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https://www.readbyqxmd.com/read/28107169/genetic-diagnosis-of-%C3%AE-1-antitrypsin-deficiency-using-dna-from-buccal-swab-and-serum-samples
#1
Irene Belmonte, Miriam Barrecheguren, Cristina Esquinas, Esther Rodríguez, Marc Miravitlles, Francisco Rodríguez-Frías
BACKGROUND: α1-Antitrypsin deficiency (AATD) is associated with a high risk of developing lung and liver disease. Despite being one of the most common hereditary disorders worldwide, AATD remains under-diagnosed and prolonged delays in diagnosis are usual. The aim of this study was to validate the use of buccal swab samples and serum circulating DNA for the complete laboratory study of AATD. METHODS: Sixteen buccal swab samples from previously characterized AATD patients were analyzed using an allele-specific genotyping assay and sequencing method...
January 20, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28106051/hepatic-alterations-are-accompanied-by-changes-to-bile-acid-transporter-expressing-neurons-in-the-hypothalamus-after-traumatic-brain-injury
#2
Damir Nizamutdinov, Sharon DeMorrow, Matthew McMillin, Jessica Kain, Sanjib Mukherjee, Suzanne Zeitouni, Gabriel Frampton, Paul Clint S Bricker, Jacob Hurst, Lee A Shapiro
Annually, there are over 2 million incidents of traumatic brain injury (TBI) and treatment options are non-existent. While many TBI studies have focused on the brain, peripheral contributions involving the digestive and immune systems are emerging as factors involved in the various symptomology associated with TBI. We hypothesized that TBI would alter hepatic function, including bile acid system machinery in the liver and brain. The results show activation of the hepatic acute phase response by 2 hours after TBI, hepatic inflammation by 6 hours after TBI and a decrease in hepatic transcription factors, Gli 1, Gli 2, Gli 3 at 2 and 24 hrs after TBI...
January 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28101459/venlafaxine-induced-cytotoxicity-towards-isolated-rat-hepatocytes-involves-oxidative-stress-and-mitochondrial-lysosomal-dysfunction
#3
Elham Ahmadian, Hossein Babaei, Alireza Mohajjel Nayebi, Aziz Eftekhari, Mohammad Ali Eghbal
Purpose: Depression is a public disorder worldwide. Despite the widespread use of venlafaxine in the treatment of depression, it has been associated with the incidence of toxicities. Hence, the goal of the current investigation was to evaluate the mechanisms of venlafaxine-induced cell death in the model of the freshly isolated rat hepatocytes. Methods: Collagenase-perfused rat hepatocytes were treated with venlafaxine and other agents. Cell damage, reactive oxygen species (ROS) formation, lipid peroxidation, mitochondrial membrane potential decline, lysosomal damage, glutathione (GSH) level were analyzed...
December 2016: Advanced Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28101307/review-and-recommendations-on-management-of-adult-female-thalassemia-patients-with-hypogonadism-based-on-literature-review-and-experience-of-icet-a-network-specialists
#4
REVIEW
Vincenzo De Sanctis, Ashraf T Soliman, Heba Elsedfy, Alice Albu, Soad Al Jaouni, Salvatore Anastasi, Maria Grazia Bisconte, Duran Canatan, Soteroula Christou, Shahina Daar, Salvatore Di Maio, Mohamed El Kholy, Doaa Khater, Mohamed Elshinawy, Yurdanur Kilinc, Roberto Mattei, Hala H Mosli, Alessandra Quota, Maria Grazia Roberti, Praveen Sobti, Saif Al Yaarubi, Saveria Canpisi, Christos Kattamis
BACKGROUND: Multi-transfused thalassemia major (TM) patients frequently develop severe endocrine complications, mainly due to iron overload, anemia, and chronic liver disease, which require prompt diagnosis, treatment and follow-up by specialists. The most common endocrine complication documented is hypogonadotropic hypogonadism which increases with age and associated comorbidities. It is thus important for physicians to have a clear understanding of the pathophysiology and management of this disorder...
2017: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/28100844/phospholipids-and-products-of-their-hydrolysis-as-dietary-preventive-factors-for-civilization-diseases
#5
Karol Parchem, Agnieszka Bartoszek
The results of numerous epidemiological studies indicate that phospholipids play an important role in the prevention of chronic diseases faced by contemporary society. Firstly, these compounds are responsible for the proper functioning of cell membranes, by ensuring liquidity and permeability, which is pivotal for normal activity of membrane proteins, including receptors. These mechanisms are at the core of prevention of cancer, autoimmune or neurological disorders. Secondly, structure and properties of phospholipids cause that they are highly available source of biologically active fatty acids...
