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https://www.readbyqxmd.com/read/27914961/expanding-the-clinical-and-genetic-spectrum-of-g6pd-deficiency-the-occurrence-of-bcgitis-and-novel-missense-mutation
#1
Taj Ali Khan, Humaira Mazhar, Mehboob Nawaz, Kalsoom Kalsoom, Muhammad Ishfaq, Huma Asif, Hazir Rahman, Muhammad Qasim, Farkhanda Naz, Mubashir Hussain, Baharullah Khattak, Waheed Ullah, Otavio Cabral-Marques, Jawad Butt, Asif Iqbal
Glucose-6-phosphate dehydrogenase (G6PD) is a key enzyme in the pentose phosphate pathway that ensures sufficient production of coenzyme nicotinamide adenine dinucleotide phosphate (NADPH) by catalyzing the reduction of NADP+ to NADPH. Noteworthy, the latter mediates the production of reactive oxygen species (ROS) by phagocytic cells such as neutrophils and monocytes. Therefore, patients with severe forms of G6PD deficiency may present impaired NADPH oxidase activity and become susceptible to recurrent infections...
November 30, 2016: Microbial Pathogenesis
https://www.readbyqxmd.com/read/27914884/clinical-presentation-diagnosis-and-survival-in-cholangiocarcinoma-a-prospective-study
#2
Larisa Vasilieva, Stefanos I Papadhimitriou, Alexandra Alexopoulou, Ioannis Kostopoulos, Konstantinos Papiris, Dimitrios Pavlidis, Dimitrios Xinopoulos, Andreas Romanos, Spyridon P Dourakis
BACKGROUND AND STUDY AIMS: The diagnosis of cholangiocarcinoma (CCA) is difficult. The present study aimed to assess the clinical features, diagnosis, and survival in CCA. PATIENTS AND METHODS: This is a prospective study on 46 patients with CCA who underwent endoscopic retrograde cholangiopancreatography (ERCP) or surgical resection and 20 controls with a clinical and ERCP suspicion for CCA in whom surgical biopsy and/or 4-year follow-up showed a benign biliary stricture...
November 30, 2016: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/27912795/follicular-thyroid-carcinoma-presenting-as-solitary-liver-metastasis-a-case-report
#3
Azhar J Battoo, Zubaida Rasool, Zahoor A Sheikh, Altaf G Haji
BACKGROUND: Distant metastasis from differentiated thyroid carcinoma at presentation is rare and isolated liver metastasis on presentation is almost unknown. We report a case of primary follicular carcinoma of the thyroid with isolated liver metastasis at presentation. CASE PRESENTATION: A 65-year-old man of Kashmiri origin presented to our tertiary referral center with obstructive jaundice; he was evaluated with magnetic resonance cholangiopancreatography and positron emission tomography-computed tomography...
December 3, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27909644/primary-squamous-cell-carcinoma-of-the-pancreas-as-a-cause-of-biliary-obstruction
#4
Kyle Rowe, Jeet Mehta, Fredy Nehme, William Salyers
Primary squamous cell carcinoma of the pancreas (SCCP) is a rare neoplasm, given a lack of naturally occurring squamous cells within the pancreas, accounting for only 0.2% of all pancreatic cancers. The etiology is unknown. Symptomatology is non-specific and similar to other pancreatic neoplasms. No non-invasive testing can adequately rule in SCCP, and workup should proceed similarly to any pancreatic mass. Tissue sampling is required for diagnosis and guidance of further management, most commonly by endoscopic ultrasound with fine needle aspirate...
October 31, 2016: Curēus
https://www.readbyqxmd.com/read/27909110/case-3-acute-jaundice-in-a-16-year-old-boy
#5
Lauren Pommert, Hayley Friedman, David Wathen, Shermini Saini
No abstract text is available yet for this article.
December 2016: Pediatrics in Review
https://www.readbyqxmd.com/read/27906107/previously-undiagnosed-hereditary-spherocytosis-in-a-patient-with-jaundice-and-pyelonephritis-a-case-report
#6
Yuki Tateno, Ryoji Suzuki, Yukihiro Kitamura
BACKGROUND: Hereditary spherocytosis is autosomal dominant inherited extravascular hemolytic disorder and is the commonest cause of inherited hemolysis in northern Europe and the United States. The classical clinical features of hereditary spherocytosis are anemia, jaundice, and splenomegaly. However, all of these classical features are not always revealed in the case of mild hemolysis or when hemolysis is well compensated. Patients with hereditary spherocytosis may remain undiagnosed for years if their hemolysis is mild...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27906105/pancreatic-metastases-from-ocular-malignant-melanoma-the-use-of-endoscopic-ultrasound-guided-fine-needle-aspiration-to-establish-a-definitive-cytologic-diagnosis-a-case-report
#7
Diogo Turiani Hourneaux De Moura, Danielle Azevedo Chacon, Ryan Tanigawa, Martin Coronel, Spencer Cheng, Éverson L A Artifon, José Jukemura, Eduardo Guimarães Hourneaux De Moura
BACKGROUND: When encountering solid pancreatic lesions, nonpancreatic primary metastases are rare and differentiating a metastasis from a primary neoplastic lesion is challenging. The clinical presentation and radiologic features can be similar and the possibility of a pancreatic metastasis should be considered when the patient refers to a history of a different primary cancer. Endoscopic ultrasound offers a key anatomical advantage in accessing the pancreas and endoscopic ultrasound-guided fine-needle aspiration has become the gold standard method for diagnosing pancreatic lesions...
