Congenital Hearing Loss

xyy syndrome cause :: Article Creator X Y Chromosomes In the imprinted brain theory, everyone's brain is configured somewhere on a spectrum between hypomentalism and hypermentalism. In hypomentalism, the mechanistic, paternal genes are over-expressed, creating a baby with a larger head who demands more from the mother; this child is more likely to have autism. In hypermentalism, the mentalistic, maternal genes are over-expressed; the baby is likely to have a smaller head, demand less from the mother, and develop psychosis. The normal brain falls somewhere between the two extremes, ensuring that the child exhibits neither autism nor psychosis. Compartment Syndrome: What Is It? Compartment syndrome occurs when excessive pressure builds up inside an enclosed muscle space in the body. The condition usually results from bleeding or swelling after an injury. The dangerously high pressure in compartment syndrome slows the flow of blood , oxygen, ...

late onset tay sachs :: Article Creator Rare Diseases And Orphan Drugs Need Digital Innovation More patient-centric study design, using mHealth for longer-term monitoring, will address many of the inherent challenges in conducting pivotal clinical trials in rare diseases, argues Elin Haf Davies. Pharma companies are leveraging digital health data more than ever before to improve clinical trials, in a bid to develop drugs that could have a significant impact on patients' lives. No area could benefit more from this disruptive approach than the rare disease sector and the development of orphan drugs: an area of high unmet therapeutic need and large financial investment. There are estimated to be between 6,000 and 8,000 rare diseases affecting up to 60 million people across Europe and the US. The orphan drug sector is expected to experience strong growth over the coming years; EvaluatePharma (2014) estimates total orphan drug sales of $176 bil...

hypothyroidism and high red blood cell count :: Article Creator Understanding MCHC Blood Test Results Mean corpuscular hemoglobin concentration (MCHC) is a measurement of the amount of hemoglobin a red blood cell has relative to the cell's volume. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. Measuring hemoglobin through an MCHC blood test can help determine whether you have a medical condition; MCHC levels that are too low or high can signal several different conditions. MCHC is a standard measurement in the diagnosis of anemia, a condition marked by low levels of red blood cells that can cause tiredness or weakness. An MCHC test is generally also performed to help diagnose and monitor other conditions, including sickle cell disease, hyperglycemia (high blood sugar), and hematology, among others. MCHC is one of the measurements taken during a complete blood count (CBC). A CBC is a common blood t...

chromosomal disorders down syndrome :: Article Creator Diagnosing Down Syndrome, Cystic Fibrosis, Tay-Sachs Disease And Other Genetic Disorders Sometimes, a pediatrician will suspect that a child has a genetic disorder based on the child's symptoms or on the presence of dysmorphic features. For example, if a child has coarse facial features and developmental delays, a pediatrician may have reason to believe that the child has a form of mucopolysaccharidosis. Mucopolysaccharidosis is a family of diseases caused by an enzyme deficiency that leads to the accumulation of glycosaminoglycans (GAGs) within the lysosomes of cells. In one particular variant of this disease known as mucopolysaccharidosis I (MPS I), a deficiency of the enzyme alpha-L-iduronidase causes a build up of GAGs in tissues and organs, which in turn leads to a host of signs including skeletal deformities, coarse facial features, enlarged liver and spleen, and mental deficiencies. B...

cma chromosomal microarray :: Article Creator Bionano Announces Publication Of Largest Prospective Prenatal Study Comparing OGM To Chromosomal Microarray Analysis And Karyotyping Bionano Genomics Key findings from prospective evaluation of 200 prenatal samples: Optical genome mapping (OGM) detected pathogenic structural variants (SVs) in 20.5% of samples (41/200); combination of chromosomal microarray analysis (CMA) and karyotyping (KT) detected pathogenic SVs in 19.5% of samples (39/200) Compared to CMA and KT combined in this prospective cohort, OGM had the following performance: For 8 copy number variants (CNVs) detected by CMA, OGM defined their location and orientation and revealed that they were 6 tandem duplications and 2 unbalanced cryptic translocations In 4% of samples (8/200), OGM identified D4Z4 repeat contractions on the permissive 4qA haplotype that may indicate facioscapulohumeral muscular dystrophy type 1 (F...

hemophilia b autosomal recessive :: Article Creator Everything To Know About Hemophilia B Hemophilia B is also known as Christmas disease. It's a rare genetic blood clotting disorder that can be fatal without treatment. A person is born with hemophilia B, but it may not be diagnosed until later in life. It's estimated that two-thirds of cases are inherited, according to the National Hemophilia Foundation. The other cases are caused by spontaneous gene mutations that occur for unknown reasons during fetal development. The disease occurs almost exclusively in people who are male. Read on to learn what causes hemophilia B, its symptoms, and how it's treated. Hemophilia B is a type of hemophilia, with the other types being hemophilia A and hemophilia C. It is also known as factor IX hemophilia and is a rare genetic disorder in which your blood does not clot properly. The condition is also sometimes called Christmas ...