5,204 results match your criteria Pick Disease


A case of ezetimibe-effective hypercholesterolemia with a novel heterozygous variant in ABCG5.

Endocr J 2020 Jul 9. Epub 2020 Jul 9.

Department of Molecular Endocrinology and Metabolism, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo 113-8519, Japan.

Sitosterolemia is caused by homozygous or compound heterozygous gene mutations in either ATP-binding cassette subfamily G member 5 (ABCG5) or 8 (ABCG8). Since ABCG5 and ABCG8 play pivotal roles in the excretion of neutral sterols into feces and bile, patients with sitosterolemia present elevated levels of serum plant sterols and in some cases also hypercholesterolemia. A 48-year-old woman was referred to our hospital for hypercholesterolemia. Read More

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http://dx.doi.org/10.1507/endocrj.EJ20-0044DOI Listing

A discussion on controversies and ethical dilemmas in prostate cancer screening.

J Med Ethics 2020 Jul 6. Epub 2020 Jul 6.

Department of Surgery, WHO Collaboration Centre for Research in Surgical Care Delivery in LMIC, Bhabha Atomic Research Centre Hospital, Mumbai, MH 400094, India

Prostate cancer (PCa) is one of the the most common cancers in men. A blood test called prostate-specific antigen (PSA) has a potential to pick up this cancer very early and is used for screening of this disease. However, screening for prostate cancer is a matter of debate. Read More

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http://dx.doi.org/10.1136/medethics-2019-105979DOI Listing

Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.

Mol Genet Metab 2020 Jun 24. Epub 2020 Jun 24.

Clinical Development, Sanofi Genzyme, Cambridge, MA, United States of America.

The liver is a major site of lipoprotein synthesis and metabolism. Liver manifestations of chronic visceral ASMD include hepatomegaly, fibrosis, elevated liver enzymes and a pro-atherogenic lipid profile. Measurements of sphingomyelin (SM) levels in liver biopsies and lyso-SM in plasma were used as pharmacodynamic biomarkers. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.010DOI Listing

Teleoperation of Collaborative Robot for Remote Dementia Care in Home Environments.

IEEE J Transl Eng Health Med 2020 15;8:1400510. Epub 2020 Jun 15.

ABB Corporate Research72178VästeråsSweden.

As a senile chronic, progressive and currently incurable disease, dementia has an enormous impact on society and life quality of the elderly. The development of teleoperation technology has changed the traditional way of care delivery and brought a variety of novel applications for dementia care. In this paper, a telerobotic system is presented which gives the caregivers the capability of assisting dementia elderly remotely. Read More

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http://dx.doi.org/10.1109/JTEHM.2020.3002384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326153PMC

Sea-blue histiocytes in the bone marrow of a patient with Niemann-Pick disease type C2.

Ann Biol Clin (Paris) 2020 Jul 2. Epub 2020 Jul 2.

Laboratoire d'hématologie, Groupe Hospitalier de la région Mulhouse Sud Alsace, Mulhouse, France.

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http://dx.doi.org/10.1684/abc.2020.1569DOI Listing

Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy.

Mol Genet Metab 2020 Jun 24. Epub 2020 Jun 24.

Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA.

Background: Acid sphingomyelinase deficiency (ASMD) also known as Niemann-Pick disease, is a rare lysosomal storage disorder with a diverse disease spectrum that includes slowly progressive, chronic visceral (type B) and neurovisceral forms (intermediate type A/B), in addition to infantile, rapidly progressive fatal neurovisceral disease (type A).

Purpose And Methods: We review the published evidence on the relevance of splenomegaly and reduced lung diffusion capacity to the clinical burden of chronic forms of ASMD. Targeted literature searches were conducted to identify relevant ASMD and non-ASMD studies for associations between diffusing capacity of the lungs for carbon monoxide (DL) and splenomegaly, with clinical parameters and outcome measures. Read More

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http://dx.doi.org/10.1016/j.ymgme.2020.06.008DOI Listing

NPC1 deficiency impairs cerebellar postnatal development of microglia and climbing fiber refinement in a mouse model of Niemann-Pick Type C disease.

Development 2020 Jul 1. Epub 2020 Jul 1.

Department of Molecular & Cellular Biosciences, Rowan University, Glassboro, NJ, USA

Little is known about the effects of NPC1 deficiency in brain development and if they contribute to neurodegeneration in Niemann-Pick Type C disease. Since cerebellar Purkinje cells die early and to a higher extent in NPC, here we analyzed the effect of NPC1 deficiency in microglia and climbing fiber synaptic refinement during cerebellar postnatal development using the mouse. Our analysis revealed that NPC1 deficiency leads to early phenotypic changes in microglia that are not associated with an innate immune response. Read More

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http://dx.doi.org/10.1242/dev.189019DOI Listing

Leaving No Man Behind: How Differentiated Service Delivery Models Increase Men's Engagement in HIV Care.

