Further delineation of the SCAF4-associated neurodevelopmental disorder.

While mostly de novo truncating variants in SCAF4 were recently identified in 18 individuals with variable neurodevelopmental phenotypes, knowledge on the molecular and clinical spectrum is still limited. We assembled data on 50 novel individuals with SCAF4 variants ascertained via GeneMatcher and personal communication. With detailed evaluation of clinical data, in silico predictions and structural modeling, we further characterized the molecular and clinical spectrum of the autosomal dominant SCAF4-associated neurodevelopmental disorder.

Effects of deliberate practice and structured feedback in psychotherapy training (DeeP): a study protocol of a randomized-control-trial.

Background: Psychotherapeutic competencies encompass a variety of skills that influence the work and therapeutic success of psychotherapists. In particular, interpersonal skills and the associated ability to react appropriately in complex therapy situations have already shown significant correlations with later therapeutic success. Strengthening interpersonal skills should therefore be a central aim of psychotherapy training.

Ultrasensitive Detection of Chemokines in Clinical Samples with Graphene-Based Field-Effect Transistors.

Due to their ultra-high sensitivity, solution-gated graphene-based field-effect transistors (SG-GFET) have been proposed for applications in bio-sensing. However, challenges regarding the functionalization of GFETs have prevented their applications in clinical diagnostics so far. Here GFET sensors based on van der Waals (vdW) heterostructures of single-layer graphene layered with a molecular ≈1 nm thick carbon nanomembrane (CNM) are presented.

Just-in-Time Adaptive Interventions for Behavior Change in Physiological Health Outcomes and the Use Case for Knee Osteoarthritis: Systematic Review.

Background: The prevalence of knee osteoarthritis (KOA) in the adult population is high and patients profit from individualized therapy approaches. Just-in-time adaptive interventions (JITAIs) are upcoming digital interventions for behavior change.

Objective: This systematic review summarizes the features and effectiveness of existing JITAIs regarding important physiological health outcomes and derives the most promising features for the use case of KOA.

Mobility Requirements and Joint Loading during Straight Walking and 90° Turns in Healthy Older People and Those with Hip Osteoarthritis.

: Hip mobility and joint loading in hip osteoarthritis (HOA) patients are mostly assessed during straight walking. Yet, mobility limitations in the frontal and transverse planes are rarely found during this task in subjects with mild-to-moderate symptoms. Turning movements are frequently encountered during everyday life and might require larger hip mobility compared to straight walking, especially in the frontal and transverse planes.

Effect of Weighted Blanket Versus Traditional Practices on Anxiety and Pain in Patients Undergoing Elective Surgery: A Multicenter Randomized Controlled Trial.

Perioperative anxiety is common in surgical patients and linked to poor outcomes. This multicenter randomized controlled trial assessed the effect of the use of a warm weighted blanket on presurgical anxiety and pain, as well as postsurgical restlessness, nausea, and vomiting. Levels of anxiety and pain were measured in adult patients using a 100-point visual analog scale before elective surgery.

Impact of advanced image-guided systems on correction of corneal astigmatism during FLACS.

Purpose: To determine the effectiveness of the correction of corneal astigmatism using the Alcon Image Guidance (IG) system vs manual marking in the orientation of femtosecond laser-assisted cataract surgery (FLACS).

Setting: Private practice, Albany, New York.

Design: Retrospective review.

Impact of a Semi-Rigid Knee Orthotic Intervention on Pain, Physical Activity, and Functional Capacity in Patients with Medial Knee Osteoarthritis.

: The effectiveness of knee orthoses as part of conservative treatment for patients with medial knee osteoarthritis has not been fully explored. The purpose of this study was to evaluate the effects of a novel semi-rigid knee orthosis on pain, physical activity, and functional capacity. : Pain levels, physical activity, and functional capacity were assessed in 24 participants experiencing symptomatic medial knee osteoarthritis one week before (i.

Controlled pore anisotropy in chitosan-gelatin cryogels for use in bone tissue engineering.

In tissue engineering, the development of an appropriate scaffold is crucial to provide a framework for new tissue growth. The use of cryogels as scaffolds shows promise due to their macroporous structure, but the pore size, distribution, and interconnectivity is highly variable depending on the fabrication process. The objective of the current research is to provide a technique for controlled anisotropy in chitosan-gelatin cryogels to develop scaffolds for bone tissue engineering application.

Effects of hip osteoarthritis on lower body joint kinematics during locomotion tasks: a systematic review and meta-analysis.

Introduction: Motion analysis can be used to gain information needed for disease diagnosis as well as for the design and evaluation of intervention strategies in patients with hip osteoarthritis (HOA). Thereby, joint kinematics might be of great interest due to their discriminative capacity and accessibility, especially with regard to the growing usage of wearable sensors for motion analysis. So far, no comprehensive literature review on lower limb joint kinematics of patients with HOA exists.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome (BFLS) is an X-linked intellectual disability syndrome caused by variants in the PHF6 gene. We ascertained 19 individuals from 15 families with likely pathogenic or pathogenic PHF6 variants (11 males and 8 females). One family had previously been reported.

Bioactive impact of manuka honey and bone char incorporated into gelatin and chitosan cryogels in a rat calvarial fracture model.

Bone tissue engineered scaffolds are designed to mimic the natural environment for regeneration when typical healing is inhibited. Autografts are the current gold standard for treatment but are limited by available bone and supplementary surgical sites that broaden complications and comorbidities. Cryogels are an ideal scaffold in bone regeneration due to their mechanical integrity and marcoporous structure that elicits angiogenesis and subsequently new bone tissue formation.