December 1, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27906097/a-10-year-old-child-presenting-with-syndromic-paucity-of-bile-ducts-alagille-syndrome-a-case-report
#8
Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh
BACKGROUND: Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have so far been reported, with only five cases reported in the Indian subcontinent. Rarely, Alagille syndrome also presents with skin manifestations and early-onset chronic liver disease, which was found in our case...
November 30, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27905370/-surgical-management-of-chronic-pancreatitis-complicated-by-biliary-and-duodenal-obstruction
#9
G M Barvanyan
AIM: To compare different surgical approaches to chronic pancreatitis complicated by biliary and duodenal obstruction. MATERIAL AND METHODS: In the study (n=42) and control (n=36) groups 18 and 4 resections were performed respectively (p=0.004). Early postoperative complications occurred in 15 cases of the study group and 4 cases of the control group (p=0.024). 7 and 1 re-operations were made in both groups respectively (p=0.99). There was no postoperative mortality in both groups...
2016: Khirurgiia
https://www.readbyqxmd.com/read/27904860/interventional-therapy-for-pancreatic-cancer
#10
REVIEW
Jianwei Zhu, Zhendong Jin
BACKGROUND: Palliative therapy and primarily chemoradiotherapy are the mainstream treatments in patients with locally advanced or metastatic pancreatic cancer (PC). Conventional endoscopy and endoscopic ultrasound (EUS)-guided interventional therapy has emerged as an important procedure for PC management. In this review, the progress in conventional endoscopy and EUS for PC management is discussed. SUMMARY: For local palliative therapy against PC, EUS-guided fine needle injection (FNI) could deliver different kinds of agents, such as radioactive seeds and fiducials...
October 2016: Gastrointestinal Tumors
https://www.readbyqxmd.com/read/27904249/benign-biliary-strictures
#11
REVIEW
Ashley Altman, Steven M Zangan
Differentiating benign and malignant biliary strictures is a challenging and important clinical scenario. The typical presentation is indolent and involves elevation of liver enzymes, constitutional symptoms, and obstructive jaundice with or without superimposed or recurrent cholangitis. While overall the most common causes of biliary strictures are malignant, including cholangiocarcinoma and pancreatic adenocarcinoma, benign strictures encompass a wide spectrum of etiologies including iatrogenic, autoimmune, infectious, inflammatory, and congenital...
December 2016: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/27904243/a-systematic-approach-to-patients-with-jaundice
#12
REVIEW
Bilal Gondal, Andrew Aronsohn
Jaundice is a clinical manifestation of disorders of underlying bilirubin metabolism, hepatocellular dysfunction, or biliary obstruction. As clinical presentations of yellowing of eyes or skin can be somewhat nonspecific for the underlying etiology of disease, a stepwise approach to evaluation is necessary for accurate diagnosis and effective treatment plan. In this review, we discuss underlying mechanisms of cholestasis and jaundice as well as laboratory and imaging modalities needed to evaluate a patient presenting with hyperbilirubinemia...
December 2016: Seminars in Interventional Radiology
https://www.readbyqxmd.com/read/27902955/extrahepatic-biliary-obstrution-secondary-to-neuroendocrine-tumor-of-the-common-hepatic-duct
#13
Faraz A Khan, Anastasia Stevens-Chase, Rahman Chaudhry, Asra Hashmi, David Edelman, Donald Weaver
INTRODUCTION: Primary neuroendocrine tumors (NET) of the extrahepatic biliary tree are a rare entity with less than 100 reported cases in the literature. PRESENTATION OF CASE: Here, we report a case of NET of the extrahepatic bile duct in a 64-year-old male patient presenting with painless jaundice, direct hyperbilirubinemia, and mildly elevated transaminases. Diagnostic workup with an ultrasound revealed dilation of the intrahepatic biliary ducts, without cholelithiasis or choledocholithiasis...
