ADD HD

The etiology of various neurodegenerative disorders that mainly affect the central nervous system including (but not limited to) Alzheimer's disease, Parkinson's disease and Huntington's disease has classically been attributed to neuronal defects that culminate with the loss of specific neuronal populations. However, accumulating evidence suggests that numerous immune effector cells and the products thereof (including cytokines and other soluble mediators) have a major impact on the pathogenesis and/or severity of these and other neurodegenerative syndromes...

Protein misfolding, aggregation, and spread through the brain are primary drivers of neurodegenerative diseases pathogenesis. Phagocytic glia are responsible for regulating the load of pathogenic protein aggregates in the brain, but emerging evidence suggests that glia may also act as vectors for aggregate spread. Accumulation of protein aggregates could compromise the ability of glia to eliminate toxic materials from the brain by disrupting efficient degradation in the phagolysosomal system. A better understanding of phagocytic glial cell deficiencies in the disease state could help to identify novel therapeutic targets for multiple neurological disorders...

To address the problems of under-segmentation and over-segmentation of small organs in medical image segmentation. We present a novel medical image segmentation network model with Depth Separable Gating Transformer and a Three-branch Attention module (DSGA-Net). Firstly, the model adds a Depth Separable Gated Visual Transformer (DSG-ViT) module into its Encoder to enhance (i) the contextual links among global, local, and channels and (ii) the sensitivity to location information. Secondly, a Mixed Three-branch Attention (MTA) module is proposed to increase the number of features in the up-sampling process...

INTRODUCTION: Hansen's disease (HD) is a major public health problem in developing countries. It causes peripheral neuropathy, and if left untreated, it leads to deformities. It is important to diagnose such cases early, and prompt treatment should be given to patients to preserve nerve function. MATERIALS AND METHODS: A total of 40 patients with HD who were already on multi-drug therapy (MDT) or treatment-naive were included in this study. These were clinically diagnosed cases of HD as per the Ridley-Jopling classification, and these patients were subjected to high-resolution ultrasonography (HRUS)...

Repeated single-point measurements of thoracic bioimpedance at a single (low) frequency are strongly related to fluid changes during hemodialysis. Extension to semi-continuous measurements may provide longitudinal details in the time pattern of the bioimpedance signal, and multi-frequency measurements may add in-depth information on the distribution between intra- and extracellular fluid. This study aimed to investigate the feasibility of semi-continuous multi-frequency thoracic bioimpedance measurements by a wearable device in hemodialysis patients...

OBJECTIVE: Niemann-Pick Type C (NPC) is a genetic neurodegenerative lysosomal storage disorder commonly associated with psychiatric symptoms and delays to accurate diagnosis and treatment. This study investigated biomarker levels and diagnostic utility of plasma neurofilament light chain (NfL) and glial fibrillary acidic protein (GFAP) in NPC compared to healthy controls. METHODS: Patients with NPC were recruited from a specialist assessment and management service...

OBJECTIVE: Hyperphosphatemia is a common complication in patients with kidney failure, despite the use of phosphate binders (PBs). Vitamin B3, either in the form of niacin or niacinamide (NAM), shows potential as "add-on" treatment to reduce serum phosphate concentrations in this population. NAM seems to lack many of the side-effects that are observed with niacin. The aim of this study was to investigate whether NAM is an effective and acceptable treatment in reducing serum phosphate concentrations in patients with kidney failure...

BACKGROUND/OBJECTIVES: To determine the relationship between corneal stress-strain index (SSI) and retinal nerve fibre layer (RNFL) thickness. SUBJECTS/METHODS: 1645 healthy university students from a university-based study contributed to the analysis. The RNFL thickness was measured by high-definition optical coherence tomography (HD-OCT), axial length (AL) was measured by IOL Master, and corneal biomechanics including SSI, biomechanical corrected intraocular pressure (bIOP), and central corneal thickness (CCT) were measured by Corvis ST...

UNLABELLED: Protein misfolding, aggregation, and spread through the brain are primary drivers of neurodegenerative diseases pathogenesis. Phagocytic glia are responsible for regulating the load of pathogenic protein aggregates in the brain, but emerging evidence suggests that glia may also act as vectors for aggregate spread. Accumulation of protein aggregates could compromise the ability of glia to eliminate toxic materials from the brain by disrupting efficient degradation in the phagolysosomal system...

An 18-year-old woman presented to the emergency department. She had ingested 43 extended-release tablets of carbamazepine 400 mg. Although the patient had high carbamazepine plasma levels and classified as severe intoxication, her clinical symptoms were less severe than expected. With the combination of hemodialysis and continuous venovenous hemodialysis in addition to usual care, including multiple-dose activated charcoal, a fast decrease (within 3 days) in carbamazepine plasma levels to levels in the therapeutic range was achieved...

