Congenital Hearing Loss

sarcoidosis genetic :: Article Creator Genetic Counseling Program Content The Baylor College of Medicine Genetic Counseling Program provides students a transformative education in genomic medicine and the practice of genetic counseling. The outstanding clinical, laboratory, and research faculty will empower graduates to be empathic professionals with effective critical thinking skills. As leaders of genomic medicine integration, our graduates will serve as indispensable navigators of genetic service delivery. Genetic Code The genetic code is a set of rules defining how the four-letter code of DNA is translated into the 20-letter code of amino acids, which are the building blocks of proteins. The genetic code is a set of three-letter combinations of nucleotides called codons, each of which corresponds to a specific amino acid or stop signal. The concept of codons was first described by Francis Crick and his colleagues in 1961. During the ...

congenital sensorineural hearing loss causes :: Article Creator What Is Sensorineural Hearing Loss? Sensorineural tissues in the inner ear have a very limited repair capacity. When hair cells are destroyed, the damage is permanent. But there are a number of ways audiologists can help you improve the experience of having SNHL. Hearing Aids Hearing aids are the most common way to address unilateral and bilateral hearing loss. They work by converting sound into electrical energy, which is amplified, transformed into an acoustic signal and reproduced by a speaker in the ear canal. Over the last few decades, hearing aid technology has advanced significantly, improving both sound clarity and comfortability. As of October 2022, the Food and Drug Administration (FDA) allows the purchase of over-the-counter (OTC) hearing aids, which do not require a medical exam or a device fitting with a hearing health professional. However, it's still advantageous...

chromosomal abnormalities in leukemia :: Article Creator Chromosome Abnormalities And Cancer Cytogenetics Albertson, D. G., et al. Chromosome aberrations in solid tumors. Nature Genetics 34, 369–376 (2003) doi:10.1038/ng1215 (link to article) Cairns, P., et al. Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. Nature Genetics 11, 210–212 (1995) (link to article) Fearon, E. R., & Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell 61, 759–767 (1990) Mitelman, F. Cancer cytogenetics update 2005. Atlas of Genetics and Cytogenetics in Oncology and Haematology March 2005 Nigg, E. A. Centrosome aberrations: Cause or consequence of cancer progression? Nature Reviews Cancer 2, 815–825 (2002) doi: 10.1038/nrc924 (link to article) Nowell, P., & Hungerford, D. A minute chromosome in human chronic granulocytic leukemia. Science 132, 1497 (1960) Oliner, J. D., et al. Amplification of a gene encoding a p53-...

balanced chromosomal abnormalities :: Article Creator Chromosome Abnormalities And Cancer Cytogenetics Albertson, D. G., et al. Chromosome aberrations in solid tumors. Nature Genetics 34, 369–376 (2003) doi:10.1038/ng1215 (link to article) Cairns, P., et al. Frequency of homozygous deletion at p16/CDKN2 in primary human tumours. Nature Genetics 11, 210–212 (1995) (link to article) Fearon, E. R., & Vogelstein, B. A genetic model for colorectal tumorigenesis. Cell 61, 759–767 (1990) Mitelman, F. Cancer cytogenetics update 2005. Atlas of Genetics and Cytogenetics in Oncology and Haematology March 2005 Nigg, E. A. Centrosome aberrations: Cause or consequence of cancer progression? Nature Reviews Cancer 2, 815–825 (2002) doi: 10.1038/nrc924 (link to article) Nowell, P., & Hungerford, D. A minute chromosome in human chronic granulocytic leukemia. Science 132, 1497 (1960) Oliner, J. D., et al. Amplification of a gene encoding a p53-ass...

hereditary muscle disease :: Article Creator Diagnosis Of Rare, Genetic Muscle Disease Improved By New Approach It's not easy to distinguish between the dozens of subtypes of limb girdle muscular dystrophy—a rare, genetic muscle disease characterized by weakness in the hips and shoulders that causes difficulty walking and lifting the arms. Until now, determining the subtype has not been critical in caring for patients, because no specific treatments have been available. But gene therapies are on the horizon, and such therapies are targeted to specific genetic variants, so pinpointing the genetic roots of each patient's disease has taken on a new importance. In new research, a team at Washington University School of Medicine in St. Louis has developed an approach that could help doctors make more precise diagnoses. The study is published in the Journal of Clinical Investigation. Hundreds of genes are associated with limb girdle muscul...

inherited lung disease :: Article Creator Alpha-1: Should You Be Tested? Alpha-1 antitrypsin deficiency is an inherited disease, which means it's passed down to you by your parents. It can lead to lung disease, especially if you smoke. If you think there's a chance you have alpha-1, you should get tested. Though there's no cure yet, you can make smart moves to protect your lungs and get the right treatments. Because most people with alpha-1 don't know they have it, many experts recommend alpha-1 testing for everyone with COPD or emphysema. It's also suggested if you have asthma that doesn't get better with treatment. Most of the symptoms from alpha-1 are due to the effects in the lungs. Symptoms of Alpha-1 include: Shortness of breath Wheezing Frequent  colds, flu, or bronchitis Fatigue Unexplained weight loss Though not common, some people develop liver symptoms, which include: Jaundice, which causes ...

haemophilia presentation :: Article Creator Types Of Hemophilia Haemophilia is life-threatening rare inherited bleeding disorder. In this condition there is deficiency of coagulation factors in the body which is essential for blood to clot and prevent excess bleeding. It is an inherited X-linked genetic disorder and Haemophilia A and Haemophilia B are most common type. Haemophilia A & B are caused by defect in production of clotting factors VIII and IX respectively. Family history of bleeding disorders accounts for 2/3rd of all cases of haemophilia and 1/3rd of the cases of haemophilia can be sporadic, arising due to spontaneous mutations in FVIII or FIX genes. The incidence and prevalence of haemophilia is low in the overall population. As per Annual Global Survey 2021, people diagnosed with haemophilia in India are 25,000 out of which approximately 21,000 suffer with Haemophilia A and 3,000 with Haemophilia B. Haemophilia affects males while...