Int J Health Policy Manag 2020 Mar 7. Epub 2020 Mar 7.

South African Medical Research Council, Cape Town, South Africa.

Background: Men demonstrate disproportionately poor uptake and engagement in HIV services with strong evidence linking men's disinclination to engage in HIV services to their masculinity, necessitating adaptive programming to accommodate HIV-positive men. Differentiated service delivery models (DSDMs) - streamlined patient-centred antiretroviral treatment (ART) delivery services - have demonstrated the potential to improve men's engagement in HIV services. However, it is unclear how and why these models contribute to men's reframing of ART-friendly masculinities - a set of attributes, behaviours and roles associated with boys and men that favour the uptake and use of ART. Read More

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http://dx.doi.org/10.34172/ijhpm.2020.32DOI Listing

2-Hydroxypropyl-β-cyclodextrin Ototoxicity in Adult Rats: Rapid Onset and Massive Destruction of Both Inner and Outer Hair Cells Above a Critical Dose.

Neurotox Res 2020 Jun 30. Epub 2020 Jun 30.

Center for Hearing and Deafness, 137 Cary Hall, University at Buffalo, Buffalo, NY, 14214, USA.

2-Hydroxypropyl-β-cyclodextrin (HPβCD), a cholesterol chelator, is being used to treat diseases associated with abnormal cholesterol metabolism such as Niemann-Pick C1 (NPC1). However, the high doses of HPβCD needed to slow disease progression may cause hearing loss. Previous studies in mice have suggested that HPβCD ototoxicity results from selective outer hair cell (OHC) damage. Read More

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http://dx.doi.org/10.1007/s12640-020-00252-7DOI Listing

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

Int J Mol Sci 2020 Jun 24;21(12). Epub 2020 Jun 24.

Research Group Anatomy, School of Medicine and Health Sciences, Carl von Ossietzky University Oldenburg, 26129 Oldenburg, Germany.

Niemann-Pick type C1 (NPC1) is a lysosomal storage disorder, inherited as an autosomal-recessive trait. Mutations in the gene result in malfunction of the NPC1 protein, leading to an accumulation of unesterified cholesterol and glycosphingolipids. Beside visceral symptoms like hepatosplenomegaly, severe neurological symptoms such as ataxia occur. Read More

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http://dx.doi.org/10.3390/ijms21124502DOI Listing

Deficits in bone strength, density and microarchitecture in women living with HIV: A cross-sectional HR-pQCT study.

Bone 2020 Jun 26:115509. Epub 2020 Jun 26.

Women's Health Research Institute, H214-4500 Oak St, Vancouver, British Columbia V6H 3N1, Canada; Department of Medicine, Division of Endocrinology, University of British Columbia, Gordon and Leslie Diamond Centre, 2775 Laurel Street, 4th Floor, Vancouver, British Columbia V5Z 1M9, Canada; Centre for Menstrual Cycle and Ovulation Research, The Gordon and Leslie Diamond Health Care Centre, Room 4111 - 4th Floor, 2775 Laurel Street, Vancouver, British Columbia V5Z 1M9, Canada. Electronic address:

Purpose: With the advent of combined antiretroviral therapy (cART), life expectancy has increased among persons living with HIV, but so too has risk for comorbidities including osteoporosis and fragility fracture. To explore whether HIV status and cART influence three-dimensional measures of BMD, bone microarchitecture and strength we aimed to compare these outcomes between women living with HIV (WLWH; n = 50; 50.4 ± 1. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115509DOI Listing

High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders.

J Neurol 2020 Jun 26. Epub 2020 Jun 26.

Neurology Department, Reference Center for Lysosomal Diseases, Neurogenetics and Metabolism Unit, Hôpital Pitié-Salpêtrière, 47-83 boulevard de l'Hôpital, 75013, Paris, France.

Late-onset Niemann-Pick type C (NP-C) is a rare, underdiagnosed lysosomal disease with neurological manifestations. A specific treatment, miglustat, can stabilize the disease if given early. Recently, three plasma screening biomarkers (PSBs) were developed [cholestane3β,5α,6βtriol (C-triol), 7-ketocholesterol (7-KC), and lysosphingomyelin-509 (LSM-509)], allowing a simpler and quite robust screening of patients suitable for genetic testing. Read More

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http://dx.doi.org/10.1007/s00415-020-10020-4DOI Listing

Ubiquitin-mediated regulation of sterol homeostasis.

