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Oct28
Dengue in 3 month old male boy
Deepak,3 month old male baby, of middle soccioeconomic class persented to us with poor feeding and irritable behavior. Born to nonconsaguinious marraige ,by NVD, CIAB, with unevevntfull 3 month home staying,

Baby put on broad spectrum antibiotics and relavant investigation sent. All parameters are normal except leucopenia.
Since baby in delhi (Dengue zone)so we send sample for Dengue NS1 as cause for letharginess. we surprise by knownig it is postive. It is repated twice for confirmation it postive again.

Local epidemics / disease pattern must be kept in mind for any unusual presentation even in small baby.


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Oct25
Seizure in Normal child
A 8 yrs. Male (AMIT)boy with perfectely all right condtion, visit to own school as usual days . At 2:20 pm in class room he is complainng of headache. School teacher call the maother and send boy back home. At home he developed seizure(GTCS).

Amit's mother rushes to hospital ,in ER Amit vomit out. Doctor on duty just give antiemetic injection and loading with inj phenytoin for controloing vomiting and convulsion . After 2 hrs in hospital ,boy become unconciouss . Amit's mother by seeing all this catastrophic events rushes to our hospital where urgent CT done ,we find large Internal bleed ,Neurosugeon call send and urgent drinage done

Baby finally discharge with diagnosis of AV Malformation with rupture.

Don't Ignore any headache with seizure


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Sep03
Wiskott Aldrich Syndrome, often Missed: A Case Report and review
Case Report May-August, 2011/Vol 31/Issue 2
May-August, 2011/Vol 31/Issue 2 -146- J. Nepal Paediatr. Soc.
Wiskott Aldrich Syndrome, often Missed: A Case Report and
Review
Kumar MK1, Narayan R2
1Dr. Mani Kant Kumar, MBBS, MD. Assistant Professor, 2 Dr. Raghvendra Narayan, MBBS, MD. Associate Professor.
Both from the Department of Paediatrics, Narayan Medical College and Hospital, Jamuhar, Sasaram, Bihar, India.
Address for Correspondence: Dr. Mani Kant Kumar,

Abstract

Wiskott-Aldrich syndrome is an X-linked recessive disorder characterized by thrombocytopenia, eczema
and recurrent infections. We report a 15 month old boy who had presented with lower gastrointestinal
bleed, recurrent infections and eczema. Blood picture revealed microthrombocytopenia, high IgA and
IgE, and low IgM and Normal IgG levels. A diagnosis of Wiskott-Aldrich Syndrome was made, which was
missed by many paediatrician even after prolonged hospital stay before admission in our Institute. The
recent progress in understanding of the pathophysiology and treatment are discussed.
Key words: Wiskott-Aldrich syndrome, Eczema, Microthrombocytopenia


Introduction
Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive disorder characterized by a triad of thrombocytopenia with decreased mean platelet volume, eczema, and increased susceptibility to pyogenic and opportunistic infections1. Immunologically, there is poor antibody response to polysaccharide antigens, progressive decrease in T cell number and function, and a characteristic immunoglobulin profi le refl ected in low IgM, elevated /normal IgA, elevated IgE and normal/ low IgG levels2.

The rapid destruction of abnormally shaped platelets is the primary cause for severe thrombocytopenia in WAS patients3. The immunodefi ciency in WAS is primarily associated with T- and B-lymphocyte dysfunction. The protein encoded by the WAS gene (WASP) is a hematopoietic specifi c regulator of actin nucleation in response to signals arising at the cell membrane4. Mutations impairing but not abolishing WASP expression can cause X-linked thrombocytopenia (XLT) and is considered an attenuated form of WAS because it is
characterized by low platelet counts with minimal or no immunodefi ciency5.

Purpose of reporting this case to increase awareness among paediatrician of developing countries regarding high index of suscpicion and to think other possibilities if any patient not improving to the exetent expected inspite of adequate treatment. Here we are reporting a case with Wiskott-Aldrich syndrome from Bihar, India and recent progress in understanding the pathophysiology of the disease and treatment are discussed.


Case Report

A 15-month-old boy, born by spontaneous vaginal delivery of a non-consanguineous marriage presented with second episode of bleeding per rectum. There was no history of decreased urine output, no abdominal pain, no swelling over body, no family history of similar illness
in family. There was history suggestive of recurrent sinopulmonary and soft tissue infections, eczematoid rashes which was started form scalp and gradually progressed to all over body since early infancy which was treated by many paediatricians. First episode of bleeding per rectum occurred 2 months back, during fi rst episode initially treated by a paediatrician as case of dysentery but no improvement in the bleeding then he referred this case to another hospital, where he was diagnosed as case of Hemolytic Uremic syndrome. Patient was hospitalized for 40 days and managed with 6 times fresh whole blood transfusion, broad spectrum antimicrobials and was discharged on request when J. Nepal Paediatr. Soc. -147- May-August, 2011/Vol 31/Issue 2 asymptomatic for 5 days. After 15 days of discharge
patient again developed bleeding per rectum then brought to our institute. Investigation during fi rst episode revealed Hemoglobin 7.5 gm/dl, TLC 12400/cmm, DLCP 58, L40, E02, Platelet count 20,000/cmm, general blood picture (GBP) - microcytic hypochromic anemia, no
fragmented RBC, Tiny platelets, no immature cell, blood urea 18mg/dl, Creatinine 0.6 mg/dl, urine was normal normal on routine examination and microscopy, inspite of 6 times fresh whole blood transfusion predischarged platelet count was 36,000/cmm.

On admission in our hospital he was afebrile, alert and active. He had mild pallor pulse rate 92 per minute, respiratory rate of 32 per minute, weight 5.5 kg (less than 3rd centile), length 70 cm (less than 3rd centile), sparse hair and eczematoid rash over the scalp, neck, skin folds of upper and lower limbs. His head circumference was 43 cm (normal for age) and chest circumference 41 cm. There were no congenital malformations. Respiratory, cardiovascular and central nervous system were within normal limits while the liver was palpable 1
cm below the costal margin. Laboratory investigations revealed hemoglobin (Hb) of 9.6gm/dl, total leukocyte count 11,800/cumm and platelet count 25,000/cumm. PT (Prothrombin time) was 13 seconds and aPTT was 31 seconds. General blood picture revealed normocytic
hypochromic with microthrombocytopenia. Blood urea was 16mg/dl and creatinine was0.6mg/dl and Urine was normal on routine examination and microscopy, urine culture was sterile. Immunoglobulin profi le showed high IgA (179mg/dl, normal less than 83 mg/dl for age ), low IgM (95mg/dl, normal >145 mg/dl), High IgE (1560unit/ ml normal 1.4- 52.3 unit/ml for age) and normal IgG (1378 mg/dl), HIV serology was negative.

Patients was managed with oral antimicrobials, multivitamins, one time@ 20ml/kg fresh whole blood transfusions(because platelets concentrates not available in our blood bank) and IV immunoglobulin at rate 400mg/kg, he improved gradually, and pre discharged platelets count was 55,000/cumm. Parents were counselled regarding available treatments options and after 7 days of hospital stay he was dischared on Co-trimoxazole prophylaxis, multivitamins & iron supplementation, emmoliants as advised by dermatologist with advice of monthly IV Ig replacement therapy. He was on regular monthly Immunoglobulin replacement therapy in follow up and doing well, and
has gained weight 2 kg over past 5 months.


Discussion


The present case demonstrated characteristic clinical triad of Wiskott-Aldrich syndrome-intermittent bleeding because of thrombocytopenia, progressive eczema since early infancy and recurrent sinopulmonary bacterial infections. Immunoglobulin profi le showed high IgA, low IgM, High IgE and normal IgG. Small platelets size and low platelets count clinched the diagnosis in favour of Wiskott - Aldrich syndrome. At a later age when T cell functions are affected, opportunistic infections may occur. Children who survive the fi rst 8-10 years are at risk for the development of lymphoid malignancies. The diagnosis of Wiscott Aldrich Syndrome is based on the demonstration of increased serum IgA and IgE and decreased serum IgM levels, absence of isohemagglutinins, and poor anti-body response to polysaccharide antigens in males with characteristic constellation of clinical features2. Wiskott-Aldrich syndrome is a complex and severe X-linked disorder characterized by microthrombocytopenia, eczema, immunodefi ciency, and increased risk in developing
autoimmunity and lymphomas.

