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X-linked hypophosphatemia (XLH) is the most common cause of hereditary rickets in children. Its early recognition is crucial to appropriate pediatric management and surveillance for complications related to the disease as well as to its treatment. Diagnosis The clinical features of rickets is the bowing of the lower extremity bones following the initiation of weight bearing in early childhood, with […]
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Skip to: What is arthritis? The severity and prevalence of arthritis related to age Psoriatic arthritis Rheumatoid nodules and vasculitis Arthritis is a condition of joint inflammation. Several types of arthritis exist, with some involving the skin, immune system, and blood vessels. What is arthritis? Arthritis is a term used for inflammation of the joints, the tissues surrounding the […]
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Skip to: Symptoms & Pathology Causes and Current Research Treatment Cleavage-resistant RIPK1-induced autoinflammatory (CRIA) syndrome, is a recently discovered autoinflammatory disease caused by mutations within the receptor-interacting serine/threonine-protein kinase 1 (RIPK1) gene. The exact prevalence of CRIA syndrome is still undetermined as it has only recently been identified as a disease. Seven people from three separate families in the U.S. […]
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Universitätsmedizin Berlin and the Medical University of Innsbruck have developed a new therapeutic concept for the treatment of temporal lobe epilepsy. It represents a gene therapy capable of suppressing seizures at their site of origin on demand. Having been shown to be effective in an animal model, the new method will now be optimized for clinical use. Results from this […]
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Researchers have discovered in mice how one of the few genes definitively linked to schizophrenia, called SETD1A, likely confers risk for the illness. Mice genetically engineered to lack a functioning version of the enzyme-coding gene showed abnormalities in working memory, mimicking those commonly seen in schizophrenia patients. Restoring the gene’s function corrected the working memory deficit. Counteracting the gene’s deficiencies […]
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Sarcomas—cancers that arise from transformed mesenchymal cells (a type of connective tissue)—are quite deadly. Gastrointestinal stromal tumors (GISTs) are the most common human sarcoma and are initiated by activating mutations in the KIT receptor tyrosine kinase. Micro-GISTs are a smaller variation of clinical GISTs and are found in one-third of the general population without clinical symptoms. Although the micro-GISTs and […]
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St. Jude Children’s Research Hospital scientists have identified genetic variations in a fourth gene that are associated with an increased risk of acute lymphoblastic leukemia (ALL) in Hispanic children. The research appears today in the journal Blood. The gene is ERG, a transcription factor that is also mutated in the leukemic cells of some ALL patients. In this study, researchers […]
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Long thought to suppress cancer by slowing cellular metabolism, the protein complex AMPK also seemed to help some tumors grow, confounding researchers. Now, Salk Institute researchers have solved the long-standing mystery around why AMPK can both hinder and help cancer. The lab of Salk Professor Reuben Shaw showed that late-stage cancers can trigger AMPK’s cellular recycling signal to cannibalize pieces […]
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Adolescents with a particular variant of an opioid receptor gene have less response in a part of prefrontal cortex that evaluates rewards, compared to those with the other version of the gene, say researchers at Georgetown University Medical Center (GUMC). For the study, presented Monday at Neuroscience 2018, the annual meeting of the Society for Neuroscience (abstract #7517), the investigators […]
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Researchers from the University of California, Irvine School of Medicine, have found that a rare gene mutation alters brain development in mice, impairing memory and disrupting the communication between nerve cells. They also show memory problems could be improved by transplanting a specific type of nerve cell into the brain. The findings were published today in Neuron. “Mutations in hundreds […]
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