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LAL treatment in adults

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
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
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...
March 16, 2017: BJU International
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
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
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
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
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
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
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
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
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
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
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
Subhashis Pal, Kainat Khan, Shyamsundar Pal China, Monika Mittal, Konica Porwal, Richa Shrivastava, Isha Taneja, Zakir Hossain, Dhanaraju Mandalapu, Jiaur R Gayen, Muhammad Wahajuddin, Vishnu Lal Sharma, Arun K Trivedi, Sabyasachi Sanyal, Smrati Bhadauria, Madan M Godbole, Sushil K Gupta, Naibedya Chattopadhyay
The drug, theophylline is frequently used as an additive to medications for people suffering from chronic obstructive pulmonary diseases (COPD). We studied the effect of theophylline in bone cells, skeleton and parameters related to systemic calcium homeostasis. Theophylline induced osteoblast apoptosis by increasing reactive oxygen species production that was caused by increased cAMP production. Bone marrow levels of theophylline were higher than its serum levels, indicating skeletal accumulation of this drug...
March 15, 2016: Toxicology and Applied Pharmacology
Raja Ramachandran, Vinod Kumar, Ashwani Kumar, Ashok Kumar Yadav, Ritambhra Nada, Harsha Kumar, Vivek Kumar, Manish Rathi, Harbir Singh Kohli, Krishan Lal Gupta, Vinay Sakhuja, Vivekanand Jha
BACKGROUND: Antibodies to M-type phospholipase A2 receptor (PLA2R) correlate with clinical activity of primary membranous nephropathy (PMN). Risk alleles in PLA2R1 and HLA-DQA1 genes are associated with PMN. Whether these alleles are associated with the development of anti-PLA2R is unknown. In this prospective study we evaluated anti-PLA2R, enhanced glomerular staining for PLA2R and variations in PLA2R1 and HLA-DQA1 genes in Indian patients with PMN and examined their association with response to treatment...
September 2016: Nephrology, Dialysis, Transplantation
V D Sheiko, A G Oganezyan
The results of examination and treatment of 53 patients on limited accumulations of liquid (LAL) for severe acute pancreatitis (SAP) were analysed. In 62.5% of patients on acute aseptic LAL celebrated parapancreatyc liquid accumulation were determinened. Most (94.6%) patients infected by LAL revealed heterogeneity of their structure according ultrasonography, in 81.1%--secvestral mass in their cavity. Systemic inflammatory response syndrome (SIRS) observed both aseptic and infected LAL. Prognostically important criteria LAL infection in patients on SAP is the heterogeneity of echostructure in absence of a downward trend...
July 2015: Klinichna Khirurhiia
Shalini Lal, Jennifer Dell'Elce, Natasha Tucci, Rebecca Fuhrer, Robyn Tamblyn, Ashok Malla
BACKGROUND: Despite the potential and interest of using technology for delivering specialized psychiatric services to young adults, surprisingly limited attention has been paid to systematically assess their perspectives in this regard. For example, limited knowledge exists on the extent to which young people receiving specialized services for a first-episode psychosis (FEP) are receptive to using new technologies as part of mental health care, and to which types of technology-enabled mental health interventions they are amenable to...
April 2015: JMIR Mental Health
Shalini Lal, Ashok Malla
It has been reported that up to 50% of patients receiving mental health services disengage from treatment, with adolescents and young adults being particularly at high risk. Even in the context of specialized services in youth mental health, such as early intervention programs for psychosis, disengagement rates remain high. There is a need for extensive and innovative efforts to address the issue of service disengagement in first-episode psychosis (FEP). A multi-dimensional understanding of the phenomenon of engagement can help to inform the development of strategies to address this important clinical issue...
August 2015: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
P Allan, P Stevens, P Chadwick, A Teubner, A Abraham, G Carlson, S Lal
BACKGROUND & AIMS: Osteomyelitis (OM) is a rare complication of catheter related sepsis after central venous catheter (CVC) use. The prevalence, characteristics and diagnosis of OM in patients with intestinal failure (IF) receiving long term parenteral nutrition (PN) through CVCs have not previously been described. METHODS: This was a retrospective study from a prospectively maintained database of patients referred to a National IF centre. Age, IF aetiology, past medical history, time on PN, OM site and organism(s) cultured were recorded...
October 2016: Clinical Nutrition: Official Journal of the European Society of Parenteral and Enteral Nutrition
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