WAS affects 1 to 10 of every 1 million male newborns and their life expectancy is approximately 15 years. The protein encoded by the WAS gene (WASP) is a hematopoietic specifi c regulator of actin nucleation in response to signals arising at the cell membrane4,5.
Among clinical manifestations, hemorrhages are frequent (80% incidence) in WAS and range from non– life-threatening (epistaxis, petechiae, purpura, oral bleeding) to severe manifestations, such as intestinal and intracranial bleeding. Death of WAS patients
is caused, in 21% of the cases, by haemorrhages6. Bleeding is the result of severe thrombocytopenia with reduced platelet size, which is the most common fi nding in WAS and XLT patients (100% incidence). Thrombocytopenia occurs irrespectively of the severity
of the mutation and is possibly caused by instability of mutated WASP in platelets7. Despite intensive research, the mechanisms underlying WASP related thrombocytopenia and hemorrhages are not completely understood. Megakaryocyte numbers have been
reported to be normal in the majority of WAS patients, whereas proplatelet formation depending on actin polymerization and formation of branching structures is conserved when tested in in vitro and ex vivo cultures8. Peripheral destruction of platelets in the spleen is thought
to play an important role in thrombocytopenia because a substantial correction of the platelet count and size after splenectomy has been reported. The accelerated destruction could be caused by an intrinsic defect of WASP-defi cient platelets, showing an increased surface
exposure of phosphatidylserine, or could be mediated by autoimmune reaction because of the presence of antiplatelet antibodies reported in patients and in the murine knockout model9. May-August, 2011/Vol 31/Issue 2 -148- J. Nepal Paediatr. Soc. The typical skin lesions in WAS patients resemble acute or chronic eczema in appearance and distribution. Eczema develops in 80% of the patients6
and is heterogeneous in severity and persistence. The causes of eczema in WAS patients are currently unknown. WAS patients often have elevated IgE levels and develop allergies therefore suggesting an atopic origin10. Recently, an imbalance in cytokine production toward the Th2 type has been described in WAS patient’s T-cell lines and might contribute to the pathogenesis of eczema and allergy11. WAS-associated autoimmune complications are frequently observed. The incidence of autoimmunity in classic WAS is high in the US and European populations (40%-72%), whereas a lower incidence was reported in Japan (22%)6,10,12. The most common manifestations are autoimmune hemolytic anemia, cutaneous vasculitis, arthritis, and nephropathy. Less common autoimmune manifestations include infl ammatory bowel disease, idiopathic thrombocytopenic purpura, and neutropenia. Patients frequently have multiple autoimmune
manifestation at the same time. Development of autoimmunity have a poor prognosis12. Until now, the mechanisms of WAS-associated autoimmunity have not been clarifi ed. It has been proposed that autoimmunity could be the result of a bystander tissue damage
originating from the chronic infl ammatory state that is established after incomplete pathogen clearance13. Moreover, autoimmunity is associated with a higher risk of a later development of tumors and an increased risk of mortality6. Two distinct surveys report a tumor
incidence of 13%6 and 22%10 in WAS patients. Tumors can arise during childhood (especially myelodysplasia) but are more frequent in adolescents and young adults. WAS-associated tumors are mainly lymphoreticular malignancies, with leukemia, myelodysplasia, and
lymphoma (often Epstein-Barr virus [EBV]–positive) resulting in up to 90% of the cases. WAS-associated malignancies have a poor prognosis because less than 5% of patients survive 2 years after diagnosis6, and result in up to 25% of death cases13. WASP is a
key regulator of actin polymerization in hematopoietic cells. As a cytoskeletal regulator, it is necessary for induction of normal immunity. WASp functions as a bridge between signaling and movement of the actin fi laments in the cytoskeleton. WASp has several welldefi
ned domains (pleckstrin, cofi lin, verprolin, SH3) that are involved in signaling, cell locomotion, and immune synapse formation. In vitro studies with T cells, platelets, phagocytes, and dendritic cells of patients with Wiskott-Aldrich syndrome reveal defects in the
formation of microvilli, fi lopodia, phagocytic vacuoles, and podosomes, respectively; these structures depend on cytoskeletal reorganization of actin fi laments.

Researchers also identifi ed many different mutations that interfere with the protein binding to Cdc42 and Rac GTPases, among other binding partners, most of which are involved in regulation of the actin cytoskeleton of lymphocytes14,15. The actin cytoskeleton
is responsible for cellular functions, such as growth, endocytosis, exocytosis, and cytokinesis. Mutations of WASP are located throughout the gene and either inhibit or dysregulate normal WASp function. WASp facilitates the nuclear translocation of nuclear factor kappa-B (NFkB) and was shown to play an important role in lymphoid development and in the maturation and function of myeloid monocytic cells. In mice, WASp was found to be essential for NF-ATp activation, and for nuclear translocation of p-Erk, Elk1 phosphorylation, and c-fos
gene expression in T cells. These defects in mutated forms of WASP are the likely etiology of defective IL-2 expression and T-cell proliferation in Wiskott- Aldrich

Syndrome.

Research has shown phenotype-genotype correlation. Classic Wiskott-Aldrich syndrome, X-linked thrombocytopenia, and X-linked neutropenia occurs when WASp is absent, when mutated WASp is expressed, and when missense mutations occur in the Cdc42-binding site, respectively16. Pre-natal diagnosis is possible using DNA technology, either by direct identifi cation of mutation or by linkage.
Treatment is directed mainly at control of bleeding through transfusions of blood and platelets, and control of infections with antibiotics and Immunoglobulin replacement. Splenectomy improves the platelet number but makes the patient susceptible to sepsis, requiring
life long prophylaxis with antibiotics17. Immunoglobulins given intravnously may be helpful in prophylaxis of both viral and bacterial infections, but do not improve thrombocytopenia. Eczema is diffi cult to manage and may persist even after long term use of local steroids.
Currently, the only curative therapeutic option for WAS patients is hematopoietic stem cell transplantation (HSCT). When a related human leukocyte antigenidentical donor is available, HSCT leads to more than 80% survival rate. On the other hand, transplantation using the bone marrow of a mismatched related donor results in a decreased survival rate18,19,20,21. When a suitable related donor is not available, bone marrow or cord blood transplantation from a matched unrelated donor is a valid therapeutic option, leading to a 71% to
81% survival rate19,20,22. A better outcome for matched unrelated donor and mismatched related donor HSCT in patients younger than 5 and 2 years of age, respectively, has been reported, suggesting that transplantations should be performed early in life19,20,23.
J. Nepal Paediatr. Soc. -149- May-August, 2011/Vol 31/Issue 2 The fi rst reported case of sucessful BMT for WAS in India from Christian Medical College and Hospital, Vellore24. The implementation of new therapeutic strategies, such as transplantation of autologous genecorrected hematopoietic stem cells, is highly desirable because it will avoid rejection and graft-versus-host disease and could be applicable to all WAS patients lacking a suitable bone marrow donor, allowing the timely treatment of the disease. The rationale for
gene therapy is also supported by the observation of frequent spontaneous somatic revertants conferring selective advantage to WASP expressing cells25. At present, retroviral vectors based on the murine Moloney leukemia virus have been used for the treatment of
patients with SCID-X1, ADA-SCID, and X-CGD26,27,28. Recently, a gene therapy trial for WAS was initiated in Germany using a murine Moloney leukemia virusderived retroviral vector encoding the full WASp cDNA. Preliminary data from the fi rst 2 patients 18 months
after gene therapy indicate amelioration of the clinical phenotype with correction of thrombocytopenia and resolution of eczema and autoimmunity29. Dupre L et al have demonstrated that lentiviral vector encoding a 1.6-kb fragment of the human WAS endogenous
promoter (w1.6WLV) is able to successfully restore WASP expression in CD34_ HSCs, T cells, B cells, and DCs, and to correct TCR-driven activation in T-cell lines derived from WAS patients30. However gene therapy using a lentiviral vector is still in experimental phase in
animal model for the treatment of WAS. WAS patient should be immunized except live vaccine because a protective antibody response often obtained.


Conclusion


We should have high index of suspicion of WAS if any patient presented with bleeding manifestation with history of recurrent sino-pulmonary infection and eczema especially at centres with limited resources in developing country, because early diagnosis and
treatment has better prognosis.


