A woman with a rare genetic disorder 'Robertsonian Translocation', resulting in infertility, has delivered a healthy baby girl at the Jaslok Hospital and Research Center.

"With this first Invitro fertilisation (IVF) using pre-implantation genetic diagnosis (PGD), India joins a handful of countries that have accomplished successful management of this disorder," Dr Firuza Parikh, Director, Assisted Reproduction and Genetics at Jaslok and former Professor at the Yale University School of Medicine, USA, said.

The baby girl was delivered yesterday at city's Jaslok hospital, Parikh said adding that this case report was published as a cover article in the peer reviewed 'Journal of Prenatal Diagnosis and Therapy' (January- June 2010).

Attributing the success to her team of 40 individuals particularly Dr Prochi Madon, Dr Arundhati Athalye, Mr Nandkishor Naik and Dattatray Naik, Parikh explained, "We are born with 46 chromosomes which occur in pairs. Each chromosome of a pair is a mirror image of the other. Although this harmony ismaintained in nature, an occasional slip results in a translocation."

"As the name suggests, a segment or an arm of one chromosome transports itself onto another chromosome and one such rearrangement is called a RobertsonianTranslocation after the American geneticist Dr W Robertson," she said.

"The rearrangement can occur in males and females who do not manifest any clinical symptoms. The problem manifests when the couple tries to conceive," Parikh said.

"An embryo derives half its chromosomes from the father and half from the mother. Hence if the chromosome with extra genetic material goes into the embryo, the amount of genetic material of that chromosome triples resulting in miscarriage or mental retardation," the In-vitro fertilization (IVF) expert said.

The embryos were screened using Pre-implantation Genetic Diagnosis (PGD).

Eleven years ago, Parikh and Madon established PGD for genetic disorders for the first time in India at the Jaslok Hospital and Research Centre.

Parikh who led this procedure, said, "PGD requires years of perfection, team work and a thorough knowledge of reproductive biology and genetics. The couple first undergoes IMSI (intracytoplasmic morphologically selected sperm injection).

In this procedure the egg and the sperm are magnified 7000 times. With the help of a sharp pipette a single sperm is injected into the egg and the resulting embryo is ready for PGD when it reaches the eight cell stage."

"A laser beam swiftly cuts open the shell of the embryo, a fine glass pipette is advanced towards one of the cells of the embryo. Using gentle suction, a single cell is aspirated. This cell is then processed by the genetics team," Parikh said.

Madon, chief geneticist added, "The cell is put through an overnight procedure called Fluorescence In Situ Hybridisation (FISH), a procedure to zip open the DNA strands and attach coloured probes, to identify the chromosomes of interest."

In this particular couple, the wife had a translocation between chromosomes 13 and 14. Two embryos underwent the procedure of PGD. This embryo was transferred into the mother's womb, resulting in the birth of a healthy baby girl.

"PGD is an effective form of treatment for couples at a risk for Down Syndrome and other chromosomal abnormalities, for women approaching 40, those with repeated failed attempts at IVF/ICSI (Intracytoplasmic sperm injection), those women showing poor quality embryos and for severe male factor infertility. It is also helpful in some rare genetic diseases like haemophilia," Parikh said.

"We are now in the process of setting up a facility for PGD to detect embryos at a risk of Thalassemia. We have also started offering this procedure routinely to couples undergoing IVF/ICSI in order to select normal embryos so that less number of embryos are transferred," she said.

This will increase the chances of a normal pregnancy and decrease the chances of a miscarriage. This technique is called pre-implantation genetic screening (PGS), Parikh added.

There may be a seed of truth amidst the many health claims for pomegranate juice, researchers from Israel said Thursday, at least for kidney patients on dialysis.

They found that such patients who gulped a few cups of the tart liquid every week lowered their chances of infections, the second-leading killer of the more than 350,000 Americans on dialysis.

The findings were presented at the American Society of Nephrology's meeting in Denver -- aka Renal Week -- and have not yet been vetted by independent experts.

"It's a very intriguing study," said Dr. Frank Brosius, who heads the nephrology division at the University of Michigan Health System and was not involved in the research.

"I certainly don't know of anything else that would have such a profound effect," he told Reuters Health, cautioning at the same time that the study needed to be replicated by other centers.

The results come in the wake of a U.S. crackdown on allegedly false advertising by POM Wonderful, which claims its pomegranate products can help everything from heart disease to prostate cancer and erectile dysfunction.

The Israeli researchers, led by Dr. Batya Kristal of Western Galilee Hospital in Nahariya, did not use POM juice, but a brand sold by Naturafood.

In lab tests, Kristal told Reuters Health, that brand ranked highest in polyphenol antioxidants, which can reduce cell damage caused by so-called free radicals.

Antioxidants are found in different levels in fruits and vegetables, such as blueberries or broccoli.

