Massive Bilateral Haemorrhagic Prepatellar Bursitis: A Case Report.

Prepatellar bursitis is a common cause of anterior knee pain. We present an unusual case of massive bilateral traumatic haemorrhagic prepatellar bursitis managed with surgical excision and describe our operative findings. The patient presented with large bilateral knee swellings which had been present for six years following a fall onto both knees.

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

Primary Central Nervous System Lymphoma Tumor Biopsies Show Heterogeneity in Gene Expression Profiles, Genetic Subtypes, and in vitro Drug Sensitivity to Kinase Inhibitors.

Primary central nervous system lymphoma (PCNSL) is clinically challenging due to its location and small biopsy size, leading to a lack of comprehensive molecular and biologic description. We previously demonstrated that 91% of PCNSL belong to the activated B-cell-like (ABC) molecular subtype of diffuse large B-cell lymphoma (DLBCL). Here we investigated the expression of 739 cancer related genes in HIV (-) patients using NanoString digital gene expression profiling in 25 ABC-PCNSL and 43 ABC-systemic DLBCL, all tumors were EBV (-).

Clinical and biochemical abnormalities in a feline model of GM2 activator deficiency.

Though it has no catalytic activity toward GM2 ganglioside, the GM2 activator protein (GM2A) is essential for ganglioside hydrolysis by facilitating the action of lysosomal ß-N-acetylhexosaminidase. GM2A deficiency results in death in early childhood due to rapid central nervous system deterioration similar to the related GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease. This manuscript further characterizes a feline model of GM2A deficiency with a focus on clinical and biochemical parameters that may be useful as benchmarks for translational therapeutic research.

Intravenous gene therapy improves lifespan and clinical outcomes in feline Sandhoff Disease.

Sandhoff Disease (SD), a fatal neurodegenerative disorder, is caused by the absence of ß-hexosaminidase (Hex) and subsequent accumulation of GM2 ganglioside in lysosomes. Previous studies have led to adeno-associated virus (AAV) gene therapy for children with GM2 gangliosidosis in both expanded access and Phase I/II clinical trials via intracranial and/or cerebrospinal fluid-based delivery. The current study investigated intravenous (IV) gene therapy of SD cats, treated at one month of age with a bicistronic AAV vector.

Contributions of digital technologies for resilience capacity in a type 1 diabetes transition clinic: A qualitative study.

A type 1 diabetes (T1D) transition clinic in Sydney, Australia, provides age specific care for young adults (aged 16-25 years) and for adults (aged 21 years and above), and has reported improved clinical outcomes post transition to adult care over a 21-year period. This study investigated the contribution of digital technology to long-term resilient capacity of the clinic. Clinic observations and interviews with eight providers and 17 young adults were conducted.

Regulation of Kv1.2 Redox-Sensitive Gating by the Transmembrane Lectin LMAN2.

Voltage gated potassium (Kv)1.2 channels influence excitability and action potential propagation in the nervous system. Unlike closely related Kv1 channels, Kv1.

Seasonal timing of fluorescence and photosynthetic yields at needle and canopy scales in evergreen needleleaf forests.

The seasonal timing and magnitude of photosynthesis in evergreen needleleaf forests (ENFs) has major implications for the carbon cycle and is increasingly sensitive to changing climate. Earlier spring photosynthesis can increase carbon uptake over the growing season or cause early water reserve depletion that leads to premature cessation and increased carbon loss. Determining the start and the end of the growing season in ENFs is challenging due to a lack of field measurements and difficulty in interpreting satellite data, which are impacted by snow and cloud cover, and the pervasive "greenness" of these systems.

Outcomes of growth hormone treatment in children with Prader-Willi syndrome over a 30-year period: a single tertiary center experience.

Objectives: Clinical benefits of growth hormone (GH) in Prader-Willi syndrome (PWS) are proven and scoliosis is a known association of both PWS and GH therapy. The aims of this study were to assess GH prescribing practices and growth outcomes over time, the prevalence and predictors of scoliosis in GH-treated PWS children, and the near-final height of GH-treated PWS patients.

Design And Methods: This is a retrospective, descriptive study evaluating data from all clinic visits of patients aged 0-18 years with PWS, seen through the Children's Hospital at Westmead between March 1992 and May 2022 (n=75).

Preclinical evaluation of stereopure antisense oligonucleotides for allele-selective lowering of mutant .

