Congenital Hearing Loss

autoimmune platelet disorder :: Article Creator What Is A Platelet Count Blood Test, And What Do My Results Mean? A platelet count measures the average platelet level in a person's blood. High or low platelet levels can increase the risk of clotting or excessive bleeding. Platelets, also called thrombocytes, are fragments of larger cells made in the bone marrow called megakaryocytes. These fragments are crucial to wound healing. Abnormal platelet levels can lead to various health complications. This article discusses the process of a platelet blood test and what the results mean. The mean platelet count blood test is typically part of a complete blood count (CBC) test. A CBC reveals important information about the number of different blood cells in the body. A platelet count test reveals the average number of platelets a person has per microliter of blood. Doctors can perform the test independently or ...

von willebrand factor and factor 8 :: Article Creator Factor VIII Treatment Video Perspectives Sign Up for Email Get the latest news and education delivered to your inbox Specialty Subscribe The email address associated with your Healio account is: If you would like to edit or change the email address that your subscriptions and alerts are sent to, use the "Update email address" link. Update email address '); $('.Placeholder').On('click', function(){ $(this).Prev('input[type="email"]').Focus(); }) } } (function () { ...

trisomy 11q syndrome :: Article Creator

xy male syndrome :: Article Creator The Intersex Spectrum   The Intersex Spectrumby Carl Gold Physical gender is not always just a matter of XX or XY, girl or boy. In approximately one out of every 100 births, seemingly tiny errors occur during the various stages of fetal sex differentiation, causing a baby's body to develop abnormally. Problems in the formation of chromosomes, gonads, or external genitals can lead to a range of intersex conditions. The most common and well-researched of these conditions are explained below. For information on intersex conditions not mentioned here, see http://www.Hopkinsmedicine.Org/pediatricendocrinology/. Congenital Adrenal Hyperplasia (CAH)—One in 13,000 birthsTwo hormones are critical in normal sex differentiation. The testes of normal 46,XY males secrete both Müllerian Inhibiting Substance (also known as MIS or antimüllerian hormone) and masculinizing androgenic hormones, while the ovaries of a normal 46,...

chromosome deletion syndromes list :: Article Creator Deletions And Inverted Duplication Chromosomes. deletions and inverted duplication chromosomes. Ideograms and partial karyotypes are shown. For the deletions, the arrows indicate a) the deletion of chromosome 15q11-13 associated with Prader-Willi and Angelman syndromes, and b) the deletion of 22q11.21-11.23 (bottom) associated with DiGeorge and velocardiofacial syndromes. C) For the inverted duplications, the ideograms and partial karyotypes of two chromosome 15s show the two different sizes of inv dup (15) chromosomes. The smaller inv dup (15), on the left, is not associated with phenotypic abnormalities, whereas the larger inv dup (15), on the right, is associated with an abnormal phenotype (the central two are normal chromosome 15). D) The inv dup (22) (right) is associated with the cat eye syndrome. ...

down syndrome chromosomal abnormality :: 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....

genetic eye diseases list :: Article Creator Correcting The Mutation Behind A Genetic Eye Disease Researchers delivered base-editing tools using a modified viral vector to correct a retinal disease-causing mutation. Injecting the gene-editing machinery in mouse retina resulted in expression of the base editor (white) in photoreceptor cells (bright blue). Outer segments of photoreceptor cells are depicted in green. Wibke Schwarzer, Mantian Wang (IOB) Almost 200 million people worldwide suffer from macular degeneration, a condition that affects central vision and can result in near blindness.1 Although most forms of macular degeneration affect older people, those caused by mutations in a single gene are usually more severe and affected people show signs at a young age.2 Among the forms of monogenic macular degeneration, the most common is Stargardt disease. This disease is caused by mutations in the ATP-binding cassette transporter alpha 4 subun...

