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Masahiro Takita, Mina Iwanishi, Tomohiro Minami, Masashi Kono, Hirokazo Chishina, Tadaaki Arizumi, Norihisa Yada, Satoru Hagiwara, Yasunori Minami, Hiroshi Ida, Kazuomi Ueshima, Nishida Naoshi, Masatoshi Kudo
OBJECTIVE: The objective of treatment for polycystic liver disease is to reduce the liver volume and reduce or resolve compression symptoms such as abdominal fullness and abdominal pain due to hepatomegaly. Liver cysts are treated internally by puncture and aspiration of the cyst contents or hepatic artery embolization and surgically by cyst fenestration or hepatectomy, but no clear consensus has been reached concerning their selection. We introduced monoethanolamine oleate (EO) sclerotherapy therapy for liver cysts in 1999 and reported its effectiveness...
2016: Digestive Diseases
Ruixue Miao, Zhiling Wang, Qin Guo, Yang Wen, Qiong Liao, Yu Zhu, Min Shu, Chaomin Wan
BACKGROUND: Visceral Leishmaniasis (VL) is a life-threatening parasitic infection transmitted by phlebotomine sandflies. We undertook this study to analyze the clinical features of pediatric VL in a population of Chinese children. METHODS: A retrospective study was performed with pediatric patients (≤14years) diagnosed with VL based on bone-marrow biopsy, serology and diagnosis based on clinical manifestation and the improvement after the experimental drug when negative bone marrow and serology results were shown...
September 30, 2016: Pediatric Infectious Disease Journal
T Mahévas, D Gobert, M Gatfossé, A Mekinian, O Fain
INTRODUCTION: Hepatic glycogenosis is a rare syndrome, which includes poorly controlled diabetes mellitus, hepatomegaly, delayed puberty, and growth delay. Insulin edema is sometimes associated. CASE REPORT: An 18-year-old woman presented with diffuse edema, hepatomegaly, amenorrhea, uncontrolled diabetes, and elevated transaminases and cholestasis. Hepatic ultrasonography and abdominal computed tomographic scan confirmed the hepatomegaly. The liver biopsy showed a massive glycogenosis and the diagnosis of hepatic glycogenosis was confirmed...
October 13, 2016: La Revue de Médecine Interne
Zeinab A Elkabbany, Nancy S Elbarbary, Eman A Ismail, Nesrine A Mohamed, Dina Ragab, Shereen Abdel Alem, Yasmine M Ezzat, Sarah S Maurice, Noha U Hashem
AIM: To identify the prevalence and effect of hepatopathies of different etiologies among pediatric patients with type 1 diabetes mellitus (T1DM) using transient elastography (TE) and its relation to glycemic control. METHODS: One hundred T1DM patients were studied focusing on liver functions, fasting lipid profile, hemoglobin A1c (HbA1c), hepatitis C virus (HCV), serum immunoglobulins, autoimmune antibodies; anti-nuclear antibody (ANA), anti-smooth muscle antibody (ASMA), and anti-liver kidney microsomal antibody (anti-LKM)...
September 26, 2016: Journal of Diabetes and its Complications
Leila Mnif, Rim Sellami, Jawaher Masmoudi
BACKGROUND: Valproic acid is a mood-stabilizing anticonvulsant. Hepatic injuries are among the occasionally observed adverse effects of this medication. CASE PRESENTATION: We present the case of a 47-year-old man who had bipolar disorder for ten years and treated with valproic acid. He demonstrated elevated serum aminotransferases and ultrasonography revealed that hepatomegaly was suggestive of hepatic steatosis. CONCLUSION: This case report stresses the importance of a complete drug history and the need for clinicians to be aware of the delayed onset of hepatic injuries...
August 15, 2016: Psychopharmacology Bulletin
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Sanjay K Mahajan, Rajiv Raina, Balraj Singh, Dig Vijay Singh, Anil Kanga, Ashok Sharma, Satinder S Kaushal
OBJECTIVE: To study the pattern of the clinical presentation, laboratory findings and mortality risk among patients infected by scrub typhus in Western Himalayan region of India. METHODS: We studied all serologically confirmed cases of scrub typhus admitted to our hospital from July 2010 through December 2011. Presence of IgM antibodies to scrub typhus antigens by ELISA was considered as serological confirmation of the diagnosis. We observed the symptoms, signs, laboratory findings, risk factors for death from the time of admission till discharge/death...
