Human

Among the many educational materials produced by the European Society of Human Reproduction and Embryology (ESHRE) are guidelines. ESHRE guidelines may be developed for many reasons but their intent is always to promote best quality practices in reproductive medicine. In an ...

Fibromyalgia syndrome is a systemic disorder of widespread pain which is thought to result from abnormal pain processing within the central nervous system. There are no currently approved treatments for this indication. Antidepressants appear, however, to be effective, especially those with an action on noradrenergic neurotransmission. The objective of the present study was to test the efficacy of the dual action noradrenaline and serotonin reuptake inhibitor antidepressant, milnacipran, in the treatment of fibromyalgia.The 125 patients, who were enrolled in a double-blind, placebo-controlled, flexible dose escalation trial, were randomized to receive placebo or milnacipran for 4 weeks of dose escalation (up to 200 mg/day), followed by 8 weeks at a constant dose. The study evaluated the efficacy and safety of milnacipran for the treatment of pain and associated symptoms such as fatigue, depressed mood and sleep. 75% of milnacipran-treated patients reported overall improvement, compared with 38% in the placebo group (p < 0.01). Furthermore, 37% of twice daily milnacipran-treated patients reported at least 50% reduction in pain intensity, compared with 14% of placebo-treated patients (p < 0.05). 84% of all milnacipran patients escalated to the highest dose (200 mg/day) with no tolerability issues. Most adverse events were mild to moderate in intensity, and transient in duration. These results suggestthat milnacipran may have the potential to relieve not only pain but several of the other symptoms associated with fibromyalgia. Copyright © 2004 John Wiley & Sons, Ltd.

The Long QT Syndrome (LQTS) is a group of genetically heterogeneous disorders that predisposes young individuals to ventricular arrhythmias and sudden death. LQTS is mainly caused by mutations in genes encoding subunits of cardiac ion channels (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2). Many other genes involved in LQTS have been described recently (KCNJ2, AKAP9, ANK2, CACNA1C, SCNA4B, SNTA1, and CAV3). We created an online database (http://www.genomed.org/LOVD/introduction.html) that provides information on variants in LQTS-associated genes. As of February 2010, the database contains 1738 unique variants in 12 genes. A total of 950 variants are considered pathogenic, 265 are possible pathogenic, 131 are unknown/unclassified, and 292 have no known pathogenicity. In addition to these mutations collected from published literature, we also submitted information on gene variants, including one possible novel pathogenic mutation in the KCNH2 splice site found in ten Chinese families with documented arrhythmias. The remote user is able to search the data and is encouraged to submit new mutations into the database. The LQTS database will become a powerful tool for both researchers and clinicians. © 2010 Wiley-Liss, Inc.

We read the article by Klute et al1 with interest; however, we
identified a number of issues with the article. The authors
compared the socket fit, activity level, and limb volume of 2
different prosthetic suspension systems, namely a vacuumassisted
suspension system (VASS) and a pin suspension.1
Because limited literature is available on the effect of vacuumassisted
suspension as a means of controlling residual limb
volume and pistoning,2 the article would have been more
clinically helpful if some ambiguities were clarified.
http://www.ncbi.nlm.nih.gov/pubmed/22541316

Hereditary spastic paraplegias (HSP) constitute a heterogeneous group of neurodegenerative disorders characterized at least by slowly progressive spasticity of the lower limbs. Mutations in REEP1 were recently associated with a pure dominant HSP, SPG31. We sequenced all exons of REEP1 and searched for rearrangements by multiplex ligation-dependent probe amplification (MLPA) in a large panel of 175 unrelated HSP index patients from kindreds with dominant inheritance (AD-HSP), with either pure (n = 102) or complicated (n = 73) forms of the disease, after exclusion of other known HSP genes. We identified 12 different heterozygous mutations, including two exon deletions, associated with either a pure or a complex phenotype. The overall mutation rate in our clinically heterogeneous sample was 4.5% in French families with AD-HSP. The phenotype was restricted to pyramidal signs in the lower limbs in most patients but nine had a complex phenotype associating axonal peripheral neuropathy (= ...

Functional requirements shaped proteins into globular structures. Under these structural constraints, which require both regular secondary structure and a hydrophobic core, protein aggregation is an unavoidable corollary to protein structure. However, as aggregation results in reduced fitness, natural selection will tend to eliminate strongly aggregating sequences. The analysis of distribution and variation of aggregation patterns in the human proteome using the TANGO algorithm confirms the findings of a previous study on several proteomes: the flanks of aggregation-prone regions are enriched with charged residues and proline, the so-called gatekeeper-residues. Moreover, in this study, we observed a widespread redundancy in gatekeeper usage. Interestingly, aggregating regions from key proteins such as p53 or huntingtin are among the most extensive “gatekept” sequences. As a consequence, mutations that remove gatekeepers could therefore result in a strong increase in disease-susceptibility. In a set of disease-associated mutations from the UniProt database, we find a strong enrichment of mutations that disrupt gatekeeper motifs. Closer inspection of a number of case studies indicates clearly that removing gatekeepers may play a determining role in widely varying disorders, such as van der Woude syndrome (VWS), X-linked Fabry disease (FD), and limb-girdle muscular dystrophy. Hum Mutat 0, 1–7, 2009. © 2009 Wiley-Liss, Inc.

