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https://www.readbyqxmd.com/read/29346549/transcriptome-and-functional-analysis-in-a-drosophila-model-of-ngly1-deficiency-provides-insight-into-therapeutic-approaches
#1
Katie G Owings, Joshua B Lowry, Yiling Bi, Matthew Might, Clement Y Chow
Autosomal recessive loss-of-function mutations in N-Glycanase 1 (NGLY1) cause NGLY1 deficiency, the only known human disease of deglycosylation. Patients present with developmental delay, movement disorder, seizures, liver dysfunction, and alacrima. NGLY1 is a conserved cytoplasmic component of the Endoplasmic Reticulum Associated Degradation (ERAD) pathway. ERAD clears misfolded proteins from the ER lumen. However, it is unclear how loss of NGLY1 function impacts ERAD and other cellular processes and results in the constellation of problems associated with NGLY1 deficiency...
January 15, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29345251/cancer-associated-cachexia
#2
REVIEW
Vickie E Baracos, Lisa Martin, Murray Korc, Denis C Guttridge, Kenneth C H Fearon
Cancer-associated cachexia is a disorder characterized by loss of body weight with specific losses of skeletal muscle and adipose tissue. Cachexia is driven by a variable combination of reduced food intake and metabolic changes, including elevated energy expenditure, excess catabolism and inflammation. Cachexia is highly associated with cancers of the pancreas, oesophagus, stomach, lung, liver and bowel; this group of malignancies is responsible for half of all cancer deaths worldwide. Cachexia involves diverse mediators derived from the cancer cells and cells within the tumour microenvironment, including inflammatory and immune cells...
January 18, 2018: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/29344472/status-epilepticus-as-an-unusual-manifestation-of-heat-stroke
#3
Won Gu Lee, So-Young Huh, Jin-Hyung Lee, Bong Goo Yoo, Meyung Kug Kim
Heat stroke (HS) is a medical emergency and life threatening condition, characterized by body temperature over 40°C. This can lead to dysfunction of multiple organs such as the heart, liver, kidneys, lungs, blood coagulation system, and central nervous system. Neurological complications include change in consciousness, cerebellar dysfunction, convulsions, aphasia, muscular weakness, and parkinsonism. Cerebellar syndrome is the most common neurological finding in HS. We report a case of HS presenting with status epilepticus, without any other neurological manifestations...
December 2017: Journal of Epilepsy Research
https://www.readbyqxmd.com/read/29343420/ampk-re-activation-suppresses-hepatic-steatosis-but-its-downregulation-does-not-promote-fatty-liver-development
#4
Nadia Boudaba, Allison Marion, Camille Huet, Rémi Pierre, Benoit Viollet, Marc Foretz
Nonalcoholic fatty liver disease is a highly prevalent component of disorders associated with disrupted energy homeostasis. Although dysregulation of the energy sensor AMP-activated protein kinase (AMPK) is viewed as a pathogenic factor in the development of fatty liver its role has not been directly demonstrated. Unexpectedly, we show here that liver-specific AMPK KO mice display normal hepatic lipid homeostasis and are not prone to fatty liver development, indicating that the decreases in AMPK activity associated with hepatic steatosis may be a consequence, rather than a cause, of changes in hepatic metabolism...
January 9, 2018: EBioMedicine
https://www.readbyqxmd.com/read/29343286/diagnosis-and-management-of-transthyretin-familial-amyloid-polyneuropathy-in-japan-red-flag-symptom-clusters-and-treatment-algorithm
#5
REVIEW
Yoshiki Sekijima, Mitsuharu Ueda, Haruki Koike, Sonoko Misawa, Tomonori Ishii, Yukio Ando
Hereditary ATTR (ATTRm) amyloidosis (also called transthyretin-type familial amyloid polyneuropathy [ATTR-FAP]) is an autosomal-dominant, adult-onset, rare systemic disorder predominantly characterized by irreversible, progressive, and persistent peripheral nerve damage. TTR gene mutations (e.g. replacement of valine with methionine at position 30 [Val30Met (p.Val50Met)]) lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, which form amyloid fibrils that deposit in peripheral nerves and various organs, giving rise to peripheral and autonomic neuropathy and several non-disease specific symptoms...
