The Effect of Nutritional Supplement Program on the Malnutrition and Biochemical Indicators of Patients Undergoing Hemodialysis

Background: Protein-energy malnutrition is an important problem for hemodialysis patients due to decreased quality of life, increased hospitalization, and mortality. The present study aimed to investigate the effect of nutritional supplement programs on the malnutrition and biochemical indicators of patients undergoing hemodialysis.Methods: In this Randomized Controlled Trial study, 66 patients undergoing hemodialysis were allocated to three groups according to the random allocation methods. Groups A and B received nutritional supplements IsoWhey protein powder (one cup or 24 grams’ powder) and BCAA Muscle Guard Tablet (6 tablets per day: 2 tablets every 8 hours), respectively, along with a schedule of nutrition counseling, nephrology visits, and telephone follow-up for two months. The control group (group C) received a routine diet without supplementation. Biochemical indicators (Hemoglobin, BUN before and after dialysis, creatinine, cholesterol, triglyceride, TIBC, total protein, albumin, ferritin) were measured for all three groups before, one and two months after the intervention, and nutritional status based on SGA was assessed before and after the intervention.Results: Before the intervention, three groups were homogeneous in demographic variables, biochemical indicators, and nutritional status (P>0.05). But, after the intervention, there was a statistically significant difference between groups in means of TIBC, total protein, and albumin (P<0.05). Also, nutritional status significantly differed in groups after intervention (P=0.02). The two intervention groups achieved a better nutritional status after two months of taking the dietary supplement (P=0.008). But in the control group, there was no significant difference in nutritional status before and after the study (P<0.05).Conclusion: According to the results of this study, it could be suggested that the use of nutritional supplements under the supervision of a nutritionist, along with patient education and consistent nutritional assessment, is suggested to improve the nutritional status of patients undergoing hemodialysis

Polygenic Parkinson's Disease Genetic Risk Score as Risk Modifier of Parkinsonism in Gaucher Disease

Background: Biallelic pathogenic variants in GBA1 are the cause of Gaucher disease (GD) type 1 (GD1), a lysosomal storage disorder resulting from deficient glucocerebrosidase. Heterozygous GBA1 variants are also a common genetic risk factor for Parkinson's disease (PD). GD manifests with considerable clinical heterogeneity and is also associated with an increased risk for PD. Objective: The objective of this study was to investigate the contribution of PD risk variants to risk for PD in patients with GD1. Methods: We studied 225 patients with GD1, including 199 without PD and 26 with PD. All cases were genotyped, and the genetic data were imputed using common pipelines. Results: On average, patients with GD1 with PD have a significantly higher PD genetic risk score than those without PD (P = 0.021). Conclusions: Our results indicate that variants included in the PD genetic risk score were more frequent in patients with GD1 who developed PD, suggesting that common risk variants may affect underlying biological pathways. © 2023 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1. Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. Mutations in GBA1 are also a common genetic risk factor for Parkinson disease and related synucleinopathies. In recent years, research on the pathophysiology of Gaucher disease, the molecular link between Gaucher and Parkinson disease, and novel therapeutics, have accelerated the need for relevant cell models with GBA1 mutations. Although induced pluripotent stem cells, primary rodent neurons, and transfected neuroblastoma cell lines have been used to study the effect of glucocerebrosidase deficiency on neuronal function, these models have limitations because of challenges in culturing and propagating the cells, low yield, and the introduction of exogenous mutant GBA1. To address some of these difficulties, we established a high yield, easy-to-culture mouse neuronal cell model with nearly complete glucocerebrosidase deficiency representative of Gaucher disease. We successfully immortalized cortical neurons from embryonic null allele gba(-/-) mice and the control littermate (gba(+/+)) by infecting differentiated primary cortical neurons in culture with an EF1 alpha-SV40T lentivirus. Immortalized gba(-/-) neurons lack glucocerebrosidase protein and enzyme activity, and exhibit a dramatic increase in glucosylceramide and glucosylsphingosine accumulation, enlarged lysosomes, and an impaired ATP-dependent calcium-influx response; these phenotypical characteristics were absent in gba(+/+) neurons. This null allele gba(-/-) mouse neuronal model provides a much-needed tool to study the pathophysiology of Gaucher disease and to evaluate new therapies

