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Statins interfere with the attachment of S. cerevisiae mtDNA to the inner mitochondrial membrane.

Angela Cirigliano, Antonia Amelina, Beatrice Biferali, Alberto Macone, Chiara Mozzetta, Michele Maria Bianchi, Mattia Mori, Bruno Botta, Elah Pick, Rodolfo Negri, Teresa Rinaldi,

The 3-hydroxy-3-methylglutaryl-CoA reductase, a key enzyme of the mevalonate pathway for the synthesis of cholesterol in mammals (ergosterol in fungi), is inhibited by statins, a class of cholesterol lowering drugs. Indeed, statins are in a wide medical use, yet statins treatment could induce side effects as hepatotoxicity and myopathy in ... Read more >>

J Enzyme Inhib Med Chem (Journal of enzyme inhibition and medicinal chemistry)
[2020, 35(1):129-137]

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Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1.

Niamh X Cawley, Anna T Lyons, Daniel Abebe, Christopher A Wassif, Forbes D Porter,

Niemann-Pick disease, type C1, is a cholesterol storage disease where unesterified cholesterol accumulates intracellularly. In the cerebellum this causes neurodegeneration of the Purkinje neurons that die in an anterior-to-posterior and time-dependent manner. This results in cerebellar ataxia as one of the major outcomes of the disease. Proprotein convertase subtilisin/kexin type ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(7):]

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Multimodality approach to the diagnosis and management of constrictive pericarditis.

Kianoush Ansari-Gilani, Robert C Gilkeson, Elias G Kikano, Brian D Hoit,

Despite advances in cardiovascular imaging, the diagnosis of constrictive pericarditis remains challenging. A multimodality approach to the diagnosis of CP is essential to (a) fully assess the extent of pericardial thickening and calcification, (b) detect the functional and hemodynamic consequences of the constricting pericardium, and (c) implement the optimal management ... Read more >>

Echocardiography (Echocardiography (Mount Kisco, N.Y.))
[2020, :]

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Recessive Ataxia Differential Diagnosis Algorithm (RADIAL) Versus Specific Niemann-Pick Type C Suspicion Indices: A Retrospective Algorithm Comparison.

Mathieu Anheim, Juan V Torres Martin, Stefan A Kolb,

Early diagnosis of Niemann-Pick disease type C (NPC) is crucial to slow the progression of neurological manifestations. Different tools were developed to aid diagnosis of NPC, but to date, no study has compared their performance. We aimed to compare the RADIAL algorithm, intended for the differential diagnosis of autosomal recessive ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, 19(2):243-251]

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A Rare Case of Late Adult-Onset Niemann-Pick Disease Type C.

Ryul Kim, Dallah Yoo, Sangmin Park, Jung Hwan Shin, Ji-Hyun Choi, Han-Joon Kim, Beomseok Jeon,

J Mov Disord (Journal of movement disorders)
[2020, :]

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First person – Jorge Rodriguez-Gil.

ABSTRACTFirst Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers. Jorge Rodriguez-Gil is first author on ‘Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick ... Read more >>

Dis Model Mech (Disease Models & Mechanisms)
[2020, 13(3):]

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Clinical, ocular motor, and imaging profile of Niemann-Pick type C heterozygosity.

Tatiana Bremova-Ertl, Clara Sztatecsny, Matthias Brendel, Marlene Moser, Bettina Möller, Dirk A Clevert, Stefanie Beck-Wödl, Celia Kun-Rodrigues, Jose Bras, Axel Rominger, Dimitar Ninov, Michael Strupp, Susanne A Schneider,

OBJECTIVE:To characterize subclinical abnormalities in asymptomatic heterozygote NPC1 mutation carriers as markers of neurodegeneration. METHODS:Motor function, cognition, mood, sleep, and smell function were assessed in 20 first-degree heterozygous relatives of patients with Niemann-Pick disease type C (NPC) (13 male, age 52.7 ± 9.9 years). Video-oculography and abdominal ultrasound with volumetry ... Read more >>

Neurology (Neurology)
[2020, :]

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A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 Gangliosidoses, and Ataxia Telangiectasia

Taylor Fields, Marc Patterson, Tatiana Bremova, Glyn Belcher, Ian Billington, Grant Churchill, William Davis, William Evans, Susan Flint, Antony Galione, Ulrich Granzer, Julia Greenfield, Rick Karl, Richard Kay, Dan Lewi, Toni Mathieson, Thorsten Meyer, Diana Pangonis, Frances Platt, Lincoln Tsang, Christa Verburg, Mallory Factor, Michael Strupp,

Background: The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development process more feasible and appropriate for these rare populations, and thereby expedite the approval of ... Read more >>

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The effect of colchicine on the echocardiographic constrictive physiology after coronary artery bypass graft surgery.

