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Potential Composite Digenic Contribution of and Leading to Atypical Lethal Niemann-Pick Type C with Initial Crohn's Disease-like Presentation: Genotype-Phenotype Correlation Study.

Genes (Basel) 2022 May 29;13(6). Epub 2022 May 29.

Pediatric Department, Faculty of Medicine, Jordan University of Science and Technology, Irbid 22110, Jordan.

Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral disease characterized by progressive neurodegeneration with variable involvement of multisystemic abnormalities. Crohn's disease (CD) is an inflammatory bowel disease (IBD) with a multifactorial etiology influenced by variants in . Here, we investigated a patient with plausible multisystemic overlapping manifestations of both NPC and CD. Read More

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Cancer Clinic Redesign: Opportunities for Resource Optimization.

Curr Oncol 2022 May 31;29(6):3983-3995. Epub 2022 May 31.

The Ottawa Hospital, Ottawa, ON K1H 8L6, Canada.

Ambulatory cancer centers face a fluctuating patient demand and deploy specialized personnel who have variable availability. This undermines operational stability through the misalignment of resources to patient needs, resulting in overscheduled clinics, budget deficits, and wait times exceeding provincial targets. We describe the deployment of a Learning Health System framework for operational improvements within the entire ambulatory center. Read More

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Massive Accumulation of Sphingomyelin Affects the Lysosomal and Mitochondria Compartments and Promotes Apoptosis in Niemann-Pick Disease Type A.

J Mol Neurosci 2022 Jun 21. Epub 2022 Jun 21.

Department of Medical Biotechnology and Translational Medicine, University of Milan, Milan, Italy.

Niemann-Pick type A disease (NPA) is a rare lysosomal storage disorder caused by mutations in the gene coding for the lysosomal enzyme acid sphingomyelinase (ASM). ASM deficiency leads to the consequent accumulation of its uncatabolized substrate, the sphingolipid sphingomyelin (SM), causing severe progressive brain disease. To study the effect of the aberrant lysosomal accumulation of SM on cell homeostasis, we loaded skin fibroblasts derived from a NPA patient with exogenous SM to mimic the levels of accumulation characteristic of the pathological neurons. Read More

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Secondary Stabbing Headache Associated with COVID-19: a Case Report.

SN Compr Clin Med 2022 9;4(1):111. Epub 2022 Jun 9.

Department of Pathology, Veterans Health Administration, Washington, DC USA.

Although COVID-19 is mainly an acute viral illness, persistent symptoms are common. However, headache is not a frequent sequela of this disease. Furthermore, stabbing/ice-pick cephalalgia has been reported in < 10% of cases of COVID-19, and recurrent forms occurring after vaccination against the disease have not been published yet. Read More

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Probable Miglustat-Induced Psychosis in a Child With Niemann-Pick Type C.

Clin Neuropharmacol 2022 Jun 11. Epub 2022 Jun 11.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Background: Niemann-Pick disease type C (NP-C) is a neurodegenerative lysosomal disease in which psychiatric symptoms, such as psychosis, can also be observed. Miglustat is indicated in cases with progressive neurological manifestations, and although there have been studies reporting that miglustat completely cures psychosis, it has been recently observed that miglustat may also trigger psychosis. We report on a rare case of probable miglustat-induced psychosis in a patient with NP-C. Read More

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Loss of Drosophila NUS1 results in cholesterol accumulation and Parkinson's disease-related neurodegeneration.

FASEB J 2022 07;36(7):e22411

Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, China.

NgBR is the Nogo-B receptor, encoded by NUS1 gene. As NgBR contains a C-terminal domain that is similar to cis-isoprenyltransferase (cis-IPTase), NgBR was speculated to stabilize nascent Niemann-Pick type C 2 (NPC2) to facilitate cholesterol transport out of lysosomes. Mutations in the NUS1 were known as risk factors for Parkinson's disease (PD). Read More

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Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C.

Wellcome Open Res 2022 11;7:11. Epub 2022 Jan 11.

Translational Gastroenterology Unit, University of Oxford, Oxford, UK.

 Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn's Disease but has been associated with infection risk and neurological complications such as demyelination. Niemann-Pick disease Type C1 (NPC1) is a lysosomal storage disorder presenting in childhood with neurological deterioration, liver damage and respiratory infections. Some NPC1 patients develop severe Crohn's disease. Read More

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January 2022

Living donor liver transplantation combined with splenectomy in a child with Niemann-Pick disease type B: single-centre experience of perioperative anticoagulation regimen.

Hepatobiliary Surg Nutr 2022 Jun;11(3):498-501

Department of Transplantation, Xinhua Hospital Affifiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

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Significance of thickening of the upper gastrointestinal tract on cross sectional imaging: Endoscopic correlation.

Eur J Surg Oncol 2022 Jun 4. Epub 2022 Jun 4.

Department of Surgery, Leicester Royal Infirmary, University Hospitals of Leicester NHS Trust, UK; Leicester Cancer Research Centre, University of Leicester, UK. Electronic address:

Aim: To report the endoscopic findings for a cohort of patients referred for discussion at a specialist oesophago-gastric multi-disciplinary team (MDT) meeting, on the basis of CT mural thickening.

Patients And Methods: The records of patients discussed at a regional oesophago-gastric MDT during the time 1 April 2014 to 5 February 2016 were reviewed in order to identify patients who were endoscopy naïve at the time of CT and scans re-reviewed to measure maximum wall thickness.

Results: 456 patients were referred for discussion, 126 met the inclusion criteria. Read More

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Diagnostic Accuracy and Optimal Cut-off of Controlled Attenuation Parameter for the Detection of Hepatic Steatosis in Indian Population.

J Clin Exp Hepatol 2022 May-Jun;12(3):893-898. Epub 2021 Oct 13.

Institute of Digestive and Hepatobiliary Sciences, Medanta The Medicity hospital, Gurugram, Haryana, 122001, India.

Background And Aims: Ultrasound of the liver is not good to pick up mild steatosis. Controlled attenuation parameter (CAP) evaluated in transient elastography (FibroScan) is widely available in India. However, data regarding the diagnostic accuracy and optimal cut-off values of CAP for diagnosing hepatic steatosis are scarce in Indian population. Read More

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October 2021

Complex geometry and integrated macro-porosity: Clinical applications of electron beam melting to fabricate bespoke bone-anchored implants.

Acta Biomater 2022 Jun 5. Epub 2022 Jun 5.

Department of Biomaterials, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. Electronic address:

The last decade has witnessed rapid advancements in manufacturing technologies for biomedical implants. Additive manufacturing (or 3D printing) has broken down major barriers in the way of producing complex 3D geometries. Electron beam melting (EBM) is one such 3D printing process applicable to metals and alloys. Read More

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Polymerized porin as a novel delivery platform for coronavirus vaccine.

J Nanobiotechnology 2022 Jun 7;20(1):260. Epub 2022 Jun 7.

Laboratory of Molecular Immunology, Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union Medical College, Kunming, 650031, China.

Coronavirus disease 2019 (COVID-19), caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), seriously threatens human life and health. The correct folding and polymerization of the receptor-binding domain (RBD) protein of coronavirus in Escherichia coli may reduce the cost of SARS-CoV-2 vaccines. In this study, we constructed this nanopore by using the principle of ClyA porin polymerization triggered by the cell membrane. Read More

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Poor ovarian response is associated with air pollutants: A multicentre study in China.

EBioMedicine 2022 May 31;81:104084. Epub 2022 May 31.

Centre of Reproductive Medicine, Department of Obstetrics and Gynaecology, Shengjing Hospital of China Medical University, No. 39 Huaxiang Road, Tiexi District, Shenyang, Liaoning 110022, PR China; Key Laboratory of Reproductive Dysfunction Disease and Fertility Remodelling of Liaoning Province, Shenyang, Liaoning 110022, PR China. Electronic address:

Background: Human evidence on the association between air pollution and ovarian response is scarce. Poor ovarian response (POR) with an incidence of 5-35% is a tricky problem in IVF treatment.