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer’s and Parkinson’s disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition

Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architecture of this understudied form of dementia, and to generate a resource for the scientific community. Genome-wide association analysis identified five independent risk loci, whereas genome-wide gene-aggregation tests implicated mutations in the gene GBA. Genetic risk scores demonstrate that LBD shares risk profiles and pathways with Alzheimer's disease and Parkinson's disease, providing a deeper molecular understanding of the complex genetic architecture of this age-related neurodegenerative condition

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

We characterized the role of structural variants, a largely unexplored type of genetic variation, in two non-Alzheimer’s dementias, namely Lewy body dementia (LBD) and frontotemporal dementia (FTD)/amyotrophic lateral sclerosis (ALS). To do this, we applied an advanced structural variant calling pipeline (GATK-SV) to short-read whole-genome sequence data from 5,213 European-ancestry cases and 4,132 controls. We discovered, replicated, and validated a deletion in TPCN1 as a novel risk locus for LBD and detected the known structural variants at the C9orf72 and MAPT loci as associated with FTD/ALS. We also identified rare pathogenic structural variants in both LBD and FTD/ALS. Finally, we assembled a catalog of structural variants that can be mined for new insights into the pathogenesis of these understudied forms of dementia

Is Parkinson disease associated with lysosomal integral membrane protein type-2?: Challenges in interpreting association data

Este artigo é resultado de uma pesquisa concluída em 2003, que teve por objetivo investigar como se expressa a concepção de direito nas ações das pastorais sociais da Igreja Católica de Londrina. Ao observarmos que a concepção de caridade e de direitos sociais caminha lado a lado no interior da Igreja Católica, uma indagação surgiu: como a concepção de direito social se expressa nas ações das pastorais sociais. A caridade é difundida como um dever cristão, uma ação que se expressa na experiência da solidariedade em relação ao outro que se encontra em situação que lhe impossibilita garantir sua condição mínima de sobrevivência. Ao menos no discurso, as ações desenvolvidas não se limitam a fornecer cesta básica, roupas ou remédios. Constatamos que aqueles que atuam nas pastorais sociais movidos por valores como amor ao próximo e solidariedade, não perderam de vista, ao contrário, vêm reforçando a idéia de direito social

Fear of Falls and Related Factors in The Elderly Undergoing Dialysis Referred to Hospitals in Tehran 2021

Background and Objectives: The elderly patients undergoing hemodialysis are at higher risk for falling and its critical outcomes compared with their healthy counterparts. Falls can lead to the individual becoming fearful of experiencing subsequent falls. Yet little is known about the fear of falling in this high risk population. The present study aimed to assess the fear of falling and its contributing factors in the elderly patients with the history of falls undergoing hemodialysis, who referred to the hospitals in Tehran city in 2021 Methods: In this descriptive analytic cross sectional study, which was performed on 197 patients undergoing hemodialysis referring to Tehran city hospitals in 2021. Patients were selected with convenience sampling. The instruments for data collection was demographic characteristics scale, Falls Efficacy Scale-International (FES-I) . Data analysis was done by using descriptive and inferential tests and was shown via SPSS v.21 software. Results: Mean age of participants was 70.02‌±‌8.12 years and (63.5%) were men. Mean Falls Efficacy Scale-International Score was 35.29‌±‌13.54 points, which is consistent with a high fear of falling. There was consistency between adherence to fear of falling and demographic information (P<‌0.05). Conclusion: According to the results, the frequency of fear of falling in the elderly patients with the history of falls undergoing hemodialysis was significantly high. In older hemodialysis patients, fear of falling is a likely contributor to the occurrence of falls. Future researches should explore reducing the fear of falling as a preventive factor for falls in elderly hemodialysis patients