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https://www.readbyqxmd.com/read/28433098/wilson-disease-in-children
#1
Eve A Roberts, Piotr Socha
Wilson disease (WD) is an inherited disorder mainly of hepatocellular copper disposition, due to dysfunction of the Wilson ATPase, a P1B-ATPase encoded by the gene ATP7B. In children, as in older age brackets, clinical disease is highly diverse. Although hepatic disease is the common presentation in children/adolescents, neurologic, psychiatric, and hematologic clinical presentations do occur. Very young children may have clinically evident liver disease due to WD. Early diagnosis, preferably when the child/adolescent is asymptomatic, is most likely to result in near-normal longevity with generally good health so long as the patient tolerates effective medication, is adherent to the lifelong treatment regimen, and has consistent access to the medication...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28428719/safety-and-efficacy-of-tenofovir-in-chronic-hepatitis-b-related-decompensated-cirrhosis
#2
Soon Kyu Lee, Myeong Jun Song, Seok Hyun Kim, Byung Seok Lee, Tae Hee Lee, Young Woo Kang, Suk Bae Kim, Il Han Song, Hee Bok Chae, Soon Young Ko, Jae Dong Lee
AIM: To evaluate the safety and efficacy of tenofovir disoproxil fumarate (TDF) as a first-line therapy in decompensated liver disease. METHODS: We enrolled 174 chronic hepatitis B-related liver cirrhosis patients treated with 300 mg/d TDF at six Korean centers. Of the 174 cirrhosis patients, 57 were assigned to the decompensated cirrhosis group and 117 were assigned to the compensated cirrhosis group. We followed the patients for 12 mo and evaluated clinical outcomes, including biochemical, virological, and serological responses...
April 7, 2017: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28420603/the-coags-uncomplicated-app-fulfilling-educational-gaps-around-diagnosis-and-laboratory-testing-of-coagulation-disorders
#3
Craig Kessler, Ellinor I Peerschke, Meera B Chitlur, Roshni Kulkarni, Natalia Holot, David L Cooper
BACKGROUND: Patients with coagulation disorders may present to a variety of physician specialties; however, accurate and efficient diagnosis can be challenging for physicians not specialized in hematology, due to identified gaps in knowledge around appropriate laboratory assays and interpretation of test results. Coags Uncomplicated was developed to fill this unmet educational need by increasing practical knowledge of coagulation disorders among nonexpert physicians and other health care professionals (HCPs) in a point-of-care (POC) setting...
April 18, 2017: JMIR Medical Education
https://www.readbyqxmd.com/read/28416007/disseminated-alveolar-echinococcosis-resembling-metastatic-malignancy-a-case-report
#4
Laura Caire Nail, Ezequiel Rodríguez Reimundes, Christelle Weibel Galluzzo, Dan Lebowitz, Yasmine Lucile Ibrahim, Johannes Alexander Lobrinus, François Chappuis
BACKGROUND: Alveolar echinococcosis is a potentially lethal zoonosis caused by larval forms of the tapeworm Echinococcus multilocularis. Humans are aberrant intermediate hosts who become infected by ingestion of egg-contaminated food or water or via physical contact with domestic or wild animals that carry the parasite in their small intestine. In humans, the disease usually affects the liver and can spread to other organs causing metastatic infiltration. In this report, we describe an advanced presentation of human alveolar echinococcosis mimicking metastatic malignancy...
April 18, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28407402/cirrhotic-cardiomyopathy-implications-for-liver-transplantation
#5
REVIEW
Hongqun Liu, Saumya Jayakumar, Mouhieddin Traboulsi, Samuel S Lee
The majority of the patients on a waiting list for liver transplantation have end-stage liver disease. Due to the marked peripheral vasodilatation of end stage cirrhosis that masks a latent myocardial dysfunction, cardiac abnormalities in the resting state are usually subclinical and escape the attention of physicians. However, when challenged, the systolic and diastolic contractile responses are attenuated. In addition to these contractile abnormalities, morphological changes such as enlargement or hypertrophy of cardiac chambers and electrophysiological repolarization changes including a prolonged QT interval can be observed...
