Congenital Hearing Loss

fap disease gene :: Article Creator Researchers Identify A Gene To Guide Novel Therapeutics Of Nonalcoholic Fatty Liver Diseases Investigators have found that the gene Asah1 plays a crucial protective role in preventing the progression of nonalcoholic fatty liver diseases (NAFLD) into more severe forms of liver disease by regulating hepatic lipid homeostasis and cellular maintenance processes. The findings from the new study in The American Journal of Pathology, published by Elsevier, have the potential to inform new therapeutic strategies and improve outcomes for NAFLD patients. The liver functions as your body's chemical processing plant, handling fats and nutrients. However, today's lifestyle of poor diet choices and lack of exercise can cause too much fat to build up in the liver, leading to a range of metabolic conditions like NAFLD. It is estimated that about 100 million individuals in the United States (about 25% of the population) an...

missing chromosome 17 disorder :: Article Creator Missing Y Chromosome In Mouse Blood Causes Heart Dysfunction When Nettie Steven discovered the Y chromosome in 1905 while studying the mealworm Tenebrio molitor, she identified it as a sex-determining chromosome. As it turns out, the chromosome also has important functions beyond determining sex. According to a study published July 14 in Science, a lack of the Y chromosome in bone marrow cells causes heart failure. The work was led by Lars Forsberg, a geneticist at Uppsala University in Sweden, and Kenneth Walsh of the University of Virginia. Their team zeroed in on mosaic loss of Y chromosome (mLOY), a condition where some of a male's somatic cells, particularly white blood cells, lose the Y chromosome. This condition, which is heavily associated with tobacco smoking, affects more than 40 percent of 70-year-old men in the UK Biobank cohort and is associated with a long list of illnesses, includi...

hemophilia type of disorder :: Article Creator Types And Causes Of Blood Clotting Disorders Blood clotting disorders are inherited or acquired conditions that affect the body's ability to form blood clots. Some types of blood clotting disorders may cause excessive formation of blood clots, which can lead to stroke or heart attack—and other types cause too much bleeding, which can lead to bruising, blood loss, and liver damage. The term coagulation disorder describes conditions that cause excessive blood clots or conditions that cause excessive bleeding. Photoboyko / Getty Images What Is a Blood Clotting Disorder? A blood clotting disorder is a condition that disrupts the healthy formation of blood clots. Blood clotting disorders include conditions that interfere with the body's ability to form blood clots or cause blood to clot too easily.  Blood clotting helps your body heal from injuries. A blood clot is a temporary ...

willebrand disease type 1 :: Article Creator

trisomy in chromosome 21 :: Article Creator Trisomy 21 Pathogenicity: Alzheimer's Disease : Pathogenic, Cerebral Amyloid Angiopathy, Down's SyndromeACMG/AMP Pathogenicity Criteria: PS1, PS2, PS3, PS4, PM1Clinical Phenotype: Alzheimer's Disease, Cerebral Amyloid Angiopathy, Down's SyndromeCoding/Non-Coding: BothDNA Change: DuplicationExpected RNA Consequence: DuplicationExpected Protein Consequence: DuplicationGenomic Region: Chromosome 21 The presence of three copies of chromosome 21, which harbors the amyloid precursor protein (APP) gene, is the most common genetic cause of Alzheimer's disease. Carriers of this alteration have Down syndrome (DS), a condition that results in cognitive disability, alterations in craniofacial morphology, increased risk of congenital heart defects, immune disorders, reduced sense of smell, and a very high risk of developing AD (Antonarakis et al., 2020). Most commonly, trisomy 21 arises because ...

trisomy 13 edwards syndrome :: Article Creator Maternal Age And Trisomy Maternal age and trisomy This shows maternal-age-specific estimates of trisomy among all clinically recognized human pregnancies, generated by combining data from individual trisomies and assuming a spontaneous abortion rate of ~15%. Not all individual trisomies manifest the same slope as seen here; for example, for trisomy 16, the commonest of all human trisomies, the increase is essentially linear. So, non-disjunctional mechanisms associated with maternal age must vary among different human chromosomes. There is also an apparent "bump" in trisomy among teenage girls. This slight increase has also been observed in several studies of Down syndrome, and might reflect a tendency to non-disjoin in the earliest ovarian cycles of the human female. Aneuploidies disturb the delicate ...

hemophilia a therapy :: Article Creator The Benefits Of Sustaining High Factor VIII Levels In People With Hemophilia A ABSTRACT Hemophilia A is a bleeding disorder caused by a deficiency in clotting factor VIII (FVIII), leading to recurrent joint bleeds, musculoskeletal damage, and chronic pain. The World Federation of Hemophilia (WFH) recommends prophylactic FVIII replacement therapy to reduce bleeding risk, yet joint deterioration and pain persist. Maintaining high FVIII levels provides clinical benefits but requires awareness of best practices and managed care considerations. This publication examines the clinical and economic impact of hemophilia A, treatment goals, FDA-approved therapies, and managed care factors. People with hemophilia experience lower bone mineral density, increased osteoporosis risk, and significant effects on mental health, mobility, and quality of life. Treatment options—including standard and extended half-life FVIII the...