keyword
MENU ▼
Read by QxMD icon Read
search

liver disorders

keyword
https://www.readbyqxmd.com/read/28335084/identification-of-new-bmp6-pro-peptide-mutations-in-patients-with-iron-overload
#1
Chiara Piubelli, Annalisa Castagna, Giacomo Marchi, Monica Rizzi, Fabiana Busti, Sadaf Badar, Monia Marchetti, Marco De Gobbi, Antonella Roetto, Luciano Xumerle, Eda Suku, Alejandro Giorgetti, Massimo Delledonne, Oliviero Olivieri, Domenico Girelli
Hereditary Hemochromatosis (HH) is a genetically heterogeneous disorder caused by mutations in at least 5 different genes (HFE, HJV, TFR2, SLC40A1, HAMP) involved in the production or activity of the liver hormone hepcidin, a key regulator of systemic iron homeostasis. Nevertheless, patients with an HH-like phenotype that remains completely/partially unexplained despite extensive sequencing of known genes are not infrequently seen at referral centers, suggesting a role of still unknown genetic factors. A compelling candidate is Bone Morphogenetic Protein 6 (BMP6), which acts as a major activator of the BMP-SMAD signaling pathway, ultimately leading to the upregulation of hepcidin gene transcription...
March 23, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28333714/novel-regulators-of-plasma-lipid-levels
#2
Natalia Loaiza, Federico Oldoni, Jan A Kuivenhoven
PURPOSE OF REVIEW: To highlight very recent studies identifying novel regulatory molecules and mechanisms in plasma lipid metabolism. RECENT FINDINGS: Two novel regulatory mechanisms of LDL receptor (LDLR) intracellular trafficking have been described. The "COMMD/CCDC22/CCDC93" and "Wiskott-Aldrich syndrome protein and SCAR homologue" complexes were found to be involved in LDLR endosomal sorting and recycling, whereas the GRP94 was shown to protect LDLR from early degradation within the hepatocyte secretory pathway...
March 22, 2017: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/28332779/intrafamilial-phenotypic-variability-in-a-polish-family-with-sensenbrenner-syndrome-and-biallelic-wdr35-mutations
#3
Joanna Walczak-Sztulpa, Anna Wawrocka, Agata Sobierajewicz, Lukasz Kuszel, Jan Zawadzki, Ryszard Grenda, Anna Swiader-Lesniak, Beata Kocyla-Karczmarewicz, Anna Wnuk, Anna Latos-Bielenska, Krystyna H Chrzanowska
Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy. Cranioectodermal dysplasia is characterized by craniofacial, skeletal, and ectodermal abnormalities. About 50 patients have been described to date. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disorder. Mutations in five genes: IFT122, WDR35, IFT43, WDR19, and IFT52 have been associated with CED. All known genes encode proteins that are part of the intraflagellar transport complex, which plays an important role in the assembly and maintenance of cilia...
March 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28332028/infection-profile-in-chronic-granulomatous-disease-a-23-year-experience-from-a-tertiary-care-center-in-north-india
#4
Amit Rawat, Pandiarajan Vignesh, Avinash Sharma, Jitendra K Shandilya, Madhubala Sharma, Deepti Suri, Anju Gupta, Vikas Gautam, Pallab Ray, Shivaprakash M Rudramurthy, Arunaloke Chakrabarti, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Yu L Lau, Surjit Singh
PURPOSE: Chronic granulomatous disease (CGD) is an inherited phagocytic disorder characterized by recurrent infections with usually catalase-positive organisms. Infections in CGD from developing countries are expected to be different from those in the Western countries. We report the profile of infections in children diagnosed with CGD from a tertiary care center in North India. METHODOLOGY: Case records of children diagnosed with CGD at Pediatric Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India, from August 1993 to April 2016 (23 years) were analyzed...
March 22, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28331131/the-aggressive-clinical-courses-of-hodgkin-lymphoma-primarily-diagnosed-as-methotrexate-induced-non-specific-lymphoproliferative-disorder-in-patients-with-rheumatoid-arthritis
#5
Michihide Tokuhira, Takayuki Tabayashi, Yuka Tanaka, Yasuyuki Takahashi, Yuta Kimura, Tatsuki Tomikawa, Tomoe Anan-Nemoto, Shuju Momose, Morihiro Higashi, Ayumi Okuyama, Reiko Watanabe, Koichi Amano, Jun-Ichi Tamaru, Masahiro Kizaki
Recently, attention has been focused on methotrexate-induced lymphoproliferative disease (MTX-LPD), and atypical phenotypes are occasionally documented. We encountered two patients with rheumatoid arthritis (RA) who were diagnosed with non-specific LPD (LPD-nos). Biopsy samples were not obtained during the initial examination when the LPD development was discovered, and the patients achieved a complete response after MTX cessation (case 1) or steroid pulse therapy (case 2). However, the tumors flared up 1.5 years later, and LPD-nos was determined following biopsies of the lymph node (LN, case 1) and liver (case 2)...
