C21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.

Progressive loss of motor neurons is the hallmark of the neurodegenerative disease amyotrophic lateral sclerosis (ALS), but the underlying disease mechanisms remain incompletely understood. In this study, we investigate the effects of C21ORF2 mutations, a gene recently linked to ALS, and find that primary cilia are dysfunctional. Human patient-derived mutant C21ORF2 motor neurons have a reduced ciliary frequency and length.

Optical coherence tomography in secondary progressive multiple sclerosis: cross-sectional and longitudinal exploratory analysis from the MS-SMART randomised controlled trial.

Background: Optical coherence tomography (OCT) inner retinal metrics reflect neurodegeneration in multiple sclerosis (MS). We explored OCT measures as biomarkers of disease severity in secondary progressive MS (SPMS).

Methods: We investigated people with SPMS from the Multiple Sclerosis-Secondary Progressive Multi-Arm Randomisation Trial OCT substudy, analysing brain MRIs, clinical assessments and OCT at baseline and 96 weeks.

Appraisal of current surgical guidelines for inflammatory bowel disease using the AGREE-S instrument: A scoping review.

Aim: Guidelines play a crucial role in improving patient care by providing clinicians with up to date evidence-based recommendations. A vast number of guidelines exist on the surgical management of inflammatory bowel disease (IBD). The aim of this scoping review was to identify current surgical IBD guidelines, assess their quality and identify areas of variation between the existing guidelines.

Extraneural Soft Tissue Perineurioma: A Report of a Rare Case of Peripheral Nerve Sheath Tumor.

Extraneural perineuriomas are rare, benign soft tissue tumors arising from perineurial cells, which form the protective lining of peripheral nerves. These tumors are infrequently encountered in the foot, posing diagnostic challenges due to their rarity and non-specific clinical presentation. Here, we describe the case of a 45-year-old woman, who had a swelling over the right foot dorsum for four years for which an excision biopsy was done.

Cervical Suprahyoid Bronchogenic Cyst - a Very Rare Malformation of Primitive Foregut.

A cervical bronchogenic cyst is a rare embryological anomaly of the primitive foregut, with an exceptionally uncommon occurrence in a suprahyoid location attached to the parotid tail. We report a case of an asymptomatic neck mass initially diagnosed as either a branchial cleft cyst or lymphangioma based on clinic-radiological investigation, which was subsequently confirmed as an ectopic bronchogenic cyst through histopathological examination.

Donor-specific immune senescence as a candidate biomarker of operational tolerance following liver transplantation in adults: Results of a prospective, multicenter cohort study.

Immunosuppression can be withdrawn from selected liver transplant recipients, although robust clinical predictors of tolerance remain elusive. The Immune Tolerance Network ITN056ST study (OPTIMAL; NCT02533180) assessed clinical outcomes and mechanistic correlates of phased immunosuppression withdrawal (ISW) in nonautoimmune, nonviral adult liver transplant recipients. Enrolled subjects were ≥3 years posttransplant with minimal/absent inflammation or fibrosis on a screening liver biopsy.

Comparative analysis of INTERGROWTH-21st and Fenton growth charts for birthweight classification in a multiethnic Asian cohort: a cross-sectional study.

Objective: The objective of this study is to evaluate the impact of using International Fetal and Newborn Growth Consortium for the 21st Century (INTERGROWTH-21st) (IG-21) growth standards compared with Fenton growth charts on birthweight classification in a multiethnic newborn cohort in Singapore.

Design: Cross-sectional study.

Setting: KK Women's and Children's Hospital, Singapore.

Violet light transmission through eyeglasses and its effects on myopic children: A systematic review and meta-analysis.

Purpose: Myopia is a refractive error that impairs visual function and leads to visual blurring. This study aims to investigate the effect of violet light (VL) on controlling myopia, specifically in terms of axial length (AL), spherical equivalent refraction (SER), and visual acuity (VA).

Methods: A systematic review was conducted to compare VL and single-vision spectacles (SVSs) for treating childhood myopia.

Efficacy and Tolerability of Erenumab and Topiramate for Prevention of Chronic Migraine: A Retrospective Cohort Study.