Methods: In this large-scale multicentre study, we included 2186 women with POR (< 4 oocytes retrieved) and 7033 women with a normal ovarian response (10-15 oocytes retrieved), who underwent their first in vitro fertilization treatment in five cities in northern China during 2015-2020. Read More

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BORC-ARL8-HOPS Ensemble is Required for Lysosomal Cholesterol Egress through NPC2.

Mol Biol Cell 2022 Jun 2:mbcE21110595T. Epub 2022 Jun 2.

Department of Molecular Genetics and Microbiology, University of New Mexico, Albuquerque, New Mexico, 87131, USA.

Lysosomes receive extracellular and intracellular cholesterol and redistribute it throughout the cell. Cholesterol egress from lysosomes is critical for cholesterol homeostasis, and its failure underlies the pathogenesis of genetic disorders such as Niemann-Pick C disease. Here, we report that the BORC-ARL8-HOPS ensemble is required for egress of free cholesterol from lysosomes and for storage of esterified cholesterol in lipid droplets. Read More

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Olipudase Alfa: First Approval.

Susan J Keam

Drugs 2022 Jun;82(8):941-947

Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.

Olipudase alfa (XENPOZYME) is a recombinant human acid sphingomyelinase that has been developed by Sanofi, for the treatment of acid sphingomyelinase deficiency (ASMD). Olipudase alfa catalyses the hydrolysis of sphingomyelin accumulated in hepatocytes and in mononuclear-macrophage cells, such as the lungs, liver, spleen, kidneys and bone marrow. Olipudase alfa was approved in Japan under the SAKIGAKE designation on 28 March 2022 for use in adult and paediatric patients with non-CNS manifestations of ASMD and has received a positive Committee for Medicinal Products for Human Use opinion in the EU. Read More

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On the definition of dermatological disease Part 2: Approaches for defining dermatological diseases.

Clin Exp Dermatol 2022 May 30. Epub 2022 May 30.

Centre of Evidence Based Dermatology, Population and Lifespan Sciences, School of Medicine, University of Nottingham, Nottingham, UK.

In part 1 of this 2-part review, conceptual frameworks for defining skin diseases were articulated. In this review, the main approaches that can be used to develop diagnostic criteria for skin disease are summarised, using atopic dermatitis as an example. Different frameworks for defining skin disease for research purposes are articulated, including statistical, prognostic, operational, clinical and epidemiological approaches. Read More

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Maintaining School Foodservice Operations in Ohio during COVID-19: "This [Was] Not the Time to Sit Back and Watch".

Int J Environ Res Public Health 2022 05 14;19(10). Epub 2022 May 14.

Medical Dietetics, School of Health and Rehabilitation Sciences, The Ohio State University College of Medicine, Columbus, OH 43210, USA.

The COVID-19-related lockdowns led to school closures across the United States, cutting off critical resources for nutritious food. Foodservice employees emerged as frontline workers; understanding their experiences is critical to generate innovations for program operations and viability. The purpose of this cross-sectional study was to characterize COVID-19-related foodservice adaptations for summer and school year meal provision. Read More

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HDL as Bidirectional Lipid Vectors: Time for New Paradigms.

Biomedicines 2022 May 20;10(5). Epub 2022 May 20.

Department of Molecular Biology, Instituto Nacional de Cardiología "Ignacio Chávez", Mexico City 14080, Mexico.

The anti-atherogenic properties of high-density lipoproteins (HDL) have been explained mainly by reverse cholesterol transport (RCT) from peripheral tissues to the liver. The RCT seems to agree with most of the negative epidemiological correlations between HDL cholesterol levels and coronary artery disease. However, therapies designed to increase HDL cholesterol failed to reduce cardiovascular risk, despite their capacity to improve cholesterol efflux, the first stage of RCT. Read More

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Lyso-IP: Uncovering Pathogenic Mechanisms of Lysosomal Dysfunction.

Biomolecules 2022 Apr 21;12(5). Epub 2022 Apr 21.

Section on Molecular Neurogenetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bld 35A, Room 1E623 35 Convent Drive, MSC 3708, Rockville, MD 20892, USA.