References


1. Aldrich RA, Steinberg AG, Campbell DC.Pedigree
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2. Inoue R, Kondo N, Kuwabara N, Orii T.Aberrant
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3. Mullen CA, Anderson KD, Blases RM. Splenectomy
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4. Symons M, Derry J, Karlak B, et al. Wiskott- Aldrich
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5. Villa A, Notarangelo L, Macchi P, et al. X-linked
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6. Sullivan K, Mullen C, Blaese R, Winkelstein J.
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7. Shcherbina A, Rosen F, Remold-O’Donnell E.
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cell dysfunction. J Immunol 1999;163:6314-320.

8. Haddad E, Cramer E, Riviere C, et al. The
thrombocytopenia of Wiskott Aldrich syndrome
is not related to a defect in proplatelet formation.
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9. Burns S, Cory GO, Vainchenker W, Thrasher AJ.
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immunologic disease. Blood 2004;104:3454-462.

10. Imai K, Morio T, Zhu Y, et al. Clinical course
of patients with WASP gene mutations. Blood
2004;103:456-64.

11. Trifari S, Sitia G, Aiuti A, et al. Defective Th1
cytokine gene transcription in CD4_ and CD8_ T
cells from Wiskott-Aldrich syndrome patients. J
Immunol 2006;177:7451-461.

12. Dupuis-Girod S, Medioni J, Haddad E, et al.
Autoimmunity in Wiskott-Aldrich syndrome
risk factors, clinical features, and outcome in a
single center cohort of 55 patients. Pediatrics
2003;111:622-27.

13. Arkwright PD, Abinun M, Cant AJ. Autoimmunity in
human primary immunodefi ciency diseases. Blood
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14. Kwan SP, Hagemann TL, Blaese RM, Rosen
FS. A high-resolution map of genes, microsatellite
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from UBE1 to the GATA locus in the region
Xp11.23. Genomics 1995;29(1):247-52.

15. Snapper SB, Rosen FS. The Wiskott-Aldrich
syndrome protein (WASP): roles in signaling
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and cytoskeletal organization. Annu Rev
Immunol 1999;17:905-29.

16. Anton IM, Jones GE. WIP: a multifunctional protein
involved in actin cytoskeleton regulation. Eur J Cell
Biol 2006;85(3-4):295-304.

17. Lum LG, Tubergen DG, Corash L, Blease
RM. Splenectomy in the management of the
thrombocytopenia of the Wiskott-Aldrich syndrome.
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18. Antoine C, Muller S, Cant A, et al. Long-term
survival and transplantation of haemopoietic stem
cells for immunodefi ciencies: report of the European
experience 1968- 99. Lancet 2003;361:553-60.

19. Filipovich A, Stone J, Tomany S, et al. Impact of donor
type on outcome of bone marrow transplantation
for Wiskott-Aldrich syndrome: collaborative study of
the International Bone Marrow Transplant Registry
and the National Marrow Donor Program. Blood
2001;97:1598-603.

20. Kobayashi R, Ariga T, Nonoyama S, et al. Outcome
in patients with Wiskott-Aldrich syndrome following
stem cell transplantation: an analysis of 57 patients
in Japan. Br J Haematol 2006;135:362-66.

21. Ozsahin H, Le Deist F, Benkerrou M, et al. Bone
marrow transplantation in 26 patients with Wiskott-
Aldrich syndrome from a single center. J Pediatr
1996;129:238-44.

22. Pai SY, Demartiis D, Forino C, et al. Stem cell
transplantation for the Wiskott-Aldrich syndrome:
a single-center experience confi rms effi cacy of
matched unrelated donor transplantation. Bone
Marrow Transplant 2006;38:671-79.

23. Ozsahin H, Cavazzana-Calvo M, Notarangelo LD,
et al. Long-term outcome following hematopoietic
stem-cell transplantation in Wiskott-Aldrich
syndrome: collaborative study of the European
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Group for Blood and Marrow Transplantation. Blood
2008;111:439-45.

24. Mathew LG, Chandy M, Dennison D,et al.
Successful bone marrow transplantation in an
infant with Wiskott-Aldrich syndrome. Indian Pediatr
1999;36(7):707-10.

25. Wada T, Candotti F. Somatic mosaicism in primary
immune defi ciencies. Curr Opin Allergy Clin
Immunol 2008;8:510-14.

26. Cavazzana-Calvo M, Hacein-Bey S, de Saint Basile
G, et al. Gene therapy of human severe combined
immunodefi ciency (SCID)-X1 disease. Science
2000;288:669-72.

27. Ott MG, Schmidt M, Schwarzwaelder K, et al.
Correction of X-linked chronic granulomatous
disease by gene therapy, augmented by insertional
activation of MDS1-EVI1, PRDM16 or SETBP1.Nat
Med 2006;12:401-09.

28. Aiuti A, Cattaneo F, Galimberti F, et al. Long-term
safety and effi cacy of gene therapy for adenosine
deaminase (ADA)-defi cient severe combined
immunodefi ciency.N Engl J Med 2009;360:447-58.

29. Boztug K, Klein C, Avedillo-Diez I, et al. Hematopoitic
stem cell gene therapy for Wiskott Aldrich
Syndrome. Clinical Experimental Immunology
2008; 154(Suppl.1):12-13(O III-1).

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How to cite this article ?

Kumar MK, Narayan R. Wiskott Aldrich Syndrome, often Missed: A Case Report and Review. J Nep Paedtr Soc
2011;31(2):146-150.


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Apr29
A Baby with Broken Bone – A Parents guide for fractures in children.
A Baby with Broken Bone – A Parents guide for fractures in children.


Fractures in children following injury are common and cause sudden panic among parents. Children are not small adults but a different sub set of patients and thier injury pattern is completely different. Hence ,It is important for the Parents/ Gaurdians to understand these basic trends of injury in children.
It is estimated that significant Percentage of children sustain fracture between 0-16 years ( 42 % boys & 27% girls). The children have soft bones and stong ligaments therefore any small injury fractures a bone rather than causing soft tissue ( ligament) injury. A normal Xray does not exclude the fracture completely and if clinical symptoms predominate ( tenderness, pain , swelling) its better to immobilise with plaster etc. In such cases a xray after few days will reveal a hairline or previously unseen fractue. Majority of the fractures are treated with immobilisation ( Slings or plaster). It is important that displaced fractures are properly aligned. This is better achieved if child is under anaesthesia or sedation. Angular malalignment up to 15 degree is well tolerated however any rotational malalignment is not tolerated. The normal process of bone remodeling in a child may correct malalignment, making near-anatomic reductions less important in children than in adults. Remodeling can be expected if the patient has two or more years of bone growth remaining. Because the amount of remodeling is not predictable, displaced fractures should still be reduced to maximize the chances of achieving acceptable alignment.
The fractures in children heal fast and non unions are very rare. While this faster healing has the advantage of little immobilisation period , it leaves with little time for manipulation if the fracture is malaligned. This is significant if proper medical help is not taken within 3-5 days because after this the fracture becomes sticky and getting alignment is difficult even under anaesthesia. Majority of children do not show all the classical signs and symptoms of fractures and many will still walk with limp. Hence any subtle signs need to be properly investigated and evaluated by Specialist.
The fractures in children are also peculiar due to presence of Growth plates which are found at ends of bones. These are responsible for the growth and ulimate height attained over the years. The transition area of bone and growth plate is the weakest part of the bone and is most likely to be fractured. If medical treatment is not taken promptly it could result in “ Growth Arrest” (the bone stops growing) or bowing of bone . However sometimes fractures in children may stimulate longitudinal growth of the bone, which may make the bone longer than it would have been had it not been injured. Some degree of fracture fragment overlap and shortening is, therefore, acceptable and even desirable in certain fractures to counterbalance the anticipated overgrowth. This is particularly true for fractures of the femoral or tibial shaft.
Children tolerate prolonged immobilization ( Plaster or Slings) much better than adults. Disabling stiffness or loss of range of motion is distinctly unusual after pediatric fractures. After cast immobilization, physical therapy is rarely needed because children tend to resume their normal activity gradually without much supervision. Playing in a swimming pool may speed up return to full function, if desired. Even though fractures of growing bones generally heal with a large callus, this new bone is still fibrous and not yet restored to its original strength. Because of this, the child should avoid collisions or contact activities for two to four weeks, depending on activity level and age, after discontinuing immobilization.
The distal radius is perhaps the most common fracture site in children and adolescents. The incidence of fractures of the distal forearm has increased 40% over the last 30 years, with most of the increase occurring in fractures associated with recreational activities. The peak incidence of distal radial fractures ( around wrist) coincides with the peak growth velocity for children, because of the relative porosity of the bone during this time. The usual mechanism of injury is a simple fall on the extended wrist. Other areas commonly fractured are supracondylar ( above elbow), clavicle , leg bone and thigh bone. Toddler's fractures occur most commonly in children younger than 2 years old who are learning to walk. Frequently, there is no definite history of a traumatic event, and the child is brought to the clinic because of reluctance to bear weight on the leg.
A majority of fractures in children younger than 1 year are caused by physical abuse, and a significant percentage of the fractures in children younger than 3 years are the result of abuse. Although all children are potentially at risk of maltreatment and abuse, first-born children, premature infants, stepchildren, diabled children and children with both working Parents are at greater risk. It is not unusual for young children to fall, but it is unusual for them to sustain a significant injury from the fall alone. It is rare for an infant to sustain a fracture from a fall from a sofa or changing table. It is important to see whether the reported history of the trauma is consistent with the pattern, severity, and extent of the injury. Femoral fractures in children younger than 1 year are highly suspicious for child abuse . Because scapular fractures result only after significant force, a scapular fracture in a child without a clear history of violent trauma should raise suspicion of abuse.
Fractures during childhood are common. Being knowledgeable about injury patterns, typical mechanisms of injury, and physical findings helps ensure adequate evaluation and treatment.
Dr. Harinder Batth
M.S(PGI)
Orthopedic Surgeon

