Medical research

Defective degradation enzyme triggers hereditary storage diseases

In rare hereditary storage diseases such as Sandhoff's disease or Tay-Sachs syndrome, the metabolic waste from accumulating gangliosides cannot be properly disposed of in the nerve cells because important enzymes are missing. ...

Genetics

Tracing the history of aggrecan gene mutations

On Sunday, April 28, a team of researchers received the 2019 Human Growth Award at the Pediatric Endocrine Society's Annual Meeting for their abstract, entitled "Clinical Characterization and Trial of Growth Hormone in Patients ...

Diseases, Conditions, Syndromes

New guidelines to diagnose, manage rare endocrine disorders

International guidelines have been published for the first time to help doctors around the globe diagnose and manage patients with a very rare set of endocrine diseases known as pseudohypoparathyroidism and its related disorders, ...

Medications

Mepsevii approved for rare enzyme disorder

(HealthDay)—Mepsevii (vestronidase alfa-vjbk) has been approved by the U.S. Food and Drug Administration to treat a rare, genetic disorder called mucopolysaccharidosis type VII, sometimes called Sly syndrome.

Surgery

Lung transplant criteria biased against shorter patients

Short people have several health advantages over tall people, including lower risk for cancer and heart disease, and longer life expectancy. But there's at least one health-related downside to being small: the odds of getting ...

Oncology & Cancer

Team discovers a link between a rare form of anemia and cancer

Researchers from the Tumour Suppression Group at the Spanish National Cancer Research Centre (CNIO), headed by Manuel Serrano, have discovered the molecular mechanisms that determine cancer predisposition in patients with ...

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