Expansions of CAG trinucleotide repeats cause several rare neurodegenerative diseases. The disease-causing repeats are translated in multiple reading frames and without an identifiable initiation codon. The molecular mechanism of this repeat-associated non-AUG (RAN) translation is not known. We find that expanded CAG repeats create new splice acceptor sites. Splicing of proximal donors to the repeats produces unexpected repeat-containing transcripts. Upon splicing, depending on the sequences surrounding the donor, CAG repeats may become embedded in AUG-initiated open reading frames...

IMPORTANCE: Childhood cancer survivors (CCS) are at risk for late effects of different organ systems. The currently available screening recommendations for those treated with high-dose methotrexate (HD-MTX) are not uniform and the available literature is limited. OBJECTIVE: We aim to assess the prevalence and severity of late effects in CCS treated with HD-MTX at a single centre in Switzerland. We focus on organ systems defined at risk by the long-term follow-up care guidelines of the children's oncology group (COG), because this guideline has a holistic approach, is evidence based, and up to date...

Background and Objectives: Omega-3 fatty acids have potent lipid-lowering and antiplatelet effects; however, randomized controlled trials have yet to examine the effect of high-dose omega-3 fatty acid administration on peripheral artery disease (PAD) in hemodialysis patients with dyslipidemia. Therefore, this study aimed to evaluate the effects of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) on the ankle-brachial index (ABI) and remnant-like lipoprotein cholesterol (RLP-C) levels, which are indicators of PAD severity...

As the kynurenine pathway's links to inflammation, the immune system, and neurological disorders became more apparent, it attracted more and more attention. It is the main pathway through which the liver breaks down Tryptophan and the initial step in the creation of nicotinamide adenine dinucleotide (NAD+) in mammals. Immune system activation and the buildup of potentially neurotoxic substances can result from the dysregulation or overactivation of this pathway. Therefore, it is not shocking that kynurenines have been linked to neurological conditions (Depression, Parkinson's, Alzheimer's, Huntington's Disease, Schizophrenia, and cognitive deficits) in relation to inflammation...

People treated with peritoneal dialysis (PD) often have complicating conditions that require careful management. Three such conditions are reviewed in this article-diabetes mellitus, polycystic kidney disease, and chronic liver disease. Each of these conditions requires an understanding of both its effect on the delivery of the PD and the effect of the PD on the condition itself. In diabetes, glucose absorption from the dialysate complicates metabolic control and affects salt and water management and patient outcome...

BACKGROUND: Hemodialysis is a life-saving technology used during periods of acute or chronic kidney failure to remove toxins, and maintain fluid, electrolyte and metabolic balance. While this technology plays an important role for pediatric patients with kidney dysfunction, it can alter the pharmacokinetic behavior of medications placing patients at risk for suboptimal dosing and drug toxicity. The ability to directly translate pharmacokinetic alterations into dosing recommendations has thus far been limited and dosing guidance specific to pediatric hemodialysis patients is rare...

Cerebral air embolism (CAE) occurs in various clinical situations such as surgery, angiography, and hemodialysis; most are iatrogenic. Here we report the case of a 57-year-old man who developed CAE immediately after air-powder abrasive treatment, which is commonly used in dentistry. The patient underwent air-powder abrasive treatment for peri-implantitis, and immediately after the treatment, cardiac arrest occurred and cardio- pulmonary resuscitation was performed. After resuscitation, brain computed tomography performed in the emergency room showed scattered dark density presumed to be air...

INTRODUCTION: Whether dye spray chromoendoscopy (DCE) adds value in surveillance colonoscopy with high-definition (HD) scopes remains controversial. This updated meta-analysis compares dysplasia detection using DCE and high-definition white light endoscopy (HD-WLE) in patients with inflammatory bowel disease (IBD) undergoing surveillance colonoscopy. METHODS: A comprehensive search was performed for randomized controlled trials (RCT) comparing HD-WLE and DCE in patients with IBD...

Dopamine regulates several functions, such as voluntary movements, spatial memory, motivation, sleep, arousal, feeding, immune function, maternal behaviors, and lactation. Less clear is the role of dopamine in the pathophysiology of type 2 diabetes mellitus (T2D) and chronic complications and conditions frequently associated with it. This review summarizes recent evidence on the role of dopamine in regulating insular metabolism and activity, the pathophysiology of traditional chronic complications associated with T2D, the pathophysiological interconnection between T2D and chronic neurological and psychiatric disorders characterized by impaired dopamine activity/metabolism, and therapeutic implications...

PURPOSE/OBJECTIVES: Huntington's disease (HD) requires high-quality care to reduce disruption of the patient system, prevent crisis situations, and prevent early admission in a nursing home. In the Netherlands, case management has been available for the last to 9 years for people with HD. However, there is a notable gap in understanding experiences and beliefs of HD patients regarding case managers' care, guidance, and support for quality of life. To improve the international quality of care for people with HD, insight in experiences of ambulatory HD patients with the care, guidance, and support received from a case manager HD (CMHD) is crucial...