April 13, 2017: Liver Transplantation
https://www.readbyqxmd.com/read/28400821/the-great-impostor-transaminitis-masking-the-coinfection-of-syphilis-and-human-immunodeficiency-virus
#6
Sunit Tolia, Hassan Kassem, Ana Capatina-Rata
Introduction. The incidence of syphilis continues to rise in the United States over the past 15 years. This disease process is classified into stages and may present with a coinfection of Human Immunodeficiency Virus (HIV). Case Report. We present a case of a 32-year-old African American male who presented with cutaneous manifestations of secondary syphilis and transaminitis. A workup revealed that the transaminitis was secondary to underlying syphilitic hepatitis in the presence of HIV coinfection. The patient had a reactive rapid plasma reagin (RPR) of 1 : 64 TU and reactive Treponema pallidum particle agglutination assay (TPPA)...
2017: Case Reports in Medicine
https://www.readbyqxmd.com/read/28392828/screening-of-wilson-s-disease-in-a-psychiatric-population-difficulties-and-pitfalls-a-preliminary-study
#7
Caroline Demily, François Parant, David Cheillan, Emmanuel Broussolle, Alice Pavec, Olivier Guillaud, Lioara Restier, Alain Lachaux, Muriel Bost
BACKGROUND: Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and diagnosis can be difficult to establish. The objectives of the present preliminary study were [1] to evaluate the relevance of serum copper (Cu) and ceruloplasmin (Cp) measures in hospitalized patients with psychiatric disorders; and [2] to identify possible mutations in the ATP7B gene in patients with abnormal biological copper profile...
2017: Annals of General Psychiatry
https://www.readbyqxmd.com/read/28392702/hepatic-encephalopathy-what-the-multidisciplinary-team-can-do
#8
REVIEW
Andy Liu, Eric R Yoo, Osama Siddique, Ryan B Perumpail, George Cholankeril, Aijaz Ahmed
Hepatic encephalopathy (HE) is a complex disease requiring a multidisciplinary approach among specialists, primary care team, family, and caregivers. HE is currently a diagnosis of exclusion, requiring an extensive workup to exclude other possible etiologies, including mental status changes, metabolic, infectious, traumatic, and iatrogenic causes. The categorization of HE encompasses a continuum, varying from the clinically silent minimal HE (MHE), which is only detectable using psychometric tests, to overt HE, which is further divided into four grades of severity...
2017: Journal of Multidisciplinary Healthcare
https://www.readbyqxmd.com/read/28379594/pyrrolizidine-alkaloids-enhance-alcohol-induced-hepatocytotoxicity-in-vitro-in-normal-human-hepatocytes
#9
M G Neuman, L B Cohen, V Steenkamp
OBJECTIVE: Herbal remedies containing pyrrilidozine alkaloids (PA)s can induce liver damage, including hepato-sinusoidal obstruction syndrome (HSOS) or veno-occlusive liver disease (VOD). Some individuals misusing alcohol consume also teas and/or herbal remedies containing PA. The interaction or additive toxicity of alcohol to PA toxicity needs to be addressed. The objectives of this study are 1) to review the scientific literature on the PA-induced liver toxicity; 2) identify possible mechanism(s) involved in PA-induced hepatocytotoxicity in the presence or absence of ethanol (EtOH) in vitro in normal human hepatocytes (NHH) in primary culture...
March 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28379588/a-focus-on-epidemiology-of-drug-induced-liver-injury-analysis-of-a-prospective-cohort
#10
A Licata, M G Minissale, V Calvaruso, A Craxì
OBJECTIVE: Drug-induced liver injury (DILI) is more often a challenge even for expert clinicians. Presently, there are limited data about the epidemiology, because the real incidence and prevalence of the disorder are underestimated, and further, sometimes the pharmacovigilance chain is unsuccessful as cases are largely underreported. We review available literature data and discuss our clinical experience regarding a prospective cohort of 185 patients with a diagnosis of DILI. MATERIALS AND METHODS: Significant papers were identified by literature search, and selected based on content including the epidemiology of DILI...
March 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28368988/diagnostic-value-of-technetium-99m-bone-scintigraphy-in-the-detection-of-cervical-spine-metastases-in-oncological-patients
#11
Sang-Min Park, Jae-Woo Park, Hui-Jong Lee, Ja-Young Choi, Hye Jin Yoo, Choon-Ki Lee, Bong-Soon Chang, Hyoungmin Kim
STUDY DESIGN: A retrospective cohort, radiographic study. OBJECTIVE: To assess the diagnostic accuracy of bone scintigraphy (BS) for the detection of cervical spine metastases in oncological patients. SUMMARY OF BACKGROUND DATA: BS remains the modality of choice for the screening of bone metastases, because of its feasibility in whole-body scanning and its widespread availability at low cost. Current practice guidelines for patients with malignant diseases recommend BS imaging as the primary screening method for detecting both axial and appendicular skeletal metastases...