"Pomegranate juice was shown in the last three years to contain the highest levels of polyphenols among a variety of products," Kristal said. "Much higher than red wine, for instance."

The researchers figured an antioxidant-rich diet might help patients with kidney failure, because the level of free radicals in their blood increases as the blood circulates through the dialysis device. That, in turn, may rev up inflammation in their tissues.

In the study, funded by the Israeli Ministry of Health, 101 patients were randomly assigned to either a concoction without pomegranate juice, or the real thing.

After downing about half a cup three times a week over a year, those who drank the real thing had a reduction of inflammatory molecules in their blood.

They also made fewer trips to the hospital.

"We found significant reductions in hospitalization due to infections, with more than 40 percent reduction in the first hospitalization and 80 percent in the second," said Kristal.

However, the researchers were only able to rule out chance as the cause of the reduction in the second visit to the hospital.

According to the findings, among 50 patients drinking pomegranate juice for a year, about two would have to go to the hospital at least twice. By comparison, that number would be nearly 11 in patients not drinking the juice.

The researchers say they don't know if their results extend to other brands as well, and suggest squeezing your own juice. A 16-oz bottle of POM Wonderful sells for about $4.

She said her team had found no side effects, but added that kidney patients should be aware of the high potassium content in the juice, given the delicate balance of nutrients in their blood, and talk to their doctor if they consider drinking it.

Brosius was skeptical of the benefits, although he said the juice was unlikely to cause harm.

"I would prefer to see this validated at other centers before we come out and say this is the thing to do," he said. Even if the findings hold up, he said, it is still unclear what accounts for them. "Who the heck knows what the active ingredients are?"

Marion Nestle, a nutrition expert at New York University, said the effects might not be unique to pomegranate juice.

"This study does not demonstrate anything special about pomegranate juice," she told Reuters Health in an e-mail. "The effects of juice were compared to a placebo, not to any other kind of juice that might have exactly the same effect."

"The pomegranate people are spending millions to prove what I could have told them in the first place," she added. "Pomegranate juices -- like most if not all fruit and vegetable juices -- have antioxidant activity. Does this make pomegranates better than any other fruit? Investigators have yet to show this."

The severity of Parkinson's disease symptoms could be monitored remotely by analyzing speech patterns, saving health authorities time and money and easing the burden on patients, scientists said Wednesday.

Researchers from Britain and the United States analyzed almost 6,000 speech recordings from 42 people with Parkinson's and developed algorithms using the data to estimate how bad the symptoms were.

The results, published in the Royal Society's journal Interface, showed the algorithms were close to assessments made by doctors.

"Currently, monitoring requires frequent visits to hospital where people with Parkinson's are physically examined by expert clinicians in order to assess their symptom severity, putting a strain on both patients and hospital resources," said Max Little of Britain's Oxford University, who worked on the study.

The researchers said they believed the technique, which could be used with patients' speech recordings or over the telephone, could help ease the resource burden on health systems and make it possible to run large-scale trials of experimental treatments for Parkinson's.

Parkinson's is a fatal and incurable brain disease that affects between one percent and two percent of people over the age of 65. It often affects the patient's ability to speak clearly, and sufferers also have tremors, sluggish movement, muscle stiffness and difficulty with balance.

Little said the study provided good evidence that speech impairment and the average overall severity of other Parkinson's disease symptoms are very closely linked, suggesting that symptom severity can be measured just by analyzing speech.

"This sort of remote monitoring -- or 'telemonitoring' -- of people's health is particularly important for people with Parkinson's who may find it difficult to make frequent hospital visits," he said in statement.

"The hope is that our research could pave the way for very large clinical studies of new treatments for Parkinson's where the sort of frequent monitoring required would not otherwise be affordable."

The researchers compared estimates made using the new technique with assessments made by doctors and rated on a standard measure for Parkinson's severity called the Unified Parkinson's Disease Rating Scale (UPDRS).

They found that, based on around 140 speech samples from each of the 42 patients, the estimates made using the algorithms differed from doctors' UPDRS ratings by around two points.

World COPD Day is an annual event organised by the Global Initiative for Chronic Obstructive Lung Disease (GOLD) to create awareness about the chronic obstructive pulmonary disease (COPD) around the world. World COPD Day 2010 is going to take place on Wednesday (November 17) with a theme "2010 - The Year of the Lung: Measure your lung health - Ask your doctor about a simple breathing test called spirometry."

COPD is a substantially under diagnosed disorder, whose diagnosis is delayed until the condition reaches in advanced state. Spirometery is the most frequently used pulmonary function test and enables health professionals to make an objective measurement of airflow obstruction and assess the degree to, which it is reversible, said Dr SK Agarwal, senior professor of department of chest disease, Institute of Medical Sciences, Banaras Hindu University. According to him, the COPD is projected to be the third leading cause of death by 2020.