December 31, 2016: Postȩpy Higieny i Medycyny Doświadczalnej
https://www.readbyqxmd.com/read/28100702/zanthoxylum-alkylamides-ameliorate-protein-metabolism-disorder-in-stz-induced-diabetic-rats
#6
Tingyuan Ren, Zhu Yu Ping, Xuejuan Xia, Ding Bo Yong, Guo Jing, Kan Jian Quan
This study aimed to evaluate the protein metabolism effect of Zanthoxylum alkylamides and to explore the potential mechanism in streptozotocin (STZ)-induced diabetic rats. Diabetic rats were orally treated with 2, 4 and 8 mg per kg bw of alkylamides daily for 28 days. Alkylamides decreased the relative weight of the liver and food intake, significantly increased the relative skeletal muscle weight and significantly decreased the blood urea nitrogen levels. Insulin, insulin-like growth factor I, total protein (TP) and albumin (ALB), globular proteins and ALB proteins/globulin protein levels in serum significantly increased...
January 18, 2017: Journal of Molecular Endocrinology
https://www.readbyqxmd.com/read/28100328/-repeated-yellowing-of-the-skin-and-sclera-for-2-years
#7
Xiao-Ye Yuan, Xiang-Ling He, Hui Zou, Run-Ying Zou
A two-year-old girl was admitted due to repeated yellowing of the skin and sclera for 2 years and had no other specific symptoms or signs. The use of phenobarbital could relieve the symptoms of jaundice. Multiple examinations showed increased indirect bilirubin levels, and the results of aminotransferases and liver imaging were normal. There was no evidence of hemolysis. The analysis of UGT1A1 gene in her family found that this child had double homozygous mutation of c.211G>A(G71R) and c.1456T>G(Y486D), which had been reported as the pathogenic mutation for Gilbert syndrome...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28099477/chronic-maternal-low-protein-diet-in-mice-affects-anxiety-night-time-energy-expenditure-and-sleep-patterns-but-not-circadian-rhythm-in-male-offspring
#8
Randy F Crossland, Alfred Balasa, Rajesh Ramakrishnan, Sangeetha K Mahadevan, Marta L Fiorotto, Ignatia B Van den Veyver
Offspring of murine dams chronically fed a protein-restricted diet have an increased risk for metabolic and neurobehavioral disorders. Previously we showed that adult offspring, developmentally exposed to a chronic maternal low-protein (MLP) diet, had lower body and hind-leg muscle weights and decreased liver enzyme serum levels. We conducted energy expenditure, neurobehavioral and circadian rhythm assays in male offspring to examine mechanisms for the body-weight phenotype and assess neurodevelopmental implications of MLP exposure...
2017: PloS One
https://www.readbyqxmd.com/read/28099469/the-prevalence-of-nonalcoholic-fatty-liver-disease-and-related-metabolic-comorbidities-was-associated-with-age-at-onset-of-moderate-to-severe-plaque-psoriasis-a-cross-sectional-study
#9
Xin Xu, Lina Su, Yunlu Gao, Yangfeng Ding
Nonalcoholic fatty liver disease (NAFLD) has been found to be highly prevalent in psoriatic patients. Adult onset psoriasis could be divided into either early or late onset psoriasis. The associations between NAFLD and related metabolic comorbidities and age at onset of psoriasis have not yet been investigated. Our study was to evaluate the associations between prevalence of NAFLD and related metabolic conditions and early, late, and childhood onset psoriasis. A cross-sectional observational study was conducted on patients with moderate to severe plaque psoriasis...
2017: PloS One
https://www.readbyqxmd.com/read/28098880/the-role-of-gap-junctions-in-inflammatory-and-neoplastic-disorders-review
#10
Pui Wong, Victoria Laxton, Saurabh Srivastava, Yin Wah Fiona Chan, Gary Tse
Gap junctions are intercellular channels made of connexin proteins, mediating both electrical and biochemical signals between cells. The ability of gap junction proteins to regulate immune responses, cell proliferation, migration, apoptosis and carcinogenesis makes them attractive therapeutic targets for treating inflammatory and neoplastic disorders in different organ systems. Alterations in gap junction profile and expression levels are observed in hyperproliferative skin disorders, lymphatic vessel diseases, inflammatory lung diseases, liver injury and neoplastic disorders...
