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LAL treatment in adults

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https://www.readbyqxmd.com/read/29044819/repeated-sleep-quality-assessment-and-use-of-sleep-promoting-interventions-in-icu
#1
Ashika Menear, Rosalind Elliott, Leanne M Aitken, Sara Lal, Sharon McKinley
To describe sleep quality using repeated subjective assessment and the ongoing use of sleep-promoting interventions in intensive care. It is well known that the critically ill experience sleep disruption while receiving treatment in the intensive care unit. Both the measurement and promotion of sleep is challenging in the complex environment of intensive care unit. Repeated subjective assessment of patients' sleep in the intensive care unit and use of sleep-promoting interventions has not been widely reported...
October 16, 2017: Nursing in Critical Care
https://www.readbyqxmd.com/read/28924018/ibrutinib-for-chronic-graft-versus-host-disease-after-failure-of-prior-therapy
#2
David Miklos, Corey S Cutler, Mukta Arora, Edmund K Waller, Madan Jagasia, Iskra Pusic, Mary E Flowers, Aaron C Logan, Ryotaro Nakamura, Bruce R Blazar, Yunfeng Li, Stephen Chang, Indu Lal, Jason Dubovsky, Danelle F James, Lori Styles, Samantha Jaglowski
Chronic graft-versus-host disease (cGVHD) is a serious complication of allogeneic stem cell transplantation with few effective options available after failure of corticosteroids. B and T cells play a role in the pathophysiology of cGVHD. Ibrutinib inhibits Bruton's tyrosine kinase in B cells and interleukin-2-inducible T-cell kinase in T cells. In preclinical models, ibrutinib reduced severity of cGVHD. This multicenter, open-label study evaluated the safety and efficacy of ibrutinib in patients with active cGVHD with inadequate response to corticosteroid-containing therapies...
September 18, 2017: Blood
https://www.readbyqxmd.com/read/28912187/pediatric-cardiomyopathies
#3
REVIEW
Teresa M Lee, Daphne T Hsu, Paul Kantor, Jeffrey A Towbin, Stephanie M Ware, Steven D Colan, Wendy K Chung, John L Jefferies, Joseph W Rossano, Chesney D Castleberry, Linda J Addonizio, Ashwin K Lal, Jacqueline M Lamour, Erin M Miller, Philip T Thrush, Jason D Czachor, Hiedy Razoky, Ashley Hill, Steven E Lipshultz
Pediatric cardiomyopathies are rare diseases with an annual incidence of 1.1 to 1.5 per 100 000. Dilated and hypertrophic cardiomyopathies are the most common; restrictive, noncompaction, and mixed cardiomyopathies occur infrequently; and arrhythmogenic right ventricular cardiomyopathy is rare. Pediatric cardiomyopathies can result from coronary artery abnormalities, tachyarrhythmias, exposure to infection or toxins, or secondary to other underlying disorders. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28902626/pediatric-differentiated-thyroid-carcinoma-trends-in-practice-and-outcomes-over-40-years-at-a-single-tertiary-care-institution
#4
Courtney Olmsted, Rajalakshmi Arunachalam, Xiang Gao, Liuska Pesce, Geeta Lal
BACKGROUND: This study aims to analyze changes in characteristics, practice and outcomes of pediatric differentiated thyroid cancer (DTC) at our tertiary care institution. METHODS: Patients <21 years of age diagnosed between 1973 and 2013 were identified. Clinicopathological data, treatment and outcomes were obtained by a retrospective review. RESULTS: Thirteen males and 68 females were divided into Group A (n=35, diagnosed before July 1993) and Group B (n=46, diagnosed after July 1993)...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28838934/management-of-cardiac-involvement-associated-with-neuromuscular-diseases-a-scientific-statement-from-the-american-heart-association
#5
Brian Feingold, William T Mahle, Scott Auerbach, Paula Clemens, Andrea A Domenighetti, John L Jefferies, Daniel P Judge, Ashwin K Lal, Larry W Markham, W James Parks, Takeshi Tsuda, Paul J Wang, Shi-Joon Yoo
For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic...
