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https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#1
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...
November 23, 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#2
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
November 10, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#3
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#4
Ryan W Himes, Sarah E Barlow, Kevin Bove, Norma M Quintanilla, Rachel Sheridan, Rohit Kohli
Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and γ-glutamyl transferase...
September 13, 2016: Pediatrics
https://www.readbyqxmd.com/read/27267311/epilepsy-in-kcnh1-related-syndromes
#5
Mario Mastrangelo, Ingrid E Scheffer, Nuria C Bramswig, Lal D V Nair, Candace T Myers, Maria Lisa Dentici, Georg C Korenke, Kelly Schoch, Philippe M Campeau, Susan M White, Vandana Shashi, Sujay Kansagra, Anthonie J Van Essen, Vincenzo Leuzzi
KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb and skeletal anomalies, intellectual disability, and seizures. We report the epilepsy phenotype in patients with KCNH1 mutations. Demographic data, electroclinical features, response to antiepileptic drugs, and results of significant diagnostic investigations of nine patients carrying mutations in KCNH1 were obtained from referring centres...
June 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/26939632/the-impact-of-middle-turbinate-concha-bullosa-on-the-severity-of-inferior-turbinate-hypertrophy-in-patients-with-a-deviated-nasal-septum
#6
C M Tomblinson, M-R Cheng, D Lal, J M Hoxworth
BACKGROUND AND PURPOSE: Inferior turbinate hypertrophy and concha bullosa often occur opposite the direction of nasal septal deviation. The objective of this retrospective study was to determine whether a concha bullosa impacts inferior turbinate hypertrophy in patients who have nasal septal deviation. MATERIALS AND METHODS: The electronic medical record was used to identify sinus CT scans exhibiting nasal septal deviation for 100 adult subjects without and 100 subjects with unilateral middle turbinate concha bullosa...
July 2016: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/26800862/management-of-rhinosinusitis-during-pregnancy-systematic-review-and-expert-panel-recommendations
#7
REVIEW
Devyani Lal, Ameya A Jategaonkar, Larry Borish, Linda R Chambliss, Sharon H Gnagi, Peter H Hwang, Matthew A Rank, James A Stankiewicz, Valerie J Lund
BACKGROUND: Management of rhinosinusitis during pregnancy requires special considerations. OBJECTIVES: 1. Conduct a systematic literature review for acute and chronic rhinosinusitis (CRS) management during pregnancy. 2. Make evidence-based recommendations. METHODS: The systematic review was conducted using MEDLINE and EMBASE databases and relevant search terms. Title, abstract and full manuscript review were conducted by two authors independently...
June 2016: Rhinology
https://www.readbyqxmd.com/read/26518818/topic-inguinal-hernia-fixation
#8
R Wadhawan, M Gupta, A Laharwal, C Tsai, S Tang, J Hu, W B Tan, E Sta Clara, P Prakash, A Shabbir, D Lomanto, M Takahashi, H Matsuya, N Nishinari, M Szura, A Pasternak, W Kibil, R Solecki, A Matyja, A Porter, C Berney, H Niebuhr, F Mayer, F Köckerling, D Lal, P Klobusicky, P Feyerherd, M Ates, E Kinaci, E Kose, V Soyer, B Sarici, S Cuglan, F Korkmaz, A Dirican, J Gómez-Menchero, P J Jurado, J Bellido Luque, J García Moreno, J M Suarez Grau, J F Guadalajara Jurado, M Giubileo, L Federico, S De Nigris, P Ventura, P García-Pastor, F Carbonell-Tatay, A Torregrosa-Gallud, U Forgione, Y Feleshtynsky, V F Vatamanyuk, S A Svyrydovsky, A V Kokhanevych, A Curado-Soriano, M Infantes-Ormad, Z Valera-Sanchez, A Dominguez-Amodeo, J R Naranjo-Fernandez, A Ruiz Zafra, E Navarrete-Carcer, F Oliva-Mompean, J Padillo-Ruiz, J Brochado, F Farah, R G Nicastro, G A Condi, M De Marco, R Samaan, M C Radtke, Z Ji, J Li
No abstract text is available yet for this article.
April 2015: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/26350820/identification-and-metabolic-profiling-of-patients-with-lysosomal-acid-lipase-deficiency
#9
Clive R Pullinger, Eveline Oestreicher Stock, Irina Movsesyan, Mary J Malloy, Philip H Frost, Radhika Tripuraneni, Anthony G Quinn, Brian Y Ishida, Ernst J Schaefer, Bela F Asztalos, John P Kane
BACKGROUND: Lysosomal acid lipase (LAL), encoded by the LIPA gene, catalyzes the intracellular hydrolysis of cholesteryl esters and triglycerides in hepatocytes and macrophages. LIPA defects cause accumulation of these lipids in lysosomes. LAL deficiency (LAL D) presents and progresses as a continuum with dyslipidemia, hepatomegaly, and liver fibrosis. OBJECTIVE: To improve the understanding of the genetic basis of LAL D, an underappreciated cause of dyslipidemia and cirrhosis, we studied DNA samples from patients with various phenotypes of dyslipidemia...