January 17, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29340742/-wilson-disease
#6
D Huster
Wilson disease is a rare hereditary disorder of copper metabolism. The genetic defect is caused by various mutations in the copper-transporting enzyme ATP7B, located mainly in the liver and brain. Clinical symptoms are highly variable, with any combination of hepatic and/or neurological or psychiatric manifestations. The age of onset varies from early childhood to young adults and can even be manifested in later ages. The clinical diagnosis is based on a combination of clinical, biochemical and molecular markers...
January 16, 2018: Der Internist
https://www.readbyqxmd.com/read/29339192/tissue-specific-differences-in-mitochondrial-dna-maintenance-and-expression
#7
Elena Herbers, Nina J Kekäläinen, Anu Hangas, Jaakko L Pohjoismäki, Steffi Goffart
The different cell types of multicellular organisms have specialized physiological requirements, affecting also their mitochondrial energy production and metabolism. The genome of mitochondria is essential for mitochondrial oxidative phosphorylation (OXHPOS) and thus plays a central role in many human mitochondrial pathologies. Disorders affecting mitochondrial DNA (mtDNA) maintenance are typically resulting in a tissue-specific pattern of mtDNA deletions and rearrangements. Despite this role in disease as well as a biomarker of mitochondrial biogenesis, the tissue-specific parameters of mitochondrial DNA maintenance have been virtually unexplored...
January 12, 2018: Mitochondrion
https://www.readbyqxmd.com/read/29336635/lymphomatoid-granulomatosis-in-a-14-year-old-boy-with-trisomy-21-and-history-of-b-lymphoblastic-leukemia-lymphoma
#8
Anna Paulina Matynia, Sherrie L Perkins, David Li
BACKGROUND: Lymphomatoid granulomatosis is a EBV-driven lymphoproliferative disorder that has been reported in association with immunodeficiency, but only exceptionally in patients with hematopoietic malignancy. CASE REPORT: A 14-year-old boy with trisomy-21 and a history of B-lymphoblastic leukemia/lymphoma (B-ALL) diagnosed 1.5 years prior, on maintenance chemotherapy, presented with fever and respiratory symptoms. Chest X-ray revealed right-lower-lobe consolidation...
January 16, 2018: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29336434/acg-clinical-guideline-alcoholic-liver-disease
#9
Ashwani K Singal, Ramon Bataller, Joseph Ahn, Patrick S Kamath, Vijay H Shah
Alcoholic liver disease (ALD) comprises a clinical-histologic spectrum including fatty liver, alcoholic hepatitis (AH), and cirrhosis with its complications. Most patients are diagnosed at advanced stages and data on the prevalence and profile of patients with early disease are limited. Diagnosis of ALD requires documentation of chronic heavy alcohol use and exclusion of other causes of liver disease. Prolonged abstinence is the most effective strategy to prevent disease progression. AH presents with rapid onset or worsening of jaundice, and in severe cases may transition to acute on chronic liver failure when the risk for mortality, depending on the number of extra-hepatic organ failures, may be as high as 20-50% at 1 month...
January 16, 2018: American Journal of Gastroenterology
https://www.readbyqxmd.com/read/29336270/in-silico-ligand-based-identification-of-novel-acetylcholinesterase-inhibitors-against-alzheimer-s-disease-ad
#10
Mohammad Usman Mirza, Nazia Ikram, Nauman Mazhar, Kanzal Iman, Mehwish Riaz, Mohammad A Kamal
Alzheimer disease (AD) is a hot research topic currently across the world, characterized by the formation of β-amyloid plaques and neurofibrillary tangles. Inhibition of acetylcholinesterase (AChE) has gained much importance since the discovery of the involvement of peripheral anionic site (PAS) as an allosteric regulator of AChE. Progression of this neurodegenerative disorder causes a deficit in the cholinergic activity that leads towards cognitive decline. Therapeutic interventions in AD are largely focused upon AChE inhibitors designed essentially to prevent the loss of cholinergic function...