March 2016: Journal of the Association of Physicians of India
Shafi Shaik, R Krishnan
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Nicholay A Shcherbina, Liudmyla A Vygovskaya
INTRODUCTION: the relevance of intrauterine infections is determined by significant peri- and postnatal loss as well as health impairment, which often results in disability and reduced quality of life. Ultrasonography is employed in order to provide a reliable assessment of the functional state of the fetoplacental system secondary to intrauterine fetal infection in the course of pregnancy. Ultrasound imaging is essential in diagnosis of various preclinical complications of pregnancy and detection of abnormalities in the developing fetus...
2016: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
R Yazdani, R Seify, M Ganjalikhani-Hakemi, H Abolhassani, N Eskandari, F Golsaz-Shirazi, B Ansaripour, E Salehi, G Azizi, N Rezaei, A Aghamohammadi
BACKGROUND: Common variable immunodeficiency (CVID) is a heterogeneous disease, characterised by hypogammaglobulinaemia leading to recurrent infections and various complications. The aim of this study was to classify CVID patients based on four known classifications (Paris, Freiburg, EUROclass, and B-cell patterns) by measurement of B-cell subsets and to assess the relation of each classification with clinical manifestations. METHODS: We measured all B-cell subsets as both absolute count and percentage in 30 CVID patients and 30 healthy individuals using four-colour flow cytometry...
October 4, 2016: Allergologia et Immunopathologia
Sunuraj Sivarajan, Siddharudha Shivalli, Debomallya Bhuyan, Michael Mawlong, Rittwick Barman
BACKGROUND: India is an integral component of "tsutsugamushi triangle" which depicts a part of the globe endemic to scrub typhus. Owing to frequent outbreaks witnessed in different parts of the country in the recent past, scrub typhus is described as a re-emerging infectious disease in India. The present study aimed to study the clinical and paraclinical profile, complications and predictors of outcome among 90 cases of scrub typhus diagnosed in a hospital of north-eastern India from Sept 2011 to Aug 2012...
October 5, 2016: Infectious Diseases of Poverty
Abdullah Alakeel, Marie Ferneiny, Nicole Auffret, Christine Bodemer
Acne fulminans (AF) is a rare manifestation and the most severe form of the entire clinical spectrum of acne. The disease is destructive and is characterized by the sudden onset of painful and ulcerative pustules and systemic symptoms including high fever, hepatomegaly, polyarthralgia, leukocytosis, plaquetose, and increased inflammatory markers and transaminases. Osteolytic lesions in multiple skeletal sites could also be associated. The use of isotretinoin is considered a related trigger, as well as the use and cessation of testosterone, although a bacterial infection, a drug-induced disease, or an intake of anabolic androgenic steroids has been suggested...
October 4, 2016: Pediatric Dermatology
Kirsten S Deemer, George F Alvarez
Mauriac syndrome is a rare disorder that can present with the single feature of glycogenic hepatopathy in children and adults with poorly controlled diabetes mellitus. An often underrecognized finding of glycogenic hepatopathy is lactic acidosis and hyperlactatemia. Primary treatment of glycogenic hepatopathy is improved long-term blood glucose control. Resolution of symptoms and hepatomegaly will occur with improvement in hemoglobin A1C. We present here a case of a young adult female presenting to the intensive care unit with Mauriac syndrome...
2016: Case Reports in Critical Care
Ayse Sayili, Aysegul Taylan Ozkan, Henk D F H Schallig
Visceral leishmaniasis (VL) is a vector-borne disease widespread in the Mediterranean basin, including Cyprus. During the last decades no cases were notified from northern Cyprus, but herein three cases of VL (female: 2, male: 1, median age: 24.6 months) diagnosed during their hospital admission between January 2011 and December 2012 are reported. Diagnosis was based on clinical findings; 1 ≥ 1/64 titer positivity of immunofluorescence antibodies, Leishmania amastigotes in Giemsa-stained slides of bone marrow, as well as molecular identification confirmed that in all three the infecting pathogen was Leishmania infantum Fever, splenomegaly, and hepatomegaly were the typical clinical findings...