2017: Journal of Clinical and Experimental Hematopathology: JCEH
https://www.readbyqxmd.com/read/28330852/a-controlled-release-mitochondrial-protonophore-reverses-hypertriglyceridemia-nonalcoholic-steatohepatitis-and-diabetes-in-lipodystrophic-mice
#6
Abudukadier Abulizi, Rachel J Perry, João Paulo G Camporez, Michael J Jurczak, Kitt Falk Petersen, Patricia Aspichueta, Gerald I Shulman
Lipodystrophy is a rare disorder characterized by complete or partial loss of adipose tissue. Patients with lipodystrophy exhibit hypertriglyceridemia, severe insulin resistance, type 2 diabetes, and nonalcoholic steatohepatitis (NASH). Efforts to ameliorate NASH in lipodystrophies with pharmacologic agents have met with limited success. We examined whether a controlled-release mitochondrial protonophore (CRMP) that produces mild liver-targeted mitochondrial uncoupling could decrease hypertriglyceridemia and reverse NASH and diabetes in a mouse model (fatless AZIP/F-1 mice) of severe lipodystrophy and diabetes...
March 22, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28330575/clinical-management-of-the-homozygous-%C3%AE-thalassemia-with-unusual-mandibular-manifestation-of-hematopoiesis
#7
J A Ruiz-Roca, R E Oñate-Sánchez, I Urrutia-Rodríguez, A Martínez-Izquierdo, D Mengual-Pujante, F J Rodríguez-Lozano
Alpha (α)-thalassemias are the most common genetic disorder of hemoglobin (Hb) synthesis, affecting up to 5% of the world's population. These congenital hemolytic anemias induce extramedullary hematopoiesis, including the liver, spleen, sinuses, and the diploic spaces of the skull. Oral health problems in patients with thalassemias are mostly related to a varied degree of facial deformities, malocclusions, and/or dental arch dimensions. We present a case with a 49-year-old man, diagnosed with homozygous α thalassemia that came to the Faculty of Dentistry at the University of Murcia for a dental treatment...
February 2017: J Stomatol Oral Maxillofac Surg
https://www.readbyqxmd.com/read/28329305/association-between-spousal-suicide-and-mental-physical-and-social-health-outcomes-a-longitudinal-and-nationwide-register-based-study
#8
Annette Erlangsen, Bo Runeson, James M Bolton, Holly C Wilcox, Julie L Forman, Jesper Krogh, M Katherine Shear, Merete Nordentoft, Yeates Conwell
Importance: Bereavement after spousal suicide has been linked to mental disorders; however, a comprehensive assessment of the effect of spousal suicide is needed. Objective: To determine whether bereavement after spousal suicide was linked to an excessive risk of mental, physical, and social health outcomes when compared with the general population and spouses bereaved by other manners. Design, Setting, and Participants: This nationwide, register-based cohort study conducted in Denmark of 6...
March 22, 2017: JAMA Psychiatry
https://www.readbyqxmd.com/read/28327881/feline-platynosomiasis-analysis-of-the-association-of-infection-levels-with-pathological-and-biochemical-findings
#9
Dirceu Guilherme de Souza Ramos, Amanda Raiza Gonçalves Lima Oliveira Santos, Leodil da Costa Freitas, Ísis Assis Braga, Erica Pereira da Silva, Luciana Maria Curtio Soares, Nádia Aline Bobbi Antoniassi, Fernando Henrique Furlan, Richard de Campos Pacheco
Platynosomiasis is a common feline hepatic disease caused by Platynosomum fastosum (Trematoda - Dicrocoelidae), which is also known as 'lizard poisoning'. Most reports of feline platynosomiasis show that this disease is sporadic and manifests with uncommon lesions; its pathogenicity is still not well understood. This study aimed to describe liver injuries and enzymatic changes associated with natural P. fastosum infection in 47 stray cats in an endemic area. Overall, 38.3% (18/47) of cats were parasitized, and 2,358 flukes (P...