Maryam Shojaeifard, Marzieh Pakbaz, Reza Beheshti, Freidoun Noohi Bezanjani, Hassan Ahangar, Sepehr Gohari, Hossein Dehghani Mohammad Abadi, Sajad Erami,

BACKGROUND:Constrictive physiology is a transitory condition that could lead to constrictive pericarditis, which is a rare complication after open-heart surgery. Anti-inflammatory drugs like colchicine are recommended for prevention of constrictive pericarditis; however, there is no evidence about the effect of colchicine on constrictive pericarditis. Thus, the aim of this study ... Read more >>

Echocardiography (Echocardiography (Mount Kisco, N.Y.))
[2020, 37(3):399-403]

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Cholestane-3β, 5α, 6β-triol: Further insights into the performance of this oxysterol in diagnosis of Niemann-Pick disease type C.

J A Cooper, H J Church, H Y Wu,

In recent years the oxysterol species cholestane-3β, 5α, 6β-triol (C-triol) has found application as a diagnostic biomarker for Niemann-Pick disease type C. Other studies have described increased C-triol in patients with Niemann-Pick disease type A/B and milder increases in lysosomal acid lipase deficiency (LALD), whereas they note normal C-triol levels ... Read more >>

Mol. Genet. Metab. (Molecular genetics and metabolism)
[2020, :]

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Iron chelation by deferiprone does not rescue the Niemann-Pick Disease Type C1 mouse model.

Ya Hui Hung, Amit Lotan, Shlomo Yeshurun, Anna Schroeder, Ashley I Bush,

Niemann-Pick Disease Type C (NP-C) is a fatal lysosomal storage disorder with progressive neurodegeneration. In addition to the characteristic cholesterol and lipid overload phenotype, we previously found that altered metal homeostasis is also a pathological feature. Increased brain iron in the Npc1-/- mouse model of NP-C may potentially contribute to ... Read more >>

Biometals (Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine)
[2020, :]

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Variants in the Niemann-Pick type C gene NPC1 are not associated with Parkinson's disease

Bouchra Ouled Amar Bencheikh, Konstantin Senkevich, Uladzislau Rudakou, Eric Yu, Kheireddin Mufti, Jennifer Ruskey, Farnaz Asayesh, Sandra Laurent, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Alberto Espay, Nicolas Dupre, Lior Greenbaum, Sharon Hassin-Baer, Guy Rouleau, Roy Alcalay, Edward Fon, Ziv Gan-Or,

Biallelic variants in NPC1, a lysosomal gene coding for a transmembrane protein involved in cholesterol trafficking, may cause Niemann-Pick disease type C (NPC). A few cases of NPC1 mutation carriers have been reported with a Parkinson's disease (PD) presentation. In addition, pathological studies demonstrated phosphorylated alpha-synuclein and Lewy pathology in ... Read more >>

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An induced pluripotent stem cell line (TRNDi001-D) from a Niemann-Pick disease type C1 (NPC1) patient carrying a homozygous p. I1061T (c. 3182T>C) mutation in the NPC1 gene.

Rong Li, Manisha Pradhan, Miao Xu, Amanda Roeder, Jeanette Beers, Jizhong Zou, Chengyu Liu, Forbes D Porter, Wei Zheng,

Niemann-Pick disease, type C (NPC) is a rare autosomal recessive genetic disease caused by mutations in either NPC1 or NPC2, which encodes an intracellular cholesterol-binding protein in lysosome. Deficiency of either NPC1 or NPC2 protein results in malfunction of intracellular cholesterol trafficking and lysosomal accumulation of unesterified cholesterols. A human ... Read more >>

Stem Cell Res (Stem cell research)
[2020, 44:101737]

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Evaluation of Long-Term Impact of Pericardiectomy on Left Atrial Functions in Patients with Constrictive Pericarditis Using Speckle Tracking Echocardiography.