Key Points
1. Significant Percentage of children sustain fracture between 0-16 years ( 42 % boys & 27% girls).
2. A normal Xray in children does not exclude the fracture completely.
3. Remodeling is expected if the patient has two or more years of bone growth remaining.
4. Children tolerate prolonged immobilization ( Plaster or Slings) much better than adults.


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Apr28
CMV infection with vasculitis with Kawasaki disease
Sarthak,6 month/M/ch/ product of nonconsgiaunous marraige persented to us with complain of anemia and ,hepatosplenomagaly. baby was investigated throughly and it is found that baby with IGM postive for C M V.

After 2 month of apprentely asymptomatic period baby developed right hand bluish discoluration, to conform etiology CT angio done it ifound that there is fusiform swelliing of whole subclavion ,brachial and radial artery with nonvisuliation of radial artery

Radiologist make diagnosis of Kawasaki diseseas
Baby put on LMW heparin with IVIG.


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Nov21
Age Management Medicine and Research, an Official Sponsor of the Microsoft Alumni Foundation, Supports SeeYourImpact.org
– Thu Nov 18, 12:30 am ET
AMAR India is proud to be an Integral Sponsor of the Microsoft Alumni Foundation 2010 Celebration, supporting non-profit organization SeeYourImpact.org’s innovative approach to charity, by showing donors the direct impact of their donations on people’s lives.

Seattle, WA (PRWEB) November 17, 2010

Age Management Medicine and Research (AMAR India) is proud to be an Integral Sponsor of the Microsoft Alumni Foundation 2010 Celebration, supporting non-profit organization SeeYourImpact.org’s (http://SeeYourImpact.org) innovative approach to charity, by showing donors the direct impact of their donations on people’s lives.

On November 18th in Seattle, the Microsoft Alumni Foundation will host its second annual celebration honoring the Microsoft community’s accomplishments in philanthropy. Bill and Melinda Gates will recognize award winners and nominees of the Integral Fellows for their commitment to changing lives through philanthropic service. The winners of the Integral Fellows Award will each receive a $25,000 unrestricted grant for their nonprofit organization, as well as support from their fellow alumni to help continue in their efforts to leverage resources and scale solutions for their initiatives.

The panel of judges includes: Tom Brokaw, journalist and author, Bill Drayton, chair and CEO, Ashoka, William H. Gates Sr., co-Chair, Bill & Melinda Gates Foundation, Pierre Omidyar, Founding partner, Omidyar Network and Founder and Chairman, eBay Inc., Judith Rodin, President, Rockefeller Foundation, Thomas J. Tierney, Chairman and Co-founder, Bridgespan Group.

AMAR India is proud to support the work of the Integral Awards Program, including its chosen charity, SeeYourImpact.org. “We are honored to provide support for the philanthropic accomplishments of the Microsoft Community,” said Dr. Anoop Chaturvedi, Founder, AMAR India.

“We are very happy to announce that Mark Shanks, COO of Erchonia Corporation USA, world leader in low level laser technology, has agreed to donate its latest wound-healing lasers with the support of Scott Oki and Digvijay Chauhan, Co-founders, of SeeYourImpact.org to medical institutes in India. These lasers will greatly aid burn victims, diabetic patients with non-healing wounds, and patients struggling with mobility who are suffering with bed sores in hospitals and retirement homes. This will change the way we look at the healing process from healing wounds to healing life.” said Rowland Hanson, Chairman Erchonia India.

The Microsoft Alumni Foundation brings together Microsoft alumni to positively affect the world's challenges. "We've been fortunate to play a significant part in the information revolution. Now we have a chance to change the world in a different way. Microsoft alumni are making it happen every day in our local communities and around the world," said Jeff Raikes, chairman of the board of the Microsoft Alumni Foundation. "Some very unique individuals were nominated by their peers as Integral Fellows for their work deeply rooted in service and making a difference in people's everyday lives.”

About SeeYourImpact.org: SeeYourImpact.org (http://SeeYourImpact.org) is a revolutionary way to help those in need around the world and next door. Give a small gift. In about two weeks, you’ll receive a photo and story of the person you helped. By showing donors who and how their gift changed someone’s life, SeeYourImpact.org transforms charitable giving into a fun, transparent experience. SeeYourImpact.org offers over 70 charitable innovations in more than 15 countries spanning 3 continents.

About the Foundation: The Microsoft Alumni Foundation was established to catalyze the collective power of the Microsoft alumni family and leverage our resources on innovative, scalable and transformative solutions to our world's challenges. Launched in 2007, the Foundation is a 501(c)(3) public nonprofit organization with its worldwide headquarters based in Bellevue, Washington, USA. Board members include: Jeff Raikes (chair); Chuck Hirsch (president); Scott Oki (co-founder and vice president); Paul Shoemaker (treasurer); Tony Audino (co-founder); Sharon Maghie (co-founder and secretary) and Brad Smith (Microsoft representative).

About AMAR India: The mission of Age Management Medicine and Research India is to introduce the concept of graceful and healthy aging. It helps establish complete businesses for those who have the same goals. It brings the latest science and technology for improvement of the quality of life of patients through age management and anti-aging conferences and courses for physicians. It promotes a unique social platform where like minded physicians dealing with aging and age-related diseases can come together to connect, learn and collaborate with each other. AMAR India together with Erchonia USA and SeeYourImpact.org is dedicated to changing lives at the grassroots-level from suffering to healing. AMAR India is a private company, based in Mumbai India. Learn more at http://www.antiagingindia.net.


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Sep29
NUTRITIONAL NEEDS OF CHILDREN
NUTRITIONAL NEEDS OF CHILDREN

There are two fundamentally different kinds of food needs- energy requirements & structural requirements. The body requires energy for many activities such as beating of the heart, breathing, digestion of the food & voluntary muscular activity. Energy is also needed for growth. This energy requirement expressed in calories is obtained chiefly from carbohydrates & fats.

1. Energy Requirements: The amount of energy needed in terms of calories varies from individual to individual & is dependant upon a number of variables, none of which can be considered independently but rather are part of a constellation. It differs with size. A large child requires more energy producing foods than a small child. It differs with the rate of activity of the body processes while at rest, i.e. with a basal metabolic rate. The faster the rate of basal metabolism, meaning the faster the heart beat, respiration etc. The greater the number of calories used in a given time & conversely, the lower the rate, the lower the number of calories needed.
The energy requirement differs too with the amount of voluntary activity. A very active child requires more calories per day than a quiet one. The same child will need more calories during a day of vigorous activities than during one of quiet activities.
Energy requirements differ also in accordance with the efficiency of the body in using foods. Some bodies are more economical in the use of foods than others. In some cases food is more easily digested & absorbed than in others. In all individuals some food value is lost in bowel elimination, but the amount varies considerably from child to child. Finally, the need for calories depends on the rate of growth. The fast growing child will need more calories than the slow growing child. During the periods of his life when the impetus to grow is more intense, infancy & early adolescence, the amount of energy required for growth will be greatest.
In proportion to their weight, children’s food needs are greater than those of adults because of children’s relatively greater basal metabolism, their tremendous activity & their growth. Boys generally catch up with their fathers in need for calories at 13 years & exceed them by 16 percent at 18. By 10 years of age girls already exceed their mothers by 11 % & at 13 by 16 % in their energy needs.

