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https://www.readbyqxmd.com/read/28446487/haemophagocytic-lymphohistiocytosis-as-a-consequence-of-untreated-b-cell-chronic-lymphocytic-leukaemia
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28440359/ultrasonographic-findings-in-hyperimmunoglobulin-d-syndrome-a-case-report
#4
Laura Otilia Damian, Otilia Fufezan, Mihaela Farcău, Simona Tătar, Călin Lazăr, Dorin-Ioan Farcău
Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall...
April 22, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28435998/a-6-year-old-boy-with-wilson-disease-a-diagnostic-dilemma
#5
Ramaswamy Ganesh, N Suresh, T Vasanthi, Malathi Sathiyasekaran, R Thulasiraman
A 6-year-old boy presented with 2 months history of progressive abdominal distension and jaundice. He was deeply icteric with ascites, hepatosplenomegaly, hyperbilirubinemia, raised transaminases, and coagulopathy. Viral markers and slit lamp examination for Kayser-Fleischer ring were negative. Serum ceruloplasmin and 24-h urinary copper post-D-pencillamine challenge were normal. Anti-smooth muscle antibody was positive 1:20, and liver biopsy showed micronodular cirrhosis with abundant Mallory hyaline and stainable copper deposits...
April 24, 2017: Indian Journal of Gastroenterology: Official Journal of the Indian Society of Gastroenterology
https://www.readbyqxmd.com/read/28435994/thalassemia-minor-and-major-%C3%A2-current-management
#6
REVIEW
Ved Prakash Choudhry
Thalassemia is a common genetic disorder. It has been estimated that in India nearly 5 crore people are thalassemia carriers. They are asymptomatic and are detected on blood tests. These people are at same risk of developing iron deficiency anemia as general population and need iron therapy in the presence of iron deficiency anemia. Nearly 12,000 children with thalassemia major (Homozygous state) are born every year. These children often present with significant anemia along with hepatosplenomegaly during infancy and require early diagnosis and institution of therapy with repeated blood transfusions and chelation therapy...
April 24, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28419562/international-opinions-and-national-surveillance-suggest-insufficient-consensus-regarding-the-recognition-and-management-practices-of-infants-with-congenital-cytomegalovirus-infections
#7
J Gunkel, J Nijman, M A Verboon-Maciolek, T F W Wolfs, L S de Vries
AIM: This study evaluated the recognition and management practices with regard to congenital cytomegalovirus (cCMV) infections by a select group of experts and through a national surveillance study. METHOD: A questionnaire was sent to international experts involved in mother and infant care in 2014-2015. Monthly surveillance was conducted among Dutch paediatricians for cases of cCMV infections from 2013 until 2015. RESULTS: The questionnaire was completed by 63/103 (62%) respondents, who indicated that recognition and management practices varied...
April 17, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28414669/a-case-of-hepatosplentic-t-cell-lymphoma-a-rare-aggressive-tumor-of-the-young
#8
S Cingam, S Patel, N Koshy
INTRODUCTION: Hepatosplenic T-cell lymphoma (HSTCL); is an unusual entity first described in 1990 that predominantly affects middle-aged men and is classified by WHO under peripheral T-cell lymphomas. We present a 26-year-old man with HSCTL treated with a non-CHOP regimen. CASE: A 26 year old immigrant from Cameroon without significant past medical history presented with abdominal discomfort that was first noted 1 month prior at which time he was elbowed in abdomen during a basketball game...
March 2017: Journal of the Louisiana State Medical Society: Official Organ of the Louisiana State Medical Society
https://www.readbyqxmd.com/read/28412213/acute-mast-cell-leukemia-associated-with-t-4-5-q21-q33
#9
Ren Ching Wang, David Ward, Philip Dunn, Chung-Che Chang
To the best of our knowledge, this manuscript describes clinical, and pathologic findings of the first case of acute mast cell leukemia harboring t(4;5)(q21;q33), compatible with fusion of PDGFRB gene to a rare partner, PRKG2. Translocation involving PDGFRB gene is confirmed by FISH study. This case presented a relatively fulminant clinical course with acute mast cell leukemia and "C" findings (cytopenia, hepatosplenomegaly and weight loss), mast cell sarcoma and severe basophilia. Despite aggressive presentation initially, the patient responded well to TKI treatment and is currently in complete remission, 33months after diagnosis...
