Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study.

Background: Real-world data on gene addition therapy (GAT) with onasemnogene abeparvovec (OA), including all age groups and with or without symptoms of the disease before treatment are needed to provide families with evidence-based advice and realistic therapeutic goals. Aim of this study is therefore a population-based analysis of all patients with SMA treated with OA across Germany, Austria and Switzerland (D-A-CH).

Methods: This observational study included individuals with Spinal Muscular Atrophy (SMA) treated with OA in 29 specialized neuromuscular centers in the D-A-CH-region.

Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.

Introduction: Xia-Gibbs syndrome (XGS) is a rare syndromic disorder characterized by developmental delay with intellectual disability, muscular hypotonia, brain anomalies, and nonspecific dysmorphic features. Different heterozygous variants in have been reported as causal for XGS, comprising mainly stop-gain and frameshift events, but also missense variants, deletions, and a duplication of the locus.

Case Presentation: We hereby report 2 patients with clinical features of XGS.

Long-term Outcomes of Combined Phacotrabeculectomy Surgery in a Singapore Tertiary Hospital.

Purpose: To describe the long-term outcomes of phacotrabeculectomy from a tertiary glaucoma service in Singapore.

Design: Retrospective case series.

Methods: Seven hundred ninety-six eyes of 698 patients who underwent phacotrabeculectomy surgery at the Singapore National Eye Centre between 2005 and 2007 with a minimum follow-up of three years were included.

Anatomical compensation of retinal nerve fiber layer improves the detection of glaucoma between ethnicities.

The study aimed to evaluate the impact of compensating retinal nerve fiber layer (RNFL) thickness for demographic and anatomical factors on glaucoma detection in Chinese and Indian adults. A population-based study included 1995 healthy participants (1076 Chinese and 919 Indians) to construct a multivariable linear regression compensation model. This model was applied to 357 Chinese glaucoma patients, 357 healthy Chinese, and 357 healthy Indians using Cirrus spectral-domain optical coherence tomography (OCT).

Evaluation of Interdental Papilla Regeneration Using Injectable Hyaluronic Acid: A Clinical Study.

Aim: This study aimed to assess the efficacy of hyaluronic acid (HA) gel injections in deficient papillae and record the effects for four weeks.

Materials And Methods: Fifteen deficient class 1 papilla sites according to Nordland and Tarnow classification were included. After scaling and root planing, 0.

Ribbing disease of the femur: a rare entity.

Ribbing disease is a rare benign bone dysplasia characterized by progressive cortical thickening of the diaphyses of long bones in adult patients. The literature provides limited insight into its natural radiological progression and anatomical distribution. Single-bone involvement is particularly uncommon, with prior cases exclusively affecting the tibia.

Enhancing the structure-function relationship in glaucoma using anatomical compensation of retinal nerve fibre layer.

Background/aims: To investigate whether compensating retinal nerve fibre layer (RNFL) thickness measurements for demographic and anatomical ocular factors can strengthen the structure-function relationship in patients with glaucoma.

Methods: 600 eyes from 412 patients with glaucoma (mean deviation of the visual field (MD VF) -6.53±5.

Rice crop residue management by the microbial consortium for rapid decomposition of straw.

Unlabelled: Globally, more than 5 billion tons of crop residue (mainly rice straw) are produced yearly, and their management results in pollution, which kills microbes and limits soil nutrient recycling. Therefore, on-farm management that boosts degradation speed will improve the practicability of crop residue retention practices. The present study evaluated the 21 microbial isolates (, and ) from the soil of different agroclimatic zones obtained from rice fields for in situ straw degradation.

Replacing the postoperative week 1 visit after routine phacoemulsification with a telephone consult.

Objective: To assess the safety of replacing the postoperative week 1 (POW1) clinic visit with a nurse-conducted telephone call.

Design: Retrospective observational study that included cases from January 2019 to June 2021.

Participants: Patients who had undergone uncomplicated phacoemulsification surgery with an unremarkable postoperative day 1 (POD1) examination.

Tuberculous Septic Arthritis of the Hip Following the Incision and Drainage of a Groin Abscess: A Case Report.

