Category Archives: Congenital disorders

EPI-WIN webinar: Zika virus: learning from the past, preparing for the future

Outbreaks of Zika virus disease have been noted since 2007; however, the unprecedented epidemics in the Western Pacific and then the region of the Americas have highlighted the significant public impact of this virus, notably through causation of congenital microcephaly and neurodevelopmental disorders after infection in pregnancy, increased Guillain-Barré syndrome and other neurological manifestations. This […]

Bronny James diagnosed with congenital heart defect, family confident he will return to basketball

Bronny James, the 18-year-old son of Los Angeles Lakers superstar LeBron James, suffered a sudden cardiac arrest during a basketball practice at USC’s Galen Center in July, and the James family announced on Friday that Bronny has been diagnosed with a congenital heart defect. The “probable cause” of Bronny’s sudden cardiac arrest was an “anatomically […]

How Is Haemoglobin Related To The Genetic Disorder Porphyria?

Porphyria results from defects in enzymes involved in the synthesis of heme. The deficiency or malfunction of enzymes leads to the accumulation of porphyrins, which can cause a range of symptoms. Written by saumya pandey |Published : August 26, 2023 2:01 PM IST Haemoglobin is protein found in red blood cells that carries oxygen, it […]

China Focus: China achieves progress in disability prevention, treatment

BEIJING, Aug. 25 (Xinhua) — China has seen substantial progress in advancing a five-year national action plan on disability prevention, said the National Health Commission (NHC) at a press conference ahead of the seventh National Disability Prevention Day that falls on Friday. The action plan, designed for the period from 2021 to 2025, laid out […]

Pictet Asset Management Reduces Stake in Globus Medical as Company Demonstrates Strong Financial Performance

Pictet Asset Management SA, a global investment management firm, recently decreased its stake in Globus Medical, Inc. (NYSE:GMED) during the first quarter of this year. According to the company’s filing with the Securities and Exchange Commission (SEC), Pictet Asset Management SA sold 10,450 shares, resulting in a 9.1% decrease in its ownership of GMED stock. […]

Prognostic models for estimating severity of disease and predicting 30-day mortality of Hypervirulent Klebsiella pneumoniae infections: a bicentric retrospective study

Russo TA, Marr CM. Hypervirulent Klebsiella pneumoniae. Clin Microbiol Rev. 2019;32(3):e00001-00019. PubMed  PubMed Central  Google Scholar  Maheswaranathan M, Ngo T, Rockey DC. Identification and management of the Hypervirulent invasive Klebsiella pneumoniae syndrome: a unique and distinct clinical entity. J Invest Med High Impact Case Rep. 2018;6:2324709618806552. Google Scholar  Shon AS, Bajwa RP, Russo TA. Hypervirulent […]

Novel epigenetic molecular therapies for imprinting disorders

Abstract Genomic imprinting disorders are caused by the disruption of genomic imprinting processes leading to a deficit or increase of an active allele. Their unique molecular mechanisms underlying imprinted genes offer an opportunity to investigate epigenetic-based therapy for reactivation of an inactive allele or reduction of an active allele. Current treatments are based on managing […]