Sunday September 23, 2018

New lupus genes identified by Indian scientist

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New Delhi: 10 new lupus genes were identified by an international Indian-American team of scientists. These genes are associated with the autoimmune disease lupus-a debilitating condition where the body’s immune system becomes unbalanced and attack its own tissues.

Swapan Nath, a scientist at Oklahoma Medical Research Foundation(OMRF), and his colleagues analysed more than 17,000 human DNA samples collected from the blood of volunteers across four countries- South Korea, China, Malaysia and Japan.

Nearly 4,500 samples had confirmed cases of lupus while the rest served as healthy controls for the research.

“We know lupus has a strong genetic basis but in order to better treat the disease, we have to identify those genes,” said Nath.

From that analysis, the researchers identified 10 distinct DNA sequence variants linked to lupus.

Lupus is a chronic, autoimmune disease that can damage any part of the body. Its signs and symptoms tend to last longer than six weeks and often for many years.

This disease has been affecting nearly five million people worldwide, according to the Lupus Foundation of America.

“These findings mark a significant advance in our knowledge base for lupus genes,” said Judith James, director of OMRF’s Autoimmune Disease Institute.

“For every gene we identify, it brings us closer to uncovering the trigger for this puzzling disease. It’s good news for researchers and patients alike,” he added.

One gene known as GTF2I, showed a high likelihood of being involved in the development of lupus according to the study.

“Its genetic effect appears to be higher than previously known lupus genes discovered from Asians, and we surmise that it now may be the predominant gene involved in lupus,” Nath noted in a paper published in the journal Nature Genetics.

The understanding of the disease and development of intervention therapies for patients based on their genetic makeup was identified as the ultimate goal by Nath.(IANS)

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Vatican Children’s Hospital Carries Out A Pioneering Surgery On a 30-month-old

Surgeons performing a laparoscopy have an extremely detailed picture of the patient's anatomy, allowing more precise incisions with a lower risk of bleeding.

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Toddler receives mother's kidney, part of liver in pioneering transplant. Pixabay

Surgeons at the Vatican children’s hospital in Rome have carried out a pioneering surgery in which a Lebanese woman’s kidney and part of her liver were transplanted in her 30-month-old son, who suffers from a rare metabolic disorder.

Doctors at the Bambin Gesu hospital performed path-breaking laparoscopic surgery on the left side of the woman’s liver and on her kidney.

The boy, named Danil, suffers from primary hyperoxaluria, a severe form of a rare metabolic disease called oxalosis, characterised by the formation of calcium oxalate deposits in organs and tissues.

Oxalosis can cause urinary infections and permanent kidney damage, and in the most severe cases, can stunt the patient’s growth and cause brittle bones that are vulnerable to fractures. It affects one in 100,000-333,000 people.

Surgery
All such patients treated at the Bambin Gesu have had dialysis during surgery and several days afterwards, and all the operations have been successful. Flickr

“This operation could be the first of its kind in the world,” the Bambin Gesu said in a statement.

“We are not aware of previous cases in which laparoscopic surgery has been carried out to transplant the same donor’s liver and kidney one after the other.”

The team at the Bambin Gesu that carried out the laparoscopic transplant in Danil of part his mother’s liver was led by Marco Spada, while the transplant of her kidney to the toddler was spearheaded by Luca dello Strologo.

Laparoscopic surgery to transplant a kidney from a living donor to a recipient is well-established, while the use of the minimally invasive technique for liver transplants is a more recent operation that is only done in the most specialist centres and, in Italy, currently only at the Bambin Gesu.

Surgery
Bambin Gesu hospital , Vatican. Flickr

All such patients treated at the Bambin Gesu have had dialysis during surgery and several days afterwards, and all the operations have been successful, according to the hospital. In the past 24 months, it has performed 32 liver or kidney transplants from living donors and 98 from deceased donors.

Also Read: Exposure to Arsenic, Lead may Spike up Risk of Heart Disease

The advantages of laparoscopy include a significant reduction in surgical trauma which reduces the length of time patients need to spend in hospital, less need for painkilling drugs, a lower risk of postoperative complications and a more rapid return to normal life, according to the experts.

And thanks to high-resolution (3K and 4K) and three-dimensional imaging technology, surgeons performing a laparoscopy have an extremely detailed picture of the patient’s anatomy, allowing more precise incisions with a lower risk of bleeding. (IANS)