Curr Opin Cell Biol 2020 Jun 21;65:103-111. Epub 2020 Jun 21.

Cambridge Institute of Therapeutic Immunology & Infectious Disease, University of Cambridge, Cambridge, United Kingdom. Electronic address:

Cholesterol is an essential component of mammalian membranes, and its homeostasis is strictly regulated, with imbalances causing atherosclerosis, Niemann Pick disease, and familial hypercholesterolemia. Cellular cholesterol supply is mediated by LDL-cholesterol import and de novo cholesterol biosynthesis, and both pathways are adjusted to cellular demand by the cholesterol-sensitive SREBP2 transcription factor. Cholesterol homeostasis is modulated by a wide variety of metabolic pathways and the ubiquitination machinery, in particular E3 ubiquitin ligases. Read More

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http://dx.doi.org/10.1016/j.ceb.2020.04.010DOI Listing

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.

Cerebellum 2020 Jun 22. Epub 2020 Jun 22.

Division of Neurology, Department of Clinical Medicine, Universidade Federal do Ceará, Fortaleza, Brazil.

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. Read More

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http://dx.doi.org/10.1007/s12311-020-01156-0DOI Listing

A Revised Surgical Approach to Induce Endolymphatic Hydrops in the Guinea Pig.

J Vis Exp 2020 Jun 4(160). Epub 2020 Jun 4.

Department of Otolaryngology, Head and Neck Surgery, Washington University School of Medicine in St. Louis;

Endolymphatic hydrops is an enlargement of scala media that is most often associated with Meniere's disease, though the pathophysiologic mechanism(s) remain unclear. In order to adequately study the attributes of endolymphatic hydrops, such as the origins of low-frequency hearing loss, a reliable model is needed. The guinea pig is a good model because it hears in the low-frequency regions that are putatively affected by endolymphatic hydrops. Read More

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http://dx.doi.org/10.3791/60597DOI Listing

Characterization of Dysphagia and Longitudinal Changes in Swallowing Function in Adults with Niemann-Pick Disease Type C Treated with Miglustat.

Dysphagia 2020 Jun 19. Epub 2020 Jun 19.

Centre for Neuroscience of Speech, The University of Melbourne, 550 Swanston Street, Parkville, Melbourne, VIC, 3010, Australia.

Niemann-Pick disease type C (NPC) is a rare, autosomal recessive neurodegenerative disease, characterized by progressive psychiatric and neurological deficits. Neurological symptoms include cognitive decline and dysphagia. Aspiration pneumonia secondary to dysphagia is a leading cause of death in NPC. Read More

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http://dx.doi.org/10.1007/s00455-020-10145-8DOI Listing

Science and Healthy Meals in the World: Nutritional Epigenomics and Nutrigenetics of the Mediterranean Diet.

Nutrients 2020 Jun 11;12(6). Epub 2020 Jun 11.

Department of Biological, Chemical and Pharmaceutical Sciences and Technologies, University of Palermo, Viale delle Scienze, edificio 16, 90128 Palermo, Italy.

The Mediterranean Diet (MD), UNESCO Intangible Cultural Heritage of Humanity, has become a scientific topic of high interest due to its health benefits. The aim of this review is to pick up selected studies that report nutrigenomic or nutrigenetic data and recapitulate some of the biochemical/genomic/genetic aspects involved in the positive health effects of the MD. These include (i) the antioxidative potential of its constituents with protective effects against several diseases; (ii) the epigenetic and epigenomic effects exerted by food components, such as Indacaxanthin, Sulforaphane, and 3-Hydroxytyrosol among others, and their involvement in the modulation of miRNA expression; (iii) the existence of predisposing or protective human genotypes due to allelic diversities and the impact of the MD on disease risk. Read More

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http://dx.doi.org/10.3390/nu12061748DOI Listing
June 2020
3.148 Impact Factor

Structural Basis of Low-pH-Dependent Lysosomal Cholesterol Egress by NPC1 and NPC2.

Cell 2020 Jun 11. Epub 2020 Jun 11.

Department of Molecular Biology, Princeton University, Princeton, NJ 08544, USA. Electronic address:

Lysosomal cholesterol egress requires two proteins, NPC1 and NPC2, whose defects are responsible for Niemann-Pick disease type C (NPC). Here, we present systematic structural characterizations that reveal the molecular basis for low-pH-dependent cholesterol delivery from NPC2 to the transmembrane (TM) domain of NPC1. At pH 8. Read More

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http://dx.doi.org/10.1016/j.cell.2020.05.020DOI Listing

Research advances on neurite outgrowth inhibitor B receptor.

J Cell Mol Med 2020 Jun 15. Epub 2020 Jun 15.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China.