March 31, 2017: Spine
https://www.readbyqxmd.com/read/28360015/health-related-quality-of-life-in-patients-with-locally-recurrent-or-metastatic-breast-cancer-treated-with-etirinotecan-pegol-versus-treatment-of-physician-s-choice-results-from-the-randomised-phase-iii-beacon-trial
#12
Chris Twelves, Javier Cortés, Joyce O'Shaughnessy, Ahmad Awada, Edith A Perez, Seock-Ah Im, Patricia Gómez-Pardo, Lee S Schwartzberg, Véronique Diéras, Denise A Yardley, David A Potter, Audrey Mailliez, Alvaro Moreno-Aspitia, Jin-Seok Ahn, Carol Zhao, Ute Hoch, Mary Tagliaferri, Alison L Hannah, Hope S Rugo
BACKGROUND: Health-related quality of life (HRQoL) enhances understanding of treatment effects that impact clinical decision-making. Although the primary end-point was not achieved, the BEACON (BrEAst Cancer Outcomes with NKTR-102) trial established etirinotecan pegol, a long-acting topoisomerase-1 (TOP1) inhibitor, as a promising therapeutic for patients with advanced/metastatic breast cancer (MBC) achieving clinically meaningful benefits in median overall survival (OS) for patients with stable brain metastases, with liver metastases or ≥ 2 sites of metastatic disease compared to treatment of physician's choice (TPC)...
March 27, 2017: European Journal of Cancer
https://www.readbyqxmd.com/read/28357028/limitations-and-opportunities-of-non-invasive-liver-stiffness-measurement-in-children
#13
REVIEW
Guido Engelmann, Jasmin Quader, Ulrike Teufel, Jens Peter Schenk
Changes in liver structure are an important issue in chronic hepatopathies. Until the end of the 20(th) century, these changes could only be determined by histological analyses of a liver specimen obtained via biopsy. The well-known limitations of this technique (i.e., pain, bleeding and the need for sedation) have precluded its routine use in follow-up of patients with liver diseases. However, the introduction of non-invasive technologies, such as ultrasound and magnetic resonance imaging, for measurement of liver stiffness as an indirect marker of fibroses has changed this situation...
March 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28331840/consensus-statement-on-the-management-of-patients-with-hcv-infection-in-romania
#14
REVIEW
(no author information available yet)
BACKGROUND: HCV direct-acting antivirals (DAAs) have made treatment easier for both patients and healthcare practitioners, but have also brought new challenges in terms of patient management and monitoring prior to, during, and after treatment. METHODS: To sum up and unify the clinical experience of Romanian DAA prescribing physicians, we have organized a Consensus Meeting in November 2016 in Bucharest, Romania. CONSENSUS STATEMENT: The Consensus Meeting has provided expert answers to ten significant questions regarding HCV infection, namely: How do we diagnose patients with HCV infection? How do we stage liver disease in patients with HCV infection? How do we monitor patients with HCV infection prior to treatment? Which patients with HCV infection do we treat? When do we start treatment for HCV infection? What regimens do we use for treating HCV infection? How do we monitor patients with HCV infection during treatment? What adverse events should we expect during treatment of HCV infection and how do we prevent/manage them? How do we monitor patients with HCV infection after treatment? How do we expect the landscape of HCV to change in the following years? ...
March 2017: Germs
https://www.readbyqxmd.com/read/28323126/elita-consensus-statements-on-use-of-daas-in-liver-transplant-candidates-and-recipients
#15
REVIEW
Luca S Belli, Christophe Duvoux, Thomas Berg, Mario Strazzabosco, Stefano Fagiuoli, Saye Khoo, Georges Philippe Pageaux, Isabelle Colle, Massimo Puoti, Audrey Coilly, Didier Samuel, Marina Berenguer
The advent of safe and highly effective direct acting antivirals (DAA) had huge implications for the HCV transplant field and changed our management of both, patients on the waiting list and those with HCV graft reinfection after Liver Transplantation (LT). When treating HCV infection before LT, HCV reinfection of the graft may be prevented in nearly all patients. In addition some candidates show a remarkable clinical improvement and are possibly delisted. Alternatively, HCV infection can be treated post LT either soon after the transplant, taking advantage of the removal of the infected native liver, or at the time of disease recurrence as done in the past...