the trisomy of 21st chromosome causes :: Article Creator Trisomy 21 Causes Down Syndrome One could argue that the presence of extra copies of chromosome 21 in DS patients is only a correlation between an abnormality and the disease. However, scientists have developed trisomic mouse models that display symptoms of human DS, providing strong evidence that extra copies of chromosome 21 are, indeed, responsible for DS. It is possible to construct mouse models of DS because mouse chromosomes contain several regions that are syntenic with regions on human chromosome 21. (Syntenic regions are chromosomal regions in two different species that contain the same linear order of genes.) With mapping of the human and mouse genomes now complete, researchers can identify syntenic regions in mouse and human chromosomes with great precision. As shown in Figure 4, regions on the arms of mouse chromosomes 10 (MMU10), 16 (MMU16), and 17 (MMU17) are syntenic with regi...

kallmann syndrome female :: Article Creator

chromosome 12 diseases :: Article Creator Mendelian Genetics: Patterns Of Inheritance And Single-Gene Disorders Autosomal recessive single-gene diseases occur only in individuals with two mutant alleles of the disease-associated gene. Remember, for any given gene, a person inherits one allele from his or her mother and one allele from his or her father. Therefore, individuals with an autosomal recessive single-gene disease inherit one mutant allele of the disease-associated gene from each of their parents. In pedigrees of families with multiple affected generations, autosomal recessive single-gene diseases often show a clear pattern in which the disease "skips" one or more generations. Phenylketonuria (PKU) is a prominent example of a single-gene disease with an autosomal recessive inheritance pattern. PKU is associated with mutations in the gene that encodes the enzyme phenylalanine hydroxylase (PAH); when a person has these mutations, ...

tay sachs disease ashkenazi :: Article Creator Human Genetics: Concepts And Application Because of natural selection, different alleles are more likely to confer a survival advantage in different environments. Cycles of infectious disease prevalence and virulence often reflect natural selection. Balanced PolymorphismIf natural selection eliminates individuals with detrimental phenotypes from a population, then why do harmful mutant alleles persist in a gene pool? A disease can remain prevalent when heterozygotes have some other advantage over individuals who have two copies of the wild type allele. When carriers have advantages that allow a detrimental allele to persist in a population, balanced polymorphism is at work. This form of polymorphism often entails heterozygosity for an inherited illness that protects against an infectious illness. Examples are fascinating. Sickle Cell DiseaseSickle Cell disease is an autosomal recessive disorder that...

pleiotropy marfan syndrome :: Article Creator Effectiveness Of ACE Inhibition In Patients With Marfan's Syndrome On β-blockade Cite this article Effectiveness of ACE inhibition in patients with Marfan's syndrome on β-blockade. Nat Rev Cardiol 5, 68 (2008). Https://doi.Org/10.1038/ncpcardio1075 Download citation Share this article Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is not currently available for this article. Provided by the Springer Nature SharedIt content-sharing initiative Telangana Govt Hospital Doctors Perform Liver Transplantation On Patient Suffering From Marfan's And Rare Syndrome Osmania General Hospital doctors from multiple specialisations coordinated to perform liver transplantation on a patient suffering from Marfan's syndrome and hepatopulmonary syndrome (HPS). The image is used for represent...

sickle cell anaemia genetics :: Article Creator Breakthroughs In Sickle Cell Treatment You Can't Afford To Miss Let's take a deep breath and talk about something that hits close to home for many of us, especially in the Black community: Sickle Cell Disease. If you or someone you love lives with sickle cell, you already know the story. The ER visits. The unpredictable pain. The fatigue that doesn't go away. The fear of strokes, infections, and organ damage. And too often, the feeling of being dismissed or misunderstood in a healthcare system that wasn't built with us in mind. But here's what you may not have heard enough: there is hope — and it's growing. In recent years, scientists, doctors, and patient advocates have been breaking ground on treatments that aren't just managing symptoms, but aiming to transform lives. Revolutionary Gene Therapies That Are Changing Lives For decades, treatment options for si...