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hepatosplenomegaly

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https://www.readbyqxmd.com/read/28548121/ebv-negative-aggressive-nk-cell-leukemia-lymphoma-a-clinical-and-pathological-study-from-a-single-institution
#1
Juehua Gao, Amir Behdad, Peng Ji, Kristy L Wolniak, Olga Frankfurt, Yi-Hua Chen
Aggressive natural killer (NK)-cell leukemia/lymphoma is a systemic NK-cell neoplasm that preferentially affects Asians with a fulminant clinical course and is almost always associated with Epstein-Barr virus (EBV). The data on EBV-negative aggressive NK-cell leukemia/lymphoma are limited. Here we report a series of three patients (two Caucasians, one African-American) with EBV-negative aggressive NK-cell leukemia/lymphoma from a single institution, including a case diagnosed on post-mortem examination. Similar to EBV-positive aggressive NK-cell leukemia/lymphoma, our patients presented with constitutional symptoms and hepatosplenomegaly, and followed a highly aggressive clinical course...
May 26, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28538091/wolman-disease-a-mimic-of-infant-leukemia
#2
Kaduveettil G Gopakumar, Priyakumari Thankamony, Sheela Nampoothiri, Deeksha Bali, Jubie Raj, Jayasudha A Vasudevan, Ramachandran K Nair
BACKGROUND: Infant leukemia most commonly present with pallor and hepatosplenomegaly. The possibility of other differential diagnosis also has to be kept in mind during evaluation, as identifying the precise etiology for this clinical presentation is crucial for management. OBSERVATION: An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c...
May 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28523896/hemophagocytic-lymphohistiocytosis-in-a-newborn-presenting-as-blueberry-muffin-baby
#3
Krista N Larson, Sergio R Gaitan, Benjamin J Stahr, Dean S Morrell
Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome characterized by uncontrolled activation and proliferation of proinflammatory cytokines. Initial presentation commonly includes fever, hepatosplenomegaly, and pancytopenia; 6 to 65% of cases also have a concurrent cutaneous eruption. We present the case of a 6-day-old premature infant boy with congenital severe thrombocytopenia, anemia, and hepatosplenomegaly who presented with several cutaneous violaceous papules and nodules and was found to have HLH...
May 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28521786/role-of-routine-abdominal-ultrasonography-in-intensified-tuberculosis-case-finding-algorithms-at-hiv-clinics-in-high-tb-burden-settings
#4
Sonam Spalgais, Upasna Agarwal, Rohit Sarin, Devesh Chauhan, Anita Yadav, Anand Jaiswal
BACKGROUND: High proportion of TB in people living with HIV (PLHIV) is undiagnosed. Due to this active TB case finding is recommended for HIV clinics in high TB burden countries. Presently sputum examination and chest radiography are frontline tests recommended for HIV infected TB presumptives. Abdominal TB which occurs frequently in PLHIV may be missed even by existing programmatic intensified case finding protocols. This study evaluated the routine use of ultrasonography (USG) for active case finding of abdominal TB in HIV clinics...
May 18, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28516251/-severe-hypertriglyceridemia-diagnostics-and-new-treatment-principles
#5
U Kassner, M Dippel, E Steinhagen-Thiessen
Severe hypertriglyceridemia is defined at a plasma triglyceride (TG) concentration of >885 mg/dl and may result - in particular when clinical symptoms appear before the age of 40 - from "large variant" mutations in genes which influence the function of the lipoprotein lipase (LPL). For diagnosis, secondary factors have to be excluded and treated before further genetic tests are considered. Typical symptoms in almost all patients are recurrent, sometimes severe abdominal pain attacks, which can result in acute pancreatitis, the most important, sometimes life-threatening complication...
May 17, 2017: Der Internist
https://www.readbyqxmd.com/read/28508343/cytomegalovirus-infection-in-pregnancy
#6
REVIEW
Karl Oliver Kagan, Klaus Hamprecht
PURPOSE: Due to the severe risk of long-term sequelae, prenatal cytomegalovirus infection is of particular importance amongst intrauterine viral infections. This review summarizes the current knowledge about CMV infection in pregnancy. METHODS: A search of the Medline and Embase database was done for articles about CMV infection in pregnany. We performed a detailed review of the literature in view of diagnosis, epidemiology and management of CMV infection in pregnancy...
May 15, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28492120/a-rare-case-of-massive-hepatosplenomegaly-due-to-acute-lymphoblastic-leukemia-in-pregnancy
#7
Ricardo Gonçalves, Ruchika Meel
Acute lymphoblastic leukaemia (ALL) is rarely seen in pregnancy. Massive hepatosplenomegaly as a presentation of ALL has not been described previously in any patient population. A 30-year-old pregnant woman presented at 16 weeks' gestation with epistaxis, jaundice, diffuse abdominal pain and distension, massive hepatosplenomegaly and peripheral oedema. On the basis of blood tests, bone marrow biopsy and imaging, a diagnosis of ALL complicated by massive hepatosplenomegaly with splenic infarctions was made. The patient was referred to oncology for appropriate chemotherapy...