Neurite outgrowth inhibitor-B (Nogo-B) is a membrane protein which is extensively expressed in multiple organs, especially in endothelial cells and vascular smooth muscle cells of blood vessels and belongs to the reticulon protein family. Notably, its specific receptor, Nogo-B receptor (NgBR), encoded by NUS1, has been implicated in many crucial cellular processes, such as cholesterol trafficking, lipid metabolism, dolichol synthesis, protein N-glycosylation, vascular remodelling, angiogenesis, tumorigenesis and neurodevelopment. In recent years, accumulating studies have demonstrated the statistically significant changes of NgBR expression levels in human diseases, including Niemann-Pick type C disease, fatty liver, congenital disorders of glycosylation, persistent pulmonary hypertension of the newborn, invasive ductal breast carcinoma, malignant melanoma, non-small cell lung carcinoma, paediatric epilepsy and Parkinson's disease. Read More

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http://dx.doi.org/10.1111/jcmm.15391DOI Listing

Niemann-Pick Disease Type B in Traumatic Splenic Rupture.

Am J Forensic Med Pathol 2020 Jun 12. Epub 2020 Jun 12.

From the Department of Forensic Medicine, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, People's Republic of China.

The rupture of spleen is common in clinical and forensic practice. Trauma is the most common cause of splenic rupture. Although rare, traumatic splenic rupture may occur in these individuals with asymptomatic underlying disease, and clinical and forensic pathologists may neglect the disease and diagnose only the traumatic splenic rupture. Read More

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http://dx.doi.org/10.1097/PAF.0000000000000577DOI Listing

When Blackness Does Not Fade After a Pandemic: An Appeal to Acknowledge the Unequal Burden of Social Isolation.

Authors:
Nia Johnson

J Urban Health 2020 Jun;97(3):329-331

Harvard University, Cambridge, MA, USA.

Social distancing is one of the few tools that the everyman has to combat the Coronavirus disease. However, for those who are subject to racialized stereotypes about work productivity, educational ability, and other assumptions, the choice to socially distance can have many unintended consequences. This article is an appeal to our posterity, inviting a conversation about how we will remember the Coronavirus' impact on our lives. Read More

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http://dx.doi.org/10.1007/s11524-020-00451-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293429PMC

International Rare Cancers Initiative Multicenter Randomized Phase II Trial of Cisplatin and Fluorouracil Versus Carboplatin and Paclitaxel in Advanced Anal Cancer: InterAAct.

J Clin Oncol 2020 Jun 12:JCO1903266. Epub 2020 Jun 12.

Royal Marsden Hospital, London, United Kingdom.

Purpose: To compare cisplatin plus fluorouracil (FU) versus carboplatin plus paclitaxel in chemotherapy-naïve advanced anal cancer to establish the optimal regimen.

Patients And Methods: Patients who had not received systemic therapy for advanced anal cancer were randomly assigned 1:1 to intravenous cisplatin 60 mg/m (day 1) plus FU 1,000 mg/m (days 1-4) every 21 days or carboplatin (area under the curve, 5; day 1) plus paclitaxel 80 mg/m (days 1, 8, and 15) every 28 days for 24 weeks, until disease progression, intolerable toxicity, or withdrawal of consent. Primary end point was objective response rate (ORR). Read More

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http://dx.doi.org/10.1200/JCO.19.03266DOI Listing

Long-term Positivity to SARS-CoV-2: A Clinical Case of COVID-19 with Persistent Evidence of Infection.

Eur J Case Rep Intern Med 2020 11;7(6):001707. Epub 2020 May 11.

Internal Medicine, Department of Medicine and Science of Aging, 'G. D'Annunzio' University, Chieti, Italy.

In December 2019, an outbreak of a new coronavirus (SARS-CoV-2) was reported in Hubei province in China. The disease has since spread worldwide and the World Health Organization declared it a pandemic on 11 March 2020. We describe the case of a 65-year-old woman who clinically recovered from COVID-19 but showed persistent infection with SARS-CoV-2 for 51 days. Read More

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http://dx.doi.org/10.12890/2020_001707DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7279900PMC

Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions.

Biochim Biophys Acta Mol Basis Dis 2020 Jun 6;1866(10):165875. Epub 2020 Jun 6.

Department of Gastroenterology, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile. Electronic address:

Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of macromolecules in the late endocytic system and are caused by inherited defects in genes that encode mainly lysosomal enzymes or transmembrane lysosomal proteins. Niemann-Pick type C disease (NPCD), a LSD characterized by liver damage and progressive neurodegeneration that leads to early death, is caused by mutations in the genes encoding the NPC1 or NPC2 proteins. Both proteins are involved in the transport of cholesterol from the late endosomal compartment to the rest of the cell. Read More

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http://dx.doi.org/10.1016/j.bbadis.2020.165875DOI Listing

Wilson disease.

