Prader–Willi Syndrome: A spectrum of anatomical and clinical features

Prader–Willi Syndrome (PWS) is estimated to affect 400,000 people worldwide. First described clinically in 1956, PWS is now known to be a result of a genetic mutation, involving Chromosome 15. The phenotypical appearance of individuals with the syndrome follows a similar developmental course. During infancy, universal hypotonia accompanied by feeding problems, hypogonadism, and dolichocephaly are evident. Characteristic facial features such as narrow bifrontal diameter, almond‐shaped eyes, and small mouth (with downturned corners and thin upper lip) may also be evident at this stage. In early childhood, the craniofacial features become more obvious and a global developmental delay is observed. Simultaneously, individuals develop hyperphagia that leads to excessive or rapid weight gain, which, if untreated, exists throughout their lifespan and may predispose them to numerous, serious health issues. The standard tool for differential diagnosis of PWS is genetic screening; however, clinicians also need to be aware of the characteristic features of this disorder, including differences between the genetic subtypes. As the clinical manifestations of the syndrome vary between individuals and become evident at different developmental time points, early assessment is hindered. This article focuses on the clinical and anatomical manifestations of the syndrome and highlights the areas of discrepancy and limitations within the existing literature. Clin. Anat. 29:590–605, 2016. © 2016 Wiley Periodicals, Inc.     

Interpreting DNA Evidence in Paternity Cases

The ability of jurors and juries to comprehend and utilise scientific evidence in Australian criminal trials is discussed in the context of impediments which include legislation, proce-dural law, and the inherent scientific complexity of some evidence. Existing Australian and international literature on jury performance with expert evidence is examined, and recent doctoral research utilising mock juries, real jurors and forensic scientists, is highlighted.

“Good communication with the jury is afield in which anecdote, self-assurance and self-delusion abound, within the ranks of the legal profession and the judiciary.”     

Transitioning Adolescents with Emotional and Behavioral Disorders from Most-to-Least Possible Restrictive Environments: Views of Transition Service Providers

This study examined the transition from most-to-least possible restrictive environments for youth with emotional and behavioral disorders. Components of positive transition experiences were identified from the literature as planning for transition at intake in such a way as to promote continuity of care, family involvement, academic and employment success, and assistance in navigating the adult mental health system and services. In this phenomenological study, transition service providers were interviewed to explore the transition practices currently utilized, and results were compared to recommended practices in the literature. Transition professionals were able to identify consistency, gradual change, individualization, communication between providers, opportunities for community experiences, and youth involvement in the transition as necessary to successful transition.     

Evaluation of an internet-based speech-in-noise screening test for school-age children

Objective: To evaluate a Dutch online speech-in-noise screening test (in Dutch: “Kinderhoortest”) in normal-hearing school-age children. Sub-aims were to study test–retest reliability, and the effects of presentation type and age on test results. Design: An observational cross-sectional study at school. Speech reception thresholds (SRTs) were obtained through the online test in a training condition, and two test conditions: on a desktop computer and smartphone. The order of the test conditions was counterbalanced. Study sample: Ninety-four children participated (5–12 years), of which 75 children were normal-hearing (≤25?dB HL at 0.5?kHz,?≤20?dB HL at 1–4?kHz). Results: There was a significant effect for test order for the two test conditions (first or second test), but not for presentation type (desktop computer or smartphone) (repeated measures analyses, F(1,75)?=?12.48, p?F(1,75)?=?0.01, p?=?0.982). SRT significantly improved by age year (first test: 0.25?dB SNR, 95% CI: –0.43 to –0.08, p?=?0.004. Second test: 0.29?dB SNR, 95% CI: –0.46 to –0.11; p?=?0.002). Conclusions: The online test shows potential for routine-hearing screening of school-age children, and can be presented on either a desktop computer or smartphone. The test should be evaluated further in order to establish sensitivity and specificity for hearing loss in children.     

Circulating microRNAs: A Potential Role in Diagnosis and Prognosis of Acute Myocardial Infarction

Rapid and correct diagnosis of acute myocardial infarction (AMI) plays a crucial role in saving patients'' life. Although some biomarkers (such as cardiac troponin and creatine kinase) are available for AMI diagnosis so far, there is still a clinical need for novel biomarkers, which can reliably rule in or rule out AMI immediately on admission. Circulating microRNAs (miRNAs) are a potential choice for novel biomarkers in AMI diagnosis and prognosis with high sensitivity and specificity. Circulating microRNAs are endogenous miRNAs that are detectable in whole blood, serum, or plasma in a highly stable form. Until now, around 20 circulating miRNAs were reported to be closely associated with AMI. In this minireview, we summarized recent available data on the correlation between circulating miRNAs and AMI. Some miRNAs, such as miR-208, miR-499, miR-133, and miR-1, were given special attention, since they may have a potential prospect in diagnosis and prognosis of AMI.     

Multifocal pheochromocytoma-paraganglioma in a 29-year-old woman with cyanotic congenital heart disease

Background

Multifocal pheochromocytoma/paraganglioma presenting at an early age is commonly associated with a hereditary syndrome.