April 25, 2017: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/28489771/chronic-active-epstein-barr-virus-infection-associated-with-hemophagocytic-syndrome-and-extra-nodal-natural-killer-t-cell-lymphoma-in-an-18-year-old-girl-a-case-report
#8
Yawei Xing, Junwen Yang, Guanghui Lian, Shuijiao Chen, Linlin Chen, Fujun Li
RATIONALE: Chronic active Epstein-Barr virus infection (CAEBV) associated with hemophagocytic syndrome (HPS) and extra-nodal natural killer (NK)/T-cell lymphoma (ENKL) is a rare life-threatening disorder. This disease is easily misdiagnosed because of its varied presentations. PATIENT CONCERNS: An 18-year-old girl was admitted to our hospital with a history of edema in the lower limbs and intermittent fever lasting for more than 1 month. At admission, she had severe liver injury of unknown etiology...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28487786/a-rare-case-of-angioimmunoblastic-t-cell-lymphoma-with-epstein-barr-virus-negative-reed-sternberg-like-b-cells-chylous-ascites-and-chylothorax
#9
Mathijs Willemsen, Arne W J H Dielis, Iryna V Samarska, Ad Koster, Arienne M van Marion
Angioimmunoblastic T-cell lymphoma is a rare non-Hodgkin lymphoma with dismal prognosis. The median age of presentation ranges from 62 to 69 years with generalized lymphadenopathy, B symptoms, and hepatosplenomegaly as the most prevalent symptoms. The combination of B-cell and T-cell proliferations is common in AITL and the B-cell component may resemble Reed-Sternberg-like B-cells. Epstein-Barr virus is estimated to be present in 80-95% of AITL biopsies. Only a handful of EBV-negative AITL cases with EBV-negative RS-like B-cells have been reported over the last decade...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/28486845/routine-abdominal-ultrasonography-has-limited-value-in-the-care-for-patients-with-indolent-systemic-mastocytosis
#10
C L de Mol, M A W Hermans, R Gerth van Wijk, P M van Hagen, P L A van Daele
OBJECTIVES: Systemic mastocytosis (SM) is a myeloproliferative disease characterized by the accumulation of aberrant mast cells. Since advanced subtypes of SM can lead to organ dysfunction and shortened survival, timely recognition of progressive disease is important for the adequate treatment of SM patients. METHODS: Here, we report the results of our cohort study on the value of routine abdominal ultrasonography for the detection of progression of indolent systemic mastocytosis (ISM)...
May 10, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28482392/-three-cases-with-familial-mediterranean-fever-misdiagnosed-as-juvenile-idiopathic-arthritis
#11
J Li, Y Zhang, W Wang, L Q Zhong, H M Song
Objective: To explore the key points of diagnosis and treatment of familial Mediterranean fever(FMF). Method: The clinical data of 3 cases with FMF misdiagnosed as Juvenile idiopathic arthritis(JIA)seen from January 2014 to June 2016 in Peking Union Medical College Hospital were retrospectively collected. The clinical manifestations, gene mutation characteristics, treatment and prognosis were also evaluated. Result: Two cases were male and 1 was female. The mean age of onset was 17 months (3 months to 36 months), while the average age of diagnosis was 6 years and 8 months (24 months to 11 years)...
May 4, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28480256/a-case-report-of-pediatric-brucellosis-in-an-algerian-immigrant
#12
Eimear Kitt, Kristina R Brannock, Lauren A VonHolz, Paul J Planet, Erin Graf, Vinodh Pillai
An 8-year old girl presented to our facility with a 10-day history of fever, fatigue, abdominal pain and refusal to walk. She recently travelled from her native Algeria where she first developed symptoms. On evaluation, she was ill-appearing, febrile and tachycardic with hepatosplenomegaly and lymphadenopathy noted on examination. A strong musty odor was also noted from the child. Laboratory evaluation revealed pancytopenia, hyponatremia, and an elevated AST, ALT, and LDH. Malaria testing was negative, as was a PPD...
2017: Open Forum Infectious Diseases
https://www.readbyqxmd.com/read/28468610/a-case-report-of-novel-mutation-in-prf1-gene-which-causes-familial-autosomal-recessive-hemophagocytic-lymphohistiocytosis
#13
Mohammad Reza Bordbar, Farzaneh Modarresi, Mohammad Ali Farazi Fard, Hassan Dastsooz, Nader Shakib Azad, Mohammad Ali Faghihi
BACKGROUND: Hemophagocytic Lymphohistiocytosis (HLH) is a life-threatening immunodeficiency and multi-organ disease that affects people of all ages and ethnic groups. Common symptoms and signs of this disease are high fever, hepatosplenomegaly, and cytopenias. Familial form of HLH disease, which is an autosomal recessive hematological disorder is due to disease-causing mutations in several genes essential for NK and T-cell granule-mediated cytotoxic function. For an effective cytotoxic response from cytotoxic T lymphocyte or NK cell encountering an infected cell or tumor cell, different processes are required, including trafficking, docking, priming, membrane fusion, and entry of cytotoxic granules into the target cell leading to apoptosis...
