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

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

Presentation of Study Results: Kalkbrenner et al. Respond

We are grateful for the opportunity to comment on the importance of careful interpretation and communication of epidemiological results. We concur with Burstyn et al. that scientists have a great responsibility to present their findings accurately. Indeed, scientists have a duty not only to generate research results but also to engage in dialog about the interpretation and meaning of these results

Reproductive Patterns Among Mothers of Males Diagnosed With Duchenne or Becker Muscular Dystrophy

Diagnosis of a child with Duchenne or Becker muscular dystrophy (DBMD) may impact future maternal reproductive choice; however, little is known about the reproductive patterns of mothers with a male child diagnosed with DBMD. Using population-based surveillance data collected by the muscular dystrophy surveillance, tracking, and research network, the proportion of mothers who conceived and delivered a live birth following the diagnosis of DBMD in an affected male child and factors associated with such reproductive choice were identified. To accomplish this, maternal demographic data were linked to birth certificate data to construct the reproductive history for 239 mothers. Univariable and bivariable analyses were conducted to determine the proportion of mothers delivering a live birth and associated factors. By the time of the current study, 96 (40.2%) of the 239 mothers had at least one live birth following delivery of their oldest affected male child; 53 (22.2%) of these mothers had a live birth before and 43 (18.0%) had a live birth after DBMD diagnosis of a male child. Mothers with a live birth after diagnosis were significantly younger at diagnosis of the oldest affected male child (26.2 AE 4.2 years vs. 31.5 AE 5.5 years), and were less likely to be white non-Hispanic compared to those with no live birth after diagnosis. These results suggest that about one in five mothers deliver a live birth subsequent to DBMD diagnosis in a male child. Maternal age and race/ethnicity were associated with this reproductive choice