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Showing posts from February, 2025

The evolving role of genetic tests in reproductive medicine

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low platelets and fever :: Article Creator The Cause Of Fever After Platelet Transfusion? Febrile responses to platelet transfusions are common but some can be life-threatening and the cause of these reactions is largely unknown. In June 23 Lancet, Richard Phipps and colleagues from University of Rochester Cancer Center, Rochester, New York, suggest that these febrile responses could be due to the release of CD40 ligand from the platelets. Human platelets contain preformed CD40 ligand that can be expelled after activation to initiate the wound healing process. The CD40 ligand is associated with the production of proinflammatory prostaglandin E2 (PGE2), the key inducer of fever in man. Phipps et al. Randomly assessed 9 preparations of platelets due for transfusion and found that the amounts of CD40 ligand (3000 ng/L to more than 7000 ng/L) was similar to concentrations found in human blood during chronic inflammation (Lancet 2001, 357:2023-2024). ...

Fluorescence in situ hybridisation analysis of sex chromosome in non-obstructive azoospermic men

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v leiden deficiency :: Article Creator

Non-invasive prenatal testing: a revolutionary journey in prenatal testing

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klinefelter women :: Article Creator Four Women Composer-Pianists To Perform In Program At Drexel University's Mandell Theater Four diverse and fiercely talented women composer-pianists will perform a new work that features four grand pianos surrounded by an on-stage audience on April 3, 4, and 5 at Drexel University's Mandell Theater. Eight Eight Time, is another ambitious work presented by Journey Arts and supported by The Pew Center for Arts & Heritage. Four pianos, eight hands, original poetry, and film will converge to explore the milestones that shape women's lives. Eight Eight Time features original compositions by acclaimed jazz pianists Kendrah Butler-Waters, Terry Klinefelter, Suzzette Ortiz, and Sumi Tonooka, interwoven with poetry by Yolanda Wisher and evocative visuals by Lunise Cerin. The all-women ensemble brings together a diverse range of voices and perspectives, reflecting the rich tapestry of the communit...

Genomic instability in individuals with sex determination defects and germ cell cancer

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women's bleeding disorders :: Article Creator Women - Search News How to Watch USWNT SheBelieves Cup: Live Stream United States Women's National Team Soccer, TV Channel, Schedule The United States Women's National Team will face three quality opponents in the SheBelieves Cup starting Thursday, February 20th, at Shell Energy Stadium in Houston, Texas. WATCH: SheBelieves Cup LiveStream FREE on Fubo The United States Women's National Team is the top-ranked international women's soccer team in the world,

Fluorescence in situ hybridisation analysis of sex chromosome in non-obstructive azoospermic men

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taad syndrome :: Article Creator

Non-invasive prenatal testing: a revolutionary journey in prenatal testing

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define klinefelter :: Article Creator

Figure 2: Patient's karyogram demonstrates large piece of short arm of...

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bleeding diseases list :: Article Creator 7 Rare Diseases Parents Might Pass To Their Children Medical researchers discover new hope for families affected by inherited conditions that worsen over time, as breakthrough treatments emerge When a child inherits a genetic condition, it often means both parents unknowingly carried genetic variations that, when combined, led to the disease. Modern genetic testing now allows families to understand their risk factors better, though many face difficult decisions about whether to pursue testing. 1. Cystic fibrosis affects breathing and digestion This life-altering condition affects about 35,000 Americans, making everyday breathing a challenge. Children inherit it when both parents carry a specific gene mutation, though carriers often show no symptoms themselves. The effects begin early, with thick mucus building up in the lungs and digestive system. New treatments target the underlying genetic cause, of...

The evolving role of genetic tests in reproductive medicine

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sickle cell anemia is x linked recessive inheritance :: 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 autosoma...

Genomic instability in individuals with sex determination defects and germ cell cancer

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chromosome 8 disorders list :: 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 mutati...

Fluorescence in situ hybridisation analysis of sex chromosome in non-obstructive azoospermic men

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genetic epilepsy syndromes :: Article Creator Gene Therapy For Rare Epilepsy Shows Promise In Mice Just a moment... This request seems a bit unusual, so we need to confirm that you're human. Please press and hold the button until it turns completely green. Thank you for your cooperation! Press and Hold Press and hold the button If you believe this is an error, please contact our support team. 167.71.87.121 : 8e5aaf64-c228-4453-a14d-a0583483 Dallas Researchers Work To Unravel The Mystery Of Sudden Unexpected Death In Epilepsy SMU biology professor Edward Glasscock talks with post-doctoral researcher Kelsey Paulhus in his lab at SMU. [Photo: SMU] New findings from a lab of an SMU biology professor have provided valuable clues in unraveling the mystery of sudden unexpected death in epilepsy (SUDEP), the leading cause of epilepsy-related mortality. The underlying mechanisms behind SUDEP historically have been shrouded...

Non-invasive prenatal testing: a revolutionary journey in prenatal testing

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monogenic diseases :: Article Creator Long Read Sequencing Reveals More Genetic Information While Cutting Time And Cost Of Rare Disease Diagnoses Just a moment... This request seems a bit unusual, so we need to confirm that you're human. Please press and hold the button until it turns completely green. Thank you for your cooperation! Press and Hold Press and hold the button If you believe this is an error, please contact our support team. 167.71.87.121 : e30e6194-66f1-43e6-81b0-9ed7e7df Taysha Gene Therapies, Inc. (NASDAQ:TSHA) Receives $6.63 Consensus Price Target From Brokerages Shares of Taysha Gene Therapies, Inc. (NASDAQ:TSHA – Get Free Report) have been given a consensus recommendation of "Buy" by the eight ratings firms that are covering the company, Marketbeat reports. Eight investment analysts have rated the stock with a buy rating. The average 12-month price objective among brokerages that have iss...

Figure 2: Patient's karyogram demonstrates large piece of short arm of...

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cystic fibrosis chromosome affected :: Article Creator Stalled Microbiomes: Cystic Fibrosis Disrupts Early Gut Development In Infants Findings from a new Dartmouth-led study, published in the journal mBio, highlight key differences in the gut microbiome (communities of bacteria) of infants with cystic fibrosis (CF) compared to that of healthy infants, and how these alterations may adversely affect their health. CF is a multi-organ genetic disease that causes sticky mucus to build up in the lungs and digestive system, as well as heightened inflammation in the gut and at other body sites. "It's been known that in healthy infants, the intestinal microbiome is very dynamic and changes over time as a consequence of how they're delivered at birth, whether they're breastfed or not, and when they transition to solid food, among other factors. Then at three to five years of age, these changes stabilize into an adult-like microbiome. This pro...