A Genetic Bridge Between Medicine and Neurodiversity for Autism.

Autism represents a large spectrum of diverse individuals with varying underlying genetic architectures and needs. For some individuals, a single de novo or ultrarare genetic variant has a large effect on the intensity of specific dimensions of the phenotype, while, for others, a combination of thousands of variants commonly found in the general population are involved. The variants with large impact are found in up to 30% of autistic individuals presenting with intellectual disability, significant speech delay, motor delay, and/or seizures.

Blackbox error management: how do practices deal with critical incidents in everyday practice? A qualitative interview study.

Background: Error management plays a key role in patient safety. It is a systematic approach aimed at identifying and learning from critical incidents by reporting, documenting and analyzing them. Almost nothing is known about the incidents physicians in outpatient care consider to be critical and how they deal with them.

Safety and Efficacy of Hypersonic Vitrectomy for Retinal Reattachment Surgery in Proliferative Vitreoretinopathies.

Introduction: To investigate the safety and efficacy of the Vitesse hypersonic vitrectomy device for retinal reattachment surgery in proliferative vitreoretinopathy (PVR) or proliferative diabetic vitreoretinopathy (PDVR) cases. The Vitesse device utilizes hypersonic technology to liquefy instead of cutting the vitreous, providing an alternative to the traditional pneumatic guillotine cutter.

Material And Methods: A prospective, one-armed, non-comparative, open-label study was performed.

Hyperspectral Imaging Allows Evaluation of Free Flaps in Craniomaxillofacial Reconstruction.

Introduction: Treatment of extended defects after tumor resection in oral, maxillofacial, and facial surgery (craniomaxillofacial) is usually performed by free microvascular flaps. Evaluation of flap survival is crucial, especially in the first hours after insertion and connection. For flap evaluation various invasive and noninvasive methods have been developed.

Intention Attribution in Children and Adolescents with Autism Spectrum Disorder: An EEG Study.

The ability to infer intentions from observed behavior and predict actions based on this inference, known as intention attribution (IA), has been hypothesized to be impaired in individuals with autism spectrum disorder (ASD). The underlying neural processes, however, have not been conclusively determined. The aim of this study was to examine the neural signature of IA in children and adolescents with ASD, and to elucidate potential links to contextual updating processes using electroencephalography.

Performance of antenatal imaging to predict placenta accreta spectrum degree of severity.

Introduction: In cases of placenta accreta spectrum, a precise antenatal diagnosis of the suspected degree of invasion is essential for the planning of individual management strategies at delivery. The aim of this work was to evaluate the respective performances of ultrasonography and magnetic resonance imaging for the antenatal assessment of the severity of placenta accreta spectrum disorders included in the database. The secondary objective was to identify descriptors related to the severity of placenta accreta spectrum disorders.

Examining the Boundary Sharpness Coefficient as an Index of Cortical Microstructure in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is associated with atypical brain development. However, the phenotype of regionally specific increased cortical thickness observed in ASD may be driven by several independent biological processes that influence the gray/white matter boundary, such as synaptic pruning, myelination, or atypical migration. Here, we propose to use the boundary sharpness coefficient (BSC), a proxy for alterations in microstructure at the cortical gray/white matter boundary, to investigate brain differences in individuals with ASD, including factors that may influence ASD-related heterogeneity (age, sex, and intelligence quotient).

Hypopituitarism in Wilson's disease resolved after copper-chelating therapy.

Summary: Wilson's disease (WD) is a rare disorder of copper metabolism usually presenting with variable liver damage and neuropsychiatric symptoms. Here we report a 39-year-old Taiwanese female with late manifestation of WD presenting with gonadotroph, thyreotroph and corticotroph hypopituitarism. Molecular genetic testing revealed compound heterozygosity for two mutations in exons 12 and 14 (c.

Undergraduate Students' Critical Online Reasoning-Process Mining Analysis.

To successfully learn using open Internet resources, students must be able to , and Defined as critical online reasoning (COR), this construct is operationalized on two levels in our study: (1) the using the newly developed Critical Online Reasoning Assessment (CORA), and (2) the using event log data, including gaze durations and fixations. The written responses of 32 students for one CORA task were scored by three independent raters. The resulting score was operationalized as "task performance," whereas the gaze fixations and durations were defined as indicators of "process performance.

Injury surveillance in elite field hockey: a pilot study of three different recording techniques.

Objective: In field hockey, injuries are assessed by various recording techniques leading to a heterogenic collection of poorly comparable injury data.

Methods: Injury data were prospectively collected at the 2016 Men's Hockey Junior World Cup using the match injury reports (MIRs), video injury clips provided by the Fédération Internationale de Hockey, and daily medical reports (DMRs). A pilot study comparing injury type, mechanism, location on the field, injured body part and overall injury incidence among the different injury recording techniques was performed.

Ethyl Pyruvate Reduces Systemic Leukocyte Activation via Caspase-1 and NF-κB After Blunt Chest Trauma and Haemorrhagic Shock.

Blunt chest (thoracic) trauma (TxT) and haemorrhagic shock with subsequent resuscitation (H/R) induce strong systemic and local inflammatory response, which is closely associated with apoptotic cell loss and subsequently impaired organ function. The underlying mechanisms are not completely understood, therefore, the treatment of patients suffering from TxT+H/R is challenging. In our recent studies, we have demonstrated local anti-inflammatory effects of ethyl pyruvate (EtP) in lung and liver after TxT+H/R.

Does the severity of low-gradient aortic stenosis classified by computed tomography-derived aortic valve calcification determine the outcome of patients after transcatheter aortic valve implantation (TAVI)?

