Bloom\u27s Syndrome

Bloom’s syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, sparseness of subcutaneous fat tissue throughout infancy and early childhood, and short stature throughout postnatal life that in most affected individuals is accompanied by an erythematous and sun-sensitive skin lesion of the face. Gastroesophageal reflux (GER) is common and very possibly responsible for infections of the upper respiratory tract, the middle ear, and the lung that occur repeatedly in most persons with BSyn. Although most affected individuals have normal intellectual ability, many exhibit a poorly defined learning disability. Women may be fertile, but menopause occurs unusually early; men are infertile. Serious medical complications that are much more common than in the general population and that also appear at unusually early ages are chronic obstructive pulmonary disease, diabetes mellitus resembling the adult-onset type, and cancer of a wide variety of types and anatomic sites. BSyn occurs rarely in all national and ethnic groups but is relatively less rare in Ashkenazi Jews

Palliative care services in families of males with muscular dystrophy: Data from MD STARnet

Introduction: Information on use of palliative care services among individuals with Duchenne and Becker muscular dystrophy is scant despite the clearly documented need. Methods: We examined associations between uptake of palliative care services by 233 males with Duchenne and Becker muscular dystrophy aged 12 and older for both caregiver and affected male characteristics using the Muscular Dystrophy Surveillance Tracking and Research Network baseline interview. Results: Ninety-one percent of caregivers (213/233) used at least one palliative care service. Case management had the highest frequency of use (59%). Use of palliative care was more frequently associated with the characteristics of affected males, as were some individual palliative care services. Utilization of six individual services differed among Muscular Dystrophy Surveillance Tracking and Research Network sites. While research suggests that pain is a frequent problem in Duchenne and Becker muscular dystrophy, only 12.5% reported use of pain management services. Discussion: Although palliative care use among families of males with Duchenne and Becker muscular dystrophy is high overall, there is much variability in use of individual services. Use of palliative care is driven by disease experience in the affected male. Many of the care recommendations for these individuals highlight the importance for early involvement of palliative care professionals.Centers for Disease Control and Prevention [DD000187, DD000189, DD000190, DD000191]Open access journalThis item from the UA Faculty Publications collection is made available by the University of Arizona with support from the University of Arizona Libraries. If you have questions, please contact us at [email protected]

Radiation capture and conversion efficiencies of Miscanthus sacchariflorus, M. sinensis and their naturally occurring hybrid M. × giganteus

Miscanthus is a rhizomatous C4 grass of great interest as a biofuel crop because it has the potential to produce high yields over a wide geographical area with low agricultural inputs on marginal land less suitable for food production. At the moment, a clonal interspecific hybrid Miscanthusxgiganteus is the most widely cultivated and studied in Europe and the United States, but breeding programmes are developing newer more productive varieties. Here, we quantified the physiological processes relating to whole season yield in a replicated plot trial in Wales, UK. Light capture and conversion efficiency were parameterized for four carefully selected genotypes (M.sinensis, M.sacchariflorus and Miscanthusxgiganteus). Differences in the canopy architecture in mature stands as measured by the extinction coefficient (k) were small (0.55-0.65). Sensitivity analysis on a mathematical model of Miscanthus was performed to quantify the accumulative intercepted photosynthetically active radiation (iPAR) in the growing season using (i) k, (ii) variation in the thermal responses of leaf expansion rate, (iii) base temperature for degree days and (iv) date start of canopy expansion. A 10% increase in k or leaf area per degree day both had a minimal effect on iPAR (3%). Decreasing base temperature from 10 to 9 degrees C gave an 8% increase in iPAR. If the starting date for canopy expansion was the same as shoot emergence date, then the iPAR increases by 12.5%. In M.xgiganteus, the whole season above ground and total (including below ground) radiation-use efficiency (RUE) ranged from 45% to 37% higher than the noninterspecific hybrid genotypes. The greater yields in the interspecific hybrid M.xgiganteus are explained by the higher RUE and not by differences in iPAR or partitioning effects. Studying the mechanisms underlying this complex trait could have wide benefits for both fuel and food production

Maternal Smoking during Pregnancy and the Prevalence of Autism Spectrum Disorders, Using Data from the Autism and Developmental Disabilities Monitoring Network

Background: Reported associations between gestational tobacco exposure and autism spectrum disorders (ASDs) have been inconsistent

Clinical evidence for a mandibular to maxillary transformation in auriculocondylar syndrome

Université Sorbonne Paris-Cité Pôle - project number SPC/JFG/2013-031ANR - project EvoDevoMut 2010E-Rare CRANIRARE gran

Ecological indicators for assessing and communicating seagrass status and trends in Florida Bay

A suite of seagrass indicator metrics is developed to evaluate four essential measures of seagrass community status for Florida Bay. The measures are based on several years of monitoring data using the Braun-Blanquet Cover Abundance (BBCA) scale to derive information about seagrass spatial extent, abundance, species diversity and presence of target species. As ecosystem restoration proceeds in south Florida, additional freshwater will be discharged to Florida Bay as a means to restore the bay\u27s hydrology and salinity regime. Primary hypotheses about restoring ecological function of the keystone seagrass community are based on the premise that hydrologic restoration will increase environmental variability and reduce hypersalinity. This will create greater niche space and permit multiple seagrass species to co-exist while maintaining good environmental conditions for Thalassia testudinum, the dominant climax seagrass species. Greater species diversity is considered beneficial to habitat for desired higher trophic level species such as forage fish and shrimp. It is also important to maintenance of a viable seagrass community that will avoid die-off events observed in the past. Indicator metrics are assigned values at the basin spatial scale and are aggregated to five larger zones. Three index metrics are derived by combining the four indicators through logic gates at the zone spatial scale and aggregated to derive a single bay-wide system status score standardized on the System-wide Indicator protocol. The indicators will provide a way to assess progress toward restoration goals or reveal areas of concern. Reporting for each indicator, index and overall system status score is presented in a red–yellow–green format that summarizes information in a readily accessible form for mangers, policy-makers and stakeholders in planning and implementing an adaptive management strategy