2. Structural Requirements: the structural requirement covers the need for materials which go to make up tissues & to regulate the functions of those tissues. The necessary food elements or nutrients are 40 in number. They include amino acids from proteins, at least one digestive product of carbohydrates (glucose), some unsaturated fatty acids or acids (derived from the digestion of fats), minerals & vitamins. The body needs all these in adequate amounts for the building & repair of its tissues & for these tissue’s daily activities. Since all foods do not contain all of these nutrients, a balanced diet of “protective” foods, i.e. foods rich in the essential nutrients, is necessary.

3. Importance of Minerals: Minerals serve as constituents of tissues. Calcium & Phosphorus are responsible for the rigidity of the bones & teeth. The softer bones of children contain less minerals than the firmer bones of adults. The process of hardening called ossification demands Calcium & Phosphorus in generous quantities. An inadequate amount of these minerals may result in poor teeth & poorly formed bones. Poor teeth are a barrier to good health & attractiveness. Poorly formed bones detract from the attractiveness of an individual & limit his physical efficiency.
Minerals serve as regulators of body process. The part played by minerals in the beating of the heart & in the activity of the nerves has been mentioned. For coagulation of the blood the body needs calcium in the blood. Phosphorus takes part in the chain of events in muscle activity & in the transfer of energy. The digestive juices such as salivary, gastric & intestinal juices, depend upon minerals for their acidity or alkalinity. Minerals regulate the flow of liquids by means of which substances are absorbed, passed to and from body cells & excreted through kidneys or intestines.

4. Importance of Vitamins: The vitamins, as regulators of body processes, have a vital role to play in keeping children well & furthering their development. The vitamins now recognized as contributing to the health & growth of children are Vitamin A, D ,C, K, Thiamine, Riboflavin, Niacin, B-6, Folic acid & B-12. Vitamin K aids in the formation of prothrombin, which is associated with the mechanism of blood clotting.

VITAMIN –A : is a necessary part of the visual process & thus is associated with the ability to see in dim light. Vit-A is also necessary for maintaining the health of epithelial tissue, namely, the tissue of skin, covering of the eye, the lining of respiratory, alimentary & genitourinary tracts. Deficiency of Vit –A structurally impairs “the body’s first line of defense”. In addition it is necessary for the orderly development of bones & teeth. It is also essential for the formation of enamel of teeth.
Source of Vitamin A - Milk, Butter, Liver, Fish Liver Oils and Egg Yolk.

VITAMIN –D : IS essential for the normal growth & mineralization of the bones & the teeth. The body cannot make proper use of the Calcium & Phosphorus supplied by food unless Vit- D is present.
Source of Vitamin D - Fish Liver Oil, Milk, Butter, and Yeast.

Thiamine (Vit- B 1) : Is one of the vitamins in the B-Complex. Thiamine is essential for the maintenance & normal function of the nervous system. It has been found that Thiamine is necessary to carry carbohydrate metabolism through an essential step.
Source - Cereals, Grains, Beans, Nuts, Pork and Duck.

RIBOFLAVIN (Vit-B 2) : Plays an important role in the internal environments in which the body cells live, where it is involved in the life processes of active cells. Riboflavin is essential to growth & to normal nutrition at all ages. A deficiency produces characteristic changes in the lips, tongue & skin.
Source - Dairy products, offal and leafy vegetable.

NIACIN: Is involved in the life processes of the cells. It prevents Pellagra, with its characteristic skin lesions, digestive & nervous disturbances, provided all other essentials are included in the diet.
Source - Found in many food stuff including plant, meat, (particularly Offal).

VITAMIN –B 6 : Is a member of the enzyme system in certain metabolic processes, including those of neural tissue. Arrested growth & disturbances in functioning of the nervous system have been noted to follow deprivation of B 6 in infancy. Also alteration in tryptophan metabolism in pregnancy has been relieved by administration of B 6 .
Sources - Widely found in animal and plant food stuff.

FOLIC ACID : Has been found to play an important part in the body’s blood forming activities. It is effective in the treatment of certain types of anaemia.
Sources - Found in green vegetables, spinach and Broccoli.

VITAMIN –B 12 (Cyanocobalmine ) : Plays an essential metabolic role & is essential for the prevention or treatment of pernicious anaemia, a disturbance of red blood cell formation.
Sources - It is found in Meat, Fish, eggs and milk but not in plant. It's also found in papayas, cantaloupes, strawberries, broccoli, Brussels sprouts, tomatoes, asparagus and parsley.

VITAMIN C : Is essential to the health of intercellular material which acts as cementing substance in holding the cells of a tissue in their precise positions.
Sources – Lemon, orange, amla, potatoes.

5. Functions of Proteins : Proteins make up a part of all body cells & participate in nearly all life processes; therefore, they are necessary for growth. Through digestion they are broken down into amino acids which are used by the body in building its tissues; bones, muscle, nerves, skin, blood etc. Eight of these amino acids cannot be manufactured in the body & so must be supplied in the diet. Deficiencies in particular amino acid may lead to specific types of injury e.g. when Argimine is deficient there is a decrease in the number of sperms & their motility.
Proteins are necessary for the manufacture of enzymes used in the hormones of the endocrine glands, such as thyroxin of the thyroid gland, epinephrine of the adrenals & insulin of the pancreas. They function in regulating the flow of fluid in & out of cells.

6. Functions of carbohydrates & fats : carbohydrates & fats as the chief sources of energy, are necessary for growth, & they furnish energy for the growth process. Carbohydrates & fats also furnish the body with adipose tissue, which serves as a protection against the loss of heat, act as a cushion to the abdominal organs & is a potential source of body energy. Certain fats perform another important function i.e. they are carriers of vitamin A & D. Glucose, a digestive product of carbohydrates is a constant constituent of the blood.

7. Role of Water: The human being lives in water, even though it is not an aquatic species. Water is a part of every tissue in the body, even of the proverbially dry bone. In children the percentage of water in tissues is higher than in adulthood. Matured bone contains nearly half its weight in water. About 75% of muscle & 80% of the grey matter of the brain are water. No cell can carry on its activities when it is absolutely dry & most cells must be constantly bathed with fluid in order to do their work. These cells have their food brought to them & their waste products removed by the water route, the blood. Many of these waste products are eliminated through the urine. Water serves as a regulator of body temperature. Evaporation from the skin, perspiration, provides one of the most important methods of removing surplus heat from the body. Water protects internal organs. The central nervous system is bathed by the cerebrospinal fluid. Fluid also lubricates joints, thereby making movements at joints easy. Water is therefore tremendously important in life. Rubner estimated that a man could lose most of his stores of glycogen & of fat & even half of his protein without serious danger to life, but a loss of 10% of body water is serious & a loss of 20% is scarcely to be endured.