Lysosomes are ubiquitous membrane-bound organelles found in all eukaryotic cells. Outside of their well-known degradative function, lysosomes are integral in maintaining cellular homeostasis. Growing evidence has shown that lysosomal dysfunction plays an important role not only in the rare group of lysosomal storage diseases but also in a host of others, including common neurodegenerative disorders, such as Alzheimer disease and Parkinson disease. Read More

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Glioma dataset from Rabat: Clinicopathological, immunohistochemical and disease progression features of 32 Moroccan patients with diffuse Glioma.

Data Brief 2022 Jun 12;42:108265. Epub 2022 May 12.

Research's Pedagogic Unit of Pathological Anatomy, Laboratory of Pathological Anatomy, Research Team in Tumour Pathology, Faculty of Medicine and Pharmacy, Mohammed V University in Rabat, Avenue Mohammed Belarbi El Alaoui, Souissi, BP 6203, Rabat Institutes, Rabat 10000, Morocco.

The Moroccan Glioma Dataset contains the clinical data of 32 patients with glioma. The clinical data including demographic data (age, sex), tumor characteristics (tumor location, Glioma type, Karnofsky performance score, mitotic activity, cell density, necrosis, endotheliocapillary vascular proliferation, MRI contrast pick-up, corpus collosum infiltration and Oedema), treatment strategy (subtotal resection, gross resection, biopsy, radiotherapy, chemotherapy), expression pattern of tumor biomarkers (IDH1, HIF-1alpha, P53, Ki-67), and survival data (Kaplan-Meier curves for disease progression). The dataset can be used to relate tumor characteristics to tumor biomarkers and to predict disease progression for a better treatment management. Read More

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A 2-bp deletion mutation in gene leading to lysosomal acid sphingomyelinase deficiency in a Chinese consanguineous pedigree.

J Pediatr Endocrinol Metab 2022 May 27. Epub 2022 May 27.

Prenatal Diagnosis Department, Chengdu Women's and Children's Central Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.

Background: Niemann-Pick disease type A (NPDA, MIM: 257200) is an autosomal recessive sphingolipidosis caused by lysosomal acid sphingomyelinase (ASM) deficiency. A cluster of genes located at chromosome 11p15 have been reported to be imprinted genes, such as TSSC5, TSSC3, and ZNF215 that flanking SMPD1 gene. It was reported by a few recent studies that SMPD1 gene was paternally imprinted and maternally preferentially expressed. Read More

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Influencing Discharge Efficiency: Addressing Interdisciplinary Communication, Transportation, and COVID-19 as Barriers.

Prof Case Manag 2022 Jul-Aug 01;27(4):169-180

William D. Jones, DNP, RN, CNML, CNL, in his current position is an assistant unit director of Medical Oncology at Rush University Medical Center. William's research focuses on the continuum of care and hospital throughput using his background as an acute inpatient rehabilitation liaison. Mitigating discharge barriers and improving hospital-wide throughput have been key research focus areas.

Purpose: At one tertiary, academic medical center, two general medicine units averaged 94% and 97% occupancy causing strain on patient throughput. This project was implemented at these two comparable general medicine units, totaling 64 beds. On each of these units, Pareto analyses on causal factors related to discharge order to exit time (DOTE) were performed. Read More

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An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.

Eur J Hum Genet 2022 May 25. Epub 2022 May 25.

CENTOGENE GmbH, 18055, Rostock, Germany.

To present our experience using a multiomic approach, which integrates genetic and biochemical testing as a first-line diagnostic tool for patients with inherited metabolic disorders (IMDs). A cohort of 3720 patients from 62 countries was tested using a panel including 206 genes with single nucleotide and copy number variant (SNV/CNV) detection, followed by semi-automatic variant filtering and reflex biochemical testing (25 assays). In 1389 patients (37%), a genetic diagnosis was achieved. Read More

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Studies in the antiviral molecular mechanisms of 25-hydroxycholesterol: Disturbing cholesterol homeostasis and post-translational modification of proteins.