Curr Opin Neurol 2020 Jun 8. Epub 2020 Jun 8.

Wilson Disease Clinic, Kokilaben Dhirubhai Ambani Hospital and Medical Research Institute (KDAH).

Purpose Of Review: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms.

Recent Findings: Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups - patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood. A disease phenotype with dominant psychiatric features and increased risk of cardiac problems and various sleep disorders have been identified. Read More

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http://dx.doi.org/10.1097/WCO.0000000000000837DOI Listing

[Frontotemporal Lobar Degeneration: A Historical Overview of the Concept].

Brain Nerve 2020 Jun;72(6):561-573

Department of Neuropsychiatry, Aizu Medical Center, Fukushima Medical School.

Arnold Pick described a focal cortical syndrome caused by focal temporal and/or frontal cortical atrophy, later reffered to as Pick's disease (PiD), a prototype of frontotemporal lobar degeneration (FTLD). In contrast to the current concept of PiD, the presence of Pick bodies (tau-positive inclusions) was not thought to be necessary for the diagnosis of PiD. Four out of the seven patients in his original paper had predominant left temporal atrophy and language related symptoms corresponding to semantic dementia. Read More

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http://dx.doi.org/10.11477/mf.1416201567DOI Listing

Assessing Gaps in Comprehensive HIV Care Across Settings of Care for Women Living with HIV in Canada.

J Womens Health (Larchmt) 2020 Jun 5. Epub 2020 Jun 5.

Department of Family Medicine, McGill University, Montreal, Canada.

Women living with HIV in Canada experience barriers to comprehensive HIV care. We sought to describe care gaps across a typology of care. We analyzed baseline data from the Canadian HIV Women's Sexual and Reproductive Health Cohort Study (CHIWOS). Read More

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http://dx.doi.org/10.1089/jwh.2019.8121DOI Listing

Insights from COVID-19 cluster containment in Bhilwara District, Rajasthan.

Indian J Public Health 2020 Jun;64(Supplement):S177-S182

Chairperson, Indian Public Health Academy, Former Executive Director, NHSRC, New Delhi, India.

Background: In March 2020, a healthcare professional from a renowned private hospital, in the textile city of Bhilwara, Rajasthan, reported clustering of cases of pneumonia amongst doctors and paramedical staff suspected to be due to COVID-19. The basis of suspicion was clinico-eco-epidemiologic-radiological findings as, by that time, about 20 COVID19 cases were reported from the state of Rajasthan including a big Italian group of tourists who travelled extensively in Rajasthan, including Udaipur city.

Objectives: The current study presents the field experience of the Central and the State Rapid Response Teams (RRTs) in the cluster containment at Bhilwara. Read More

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http://dx.doi.org/10.4103/ijph.IJPH_489_20DOI Listing

Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C.

Life Sci Alliance 2020 Jul 2;3(7). Epub 2020 Jun 2.

Department of Pharmacology, University of Oxford, Oxford, UK

Niemann-Pick disease type C (NPC) is a rare lysosomal storage disease caused by mutations in either the or genes. Mutations in the gene lead to the majority of clinical cases (95%); however, the function of NPC1 remains unknown. To gain further insights into the biology of NPC1, we took advantage of the homology between the human NPC1 protein and its yeast orthologue, Niemann-Pick C-related protein 1 (Ncr1). Read More

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http://dx.doi.org/10.26508/lsa.201800253DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7283134PMC

Novel compound heterozygous mutation in gene cause Niemann-Pick disease type C with juvenile onset.

J Genet 2020 ;99

Oasi Research Institute - IRCCS, 94018 Troina, Italy.

Niemann-Pick disease type C (NPC) is a progressive lysosomal storage disorder caused by mutations in the (in 95% of cases) or (in ~5% of cases) genes, inherited in an autosomal recessive manner. We report the case of a 38-year-old woman with learning disorder from her first year of schooling, and could notice slow progressed cognitive impairment, social withdrawal, apathy, handwriting alterations, deterioration of language skills and dysphagia. Brain magnetic resonance imaging showed severe cerebellar atrophy, hypoplasia of the corpus callosum, asymmetric lateral ventricular enlargement, and severe enlargement of frontal and parietal subarachnoid spaces. Read More

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January 2020

Utility of quantitative EEG in early Lewy body disease.

Parkinsonism Relat Disord 2020 May 24;75:70-75. Epub 2020 May 24.

Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI, Department of Excellence of the Italian Ministry of University and Research), University of Genoa, Largo Daneo 3, 16132, Genoa, Italy; IRCCS Ospedale Policlinico San Martino, Largo Benzi 10, 16132, Genoa, Italy.

Introduction: The reduction of background activity and the increase of low-frequency powers on electroencephalogram (EEG) correlate with cognitive impairment and have been suggested to be underpinned by cholinergic deficit. We aimed to investigate the ratio between α and θ band power (α/θ ratio), as a synoptic index of quantitative EEG (qEEG) slowing-down, in a peculiar group of patients with mild cognitive impairment (MCI) due to an early-stage Lewy body disease (MCI-LBD), as compared to de novo PD patients without cognitive impairment (PD-MOT), to patients with MCI due to Alzheimer's disease (MCI-AD), and to healthy controls (HC).

Methods: Twelve patients with MCI-LBD (8 males; mean age 74. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2020.05.007DOI Listing

Sex-opposed inflammatory effects of 27-hydroxycholesterol are mediated via differences in estrogen signaling.

J Pathol 2020 May 29. Epub 2020 May 29.

Department of Molecular Genetics, School of Nutrition & Translational Research Maastricht (NUTRIM), Maastricht University, Maastricht, The Netherlands.

Despite the increased awareness of differences in the inflammatory response between men and women, only limited research has focused on the biological factors underlying these sex differences. The cholesterol derivative 27-hydroxycholesterol (27HC) has been shown to have opposite inflammatory effects in independent experiments using mouse models of atherosclerosis and non-alcoholic steatohepatitis (NASH), pathologies characterized by cholesterol-induced inflammation. As the sex of mice in these in vivo models differed, we hypothesized that 27HC exerts opposite inflammatory effects in males compared to females. Read More

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http://dx.doi.org/10.1002/path.5477DOI Listing

2-Hydroxypropyl-gamma-cyclodextrin overcomes NPC1 deficiency by enhancing lysosome-ER association and autophagy.

Sci Rep 2020 May 26;10(1):8663. Epub 2020 May 26.

Department of Microbiology, Immunology, and Physiology, Meharry Medical College, Nashville, TN, 37208, USA.

Niemann-Pick type C (NPC) disease is a fatal neurodegenerative disorder caused by mutations in NPC1 and NPC2 genes that result in an accumulation of cholesterol in lysosomes. The majority of children with NPC die in adolescence. Currently, no FDA-approved therapies exist for NPC and the mechanisms of NPC disease are not fully understood. Read More

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http://dx.doi.org/10.1038/s41598-020-65627-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7250861PMC
May 2020
5.078 Impact Factor

Potential COVID-19 therapeutics from a rare disease: weaponizing lipid dysregulation to combat viral infectivity.

J Lipid Res 2020 07 26;61(7):972-982. Epub 2020 May 26.

School of Biological Sciences and Centre for Biodiscovery, Victoria University of Wellington, Wellington 6012, New Zealand

The coronavirus disease 2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus (SARS-CoV)-2 has resulted in the death of more than 328,000 persons worldwide in the first 5 months of 2020. Herculean efforts to rapidly design and produce vaccines and other antiviral interventions are ongoing. However, newly evolving viral mutations, the prospect of only temporary immunity, and a long path to regulatory approval pose significant challenges and call for a common, readily available, and inexpensive treatment. Read More

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http://dx.doi.org/10.1194/jlr.R120000851DOI Listing

More than 20 Years of the Discovery of Park2: Minireview.

Authors:
Yoshikuni Mizuno

Neurosci Res 2020 May 22. Epub 2020 May 22.

Department of Neurology, Juntendo University Japan; Department of Neurology, Tokyo Clinic Japan.

Discovery of Park2 is our finding of a family of young onset parkinsonism, in which this family was thought to be associated with a polymorphism of the manganese superoxide gene. The gene locus of the manganese superoxide dismutase has been known. We were able to pick up a gene for this family and related families in the close approximate position at the long arm of chromosome 6. Read More

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http://dx.doi.org/10.1016/j.neures.2020.02.002DOI Listing

Recent advances in the treatment of Niemann pick disease type C: A mini-review.

Int J Pharm 2020 Jun 16;584:119440. Epub 2020 May 16.

Departamento de Bioquímica y Biología Molecular-A, Facultad de Biología, Universidad de Murcia - Regional Campus of International Excellence "Campus Mare Nostrum", E-30100 Murcia, Spain. Electronic address:

Niemann Pick disease Type C (NPC) is a recessive rare disease caused by the mutation on NPC1 and/or NPC2 genes changing the processing of the Low-density proteins (LDL) resulting in an accumulation of lipids in the cells. Until today there is not a cure, the current treatment is based on palliative affairs to reduce the symptoms and prevent its appearance. Among all the treatments proposed the use of cyclodextrins (CDs), nanocarriers which can complex cholesterol, is one of the most useful alternatives. Read More

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http://dx.doi.org/10.1016/j.ijpharm.2020.119440DOI Listing

Depletion of Host and Viral Sphingomyelin Impairs Influenza Virus Infection.