January 17, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28098112/autosomal-dominant-polycystic-kidney-disease-study-of-clinical-characteristics-in-an-indian-population
#11
Sanjay Vikrant, Anupam Parashar
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary form of kidney disease. Clinical data on this multisystem disorder are scarce from developing countries. We conducted a prospective observational study of the clinical profile of ADPKD patients at a single center over a period of six years. A total of 208 patients were studied. Majority were male (60.6%) and the mean age was 45.8 ± 14.5 years. About 61.5% had early stage (Stages 1-3) of chronic kidney disease (CKD) and 38.5% had advanced CKD (Stages 4 and 5)...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28097854/-citrullinemia-type-i-with-recurrent-liver-failure-in-a-child
#12
Verónica Bindi, Hernán Eiroa
Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyperammonemia leading to death if treatment is not established. Initial symptoms of disorders of the urea cycle include neurological impairment with mild or moderate liver damage. We report a case of recurrent liver failure in an infant diagnosed with type I citrullinemia without severe neurological involvement that was referred to our center for liver transplantation...
1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28097080/immunoglobulin-m-nephropathy-in-a-patient-with-wilson-s-disease
#13
Zain Ul Abideen, Zoya Sajjad, Asna Haroon Khan, Nadira Mamoon, Muhammad Bilal, Khaja Hameeduddin Mujtaba Quadri
Immunoglobulin M nephropathy (IgMN) is characterized by the deposition of immunoglobulin M in a dominant distribution in the renal glomeruli. Primary immunoglobulin M nephropathy is diagnosed after consistent light microscopy (LM), immunofluorescence (IF), electron microscopy (EM) results, and exclusion of known systemic disorders causing immunoglobulin M deposition in the glomeruli. The secondary disease has been reported with a few conditions though it has never been reported with any primary disease of the liver...
December 13, 2016: Curēus
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#14
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28095910/profile-of-bioactive-compounds-in-nymphaea-alba-l-leaves-growing-in-egypt-hepatoprotective-antioxidant-and-anti-inflammatory-activity
#15
Riham Omar Bakr, Mona Mohamed El-Naa, Soumaya Saad Zaghloul, Mahmoud Mohamed Omar
BACKGROUND: Nymphaea alba L. represents an interesting field of study. Flowers have antioxidant and hepatoprotective effects, rhizomes constituents showed cytotoxic activity against liver cell carcinoma, while several Nymphaea species have been reported for their hepatoprotective effects. Leaves of N. alba have not been studied before. Therefore, in this study, in-depth characterization of the leaf phytoconstituents as well as its antioxidant and hepatoprotective activities have been performed where N...
January 17, 2017: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#16
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28095362/in-vivo-modulation-of-lps-induced-leukotrienes-generation-and-oxidative-stress-by-sesame-lignans
#17
Puttaraju Srikantamurthy Yashaswini, Bettadahalli Sadashivaiah, Talahalli Ravichandra Ramaprasad, Sridevi Annapurna Singh
The role of inflammation and oxidative stress is critical during onset of metabolic disorders and this has been sufficiently established in literature. In the present study, we evaluated the effects of sesamol and sesamin, two important bioactive molecules present in sesame oil, on the generation of inflammatory and oxidative stress factors in LPS injected rats. Sesamol and sesamin lowered LPS induced expression of cPLA2 (61 and 56%), 5-LOX (44 and 51%), BLT-1(32 and 35%) and LTC4 synthase (49 and 50%), respectively, in liver homogenate...
December 29, 2016: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#18
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKGROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28094192/risk-factors-for-revision-surgery-following-isolated-ulnar-nerve-release-at-the-cubital-tunnel-a-study-of-25-977-cases
#19
Christopher L Camp, Claire B Ryan, Ryan M Degen, Joshua S Dines, David W Altchek, Brian C Werner
BACKGROUND: The literature investigating risk factors for failure after decompression of the ulnar nerve at the elbow (cubital tunnel release [CuTR]) is limited. The purpose of this study was to identify risk factors for failure of isolated CuTR, defined as progression to subsequent ipsilateral revision surgery. METHODS: The 100% Medicare Standard Analytic Files from 2005 to 2012 were queried for patients undergoing CuTR. Patients undergoing any concomitant procedures were excluded...
January 13, 2017: Journal of Shoulder and Elbow Surgery
https://www.readbyqxmd.com/read/28091794/the-impact-of-liver-disorders-on-perioperative-management-of-reoperative-cardiac-surgery-a-retrospective-study-in-adult-congenital-heart-disease-patients
#20
Koko Adachi, Hiroaki Toyama, Yu Kaiho, Osamu Adachi, Hiroto Hudeta, Masanori Yamauchi
PURPOSE: We evaluated the preoperative prevalence of risk factors for liver disorders and the relationship between the liver disorders and perioperative outcomes in adult congenital heart disease (ACHD) patients. METHODS: This retrospective study included 32 ACHD patients who underwent reoperative cardiac surgery. RESULTS: Preoperatively, 38% of the study patients had risk factors, including congestive liver (CL) due to right heart failure (31%), chronic hepatitis C (HC) (22%), and both CL and HC (16%)...
January 16, 2017: Journal of Anesthesia
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