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Spinal muscular atrophy development in mice influenced by timing of protein depletion

Date: Jan-29-2014
Spinal muscle atrophy (SMA) is a devastating disease that is characterized by loss of motor neuron function and subsequent muscle weakness and atrophy. The disease results from deletion of survival of motor neuron 1 (SMN1) and SMN protein deficiency. In humans, a duplication SMN1, SMN2 results in a truncated SMN protein; however, the number of SMN2 copies inversely correlates to disease severity. Disease onset occurs shortly after birth following a short period of normal muscle function.

The cause of one of the most devastating pandemics in human history uncovered

Date: Jan-29-2014
An international team of scientists has discovered that two of the world's most devastating plagues - the plague of Justinian and the Black Death, each responsible for killing as many as half the people in Europe - were caused by distinct strains of the same pathogen, one that faded out on its own, the other leading to worldwide spread and re-emergence in the late 1800s. These findings suggest a new strain of plague could emerge again in humans in the future.

Fetal brain development jeopardized by cannabis use during pregnancy

Date: Jan-29-2014
An increasing number of children suffer from the consequences of maternal drug exposure during pregnancy, and Cannabis is one of the most frequently used substances. This motivated the study, published in the EMBO Journal, conducted in mice and human brain tissue, to decipher the molecular basis of how the major psychoactive component from Cannabis called delta-9-tetrahydrocannabinol or THC affects brain development of the unborn foetus.

Many women lack understanding of reproductive health

Date: Jan-29-2014
A new study by Yale School of Medicine researchers provides insight into how much women of reproductive age in the United States know about reproductive health. Published in the journal Fertility & Sterility, the study found that about 50% of reproductive-age women had never discussed their reproductive health with a medical provider and about 30% visited their reproductive health provider less than once a year or never.

IVF: risks may outweigh benefits, say experts

Date: Jan-29-2014
The first baby was born using in vitro fertilization in 1981. From then until 2003, more than 1 million babies were born using the treatment, and this increased to 2 million by 2005. Now, a new analysis published in the BMJ suggests that in vitro fertilization may be overused, and the risks of the treatment could possibly outweigh the benefits.In vitro fertilization (IVF) was first created as a treatment option for women who had fallopian tube disorders and men who were severely infertile.But the team of experts who conducted the analysis, led by Dr. Esme I.

Function restored in T cells from lupus patients by targetting lipid metabolism

Date: Jan-29-2014
Patients with the autoimmune disorder lupus erythematosus (SLE) exhibit multiple immune system defects. In this issue of the Journal of Clinical Investigation, Elizabeth Jury and colleagues at University College London reveal that T cells isolated from SLE patients have altered membrane-associated lipid profiles and exhibit increased lipid trafficking to the membrane and dysfunctional immune responses. Furthermore, normalization of lipid metabolism in isolated SLE T cells restored membrane lipid levels and immune function.

Identifying drugs for maximum penetration into lymph nodes to more effectively stop HIV virus replication

Date: Jan-29-2014
Drugs used to treat HIV penetrate poorly into lymphatic tissues where most HIV replication takes place and there is persistent low-level virus replication in these tissues according to research from the University of Minnesota and University of Nebraska Medical Center.The results appear in the latest issue of the Proceedings of the National Academy of Sciences (PNAS)."We know the drugs we use today are effective because our patients are doing better and living longer, but these drugs cannot cure the infection," said Timothy Schacker, M.D.

Risk of acute pancreatitis may be increased by HRT therapy

Date: Jan-29-2014
Women who use postmenopausal hormone replacement therapy (HRT) may be at increased risk of acute pancreatitis, found a new study in CMAJ (Canadian Medical Association Journal).Acute pancreatitis, a sudden inflammation of the pancreas, has symptoms that range from mild discomfort to severe, debilitating pain and may, in some cases, even lead to death.Although several case reports have indicated that there may be an association between use of HRT and risk of acute pancreatitis, the evidence from large studies is sparse.

Improved understanding of UVR response pathway providing clues to improving skin protection from sun exposure

Date: Jan-29-2014
The ultraviolet radiation (UVR) present in sunlight is the most common environmental carcinogen, and long-term exposure to UVR can lead to skin cancer and premature aging of the skin. To develop better methods of protection from the sun, we need to understand how the human skin detects and responds to UVR. A study in The Journal of General Physiology provides new insight into the molecular pathway underlying this process.Skin cells called melanocytes respond to UVR by increasing the skin's pigmentation, a protective mechanism otherwise known as tanning.

Clinical evaluation of teriparatid treatment for osteogenesis imperfecta

Date: Jan-29-2014
Patients with osteogenesis imperfecta (OI) are prone to bone fracture and skeletal deformity, and treatment options for these patients are severely limited. In this issue of the Journal of Clinical Investigation, Eric Orwoll and colleagues at Oregon Health and Sciences University evaluated the use of the teriparatide, a recombinant human parathyroid hormone, for patients with OI. Compared with patients taking placebo, OI patients taking tripartite exhibited increased bone density; however, this effect was limited to patients with a mild form of disease.