Reconstructions of foraging behavior and diet are central to our understanding of fossil hominin ecology and evolution. Current hypotheses for the evolution of the genus Homo invoke a change in foraging behavior to include higher quality foods. Recent microwear texture analyses of fossil hominin teeth have suggested that the evolution of Homo erectus may have been marked by a transition to a more variable diet. In this study, we used microwear texture analysis to examine the occlusal surface of 2 molars from Dmanisi, a 1.8 million year old fossil hominin site in the Republic of Georgia. The Dmanisi molars were characterized by a moderate degree of surface complexity (Asfc), low textural fill volume (Tfv), and a relatively low scale of maximum complexity (Smc), similar to specimens of early African H. erectus. While caution must be used in drawing conclusions from this small sample (n = 2), these results are consistent with continuity in diet as H. erectus expanded into Eurasia.

The effects of Seal-In X5 and Dermo liner (Össur) on suspension and patient's comfort in lower limb amputees are unclear. In this report, we consider the case of a 51-yr-old woman with bilateral transtibial amputation whose lower limbs were amputated because of peripheral vascular disease. The subject had bony and painful residual limbs, especially at the distal ends. Two prostheses that used Seal-In X5 liners and a pair of prostheses with Dermo liners were fabricated, and the subject wore each for a period of 2 wks. Once the 2 wks had passed, the pistoning within the socket was assessed and the patient was questioned as to her satisfaction with both liners. This study revealed that Seal-In X5 liner decreased the residual limb pain experienced by the patient and that 1-2 mm less pistoning occurred within the socket compared with the Dermo liner. However, the patient needed to put in extra effort for donning and doffing the prosthesis. Despite this, it is clear that the Seal-In X5 liner offers a viable alternative for individuals with transtibial amputations who do not have enough soft tissue around the bone, especially at the end of the residual limb. Copyright © 2012 by Lippincott Williams & Wilkins.

http://graphics.tx.ovid.com/ovftpdfs/FPDDNCLBPCEOKH00/fs047/ovft/live/gv024/00002060/00002060-201210000-00011.pdf 
http://www.ncbi.nlm.nih.gov/pubmed/22173083

Climate change is a significant threat to global health in the 21 st century. This study aimed to investigate climate change and its health consequences in order to increase public awareness. This review study examined the climate change and its effects on human health by reviewing the literature and research conducted worldwide. According to the results, diseases associated with increased temperature and heatwaves include heat stroke, dehydration, heart and respiratory diseases. The most important diseases associated with rising sea levels and floods include harmful waterborne diseases, injuries, respiratory diseases, and mental health problems. The diseases caused by global warming include vector-borne diseases such as malaria and Lyme disease. Problems caused by forest fires include those caused by air quality degradation like respiratory diseases and mental illnesses. In general, vulnerable groups such as minors, the elderly, the disabled, pregnant women, are prone to be affecte...

Background:  Voluntary dehydration is a condition where humans do not drink appropriately in the presence of an adequate fluid supply. This may adversely affect their physical and intellectual performance. The present study aimed to describe the prevalence of voluntary dehydration among elementary school children of different ethnicities and countries of birth.Methods:  Four hundred and twenty-nine elementary school children, aged 8–10 years, from four subpopulations (Israeli-born Jewish and Bedouin-Arab children, and immigrant children who recently arrived to Israel from Eastern Europe and from Ethiopia) were studied. The level of dehydration was determined by noontime urine osmolality, from samples taken over 1 week in mid-summer. Urine osmolality <500 mOsmol kg−1 H2O was considered to be an appropriate level of hydration.Results:  Mean urine osmolality was 862 ± 211 mOsmol kg−1 H2O. Osmolality above 800 mOsmol kg−1 H2O was detected in 67.5% of the urine samples; among these, 25% were above 1000 mOsmol kg−1 H2O. The most dehydrated group was that of Israeli-born Jewish children, whereas the Bedouin-Arab children were the least dehydrated.Conclusions:  A high proportion of children who reside in a hot and arid environment were found to be in a state of moderate to severe dehydration. Bedouin ethnicity was associated with better hydration, whereas Israeli-born Jews were most severely dehydrated. Educational intervention programmes promoting water intake should start in early childhood and continue throughout life.