Eur J Pharmacol 2022 Jul 19;926:175033. Epub 2022 May 19.

College of Pharmaceutical Science, Institute of Drug Development & Chemical Biology, Zhejiang University of Technology, Huzhou, 313200, Zhejiang, PR China. Electronic address:

Efficient antiviral drug discovery has been a pressing issue of global public health concern since the outbreak of coronavirus disease 2019. In recent years, numerous in vitro and in vivo studies have shown that 25-hydroxycholesterol (25HC), a reactive oxysterol catalyzed by cholesterol-25-hydroxylase, exerts broad-spectrum antiviral activity with high efficiency and low toxicity. 25HC restricts viral internalization and disturbs the maturity of viral proteins using multiple mechanisms. Read More

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Brain uptake and distribution patterns of 2-hydroxypropyl-ß-cyclodextrin after intrathecal and intranasal administration.

J Pharm Pharmacol 2022 May 21. Epub 2022 May 21.

The Engelke Group, Keymar, MD, USA.

Objectives: Cyclodextrins are increasingly used therapeutically. For example, 2-hydroxypropyl-ß-cyclodextrin (kleptose) is used for the treatment of Niemann-Pick disease. Kleptose crosses the blood-brain barrier poorly, in part because of a central nervous system (CNS)-to-blood (efflux) transporter, and so is administered by the intrathecal (IT) route in the treatment of Niemann-Pick disease. Read More

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Integrating functional genomics with genetics to understand the biology of ALS and FTD.

Carlos Cruchaga

Med (N Y) 2022 04;3(4):226-227

Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, MO, USA; The Charles F. and Joanne Knight Alzheimer Disease Research Center, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:

Genetic variants in chromosome 19 are strongly associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Ma et al. and Brown et al. Read More

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CRISPR-Cas9-Mediated NPC1 Gene Deletion Enhances HEK 293 T Cell Adhesion by Regulating E-Cadherin.

Mol Biotechnol 2022 May 19. Epub 2022 May 19.

School of Life Sciences and Technology, Xinxiang Medical University, Xinxiang, China.

NPC1 gene encodes a transmembrane glycoprotein on the late endosome/lysosomal membrane. Its mutation leads to a rare and aggravated autosomal recessive neurovisceral condition, termed Niemann-Pick disease type C1 (NPC1), which is characterized by progressive neurodegeneration, visceral symptoms, and premature death. To investigate the influence of NPC1 gene deletion on cell morphology, adhesion, proliferation, and apoptosis, CRISPR-Cas9 technology was used to knockout the NPC1 gene in HEK 293 T cells. Read More

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Variants in the Niemann-pick type C genes are not associated with Alzheimer's disease: a large case-control study in the Chinese population.

Neurobiol Aging 2022 Aug 20;116:49-54. Epub 2022 Apr 20.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, China; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China. Electronic address:

Despite the similar clinical and pathological features between Niemann-Pick type C (NPC) disease and Alzheimer's disease (AD), few studies have investigated the role of NPC genes in AD. To elucidate the role of NPC genes in AD, we sequenced NPC1 and NPC2 in 1192 AD patients and 2412 controls. Variants were divided into common variants and rare variants according to minor allele frequency (MAF). Read More

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Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers.

Clin Transl Med 2022 May;12(5):e818

Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two devastating human neurodegenerative diseases. A hallmark pathological feature of both diseases is the depletion of the RNA-binding protein TDP-43 from the nucleus in the brain and spinal cord of patients. A major function of TDP-43 is to repress the inclusion of cryptic exons during RNA splicing. Read More

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Nano-PSO Administration Attenuates Cognitive and Neuronal Deficits Resulting from Traumatic Brain Injury.

Molecules 2022 Apr 23;27(9). Epub 2022 Apr 23.

Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, Israel.

Traumatic Brain Injury (TBI), is one of the most common causes of neurological damage in young populations. It is widely considered as a risk factor for neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's (PD) disease. These diseases are characterized in part by the accumulation of disease-specific misfolded proteins and share common pathological features, such as neuronal death, as well as inflammatory and oxidative damage. Read More

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