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Steve Taylor, Kimberly Eisenstein, Vanessa Gildenstern, Harper Price, Pooja Hingorani, Apurvi Patel, Nathan Page, Smita Bailey, David Carpentieri
Infantile choriocarcinoma (ICC) is a rare, highly malignant form of gestational trophoblastic neoplasia. Rapid diagnosis and initiation of treatment are paramount in reaching a successful outcome. Patients with these tumors typically present with a triad of anemia, hepatomegaly, and precocious puberty. Cutaneous manifestations of ICC are extraordinarily rare with few documented cases. Here, we describe a male neonate who presented to our Dermatology clinic with a rapidly growing, markedly vascular glabellar mass associated with abnormal laboratory values suggestive of Kasabach-Merritt phenomenon...
January 1, 2018: Pediatric and Developmental Pathology
Saishree Pradhan, Sriram Krishnamurthy, Barath Jagadisan, Nachiappa G Rajesh, Subashini Kaliaperumal, Suryaprakash Ramasamy, Nandeeswari Subramanian
A 12-year-old girl born to third-degree consanguineous parents presented with recurrent episodes of haematuria for 8 months in association with peri-orbital and lower limb oedema for 20 days. There was no jaundice, hepatomegaly or neurological abnormality at presentation. An older brother had died following jaundice at 10 years of age. Urinalysis showed multiple dysmorphic erythrocytes without proteinuria and there was leucopenia, thrombocytopenia and hypo-albuminaemia (23 g/L). C3 component of complementaemia was low and anti-nuclear antibodies and anti-double-stranded DNA antibodies were strongly positive by immunofluorescence...
March 12, 2018: Paediatrics and International Child Health
Kakharman Yesmembetov, Natalya Satlikova, Zhanat Spatayev, Kulpash Kaliaskarova
We present a 21-year-old patient, remarkable for huge hepatomegaly with the liver, occupying almost the entire abdominal cavity, and mild portal hypertension due to splenic vein compression. After ultrasonography-guided liver biopsy, performed to establish the diagnosis, the patient had bleeding from the liver. Fortunately, emergency laparotomy was started immediately, and the patient was saved. Macroscopically, the liver appeared to be of purple-red color, flabby to the touch, and able to be easily wrinkled with fingers...
March 2018: Experimental and Clinical Transplantation
Jagannath M Sherigar, Joline De Castro, Yong Mei Yin, Debra Guss, Smruti R Mohanty
Glycogenic hepatopathy (GH) is a rare complication of the poorly controlled diabetes mellitus characterized by the transient liver dysfunction with elevated liver enzymes and associated hepatomegaly caused by the reversible accumulation of excess glycogen in the hepatocytes. It is predominantly seen in patients with longstanding type 1 diabetes mellitus and rarely reported in association with type 2 diabetes mellitus. Although it was first observed in the pediatric population, since then, it has been reported in adolescents and adults with or without ketoacidosis...
February 27, 2018: World Journal of Hepatology
Claus Uhrenholt Christensen, Emilie Glavind, Karen Louise Thomsen, Yong Ook Kim, Sara Heebøll, Detlef Schuppan, Stephen Hamilton-Dutoit, Christian Würtz Heegaard, Henning Grønbæk
BACKGROUND AND AIMS: Hepatic cholesterol deposition drives inflammation and fibrosis in non-alcoholic steatohepatitis (NASH). The Niemann-Pick type C2 (NPC2) protein plays an important role in regulating intracellular cholesterol trafficking and homeostasis. We hypothesized that intravenous NPC2 supplementation reduces cholesterol accumulation, hepatic inflammation and fibrogenesis in a nutritional NASH rat model. METHODS: Rats were fed a high-fat, high-cholesterol (HFHC) diet for four weeks resulting in moderately severe NASH...
2018: PloS One
Filip Thieme, Jiri Fronek
INTRODUCTION: Polycystic liver disease is observed in 75-90% of patients with autosomal dominant polycystic kidney disease (ADPKD). ADPKD has a high prevalence of 1/1000. Hepatomegaly severely reduces quality of life and liver transplantation seems to be method of choice for many patients. Because of the rarity of this disease and the small number of symptomatic patients with massive hepatomegaly indicated for the transplantation, there is no standard approach for explantation of the liver...