November 23, 2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27902614/associating-pancreaticostomy-and-biliary-irrigation-for-staged-pancreaticoduodenectomy-approach-to-pancreatic-intraductal-papillary-mucinous-neoplasm-with-recurrent-cholangitis-and-severe-jaundice-a-case-report
#14
Chao Dai, Siyuan Lou, Fan Zhou
PATIENT CONCERNS: A 63-year-old man was hospitalized with history of abdominal pain since more than 1 year, and that of fever with chills since 2 weeks. DIAGNOSES: Based on the laboratory investigations and radiologic findings, a preliminary diagnosis of pancreatic intraductal papillary mucinous neoplasm (IPMN) with recurrent cholangitis and severe jaundice was made. INTERVENTIONS: An initial attempt at endoscopic and image-guided drainage proved unsuccessful...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27900365/genome-sequencing-in-a-case-of-niemann-pick-type-c
#15
Max Dougherty, John Lazar, Jason C Klein, Karina Diaz, Theodore Gobillot, Eli Grunblatt, Nicholas Hasle, Daniel Lawrence, Megan Maurano, Maria Nelson, Gregory Olson, Sanjay Srivatsan, Jay Shendure, C Dirk Keene, Thomas Bird, Marshall S Horwitz, Desiree A Marshall
Adult-onset Niemann-Pick disease type C (NPC) is an infrequent presentation of a rare neurovisceral lysosomal lipid storage disorder caused by autosomal recessive mutations in NPC1 (∼95%) or NPC2 (∼5%). Our patient was diagnosed at age 33 when he presented with a 10-yr history of difficulties in judgment, concentration, speech, and coordination. A history of transient neonatal jaundice and splenomegaly with bone marrow biopsy suggesting a lipid storage disorder pointed to NPC; biochemical ("variant" level cholesterol esterification) and ultrastructural studies in adulthood confirmed the diagnosis...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27898169/cross-sectional-analysis-of-progressive-familial-intrahepatic-cholestasis-in-puerto-rican-children
#16
Dellys M Soler, Antonio I Del Valle, David Fernandez-Lube, Benjamin L Shneider
OBJECTIVE: Specific inherited disorders may be more common in island communities. Prior case reports suggest that cholestatic liver diseases may constitute a group of these inherited disorders in Puerto Rico. A cross-sectional survey of liver diseases in children was conducted to assess this hypothesis. METHODS: A cross-sectional analysis was performed in patients with chronic cholestasis at "Hospital Pediátrico Universitario" in San Juan, Puerto Rico. Ten potential participants with high gamma-glutamyl transpeptidase (GGTP) cholestasis were identified...
December 2016: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/27895774/a-case-of-distal-extrahepatic-cholangiocarcinoma-with-two-positive-resection-margins
#17
Wayne A Warner, Wesley Ramcharan, Dave Harnanan, Srikanth Umakanthan, Ravi Maharaj
Cholangiocarcinoma is an uncommon primary malignancy of the biliary tract that is challenging to diagnose and treat effectively due to its relatively silent and late clinical presentation. The present study reports a case of a 60-year-old male with distal extrahepatic cholangiocarcinoma with a 3-week history of painless obstructive jaundice symptoms and subjective weight loss. Imaging revealed an obstructing lesion in the common bile duct, just distal to the entrance of the cystic duct. Pathology revealed moderately differentiated cholangiocarcinoma with two positive proximal resection margins...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27894795/histological-parameters-and-alcohol-abstinence-determine-long-term-prognosis-in-patients-with-alcoholic-liver-disease
#18
Carolin Lackner, Walter Spindelboeck, Johannes Haybaeck, Philipp Douschan, Florian Rainer, Luigi Terracciano, Josef Haas, Andrea Berghold, Ramon Bataller, Rudolf E Stauber
BACKGROUND & AIMS: Few data exist on predictors of long-term prognosis in patients with alcoholic liver disease (ALD). Most studies have only assessed short-term prognosis in patients with advanced ALD. We aimed to assess the prognostic impact of clinical, biochemical and histological parameters on long-term prognosis in patients with early/compensated and decompensated ALD. METHODS: Consecutive patients (n=192) with biopsy-proven liver disease due to alcohol abuse were analyzed retrospectively...
November 25, 2016: Journal of Hepatology
https://www.readbyqxmd.com/read/27893685/acute-liver-failure-caused-by-hemophagocytic-lymphohistiocytosis-in-adults-a-case-report-and-review-of-the-literature
#19
Shide Lin, Ying Li, Jun Long, Qichuan Liu, Fangwan Yang, Yihuai He
BACKGROUND: Hemophagocytic lymphohistiocytosis (HLH) is a rare condition that can be caused by a primary or acquired disorder of uncontrolled immune response. Liver injury is a common complication of HLH; however, HLH presenting as acute liver failure (ALF) has rarely been reported in adults. CASE SUMMARY: A 34-year-old man was admitted to our hospital with nausea and fatigue persisting for 2 weeks and jaundice for 1 week. He had hyperthermia at the onset of disease...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27892440/urinary-tract-infection-in-asymptomatic-newborns-with-prolonged-unconjugated-hyperbilirubunemia-a-hospital-based-observational-study-from-western-region-of-nepal
#20
T Malla, B Sathian, K Karmacharya Malla, S Adhikari
Background Urine culture is usually not a part of work-up for neonatal unconjugated hyperbilirubinemia; hence its prevalence remains unknown. Objective This study was done to determine the incidence of urinary tract infection (UTI) in asymptomatic newborns with prolonged unconjugated hyperbilirubinemia and to evaluate which other laboratory parameters are associated with UTIs. Method A prospective observational study where jaundiced newborns otherwise clinically well, were evaluated for UTI. The study was carried out in neonatal intensive care unit of Manipal Teaching Hospital, Pokhara from June 2012 -April 2013...
January 2016: Kathmandu University Medical Journal (KUMJ)
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