Congenital Hearing Loss

tuberous sclerosis genetic testing :: Article Creator Next-generation Sequencing In Ocular Oncology Brings Advances In Diagnosis, Management Today's technology proves faster, better, cheaper. (Image Credit: AdobeStock/Cavan) Reviewed by J. William Harbour, MD Next-generation sequencing (NGS), or massively parallel sequencing, is a recent advancement in DNA technology that allows for the analysis of genetic material much more quickly and at a lower cost than previously possible. Traditionally, analyzing genetic material required creating physical maps, performing single-gene sequencing, or using gene panels. J. William Harbour, MD, an ocular oncology specialist, discussed how modern genetics advances the understanding of ocular cancer onset and progression during the Masonic Charity Foundation of Oklahoma Distinguished Lecture Series at the Dean McGee Eye Institute in Oklahoma City, Oklahoma. Harbour is a professor and holds the...

tranexamic acid von willebrand disease :: Article Creator Manifestation Of A Congenital Disorder Many thanks for the detailed and successful article on the topic of epistaxis. Please allow me to express a point of criticism, however: although coagulopathies were mentioned among the causes of epistaxis (the syndrome is no longer called "Willebrand-Jürgens syndrome", but is known as "von Willebrand syndrome"), hemostaseological diagnosis and treatment are neither included in the algorithm (Figure 2) nor are they mentioned in the list of CME questions (1). Repeated nosebleeds, especially if common in entire families (the family medical history was also omitted) may be the manifestation of a congenital or acquired disorder and, not least in view of future surgical interventions, should be investigated hemostaseologically. With a prevalence of 1%, the von Willebrand syndrome is not rare and may require treatment with desmopressin, trane...

define hemophilia b :: Article Creator What Is Hemophilia? Symptoms, Causes, Diagnosis, And Treatment It's common for people who have or have had family members with hemophilia to get their baby boys tested for the condition shortly after they're born. About one-third of babies who have hemophilia have no relatives with the disorder, so infants may be evaluated if they show symptoms. [9] Ideally, testing is planned before the baby's birth so that a blood sample can be drawn from the umbilical cord. Umbilical cord blood testing is better at discovering low levels of factor 8 than at finding low levels of factor 9, because factor 9 levels are not at a normal level until a baby is at least 6 months old. Two types of tests are used for diagnosis: screening tests and clotting factor tests, which are also called factor assays. Screening Tests Screening tests are blood tests that reveal whether the blood is clotting properly. There ar...

genetic nerve disorders :: Article Creator Huntington's Disease: The Genetic Brain Decay The health landscape is already grappling with a slew of neurological disorders like cerebral palsy, dementia, Alzeimer's, Parkinson's and so on. The latest to haunt the brain and its nerve cells is Huntington's disease (HD). But what is it actually? Decoding HD HD is a neurological condition that affects the brain, inducing the neurons or nerve cells to decompose and get defunct over time. As a result, this adversely impacts mental health and vital cognitive skills like voluntary body movement, memory, thinking capacity, behavioural patterns and personality traits. "Well, to put it in simple terms, just imagine your brain to be a complex computer, and Huntington's disease a technical glitch that disrupts the way it works. It's a progressive disorder that can cause problems with movement, remembering and emotions, thus making every...

18p minus syndrome :: Article Creator

chromosomal disabilities :: Article Creator Somatic Mosaicism And Chromosomal Disorders Some examples of single-gene diseases that are associated with somatic mosaicism are listed in Table 1. Hereditary tyrosinemia type I is caused by mutations in the fumarylacetoacetate hydrolase (FAH) gene; individuals with this disease often have mosaic livers that contain mutant and reverted cell populations. The groups of cells with the FAH reversion form nodules and appear to have a growth advantage. Bloom syndrome is a single-gene autosomal recessive disorder associated with growth problems, immunodeficiency, and a predisposition for cancer. The gene associated with Bloom syndrome, called BLM, encodes an enzyme called DNA helicase that prevents DNA strands from getting too twisted during DNA replication. Patients with Bloom syndrome show high levels of recombination events between sister chromatids during mitosis. Fanconi's anemia is associated with grow...

fetal chromosomal microdeletion :: Article Creator

humate p von willebrand :: Article Creator Humate-p Humate-p Generic Name & Formulations General Description Antihemophilic Factor VIII/Von Willebrand Factor Complex (human) 250 IU FVIII + 600 IU VWF, 500 IU FVIII + 1200 IU VWF, 1000 IU FVIII + 2400 IU VWF; per vial; lyophilized pwd for IV infusion after reconstitution; contains albumin. Pharmacological Class Coagulation factor complex. How Supplied Single-use vials—1 (w. Diluent, supplies) Humate-p Indications Indications Treatment and prevention of bleeding in adults with Hemophilia A. Treatment of spontaneous and trauma-induced bleeding, and prevention of excessive bleeding during and after surgery in adults and children with von Willebrand disease (VWD). Humate-p Dosage and Administration Adult Max injection rate: 4mL/min. Hemophilia A: Minor bleed: 15 IU FVIII/kg (obtain 30% FVIII increase) once; if needed, may give ½ dose once or twice daily for 1–2 days...

chromosome 17 nf1 :: Article Creator Learn About Neurofibromatosis What is NF? Neurofibromatosis (NF) is a term that refers to at least three distinct, hereditary disorders caused by an abnormality in a gene. These disorders include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. While NF1 is caused by an alteration, or mutation, in a gene located on chromosome 17, both NF2 and schwannomatosis are caused by mutations in genes located on chromosome 22. Learn more about the symptoms, diagnosis, causes, and treatment options for each of the three distinct types of neurofibromatosis. Neurofibromatosis type 1 (NF1) is a common inherited neurological disorder affecting about 1 in 3,000 people worldwide. Learn more > Neurofibromatosis type 2 (NF2) affects 1 in 25,000 people and often causes partial or complete hearing loss in both ears. Learn more > Schwannomatosis is a rare form of neurofibromatosis that...

diseases caused by protein mutation :: Article Creator Unique Brain Plaques Linked To Alzheimer's Mutation Decoded Summary: Researchers have identified the structure of amyloid beta fibrils linked to a rare inherited form of Alzheimer's disease caused by the Arctic mutation. Using cryo-electron microscopy and NMR, they revealed a W-shaped fibril structure that explains the formation of cottonwool plaques—large, spherical brain structures unique to this mutation. These findings enhance our understanding of Alzheimer's mechanisms and could guide the development of targeted therapies. This structural analysis offers hope for treating specific subtypes of Alzheimer's and advancing antibody-based treatments. Key Facts: The Arctic mutation creates W-shaped amyloid fibrils, forming cottonwool plaques. Cottonwool plaques are 10x larger than typical plaques seen in Alzheimer's. Structural insights into amyloid fibrils may guide ...