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https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#1
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...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28179703/evaluation-of-five-discriminating-indexes-to-distinguish-beta-thalassemia-trait-from-iron-deficiency-anaemia
#2
Zahid Ullah, Aamer Ali Khattak, Sara Arif Ali, Javaid Hussain, Badshah Noor, Raheela Bano, Muhammad Amin Jan Mahsud
OBJECTIVE: To assess the reliability of different red blood cell indices-based formulae in the indexes formula in differential diagnosis of beta thalassemia trait and iron deficiency anaemia. METHODS: This cross-sectional study was conducted between January and October 2015 in Dera Ismail Khan in the Khyber Pakhtunkhwa province of Pakistan. Patients of beta thalassemia trait and iron deficiency anaemia were registered irrespective of age and gender. About 5 mL of blood was taken from each patient to analyse different red cell parameters like red blood cell count, haemoglobin, mean cell volume, mean cell haemoglobin, mean cell haemoglobin concentration, and red cell distribution width...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28176443/quantitative-phosphoproteomic-analysis-reveals-system-wide-signaling-pathways-regulated-by-site-specific-phosphorylation-on-keratin-8-in-skin-squamous-cell-carcinoma-derived-cell-line
#3
Richa Tiwari, Indrajit Sahu, Bihari Lal Soni, Gajanan J Sathe, Keshava K Datta, Pankaj Thapa, Shruti Sinha, Chella Krishna Vadivel, Bharti Dhaka, Harsha Gowda, Milind M Vaidya
Keratin 8/18, a simple epithelia specific keratin pair, is often aberrantly expressed in squamous cell carcinomas (SCC) where its expression is correlated with increased invasion and poor prognosis. Majority of Keratin 8 (K8) functions are governed by its phosphorylation at Serine(73) (head-domain) and Serine(431) (tail-domain) residues. Although, deregulation of K8 phosphorylation is associated with progression of different carcinomas, its role in skin-SCC and the underlying mechanism is obscure. In this direction, we performed TMT-based quantitative phosphoproteomics by expressing K8 wild type, phosphodead and phosphomimetic mutants in K8-deficient A431 cells...
February 7, 2017: Proteomics
https://www.readbyqxmd.com/read/28121284/knowledge-assessment-regarding-poliomyelitis-among-the-caregivers-of-children-who-received-oral-polio-vaccine-reveals-lack-of-awareness-of-the-vaccine-vial-monitor-vvm-implications-extending-beyond-polio-eradication
#4
Meenakshi Bhilwar, Panna Lal
Vaccine vial monitor (VVM) is now commonly used for vaccines that are included in the National Immunization Schedule in India. It helps to indicate the viability of the vaccine and of the proper functioning of the cold chain. This is useful as it prevents health personnel from administering damaged vaccine. Studies have shown a lack of awareness of health workers regarding the use and interpretation of a VVM. The current study, undertaken among the caregivers of children who were immunized, showed that this lack of information about the VVM also exists among the caregivers...
January 1, 2017: Tropical Doctor
https://www.readbyqxmd.com/read/27941191/diagnostic-and-therapeutic-management-of-children-with-lysosomal-acid-lipase-deficiency-lal-d-review-of-the-literature-and-own-experience
#5
Aldona Wierzbicka-Rucińska, Wojciech Jańczyk, Agnieszka Ługowska, Dariusz Lebensztejn, Piotr Socha
Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#6
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/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#7
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/27813185/new-orally-active-dna-minor-groove-binding-small-molecule-ct-1-acts-against-breast-cancer-by-targeting-tumor-dna-damage-leading-to-p53-dependent-apoptosis
#8
Karan Singh Saini, Hamidullah, Raghib Ashraf, Dhanaraju Mandalapu, Sharmistha Das, Mohd Quadir Siddiqui, Sonam Dwivedi, Jayanta Sarkar, Vishnu Lal Sharma, Rituraj Konwar
Targeting tumor DNA damage and p53 pathway is a clinically established strategy in the development of cancer chemotherapeutics. Majority of anti-cancer drugs are delivered through parenteral route for reasons like severe toxicity, lack of stability, and poor enteral absorption. Current DNA targeting drugs in clinical like anthracycline suffers from major drawbacks like cardiotoxicity. Here, we report identification of a new orally active small molecule curcumin-triazole conjugate (CT-1) with significant anti-breast cancer activity in vitro and in vivo...