Migraine is a chronic neurological disorder affecting approximately 14% of the global population. Beyond physical pain, migraines significantly impact individuals' quality of life, influencing education, employment, and income levels. Topiramate, a second-generation antiepileptic medication, has demonstrated notable efficacy in reducing the occurrence of chronic migraine.

Congenital saccular cyst of the larynx: a rare cause of stridor in a newborn infant.

Congenital saccular cyst of the larynx is a rare cause of presentation of stridor and respiratory distress in newborns. The clinical presentation of a saccular laryngeal cyst often overlaps with other common causes of stridor, such as laryngomalacia, presenting a diagnostic dilemma for clinicians. We present a case of a term newborn infant referred for evaluation of inspiratory stridor since birth.

Antiplasma cell antibodies: A new era of human leukocyte antigen antibody control in solid organ transplantation.

New therapies directed against plasma cells such as anti-CD38 antibodies and the bispecific anti-B cell maturation antigen antibodies, represent not only an important advance in the treatment of multiple myeloma but have the potential to change the treatment landscape of other antibody-mediated diseases. In solid organ transplantation, the therapeutic armamentarium targeting humoral alloimmune responses in desensitization of highly sensitized transplant candidates and posttransplant antibody-mediated rejection has lagged behind advances in preventing and treating T cell-mediated rejection. Intravenous immunoglobulin and plasmapheresis are used extensively but have limited efficacy.

Thyroglossal Duct Cyst Carcinoma: Our 12-year Experience in a Tertiary Care Centre.

Malignant transformation in thyroglossal duct cyst is an extremely rare occurrence, papillary carcinoma being the most common type of malignancy. In this study, we present our 12-years experience on this rare pathology. Records of all the patients with thyroglossal duct cyst and thyroid malignancies who were managed between January 2011 and December 2022 were reviewed retrospectively.

Neonatal Sepsis: Aetiology, Pathophysiology, Diagnostic Advances and Management Strategies.

Neonatal sepsis, a bloodstream infection in the first 28 days of life, is a leading cause of morbidity and mortality among infants in both developing and developed countries. Additionally, sepsis is distinguished in neonates by unique pathophysiological and presentational factors relating to its development in immature neonatal immune systems. This review focuses on the current understanding of the mechanics and implications of neonatal sepsis, providing a comprehensive overview of the epidemiology, aetiology, pathophysiology, major risk factors, signs and symptoms and recent consensus on the diagnosis and management of both early-onset and late-onset neonatal sepsis.

Plekhg5 controls the unconventional secretion of Sod1 by presynaptic secretory autophagy.

Increasing evidence suggests an essential function for autophagy in unconventional protein secretion (UPS). However, despite its relevance for the secretion of aggregate-prone proteins, the mechanisms of secretory autophagy in neurons have remained elusive. Here we show that the lower motoneuron disease-associated guanine exchange factor Plekhg5 drives the UPS of Sod1.

Procedure-related readmissions following endoscopic retrograde cholangiopancreatography in a liver transplant cohort.

Background And Aim: Data on post-endoscopic retrograde cholangiopancreatography (ERCP) adverse events and readmission rates in liver transplantation (LT) patients remain scarce. This study determined the 30-day procedure-related readmission rate following ERCP in an LT cohort at an Australian tertiary academic center.

Methods: All unplanned readmissions within 30 days following ERCP in orthotopic LT patients between December 2012 and August 2021 were retrospectively identified.

Influences of Specialist Palliative Care Team Input, Advance Care Planning, Non-Invasive Ventilation and Gastrostomy Status on Unscheduled Hospital Admissions and Place of Death for People with Motor Neuron Disease: A Retrospective Cohort Analysis.

Motor neuron disease is a rapidly progressing neurological condition. People with life-limiting conditions generally prefer to die at home and avoid hospital admissions, with Specialist Palliative Care Team involvement often pivotal. Our aim was to investigate the role of advance care planning, Specialist Palliative Care Team input and other relevant variables on place of death and unscheduled hospital admissions in a Scottish population of people with motor neuron disease.