Li Li, You-Bin Deng, Ling-Dan Guo, Kun Liu, Jun Zhang, Qiao-Ying Tang,

The aims of this study were to explore the long-term impact of pericardiectomy on left atrial (LA) functions in patients with constrictive pericarditis (CP) using speckle tracking echocardiography (STE) and to correlate post-operative LA functions with clinical status. Echocardiographic examinations were undertaken in 29 patients with CP 1 wk before ... Read more >>

Ultrasound Med Biol (Ultrasound in medicine & biology)
[2020, 46(5):1158-1168]

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Constrictive pericarditis masquerading as hepatic sequestration crisis in a patient with sickle cell disease: a case report.

Zafraan Zathar, Sunil James, Nickki Pressler, Emily Ho,

Background:Constrictive pericarditis is a challenging diagnosis that is easily overlooked. Worldwide, tuberculosis (TB) is the leading cause; however, in the developed countries pericarditis and cardiac surgery are common aetiologies. Medical therapy can be sufficient in specific aetiologies preventing progression of constriction and thus surgery. Case summary:A young student from Nigeria, ... Read more >>

Eur Heart J Case Rep (European heart journal. Case reports)
[2020, 4(1):1-5]

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Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1.

Audrey Thurm, Colby Chlebowski, Lisa Joseph, Cristan Farmer, Dee Adedipe, Madison Weiss, Edythe Wiggs, Nicole Farhat, Simona Bianconi, Elizabeth Berry-Kravis, Forbes D Porter,

OBJECTIVE:Niemann-Pick disease type C1 (NPC1) is a lysosomal storage disease characterized by progressive neurodegeneration, with the age of diagnosis ranging from the prenatal period through adulthood. Although neurological symptoms usually precede genetic diagnosis, they do not necessarily prompt diagnosis in the early years. Few prospective data are available to describe ... Read more >>

J Dev Behav Pediatr (Journal of developmental and behavioral pediatrics : JDBP)
[2020, :]

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Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study.

Huda B Al-Kouatly, Laura Felder, Mona M Makhamreh, Stephanie L Kass, Neeta L Vora, Vincenzo Berghella, Seth Berger, David A Wenger, Paola Luzi,

OBJECTIVES:Nonimmune hydrops fetalis (NIHF) accounts for 90% of hydrops fetalis cases. About 15% to 29% of unexplained NIHF cases are caused by lysosomal storage diseases (LSD). We review the spectrum of LSD and associated clinical findings in NIHF in a cohort of patients referred to our institution. METHODS:We present a ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2020, :]

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Complement Component C3 Participates in Early Stages of Niemann-Pick C Mouse Liver Damage.

Andrés D Klein, Javier González de la Vega, Silvana Zanlungo,

Niemann-Pick type C (NPC), a lysosomal storage disorder, is mainly caused by mutations in the NPC1 gene. Niemann-Pick type C patients and mice show intracellular cholesterol accumulation leading to hepatic failure with increased inflammatory response. The complement cascade, which belongs to the innate immunity response, recognizes danger signals from injured ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(6):]

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No indications for overt innate immune suppression in critically ill COVID-19 patients

Matthijs Kox, Tim Frenzel, Jeroen Schouten, Frank van de Veerdonk, Hans J.P.M. Koenen, Peter Pickkers, ,

At the end of March 2020, there were in excess of 800.000 confirmed cases of coronavirus disease 2019 (COVID-19) worldwide. Several reports suggest that, in severe cases, COVID-19 may cause a hyperinflammatory 'cytokine storm'. However, unlike SARS-CoV infection, high levels of anti-inflammatory mediators have also been reported in COVID-19 patients. ... Read more >>

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Retinal axonal degeneration in Niemann-Pick type C disease.