January 8, 2018: International Journal of Surgery Case Reports
David F Pinal-García, Carlos M Nuño-Guzmán, Audrey Gómez-Abarca, Jorge L Corona, Ismael Espejo
Spontaneous rupture of hepatocellular carcinoma (HCC) is a potentially life-threatening complication. Diagnosis may be difficult, particularly in the absence of known liver cirrhosis or tumor. A 20-year-old male patient presented with progressive abdominal pain and shock. His past medical history was uneventful. Anemia, acute renal failure, and abnormal liver function test were demonstrated. Mild hepatomegaly, perihepatic and flank fluid, and multiple hypodense liver lesions suggestive of intrahepatic metastases or multifocal HCC were revealed by computed tomography...
January 2018: Case Reports in Gastroenterology
Rachel P Frawley, Matthew Smith, Mark F Cesta, Schantel Hayes-Bouknight, Chad Blystone, Grace E Kissling, Shawn Harris, Dori Germolec
Poly- and perfluoroalkyl substances (PFAS) are chemically and thermally stable, hydrophobic, lipophobic compounds used in stain repellants and water and oil surfactants, and associated with immunosuppression and peroxisome proliferator activity. Perfluoro-n-decanoic acid (PFDA, (CF3 (CF2 )8 COOH), a fluorinated straight chain fatty acid compound, is reported to induce thymic atrophy and reversible bone marrow hypocellularity in rodent models. The objective of this study was to assess potential immunotoxicity of PFDA, due to its structural similarity to other immunosuppressive PFASs...
December 2018: Journal of Immunotoxicology
S Ibrahimi, A A Mroué, E Francois, R Jagodzinski
A 34-year-old woman in the 22nd week of gestation presented with generalized pruritis and weight loss since the first trimester of pregnancy. Physical examination revealed cutaneous scratch lesions, jaundice, and hepatomegaly. Blood tests revealed cholestasis with elevated direct bilirubinemia. Auto-antibody and viral hepatitis tests were negative. Liver ultrasound was normal. The initial diagnosis was cholestasis of pregnancy. However despite treatment with ursodeoxycholic acid, the patient did not improve...
July 2017: Acta Gastro-enterologica Belgica
Ke Huang, Dun-Hua Zhou, Yang Li, Hong-Gui Xu, Li-Ping Que, Chun Chen, Hong-Man Xue, Hai-Xia Guo, Wen-Jun Weng, Shao-Liang Huang, Jian-Pei Fang
BACKGROUND: The objective of this study was to evaluate the feasibility of a modified conditioning regimen for the treatment of patients with β-thalassaemia major (TM), using unrelated donor peripheral blood stem cell transplantation (UD-PBSCT). METHODS: A modified conditioning regimen based on intravenous busulfan, cyclophosphamide, fludarabine, and antithymocyte globulin was performed in 50 consecutive childhood patients with β-TM and a median age of 4.6 years (range, 2-12 years)...
March 7, 2018: Pediatric Blood & Cancer
Jorge Galindo-Villegas, Alicia García-Alcazar, José Meseguer, Victoriano Mulero
A key goal of a successful vaccine formulation is the strong induction of persistent protective immune responses without producing side-effects. Adjuvants have been proved to be successful in several species at inducing increased immune responses against poorly immunogenic antigens. Fish are not the exception and promising results of adjuvanted vaccine formulations in many species are needed. In this study, over a period of 300 days, we characterized the apparent damage and immune response in gilthead seabream immunized by intraperitoneal injection with the model antigen keyhole limpet hemocyanin (KLH) alone or formulated with Montanide ISA water-in-oil (761 or 763), or Imject™ aluminum hydroxide (aluminium), as adjuvants...
March 3, 2018: Fish & Shellfish Immunology
Xiaolin Li, Zhangning Zhao, Xiaomin Liu, Gaoting Ma, Mei-Jia Zhu
INTRODUCTION: Propofol infusion syndrome (PRIS) is a rare but potentially fatal complication of propofol infusion. It is clinically characterized by metabolic acidosis, refractory bradycardia, rhabdomyolysis, renal failure, hyperlipidemia, and hepatomegaly. Brain lesion was only reported once in a pediatric patient. We present the 1st adult case with colon polyp and cancer who was diagnosed with PRIS. Her brain magnetic resonance imaging (MRI) and computed tomography (CT) scans reveal prominent bilateral brain lesions, matching with the proposed pathophysiologic mechanism of the syndrome...