Objectives: Aortic valve calcification (AVC) determined by computed tomography has emerged as a complementary measure of aortic stenosis (AS) severity and as a predictor of adverse events. Thus, AVC can guide further treatment decisions in patients with low-gradient AS (LG-AS). We compared the symptomatic and prognostic outcome of patients with low vs.

Lymphocyte predominant cells detect Moraxella catarrhalis-derived antigens in nodular lymphocyte-predominant Hodgkin lymphoma.

Nodular lymphocyte-predominant Hodgkin lymphoma (NLPHL) is a rare lymphoma of B-cell origin with frequent expression of functional B-cell receptors (BCRs). Here we report that expression cloning followed by antigen screening identifies DNA-directed RNA polymerase beta' (RpoC) from Moraxella catarrhalis as frequent antigen of BCRs of IgD LP cells. Patients show predominance of HLA-DRB1*04/07 and the IgVH genes encode extraordinarily long CDR3s.

Outcome of patients with heart failure after transcatheter aortic valve implantation.

Aims: Patients with aortic stenosis (AS) may have concomitant heart failure (HF) that determines prognosis despite successful transcatheter aortic valve implantation (TAVI). We compared outcomes of TAVI patients with low stroke volume index (SVI) ≤35 ml/m2 body surface area in different HF classes.

Methods And Results: Patients treated by transfemoral TAVI at our center (n = 1822) were classified as 1) 'HF with preserved ejection fraction (EF)' (HFpEF, EF ≥50%), 2) 'HF with mid-range EF' (HFmrEF, EF 40-49%), or 3) 'HF with reduced EF' (HFrEF, EF <40%).

1-Year Survival After TAVR of Patients With Low-Flow, Low-Gradient and High-Gradient Aortic Valve Stenosis in Matched Study Populations.

Objectives: This study sought to examine whether the prognosis of patients with severe aortic stenosis (AS) having high versus low transvalvular mean pressure gradients (MPGs) is intrinsically different after transcatheter aortic valve replacement (TAVR), even after strict matching of baseline parameters.

Background: Patients with low MPG are characterized by higher cardiovascular risk and more comorbidities than other AS patients are.

Methods: In this retrospective, single-center study involving 2,282 patients, 3 groups were derived according to the following criteria: 1) high-gradient AS (HG-AS) (MPG ≥40 mm Hg); 2) low-flow, low-gradient AS (LFLG-AS) (MPG <40 mm Hg, ejection fraction [EF] ≤40%, stroke volume index ≤35 ml/m); 3) paradoxical LFLG-AS (pLFLG-AS) (similar to LFLG-AS but with EF ≥50%).

Monotrauma is associated with enhanced remote inflammatory response and organ damage, while polytrauma intensifies both in porcine trauma model.

Aim: Severely injured patients experience substantial immunological stress upon traumatic insult. Next to the direct local tissue injury also other organs, which are not directly injured such as liver and lung, are frequently affected by a so-called remote organ damage (ROD) after trauma. Thus, we studied the inflammatory response of lung and liver either after isolated femur fracture as example for ROD, or after multiple trauma in a porcine polytrauma model.

Evaluation of FISH for Blood Cultures under Diagnostic Real-Life Conditions.

Background: The study assessed a spectrum of previously published in-house fluorescence in-situ hybridization (FISH) probes in a combined approach regarding their diagnostic performance with incubated blood culture materials.

Methods: Within a two-year interval, positive blood culture materials were assessed with Gram and FISH staining. Previously described and new FISH probes were combined to panels for Gram-positive cocci in grape-like clusters and in chains, as well as for Gram-negative rod-shaped bacteria.

Efficacy of Mechanical Thrombectomy Using Stent Retriever and Balloon-Guiding Catheter.

Purpose: Intra-arterial therapy of acute ischemic stroke has developed rapidly in recent years. Due to proven efficacy in randomized trials, stent retrievers were replacing first-generation thrombectomy devices and have been defined as method of choice. However, aspiration catheters or a combination of several techniques have shown promising rates of successful recanalizations.

Necrotizing enterocolitis as a prognostic factor for the neurodevelopmental outcome of preterm infants - match control study after 2years.

Purpose: Necrotizing enterocolitis (NEC) in very low birth weight infants is a risk factor for developmental delay. To our knowledge, there are no studies published investigating the neurodevelopmental outcome of patients with NEC comparing surgically treated and conservatively treated patients versus match paired controls. The aim of this retrospective case control study was to measure the neurodevelopmental outcome of patients with NEC who were treated surgically or conservatively METHODS: All patients were identified, who have been diagnosed with NEC (ICD-10 code, P77) born between 2006 and 2013.

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations.

Background: The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes.

Systematic review shows that pathological lead points are important and frequent in intussusception and are not limited to infants.

Unlabelled: Intussusception is the most clinically relevant cause of bowel obstruction in infancy and can be idiopathic or occur as a result of pathological lead points. The incidence of these pathological lead points varies from 0.3 to 20%, and they can be mucosal, intramural or extrinsic structures.

β-Blockers and ivabradine differentially affect cardiopulmonary function and left ventricular filling index.

Objective: Patients with left ventricular (LV) diastolic dysfunction are characterized by exertional dyspnoea. Heart rate (HR) reduction by β-blockers can improve exercise tolerance by prolonging LV filling, but their negative inotropic and lusitropic properties can be detrimental in this disease. We tested the effects of administering ivabradine, a HR-lowering drug without impact on cardiac kinetics that may favorably affect diastolic function.