Articles tagged with Congenital Disorders
Hermansky-Pudlak syndrome (HPS) is a bleeding disorder caused by platelet function defects. A rare case of HPS presents with gastroduodenal ulcers, which may be confused with bleeding due to the underlying platelet issue.
A recent study by Dr. Wolfgang Paulus found no increased risk of congenital abnormalities in children born to mothers taking the antidepressant paroxetine during early pregnancy. The researchers suggest that a reliable pharmaco-vigilance system is crucial for documenting fetal outcomes, but more funding and support are needed.
Researchers found abnormal brain activity in the right half of the brain in people with congenital amusia, a condition affecting pitch perception. Training pitch discrimination abilities may be effective in children but not adults.
A study found that EBCT outperforms traditional angiography in identifying coronary artery abnormalities, particularly those that pose a risk of blockage. The imaging modality's accuracy was confirmed through joint review by cardiologists and radiologists.
Recent findings in cystic fibrosis (CF) suggest that gene mutations can cause unexpected effects, leading to distinct conditions with clinical similarities to CF. Minor mutations may result in partial disease manifestations, challenging traditional notions of genetic screening and diagnosis.
Researchers have cloned a gene that causes zebrafish to develop a disease similar to congenital sideroblastic anemia (CSA) in humans. The sauternes mutation reveals a new mechanism behind the disease, potentially illuminating relevance for studying CSA in fish.