April 13, 2017: Human Pathology
https://www.readbyqxmd.com/read/28403691/novel-nlrc4-mutation-causes-a-syndrome-of-perinatal-autoinflammation-with-hemophagocytic-lymphohistiocytosis-hepatosplenomegaly-fetal-thrombotic-vasculopathy-and-congenital-anemia-and-ascites
#10
Jiancong Liang, Danielle N Alfano, James E Squires, Melissa M Riley, W Tony Parks, Julia Kofler, Areeg El-Gharbawy, Suneeta Madan-Kheterpal, Roxanne Acquaro, Jennifer Picarsic
Autoinflammatory diseases are caused by pathologic activation of the innate immune system. Primary hemophagocytic lymphohistiocytosis (HLH) is an aggressive syndrome of excessive immune activation caused by monogenic mutations resulting in cytotoxic cell defects and subsequent failure to eliminate activated macrophages. Secondary HLH is often diagnosed in cases without a known Mendelian inheritance. However, some cases of "secondary" HLH have been shown to harbor mutations with partial dysfunction of the cytotoxic system...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28403512/mitotic-figure-in-the-peripheral-blood-smear
#11
Sebastian Hörber, Ingo Rettig, Andreas Peter
A previously healthy 19-year-old man presented with fever, sore throat and strong feeling of illness. Physical examination showed strong swelling of throat tonsils and moderate hepatosplenomegaly. The laboratory values were as following: a total white blood count of 10.9 x 10(9) /L, hemoglobin 14.1 g/dL and a platelet count of 109 x 10(9) /L. Total bilirubin was 1.4 mg/dL and CRP was 1.32 mg/dL. The serological analyses revealed IgG and IgM antibodies against EBV-VCA consistent with an acute Epstein-Barr virus infection...
April 12, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28403058/multiorgan-involvement-confounding-the-diagnosis-of-bartonella-henselae-infective-endocarditis-in-children-with-congenital-heart-disease
#12
Christopher P Ouellette, Sarita Joshi, Karen Texter, Preeti Jaggi
Two children with congenital heart disease status post surgical correction presented with prolonged constitutional symptoms, hepatosplenomegaly and pancytopenia. Concern for malignancy prompted bone marrow biopsies that were without evidence thereof. In case 1, echocardiography identified a multilobulated vegetation on the conduit valve. In case 2, transthoracic, transesophageal and intracardiac echocardiography were performed and were without evidence of cardiac vegetations; however, pulmonic emboli raised concern for infective endocarditis...
May 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#13
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28382841/hepatocellular-carcinoma-in-fanconi-bickel-syndrome
#14
Jennifer Pogoriler, Allison F O'Neill, Stephan D Voss, Robert C Shamberger, Antonio R Perez-Atayde
Fanconi-Bickel syndrome is a rare autosomal recessive disorder due to mutations in the facilitative glucose transporter 2 ( GLUT2 or SLC2A2) gene resulting in excessive glycogen storage predominantly in the liver and kidney. Previous case reports of this condition have described liver biopsies with glycogen storage and variable steatosis and/or fibrosis. Unlike in other types of glycogen storage disease, hepatocellular adenomas and carcinomas have not been described to date in this syndrome. A 6-year-old boy with consanguineous parents had short stature, poorly controlled rickets, hepatosplenomegaly, and renal tubular dysfunction clinically consistent with Fanconi-Bickel Syndrome...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28376538/-hepatic-manifestation-of-a-macrophage-activation-syndrome-mas
#15
Michael Nagel, Andreas Schwarting, Beate K Straub, Peter R Galle, Tim Zimmermann
Background Elevated liver values are the most common pathological laboratory result in Germany. Frequent findings, especially in younger patients, are nutritive- or medicamentous- toxic reasons, viral or autoimmune hepatitis. A macrophage activation syndrome (MAS) may manifest like a viral infectious disease with fever, hepatosplenomegaly and pancytopenia and is associated with a high mortality. It is based on an enhanced activation of macrophages with increased cytokine release, leading to organ damage and multi-organ failure...