September 2015: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/26252914/clinical-features-of-lysosomal-acid-lipase-deficiency
#10
Barbara K Burton, Patrick B Deegan, Gregory M Enns, Ornella Guardamagna, Simon Horslen, Gerard K Hovingh, Steve J Lobritto, Vera Malinova, Valerie A McLin, Julian Raiman, Maja Di Rocco, Saikat Santra, Reena Sharma, Jolanta Sykut-Cegielska, Chester B Whitley, Stephen Eckert, Vassili Valayannopoulos, Anthony G Quinn
OBJECTIVE: The aim of this study was to characterize key clinical manifestations of lysosomal acid lipase deficiency (LAL D) in children and adults. METHODS: Investigators reviewed medical records of LAL D patients ages ≥5 years, extracted historical data, and obtained prospective laboratory and imaging data on living patients to develop a longitudinal dataset. RESULTS: A total of 49 patients were enrolled; 48 had confirmed LAL D. Mean age at first disease-related abnormality was 9...
December 2015: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/26237668/anesthetic-management-of-an-unusual-case-of-coats-disease-complex-use-of-dexmedetomidine
#11
Badri P Das, Lal D Mishra
No abstract text is available yet for this article.
October 2016: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/25915598/mutations-in-kcnh1-and-atp6v1b2-cause-zimmermann-laband-syndrome
#12
Fanny Kortüm, Viviana Caputo, Christiane K Bauer, Lorenzo Stella, Andrea Ciolfi, Malik Alawi, Gianfranco Bocchinfuso, Elisabetta Flex, Stefano Paolacci, Maria Lisa Dentici, Paola Grammatico, Georg Christoph Korenke, Vincenzo Leuzzi, David Mowat, Lal D V Nair, Thi Tuyet Mai Nguyen, Patrick Thierry, Susan M White, Bruno Dallapiccola, Antonio Pizzuti, Philippe M Campeau, Marco Tartaglia, Kerstin Kutsche
Zimmermann-Laband syndrome (ZLS) is a developmental disorder characterized by facial dysmorphism with gingival enlargement, intellectual disability, hypoplasia or aplasia of nails and terminal phalanges, and hypertrichosis. We report that heterozygous missense mutations in KCNH1 account for a considerable proportion of ZLS. KCNH1 encodes the voltage-gated K(+) channel Eag1 (Kv10.1). Patch-clamp recordings showed strong negative shifts in voltage-dependent activation for all but one KCNH1 channel mutant (Gly469Arg)...
June 2015: Nature Genetics
https://www.readbyqxmd.com/read/25429844/immunological-profiling-in-chronic-rhinosinusitis-with-nasal-polyps-reveals-distinct-vegf-and-gm-csf-signatures-during-symptomatic-exacerbations
#13
R D Divekar, S Samant, M A Rank, J Hagan, D Lal, E K O'Brien, H Kita
BACKGROUND: The mechanisms and immune pathways associated with chronic rhinosinusitis (CRS) are not fully understood. Immunological changes during acute exacerbation of CRS may provide valuable clues to the pathogenesis and perpetuation of the disease. OBJECTIVE: To characterize local and systemic immune responses associated with acute worsening of sinonasal symptoms during exacerbation in CRS with nasal polyps (CRSwNP) compared to controls. METHODS: This was a non-interventional prospective study of individuals with CRSwNP and normal controls...
April 2015: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/24792990/lysosomal-acid-lipase-deficiency-an-under-recognized-cause-of-dyslipidaemia-and-liver-dysfunction
#14
REVIEW
Željko Reiner, Ornella Guardamagna, Devaki Nair, Handrean Soran, Kees Hovingh, Stefano Bertolini, Simon Jones, Marijana Ćorić, Sebastiano Calandra, John Hamilton, Terence Eagleton, Emilio Ros
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of progression vary greatly and this may relate to the nature of the underlying mutations. Patients presenting in infancy have the most rapidly progressive disease, developing signs and symptoms in the first weeks of life and rarely surviving beyond 6 months of age. Children and adults typically present with some combination of dyslipidaemia, hepatomegaly, elevated transaminases, and microvesicular hepatosteatosis on biopsy...