March 16, 2017: Revista Brasileira de Parasitologia Veterinária, Brazilian Journal of Veterinary Parasitology
https://www.readbyqxmd.com/read/28327588/pharmacological-inhibition-of-adipose-triglyceride-lipase-corrects-high-fat-diet-induced-insulin-resistance-and-hepatosteatosis-in-mice
#10
Martina Schweiger, Matthias Romauch, Renate Schreiber, Gernot F Grabner, Sabrina Hütter, Petra Kotzbeck, Pia Benedikt, Thomas O Eichmann, Sohsuke Yamada, Oskar Knittelfelder, Clemens Diwoky, Carina Doler, Nicole Mayer, Werner De Cecco, Rolf Breinbauer, Robert Zimmermann, Rudolf Zechner
Elevated circulating fatty acids (FAs) contribute to the development of obesity-associated metabolic complications such as insulin resistance (IR) and non-alcoholic fatty liver disease (NAFLD). Hence, reducing adipose tissue lipolysis to diminish the mobilization of FAs and lower their respective plasma concentrations represents a potential treatment strategy to counteract obesity-associated disorders. Here we show that specific inhibition of adipose triglyceride lipase (Atgl) with the chemical inhibitor, Atglistatin, effectively reduces adipose tissue lipolysis, weight gain, IR and NAFLD in mice fed a high-fat diet...
March 22, 2017: Nature Communications
https://www.readbyqxmd.com/read/28327196/primary-hepatic-angiomyolipoma-immunohistochemistry-and-electron-microscopic-observations-a-case-report
#11
Hidefumi Kubo, Hitoshi Yamazaki, Takemichi Okada, Yoshihito Takahashi, Yatsushi Nishi, Hiroaki Yokomori
BACKGROUND: Hepatic angiomyolipomas are a rare, benign group of mesenchymal tumors in the liver. Hepatic angiomyolipoma is sometimes misdiagnosed as hepatocellular carcinoma, and there is the possibility of a malignant transformation. Hence, the accurate diagnosis of this disorder is necessary. CASE PRESENTATION: A 64-year-old Japanese man was observed to have a space-occupying lesion of 15-mm diameter in the liver during a follow-up examination for a previously resected cecal carcinoma...
March 22, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28326206/chronic-hepatitis-with-liver-granulomas-in-a-patient-with-granuloma-annulare-a-case-report-and-review-of-the-literature
#12
Majid Alsahafi, Mohammed I AlJasser, Sunil Kalia, H M Yang, Alnoor Ramji
Granuloma annulare (GA) is a benign granulomatous skin disorder of unknown etiology. GA is rarely associated with liver diseases. We report a unique case of chronic hepatitis with liver granulomas in a patient with GA. Despite an extensive workup, no clear etiology for the hepatitis was found. Based on the possible immune pathophysiology of GA and the presence of liver granulomas, the patient was treated with prednisone and azathioprine which resulted in complete normalization of the liver enzymes and concurrent improvement of GA...
2017: Case Reports in Gastrointestinal Medicine
https://www.readbyqxmd.com/read/28325476/erectile-dysfunction-in-patients-with-nonalcoholic-fatty-liver-disease
#13
Ahmad Farooq Alsayed Hasanain, Reem Ezzat Mahdy, Ali Mohamed Abdel-Rahman Mahran, Ahmed Serag Mahmoud Safwat, Asmaa Omar Mohamed, Sherif Mohamed Abdel-Aal
BACKGROUND AND STUDY AIMS: There is a lack of studies on erectile dysfunction (ED) in patients diagnosed with nonalcoholic fatty liver disease (NAFLD). The present study aimed to estimate the prevalence of ED in patients with NAFLD and to determine the independent predictors of ED in these patients. PATIENTS AND METHODS: We conducted a prospective, hospital-based study of 192 consecutive male patients with NAFLD. All patients underwent clinical evaluation; abdominal ultrasonography; test for viral hepatitis markers; and estimation of liver chemistry panel, complete blood count, prothrombin time, serum lipids panel, serum testosterone, and fasting serum levels of glucose, insulin, and C-peptide...
March 16, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28324110/effects-of-metreleptin-in-pediatric-patients-with-lipodystrophy
#14
Rebecca J Brown, Cristina Adelia Meehan, Elaine Cochran, Kristina I Rother, David E Kleiner, Mary Walter, Phillip Gorden
Context: Lipodystrophy syndromes are rare disorders of deficient adipose tissue. Metreleptin, a human analog of leptin, improved metabolic abnormalities in mixed cohorts of leptin-deficient children and adults with lipodystrophy. Objective: Determine effects of metreleptin on diabetes, hyperlipidemia, non-alcoholic fatty liver disease (NAFLD), growth, and puberty in leptin-deficient pediatric patients with lipodystrophy. Design: Prospective, single-arm, open-label studies with continuous enrollment since 2000...