Front Microbiol 2020 30;11:612. Epub 2020 Apr 30.

Department of Experimental Pathology, Immunology and Microbiology, Faculty of Medicine, American University of Beirut, Beirut, Lebanon.

Influenza A virus (IAV) is a major human respiratory pathogen causing annual epidemics as well as periodic pandemics. A complete understanding of the virus pathogenesis and host factors involved in the viral lifecycle is crucial for developing novel therapeutic approaches. Sphingomyelin (SM) is the most abundant membrane sphingolipid. Read More

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http://dx.doi.org/10.3389/fmicb.2020.00612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203554PMC

Outcomes and prognostic factors for pediatric cancer patients admitted to an intensive care unit in a university hospital.

Turk J Pediatr 2020 ;62(2):252-258

Division of Pediatric Intensive Care Unit, Department of Pediatrics, Erciyes University Faculty of Medicine, Kayseri, Turkey.

Background And Objectives: The aim of this study was to investigate the factors predicting Pediatric Intensive Care Unit (PICU) mortality and the outcomes in cancer patients admitted to PICU.

Methods: We conducted a retrospective study in 48 consecutive cancer patients admitted to the PICU between January 1, 2015 and January 1, 2018. A total of 48 patients (21 males and 27 females) were enrolled in this study. Read More

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http://dx.doi.org/10.24953/turkjped.2020.02.011DOI Listing
January 2020

Longitudinal MEMRI analysis of brain phenotypes in a mouse model of Niemann-Pick Type C disease.

Neuroimage 2020 Aug 15;217:116894. Epub 2020 May 15.

Skirball Institute of Biomolecular Medicine and Department of Radiology, New York University School of Medicine, New York, NY, USA; Biomedical Imaging & Technology Graduate Program, New York University School of Medicine, USA. Electronic address:

Niemann-Pick Type C (NPC) is a rare genetic disorder characterized by progressive cell death in various tissues, particularly in the cerebellar Purkinje cells, with no known cure. Mouse models for human NPC have been generated and characterized histologically, behaviorally, and using longitudinal magnetic resonance imaging (MRI). Previous imaging studies revealed significant brain volume differences between mutant and wild-type animals, but stopped short of making volumetric comparisons of the cerebellar sub-regions. Read More

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http://dx.doi.org/10.1016/j.neuroimage.2020.116894DOI Listing

Intraovarian injection of mesenchymal stem cells improves oocyte yield and in vitro embryo production in a bovine model of fertility loss.

Sci Rep 2020 May 15;10(1):8018. Epub 2020 May 15.

Universidade Católica de Brasília, Brasília, DF, 70790-160, Brazil.

Valuable female cattle are continuously subject to follicular puncture (ovum pick-up - OPU). This technique is commonly used for in-vitro embryo production, but may result in ovarian lesion. Mesenchymal stem cells (MSC) ameliorate the function of injured tissues, but their use to treat ovarian lesions in cattle has not been established. Read More

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http://dx.doi.org/10.1038/s41598-020-64810-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229041PMC

Images of the month: Intractable vomiting and neuromyelitis optica spectrum disorder.

Clin Med (Lond) 2020 May;20(3):e20-e21

Hospital Queen Elizabeth, Kota Kinabalu, Malaysia.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory disorder of the nervous system which can be potentially debilitating. Its prevalence is estimated to be around 0.5-10 per 100,000 population with predilection towards Asians and females. Read More

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http://dx.doi.org/10.7861/clinmed.2020-0019DOI Listing
May 2020
1.685 Impact Factor

Inter-domain dynamics drive cholesterol transport by NPC1 and NPC1L1 proteins.

Elife 2020 May 15;9. Epub 2020 May 15.

Department of Biochemistry, Stanford University School of Medicine, Stanford, United States.

Transport of LDL-derived cholesterol from lysosomes into the cytoplasm requires NPC1 protein; NPC1L1 mediates uptake of dietary cholesterol. We introduced single disulfide bonds into NPC1 and NPC1L1 to explore the importance of inter-domain dynamics in cholesterol transport. Using a sensitive method to monitor lysosomal cholesterol efflux, we found that NPC1's N-terminal domain need not release from the rest of the protein for efficient cholesterol export. Read More

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http://dx.doi.org/10.7554/eLife.57089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7228765PMC

Measuring Awareness in People With Dementia: Results of a Systematic Scoping Review.

