Am J Nucl Med Mol Imaging
December 2024
This review assesses the primary neuroimaging techniques used to evaluate Parkinson's disease (PD) - a neurological condition characterized by gradual dopamine-producing nerve cell degeneration. The neuroimaging techniques explored include positron emission tomography (PET), single-photon emission computed tomography (SPECT), and magnetic resonance imaging (MRI). These modalities offer varying degrees of insights into PD pathophysiology, diagnostic accuracy, specificity by way of exclusion of other Parkinsonian syndromes, and monitoring of disease progression.
View Article and Find Full Text PDF46,XY sex reversal 11 (SRXY11) is a rare and recently identified form of 46,XY difference in sexual development (DSD), caused by variants in the DEAH-Box Helicase 37 gene (). is crucial for ribosome biogenesis, but its specific role in gonadal development remains unclear. The genital phenotype varies widely, ranging from typical female to typical male.
View Article and Find Full Text PDFUnlabelled: Neuronal hyperexcitability is a hallmark of amyotrophic lateral sclerosis (ALS) but its relationship with the TDP-43 aggregates that comprise the predominant pathology in over 90% of ALS cases remains unclear. Emerging evidence in tissue and slice culture models indicate that TDP-43 pathology induces neuronal hyperexcitability suggesting it may be responsible for the excitotoxicity long believed to be a major driver of ALS neuron death. Here, we characterized hyperexcitability and neurodegeneration in the hippocampus of doxycycline-regulatable rNLS8 mice (NEFH-tTA x tetO-hTDP-43ΔNLS), followed by treatment with AAV encoded DREADDs and anti-seizure medications to measure the effect on behavioral function and neurodegeneration.
View Article and Find Full Text PDFIntroduction: Growth hormone (GH) and the immune system have multiple bidirectional interactions. Data about the acute effects of GH on the immune system are lacking. The objective of our study was to evaluate the acute effects of GH on the immune system using time-of-flight mass cytometry.
View Article and Find Full Text PDFOligodendrogliomas are rare brain tumors arising from oligodendrocytes; there is a limited understanding of their pathogenesis, which leads to challenges in diagnosis, prognosis, and treatment. This study aimed to conduct a comprehensive bibliometric analysis of the oligodendroglioma literature to assess the current state of research, identify research trends, and elucidate implications for future research. The Lens database was used to retrieve journal articles related to "oligodendroglioma" without geographic or temporal restrictions.
View Article and Find Full Text PDFParkinson's disease (PD) causes unique motor and non-motor symptoms. Despite symptomatic treatment with pharmacotherapies, many persons with PD report feelings of loneliness and demoralization as their disease progresses. These symptoms greatly interfere with quality of life, necessitating novel treatment strategies.
View Article and Find Full Text PDFRegul Toxicol Pharmacol
September 2023
Traditional animal models are increasingly being replaced by new approach methodologies (NAMs) which focus on predicting toxicity of chemicals based on mechanistic data rather than apical endpoint data usually obtained from animal models. Beyond in vitro genetic tests, however, only a handful of NAMs have been successfully implemented in regulatory decision-making processes, mostly in the cosmetics and chemicals sector. Regulatory guidance on food safety testing in many jurisdictions still relies on data obtained from animal studies.
View Article and Find Full Text PDFThe development of alternative methods to animal testing has gained great momentum since Russel and Burch introduced the "3Rs" concept of Reduction, Refinement, and Replacement of animals in safety testing in 1959. Several alternatives to animal testing have since been introduced, including but not limited to in vitro and in chemico test systems, in silico models, and computational models (e.g.
View Article and Find Full Text PDFNeurosurg Focus Video
April 2023
Curr Opin Endocrinol Diabetes Obes
February 2023
Purpose Of Review: The present review summarizes recent advances in the diagnosis and management of patients with X-linked adrenoleukodystrophy (ALD).
Recent Findings: Although ALD screening has been on the list of Recommended Uniform Screening Panel since 2016, only 30 states in the United States are currently testing their newborns for this disease. Hematopoietic stem cell transplant (HSCT) remains the only successful treatment option available for early cerebral ALD but does not reverse neurological changes or affect the course of adrenal insufficiency.
We question certain aspects of the recent Centers for Disease Control and Prevention (CDC) Morbidity and Mortality Weekly Report (January 2022) showing a significant increase in the incidence of diabetes in children after COVID‐19 infection. We are concerned at the source of data being limited to commercial health insurances and lack of factoring race, ethnicity, social determinants of health, body mass index, type of diabetes, and viral variants in the interpretation of these data.
View Article and Find Full Text PDFBackground The use of complementary and alternative medicine, particularly yoga is increasing in non-communicable diseases (NCDs). We assessed the overall awareness regarding yoga among patients and their opinion about it as an adjunct therapy for NCDs. Methods We included 384 patients attending the cardiology and neurology clinics at a tertiary care centre in northern India.
View Article and Find Full Text PDFIn the current era of echocardiography, early diagnosis and treatment of rheumatic heart disease make giant left atrium a rare condition, with a reported incidence of 0.3%, and following mainly with rheumatic mitral valve disease. We report a 50-year-old female, a known case of rheumatic heart disease who presented with breathlessness and dysphagia, and the cardiothoracic ratio on chest roentgenogram was 0.
View Article and Find Full Text PDFObjective: No study among Indian population has proposed modification of existing cardiovascular disease (CVD) risk scores or novel risk scores as risk estimation using conventional risk calculators can't be generalized because of epidemiological differences.
Material And Methods: A single center observational study was performed at a tertiary care center among participants having no evidence of CVD. Prevalence of various cardiac risk factors were analysed and 10-year risk was estimated using Framingham risk score (FRS), Q risk 2 score calculator (QRISK2) and Modified Q risk 2 (mQRISK2) which included smokeless tobacco consumption.
Background: The spectrum of disorders associated with hyperinsulinemic hypoglycemia (HHI) has vastly increased over the past 20 years with identification of molecular, metabolic and cellular pathways involved in the regulation of insulin secretion and its actions. Hereditary tyrosinemia (HT1) is a rare metabolic disorder associated with accumulation of toxic metabolites of the tyrosine pathway due to a genetically mediated enzyme defect of fumarylacetoacetate hydrolase. Transient tyrosinemia of the newborn (TTN) is a benign condition with a maturational defect of the enzymes associated with tyrosine metabolism without any genetic abnormalities.
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