Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Intra-arterial lidocaine administration of lidocaine in middle meningeal artery for short-term treatment of subarachnoid hemorrhage-related headaches.

Background And Purpose: We report short- and intermediate-term effects on headaches with intra-arterial injection of lidocaine in the middle meningeal artery in patients with severe headaches associated with subarachnoid hemorrhage.

Methods: We treated seven patients with intra-arterial lidocaine in doses up to 50 mg in each middle meningeal artery via a microcatheter bilaterally (except in one patient). We recorded the maximum intensity of headache (graded by 11-point numeric rating scale) prior to procedure and every day for the next 10 days or discharge, whichever came first.

Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.

Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants.

A focus on c-Jun-N-terminal kinase signaling in sepsis-associated multiple organ dysfunction: Mechanisms and therapeutic strategies.

Sepsis is a life-threatening condition characterized by a widespread inflammatory response to infection, inevitably leading to multiple organ dysfunctions. Extensive research, both in vivo and in vitro, has revealed key factors contributing to sepsis, such as apoptosis, inflammation, cytokine release, oxidative stress, and systemic stress. The changes observed during sepsis-induced conditions are mainly attributed to altered signal transduction pathways, which play a critical role in cell proliferation, migration, and apoptosis.

Clinical Validation of Deep Learning for Segmentation of Multiple Dental Features in Periapical Radiographs.

Periapical radiographs are routinely used in dental practice for diagnosis and treatment planning purposes. However, they often suffer from artifacts, distortions, and superimpositions, which can lead to potential misinterpretations. Thus, an automated detection system is required to overcome these challenges.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Automatic feature segmentation in dental panoramic radiographs.

Objective: The purpose of the present study was to verify the diagnostic performance of an AI system for the automatic detection of teeth, caries, implants, restorations, and fixed prosthesis on panoramic radiography.

Methods: This is a cross-sectional study. A dataset comprising 1000 panoramic radiographs collected from 500 adult patients was analyzed by an AI system and compared with annotations provided by two oral and maxillofacial radiologists.

Association of socioeconomic status and physical therapy compliance after arthroscopic shoulder labrum repair.

Background: Socioeconomic status has been shown to impact a patient's access to orthopedic care, but outcomes such as compliance with physical therapy and time to return to full activities has not been established. The aim of this study is to investigate the impact of socioeconomic status on physical therapy compliance and return to play time specifically in patients with shoulder instability. The area deprivation index (ADI) is a validated tool using factors from the US Census that measures socioeconomic deprivation in neighborhoods.

Reverse Total Shoulder Arthroplasty in an Adult With Achondroplasia.

Achondroplasia can result in many skeletal manifestations, and degenerative osteoarthritis can develop in patients with achondroplasia. Morphologic changes to both the humerus and glenoid-short humeri with patulous metaphyses and a medialized glenoid-can cause challenges that must be overcome to achieve a successful surgical result in a patient with shoulder dysfunction. Because patients with achondroplasia have near-normal life expectancies, the operative shoulder must be functional as well as quite durable in the long term.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Feasibility of whole-body MRI for cancer screening in children and young people with ataxia telangiectasia: A mixed methods cross-sectional study.

Background/objectives: Ataxia telangiectasia (A-T) is an inherited multisystem disorder with increased sensitivity to ionising radiation and elevated cancer risk. Although other cancer predisposition syndromes have established cancer screening protocols, evidence-based guidelines for cancer screening in A-T are lacking. This study sought to assess feasibility of a cancer screening protocol based on whole-body MRI (WB-MRI) in children and young people with A-T.

Naringin: A flavanone with a multifaceted target against sepsis-associated organ injuries.

Background: Sepsis causes multiple organ dysfunctions and raises mortality and morbidity rates through a dysregulated host response to infection. Despite the growing research interest over the last few years, no satisfactory treatment exists. Naringin, a naturally occurring bioflavonoid with vast therapeutic potential in citrus fruits and Chinese herbs, has received much attention for treating sepsis-associated multiple organ dysfunctions.

Dual Role of TRPV1 Channels in Cerebral Stroke: An Exploration from a Mechanistic and Therapeutic Perspective.

Transient receptor potential vanilloid subfamily member 1 (TRPV1) has been strongly implicated in the pathophysiology of cerebral stroke. However, the exact role and mechanism remain elusive. TPRV1 channels are exclusively present in the neurovascular system and involve many neuronal processes.

Novel Allograft in the Load-Bearing Portion of the Femoral Head.

An osteochondral defect in the hip can be a painful and limiting pathologic process. The damaged joint may progress into premature osteoarthritis, further limiting a patient's functionality. A 24-year-old male presented to the clinic with left hip pain.

Viable cartilage allograft outperforms existing treatments for focal knee cartilage defects.

Purpose: Viable cartilage allograft (VCA) is a cartilage tissue matrix that contains cryopreserved viable allogeneic cartilage fibres. This study aimed to assess safety and benefits in treating focal knee cartilage defects with VCA. We hypothesized that VCA is a safe single-stage procedure in isolated chondral defects.

Self-expanding versus balloon expandable stent for intracranial arterial stenosis: A systematic review and meta-analysis.

Background And Purpose: There are limited data regarding the comparison of balloon expandable stents (BES) and self-expanding stents (SES) for the treatment of intracranial arterial stenosis.

Methods: We conducted a systematic review to identify studies that compared SES and BES in patients with symptomatic intracranial arterial stenosis. Data were extracted from relevant studies found through a search of PubMed, Scopus, and Web of Science until from January 1, 2010 to September 28, 2023.

Short-Term Outcomes of Expedited Arthroscopic Tensionable Knotless Biologic Tuberoplasty for Massive Irreparable Rotator Cuff Tears.

Massive irreparable rotator cuff tears in the nonarthritic patient are challenging because of the high failure rate and technical difficulty of intraoperative repair. We examined the outcomes of expedited arthroscopic tensionable knotless biologic tuberoplasty for massive irreparable rotator cuff tears. Eleven patients with an average follow-up of 8.

Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamics.

BLOC-one-related complex (BORC) is a multiprotein complex composed of eight subunits named BORCS1-8. BORC associates with the cytosolic face of lysosomes, where it sequentially recruits the small GTPase ARL8 and kinesin-1 and -3 microtubule motors to promote anterograde transport of lysosomes toward the peripheral cytoplasm in non-neuronal cells and the distal axon in neurons. The physiological and pathological importance of BORC in humans, however, remains to be determined.

Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.

Purpose: SLC4A10 encodes a plasma membrane-bound transporter, which mediates Na-dependent HCO import, thus mediating net acid extrusion. Slc4a10 knockout mice show collapsed brain ventricles, an increased seizure threshold, mild behavioral abnormalities, impaired vision, and deafness.

Methods: Utilizing exome/genome sequencing in families with undiagnosed neurodevelopmental disorders and international data sharing, 11 patients from 6 independent families with biallelic variants in SLC4A10 were identified.