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Wolman's Disease

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https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#1
Francis Aguisanda, Charles D Yeh, Catherine Z Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
BACKGROUND: Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no small-molecule drug treatment for WD. RESULTS: We have generated induced pluripotent stem cells (iPSCs) from two WD patient dermal fibroblast lines and subsequently differentiated them into neural stem cells (NSCs)...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28653562/mcgill-thyroid-nodule-score-in-differentiating-benign-and-malignant-pediatric-thyroid-nodules-a-pilot-study
#2
Michael Canfarotta, Douglas Moote, Christine Finck, Rebecca Riba-Wolman, Shefali Thaker, Trudy J Lerer, Richard J Payne, Valerie Cote
Objective The McGill Thyroid Nodule Score (MTNS) is a preoperative tool used to predict the risk for well-differentiated thyroid cancer given a specific nodule in adults. We evaluated the clinical utility of a modified pediatric MTNS with children and adolescents. Study Design Case series with chart review. Setting Tertiary care children's hospital. Subjects and Methods This is a retrospective chart review of 46 patients ≤18 years of age presenting with a solitary or dominant thyroid nodule treated with surgical resection between September 2008 and December 2015...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28538091/wolman-disease-a-mimic-of-infant-leukemia
#3
Kaduveettil G Gopakumar, Priyakumari Thankamony, Sheela Nampoothiri, Deeksha Bali, Jubie Raj, Jayasudha A Vasudevan, Ramachandran K Nair
BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management. OBSERVATION: An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c...
May 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28456990/prenatal-diagnosis-of-lysosomal-storage-disorders-using-chorionic-villi
#4
Jyotsna Verma, Sunita Bijarnia-Mahay, Ishwar C Verma
Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28420705/synthesis-of-neutral-ether-lipid-monoalkyl-diacylglycerol-by-lipid-acyltransferases
#5
Zhengping Ma, Joelle M Onorato, Luping Chen, David W Nelson, Chi-Liang Eric Yen, Dong Cheng
In mammals, ether lipids exert a wide spectrum of signaling and structural functions, such as stimulation of immune responses, anti-tumor activities, and enhancement of sperm functions. Abnormal accumulation of monoalkyl-diacylglycerol (MADAG) was found in Wolman's disease, a human genetic disorder defined by a deficiency in lysosomal acid lipase. In the current study, we found that among the nine recombinant human lipid acyltransferases examined, acyl-CoA:diacylglycerol acyltransferase (DGAT)1, DGAT2, acyl-CoA:monoacylglycerol acyltransferase (MGAT)2, MGAT3, acyl-CoA:wax-alcohol acyltransferase 2/MFAT, and DGAT candidate 3 were able to use 1-monoalkylglycerol (1-MAkG) as an acyl acceptor for the synthesis of monoalkyl-monoacylglycerol (MAMAG)...
June 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#6
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28374935/prenatal-sonographic-findings-in-a-case-of-wolman-s-disease
#7
Matthew J Blitz, Burton Rochelson, Monica Sood, Martin G Bialer, Nidhi Vohra
No published case of Wolman's disease has described the prenatal sonographic findings. We present a case in which a third-trimester sonographic examination demonstrated fetal hepatomegaly and bilateral adrenal echogenicity suggestive of diffuse calcification. Wolman's disease, also known as lysosomal acid lipase (LIPA) deficiency, is a rare autosomal-recessive disorder characterized by complete absence of the LIPA enzyme. The diagnosis of Wolman's disease was made postnatally by biochemical testing, which indicated absence of LIPA enzyme activity and gene sequencing, which confirmed homozygosity for the G66V mutation within the LIPA gene...
April 4, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#8
COMPARATIVE STUDY
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD)...
July 1, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#9
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#10
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28183748/morphology-of-wolman-cholesteryl-ester-storage-disease
#11
Robin M Ireland
No abstract text is available yet for this article.
February 9, 2017: Blood
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#12
REVIEW
James E Frampton
Sebelipase alfa (Kanuma(®), Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
December 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27720570/-wolman-disease
#13
L Ben Hassine, L Lahmar, H Louati, W Douira, I Bellagha
No abstract text is available yet for this article.