January 2018: Medicine (Baltimore)
Michael J Licata, Murali Janakiram, Stephanie Tan, Yanan Fang, Urvi A Shah, Amit K Verma, Yanhua Wang
Adult T-cell leukemia-lymphoma (ATLL) is caused by human T-cell lymphotropic virus type 1 (HTLV-1) and little is known about ATLL endemic to the Caribbean basin and Latin America, designated as western ATLL (W-ATLL). Due to extensive systemic involvement and nonspecific clinical presentation, the initial diagnosis in this cohort can be very challenging. We have diagnosed 60 patients with W-ATLL over a 14-year period. ATLL involves the peripheral blood, bone marrow, and cerebrospinal fluid (CSF) in 98, 87, and 52% cases, respectively; while lymphadenopathy, pulmonary infiltrates, splenomegaly, and hepatomegaly was present in 90, 82, 48, and 45% patients, respectively...
May 2018: Leukemia & Lymphoma
Takenori Natsume, Kyoko Takano, Mitsuo Motobayashi, Tomoki Kosho
No abstract text is available yet for this article.
March 4, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
Becky Biqi Chen, Chitra Prasad, Joanna C Walsh, Dhandapani Ashok
No abstract text is available yet for this article.
June 2017: Paediatrics & Child Health
Rai-Hseng Hsu, Wei-De Lin, Mei-Chyn Chao, Hui-Pin Hsiao, Siew-Lee Wong, Pao-Chin Chiu, Shao-Yin Chu, Yu-Yuan Ke, Beng-Huat Lau, Yin-Hsiu Chien, Wuh-Liang Hwu, Fuu-Jen Tsai, Chung-Hsing Wang, Ni-Chung Lee
BACKGROUND: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. METHODS: Patients diagnosed with CGL from 8 medical centers were reviewed. The initial presentation, laboratory findings, and molecular testing were retrospectively analyzed. RESULTS: A total of 16 patients were analyzed, and the current median age was 3...
February 22, 2018: Journal of the Formosan Medical Association, Taiwan Yi Zhi
Shahrbanoo Nakhaei, Hamed Heidary, Aliasghar Rahimian, Mahdi Vafadar, Farzaneh Rohani, Gholam Reza Bahoosh, Davoud Amirkashani
Chanarin-Dorfman syndrome (CDS) is a rare autosomal recessive metabolic disorder caused by mutations in gene encoding the domain-5 of α/β-hydrolase enzyme (ABHD5). It is known as a natural lipid storage disorder arising from impaired lipid metabolism often characterized by hepatomegaly, myopathy, ataxia, non-bullous ichthyosiform erythroderma, hearing loss, and mental retardation. In the present study, we report two affected 28-month-old monozygotic twin boys as a new case of CDS. Genetic analysis was performed in patients, and the results showed a homozygote deletion in exon 4 of ABHD5...
February 24, 2018: Iranian Biomedical Journal
Magdalena Cerón-Rodríguez, Edgar Barajas-Colón, Lyuva Ramírez-Devars, Claudia Gutiérrez-Camacho, Juan L Salgado-Loza
BACKGROUND: Gaucher disease type 1 (GD1, OMIM# 230800), is a condition with high impact in patient's quality of life (QoL). We report the improvement in QoL of children with GD1 measured by Lansky play-performance scale (LS) after enzymatic replacement therapy (ERT) and to describe our experience in the treatment of children with GD1. METHODS: Five children with diagnosis of GD1 received imiglucerase 60 mg/kg every two weeks. LS, hepatomegaly, splenomegaly, hemoglobin, platelets, and growth rate were measured every 6 months after beginning ERT for 30 months...
January 2018: Molecular Genetics & Genomic Medicine
Robert Hegarty, Maesha Deheragoda, Emer Fitzpatrick, Anil Dhawan
The recognition of a pattern of steatotic liver injury where histology mimicked alcoholic liver disease but alcohol consumption was denied, led to the identification of non-alcoholic fatty liver disease (NAFLD). Non-alcoholic fatty liver disease has since become the most common chronic liver disease in adults owing to the global epidemic of obesity. However, in pediatrics, the term NAFLD seems incongruous: alcohol consumption is largely not a factor and inherited metabolic disorders (IMD) can mimic or co-exist with a diagnosis of NAFLD...
February 19, 2018: Journal of Hepatology
E Goncalvesova, M Kovacova
Liver dysfunction in heart failure is common and usually clinically significant, especially in patients with advanced or severe acute heart failure. Lesions are caused by an impaired hepatic circulation due to congestion and hypoperfusion. Congestive lesions are more common and typically manifested by painful hepatomegaly and increased direct bilirubin and alkaline phosphatase. The inferior vena cava and hepatic veins are usually dilated. Congestive lesions are characterized by dilatation of the central vein with fibrotic changes in the surrounding areas on histological examination...
2018: Bratislavské Lekárske Listy
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