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LAL deficiency

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https://www.readbyqxmd.com/read/29773783/cholesteryl-ester-storage-disease-fatal-outcome-without-causal-therapy-in-a-female-patient-with-the-preventable-sequelae-of-progressive-liver-disease-after-many-years-of-mild-symptoms
#1
Ali Canbay, Meike N Müller, Stathis Philippou, Guido Gerken, Andreas Tromm
BACKGROUND Cholesteryl ester storage disease (CESD), also known as lysosomal acid lipase deficiency (LAL-D), is a rare autosomal-recessive inheritable lysosomal storage disease. Since 2015, a causal treatment with sebelipase alfa, which replaces the missing LAL enzyme, has been approved. We report a fatal course of LAL-D in a female patient. CASE REPORT In 1979, CESD was first diagnosed in a 13-year-old female with marked hepatomegaly. At that time, no specific treatment for CESD was available and the spontaneous course of the disease had to be awaited...
May 18, 2018: American Journal of Case Reports
https://www.readbyqxmd.com/read/29713003/multi-omics-profiling-of-younger-asian-breast-cancers-reveals-distinctive-molecular-signatures
#2
Zhengyan Kan, Ying Ding, Jinho Kim, Hae Hyun Jung, Woosung Chung, Samir Lal, Soonweng Cho, Julio Fernandez-Banet, Se Kyung Lee, Seok Won Kim, Jeong Eon Lee, Yoon-La Choi, Shibing Deng, Ji-Yeon Kim, Jin Seok Ahn, Ying Sha, Xinmeng Jasmine Mu, Jae-Yong Nam, Young-Hyuck Im, Soohyeon Lee, Woong-Yang Park, Seok Jin Nam, Yeon Hee Park
Breast cancer (BC) in the Asia Pacific regions is enriched in younger patients and rapidly rising in incidence yet its molecular bases remain poorly characterized. Here we analyze the whole exomes and transcriptomes of 187 primary tumors from a Korean BC cohort (SMC) enriched in pre-menopausal patients and perform systematic comparison with a primarily Caucasian and post-menopausal BC cohort (TCGA). SMC harbors higher proportions of HER2+ and Luminal B subtypes, lower proportion of Luminal A with decreased ESR1 expression compared to TCGA...
April 30, 2018: Nature Communications
https://www.readbyqxmd.com/read/29705274/early-onset-lysosomal-acid-lipase-deficiency-presenting-as-secondary-hemophagocytic-lymphohistiocytosis-two-infants-treated-with-sebelipase-alfa
#3
Ermelinda Santos Silva, Maja Klaudel-Dreszler, Agnieska Bakuła, Teresa Oliva, Tereza Sousa, Paula Cristina Fernandes, Anna Tylki-Szymańska, Elena Kamenets, Esmeralda Martins, Piotr Socha
Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible...
April 25, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29655841/lysosomal-acid-lipase-deficiency-allograft-recurrence-and-liver-failure-clinical-outcomes-of-18-liver-transplantation-patients
#4
REVIEW
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, Helen Remotti, Thomas Schiano, Maria Isabel Fiel, Manisha Balwani
Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation were unsuccessful at preventing multi-systemic disease progression, and were associated with significant morbidity and mortality. We report two sisters, diagnosed in infancy, who succumbed to LAL-D with accelerated disease progression following splenectomy and liver transplantation...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29644433/boron-application-improves-yield-of-rice-cultivars-under-high-temperature-stress-during-vegetative-and-reproductive-stages
#5
Mohammad Shahid, Amaresh Kumar Nayak, Rahul Tripathi, Jawahar Lal Katara, Priyanka Bihari, Banwari Lal, Priyanka Gautam
It is reported that high temperatures (HT) would cause a marked decrease in world rice production. In tropical regions, high temperatures are a constraint to rice production and the most damaging effect is on spikelet sterility. Boron (B) plays a very important role in the cell wall formation, sugar translocation, and reproduction of the rice crop and could play an important role in alleviating high temperature stress. A pot culture experiment was conducted to study the effect of B application on high temperature tolerance of rice cultivars in B-deficient soil...