Sepsis survivors and caregivers perspectives on post-acute rehabilitation and aftercare in the first year after sepsis in Germany.

Background: Sepsis survivors often suffer from new morbidities. Current rehabilitation therapies are not tailored to their specific needs. The perspective of sepsis survivors and their caregivers on rehabilitation and aftercare is insufficiently understood.

POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies.

Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati-type. The predominant phenotypes observed in the cohort of 3 individuals were craniofacial anomalies reminiscent of Treacher Collins syndrome. We subsequently identified 17 additional individuals with 12 unique heterozygous variants in POLR1A and observed numerous additional phenotypes including neurodevelopmental abnormalities and structural cardiac defects, in combination with highly prevalent craniofacial anomalies and variable limb defects.

Genetic architecture and evolution of color variation in American black bears.

Color variation is a frequent evolutionary substrate for camouflage in small mammals, but the underlying genetics and evolutionary forces that drive color variation in natural populations of large mammals are mostly unexplained. The American black bear, Ursus americanus (U. americanus), exhibits a range of colors including the cinnamon morph, which has a similar color to the brown bear, U.

Comparison of Persistent Epithelial Defect Treatment With Sutureless Cryopreserved and Dehydrated Amniotic Membrane.

Purpose: To compare cryopreserved sutureless amniotic membrane (C-SAM) and dehydrated SAM (D-SAM) outpatient treatment outcomes for persistent epithelial defects (PEDs), analyze risk factors for treatment failure, and identify adverse events.

Design: Retrospective, interventional comparative clinical study.

Methods: This study was a multicenter retrospective interventional cohort from 2 tertiary corneal referral practices from 2016 to 2020.

The Use of Compression Stockings to Reduce Water Retention in the Legs During Gaming and Esports: Randomized Controlled Field Study.

Background: With the increasing digitalization of daily life, internet-based entertainment such as gaming and streaming has advanced to one of the megatrends of the 21st century. Besides offering a multitude of controversially discussed opportunities for entertainment and social interaction, there is reasonable concern about health issues caused by the absence of physical activity among activities linked to gaming and streaming.

Objective: The aim of this study is to compare the water balance of recreational gamers with and those without compression stockings during a gaming event.

Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.

Purpose: Nonmuscle myosin II complexes are master regulators of actin dynamics that play essential roles during embryogenesis with vertebrates possessing 3 nonmuscle myosin II heavy chain genes, MYH9, MYH10, and MYH14. As opposed to MYH9 and MYH14, no recognizable disorder has been associated with MYH10. We sought to define the clinical characteristics and molecular mechanism of a novel autosomal dominant disorder related to MYH10.

Effects of Hip Bracing on Gait Biomechanics, Pain and Function in Subjects With Mild to Moderate Hip Osteoarthritis.

Hip Osteoarthritis (HOA) is a common joint disease with serious impact on the quality of life of the affected persons. Additionally, persons with HOA often show alterations in gait biomechanics. Developing effective conservative treatment strategies is of paramount importance, as joint replacement is only indicated for end-stage HOA.

Authority in tobacco control in Pacific Small Island Developing States: a qualitative study of multisectoral tobacco governance in Fiji and Vanuatu.

Objective: Small Island Developing States (SIDS) struggle with implementing multisectoral tobacco control measures, and health sector actors often lack capacity to forge multisectoral commitment. This study aims to explore the sources and dynamics of authority that can enable multisectoral collaboration despite the divergence of policy agendas in tobacco control.

Methods: We applied a qualitative, explorative case study design, with data collection and analysis guided by an analytical framework that identifies sources and dynamics of authority.

Bona Fide Th17 Cells without Th1 Functional Plasticity Protect against Influenza.

Optimal transcriptional programming needed for CD4 T cells to protect against influenza A virus (IAV) is unclear. Most IAV-primed CD4 T cells fit Th1 criteria. However, cells deficient for the Th1 "master regulator," T-bet, although marked by reduced Th1 identity, retain robust protective capacity.

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Microcomputed tomography is an important technique for distinguishing the vascular network from tissues with similar X-ray attenuation. Here, we describe a composite of barium sulfate (BaSO) nanoparticles, calcium carbonate (CaCO) nanoparticles, and alginate that provides improved performance over microscale BaSO particles, which are currently used clinically as X-ray contrast agents. BaSO and CaCO nanoparticles were synthesized using a polyol method with tetraethylene glycol as solvent and capping agent.

Scaffolds for Use in Craniofacial Bone Regeneration.

Tissue-engineered scaffolds have been identified as appropriate templates for bone regeneration, especially complex geometries seen in craniofacial defects. Here we describe the general fabrication and modification of hydrogels, cryogels, and electrospun scaffolds. These scaffolds offer a variety of templates for facilitating bone growth and regeneration in craniofacial applications.

Leveraging publicly available coronavirus data to identify new therapeutic targets for COVID-19.

Many important questions remain regarding severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), the viral pathogen responsible for COVID-19. These questions include the mechanisms explaining the high percentage of asymptomatic but highly infectious individuals, the wide variability in disease susceptibility, and the mechanisms of long-lasting debilitating effects. Bioinformatic analysis of four coronavirus datasets representing previous outbreaks (SARS-CoV-1 and MERS-CoV), as well as SARS-CoV-2, revealed evidence of diverse host factors that appear to be coopted to facilitate virus-induced suppression of interferon-induced innate immunity, promotion of viral replication and subversion and/or evasion of antiviral immune surveillance.