Dr. Nahida M.Mulla.M.D.
Vice Principal,
Professor of Repertory & PG Guide,
HOD Repertory.
HOD Paediatric OPD,
A M.Shaikh Homoeopathic Medical College, Hospital & PG Research Centre, Nehru Nagar, BELGAUM (Karnataka)

Mobile : 09448814660


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Sep29
Breaking a child's bad habits
Breaking a child's bad habits
Breaking a child's bad habits can be challenging. Bad habits first arise in the elementary school ages. Find out ways to empower a child to let go of negative reactions to stress.
Bad habits form in the best of people. However, compulsive behaviors do not have to rule a life or prevent one from participating fully in social contexts.
In fact, most bad habits such as hair sucking, fidgeting, nail biting and even aggression appear around the ages of 5 to 7. Providing a child with the following interventions can enable a child to let go of negative behaviors. As a child forms more constructive behaviors in its stead, a child's self-esteem increases affording the child with an even greater benefit than what was originally deemed possible.
Researchers believe that the reason for the early onset to most bad habit forming is that around the ages of 5 through 7 a child recognizes that he/she is watched by peers and others in authoritative and assessing positions. A child will pick up a compulsive behavior such as hair sucking in order to release calming hormones through the blood stream. The behavior over time becomes associated with a calm and serene state.
Earlier in toddlerhood, a child might use what psychologists term as a transitional object to produce a similar effect. For instance, some toddlers have a favorite blanket or bear that is associated with comfort. Unfortunately, the child in elementary school knows that a transitional object is fodder for ridicule from one's peers. Hence, the elementary school child will substitute a comforting compulsive behavior for the transitional object in the hope that the behavior will not be noticed as easily as an object.
Be careful of ridiculing this desire. After all, how many of us adults would feel lost without our purses and wallets even when we are aware that the place or person we are seeing does not necessitate needing a purse or wallet or watch or...whatever? Yet, we find ourselves deriving similar comfort from the close proximity of these objects.
How then can a parent or teacher facilitate in the child the breaking of a bad habit?
Behaviorists warn that more important than how to facilitate the breaking of a habit is the how not to approach the negative behavior. For instance, the very reason a child forms a bad habit is that the child recognizes for the first time that his/her performance is being assessed and is, therefore, feeling conspicuous. Calling attention to the behavior in front of the child's peers is the worst thing a parent or teacher can do even if that is what instinctually arises. For instance, a teacher might abhor hair or thumb sucking; however, calling attention to the behavior in front of peers only reinforces the child's fears that he/she is being judged as falling short.
Instead, behaviorists ask that parents and teachers attempt to stop the bad habit. For example, calling attention to when the child is behaving positively is a great way of negating the child's negative thought processes or feeling judged or feeling conspicuous in a negative way.
In this manner, the child will begin to believe that he is being watched in a positive manner and will want to match all behaviors to this ideal. Eventually, the habit will no longer be needed, as the child will assume that his/her behaviors are looked upon in a positive manner, and therefore, the stress associated with feeling watched will disappear.
Moreover, child psychologists also warn against punishing bad habits. Punishment does not teach; instead, punishment stops a behavior in the short-term. meanwhile, the stress increases as the child is now handed two problems instead of the original one. For instance, the child feels stressed and the child has to let go of the behavior that provides the comfort. The use of punishment encourages sneaking of the bad habit. The child has not learned a new constructive behavior in its place. Punishment ends up hurting everyone, since noone feels at peace with the loss. Parents discover that the child still engages in the behavior and the child feels shamed for needing to do it.
Instead, behaviorists suggest that parents, teachers and the child work as allies in the habit breaking. Researchers have found that concrete objects (other than food) that the child enjoys are wonderful tools for habit breaking. However, rather than using these objects as rewards, the child should be given them at the start of each day. If the child does not engage in the negative behavior, he/she will be able to keep all of the objects. On the other hand, if the child engages in the habit (he/she will likely do so in the beginning), then the objects are eliminated one-by-one per the number of times the behavior occurs.
To illustrate, imagine that a child enjoys the sparkle of pennies or fancy looking pencils or buttons that when accrued can be turned in for a special movie viewing. Let us assume that the child bites nails at least 10 times during the day. A parent and teacher can agree that the child is able to start the day with 10 pennies, 10 buttons or 10 pencils at the beginning of the day. As this behavior change is new, the child engages in nail biting 3 times during the day. The child sees by the removal of the desired items how often the child engages or desires to engage in the behavior. This awareness renders the child more aware of the negative habit forcing the child to no longer feel numbed by it. This means that fewer feel good hormones are being released for the purpose of calming.
Moreover, the child also comes to grips with the idea that there are fewer of the chips with which he/she started encouraging a sense of personal disappointment. It should be clarified here that for one child 10 pennies is enough of a reward in itself. However, another child might want to turn in the 10 pennies or whatever token is used for a desired activity such as movie watching, internet use, game playing, etc. Each child is unique and needs to identify to the parents and/or teacher exactly what activity would mean a great deal to him/her. Parent and teacher can then identify to the child how many of the objects need to be accrued for the purpose of accessing the activity. Success of the exercise is determined by the progress of not engaging in the compulsive habit. Over time, parents, teachers and child should be able to see that the behaviors lessened in numbers each day of the experiment. The ultimate reward should come relatively soon after the first day that no negative behaviors were engaged.
Much praise should be given to the child for whatever progress is seen over time. Moreover, some habits are more easily dropped than others. For instance, a child who lives in two different houses is going to require more patience across settings than a child who lives in one. Adults are apt to experience this phenomenon as well. For instance, it is easier to diet at home than it is in a restaurant, office setting, in-laws, etc. The more places in which a child can learn these positive rewards, the more likely that stress will not resurface. So, while it may take longer to learn the new habit forming across settings, the positive behaviors are more likely to be permanently reinforced.
Ultimately, the child needs to see that he/she is encouraged by positive affirmations that he/she can and will surmount the negative habit. The bond that is formed when the child sees that he/she is part of a team is also a precious benefit that arises from working to eliminate the bad habit. Finally, sharing with the child any bad habits that the parent had in childhood also reinforces to the child that he/she is not alone. Isn't that the greatest lesson to be learned?

Dr. Nahida M.Mulla.M.D.
Vice Principal,
Professor of Repertory,
PG Guide,
HOD of Paediatric OPD.
A.M.Shaikh Homoeopathic Medical College, Hospital & PG Research Centre Belgaum – 590010 (Karnataka)

Mobile: 09448814660.


