Congenital Hearing Loss

poly vera blood cancer :: Article Creator When Polycythemia Vera Turns Into Another Cancer SOURCES: American Cancer Society: "What are Myelodysplastic Syndromes?" Blood Cancer Journal: "Blast Transformation and Fibrotic Progression in Polycythemia Vera and Essential Thrombocythemia: A Literature Review of Incidence and Risk Factors,"  "Polycythemia Vera Treatment Algorithm 2018." Canadian Cancer Society: "Polycythemia Vera." Leukemia & Lymphoma Society: "Myelofibrosis Facts," "Polycythemia Vera Facts." Mayo Clinic: "Acute Myelogenous Leukemia," "Polycythemia Vera," "Myelodysplastic Syndromes." MedPage Today: "Polycythemia Vera to Blast Phase: New Findings." Medscape: "Polycythemia Vera Follow-Up." MPN Research Foundation: "What is Primary Myelofibrosis?" "Understanding the Symptoms of MPNS." National...

sma genetic testing :: Article Creator Medical Ethics: Genetic Testing And Spinal Muscular Atrophy Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by degeneration of motor neurons, thereby leading to progressive muscle weakness and atrophy. SMA is caused by the deletion of, or a mutation in, the survival motor neuron 1 (SMN1) gene on chromosome 5. The SMN locus on chromosome 5 is fairly complex and includes multiple copies of the SMN gene. In fact, the number of gene copies, as well as the number and types of mutations present in these copies, act together to influence the disease phenotype. SMA affects between 1 in 6,000 and 1 in 10,000 babies, and approximately 1 out of every 80 individuals is a carrier of the disease mutation in the SMN1 gene. These statistics mean that SMA is one of the more common human genetic disorders. The SMA phenotype is widely variable, with the severity of symptoms influenced by several g...

small artery disease brain :: Article Creator What Is Vasospasm? Humans rely on blood vessels called arteries to carry oxygen-rich blood to all parts of our bodies. Vasospasm occurs when an artery suddenly narrows and the blood supply is drastically reduced. It most often happens in the brain or in the heart. The results can be serious. Sometimes the term vasospasm is used to describe the narrowing of small blood vessels in the hands. "Vaso" means vessel. A spasm is a sudden muscular contraction. A vasospasm is a sudden contraction of the muscular walls of a blood vessel. In some cases, we know what causes the muscles to contract. Other times it's a mystery.  Cerebral relates to the brain. A cerebral vasospasm almost always follows another major event inside the skull, called a subarachnoid hemorrhage (SAH). This is a kind of stroke that happens when a blood vessel on the surface of the brain breaks. Blood fills the space between...

asymptomatic hemophilia a carrier :: Article Creator HEMOPHILIA A: EXPERIENCE WITH PRENATAL DIAGNOSIS AND CARRIER DETECTION USING DNA ANALYSIS Prenatal diagnosis and carrier detection of hemophilia A using DNA analysis has been attempted in 113 families since February 1985. DNA polymorphisms within and linked to the factor VIII (F8) gene were used as markers for the defective FB gene in these families. When possible, diagnosis was preferentially based on DNA markers within the F8 gene, while in about 25% of families, diagnosis was based on DNA markers linked to the F8 (theoretical error rate in these latter cases is 1-5%). The results of these studies are as follows: Prenatal Diagnosis: 64 families. Diagnoses made: 45 (normal males: 20, affected males: 14, carrier females: 5, noncarrier females: 6). Diagnoses not made: 26 [Because a) the carrier status of a female fetus was not requested, b) pregnancy was terminated prior to testing, or c) family wa...

cdkl5 deficiency disorder :: Article Creator Baylor Genetics Announces Epilepsy Panel Baylor Genetics Latest Panel Analyzes 397 Genes Associated with Several Epilepsy Conditions, Offering an Analysis of Well-studied, Actionable Genes Related to Many Syndromic and Non-Syndromic Epileptic Disorders HOUSTON, July 11, 2023 (GLOBE NEWSWIRE) -- Baylor Genetics, a clinical diagnostic laboratory at the forefront of genetic testing and precision medicine, today announced the availability of an Epilepsy Panel and a STAT Epilepsy Panel - with the latter intended for patients with new onset or change in seizure frequency or character. The Epilepsy Panel analyzes 397 genes associated with epilepsy, including Angelman syndrome, Rett syndrome, SCN1A-related epilepsies, CDKL5 deficiency disorder, Charcot-Marie-Tooth diseases, and developmental and epileptic encephalopathies (DEE). This panel is performed on an exome backbone via next-generation sequencing. ...

coagulation disorders in hindi :: Article Creator Abnormal Uterine Bleeding May Be Caused By Clotting Factor Deficiencies A new review article illuminates why physicians should keep coagulation disorders in mind when evaluating patients with heavy abnormal uterine bleeding. Physicians treating patients with heavy menstrual bleeding (HMB) should consider the possibility that rare bleeding disorders and hemophilia carrier states are at play if other, more common causes of bleeding have been excluded, according to a new report. The report, a literature review published in Life (Basel),1 outlines several coagulation disorders and offers physicians guidelines on how to spot and treat hemostatic disorders. Authors explain that current literature suggests 10% to 35% of women experience HMB at some point during their reproductive years. There are several potential causes of such bleeding, and physicians can use the PALM-COEIN system to help identi...

macrocytic anemia types :: Article Creator 6 Types Of Anemia In A Child And Their Symptoms Types of Anemia In A Child The common types of anemia in children include iron deficiency, sickle cell and aplastic anemia. 26 Jun, 2023 The Health Site Web Desk What is Anemia? Anemia is a condition characterised by a deficiency of healthy red blood cells or haemoglobin, leading to reduced oxygen-carrying capacity and potential fatigue or weakness. Source: Thehealthsite Iron-Deficiency Anemia The first type of anemia is Iron-Deficiency Anemia. Inadequate iron levels impacts the body's ability to produce haemoglobin, resulting in reduced oxygen-carrying capacity and fatigue. Iron-rich foods and supplements can help manage this type of anemia. Source: Thehealthsite Vitamin B12 Deficiency Anemia Another type of anemia in children is Vitamin B12 Deficiency Anemia. Insufficient vitamin B12 affects the production of healthy red b...