November 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27376161/sebelipase-alfa-enzymatic-replacement-treatment-for-lysosomal-acid-lipase-deficiency
#14
REVIEW
D M Paton
Sebelipase alfa was approved for use in 2015 for patients suffering from lysosomal acid lipase deficiency in either of its two forms. The more severe, early-onset form, Wolman disease, occurs in young infants in whom it is normally fatal within the first year of life. Sebelipase alfa has allowed a small number of such infants to achieve a relatively normal growth rate and to survive for 2 or more years. In older children and adults, the enzyme has corrected their dyslipidemia and produced significant improvement in markers of hepatic function...
May 2016: Drugs of Today
https://www.readbyqxmd.com/read/27127007/shwachman-diamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype
#15
Emmanuel Scalais, Anne-Catherine Connerotte, Karine Despontin, Armand Biver, Chantal Ceuterick-de Groote, Marielle Alders, Athanassios Kolivras, Jean-Pierre Hachem, Linda De Meirleir
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe a SDS patient with early ichthyosis associated with dermal and epidermal intracellular lipid droplets (iLDs), hypoglycemia and later a distinctive clinical SDS phenotype. At 3 months of age, she had ichthyosis, growth retardation, and failure to thrive. She had not cytopenia...
July 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27094156/secondary-hemophagocytic-lymphohistiocytosis-in-an-infant-with-wolman-disease-hemophagocytosis-and-wolman-disease
#16
Aynur Küçükçongar Yavaş, Betül Orhaner, Pınar Genç, Nevin Kılıç, Hakan Erdoğan, Özlem Özdemir, Arzu Ekici
No abstract text is available yet for this article.
April 18, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
https://www.readbyqxmd.com/read/26965858/development-of-a-selective-activity-based-probe-for-glycosylated-lipa
#17
Adam G Schwaid, Wanida Ruangsiriluk, Allan R Reyes, Shawn Cabral, Francis Rajamohan, Meihua Tu, Jessica Ward, Philip A Carpino
Loss of LIPA activity leads to diseases such as Wolman's Disease and Cholesterol Ester Storage Disease. While it is possible to measure defects in LIPA protein levels, it is difficult to directly measure LIPA activity in cells. In order to measure LIPA activity directly we developed a LIPA specific activity based probe. LIPA is heavily glycosylated although it is unclear how glycosylation affects LIPA activity or function. Our probe is specific for a glycosylated form of LIPA in cells, although it labels purified LIPA regardless of glycosylation...
April 15, 2016: Bioorganic & Medicinal Chemistry Letters
https://www.readbyqxmd.com/read/26960203/disorders-in-the-initial-steps-of-steroid-hormone-synthesis
#18
REVIEW
Walter L Miller
Steroidogenesis begins with cellular internalization of low-density lipoprotein particles and subsequent intracellular processing of cholesterol. Disorders in these steps include Adrenoleukodystrophy, Wolman Disease and its milder variant Cholesterol Ester Storage Disease, and Niemann-Pick Type C Disease, all of which may present with adrenal insufficiency. The means by which cholesterol is directed to steroidogenic mitochondria remains incompletely understood. Once cholesterol reaches the outer mitochondrial membrane, its delivery to the inner mitochondrial membrane is regulated by the steroidogenic acute regulatory protein (StAR)...
January 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/26890176/the-effect-of-community-based-prevention-and-care-on-ebola-transmission-in-sierra-leone
#19
Paul Pronyk, Braeden Rogers, Sylvia Lee, Aarunima Bhatnagar, Yaron Wolman, Roeland Monasch, David Hipgrave, Peter Salama, Adam Kucharski, Mickey Chopra
OBJECTIVES: To examine the acceptability, use, effects on early isolation, and contribution to Ebola virus disease (EVD) transmission of Community Care Centers (CCCs), which were rapidly deployed in Sierra Leone during an accelerated phase of the 2014-2015 EVD epidemic. METHODS: Focus group discussions, triads, and key informant interviews assessed acceptability of the CCCs. Facility registers, structured questionnaires, and laboratory records documented use, admission, and case identification...
April 2016: American Journal of Public Health
https://www.readbyqxmd.com/read/26843764/a-rare-constellation-of-imaging-findings-in-wolman-disease
#20
Debraj Sen, Lovleen Satija, Sudhir Saxena, Vikas Rastogi, Meenu Singh
No abstract text is available yet for this article.
December 2015: Medical Journal, Armed Forces India
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