keyword
https://read.qxmd.com/read/34285875/plasma-lyso-sphingomyelin-levels-are-positively-associated-with-clinical-severity-in-acid-sphingomyelinase-deficiency
#21
JOURNAL ARTICLE
Margo Sheck Breilyn, Wenyue Zhang, Chunli Yu, Melissa P Wasserstein
INTRODUCTION: A reliable biomarker is urgently needed in the diagnosis and management of acid sphingomyelinase deficiency (ASMD, also known as Niemann Pick A, A/B, and B). Lyso-sphingomyelin (LSM) has previously been proposed as a biomarker for this disease. However, existing studies have not investigated the relationship between LSM levels and clinical subtype or severity. The purpose of this study is to address this gap in knowledge. MATERIAL AND METHODS: We present a cross-sectional study of 28 patients with ASMD, enrolled in an ongoing natural history study at the Icahn School of Medicine at Mount Sinai and The Children's Hospital at Montefiore...
September 2021: Molecular Genetics and Metabolism Reports
https://read.qxmd.com/read/34150357/longitudinal-data-in-patients-with-niemann-pick-type-c-disease-under-combined-high-intrathecal-and-low-intravenous-dose-of-2-hydroxylpropyl-%C3%AE-cyclodextrin
#22
Evangelia Bountouvi, Melpomeni Giorgi, Anna Papadopoulou, Kaj Blennow, Ingemar Björkhem, Maria Tsirouda, Spyridon Kanellakis, Andreas Fryganas, Maria Spanou, Ioanna Georgaki, Sofia Asprogeraka, Argyrios Dinopoulos
Niemann-Pick Type C disease (NPC) is a rare, incurable, autosomal-recessive, lysosomal storage disorder with protean and progressive neurovisceral manifestations characterized by accumulation of intracellular unesterified cholesterol. The investigational use of 2-hydroxypropyl-beta-cyclodextrin (HP-β-CD) in the treatment of NPC has shown promising results in improving life expectancy and reducing neurological damage in this patient population. This case report describes two children with the neurological form of NPC: a 5-year-old male patient in advanced stage of the disease and an 11-year-old female patient in moderately advanced stage...
January 2021: Innovations in Clinical Neuroscience
https://read.qxmd.com/read/33971920/prospective-study-of-the-natural-history-of-chronic-acid-sphingomyelinase-deficiency-in-children-and-adults-eleven-years-of-observation
#23
JOURNAL ARTICLE
Margaret M McGovern, Melissa P Wasserstein, Bruno Bembi, Roberto Giugliani, K Eugen Mengel, Marie T Vanier, Qi Zhang, M Judith Peterschmitt
BACKGROUND: Acid sphingomyelinase deficiency (ASMD) (also known as Niemann-Pick disease types A and B) is a rare and debilitating lysosomal storage disorder. This prospective, multi-center, multinational longitudinal study aimed to characterize the clinical features of chronic forms of ASMD and disease burden over time in children and adults. RESULTS: Fifty-nine patients (31 males/28 females) ranging in age from 7 to 64 years with chronic ASMD types A/B and B and at least two disease symptoms participated from 5 countries...
May 10, 2021: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/33844190/wearable-technologies-for-children-with-chronic-illnesses-an-exploratory-approach
#24
JOURNAL ARTICLE
Flora McErlane, Elin Haf Davies, Cecile Ollivier, Anna Mayhew, Obuchinezia Anyanwu, Victoria Harbottle, Aimee Donald
OBJECTIVE: To determine the utility of wearable technologies in physical activity assessment in three paediatric diseases, namely, Niemann-Pick C (NP-C), Juvenile Idiopathic Arthritis (JIA) and Duchenne Muscular Dystrophy (DMD). DESIGN: Exploratory study SETTING AND PATIENTS: Thirty children were recruited across three UK hospitals (Royal Manchester's Children Hospital, Great Ormond Street Children's Hospital, and the Great North Children's Hospital). Ten were diagnosed with NP-C, eight with DMD and twelve with JIA...
