Articles tagged with Congenital Disorders
A study found that maternal obesity increases the risk of congenital abnormalities of the kidney and urinary tract in children. Being overweight was not linked with an increased risk. The research highlights the importance of addressing obesity as a public health concern.
Researchers evaluated potential age-promoting compounds using a novel mouse model, finding that UV light exposure and cigarette smoke increased p16INK4 expression, while a high-fat diet did not accelerate this process. This study demonstrates the utility of the p16LUC mouse model for evaluating age-promoting agents.
Researchers identified a chromosomal deletion in the CFHR gene cluster, resulting in production of a hybrid CFHR2/CFRH5 that stabilized C3 convertase. Treatment with soluble C1 restored C3 convertase decay and may be a promising treatment option for patients with refractory dense deposit disease.
Researchers identified a family with two of three children affected by CDD, both carrying a rare DGAT1 gene mutation. The study suggests targeting DGAT1 could cause severe diarrheal disorder in individuals with the mutation.
Researchers used next-generation sequencing to identify genetic causes of developmental delays and congenital abnormalities in seven out of twelve patients. The study found that the technology can provide a diagnosis about half of the time, motivating its use for patients with unknown genetic conditions.
Researchers discovered a gene responsible for congenital mirror movements disease, which affects motor skills and hand movement coordination. The RAD51 gene is involved in the transmission of brain signals between the left and right sides of the body.
A rare subset of diseases affecting the lymphatic system, including lymphangiomatosis and Gorham's disease, are focused on in a special issue of Lymphatic Research and Biology. The articles shed light on current knowledge, ongoing research, and key differences from other lymphatic disorders.
Researchers have developed a mouse model that can treat a severe congenital disorder by supplementing pregnant mice with mannose, increasing the production of essential sugar chains. This breakthrough may offer a new therapeutic approach for children with CDG-Ia, who currently have no treatment options.
Researchers at The Donald Danforth Plant Science Center have discovered that green tea polyphenols can control a deadly congenital disease by hijacking the ADP activation site. This finding has also been validated in two types of tumors, glioblastomas and tuberous sclerosis complex disorder, suggesting potential for drug development.
A cohort study found that male cancer survivors had a 17% increased relative risk of major congenital malformations in their offspring, which was not significantly affected by assisted reproductive technologies (ARTs) or specific cancer treatments.
A new research paper proposes a six-step decision-making approach to facilitate shared decision-making between parents and physicians for infants born with genetic or anatomical anomalies in sexual development. The process aims to clarify reasons, identify gaps in understanding, and explore values underlying decisions. By working on th...
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.