July 2014: Atherosclerosis
https://www.readbyqxmd.com/read/24291220/the-genetic-basis-of-doors-syndrome-an-exome-sequencing-study
#15
MULTICENTER STUDY
Philippe M Campeau, Dalia Kasperaviciute, James T Lu, Lindsay C Burrage, Choel Kim, Mutsuki Hori, Berkley R Powell, Fiona Stewart, Têmis Maria Félix, Jenneke van den Ende, Marzena Wisniewska, Hülya Kayserili, Patrick Rump, Sheela Nampoothiri, Salim Aftimos, Antje Mey, Lal D V Nair, Michael L Begleiter, Isabelle De Bie, Girish Meenakshi, Mitzi L Murray, Gabriela M Repetto, Mahin Golabi, Edward Blair, Alison Male, Fabienne Giuliano, Ariana Kariminejad, William G Newman, Sanjeev S Bhaskar, Jonathan E Dickerson, Bronwyn Kerr, Siddharth Banka, Jacques C Giltay, Dagmar Wieczorek, Anna Tostevin, Joanna Wiszniewska, Sau Wai Cheung, Raoul C Hennekam, Richard A Gibbs, Brendan H Lee, Sanjay M Sisodiya
BACKGROUND: Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures (DOORS) syndrome is a rare autosomal recessive disorder of unknown cause. We aimed to identify the genetic basis of this syndrome by sequencing most coding exons in affected individuals. METHODS: Through a search of available case studies and communication with collaborators, we identified families that included at least one individual with at least three of the five main features of the DOORS syndrome: deafness, onychodystrophy, osteodystrophy, intellectual disability, and seizures...
January 2014: Lancet Neurology
https://www.readbyqxmd.com/read/24113467/radiation-dose-reduction-in-paranasal-sinus-ct-using-model-based-iterative-reconstruction
#16
J M Hoxworth, D Lal, G P Fletcher, A C Patel, M He, R G Paden, A K Hara
BACKGROUND AND PURPOSE: CT performed with Veo model-based iterative reconstruction has shown the potential for radiation-dose reduction. This study sought to determine whether Veo could reduce noise and improve the image quality of low-dose sinus CT. MATERIALS AND METHODS: Twenty patients consented to participate and underwent low- and standard-dose sinus CT on the same day. Standard-dose CT was created with filtered back-projection (120 kV[peak], 210 mA, 0.4-second rotation, and 0...
April 2014: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/23764718/evaluating-the-role-of-flupirtine-for-postcraniotomy-pain-and-compare-it-with-diclofenac-sodium-a-prospective-randomized-double-blind-placebo-controlled-study
#17
RANDOMIZED CONTROLLED TRIAL
Ghanshyam Yadav, Sujali Choupoo, Saurabh K Das, Susanta K Das, Shailaja S Behera, Sandeep Khuba, Lal D Mishra, Dinesh K Singh
BACKGROUND: Patients undergoing craniotomy, experience moderate to severe pain in postoperative period. Flupirtine does not have side effects like sedation and increase postoperative bleeding, so it may be a useful analgesic in neurosurgical patients. We designed this prospective, randomized, double blind, placebo-controlled study to evaluate the role of flupirtine for postcraniotomy pain and compare it with diclofenac sodium. MATERIALS AND METHODS: A total of 390 adults (18 to 70 y), American Society of Anaesthesiologists I and II, of either sex, undergoing elective craniotomy, were randomly divided into 3 equal groups of 130 each...
January 2014: Journal of Neurosurgical Anesthesiology
https://www.readbyqxmd.com/read/17841664/cosmic-ray-record-in-solar-system-matter
#18
R C Reedy, J R Arnold, D Lal
The energetic nuclei in cosmic rays interact with meteoroids, the moon, planets, and other solar system matter. The nuclides and heavy nuclei tracks produced by the cosmic-ray particles in these targets contain a wealth of information about the history of the objects and temporal and spatial variations in the particle fluxes. Most lunar samples and meny meteorites have complex histories of cosmicray exposure from erosion, gardening, fragmentation, orbital changes, and other processes. There appear to be variations in the past fluxes of solar particles, and possibly also galactic cosmic rays, on time scales of 10(4) to 10(7) years...
January 14, 1983: Science
https://www.readbyqxmd.com/read/17817299/low-energy-protons-average-flux-in-interplanetary-space-during-the-last-100-000-years
#19
D Lal, V S Venkatavaradan
The radioactivity of aluminum-26 in two cores of Pacific sediments is an order of magnitude higher than was expected, as a result of its production by cosmic-ray interactions in the terrestrial environment. The higher activity can be explained only by postulating influx with extraterrestrial cosmic dust that had been exposed to significant flux of energetic particles capable of producing nuclear interactions. These particles may well be the "solar" cosmic rays that are sporadically accelerated by Sun during certain solar flares, since the steady galactic cosmic-ray flux is inadequate...
March 18, 1966: Science
https://www.readbyqxmd.com/read/17802258/the-solar-system-records-from-t-ge-0-meteorites-and-the-early-solar-system
#20
D Lal
No abstract text is available yet for this article.
May 19, 1989: Science
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