Tuesday December 11, 2018

Delhi hospital treats 41-year-old man with extremely rare tumour-induced Bone condition

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Operating theatre in India, Wikimedia Commons
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New Delhi, March 5, 2017: Doctors here have successfully treated a 41-year-old man with an extremely rare tumour-induced condition that caused bone fragility, fractures and left him wheelchair-bound.

Tumour-induced osteomalacia is an extremely rare disorder where benign small soft tissue or bone tumours develop in the body and start secreting a substance that inhibits the absorption of phosphates, causing a cascade of biochemical abnormalities including extremely fragile bones.

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“So rare is this condition that many doctors fail to get to the root of it. A majority of these tumours are located in the extremities (skin, muscles, and bones) or around the head, but they may occur in almost any part of the body. These tumours are slow growing and often remain hidden or undetected until clinical features reach a fairly advanced stage,” Endocrinologist at Venkateshwar Hospital in Dwarka Deep Dutta said in a statement on Saturday.

Progressive weakness in legs over three years coupled with a fracture had left Ravi Sharma (name changed) wheelchair-bound.

Doctors found that he had extremely low serum levels of phosphorus (1mg/dl) — key structural component of bone apart from calcium — in urine, which led to skeletal weakness and fractures.

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An FDG (fluorodeoxyglucose)-PET scan confirmed the presence of tumour-induced osteomalacia at the lower end of the femur bone and later a CT-scan revealed an extremely small lesion of 1 cm diameter, and was successfully removed by the doctors.

“Within 24 hours of surgery, we found the patient’s phosphorus levels improved to 3.3mg/dl, and he regained his physical strength and was able to start walking with support. We have reduced Ravi’s oral phosphate replacement dose significantly and we expect he will be totally off phosphate replacement in the next few days. All biochemical and clinical features reverted to normal when the tumour was removed,” Dutta said. (IANS)

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A Comprehensive Study Of Parasitic Worms Release Numerous Anwers

The analysis found almost a million new genes that had not been seen before, belonging to thousands of new gene families, and identified many new potential drug targets and drugs.

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parasitic Worm
A giant 25m worm representing the parasitic worm of schistosomiasis, that causes significant suffering and death to thousands of people around the world, is pictured on the Lake Leman on the occasion of the Neglected Tropical Diseases Summit, in Geneva, Switzerland. VOA

The largest study to date of the genetic makeup of parasitic worms has found hundreds of new clues about how they invade the human body, evade its immune system and cause disease.

The results point to potential de-worming treatments to help fight some of the most neglected tropical diseases — including river blindness, schistosomiasis and hookworm disease — which affect around a billion people worldwide.

“Parasitic worms are some of our oldest foes and have evolved over millions of years to be expert manipulators of the human immune system,” said Makedonka Mitreva of Washington University’s McDonnell Genome Institute, who co-led the work with colleagues from Britain’s Wellcome Sanger Institute and Edinburgh University.

parasitic Worm
World’s longest tapeworm. wikimedia

She said the results of this study would lead to both a deeper knowledge of the biology of parasites and a better understanding of how human immune systems can be harnessed or controlled.

Parasitic worm infections can last many years and can cause severe pain, physical disabilities, retarded development in children and social stigma linked to deformity.

Current medicines to combat them — including drugs made by Sanofi, GSK and Johnson & Johnson — can be moderately effective and are often donated by drugmakers or sold at reduced prices to those who need them. But the spectrum of drugs to treat worm infections is still limited.

To try to improve the potential drug pipeline and to understand how worms invade and take up residence inside humans and other animals, the research team compared the genomes of 81 species of roundworms and flatworms, including 45 that had never previously had their genomes sequenced.

parasitic Worm
How gut microbiota can aid in early diagnosis of liver cancer.

The analysis found almost a million new genes that had not been seen before, belonging to thousands of new gene families, and identified many new potential drug targets and drugs.

Also Read: Genes Tied To Obesity May Lower Risk Of Diabetes

“We focused our search by looking at existing drugs for human illnesses,” said the Sanger Institute’s Avril Coghlan, who worked on the team. She said this offered a possible fast-track route “to pinpointing existing drugs that could be repurposed for deworming.”

The study’s findings were published Monday in the journal Nature Genetics. (VOA)