November 4, 2016: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#9
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/27795949/outcome-of-repair-of-chronic-tear-of-the-pectoralis-major-using-corkscrew-suture-anchors-by-box-suture-sliding-technique
#10
Deepak Joshi, Jitesh Kumar Jain, Deepak Chaudhary, Utkarsh Singh, Vineet Jain, Ajay Lal
AIM: To assess the functional and clinical results of repair of chronic tears of pectoralis major using corkscrew and sliding suture technique. METHODS: In this retrospective study, we reviewed the results of pectoralis major repair in 11 chronic cases (> 6 wk) done between September 2011 and December 2014 at our institute. In all cases repair was done by same surgeon using corkscrew suture anchors and box suture sliding technique. At 6 mo, after surgery magnetic resonance imaging was done to see the integrity of the repair...
October 18, 2016: World Journal of Orthopedics
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#11
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...
October 2016: Pediatrics
https://www.readbyqxmd.com/read/27616351/wee1-inhibition-in-pancreatic-cancer-cells-is-dependent-on-dna-repair-status-in-a-context-dependent-manner
#12
Shruti Lal, Mahsa Zarei, Saswati N Chand, Emanuela Dylgjeri, Nicole C Mambelli-Lisboa, Michael J Pishvaian, Charles J Yeo, Jordan M Winter, Jonathan R Brody
Pancreatic ductal adenocarcinoma (PDA) is a lethal disease, in part, because of the lack of effective targeted therapeutic options. MK-1775 (also known as AZD1775), a mitotic inhibitor, has been demonstrated to enhance the anti-tumor effects of DNA damaging agents such as gemcitabine. We evaluated the efficacy of MK-1775 alone or in combination with DNA damaging agents (MMC or oxaliplatin) in PDA cell lines that are either DNA repair proficient (DDR-P) or deficient (DDR-D). PDA cell lines PL11, Hs 766T and Capan-1 harboring naturally selected mutations in DNA repair genes FANCC, FANCG and BRCA2 respectively, were less sensitive to MK-1775 as compared to two out of four representative DDR-P (MIA PaCa2 and PANC-1) cell lines...
September 12, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27561415/effect-of-vitamin-d-and-calcium-supplementation-on-ischaemic-stroke-outcome-a-randomised-controlled-open-label-trial
#13
Anu Gupta, Sudesh Prabhakar, Manish Modi, Sanjay K Bhadada, Mani Kalaivani, Vivek Lal, Dheeraj Khurana
BACKGROUND AND AIMS: Vitamin D deficiency is a common problem in stroke survivors. Observational studies have reported an association of low vitamin D levels with greater stroke severity, poststroke mortality and functional disability. Randomised clinical trials are lacking. We sought to assess the effect of calcium and vitamin D supplementation in ischaemic stroke survivors with vitamin D deficiency/insufficiency on disability/mortality outcomes. METHODS: In this randomised controlled open-label trial, 73 patients of acute ischaemic stroke were screened for serum 25 hydroxy Vitamin D (25(OH)D) levels...
September 2016: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/27531897/lysosomal-acid-lipase-in-mesenchymal-stem-cell-stimulation-of-tumor-growth-and-metastasis
#14
Ting Zhao, Cong Yan, Hong Du
Bone marrow mesenchymal stem cells (MSCs) are an important participant in the tumor microenvironment, in which they promote tumor growth and progression. Here we report for the first time that depletion of lysosomal acid lipase (LAL) in MSCs impairs their abilities to stimulate tumor growth and metastasis both in allogeneic and syngeneic mouse models. Reduced cell viability was observed in LAL-deficient (lal-/-) MSCs, which was a result of both increased apoptosis and decreased proliferation due to cell cycle arrest...