July 2021: Therapeutic Innovation & Regulatory Science
https://read.qxmd.com/read/33490609/clinicohistological-correlation-of-etiological-spectrum-of-chronic-liver-disease-diagnosed-during-noncirrhotic-stages-in-children-can-need-of-liver-biopsy-be-obviated
#25
JOURNAL ARTICLE
Tryambak Samanta, Rajarshi Basu, Radheshyam Purkait, Sudipta Kar, Debasis Das, Sutapa Ganguly
BACKGROUND AND AIM: Limited data exist regarding the etiological spectrum of the subset of chronic liver diseases (CLDs) diagnosed in noncirrhotic states in children. Our primary objective was to study the clinicoetiological profile of CLDs detected in noncirrhotic stages in children younger than 12 years of age. The secondary objective was to find the hepatic histological correlation of provisional diagnosis by different ranks of doctors. METHODS: This was an observational epidemiological study, cross-sectional in design, conducted in a tertiary-care setting over a 2-year period...
January 2021: JGH Open: An Open Access Journal of Gastroenterology and Hepatology
https://read.qxmd.com/read/33476544/-clinical-characteristics-and-gene-variants-of-patients-with-infantile-intrahepatic-cholestasis
#26
JOURNAL ARTICLE
Mei-Juan Wang, Xue-Mei Zhong, Xin Ma, Hui-Juan Ning, Dan Zhu, You-Zhe Gong, Meng Jin
OBJECTIVE: To explore the clinical characteristics and genetic findings of patients with infantile intrahepatic cholestasis. METHODS: The clinical data were collected in children who were admitted to the Department of Gastroenterology in Children's Hospital, Capital Institute of Pediatrics from June 2017 to June 2019 and were suspected of inherited metabolic diseases. Next generation sequencing based on target gene panel was used for gene analysis in these children...
January 2021: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://read.qxmd.com/read/33274430/-nursing-experience-of-a-child-with-difficulty-breathing-with-end-stage-niemann-pick-disease-type-c
#27
JOURNAL ARTICLE
Ying-Chu Chen, Su-Jung Chen, Mei-Chih Huang
This case report describes a nursing experience providing end-of-life care to a child with Niemann-Pick disease type C. The period of nursing care was from April to June 2018. After comprehensive nursing and family assessment, dyspnea and caregiver's role strain were identified as the primary nursing-care problems. Niemann-Pick is a rare disease caused by genomic abnormalities. Patients with this disease are unable to metabolize lipids, which accumulate in organs, causing hepatosplenomegaly, dyspnea, and central nervous system degeneration...
December 2020: Hu Li za Zhi the Journal of Nursing
https://read.qxmd.com/read/33142201/the-improvement-in-diagnosis-and-epilepsy-managing-in-children-with-progressive-myoclonus-epilepsy-during-the-last-decade-a-tertiary-center-experience-in-cohort-of-51-patients
#28
JOURNAL ARTICLE
Ruzica Kravljanac, Biljana Vucetic Tadic, Maja Djordjevic, Tanja Lalic, Djordje Kravljanac, Ivana Cerovic
UNLABELLED: The aim of the study was to explore whether diagnosis and managing children with progressive myoclonus epilepsy (PME) were improved during the last decade. METHODS: The retrospective study included children with PME treated in the Institute during the last 25 years. Investigation time was divided in two periods (groups): before December 2010 (the first group) and after this period up to December 2019 (the second group). Inclusion criteria are as follows: patients aged from 0...
December 2020: Epilepsy & Behavior: E&B
https://read.qxmd.com/read/33079236/visualisation-of-cholesterol-and-ganglioside-gm1-in-zebrafish-models-of-niemann-pick-type-c-disease-and-smith-lemli-opitz-syndrome-using-light-sheet-microscopy
#29
JOURNAL ARTICLE
Sophie R Cook, Cerys Bladen, Johanna Smith, Emily Maguire, Jordan Copner, Gareth D Fenn, Kim Wager, Helen Waller-Evans, Emyr Lloyd-Evans
Lysosomal storage diseases are the most common cause of neurodegeneration in children. They are characterised at the cellular level by the accumulation of storage material within lysosomes. There are very limited therapeutic options, and the search for novel therapies has been hampered as few good small animal models are available. Here, we describe the use of light sheet microscopy to assess lipid storage in drug and morpholino induced zebrafish models of two diseases of cholesterol homeostasis with lysosomal dysfunction: First, Niemann-Pick type C disease (NPC), caused by mutations in the lysosomal transmembrane protein NPC1, characterised by intralysosomal accumulation of cholesterol and several other lipids...
