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Current Chromosomal Abnormalities News and Events, Chromosomal Abnormalities News Articles.
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Genes related to down syndrome abnormalities may protect against solid tumors
Scientists from Stanley Manne Children's Research Institute at Ann & Robert H. Lurie Children's Hospital of Chicago discovered that a set of genes with decreased expression in individuals with Down syndrome may lead to clinical abnormalities in this population, such as poor muscle development and heart valve problems. Impairment in these same genes may also protect people with Down syndrome from developing solid tumors. Their findings were published in Scientific Reports. (2020-08-06)

European maize highlights the hidden differences within a species
Maize is one of our major staple foods and is cultivated around the world, showcasing a broad range of genetic adaptations to different environmental conditions. To date, the best understood maize line is the American dent maize line B73. Scientists have now expanded our knowledge of the maize genome through the analysis of four European flint lines. The found genetic differences between the lines illustrate the importance of looking at the pangenome of a crop, when working with its genetics. (2020-07-27)

Researchers use cell imaging and mathematical modeling to understand cancer progression
Using a combination of experiments and mathematical modeling, a team of researchers from the Virginia Tech Department of Biological Sciences in the College of Science and the Fralin Life Sciences Institute are beginning to unravel the mechanisms that lie behind tetraploidy - a chromosomal abnormality that is often found in malignant tumors. (2020-07-24)

Genetic mutations predispose individuals to severe COVID-19
When two pairs of previously healthy young brothers from two families required mechanical ventilation at the intensive care unit in rapid succession, doctors and researchers at Radboud University Medical Center were inclined to consider that genetic factors had a key role in compromising their immune system. Their research identified the gene TLR7 as an essential player in the immune response against SARS-CoV-2. A finding with potentially major consequences for understanding and possibly treatment of COVID-19. (2020-07-24)

Cells react differently to genomic imprinting
We inherit half of our genes from each parent. For their function of most genes, it doesn't matter which parent a gene comes from. But this is not true for all genes: about 150 genes are subject to ''genomic imprinting''. They are active either only if inherited from the mother, or only father. Most ''imprinted'' genes are important for our development. Professor Simon Hippenmeyer, IST Austria, shows that brain cells react differently to genomic imprinting. (2020-07-23)

Obesity and metabolic syndrome are risk factors for severe influenza, COVID-19
Metabolic syndrome increases the risk of severe disease from viral infection, according to a review of the literature performed by a team of researchers from St. Jude Graduate School of Biomedical Sciences and the University of Tennessee Health Science Center, both in Memphis. The research appears this week in the Journal of Virology, a publication of the American Society for Microbiology. (2020-07-15)

Converting female mosquitoes to non-biting males with implications for mosquito control
''Nix has great potential for developing mosquito control strategies to reduce vector populations through female-to-male sex conversion, or to aid in the Sterile Insect Technique, which requires releasing only nonbiting males,'' said James Biedler, a research scientist in the Tu lab. (2020-07-14)

Abnormal cells in early-stage embryos might not preclude IVF success
The presence of an abnormal number of chromosomes in the genetic profile of early-stage embryos may be far more common - and potentially less threatening - during normal human development than is currently appreciated, according to new research from Johns Hopkins University biologists. (2020-07-08)

Measuring tape is a critical tool for following Zika virus-exposed children
A simple measuring tape could be the key to identifying which children could develop neurological and developmental abnormalities from Zika virus exposure during gestation. This is according to an invited commentary published July 7 in JAMA Network Open and written by Sarah Mulkey, M.D., Ph.D., prenatal-neonatal neurologist in the Division of Prenatal Pediatrics at Children's National Hospital. (2020-07-07)

The study of lysosomal function during cell division and chromosomal instability
By studying the role of lysosomes in mitosis, an IDIBELL and UB group discovers that alterations in the separation of chromosomes cause a detectable nucleus morphology once mitosis has finished. This morphology would be useful to identify cells that have chromosomal instability inherent in cancer cells. (2020-07-07)

Metabolomics meets genomics to improve patient diagnosis
Researchers at Baylor College of Medicine have improved their ability to identify the genetic cause of undiagnosed conditions. (2020-07-07)

Common inherited genetic variant identified as frequent cause of deafness in adults
A common inherited genetic variant is a frequent cause of deafness in adults, meaning that many thousands of people are potentially at risk, reveals research published online in the Journal of Medical Genetics. (2020-07-06)

Blood cell mutations linked to leukemias are inevitable as we age
A new study by researchers at the RIKEN Center for Integrative Medical Science in Japan reports differences in blood cell mutations between Japanese and European populations. The study found that these pre-clinical mutations were strongly associated with different types of cancers and can explain why Europeans have higher rates of chronic lymphocytic leukemia, while Japanese have higher rates of T-cell leukemia. (2020-06-24)