April 12, 2018: International Journal of Biometeorology
https://www.readbyqxmd.com/read/29628368/sebelipase-alfa-improves-atherogenic-biomarkers-in-adults-and-children-with-lysosomal-acid-lipase-deficiency
#6
Don P Wilson, Mark Friedman, Sachin Marulkar, Tyler Hamby, Eric Bruckert
BACKGROUND: Measures of atherogenic cholesterol, with and without concomitant use of lipid-lowering medications (LLMs), are reported with up to 52 weeks of sebelipase alfa treatment in children and adults with lysosomal acid lipase deficiency (LAL-D) participating in the phase 3 Acid Lipase Replacement Investigating Safety and Efficacy study (NCT01757184). OBJECTIVE: To examine the effects of sebelipase alfa on levels of atherogenic biomarkers in the Acid Lipase Replacement Investigating Safety and Efficacy study...
March 9, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29599133/lal-lysosomal-acid-lipase-promotes-reverse-cholesterol-transport-in-vitro-and-in-vivo
#7
Kristin L Bowden, Joshua A Dubland, Teddy Chan, You-Hai Xu, Gregory A Grabowski, Hong Du, Gordon A Francis
OBJECTIVE: To explore the role of LAL (lysosomal acid lipase) in macrophage cholesterol efflux and whole-body reverse cholesterol transport. APPROACH AND RESULTS: Immortalized peritoneal macrophages from lal-/ - mice showed reduced expression of ABCA1 (ATP-binding cassette transporter A1) and ABCG1 (ATP-binding cassette transporter G1), reduced production of the regulatory oxysterol 27-hydroxycholesterol, and impaired suppression of cholesterol synthesis on exposure to acetylated low-density lipoprotein when compared with lal+/+ macrophages...
March 29, 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29547398/lysosomal-acid-lipase-and-lipid-metabolism-new-mechanisms-new-questions-and-new-therapies
#8
Hanrui Zhang
PURPOSE OF REVIEW: Lysosomal acid lipase (LAL), encoded by the LIPA gene, is an essential lysosomal enzyme that hydrolyzes cholesteryl ester and triglyceride delivered to the lysosome. This review highlights the novel pathophysiological role of LAL, the functional genomic discoveries of LIPA as a risk locus for coronary heart diseases (CHD), and the clinical advance in therapies for LAL deficiency. RECENT FINDINGS: The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency...
June 2018: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/29535442/benefit-of-treatment-with-sebelipase-alfa-in-a-63-year-old-patient-with-advanced-liver-and-atherosclerotic-disease-due-to-lysosomal-acid-lipase-deficiency-lal-d
#9
Elmar Aigner, Alexandra Feldman, Daniel Neureiter, Christian Datz, Vlad Ratziu, Bernhard Paulweber
No abstract text is available yet for this article.
March 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29527374/lysosomal-acid-lipase-deficiency-report-of-five-cases-across-the-age-spectrum
#10
Marco Antonio Curiati, Sandra Obikawa Kyosen, Vanessa Gonçalves Pereira, Francy Reis da Silva Patrício, Ana Maria Martins
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29504044/weekly-regimen-of-vitamin-d-supplementation-is-more-efficacious-than-stoss-regimen-for-treatment-of-vitamin-d-deficiency-in-children-with-chronic-liver-diseases
#11
Bikrant Bihari Lal, Seema Alam, Rajeev Khanna, Dinesh Rawat
There are no evidence-based recommendations on the ideal dose and regimen for supplementation of vitamin D in children with chronic liver disease (CLD). This study aimed to compare the safety and efficacy of weekly and stoss regimens for treatment of vitamin D deficiency in these children. Children between the ages of 1 to 18 years with CLD and hypovitaminosis D defined by 25-OH vitamin D (25(OH)D) < 30µg/l were included. They were randomized to receive either stoss regimen (600,000 IU on day 1) or weekly (60,000 IU weekly) regimen of vitamin D...
March 4, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29447902/the-erythrocyte-osmotic-resistance-test-as-screening-tool-for-cholesterol-related-lysosomal-storage-diseases
#12
Laura López de Frutos, Jorge J Cebolla, Pilar Irún, Ralf Köhler, Pilar Giraldo
BACKGROUND: Erythrocyte volume regulation and membrane elasticity are essential for adaptation to osmotic and mechanical stress, and life span. Here, we evaluated whether defective cholesterol trafficking caused by the rare lysosomal storages diseases (LSDs), Niemann-Pick type C (NPC) and Lysosomal acid lipase (LAL) deficiency (LALD) impairs these properties. Moreover, we tested whether measurements of cholesterol membrane content and osmotic resistance serve as a screening test for these LSDs...