Joachim Havla, Marlene Moser, Clara Sztatecsny, Amelie S Lotz-Havla, Esther M Maier, Baccara Hizli, Regina Schinner, Tania Kümpfel, Michael Strupp, Tatiana Bremova-Ertl, Susanne A Schneider,

OBJECTIVE:Niemann-Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), ... Read more >>

J. Neurol. (Journal of neurology)
[2020, :]

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A case of recurrent constrictive pericarditis induced by pericardial substitution with an expanded polytetrafluoroethylene membrane.

Shunsuke Taguchi, Tessho Kitamura, Seiji Matsukuma, Tomohiro Odate, Tsuneo Ariyoshi, Masayoshi Hamawaki, Chieko Otsubo, Hirokazu Kurohama, Yumi Mihara,

A 72-year-old man presented with recurrent constrictive pericarditis, which developed 6 months after pericardiectomy, and pericardial substitution with an expanded polytetrafluoroethylene membrane. Re-pericardiectomy was performed. A new thick membranous structure had grown under the expanded polytetrafluoroethylene membrane anterior to the right ventricle, and was firmly adhered to the epicardium. This new ... Read more >>

Gen Thorac Cardiovasc Surg (General thoracic and cardiovascular surgery)
[2020, :]

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Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Dita Musalkova, Filip Majer, Ladislav Kuchar, Ondrej Luksan, Befekadu Asfaw, Hana Vlaskova, Gabriela Storkanova, Martin Reboun, Helena Poupetova, Helena Jahnova, Helena Hulkova, Jana Ledvinova, Lenka Dvorakova, Jakub Sikora, Milan Jirsa, Marie T Vanier, Martin Hrebicek,

BACKGROUND:Niemann-Pick type C (NP-C) is a rare neurovisceral genetic disorder caused by mutations in the NPC1 or the NPC2 gene. NPC1 is a multipass-transmembrane protein essential for egress of cholesterol from late endosomes/lysosomes. To evaluate impacts of NPC1 mutations, we examined fibroblast cultures from 26 NP-C1 patients with clinical phenotypes ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2020, 15(1):85]

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Multimodality imaging in patients with post-cardiac injury syndrome.

Beni R Verma, Michael Chetrit, James L Gentry Iii, Andrew Noll, Ahmed Bafadel, Mohamed Khayata, Serge C Harb, Bo Xu, Apostolos Kontzias, Deborah H Kwon, Christine Jellis, Allan L Klein,

This review article is focused on the role of echocardiography, cardiac CT and cardiac magnetic resonance (CMR) imaging in diagnosing and managing patients with post-cardiac injury syndrome (PCIS). Clinically, the spectrum of pericardial diseases under PCIS varies not only in form and severity of presentation but also in the timing ... Read more >>

Heart (Heart (British Cardiac Society))
[2020, :]

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Breaking hearts and taking names: A case of sarcoidosis related effusive-constrictive pericarditis.

Ramon Valentin, Ellen C Keeley, Ali Ataya, Diana Gomez-Manjarres, John Petersen, George J Arnaoutakis, Peter Drew, Matt Barnes, Divya C Patel,

INTRODUCTION:Pericardial involvement of sarcoidosis is a rare cause for acute heart failure, and usually occurs as a result of the development of a pericardial effusion leading to cardiac tamponade. Even rarer still, is the manifestation of constrictive pericarditis. We report a case of sarcoidosis with lung, pleural, and pericardial involvement ... Read more >>

Respir Med (Respiratory medicine)
[2020, 163:105879]

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The Clinical Course of Tuberculous Pericarditis in Immunocompetent Hosts Based on Serial Echocardiography.

Min Sun Kim, Sung A Chang, Eun Kyoung Kim, Jin Oh Choi, Sung Ji Park, Sang Chol Lee, Seung Woo Park, Jae K Oh,

BACKGROUND AND OBJECTIVES:In East Asia, tuberculous pericarditis still occurs in immunocompetent patients. We aimed to investigate clinical course of tuberculous pericarditis and the trends of echocardiographic parameters for constrictive pericarditis. METHODS:We retrospectively analyzed medical records of patients with tuberculous pericarditis between January 2010 and January 2017 in Samsung Medical Center. ... Read more >>

Korean Circ J (Korean circulation journal)
[2020, :]

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