J Geriatr Psychiatry Neurol 2020 May 13:891988720924717. Epub 2020 May 13.

University of Exeter Medical School, South Cloisters, St Luke's Campus, Exeter, United Kingdom.

Background: Awareness of the diagnosis or related changes in functioning varies in people with dementia (PwD), with implications for the well-being of PwD and their carers. Measuring awareness in a clinical setting could facilitate tailored support and optimize involvement in personal health and care decisions. This scoping review aimed to identify validated methods of assessing awareness in dementia and appraise their clinical utility. Read More

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http://dx.doi.org/10.1177/0891988720924717DOI Listing

Quantitative structure-activity relationship (QSAR) and design of novel ligands that demonstrate high potency and target selectivity as protein tyrosine phosphatase 1B (PTP 1B) inhibitors as an effective strategy used to model anti-diabetic agents.

J Recept Signal Transduct Res 2020 May 12:1-20. Epub 2020 May 12.

Ahmadu Bello University, Zaria, Nigeria.

Diabetes and obesity have increased dramatically in recent decades worldwide. Diabetes mainly emerged as a major health care burden disease in both the US and other industrialized countries, among which type II diabetes is the most common. Discovering new and effective treatments for diabetes is currently a high international health priority. Read More

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http://dx.doi.org/10.1080/10799893.2020.1759092DOI Listing

Elective surgery cancellations due to the COVID-19 pandemic: global predictive modelling to inform surgical recovery plans.

Authors:

Br J Surg 2020 May 12. Epub 2020 May 12.

Background: The COVID-19 pandemic has disrupted routine hospital services globally. This study estimated the total number of adult elective operations that would be cancelled worldwide during the 12 weeks of peak disruption due to COVID-19.

Methods: A global expert response study was conducted to elicit projections for the proportion of elective surgery that would be cancelled or postponed during the 12 weeks of peak disruption. Read More

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http://dx.doi.org/10.1002/bjs.11746DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272903PMC

Selective Degradation Permits a Feedback Loop Controlling Annexin A6 and Cholesterol Levels in Endolysosomes of NPC1 Mutant Cells.

Cells 2020 May 7;9(5). Epub 2020 May 7.

Departament de Biomedicina, Unitat de Biologia Cel·lular, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, 08036 Barcelona, Spain.

We recently identified elevated annexin A6 (AnxA6) protein levels in Niemann-Pick-type C1 (NPC1) mutant cells. In these cells, AnxA6 depletion rescued the cholesterol accumulation associated with NPC1 deficiency. Here, we demonstrate that elevated AnxA6 protein levels in NPC1 mutants or upon pharmacological NPC1 inhibition, using U18666A, were not due to upregulated AnxA6 mRNA expression, but caused by defects in AnxA6 protein degradation. Read More

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http://dx.doi.org/10.3390/cells9051152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291204PMC

Intertwined mechanisms define transport of anti-ICAM nanocarriers across the endothelium and brain delivery of a therapeutic enzyme.

J Control Release 2020 May 7;324:181-193. Epub 2020 May 7.

Institute for Bioscience and Biotechnology Research (IBBR) and Fischell Department of Bioengineering, University of Maryland, College Park, MD 20742-4450, USA; Institute for Bioengineering of Catalonia (IBEC) of the Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain; Institution of Catalonia for Research and Advanced Studies (ICREA), Barcelona 08910, Spain. Electronic address:

The interaction of drug delivery systems with tissues is key for their application. An example is drug carriers targeted to endothelial barriers, which can be transported to intra-endothelial compartments (lysosomes) or transcellularly released at the tissue side (transcytosis). Although carrier targeting valency influences this process, the mechanism is unknown. Read More

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http://dx.doi.org/10.1016/j.jconrel.2020.05.009DOI Listing

Pre-mRNA splicing defects and RNA binding protein involvement in Niemann Pick type C disease.

J Biotechnol 2020 Jul 6;318:20-30. Epub 2020 May 6.

Molecular Pathology, International Institute for Genetic Engineering and Biotechnology, Trieste, Italy. Electronic address:

Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disorder due to mutations in NPC1 (95 % cases) or NPC2 genes, encoding NPC1 and NPC2 proteins, respectively. Both NPC1 and NPC2 proteins are involved in transport of intracellular cholesterol and their alteration leads to the accumulation of unesterified cholesterol and other lipids within the lysosomes. The disease is characterized by visceral, neurological and psychiatric symptoms. Read More

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http://dx.doi.org/10.1016/j.jbiotec.2020.03.012DOI Listing