May 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29394260/healthcare-resource-use-and-costs-of-managing-children-and-adults-with-lysosomal-acid-lipase-deficiency-at-a-tertiary-referral-centre-in-the-united-kingdom
#13
Julian F Guest, Andy Ingram, Nadia Ayoub, Christian J Hendriksz, Elaine Murphy, Yusof Rahman, Patrick McKiernan, Helen Mundy, Patrick Deegan
OBJECTIVE: To estimate clinical progression and resource utilisation together with the associated costs of managing children and adults with LAL Deficiency, at a tertiary referral centre in the UK. METHODS: A retrospective chart review was undertaken of patients in the UK with a confirmed diagnosis of LAL Deficiency who were managed at a LAL Deficiency tertiary referral treatment centre. Patients' pathways, treatment patterns, health outcomes and resource use were quantified over differing lengths of time for each patient enabling the NHS cost of patient management in tertiary care to be estimated...
2018: PloS One
https://www.readbyqxmd.com/read/29374543/lysosomal-acid-lipase-regulates-fatty-acid-channeling-in-brown-adipose-tissue-to-maintain-thermogenesis
#14
Madalina Duta-Mare, Vinay Sachdev, Christina Leopold, Dagmar Kolb, Nemanja Vujic, Melanie Korbelius, Dina C Hofer, Wenmin Xia, Katharina Huber, Martina Auer, Benjamin Gottschalk, Christoph Magnes, Wolfgang F Graier, Andreas Prokesch, Branislav Radovic, Juliane G Bogner-Strauss, Dagmar Kratky
Lysosomal acid lipase (LAL) is the only known enzyme, which hydrolyzes cholesteryl esters and triacylglycerols in lysosomes of multiple cells and tissues. Here, we explored the role of LAL in brown adipose tissue (BAT). LAL-deficient (Lal-/-) mice exhibit markedly reduced UCP1 expression in BAT, modified BAT morphology with accumulation of lysosomes, and mitochondrial dysfunction, consequently leading to regular hypothermic events in mice kept at room temperature. Cold exposure resulted in reduced lipid uptake into BAT, thereby aggravating dyslipidemia and causing life threatening hypothermia in Lal-/- mice...
April 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29365892/case-report-patient-with-heterozygous-ldlr-mutation-and-lal-deficiency
#15
Thomas Grenkowitz, Nikolaus Buchmann, Tim Hollstein, Ilja Demuth, Elisabeth Steinhagen-Thiessen, Ursula Kassner
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365870/late-onset-lysosomal-acid-lipase-deficiency-lal-d-successful-outcome-of-five-pregnancies-from-four-homozygous-women-in-greece
#16
Euridiki Drogari, George Pappas, Eleftherios Iliadis, Nina Manolaki
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29365862/characterisation-of-plasma-lipoprotein-particles-in-spanish-patients-with-lysosomal-acid-lipase-deficiency-lal-d
#17
Enrique Rodríguez-García, Miriam Gil-Serret, María Concepción García-Jiménez, María Luisa González-Diéguez, Pablo Del Valle Loarte, Miguel Angel Barba-Romero, David Gil-Ortega, Rosa Bernal-López, Nuria Amigó, Raquel Yahyaoui
No abstract text is available yet for this article.
August 2017: Atherosclerosis
https://www.readbyqxmd.com/read/29358478/identification-of-rare-diseases-by-screening-a-population-selected-on-the-basis-of-routine-pathology-results-the-pathfinder-project-lysosomal-acid-lipase-cholesteryl-ester-storage-disease-substudy
#18
Timothy M Reynolds, Clare Mewies, John Hamilton, Anthony S Wierzbicki
AIMS: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases. METHODS: Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol (≤0...
January 22, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29339442/specific-substrate-for-the-assay-of-lysosomal-acid-lipase
#19
Sophia Masi, Naveen Chennamaneni, Frantisek Turecek, C Ronald Scott, Michael H Gelb
BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL...
April 2018: Clinical Chemistry
https://www.readbyqxmd.com/read/29332587/lysosomal-acid-lipase-deficiency-could-dyslipidemia-drive-the-diagnosis
#20
REVIEW
Ornella Guardamagna, Federica Guaraldi
LAL-deficiency (LAL-D) is a rare and systemic condition, secondary to LIPA gene mutations, responsible for lysosomal accumulation of cholesteryl esters and triglycerides, whose manifestations are very heterogeneous in terms of the age of onset, severity and the type of clinical and radiological manifestations. Dyslipidemia, hepatomegaly and hepatosteatosis with increased levels of transaminases are the most common features. The increased risk of premature atherosclerosis and cardiovascular disorders, secondary to a generalized alteration of lipid profile and lipoprotein dysfunction associated with LAL-D, has been increasingly pointed out...
2017: Current Pediatric Reviews
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