Towards an AI diagnosis like the doctor's
Artificial intelligence is an important innovation in diagnostics, because it can learn to recognize abnormalities that a doctor would also label as a disease. But the way these systems work is opaque, and doctors have a better ''overall picture'' when they make the diagnosis. In this publication, Radboudumc researchers show how they can make the AI show how it's working, as well as let it diagnose more like a doctor, thus making AI more relevant to clinical practice. (2020-06-24)

KKH's novel clinical triage protocol for threatened miscarriages saves pregnancies
A study conducted by clinicians from KK Women's and Children's Hospital (KKH) and researchers at the Nanyang Technological University, Singapore (NTU), which evaluated and demonstrated the safety and effectiveness of a KKH-developed novel clinical protocol to screen and triage women with threatened miscarriages, has been published in the journal, Scientific Reports. (2020-06-18)

Mild thyroid dysfunction affects one in five women with a history of miscarriage or subfertility
Mild thyroid abnormalities affect up to one in five women with a history of miscarriage or subfertility which is a prolonged time span of trying to become pregnant, according to a new study published in the Endocrine Society's Journal of Clinical Endocrinology & Metabolism. (2020-06-17)

Yale researchers find potential treatment for Rett Syndrome
An experimental cancer drug can extend the life of mice with Rett Syndrome, a devastating genetic disorder that afflicts about one of every 10,000 to 15,000 girls within 6 to 18 months after birth, Yale researchers report June 10 in the journal Molecular Cell. (2020-06-10)

Pregnancy complications in assisted reproduction linked to a specific process
An experimental study from researchers in the Perelman School of Medicine at the University of Pennsylvania links a specific procedure -- embryo culture -- that is part of the assisted reproduction process (ART) to placental abnormalities, risk for preeclampsia, and abnormal fetal growth. The team, led by Marisa Bartolemei, PhD, a professor of Cell and Developmental Biology, published their findings today in Development. (2020-06-08)

New study reveals areas of brain where recognition and identification occur
Using ''sub-millimeter'' brain implants, researchers at The University of Texas Health Science Center at Houston (UTHealth), have been able to determine which parts of the brain are linked to facial and scene recognition. (2020-06-04)

Chromosomal speciation in wild house mice
A new look into the genomes of natural populations of the common house mice by a team of researchers from the University of Konstanz, Harvard University and La Sapienza University of Rome suggests that large-scale chromosomal rearrangements play an important role in speciation. (2020-05-26)

Fatal Lyme carditis in a 37-year-old man shows need for awareness of unusual symptoms
Physicians and the public should be aware of the different presentations of Lyme disease, as people spend more time outside in the warmer weather and as areas in Canada where the black legged tick is found expand. Three articles in CMAJ (Canadian Medical Association Journal), which describe a fatal case in a 37-year-old man, atypical skin lesions in a 56-year-old woman and severe neurological symptoms in a 4-year-old boy, illustrate the diversity in presentations. (2020-05-25)

Study finds only 3% of individuals with autism receive recommended genetic tests
Tests can identify or rule out abnormalities that could impact clinical care, but a study from the R.I. Consortium for Autism Research and Treatment finds that most people with autism spectrum disorder don't receive them. (2020-05-13)

Imaging reveals bowel abnormalities in patients with COVID-19
Patients with COVID-19 can have bowel abnormalities, including ischemia, according to a new study published today in the journal Radiology. (2020-05-11)

Pediatric coronavirus disease (COVID-19) x-ray, CT in review of new lung disorders
Although the clinical symptoms of SARS, H1N1, MERS, EVALI, and COVID-19 may be nonspecific, some characteristic imaging findings are emerging, says the American Journal of Roentgenology (AJR). Careful evaluation of the distribution, lung zone preference, and symmetry of the abnormalities with an eye for a few unique differentiating imaging features can allow radiologists to offer a narrower differential diagnosis in pediatric patients, leading to optimal patient care. (2020-05-08)

AI -- a new tool for cardiac diagnostics
Artificial intelligence (AI) may be an aid to interpreting ECG results, helping healthcare staff to diagnose diseases that affect the heart. Researchers at Uppsala University and heart specialists in Brazil have developed an AI that automatically diagnoses atrial fibrillation and five other common ECG abnormalities just as well as a cardiologist. The study has been published in Nature Communications. (2020-05-05)

Electrical activity in living organisms mirrors electrical fields in atmosphere
A new Tel Aviv University study provides evidence for a direct link between electrical fields in the atmosphere and those found in living organisms, including humans. (2020-05-05)