"The Indian Chest Society (ICS) is seriously concerned about the diagnosis, treatment and prevention of COPD by means of spreading awareness and education about the disease," said Dr JK Samaria, honorary secretary of ICS and senior consultant at the department of chest, IMS-BHU. The society had been continuously performing training and research activities to minimise the impact of the disease, he added. According to him, the COPD is a disease appearing similar to Asthma but much more lethal and different from it. The COPD is characterised by prolonged cough with excess sputum production and breathlessness. Initially the breathlessness is observed after light work out but gradually it may occur even while sitting idle as well. The breathlessness caused due to Asthma can be completely cured after proper medication, but unfortunately same is not the case with COPD.

The chest experts said that the COPD was a major cause of chronic morbidity and mortality throughout the world. It is the fourth leading cause of death in the world, and further increase in its prevalence and mortality can be predicted in coming decades. The GOLD defines COPD as a preventable and curable disease with some significant extra pulmonary effect that may contribute to the severity in individual patients, said Agarwal.

Citing a report from WHO Samaria said that more than 90 percent of COPD mortality involved poor countries with people having lower per capita income. In India the COPD among the rural families is a major cause of concern. Among these females cooking on cow dung and wooden fire is one of the major causes of COPD. The COPD spreads rapidly among people living in rural and semi-urban localities due to use of kerosene stoves for cooking, lack of proper ventilation and usage of mosquito coil. Atmospheric air pollution is yet another major cause of COPD and ever increasing quantum of automobiles and pollution due to their exhaust is making the matter worst.

According to the chest experts, in India clear data is not available but it is suspected that COPD may be one of the major cause of mortality here as well. A survey performed in 2006 at various centres of the country revealed the fact that there were over 40 million COPD patients in India, said Samaria adding that the prevalence of COPD in non-smoking female patients was quite significant. The ratio of male to female COPD patients is as high as 1.5:1 in India.

The big news this World Diabetes Day is one of hope - the possibility of a long, complication-free life with diabetes. Success cases of people who have lived over 40 years after being confirmed as diabetic, even 50 years and 60 years have been documented by city diabetologists.

A study done at Dr. Mohan's Diabetes Specialities Centre (DMDSC) here, by V. Mohan, R.M. Anjana, Ranjit Unnikrishnan and B. Parthasarathy has proven just this.

In about two lakh patients from various DMDSC units whose medical records were analysed, over 200 people have lived 40 years with diabetes. Over 20 have lived for over 50 years, and though smaller in number, there are people who have lived over 60 years after they were diagnosed.

"We ensured that we picked up only those who had confirmed diabetes and were on treatment, all types of diabetes - Type 1, Type 2, Maturity Onset Diabetes of the Young (a genetic disorder inherited that causes disruptions in insulin production) and fibrocalculous pancreatic diabetes (caused by pancreatitis)," Dr. Mohan says.

He goes on to add, "It is generally believed that diabetes affects the lifespan. There is not too much data on this, particularly from India. A couple of Western studies estimated that diabetics live 8-10 years less. In 2006, our CUPS study that followed up 1,262 individuals for six years concluded that the overall mortality among diabetics was higher in Chennai." In Chennai it was 18.9 per 1,000 person-years; comparatively among the non-diabetic population it was 5.3.

However, no one looked at the other side - the longevity of patients with diabetes, Dr. Mohan says. "We now know it is possible among a significant group of people." While genetic studies to see if this group has a protective longevity gene will be done, there is much to learn from their life and control of diabetes, he adds.

Dr. Unnikrishnan, director, DMDSC, says: "They are certainly not sick, or dying, they have a fairly good quality of life. Over 25 per cent of the people who have lived for over 40 years have no complications - of the heart, kidney, eyes, or foot."

Children who had Type 1 diabetes detected as early as three years are now grandparents and great grandparents. Dr. Anjana, director, DMDSC, says: "This busts the myth that kids with Type 1 diabetes will not live long enough or even that they will be unable to bear children."

Another myth - that over time every diabetic moves to insulin - has also been busted. Dr. Unnikrishnan says, "Almost 25 per cent of the T2 who have completed over 40 years of living with diabetes are still taking only tablets."

However, the key is to focus on what is common between the members of this group.

According to Dr. Mohan, "One thing is very clear. They have all been meticulous with treatment for their condition. It also does not matter what the type of treatment is. Some of our older patients had none of the sophisticated, expensive drugs that are available now and, they have lived to tell the tale."

The pattern is clear: They have all been somewhat careful with diet, had regular exercise, periodic blood sugar tests, kept their three month average (HbA1C) as close to 7 as possible.

The key, Dr. Mohan explains, is to keep the blood sugar under control for the first 10 years.

"If you don't do this, whatever else you try later, the game is lost. The message is that if you take your disease seriously right from the beginning, a long and healthy life is indeed possible."