January 15, 2018: CNS & Neurological Disorders Drug Targets
https://www.readbyqxmd.com/read/29335689/psoriasis-a-review-of-systemic-comorbidities-and-dental-management-considerations
#11
John K Brooks
OBJECTIVE: There is a growing body of evidence to substantiate that cutaneous psoriasis is associated with an increased risk for a multitude of systemic disorders. Although there is an extensive array of medical publications regarding psoriasis, the dental literature has almost exclusively been focused on erythema migrans and occasionally, with oral psoriatic mucositis, chronic periodontitis, and psoriatic arthritis of the temporomandibular joint. This report will review the diversity of systemic comorbidities, namely cardiovascular, neurologic, renal, liver, gastrointestinal, pulmonary, endocrine, ocular, arthritic (including temporomandibular joint), nail, cutaneous, and psychologic (including suicide) disorders; neoplasia; infection; dyslipidemia; vitamin D deficiency; substance abuse; higher mortality; and oral mucosal involvement...
January 15, 2018: Quintessence International
https://www.readbyqxmd.com/read/29334749/-unusual-history-of-wilson-disease-a-case-report-and-review-of-the-literature
#12
František Nehaj, Marianna Kubašková, Michal Mokáň, Juraj Sokol, Vladimír Nosáľ, Kamil Zeleňák, Marián Mokáň
Wilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form...
2018: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29333079/type-1-autoimmune-hepatitis-presenting-with-severe-autoimmune-neutropenia
#13
Petros Doumtsis, Theodora Oikonomou, Ioannis Goulis, Kaliopi Zachou, George Dalekos, Evangelos Cholongitas
Autoimmune hepatitis (AIH) is a progressive, chronic liver disease characterized by unresolving hepatocellular inflammation of autoimmune origin. The clinical spectrum may vary from asymptomatic presentation, to non-specific symptoms such as fatigue, arthralgias, nausea and abdominal pain, to acute severe liver disease. AIH is characterized by the presence of interface hepatitis and portal plasma cell infiltration on histological examination, hypergammaglobulinemia, and positive autoantibodies. AIH is associated with other autoimmune diseases and its course is often accompanied by various non-specific hematological disorders...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29333065/hepatitis-c-infection-in-patients-with-hereditary-bleeding-disorders-epidemiology-natural-history-and-management
#14
REVIEW
Nikolaos Papadopoulos, Vasiliki Argiana, Melanie Deutsch
Hereditary bleeding disorders include a group of diseases with abnormalities of coagulation. Prior to 1990, infection with hepatitis C virus (HCV) was mainly transmitted via pooled plasma products as a treatment for hereditary bleeding disorders. Anti-HCV positivity in these patients may be as high as >70% in some areas, while some of them have also been coinfected with human immunodeficiency virus. Since about 20% of HCV-infected patients clear the infection naturally, chronic HCV infection represents a significant health problem in this group of patients...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332607/the-role-of-t2-weighted-gradient-echo-in-the-diagnosis-of-tumefactive-intrahepatic-extramedullary-hematopoiesis-in-myelodysplastic-syndrome-and-diffuse-hepatic-iron-overload-a-case-report-and-review-of-the-literature
#15
Abel A Belay, Andrew M Bellizzi, Alan H Stolpen
BACKGROUND: Extramedullary hematopoiesis is the proliferation of hematopoietic cells outside bone marrow secondary to marrow hematopoiesis failure. Extramedullary hematopoiesis rarely presents as a mass-forming hepatic lesion; in this case, imaging-based differentiation from primary and metastatic hepatic neoplasms is difficult, often leading to biopsy for definitive diagnosis. We report a case of tumefactive hepatic extramedullary hematopoiesis in the setting of myelodysplastic syndrome with concurrent hepatic iron overload, and the role of T2*-weighted gradient-echo magnetic resonance imaging in differentiating extramedullary hematopoiesis from primary and metastatic hepatic lesions...
January 15, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29332143/conjunction-of-g-quadruplex-and-stem-loop-in-the-5-untranslated-region-of-mouse-hepatocyte-nuclear-factor-4-alpha1-mediates-strong-inhibition-of-protein-expression
#16
Shangdong Guo, Hong Lu
Hepatocyte nuclear factor 4-alpha (HNF4α) is a well-established master regulator of liver development and function. Restoration of HNF4α can treat multiple liver disorders and liver cancers. To date, HNF4α is still "undruggable" due to lack of known activating ligands. Thus, understanding the regulatory mechanism of HNF4α expression may help develop an alternative approach to modulate HNF4α protein levels. G-quadruplexes (G4) are non-canonical stable secondary structures discovered mostly in the promoters of oncogenes...