November 2020: Histochemistry and Cell Biology
https://read.qxmd.com/read/32933368/secondary-narcolepsy-in-children
#30
JOURNAL ARTICLE
Riya Madan, Jennifer Pitts, Marc C Patterson, Robin Lloyd, Gesina Keating, Suresh Kotagal
Secondary narcolepsy occurs as a consequence of lesions involving the hypothalamic region that subserve wakefulness. Although observations on the characteristics of secondary narcolepsy have been published in adults, information on this topic in children is sparse. This is a retrospective study of characteristics and outcome of secondary narcolepsy in children. The medical records of 10 children with this condition at Mayo Clinic, Rochester, were reviewed. Characteristics of the underlying neurologic disorder, narcolepsy subtype, multiple sleep latency tests, medications used and outcome were extracted...
February 2021: Journal of Child Neurology
https://read.qxmd.com/read/32779865/substrate-reduction-therapy-with-miglustat-in-pediatric-patients-with-gm1-type-2-gangliosidosis-delays-neurological-involvement-a-multicenter-experience
#31
JOURNAL ARTICLE
Rita Fischetto, Valentina Palladino, Maria M Mancardi, Thea Giacomini, Stefano Palladino, Alberto Gaeta, Maja Di Rocco, Lucia Zampini, Giuseppe Lassandro, Vito Favia, Maria E Tripaldi, Pietro Strisciuglio, Alfonso Romano, Mariasavina Severino, Amelia Morrone, Paola Giordano
BACKGROUND: In GM1 gangliosidosis the lack of function of β-galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. In the type 2 form of the disease, early intervention would be important to avoid precocious complications. To date, there are no effective therapeutic options in preventing progressive neurological deterioration. Substrate reduction therapy with Miglustat, a N-alkylated sugar that inhibits the enzyme glucosylceramide synthase, has been proposed for the treatment of several lysosomal storage disorders such as Gaucher type 1 and Niemann Pick Type C diseases...
August 11, 2020: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/32778503/-a-novel-mutation-in-two-spanish-children-with-the-niemann-pick-disease-description-of-genotype-acid-sphingomyelinase-activity-phenotype-and-review
#32
Pablo Del Villar-Guerra, Celia Reig, Pilar Irún, Blanca Moreno, Pilar Giraldo, Jorge J Cebolla
No abstract text is available yet for this article.
August 7, 2020: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://read.qxmd.com/read/32457374/2-hydroxypropyl-gamma-cyclodextrin-overcomes-npc1-deficiency-by-enhancing-lysosome-er-association-and-autophagy
#33
JOURNAL ARTICLE
Ashutosh Singhal, Evan S Krystofiak, W Gray Jerome, Byeongwoon Song
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. Our recent study and the reports from other laboratories showed that 2-hydroxypropyl-γ-cyclodextrin (HPγCD) alleviates cholesterol accumulation in NPC1-deficient cells in spite of its low binding affinity for cholesterol...
May 26, 2020: Scientific Reports
https://read.qxmd.com/read/32351165/long-term-normalization-of-cognitive-and-psychopathological-alterations-in-a-juvenile-niemann-pick-type-c-case
#34
JOURNAL ARTICLE
María de la Concepción Fournier Del Castillo, Silvia Cámara Barrio, Borja Esteso Orduña, Izaskun Basterra Jiménez, Laura López Marín, Verónica Cantarín Extremera, Luis González Gutiérrez-Solana
Niemann-Pick type C (NP-C) disease is a neurovisceral atypical lysosomal lipid storage disorder with a poor prognosis. We present the 5-year neuropsychological follow-up of a patient with juvenile onset NP-C, spanning the pre-diagnostic stage to the period after treatment with miglustat (Actelion Pharmaceuticals Inc., CA, US). In the initial stages of the disease, the patient presented behavioral dysexecutive symptoms resembling those frequently observed in adult-onset forms and frontotemporal dementia, which frequently makes early diagnosis difficult in children...