October 3, 2016: American Journal of Tropical Medicine and Hygiene
Enas A Hamed, Mostafa M El-Saied, Khaled Saad, Hazem Abu-Zeid Yousef, Amany O Mohamed, Dina Sabry
OBJECTIVE: This study aimed to evaluate fibrosis and elastin destruction in childhood interstitial lung disease (chILD) patients. METHODS: Sixty patients and twenty healthy children were recruited. On admission, evaluation of chILD severity was made using Fan chILD score. Participants provided urine and blood samples. Plasma levels of transforming growth factor (TGF)-β1, connective tissue growth factor (CCN2), soluble factor related apoptosis (sFas) and long non-coding RNAs and urinary levels of desmosine/urinary creatinine (UDes/UCr) were measured...
September 21, 2016: Pathophysiology: the Official Journal of the International Society for Pathophysiology
Kai Li, Zuopeng Wang, Yinhua Liu, Wei Yao, Yin Gong, Xianmin Xiao
BACKGROUND: It has been reported that multifocal and diffuse hepatic hemangiomas are true infantile hemangiomas for which a continuum probably exists. We determined the similarities and fine differences between the two types of hemangioma and identified the multifocal subgroup of type, which needs timely treatment. MATERIAL AND METHODS: Twenty-four patients (4 males and 20 females; age 114±142days) with multifocal or diffuse hepatic hemangiomas who were treated between January 2000 and June 2015 were studied...
September 16, 2016: Journal of Pediatric Surgery
Claire Thorne, Anna Turkova, Giuseppe Indolfi, Elisabetta Venturini, Carlo Giaquinto
OBJECTIVE: To characterise children, adolescents and young adults infected with HIV/HCV vertically or before age 18 years and living in Europe regarding mode of acquisition, HCV genotype, clinical status and treatment. DESIGN: Retrospective, cross-sectional study using pooled data from 11 European paediatric HIV cohorts METHODS:: Patients aged > 18 months and < 25 years, with HIV/HCV acquired vertically or in childhood, were included. Anonymised individual-patient data were collected using a standard protocol and modified HIV Cohorts Data Exchange Protocol...
September 24, 2016: AIDS
Nadia Waheed, Huma Arshad Cheema, Hassan Suleman, Iqra Mushtaq, Zafar Fayyaz
Chanarin-Dorfman syndrome is a rare, genetically determined autosomal recessive disorder, characterised by the presence of lipid droplets in the cytoplasm of multiple tissues of the body, particularly in the blood leukocytes and congenital non-bullous icthyosiform erythroderma. In this paper, we report one-year child who presented with skin lesions since birth and hepatomegaly. Liver biopsy showed steatohepatitis; and peripheral blood smear confirmed Jordan`s anomaly, which is a permanent feature of Chanarin-Dorfman syndrome...
September 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Heron Werner, Pedro Daltro, Taisa Davaus, Edward Araujo Júnior
We report a case of a fetus with an ultrasonography diagnosis of a neuroblastoma during a routine third trimester fetal scan, which presented as a hyperechogenic nodule located above the right kidney. No other abnormalities were found in the ultrasonography scan; however, the follow-up ultrasonography during the 36th week of gestation revealed that the lesion had doubled in size. At the same time, magnetic resonance imaging demonstrated a round mass in the topography of the right adrenal gland with a low signal on T1-weighted images and slightly high signal on T2-weighted images, causing a slight inferior displacement of the kidney...
September 2016: Obstetrics & Gynecology Science
C Galeotti, S Georgin-Lavialle, G Sarrabay, I Touitou, I Koné-Paut
Mevalonate kinase deficiency is a rare, autosomal recessive, auto-inflammatory disease. This results from mutations in the gene MVK coding for the enzyme mevalonate kinase. This enzyme is involved in cholesterol and isoprenoids synthesis. Depending partially of the residual activity of the mevalonate kinase, the clinical spectrum realizes a continuum which extends from the mild phenotype of the hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) to a lethal form of mevalonic aciduria. The HIDS is characterized by recurrent episodes of fever with an intense inflammatory syndrome, accompanied with lymphadenopathy, abdominal pain, diarrhea, arthralgia, hepatomegaly, splenomegaly and skin rash...
September 19, 2016: La Revue de Médecine Interne
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