Aetiological investigations in early developmental impairment: are they worth it?

Objective: To study the frequency a diagnosis is made in children with early developmental impairment (EDI), and the contribution made to diagnosis by specific investigations.

Design: Retrospective case note review.

Setting: Community, neurodisability and neurology department at a UK tertiary centre.

Considerations and treatment options for patients with comorbid atrial fibrillation and diabetes mellitus.

Atrial fibrillation (AF) and diabetes mellitus (DM) are common worldwide and their incidence is increasing, representing a significant public health and economic burden as well as an increase in individual increased morbidity and mortality risk profiles. Both conditions are closely related, as patients with DM are at increased risk of incident AF, and AF patients with DM are at higher risk of cardiovascular events compared to non-AF patients. Areas covered: This review article aims to provide an overview of the current evidence linking DM and AF, as well as the impact of obesity, weight loss and stroke on these coexisting conditions.

Investigations into the Sarcomeric Protein and Ca-Regulation Abnormalities Underlying Hypertrophic Cardiomyopathy in Cats ().

Hypertrophic cardiomyopathy (HCM) is the most common single gene inherited cardiomyopathy. In cats () HCM is even more prevalent and affects 16% of the outbred population and up to 26% in pedigree breeds such as Maine Coon and Ragdoll. Homozygous mutations have been identified in these breeds but the mutations in other cats are unknown.

Interview with Derek Connolly.

Dr Derek Connolly speaks to Adam Price-Evans, Commissioning Editor of Future Cardiology: Derek Leslie Connolly is a Consultant Interventional Cardiologist at Birmingham City Hospital (UK). He qualified from the University of Edinburgh (UK) summa cum laude in Pharmacology in 1985 and in Medicine in 1988 where he was the Brunton Medalist. As a Carnegie scholar at the University of California, San Diego (CA, USA) he saw the early promise of angioplasty and changed his career plan from cardiac surgery to coronary intervention.

The Effect of Case Severity on Sentence Length in Cases of Child Sexual Assault in Canada.

Surprisingly, little research exists on the determination of sentence length in cases of child sexual assault. This is striking given the profound short-term and long-term consequences this crime can have on victims and their families. Previous research shows that severity of the offense commonly accounts for much of the variability in sentences in this context.

Anatomical subgroup analysis of the MERIDIAN cohort: failed commissuration.

Objective: To assess the contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with either agenesis or hypogenesis of the corpus callosum (referred to collectively as failed commissuration) on antenatal ultrasound.

Methods: This was a subgroup analysis of the MERIDIAN study of fetuses with failed commissuration (with or without ventriculomegaly) diagnosed on ultrasound in women who had MRI assessment within 2 weeks of ultrasound and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI was studied, as well as indicators of diagnostic confidence and effects on prognosis/clinical management.

Anatomical subgroup analysis of the MERIDIAN cohort: posterior fossa abnormalities.

Objective: To assess the diagnostic and clinical contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with abnormalities of the posterior fossa as the only intracranial abnormality recognized on antenatal ultrasound.

Methods: This was a subgroup analysis of the MERIDIAN study of fetuses with abnormalities of the posterior fossa (with or without ventriculomegaly) diagnosed on antenatal ultrasound in women who had MRI within 2 weeks of ultrasound and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI is reported, as well as indicators of diagnostic confidence and effects on prognosis and clinical management.

Mitral Annular Plane Systolic Excursion and Tricuspid Annular Plane Systolic Excursion in Cats with Hypertrophic Cardiomyopathy.

Background: Left ventricular (LV) systolic dysfunction is associated with increased risk of death in cats with hypertrophic cardiomyopathy (HCM). Mitral and tricuspid annular plane systolic excursion (MAPSE and TAPSE, respectively) are measures of longitudinal systolic function and are reduced in human patients with HCM.

Hypotheses: Cats with HCM have lower MAPSE and TAPSE compared to control cats; lower MAPSE and TAPSE are associated with the presence of congestive heart failure (CHF) and reduced survival time.

Multiple sclerosis update: use of MRI for early diagnosis, disease monitoring and assessment of treatment related complications.

MRI has long been established as the most sensitive in vivo technique for detecting multiple sclerosis (MS) lesions. The 2010 revisions of the McDonald Criteria have simplified imaging criteria, such that a diagnosis of MS can be made on a single contrast-enhanced MRI scan in the appropriate clinical context. New disease-modifying therapies have proven effective in reducing relapse rate and severity.

Anatomical subgroup analysis of the MERIDIAN cohort: ventriculomegaly.

Objective: To assess the contribution of fetal magnetic resonance imaging (MRI) in fetuses of the MERIDIAN cohort diagnosed with ventriculomegaly (VM) as the only abnormal intracranial finding on antenatal ultrasound.

Methods: This was a subgroup analysis of the MERIDIAN study of fetuses with only VM diagnosed on ultrasound in women who had a subsequent MRI examination within 2 weeks and for whom outcome reference data were available. The diagnostic accuracy of ultrasound and MRI was reported in relation to the severity of VM.

Change in diagnostic confidence brought about by using in utero MRI for fetal structural brain pathology: analysis of the MERIDIAN cohort.

Aim: To measure possible change in diagnostic confidence by performing in utero magnetic resonance imaging (iuMRI) studies on fetuses with brain abnormalities recognised on ultrasonography (US).