January 13, 2018: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/29331340/hsp72-protects-from-liver-injury-via-attenuation-of-hepatocellular-death-oxidative-stress-and-jnk-signaling
#17
Kateryna Levada, Nurdan Guldiken, Xiaoji Zhang, Giovanna Vella, Fa-Rong Mo, Laura P James, Johannes Haybaeck, Sonja M Kessler, Alexandra K Kiemer, Thomas Ott, Daniel Hartmann, Norbert Hüser, Marianne Ziol, Christian Trautwein, Pavel Strnad
BACKGROUND AND AIMS: Heat shock protein (Hsp) 72 is a molecular chaperone that is upregulated in response to stress and possesses broad cytoprotective functions. To determine its hepatic function, we studied its expression in human liver disorders and its biological significance in newly generated transgenic animals. AIM AND METHODS: Double transgenic mice overexpressing Hsp72 (gene HSPA1A) under the control of a tissue-specific tetracycline-inducible system (Hsp72-LAP mice) were produced...
January 10, 2018: Journal of Hepatology
https://www.readbyqxmd.com/read/29330965/intra-hepatic-bile-duct-primary-cilia-in-biliary-atresia
#18
Roberta Frassetto, Filippo Parolini, Salvatore Marceddu, Giulia Satta, Valeria Papacciuoli, Maria Antonia Pinna, Alessandra Mela, Giannina Secchi, Grazia Galleri, Roberto Manetti, Luisa Bercich, Vincenzo Villanacci, Antonio Dessanti, Roberto Antonucci, Francesco Tanda, Daniele Alberti, Kathleen B Schwarz, Maria Grazia Clemente
AIM: The etiopathogenesis of non-syndromic biliary atresia (BA) is obscure. The primary aim was to investigate intra-hepatic bile duct cilia (IHBC) in BA at the diagnosis and correlation with clinical outcome. The secondary aim was to analyze IHBC in routine paraffin-embedded liver biopsies using conventional scanning electron microscopy (SEM). METHODS: Surgical liver biopsies taken at the diagnosis from 22 BA infants (age range: 39 - 116 days) and from 8 children with non-BA chronic cholestasis (age range: 162 days -16,8 years) were evaluated for IHBC, both by immunofluorescence (IF) and by SEM...
January 13, 2018: Hepatology Research: the Official Journal of the Japan Society of Hepatology
https://www.readbyqxmd.com/read/29330881/cocaine-and-hiv-1-tat-disrupt-cholesterol-homeostasis-in-astrocytes-implications-for-hiv-associated-neurocognitive-disorders-in-cocaine-user-patients
#19
Bianca Cotto, Kalimuthusamy Natarajaseenivasan, Kimberly Ferrero, Leroy Wesley, Matthew Sayre, Dianne Langford
Cholesterol synthesis and clearance by astrocytes are tightly regulated to maintain constant levels within the brain. In this context, liver X receptors (LXRs) are the master regulators of cholesterol homeostasis in the central nervous system (CNS). Increasing levels of cholesterol in astrocytes trigger LXR activation leading to the transcription of target genes involved in cholesterol trafficking and efflux, including apolipoprotein E, cytochrome P450 enzymes, sterol regulatory binding protein, and several ATP-binding cassette transporter proteins...
January 13, 2018: Glia
https://www.readbyqxmd.com/read/29327821/chronic-kidney-disease-in-patients-with-chronic-hepatitis-c-virus-infection
#20
Omer Shahab, Pegah Golabi, Zobair M Younossi
Hepatitis C virus (HCV) infection affects many organs in the body, including the liver, kidneys, skin, joints and others. Although the hepatic manifestation of HCV has been widely studied, the extrahepatic manifestaions of HCV have not been fully appreciated. Studies have shown that patients with HCV have a higher risk of chronic kidney disease and end-stage renal disease, as well as poorer outcomes after kidney transplantation. Given these findings, it is important to screen HCV patients for presence of renal impairement in a timely manner...
January 10, 2018: Minerva Gastroenterologica e Dietologica
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