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Sep29
Building self confidence in children
Build self confidence & self-esteem in your children:
Simple ways to build your child’s self confidence and esteem for a happier child and better parent/child relationships.
All Parents want their children to be confident. Reassurance is something we are all aware of as a parental tool to build confidence, but there are other techniques you can utilize to help build your children’s confidence level. There are three simple, yet very important things to remember:
# 1. Praise.
Praise your children daily on a job well done, or a situation you observe them handling appropriately. Let them know that you approve, and why. When your youngest child colors a nice picture and is eager to show it to you, be sure to praise them. But, also be sure to pick out a singular aspect of the picture to comment on. This tells even the youngest of children that you are interested in what they have accomplished. Praise should go beyond your acknowledgement of the piece of art; it should say to the child that you have paid attention to the details in the picture as well. With this method of praising, and singling out particular reasons a child’s confidence can soar.
# 2. Reliability and Consistency.
Children of all ages not only want to know, but need to know that they can depend on their parents or guardians to be consistent. If you have set rules for a specific dinnertime, be consistent. Do not let the teenager (or any member) of your household upset a family routine or set rule due to a preference, such as eating at friend’s house at the last minute, or being late for dinner due to a game. While there will always be exceptions to this practice, if you are consistent in any given family situation or rule your children will know they can rely on you. Although this strategy might not be popular in your home at first, your family will eventually accept and expect certain rules. They will learn to respect your decisions through your dependability as well. Through the child’s confidence in you his own confidence grows.
# 3. Trust
Trust, as we all know is “earned”. You can and should start building trust between you and your children as early as toddler hood. Nothing builds confidence in humans like trust. Be sure to remain consistent (as mentioned above) when you allow your children to venture forth in new areas. It is not always easy for a parent to feel sure of their children’s abilities, albeit a new bike, or riding that bike to the neighborhood store. Start with small and realistic steps that are agreed upon and carried out. Each success is the essential ingredient to building trust between child and parent.
Building self esteem in kids:
A child’s self esteem is one of the single most important things you can help your child to develop. A good self esteem helps a child to be confident, try new things, get along well with other children, do well in school and countless other things. The way a child feels about himself affects nearly every aspect of his life and children look to adults to learn about who they are. If a child is ignored, for example, he will feel unimportant and will act out in either two ways, he will behave badly to attract attention to himself or he will fade into the woodwork, believing that he is not important enough for anyone to take notice of him. Both examples show evidence of low self esteem.
If you want to build good self esteem in your child, you need to start when they are babies. Children begin to learn about themselves from the very beginning and if you start out right, the rest will be easy. Talk to your baby and praise her often, even for tiny victories like learning to drink from a cup, give your baby applause and let her know she is spectacular. When children see that they can accomplish things it boosts their esteem, especially if it is noticed and praised by adults.
Ask your child for his opinion on things: “What do you think of that movie we just saw?” “What restaurant do you like best?” If you ask for their opinion, they will feel important and valuable. Include your child on family decisions and always consider his input. Don’t ever ridicule your child or tell him that his idea is silly, instead, even if the idea is a little silly, you could say, “That’s a different way of looking at it!” or “How creative!”
Basically, you should treat your child with the respect that you would give to any other person and give plenty of praise and acknowledgement of his status as an important part of the family. Your child will gain friends more easily when he feels comfortable with himself and you will have the peace of mind of knowing he feels good about himself.
Oh, how delicate the thing called self esteem can be! As adults, most of us have noticed that if we are told something often enough, we might end up believing it. If those things happen to be negative, it can be so destructive!
It is very damaging for a child to hear negative things about him or herself. Unfortunately, these things often come from avenues other than their peers or the school bully. Haven’t we overheard parents saying things like “take that outfit off, you look awful!” Or saying within hearing range of a child “Johnny will never make anything of himself. He won’t even sit down to do his homework.”
Too many people simply don’t stop to think of the impact their words might have on an impressionable child. If a young teen experiments with makeup, as an example, words to the effect of “wipe it off, you look like a tramp!” will damage for a very long time while saying “I think a lighter shade of that color would look even prettier” builds self esteem because their efforts have been noticed.
It is hard to determine at exactly what age a child starts “taking it all in” and building what is to be their own self image in their mind. Certainly by the time they’re old enough to understand what “if you keep being too lazy to understand that math work, you’ll never make anything of yourself in life” means. If they start believing that life will be a waste, it will be an uphill battle to build self esteem and the desire to succeed in life. It could make much difference to hear instead “I know you’re having trouble with that math work, Billy. Why don’t we sit down together and figure it out? You’re very smart and I know that between us, we can conquer it.”
How a child views himself relies greatly on those he trusts. The parents. There will be enough peer pressure and bullies over the years; and what the child hears from a parent needs to counteract negative things others will say. It only takes a few short breaths to say “I’m so proud of you!” or “You look great today!”
I recently had an interview with a delightful girl of 15. She had been having some problems in many areas of life. She finally mentioned that she was dating and had been for a while. I took the plunge and asked what led to that decision. She thought for a moment and answered, “Oh, that’s easy. My mother told me that no boy would ever want to go out with me.”
Make your children feel good about themselves. It takes little effort to voice the things you admire about a child. Something like “that shirt really brings out the color of your eyes beautifully” just might make the difference between a terrific day or lousy day for them. If there is a decision they can help with, it’s a perfect opportunity to voice something you admire. “Will you help me choose curtains for your room? You have great taste in things like that.”
Remember, a confident child is assured in love and patience. A confident child is a happy child.
Dr. Nahida M.Mulla.M.D.
Vice Principal,
Professor of Repertory & PG Guide.
HOD of Paediatric OPD.
A.M.Shaikh Homoeopathic Medical College, Hospital & PG Research centre, Nehru Nagar, Belgaum – 590010 (Karnataka)

Mobile: 09448814660.


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Rate It


Sep12
Osteogenesis imperfecta
Osteogenesis imperfecta
OI and sometimes known as Brittle Bone Disease, or ‘Lobstein syndrome’.Osteogenesis imperfecta is disorder of congenital bone fragility caused by mutations in the genes that codify for type I procollagen. It is a common heritable disorder of collagen synthesis that results in weak bones that are easily fractured and are often deformed. It is also known as Brittle Bone Disease, or ‘Lobstein syndrome’. This condition affects an estimated 6 to 7 per 100,000 people worldwide. Several distinct subtypes have been identified. All of them lead to micromelic (short-limbed) dwarfism of varying degree. Depending on severity, the bone fragility may lead to perinatal death or cause severe deformities that persist into adulthood. A wide array of clinical manifestations of the disease may be seen. These partly depend on the genetic subtype. Types I and IV are the most common forms of osteogenesis imperfecta, affecting 4 to 5 per 100,000 people.

The following 4 types of osteogenesis imperfecta have been reported. Type I - mild forms, type II - extremely severe, type III, severe type IV – undefined.

People with this disease are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of Type-I collagen. This deficiency arises from an amino acid substitution of glycine to bulkier amino acids in the collagen triple helix structure. The larger amino acid side-chains create steric hindrance that creates a "bulge" in the collagen complex. As a result, the body may respond by hydrolyzing the improper collagen structure. If the body does not destroy the improper collagen, the relationship between the collagen fibrils and hydroxyapatite crystals to form bone is altered, causing brittleness. Another suggested disease mechanism is that the stress state within collagen fibrils is altered at the locations of mutations. These recent works suggest that osteogenesis imperfecta must be understood as a multi-scale phenomenon, which involves mechanisms at the genetic, nano-, micro- and macro-level of tissues.
In osteogenesis imperfecta, the modes of inheritance, family history, clinical features, and radiologic findings vary.Four distinct types are identified: type I, which is the dominantly inherited form with blue sclerae; type II, which is the perinatal lethal form; type III, which is the progressively deforming form with normal sclerae; and type IV, which is the dominantly inherited form with normal sclerae.
In general, type I is the mildest form of disease; type IV, type III, and type II, respectively, increase in severity.



As a genetic disorder, Ti is an autosomal dominant defect. Most people with OI receive it from a parent but it can be an individual (de novo or "sporadic") mutation. Osteogenesis imperfecta is relatively rare. In some cases, the parent has osteogenesis imperfecta and the condition has been genetically transmitted to the child. But, the child's symptoms and the degree of disability could be very different from that of the parent. In some children, neither parent has osteogenesis imperfecta. In these cases, the genetic defect is a spontaneous mutation.
The primary pathology in osteogenesis imperfecta is a disturbance in the synthesis of type I collagen, which is the predominant protein of the extracellular matrix of most tissues. In bone, this defect of extracellular matrix causes osteoporosis, which leads to an increase in the tendency to fracture. Besides bone, type I collagen is also a major constituent of dentin, sclerae, ligaments, blood vessels, and skin; therefore, individuals with OI may also have abnormalities of these structures.
The process of collagen molecule formation starts with the synthesis of procollagen. This precursor consists of a long triple-helix protein flanked by 2 propeptides at its 2 terminals. Procollagen is synthesized and then secreted into the extracellular compartment, where the amino- and carboxy-terminal propeptides are cleaved; thus, the functional collagen molecule is formed. These molecules then assemble into an ordered fibril. Mutations that interfere with expression of the collagen gene, formation of the triple helix (amino acid sequencing), or procollagen secretion affect the structure and function of collagen fibrils, resulting in a form of OI.
Electron microscopic studies of OI demonstrate a decrease in the diameter of the collagen fibril, relative to the collagen fibril of healthy persons, and smaller-than-normal apatite crystals.
A number of genetic defects cause the abnormal type I collagen synthesis that leads to OI. OI generally arises from mutations in 1 of 2 genes that encode for the synthesis and/or structure of type I collagen: the COL1A1 gene on chromosome 17, and the COL1A2 gene on chromosome 7. Mutations in these genes may cause abnormal collagen to be produced and may lead to a decrease in the production of normal collagen. The varying degree to which these 2 factors manifest themselves results in the different phenotypic expressions of OI. Milder forms of OI are caused primarily by a decrease in production of normal collagen, whereas more severe forms are caused primarily by the production of abnormal collagen. These abnormalities may be dominantly inherited, or they may be the result of sporadic mutation.
Common causes of nonorthopedic morbidity in type I and type IV OI are joint hypermobility, which causes chronic joint pain, hearing impairment, and brainstem compression.Children with type III OI often require orthopedic care because of their progressive deformities. Standing and walking are often impossible because of spinal compression fractures and scoliosis. Progressive thoracic deformities are associated with recurrent pneumonias that often limit the patient's lifespan.


Type I: The life expectancy of patients with all forms of OI other than type III is often assumed to be shortened. However, according to Paterson et al, the life expectancy of patients with OI type IA is the same as that of the general population. Type IA is a subtype of type I OI in which dentinogenesis imperfecta (tooth abnormalities) does not occur. Type IB is a rare form of type I OI in which dentinogenesis imperfecta does occur. In types IB and IV, mortality is modestly increased in comparison with that of the general population; there is no statistically significant difference in life expectancy. Type II: This form of OI is fatal in the perinatal period.