September 26, 2017: Circulation
https://www.readbyqxmd.com/read/28804516/the-role-of-sebelipase-alfa-in-the-treatment-of-lysosomal-acid-lipase-deficiency
#6
REVIEW
Angelika L Erwin
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28578700/a-rare-presentation-of-an-acute-abdomen-an-ileal-diverticular-perforation
#7
Basuru Uvindu Thilakawardana, Sanjay De Mel, Vasitha Abeysuriya, Janaki Hewavisenthi, Chandima De Mel, Lal Chandrasena, Visula Abeysuriya
BACKGROUND: This case report highlights the value of prompt intervention of diagnostic laparoscopy in a patient suspects of having an acute abdomen due to an intestinal perforation, where there is a limitation of performing Contrast Enhanced Computed Tomography of abdomen. A previously healthy young adult presenting with an acute abdomen due to a spontaneous ileal perforation, without any associated risk factors is a rare clinical entity in a developing country. Therefore, entertaining an early diagnosis will possibly prevent a fatal consequence...
June 2, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28504497/liver-disease-and-dyslipidemia-as-a-manifestation-of-lysosomal-acid-lipase-deficiency-lal-d-clinical-and-diagnostic-aspects-and-a-new-treatment-an-update
#8
Luisa Bay, Cristina Canero Velasco, Mirta Ciocca, Andrea Cotti, Miriam Cuarterolo, Alejandro Fainboim, Eduardo Fassio, Marcela Galoppo, Federico Pinero, Paula Rozenfeld
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28303631/surgical-outcomes-of-percutaneous-nephrolithotomy-in-3402-patients-and-results-of-stone-analysis-in-1559-patients
#9
Syed Adibul Hasan Rizvi, Manzoor Hussain, Syed Hassan Askari, Altaf Hashmi, Murli Lal, Mirza Naqi Zafar
OBJECTIVE: To report our experience of a series of percutaneous nephrolithotomy (PCNL) procedures in a single centre over 18 years in terms of patient and stone characteristics, indications, stone clearance and complications, along with the results of chemical analysis of stones in a subgroup. PATIENTS AND METHODS: We retrospectively analysed the outcomes of PCNL in 3402 patients, who underwent the procedure between 1997 and 2014, obtained from a prospectively maintained database...
November 2017: BJU International
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/28018078/subungual-osteochondroma-nail-sparing-excision
#11
Anurag Tiwari, Nidhi Agrawal, Tarun Verma, Hitesh Lal
Subungual osteochondroma is a relatively uncommon benign bone tumor affecting mostly children and young adults, and is a major source of pain and nail deformity. Treatment consists of marginal excision and meticulous wound closure. In this report, we present three cases of subungual osteochondroma arising from the dorsal aspect of distal phalanx of the great toe, which were managed by marginal excision with preservation of nail apparatus under digital block anesthesia with the use of a ring tourniquet. We emphasize on the use of ring tourniquet made by glove's finger and the technique of preserving the nail apparatus to prevent nail deformity...
October 2016: Journal of Clinical Orthopaedics and Trauma
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/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#13
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/27733791/protective-and-ameliorative-effect-of-sea-buckthorn-leaf-extract-supplementation-on-lead-induced-hemato-biochemical-alterations-in-wistar-rats
#14
Rizwana Zargar, Pratiksha Raghuwanshi, Ankur Rastogi, Aditi Lal Koul, Pallavi Khajuria, Aafreen Wahid Ganai, Sumeet Kour
AIM: To evaluate the protective and ameliorative effect of aqueous sea buckthorn leaf extract (SLE) on hemato-biochemical profile in lead intoxicated Wistar rats. MATERIALS AND METHODS: An experiment was conducted for 60 days. 36 adult male Wistar rats with a mean body weight of 177.8±12.6 g were divided into five groups and were subjected to various daily oral treatment regimens. Group I served as a negative control receiving only feed and water, Group II (positive control for lead) received lead acetate at 250 ppm in drinking water, and Group III (positive control for SLE) received SLE at 100 mg/kg b...