April 30, 2020: Neurodegenerative Disease Management
https://read.qxmd.com/read/32311413/novel-mutations-in-the-smpd1-gene-in-jordanian-children-with-acid-sphingomyelinase-deficiency-niemann-pick-types-a-and-b
#35
JOURNAL ARTICLE
Laith Al-Eitan, Kifah Alqa'qa', Wajdi Amayreh, Hanan Aljamal, Rame Khasawneh, Batool Al-Zoubi, Israa Okour, Amany Haddad, Yazan Haddad, Hazem Haddad
Acid sphingomyelinase (ASM) deficiency (ASMD) is a spectrum that includes Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). ASMD is characterized by intracellular accumulation of unesterified cholesterol and gangliosides within the endosomal-lysosomal system. It is caused by different mutations in SMPD1 gene that result in reduction or complete absence of acid sphingomyelinase activity in the cells. Herein, four unrelated consanguineous families with two NPD A and three NPD B patients were assessed for their genotypes via sequencing of the SMPD1 gene and their acid sphingomyelinase enzymatic activity...
April 17, 2020: Gene
https://read.qxmd.com/read/32292456/mutational-spectrum-of-smpd1-gene-in-pakistani-niemann-pick-disease-patients
#36
JOURNAL ARTICLE
Huma Arshad Cheema, Iqra Ghulam Rasool, Muhammad Nadeem Anjum, Muhammad Yasir Zahoor
Objective: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. Methods: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-Pick disease through targeted exome sequencing. Genetic variants mapping and their protein predictions were evaluated using different bioinformatics tools and clinical phenotypes were correlated. The study was conducted from January 2018 to March 2019 at The Children's Hospital Lahore...
March 2020: Pakistan Journal of Medical Sciences Quarterly
https://read.qxmd.com/read/32073546/neurodevelopmental-characterization-of-young-children-diagnosed-with-niemann-pick-disease-type-c1
#37
JOURNAL ARTICLE
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 neurological onset, including neurodevelopmental delays, in children with NPC1. This dearth of information hinders the planning and implementation of adequate monitoring and treatment for the neurodevelopmental sequelae of NPC1...
February 17, 2020: Journal of Developmental and Behavioral Pediatrics: JDBP
https://read.qxmd.com/read/31901314/ocular-manifestations-of-liver-disease-in-children-clinical-aspects-and-implications
#38
REVIEW
Durga Prasad, Arpita Bhriguvanshi
Liver and eyes are interlinked to each other in various medical conditions. There are certain ocular findings which directly indicate specific liver disorders. Thus, it becomes critical to identify disorders of liver and eyes early in the course of illness, so that prompt management may be initiated before the commencement of complications. It is highly advantageous in metabolic liver disorders as it offers prognostic value and spares the patient of unnecessary invasive and detailed work up. However, due to its silent and heterogeneous presentation, it is often unrecognized and ignored...
November 2020: Annals of Hepatology
https://read.qxmd.com/read/31900039/use-of-electron-microscopy-when-screening-liver-biopsies-from-neonates-and-infants-experience-from-a-single-tertiary-children-s-hospital-1991-2017
#39
JOURNAL ARTICLE
Mikako Warren, Mai Shimura, Eric P Wartchow, Shoji Yano
Background : Although the role of electron microscopy is diminishing in several areas of adult pathology, it remains an essential tool for the study of pediatric liver biopsies. Methods : Clinical charts, histologic slides and EM materials of native liver biopsies from patients <1 year old (1991-2017) were reviewed. Results : 677 biopsies were performed on 353 males and 324 females. This study presents the concrete numbers for both the indications and the diseases, and describes the role of EM. EM was performed on 24...
January 2, 2020: Ultrastructural Pathology
https://read.qxmd.com/read/31843253/pediatric-liver-diseases-and-ocular-changes-what-hepatologists-and-ophthalmologists-should-know-and-share-with-each-other
#40
REVIEW
Livio Vitiello, Maddalena De Bernardo, Salvatore Guercio Nuzio, Claudia Mandato, Nicola Rosa, Pietro Vajro
Several rare pediatric liver disorders are accompanied by ophthalmic signs whose awareness and early identification may be of value in confirming/accelerating their diagnosis. Many of these signs are asymptomatic and can only be detected with an ophthalmological examination. Corneal signs are described in patients with Wilson's disease, Alagille's syndrome and some liver storage diseases. Cataract plays an important role to diagnose galactosemia. Retinal involvement is seen in some peroxisomal disorders (e...
January 2020: Digestive and Liver Disease
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