New COVID-19 guidance for gastroenterologists
AGA has published new expert recommendations in Gastroenterology: AGA Institute Rapid Review of the GI and Liver Manifestations of COVID-19, Meta-Analysis of International Data, and Recommendations for the Consultative Management of Patients with COVID-19. (2020-05-04)

Making safe choices: It's in our DNA
Researchers from Osaka University demonstrate the important role of DNA replication machinery in recombination pathway choice at the centromere of chromosomes to limit gross chromosomal rearrangements. In experiments conducted on fission yeast, the researchers revealed how DNA replication mechanisms, by inhibiting Rad52-mediated single-strand annealing, limit the formation of anomalous chromosomes that may predispose to cancer and genetic diseases. This knowledge suggests that Rad52 is a possible target for cancer treatment. (2020-04-30)

Scientists identify a potential treatment candidate for early type 2 diabetic retinopathy
Diabetic retinopathy is one of the main vascular complications of type 2 diabetes, and the most common cause of visual deterioration in adults. A new study in The American Journal of Pathology, published by Elsevier, reports on the efficacy of a possible treatment candidate that showed anti-inflammatory and neuroprotective effects on the retina and optic nerve head in early type 2 diabetic retinopathy using a diabetic mouse model. (2020-04-27)

Breastfeeding moms' exposure to nicotine linked to infant skull defect
Lactating mothers who use e-cigarettes or nicotine replacement therapies may be putting their breastfed babies at risk for skull defects, a new study in animals suggests. Cigarette smoking has already been linked to increased risk for these abnormalities in previous research. This study tested the effects of nicotine alone on head and face development. (2020-04-27)

Promiscuity in the Paleozoic: Researchers uncover clues about vertebrate evolution
By looking at the DNA of living animals, researchers from the Okinawa Institute of Science and Technology Graduate University, alongside an international team of collaborators, have revealed early events in vertebrate evolution, including how jawed vertebrates arose from the mating of two different species of primitive fish half a billion years ago. (2020-04-20)

Single cell division error may be responsible for complexity in cancer genomes
A single error in cell division related to the formation of a chromosome bridge can trigger a cascade of mutational events, rapidly generating many of the defining features of cancer genomes, a new study suggests. (2020-04-16)

Autism in males linked to defect in brain immune cells, microglia
Autism disproportionately affects boys. A new study offers a potential mechanism. Brain cells called microglia prune synaptic connections during early development. A specific genetic mutation affecting males led to enlarged microglia that had trouble performing that job. (2020-04-14)

Inhibition of sphingolipid metabolism and neurodegenerative diseases
Disrupting the production of a class of lipids known as sphingolipids in neurons improved symptoms of neurodegeneration and increased survival in a mouse model. (2020-04-13)

New test may help more couples understand why they experience multiple miscarriages
Approximately 5% of women experience two or more miscarriages, a condition known as recurrent pregnancy loss (RPL). Although genetic testing is important for evaluating RPL, current tests have revealed shortcomings in clinical practice. A report in The Journal of Molecular Diagnostics describes a new high-resolution melting analysis-based test that is accurate, rapid, cheap, and easy to perform. When used prior to other tests, it improved cost-effectiveness by 30%, an important consideration in areas with limited healthcare resources. (2020-04-09)

Alport syndrome severity can be predicted by causative protein genotype
Researchers from Kumamoto and Kobe Universities in Japan have successfully developed a system for predicting the severity of Alport syndrome, a serious hereditary kidney disease. By analyzing the genotype of the causative protein, type IV collagen, with a proprietary evaluation system, the researchers successfully predicted the severity of future nephropathy. (2020-04-06)

3D genetic structure in blood cancer important beyond DNA code changes
Children with aggressive blood cancers have differences -- not just in the DNA code of their blood cells -- but also in the heavily twisted protein superstructure that controls access to genes. (2020-03-23)

Unlocking schizophrenia
New research, led by Prof. LIU Bing and Prof. JIANG Tianzi from the Institute of Automation of the Chinese Academy of Sciences and their collaborators have recently developed a novel imaging marker that may help in the personalized medicine of psychiatric disorders. (2020-03-23)

How 'pioneer' protein turns stem cells into organs
Early on in each cell, a critical protein known as FoxA2 simultaneously binds to both the chromosomal proteins and the DNA, opening the flood gates for gene activation, according to a new study led by researchers in the Perelman School of Medicine at the University of Pennsylvania. The discovery, published in Nature Genetics, helps untangle mysteries of how embryonic stem cells develop into organs. (2020-03-18)

Low-dose chest CT leaves DNA intact
The low-dose chest CT scans used in lung cancer screening do not appear to damage human DNA, according to a new study. The results could help allay fears that such screenings will lead to an increase in radiation-induced cancer. (2020-03-10)

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