Huntington's disease (HD) is an autosomal dominant disease caused by the expansion of cytosine-adenine-guanine (CAG) repeats in one copy of the gene (mutant HTT, mHTT). The unaffected gene encodes wild-type HTT (wtHTT) protein, which supports processes important for the health and function of the central nervous system. Selective lowering of mHTT for the treatment of HD may provide a benefit over nonselective HTT-lowering approaches, as it aims to preserve the beneficial activities of wtHTT.

Clinical Informed Consent and ABA.

Unlabelled: The practice of clinical informed consent in America is governed by over 100 years of case law. Although predominant ethics resources for behavior analysts offer some guidance regarding the provision of clinical informed consent, such guidance remains limited. The goal of this article is thus to expand the contemporary literature on clinical informed consent in behavior analysis by providing a historical and contemporary guide to relevant case law.

Detailed phenotype and long-term follow-up of associated cone-rod dystrophy.

Purpose: To gain an insight into the pathophysiology of associated inherited retinal degeneration through detailed phenotyping and long-term longitudinal follow-up.

Methods: The patient underwent complete ophthalmic examinations. Visual function was assessed with microperimetry, full-field electroretinography (ffERG), imaging with optical coherence tomography (OCT), short-wave (SW), and near-infrared (NIR) fundus autofluorescence (FAF).

Selective Thermal Deprotection of -Boc Protected Amines in Continuous Flow.

Thermal -Boc deprotection of a range of amines is readily effected in continuous flow, in the absence of an acid catalyst. While the optimum results were obtained in methanol or trifluoroethanol, deprotection can be effected in a range of solvents of different polarities. Sequential selective deprotection of -Boc groups has been demonstrated through temperature control, as exemplified by effective removal of an aryl -Boc group in the presence of an alkyl -Boc group.

Bilateral Choroidal Detachments following Novel CAR T-Cell Immunotherapy Regimen.

Purpose: To describe a vision-threatening adverse event of a novel CAR T-cell immunotherapy for metastatic prostate cancer.

Methods: Observational Case Report.

Patient: 77-year-old male with history of metastatic prostate cancer and pulmonary embolism enrolled in a clinical trial investigating the use of CAR T-cell immunotherapy for treatment of metastatic prostate cancer presented with a subjective left temporal visual disturbance.

Susceptibility of the Different Oxygen-Sensing Probes to Interferences in Respirometric Bacterial Assays with Complex Media.

Respirometric microbial assays are gaining popularity, but their uptake is limited by the availability of optimal O sensing materials and the challenge of validating assays with complex real samples. We conducted a comparative evaluation of four different O-sensing probes based on Pt-porphyrin phosphors in respirometric bacterial assays performed on standard time-resolved fluorescence reader. The macromolecular MitoXpress, nanoparticle NanO2 and small molecule PtGlc and PtPEG probes were assessed with cells in five growth media: nutrient broth (NB), McConkey (MC), Rapid Coliform ChromoSelect (RCC), M-Lauryl lauryl sulfate (MLS), and Minerals-Modified Glutamate (MMG) media.

COVID-19 Vaccination Telephone Outreach: A Primary Care Clinic Intervention Targeting Health Equity.

Introduction: Equitable COVID-19 vaccine access is essential to ending the COVID-19 pandemic. In many instances, COVID-19 vaccination notification and scheduling occurred through online patient portals, for which socially vulnerable populations have limited access. Our objective was to reduce disparities in COVID-19 vaccine access for the Black and socially vulnerable populations unintentionally excluded by our health system's patient portal-driven vaccine outreach through a telephone outreach initiative.

ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function.

Heterozygous deletions in the ANKS1B gene cause ANKS1B neurodevelopmental syndrome (ANDS), a rare genetic disease characterized by autism spectrum disorder (ASD), attention deficit/hyperactivity disorder, and speech and motor deficits. The ANKS1B gene encodes for AIDA-1, a protein that is enriched at neuronal synapses and regulates synaptic plasticity. Here we report an unexpected role for oligodendroglial deficits in ANDS pathophysiology.

Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy.

Objective: GM2 gangliosidosis is usually fatal by 5 years of age in its 2 major subtypes, Tay-Sachs and Sandhoff disease. First reported in 1881, GM2 gangliosidosis has no effective treatment today, and children succumb to the disease after a protracted neurodegenerative course and semi-vegetative state. This study seeks to further develop adeno-associated virus (AAV) gene therapy for human translation.