Materials And Methods: The analyses are based on the primary cohort from the prospective MERIDIAN study, which consisted of 570 fetuses with brain abnormalities detected on US, with iuMRI performed within 2 weeks of US and complete outcome reference data. The cohort was recruited between July 2011 and August 2014, and written informed consent was obtained for all participants.

Moyamoya Syndrome Associated With Hereditary Spherocytosis: An Emerging Clinical Entity.

Moyamoya syndrome is an unusual cerebrovascular disorder, which has rarely been reported in association with hereditary spherocytosis. We present the case of a 6-year-old boy with hereditary spherocytosis who was diagnosed with Moyamoya syndrome following a stroke. We discuss why these conditions may coexist and briefly outline the management of such children.

IFI16 and cGAS cooperate in the activation of STING during DNA sensing in human keratinocytes.

Many human cells can sense the presence of exogenous DNA during infection though the cytosolic DNA receptor cyclic GMP-AMP synthase (cGAS), which produces the second messenger cyclic GMP-AMP (cGAMP). Other putative DNA receptors have been described, but whether their functions are redundant, tissue-specific or integrated in the cGAS-cGAMP pathway is unclear. Here we show that interferon-γ inducible protein 16 (IFI16) cooperates with cGAS during DNA sensing in human keratinocytes, as both cGAS and IFI16 are required for the full activation of an innate immune response to exogenous DNA and DNA viruses.

Nutrient Status 9 Years After Biliopancreatic Diversion with Duodenal Switch (BPD/DS): an Observational Study.

Background: Since biliopancreatic diversion with duodenal switch (BPD/DS) produces hypoabsorption, evaluation of long-term nutrient changes is appropriate.

Methods: Measurements of micronutrients, trace elements, PTH, iron studies, and protein were completed for consented patients at baseline prior to surgery and at yearly intervals. The patients were advised and supplements were adjusted by blood studies with compliance checks.

Different Training Loads Partially Influence Physiological Responses to the Preparation Period in Basketball.

Ferioli, D, Bosio, A, La Torre, A, Carlomagno, D, Connolly, DR, and Rampinini, E. Different training loads partially influence physiological responses to preparation period in basketball. J Strength Cond Res 32(3): 790-797, 2018-The aim of this study was to compare the session rating of perceived exertion training load (sRPE-TL), training volume (TV), and the changes in physical fitness between professional (n = 14) and semiprofessional (n = 18) basketball players during the preparation period.

A qualitative comparison of arterial spin labelling and dynamic susceptibility contrast MRI in 52 children with a range of neurological conditions.

Objective: To assess the usefulness of arterial spin labelling (ASL) compared with dynamic susceptibility contrast (DSC) perfusion MRI for typical paediatric neuroimaging applications at 1.5 T.

Methods: 52 children (age: 4 months-17 years) with a variety of neurological disorders were scanned using three-dimensional ASL and echoplanar imaging DSC sequences.

Ecological impacts and management implications of reef walking on a tropical reef flat community.

Continued growth of tourism has led to concerns about direct and indirect impacts on the ecology of coral reefs and ultimate sustainability of these environments under such pressure. This research assessed impacts of reef walking by tourists on a relatively pristine reef flat community associated with an 'ecoresort' on the Great Barrier Reef, Australia. Heavily walked areas had lower abundances of live hard coral but greater amounts of dead coral and sediment.

The Impact of Biliopancreatic Diversion with Duodenal Switch (BPD/DS) Over 9 Years.

Background: There is limited information on the multiple long-term effects of the biliopancreatic diversion with duodenal switch (BPD/DS).

Methods: Patients who consented to a BPD/DS from 1999 to 2010 were evaluated for weight change, complications, comorbidity resolution, body composition, quality of life, and depressive symptoms during visits at 1, 3,5, 7, and 9 years. Descriptive statistics, analysis of variance, and pair-wise comparisons were calculated for each of the five follow-up cohorts vs.

Resistance to BET Bromodomain Inhibitors Is Mediated by Kinome Reprogramming in Ovarian Cancer.

Small-molecule BET bromodomain inhibitors (BETis) are actively being pursued in clinical trials for the treatment of a variety of cancers, but the mechanisms of resistance to BETis remain poorly understood. Using a mass spectrometry approach that globally measures kinase signaling at the proteomic level, we evaluated the response of the kinome to targeted BETi treatment in a panel of BRD4-dependent ovarian carcinoma (OC) cell lines. Despite initial inhibitory effects of BETi, OC cells acquired resistance following sustained treatment with the BETi JQ1.

Follicle-Stimulating Hormone Receptor Is Expressed by Most Ovarian Cancer Subtypes and Is a Safe and Effective Immunotherapeutic Target.

Purpose: To define the safety and effectiveness of T cells redirected against follicle-stimulating hormone receptor (FSHR)-expressing ovarian cancer cells.

Experimental Design: FSHR expression was determined by Western blotting, immunohistochemistry, and qPCR in 77 human ovarian cancer specimens from 6 different histologic subtypes and 20 human healthy tissues. The effectiveness of human T cells targeted with full-length FSH in vivo was determined against a panel of patient-derived xenografts.

Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome.

Mouse models of the transcriptional modulator Methyl-CpG-Binding Protein 2 (MeCP2) have advanced our understanding of Rett syndrome (RTT). RTT is a 'prototypical' neurodevelopmental disorder with many clinical features overlapping with other intellectual and developmental disabilities (IDD). Therapeutic interventions for RTT may therefore have broader applications.