March 18, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28318950/cholesteryl-ester-storage-disease-an-underdiagnosed-cause-of-cirrhosis-in-adults
#16
REVIEW
Mamta Pant, Kiyoko Oshima
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis...
February 9, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28317620/lupus-hepatitis-and-autoimmune-hepatitis-lupoid-hepatitis
#17
REVIEW
Avinash Adiga, Kenneth Nugent
Liver dysfunction occurs in approximately 50% of patients with systemic lupus erythematosus (SLE), and patients with SLE and elevated liver enzymes can present a complicated and difficult differential diagnosis. Lupus hepatitis and autoimmune hepatitis are 2 immunologic conditions involving the liver, which can have similar clinical, laboratory and systemic presentations, leading to difficulties in diagnosis. Physicians need to be aware of these 2 hepatic diseases as diagnosis and appropriate therapy need to occur early in the disease course to prevent progression to advanced liver disease...
April 2017: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/28299767/huge-renal-hydatid-cyst-an-unusual-presentation-a-case-report
#18
Jamal Jafari Nodoushan, Samad Zare, Seyed Mostafa Tabatabaei, Mojtaba Babaei Zarch, Fatemeh Imani, Fatemeh Ehsani
Isolated renal hydatid cyst is a rare entity accounting for only 2-4% of cases. A 60-year-old male presented to our clinic complaining of pain in right flank. He had a history of eating raw sheep liver. Imaging revealed an expansive cystic mass measuring approximately300×180 mm in the right side of abdomen. The patient was treated by open surgery in combination with perioperative chemotherapy with albendazol. In this case, we reported an unusual presentation of hydatid cyst disease. Physicians should be aware of its clinical presentations and complications...
March 16, 2017: Urology Journal
https://www.readbyqxmd.com/read/28276324/tfr2-related-haemochromatosis-in-the-netherlands-a-cause-of-arthralgia-in-young-adulthood
#19
T M A Peters, A F M Meulders, K Redert, M L H Cuijpers, A J M Rennings, M C H Janssen, N M A Blijlevens, D W Swinkels
BACKGROUND: Type 3 hereditary haemochromatosis (HH) is a rare iron overload disorder caused by variants in the transferrin 2 receptor (TFR2) gene. We aim to present characteristics of patients diagnosed with TFR2-HH in the Netherlands, in order to increase knowledge and awareness of this disease. METHODS: We collected clinical, biochemical and genetic data from four patients from three families diagnosed with HH type 3 in the Netherlands between 2009 and 2016. RESULTS: Three women and one man diagnosed with HH type 3 presented with arthralgia and elevated ferritin levels and transferrin saturation (TSAT) at ages 25-41 years...
March 2017: Netherlands Journal of Medicine
https://www.readbyqxmd.com/read/28272163/real-world-efficacy-of-daclatasvir-and-sofosbuvir-with-and-without-ribavirin-in-hiv-hcv-coinfected-patients-with-advanced-liver-disease-in-a-french-early-access-cohort
#20
Karine Lacombe, Hélène Fontaine, Catherine Dhiver, Sophie Metivier, Eric Rosenthal, Teresa Antonini, Marc Antoine Valantin, Patrick Miailhes, Stanislas Harent, Dominique Batisse, Georges-Philippe Pageaux, Julie Chas, Hugues Aumaitre, Stephanie Dominguez, Thierry Allegre, Alain Lafeuillade, Eric Billaud, Pierre De Truchis, Philippe Perre, Vincent Leroy, Victor De Ledinghen, Philippe Sogni, François Dabis, Yue Zhao, Anne Filipovics, Larysa Fedchuk, Raoudha Akremi, Yacia Bennai, Dominique Salmon Ceron
BACKGROUND: Efficacious, well-tolerated, direct antiviral agents have drastically changed the prognosis of hepatitis C virus (HCV) disease, but real-world data for oral treatments are limited in key populations such as HIV/HCV coinfection with advanced liver disease. Daclatasvir (DCV) efficacy and safety was assessed in the French "Autorisation Temporaire d'Utilisation" (ATU) program, providing DCV ahead of market authorization to patients with advanced HCV disease without other treatment options...
May 1, 2017: Journal of Acquired Immune Deficiency Syndromes: JAIDS
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