Tuberculosis of the hip is a relatively rare type of septic arthritis that is seldom seen in the developed world today. While pyogenic septic arthritis may present with clear features that help in early diagnosis and treatment, many of these features are absent or overlap significantly with tuberculous arthritis, making the diagnosis a clinical challenge. Here, we present a case of tuberculous septic arthritis seen in our clinic following the surgical incision and drainage of a groin abscess with minimal hip symptoms.

Adherence to antihypertensives in the United States: A comparative meta-analysis of 23 million patients.

Adherence to antihypertensives is crucial for control of blood pressure. This study analyzed factors and interventions that could affect adherence to antihypertensives in the US. PubMed, Scopus, Web of Science, and Embase were searched on January 21, 2022 and December 25, 2023 for studies on the adherence to antihypertensives in the US.

Bizarre Parosteal Osteochondromatous Proliferation (Nora's Lesion) Of the Second Proximal Phalanx Encasing the Flexor Tendon of the Foot: A Case Report.

Introduction: Bizarre Parosteal Osteochondromatous Proliferation (BPOP) is a rare benign lesion commonly referred to as Nora's lesion. It typically affects adults in their 20s-30s. Due to its aggressive local invasion, it can be confused with some malignant tumors, including chondrosarcoma.

Efficiency, Precision, Validity, and Reliability of GlauCAT-Asian Computerized Adaptive Tests in Measuring Glaucoma-Related Quality of Life.

Purpose: To determine the efficiency, precision, and agreement of GlauCAT-Asian and its corresponding validity and reliability.

Methods: In this cross-sectional study, 219 participants (mean ± standard deviation age, 66.59 ± 8.

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Objective: This study aims to elucidate the long-term benefit of newborn screening (NBS) for individuals with long-chain 3-hydroxy-acyl-CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited metabolic diseases included in NBS programs worldwide.

Methods: German national multicenter study of individuals with confirmed LCHAD/MTP deficiency identified by NBS between 1999 and 2020 or selective metabolic screening. Analyses focused on NBS results, confirmatory diagnostics, and long-term clinical outcomes.

A Retrospective Study of the Epidemiology, Histomorphological Features, Hormonal Status, and Radiological Features of Breast Cancer Diagnosed on Biopsies in Women in Bahrain Up to the Age of 40: A Single-Center Study.

Background: Breast cancer is the most commonly diagnosed cancer in women worldwide. There are many risk factors that contribute to breast cancer which involve modifiable and non-modifiable factors. Most of the patients diagnosed with breast cancer are over 50 years of age, with breast cancer in women less than 40 years of age being relatively rare and typically more aggressive variants.

Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.

Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities and progressive basal ganglia deposits were present.

The Role of Revision Total Joint Arthroplasty for Periprosthetic Fractures With Unstable Implants.

The management of periprosthetic fractures with unstable prosthetic implants is a challenging and commonly encountered problem. It is important to address the many current issues and controversies regarding the treatment of periprosthetic fractures with revision total joint arthroplasty. Key strategies to optimize surgical decision making around the use of arthroplasty and management of complications following these complex injuries will be addressed.

Segregation of neuronal and vascular retinal damage in patients with hypertension and diabetes.

This study aimed to examine the impact of diabetes and hypertension on retinal nerve fiber layer (RNFL) thickness components. Optical coherence tomography (OCT) measurements do not consider blood vessel contribution, which this study addressed. We hypothesized that diabetes and/or hypertension would lead to thinner RNFL versus controls due to the vascular component.

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.

Background: Enzyme replacement therapy (ERT) with recombinant human alglucosidase alfa (rhGAA) was approved in Europe in 2006. Nevertheless, data on the long-term outcome of infantile onset Pompe disease (IOPD) patients at school age is still limited.

Objective: We analyzed in detail cardiac, respiratory, motor, and cognitive function of 15 German-speaking patients aged 7 and older who started ERT at a median age of 5 months.

Remote Perimetry in a Virtual Reality Metaverse Environment for Out-of-Hospital Functional Eye Screening Compared Against the Gold Standard Humphrey Visual Fields Perimeter: Proof-of-Concept Pilot Study.

Background: The growing global burden of visual impairment necessitates better population eye screening for early detection of eye diseases. However, accessibility to testing is often limited and centralized at in-hospital settings. Furthermore, many eye screening programs were disrupted by the COVID-19 pandemic, presenting an urgent need for out-of-hospital solutions.