Type III: Only in type III OI is life expectancy affected. However, patients with type III OI who survive beyond the age of 10 years have a better outlook than other patients with OI.
Osteogenesis imperfecta does not seem to have a predilection for any particular race. No known sex predilection is reported for osteogenesis imperfect. The onset of fractures and deformities varies according to the type of osteogenesis imperfecta (OI) that is present.
For type I, the age of onset is variable. This form most commonly appears during the preschool years when the child is starting to stand. Onset after puberty is uncommon, although fractures may recur in adulthood after menopause or after periods of inactivity, such as after childbirth. Type II occurs in utero. In type III, abnormalities are present at birth (ie, abnormalities develop in utero) in more than 50% of patients. Fractures are frequent during the first 2 years of life.Type IV abnormalities are present at birth in approximately 30% of patients. The onset of this form is during infancy or the preschool years.
The clinical features of osteogenesis imperfecta (OI) depend on the type, but bone fragility with multiple fractures and bony deformities are the common hallmark of all types.
The major presenting signs and symptoms of OI include blue sclerae, hearing loss, tooth abnormalities (dentinogenesis imperfecta), joint laxity, and abnormal skin texture (smooth and thin skin). Other features that are common to multiple OI types include bleeding diathesis (easy bruising) and respiratory distress.
OI is classified into 4 distinct types: I-IV. Some cases of OI do not fit easily into any of the 4 types. A type V category has been added to include patients with osteoporosis or interosseous membrane ossification of the forearms and legs, as well as patients who are prone to the development of hypertrophic calluses.




The type 1 prototypical and most common form of OI is associated with the best prognosis. The mode of inheritance is autosomal dominant. The distinguishing clinical features of type I are blue sclerae, which occurs in patients of all ages, and presenile conductive hearing loss; in addition, most patients with type I OI have a family history of hearing loss. Bone fragility is mild, and there are minimal bony deformities. The stature of patients with type I OI is often normal or near normal. Ligamentous hyperlaxity, resulting in joint hypermobility or subluxation, is common. Approximately 20% of patients have kyphoscoliosis.
Dentinogenesis imperfecta is present in some families but not in others.12 Therefore, type I OI is subclassified to distinguish patients without dentinogenesis imperfecta (type IA, more common) from those with dentinogenesis imperfecta (type IB, rare). Some investigators have suggested that these 2 subgroups are biochemically distinct and that individuals with OI type IB, whose bodies make structurally abnormal collagen, are more similar to those with OI type IV than to those with other types of OI, including type IA.
Type II is the most severe form of OI. It is characterized by extreme bone fragility that almost invariably leads to intrauterine or early infant death. The cause of death is most often respiratory failure. The mode of inheritance is autosomal recessive. The sclerae are blue and occasionally dark blue or black. Clinically distinguishing features include intrauterine growth retardation, thin and beaded ribs, crumpled long bones, and limited cranial and/or facial bone ossification. Limbs are short, curved, and angulated.
Type II OI can be further subdivided into types IIA, IIB, and IIC on the basis of the radiographic features of the long bones and ribs. Patients with type IIA or IIC inevitably die in the perinatal period; rarely, patients with type IIB survive into early childhood.
Type III is the next most severe form of OI after type II. It is the most severe form in which survival extends beyond the perinatal period.
Its hallmark feature is severe bone fragility and osteopenia, which is progressively deforming. The mode of inheritance is thought to be autosomal recessive. Multiple fractures and progressive deformity affect the long bones, skull, and spine and are often present at birth. Postnatal growth failure is severe. Kyphoscoliosis is common. Sclerae are either normal from birth, or they progress from pale blue in infancy to a normal appearance by adolescence.
Type III OI is probably the form that is best known to radiologists and orthopedic surgeons. Children with type II OI tend to have severe dwarfism caused by spinal compression fractures, limb deformities, and disruption of growth plates.
Type IV OI is distinguished from type I OI by the slightly increased, though still variable, severity of bone fragility and by the presence of normal sclerae. The mode of inheritance is autosomal dominant. Mild to moderate bony deformity of the long bones and spine is present; the incidence of fracture is variable. Basilar impression of the skull, with consequent brainstem compression, is common; it is reported in 70% of patients.


Hearing loss or a family history of hearing loss is noted in patients with this type of OI, as is dentinogenesis imperfecta. Type IV OI is also subclassified to distinguish patients without dentinogenesis imperfecta (type IVA) from those with it (type IVB). Compared with type I OI, hearing loss is less common in type IV, and dentinogenesis imperfecta (type IVB) is more common. Some authors have distinguished a self-limiting variant of OI, known as temporary brittle-bone disease. Its clinical features are identical with those found in cases of child abuse.
While there is no cure for osteogenesis imperfecta, there are opportunities to improve the child's quality of life. Treatment must be individualized and depends on the severity of the disease and the age of the patient. Care is provided by a team of health-care professionals, including several types of doctors, a physical therapist, a nurse-clinician and a social worker.
In most cases, treatment will be nonsurgical.
Medical bisphosphonates, given to the child either by mouth or intravenously, slow down bone resorption. In children with more-severe osteogenesis imperfecta, bisphosphonate treatment often decreases the number of fractures and bone pain. These medications must be administered by properly trained doctors and require close monitoring.
Casting, bracing, or splinting of fractures is necessary to immobilize the bone so that healing can occur. Movement and weight bearing are encouraged as soon as possible after fractures to increase mobility and decrease the risk of future fractures.
In surgical treatment, repeated fractures of the same bone, deformity, or fractures that do not heal properly are all indications that surgery may be necessary. Metal rods may be inserted in the long bones of the arms and legs. Some rods are a fixed length and must be replaced as the child grows. Other rods are designed like telescopes so they can expand along with the bone growth. However, other complications may occur with telescoping rods.
In many children with osteogenesis imperfecta, the number of times their bones fracture decreases significantly as they mature. However, osteogenesis imperfecta may become active again after menopause in women or after the age of 60 years in men. Scoliosis, or curvature of the spine, is a problem for many children with osteogenesis imperfecta. Bracing is the usual treatment for scoliosis, but it is often ineffective in children with osteogenesis imperfecta. Spinal fusion, in which the vertebrae are realigned and fused together, may be recommended to prevent excessive curvature.
At present there is no cure for OI. Treatment is aimed at increasing overall bone strength to prevent fracture and maintain mobility.
There have been many clinical trials performed with Fosamax (Alendronate), a drug used to treat women experiencing brittleness of bones due to osteoporosis. Higher levels of effectiveness apparently are to be seen in the pill form versus the IV form, but results seem inconclusive.

Bone infections are treated as and when they occur with the appropriate antibiotics and antiseptics.
Physiotherapy used to strengthen muscles and improve motility in a gentle manner, while minimizing the risk of fracture. This often involves hydrotherapy and the use of support cushions to improve posture. Individuals are encouraged to change positions regularly throughout the day in order to balance the muscles which are being used and the bones which are under pressure.
Children often develop a fear of trying new ways of moving due to movement being associated with pain. This can make physiotherapy difficult to administer to young children. With adaptive equipment such as crutches, wheelchairs, splints, grabbing arms, and/or modifications to the home many individuals with OI can obtain a significant degree of autonomy.
Spinal fusion can be performed to correct scoliosis, although the inherent bone fragility makes this operation more complex in OI patients. Surgery for basilar impressions can be carried out if pressure being exerted on the spinal cord and brain stem is causing neurological problems.
Because osteoporosis and multiple fractures are hallmark features of osteogenesis imperfecta (OI), other disorders that cause multiple fractures or decreased bone mineralization may be considered in the differential diagnosis. Such disorders including juvenile osteoporosis, steroid-induced osteoporosis, menkes (kinky-hair) syndrome, hypophosphatasia, battered child syndrome (syndrome X), temporary brittle-bone disease.

References:
http://emedicine.medscape.com/article/947588-overview

http://emedicine.medscape.com/article/411919-overview

http://ghr.nlm.nih.gov/condition=osteogenesisimperfecta

http://orthoinfo.aaos.org/topic.cfm?topic=A00051

http://hwmaint.jmg.bmj.com/cgi/content/abstract/16/2/101

N.B.: This article is excerpted from the book MUSCULOSKELETAL INJURIES for UNDERGRADUATES


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