September 2016: Veterinary World
https://www.readbyqxmd.com/read/27437275/self-mutilating-behaviour-in-severe-meningococcal-infection-an-interesting-association
#15
Anju Dinkar, Jitendra Singh, Virendra Atam, Krishna Kumar Sahani, Munna Lal Patel
Neisseria meningitidis most commonly manifests as asymptomatic colonization in the nasopharynx of healthy adolescents and adults. It may rarely present as invasive disease which may be either bacterial meningitis or meningococcal septicaemia. Hereby we report a case presented with fever and rashes, irritability followed by self mutilating behaviour who was diagnosed as a case of invasive meningococcal infection. He responded well to treatment with intravenous ceftriaxone and self mutilating behaviour was subsided completely after treatment...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27293348/atypical-magnetic-resonance-imaging-features-in-subacute-sclerosing-panencephalitis
#16
Biplab Das, Manoj Kumar Goyal, Manish Modi, Sahil Mehta, Sudheer Chakravarthi, Vivek Lal, Sameer Vyas
OBJECTIVES: Subacute sclerosing panencephalitis (SSPE) is rare chronic, progressive encephalitis that affects primarily children and young adults, caused by a persistent infection with measles virus. No cure for SSPE exists, but the condition can be managed by medication if treatment is started at an early stage. METHODS AND RESULTS: Heterogeneity of imaging findings in SSPE is not very uncommon. But pial and gyral enhancements are very rarely noticed. Significant asymmetric onset as well as pial-gyral enhancements is not reported...
April 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27124110/assessment-and-treatment-of-pain-in-thalassemia
#17
REVIEW
Ashutosh Lal
Pain is a subjective symptom whose prevalence can be grossly underestimated. The high proportion of adults with thalassemia who experience chronic pain is evident from recent surveys. However, pain has not received enough attention in the overall management of thalassemia. The association of pain with the type and treatment of thalassemia or with its comorbidities is unclear. Abnormal spine imaging is seen in patients reporting pain, although the role of osteopenia has not been established. Pain becomes more frequent with age...
March 2016: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/27103984/reversal-of-intestinal-failure-associated-liver-disease-ifald-emphasis-on-its-multifactorial-nature
#18
Christian Hvas, Kamelia Kodjabashia, Emma Nixon, Stephen Hayes, Kirstine Farrer, Arun Abraham, Simon Lal
Patients with intestinal failure (IF) and home parenteral nutrition commonly develop abnormal liver function tests. The presentations of IF-associated liver disease (IFALD) range from mild cholestasis or steatosis to cirrhosis and decompensated liver disease. We describe the reversal of IFALD in an adult patient with IF secondary to severe Crohn's disease and multiple small bowel resections. The patient developed liver dysfunction and pathology consistent with IFALD. Multiple causal factors were implicated, including nutrition-related factors, catheter sepsis and the use of hepatotoxic medications...
April 2016: Frontline Gastroenterology
https://www.readbyqxmd.com/read/26976650/loss-of-adult-cardiac-myocyte-gsk-3-leads-to-mitotic-catastrophe-resulting-in-fatal-dilated-cardiomyopathy
#19
Jibin Zhou, Firdos Ahmad, Shan Parikh, Nichole E Hoffman, Sudarsan Rajan, Vipin K Verma, Jianliang Song, Ancai Yuan, Santhanam Shanmughapriya, Yuanjun Guo, Erhe Gao, Walter Koch, James R Woodgett, Muniswamy Madesh, Raj Kishore, Hind Lal, Thomas Force
RATIONALE: Cardiac myocyte-specific deletion of either glycogen synthase kinase (GSK)-3α and GSK-3β leads to cardiac protection after myocardial infarction, suggesting that deletion of both isoforms may provide synergistic protection. This is an important consideration because of the fact that all GSK-3-targeted drugs, including the drugs already in clinical trial target both isoforms of GSK-3, and none are isoform specific. OBJECTIVE: To identify the consequences of combined deletion of cardiac myocyte GSK-3α and GSK-3β in heart function...
April 15, 2016: Circulation Research
https://www.readbyqxmd.com/read/26944585/espen-guidelines-on-chronic-intestinal-failure-in-adults
#20
Loris Pironi, Jann Arends, Federico Bozzetti, Cristina Cuerda, Lyn Gillanders, Palle Bekker Jeppesen, Francisca Joly, Darlene Kelly, Simon Lal, Michael Staun, Kinga Szczepanek, André Van Gossum, Geert Wanten, Stéphane Michel Schneider
BACKGROUND & AIMS: Chronic Intestinal Failure (CIF) is the long-lasting reduction of gut function, below the minimum necessary for the absorption of macronutrients and/or water and electrolytes, such that intravenous supplementation is required to maintain health and/or growth. CIF is the rarest organ failure. Home parenteral nutrition (HPN) is the primary treatment for CIF. No guidelines (GLs) have been developed that address the global management of CIF. These GLs have been devised to generate comprehensive recommendations for safe and effective management of adult patients with CIF...
April 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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