May 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28463600/imaging-of-abdominal-and-pelvic-manifestations-of-graft-versus-host-disease-after-hematopoietic-stem-cell-transplant
#14
Meghan G Lubner, Christine O Menias, Michelle Agrons, Kinan Alhalabi, Venkata S Katabathina, Khaled M Elsayes, Perry J Pickhardt
OBJECTIVE: Graft-versus-host disease (GVHD) is a common complication of hematopoietic stem cell transplant (HSCT). GVHD predominantly affects the skin, gastrointestinal system and hepatobiliary systems. Imaging findings in the gastrointestinal tract include bowel wall thickening with mucosal enhancement, mesenteric edema, and vascular engorgement. In the hepatobiliary system, hepatosplenomegaly, periportal edema, bile duct dilatation, and gallbladder and biliary wall thickening are seen...
May 2, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28461826/effects-of-clarithromycin-treatment-in-scrub-typhus-in-children-comparison-with-chloramphenicol-and-azithromycin
#15
Min Lee, June Kim, Dae Sun Jo
PURPOSE: Chloramphenicol and tetracycline are not recommended for treating scrub typhus in pediatric patients because of potential side effects, such as aplastic anemia or tooth discoloration. While clarithromycin has recently been used in adults, few reports have been published on its effects in pediatric patients. We report the clinical profiles of pediatric scrub typhus and the effects of clarithromycin on scrub typhus in children. METHODS: We retrospectively analyzed medical records of 56 children with scrub typhus who were admitted between 2004 and 2013 to Chonbuk National University Hospital, Jeonju, Korea...
April 2017: Korean Journal of Pediatrics
https://www.readbyqxmd.com/read/28457694/a-rare-form-of-gaucher-disease-resulting-from-saposin-c-deficiency
#16
Lulu Kang, Xia Zhan, Jun Ye, Lianshu Han, Wenjuan Qiu, Xuefan Gu, Huiwen Zhang
Gaucher disease is mainly caused by the deficiency of lysosomal acid β-glucosidase. Gaucher disease caused by the deficiency of saposin C is rare. Here we report a patient mainly presenting with hepatosplenomegaly, thrombocytopenia and anemia. EEG examination revealed increased theta waves. Gaucher cells identified in his bone marrow and the highly elevated plasma chitotriosidase activity and glucosylsphingosine supported a diagnosis of Gaucher disease. However, the leukocyte β-glucosidase activity was in a normal range...
April 3, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28456452/oral-mass-revealing-ch%C3%A3-diak-higashi-syndrome
#17
T Tsuji, Y Uemura, Y Nakamura, S Nonoyama
This case report describes common oral inflammatory findings leading to the identification of Chédiak-Higashi syndrome (CHS). A 15-year-old girl presented with an enlarging and painful mass on the upper lip. Two weeks after the initial visit, the mass showed further protrusion in the absence of fever. Magnetic resonance imaging revealed a well-circumscribed cystic lesion with a thick capsule, and suggested an abscess derived from the mucous cyst in the upper lip. Inflammation indices were not elevated; however neutrophils were significantly lower than the normal level...
April 26, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28446487/haemophagocytic-lymphohistiocytosis-as-a-consequence-of-untreated-b-cell-chronic-lymphocytic-leukaemia
#18
Chris Bailey, Claire Dearden, Kirit Ardeshna
Haemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening syndrome characterised by defective cytotoxic function and hypercytokinaemia leading to macrophage expansion and haemophagocytosis. Patients often present with unexplained fevers, hepatosplenomegaly and pancytopenia, with elevation in serum ferritin and triglyceride. Acquired forms are triggered by infection, malignancy or rheumatological disorders. HLH in the setting of chronic lymphocytic leukaemia is rarely reported, however, and is usually associated with infection or as a consequence of chemotherapy...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28446480/unusual-cause-for-testicular-swelling-in-a-child
#19
Jayashree Rajasekaran, Jigisa Tripathy, Mukul Vij, Julius Xavier Scott
Myeloid sarcoma is a rare solid tumour composed of primitive precursors of granulocytic series of white blood cells involving extramedullary anatomic site. Here we report the case of a 10-month-old with testicular swelling, who was finally diagnosed with granulocytic sarcoma. This case demonstrates that Granulocytic sarcoma should be considered as a part of the differential diagnosis for testicular swelling in spite of having normal peripheral counts and absence of hepatosplenomegaly.
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28441828/-clinical-analysis-of-seven-cases-of-pulmonary-malignant-tumors-in-children
#20
D Xu, Z M Chen, W Z Gu, Y S Wang, M X Huang, L F Tang, Y Y Zhang, Y Jiang
Objective: To understand the clinical manifestation, imaging characteristics and outcomes of pulmonary malignant tumors in children. Method: We retrospectively collected information about seven cases of pulmonary malignant tumors in children in our hospital from Jan 2010 to Dec 2016. The information included clinical manifestation, imaging characteristics, pathologic results, and treatment. Result: (1) All the seven patients firstly visited pediatric internal medicine departments. Symptoms included cough (n=6), dyspnea (n=4), fever (n=2), anorexia (n=2), chest tightness (n=1), chest pain (n=1), lameness (n=1), abdominal distension and constipation (n=1)...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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