September 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27461363/lung-epithelial-cell-specific-expression-of-human-lysosomal-acid-lipase-ameliorates-lung-inflammation-and-tumor-metastasis-in-lipa-mice
#15
Ting Zhao, Xinchun Ding, Hong Du, Cong Yan
Lysosomal acid lipase (LAL), a key enzyme in the metabolic pathway of neutral lipids, has a close connection with inflammation and tumor progression. One major manifestation in LAL-deficient (Lipa(-/-)) mice is an increase of tumor growth and metastasis associated with expansion of myeloid-derived suppressor cells. In the lung, LAL is highly expressed in alveolar type II epithelial cells. To assess how LAL in lung epithelial cells plays a role in this inflammation-related pathogenic process, lung alveolar type II epithelial cell-specific expression of human LAL (hLAL) in Lipa(-/-) mice was established by crossbreeding of CCSP-driven rtTA transgene and (TetO)7-CMV-hLAL transgene into Lipa(-/-) mice (CCSP-Tg/KO)...
August 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27423329/sequencing-for-lipa-mutations-in-patients-with-a-clinical-diagnosis-of-familial-hypercholesterolemia
#16
Barbara Sjouke, Joep C Defesche, Janine S E de Randamie, Albert Wiegman, Sigrid W Fouchier, G Kees Hovingh
BACKGROUND AND AIMS: We recently identified lysosomal acid lipase (LAL) deficiency, a recessive disease caused by mutations in LIPA, in 3 patients with a clinical diagnosis of familial hypercholesterolemia (FH). We aimed to determine the prevalence of LIPA mutations among individuals with a clinical FH diagnosis. METHODS: In 276 patients with phenotypic FH, in whom no genetic basis for their phenotype was found, LIPA was sequenced. All variants were assessed for pathogenicity using a literature search and in silico prediction models...
August 2016: Atherosclerosis
https://www.readbyqxmd.com/read/27392817/successful-long-term-outcome-of-liver-transplantation-in-late-onset-lysosomal-acid-lipase-deficiency
#17
S Sreekantam, I Nicklaus-Wollenteit, J Orr, K Sharif, S Vijay, P J McKiernan, S Santra
Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular complications and hepatosplenomegaly. End-stage liver disease may occur, but there are few reports of successful LT. There are also concerns that systemic manifestations of the disease might persist post-LT. We report a case with excellent outcome eight yr following LT...
September 2016: Pediatric Transplantation
https://www.readbyqxmd.com/read/27354281/lysosomal-acid-lipase-hydrolyzes-retinyl-ester-and-affects-retinoid-turnover
#18
Lukas Grumet, Thomas O Eichmann, Ulrike Taschler, Kathrin A Zierler, Christina Leopold, Tarek Moustafa, Branislav Radovic, Matthias Romauch, Cong Yan, Hong Du, Guenter Haemmerle, Rudolf Zechner, Peter Fickert, Dagmar Kratky, Robert Zimmermann, Achim Lass
Lysosomal acid lipase (LAL) is essential for the clearance of endocytosed cholesteryl ester and triglyceride-rich chylomicron remnants. Humans and mice with defective or absent LAL activity accumulate large amounts of cholesteryl esters and triglycerides in multiple tissues. Although chylomicrons also contain retinyl esters (REs), a role of LAL in the clearance of endocytosed REs has not been reported. In this study, we found that murine LAL exhibits RE hydrolase activity. Pharmacological inhibition of LAL in the human hepatocyte cell line HepG2, incubated with chylomicrons, led to increased accumulation of REs in endosomal/lysosomal fractions...
August 19, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27267311/epilepsy-in-kcnh1-related-syndromes
#19
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/27182274/phenotypic-manifestation-of-congenital-transverse-amputation-of-autopod-in-pakistani-subjects
#20
Hafiza Fizzah Riaz, Karmoon Lal, Saif Ullah, Nadeem Ahmad Bhatti, Waheed Ullah, Sajid Malik
Terminal transverse deficiency of forearm is a very rare limb malformation. Most of the cases have traumatic etiology and congenital presentation is less common. A series of six individuals with transverse deficiency through the hands is presented in this communication. The cases were congenital, morphologically similar and showed loss of four fingers, most often postaxial. The affected arm was reduced in size compared to the contralateral limb and there was distortion of palmer creases. All cases were sporadic and non-syndromic in nature...
March 2016: Pakistan Journal of Medical Sciences Quarterly
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