http://medicalxpress.com/ en-us Medical Xpress provides the latest news from Journal of Clinical Investigation Cystic fibrosis (CF) is caused by mutations in CFTR and is characterized by dysfunction of the lungs, liver, pancreas, and intestines. Approximately 15% of babies with CF are born with an obstruction of the small intestine known as meconium ileus, frequently the first sign of CF. Unlike in humans, meconium ileus occurs in 100% of newborn CF pigs. http://medicalxpress.com/news/2013-05-gene-pigs-ameliorates-cystic-fibrosis-associated.html Diseases, Conditions, Syndromes Wed, 08 May 2013 13:19:39 EST news287237973 Alzheimer's disease is characterized by the accumulation of neurotoxic β-amyloid peptide (A-beta). ADAM10, a protein that resides in the neural synapses, has previously been shown to prevent the formation of A-beta. http://medicalxpress.com/news/2013-05-alzheimer-disease-synaptic-protein-adam10.html Alzheimer's disease & dementia Wed, 08 May 2013 13:08:41 EST news287237301 Oropharyngeal squamous cell carcinoma (OPSCC) is a form of cancer that affects the cells lining the middle part of the throat, including the soft palate, the base of the tongue, the tonsils, and the pharynx. http://medicalxpress.com/news/2013-05-hpv-oropharyngeal-squamous-cell-carcinoma.html Cancer Wed, 01 May 2013 12:00:07 EST news286624816 Primary effusion lymphoma (PEL) is a rare, fatal form of aggressive B-cell lymphoma caused by Kaposi's sarcoma-associated herpesvirus (KSHV). The disease most commonly occurs in immunocompromised patients, such as those with HIV and the elderly. Because current treatment options are not effective, there is a great need for new PEL therapies. http://medicalxpress.com/news/2013-05-therapeutic-synergy-primary-effusion-lymphoma.html Cancer Wed, 01 May 2013 12:00:05 EST news286624931 Pancreatic beta cells store and release insulin, the hormone responsible for stimulating cells to convert glucose to energy. The number of beta cells in the pancreas increases in response to greater demand for insulin or injury, but it is not clear if the new beta cells are the result of cell division or the differentiation of a precursor cell, a process known as neogenesis. Knowledge of how beta cells are created and maintained is critical to understanding diseases in which these cells are lost, such as diabetes. http://medicalxpress.com/news/2013-04-rebirth-insulin-secreting-pancreatic-beta.html Medical research Wed, 24 Apr 2013 12:00:05 EST news286022653 Peripartum cardiomyopathy (PPCM) is a deterioration in cardiac function that occurs in pregnant women during the last month or in the months following their pregnancy. This disorder can occur in women with no prior history of heart disease and the causes are not well understood. http://medicalxpress.com/news/2013-04-potential-biomarker-pregnancy-associated-heart-disease.html Diseases, Conditions, Syndromes Wed, 24 Apr 2013 12:00:01 EST news286022761 Platinum compounds, such as cisplatin and carboplatin, induce DNA cross-linking, prohibiting DNA synthesis and repair in rapidly dividing cells. They are first line therapeutics in the treatment of many solid tumors, but cancer cells frequently develop resistance to these drugs. http://medicalxpress.com/news/2013-04-resistance-futile-gene-cisplatin-ovarian.html Cancer Mon, 15 Apr 2013 12:00:09 EST news285240110 Giant axonal neuropathy (GAN) is a rare genetic disorder that causes central and peripheral nervous system dysfunction. GAN is known to be caused by mutations in the gigaxonin gene and is characterized by tangling and aggregation of neural projections, but the mechanistic link between the genetic mutation and the effects on neurons is unclear. http://medicalxpress.com/news/2013-04-untangle-molecular-pathology-giant-axonal.html Neuroscience Mon, 15 Apr 2013 12:00:08 EST news285240172 Research from Western University and Lawson Health Research Institute sheds new light on a gene called ATRX and its function in the brain and pituitary. Children born with ATRX syndrome have cognitive defects and developmental abnormalities. ATRX mutations have also been linked to brain tumors. Dr. Nathalie Bérubé, PhD, and her colleagues found mice developed without the ATRX gene had problems in in the forebrain, the part of the brain associated with learning and memory, and in the anterior pituitary which has a direct effect on body growth and metabolism. The mice, unexpectedly, also displayed shortened lifespan, cataracts, heart enlargement, reduced bone density, hypoglycemia; in short, many of the symptoms associated with aging. The research is published in the Journal of Clinical Investigation. http://medicalxpress.com/news/2013-04-aging-molecular.html Medical research Mon, 08 Apr 2013 12:00:05 EST news284633413 The retina is a highly vascularized tissue, but too much or too little vascularization can lead to visual impairment and diseases such as familial exudative vitreoretinopathy or macular degeneration. In this issue of the Journal of Clinical Investigation, Alfred Nordheim and colleagues at Tuebingen University in Tuebingen, Germany, identified the DNA transcription factor SRF and its cofactors MRTF-A and MRTF-B as critical regulators of vascularization in the postnatal mouse eye. http://medicalxpress.com/news/2013-04-transcription-factors-retinal-vascularization.html Medical research Mon, 08 Apr 2013 12:00:04 EST news284639184 Tight control of blood glucose levels is critical to mitigating the long-term complications of diabetes; however, the intensive insulin therapy required for this control is frequently accompanied by recurrent episodes of low blood sugar (hypoglycemia). Hypoglycemic episodes have been implicated in brain damage and cognitive impairment. Though the brain depends predominantly on glucose as an energy source, it can also use alternative fuels, such as lactate, to satisfy its energy requirements. http://medicalxpress.com/news/2013-04-alternative-fuel-brain.html Medical research Mon, 01 Apr 2013 12:00:02 EST news284032207 Duchenne muscular dystrophy (DMD) is a degenerative skeletal muscle disease caused by mutations in the protein dystrophin. Dystrophin functions to protect muscle cells from injury and loss of functional dystrophin results in break down and loss of muscle cells. A cellular signal relay system, known as a MAP kinase cascade, regulates the function of muscle stem cells, serving as a source of the new cells that are required for muscle regeneration. http://medicalxpress.com/news/2013-04-muscle-regeneration-mouse-muscular-dystrophy.html Medical research Mon, 01 Apr 2013 12:00:01 EST news284032131 Dravet syndrome (DS) is a form of infantile-onset, treatment-resistant epilepsy that is caused by a mutation in the gene encoding a voltage-gated sodium channel, SCN1A. DS patients have a 30-fold increased risk of dying from sudden unexplained death in epilepsy (SUDEP) compared to patients with other forms of pediatric-onset epilepsy. http://medicalxpress.com/news/2013-03-exploring-sudden-unexplained-death-epilepsy.html Medical research Mon, 25 Mar 2013 12:29:58 EST news283433391 Reverse cholesterol transport is a process in which accumulated cholesterol is removed from tissues, including the artery wall, and transported back to the liver for excretion. Little is known about how cholesterol is removed from peripheral tissues, but a better understanding of these mechanisms could help in the development of therapies that treat atherosclerosis and other cholesterol-related disorders. http://medicalxpress.com/news/2013-03-lymphatic-vasculature-cholesterol.html Medical research Mon, 25 Mar 2013 12:25:27 EST news283433121 As success rates in treating childhood cancers have improved, greater emphasis is being placed on quality of life issues following successful treatment. Many cancer treatments can lead to infertility, but there are few methods to preserve the fertility of children who have not entered puberty. http://medicalxpress.com/news/2013-03-fertility-childhood-cancer.html Cancer Fri, 15 Mar 2013 12:22:55 EST news282568968