January 23, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28322867/bile-acid-analysis-in-human-disorders-of-bile-acid-biosynthesis
#15
REVIEW
Frédéric M Vaz, Sacha Ferdinandusse
Bile acids facilitate the absorption of lipids in the gut, but are also needed to maintain cholesterol homeostasis, induce bile flow, excrete toxic substances and regulate energy metabolism by acting as signaling molecules. Bile acid biosynthesis is a complex process distributed across many cellular organelles and requires at least 17 enzymes in addition to different metabolite transport proteins to synthesize the two primary bile acids, cholic acid and chenodeoxycholic acid. Disorders of bile acid synthesis can present from the neonatal period to adulthood and have very diverse clinical symptoms ranging from cholestatic liver disease to neuropsychiatric symptoms and spastic paraplegias...
March 17, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28322830/antidiabetic-antidyslipidemic-and-toxicity-profile-of-env-2-a-potent-pyrazole-derivative-against-diabetes-and-related-diseases
#16
Eduardo Hernández-Vázquez, Hugo Ocampo-Montalban, Litzia Cerón-Romero, Miguel Cruz, Jaime Gomez-Zamudio, Guadalupe Hiriart-Valencia, Rafael Villalobos-Molina, Angelica Flores-Flores, Samuel Estrada-Soto
Diabetes is a major health problem and a predisposition factor for further degenerative complications and, therefore, novel therapies are urgently needed. Currently, cannabinoid receptor 1 (CB1 receptor) antagonists have been considered as promissory entities for metabolic disorders treatment. Accordingly, the purpose of this work was the evaluation of the sub-acute antidiabetic, anti-hyperglycemic, antidyslipidemic and toxicological profile of ENV-2, a potent hypoglycemic and antioxidant CB1 receptor antagonist...
March 17, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28321033/role-of-spleen-derived-il-10-in-prevention-of-systemic-low-grade-inflammation-by-obesity-review
#17
Koro Gotoh, Kansuke Fujiwara, Manabu Anai, Mitsuhiro Okamoto, Takayuki Masaki, Tetsuya Kakuma, Hirotaka Shibata
Obesity can be associated with systemic low-grade inflammation that leads to obesity-related metabolic disorders. Recent studies raise the possibility that the inflammation in hypothalamus, liver and white adipose tissue (WAT) contributes to the pathogenesis of diet-induced obesity. We focus on the role of interleukin (IL)-10, an anti-inflammatory cytokine produced from spleen in obesity because it is indicated that obesity decreases the expression of pro-inflammatory cytokines in spleen. Obesity results in decrease of IL-10 synthesis from spleen, probably due to reduction of B-cells expression by promoting oxidative stress and apoptosis in spleen...
March 17, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/28320857/regulation-of-very-long-acyl-chain-ceramide-synthesis-by-acyl-coa-binding-protein
#18
Natalia Santos Ferreira, Hanne Engelsby, Ditte Neess, Samuel L Kelly, Giora Volpert, Alfred H Merrill, Anthony H Futerman, Nils J Faergeman
Ceramide and more complex sphingolipids constitute a diverse group of lipids, which serve important roles as structural entities of biological membranes and as regulators of cellular growth, differentiation, and development. Thus, ceramides are vital players in numerous diseases including metabolic and cardiovascular diseases as well as neurological disorders. Here we show that acyl coenzyme A binding protein (ACBP) potently facilitates very-long acyl chain ceramide synthesis. ACBP increases the activity of ceramide synthase 2 (CerS2) by more than 2-fold and CerS3 activity by 7-fold...
March 19, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28320214/progression-of-liver-disease-in-children-and-adults-with-lysosomal-acid-lipase-deficiency
#19
Barbara K Burton, Nancy Silliman, Sachin Marulkar
BACKGROUND AND OBJECTIVE: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917). METHODS: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation...
March 21, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28319895/impact-of-high-cholesterol-and-endoplasmic-reticulum-stress-on-metabolic-diseases-an-updated-mini-review
#20
REVIEW
Erdi Sozen, Nesrin Kartal Ozer
Endoplasmic reticulum (ER) is the major site of protein folding and calcium storage. Beside the role of ER in protein homeostasis, it controls the cholesterol production and lipid-membrane biosynthesis as well as surviving and cell death signaling mechanisms in the cell. It is well-documented that elevated plasma cholesterol induces adverse effects in cardiovascular diseases (CVDs), liver disorders, such as non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatosis hepatitis (NASH), and metabolic diseases which are associated with oxidative and ER stress...
March 6, 2017: Redox Biology
keyword
keyword
32722
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"