April 4, 2017: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/28369700/in-utero-presentation-of-aggressive-systemic-mastocytosis-in-a-neonate
#16
A Huang, N Fiadorchanka, K Brar, J L Balderacchi, S A Glick
Mastocytosis is a clinically heterogenous disease characterized by mast cell hyperplasia in skin, bone marrow, and/or visceral organs. Cutaneous mastocytosis (CM) is more frequently observed in children, while indolent systemic mastocytosis (ISM) is more commonly observed in adults. Aggressive systemic presentation, particularly, of the neonate, is exceptionally rare. We present a rare case of congenital aggressive systemic mastocytosis (ASM). The patient was a 37-week old male, born by Cesarean section due to hepatosplenomegaly and ascites diagnosed in-utero, who exhibited extensive cutaneous and systemic manifestations of mastocytosis at birth...
March 30, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28364836/molecular-diagnosis-and-phylogeographic-analysis-of-trypanosoma-evansi-in-dogs-canis-lupus-familiaris-suggest-an-epidemiological-importance-of-this-species-in-colombia
#17
Jeiczon Jaimes-Dueñez, Omar Triana-Chávez, Andrés Valencia-Hernández, Diana Sánchez-Arévalo, Alba Poche-Ceballos, José Ortíz-Álvarez, Ana M Mejía-Jaramillo
Surra disease is a zoonosis caused by Trypanosoma (Trypanozoon) evansi, a salivary trypanosome, originally from Africa, which affects a wide range of mammalian worldwide. Dogs are highly susceptible to T. evansi infection and they often exhibit strong clinical signs than can lead to death, even within weeks in untreated acute cases. The present survey is the first report through clinical, parasitological and molecular approaches, of two fatal cases of T. evansi in Colombian dogs. After analysing two presumptive cases of infection with Trypanosoma spp...
April 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28364056/visual-diagnosis-9-month-old-boy-with-coarse-facial-features-and-hepatosplenomegaly
#18
REVIEW
Jennifer Myaeng, Michael S L Ching, Veronica J Rooks
No abstract text is available yet for this article.
April 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/28355352/a-novel-frameshift-mutation-of-chediak-higashi-syndrome-and-treatment-in-the-accelerated-phase
#19
X L Wu, X Q Zhao, B X Zhang, F Xuan, H M Guo, F T Ma
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we present a case of a 9-month-old boy with continuous high fever, hypopigmentation of the skin, enlarged lymph nodes, hepatosplenomegaly and lung infection. He was diagnosed with CHS by gene sequencing, and had entered the accelerated phase...
March 23, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/28348785/retrospective-pcr-based-species-identification-of-leishmania-in-two-patients-with-visceral-leishmaniasis-in-serbia
#20
Zorica Dakić, Henrik Vedel Nielsen, Milorad Pavlović, Jasmina Poluga, Goran Stevanović, Lidija Lavadinović, Branko Milošević, Mijomir Pelemiš, Aleksandar Urošević, Snežana Jovanović, Christen Rune Stensvold
INTRODUCTION: Retrospective molecular identification of Leishmania parasites in two patients with visceral leishmaniasis (VL) previously treated in Serbia was carried out. DNA was isolated from unstained bone marrow smears (BMSs) kept for 11 and 8 years. Genus-specific real-time PCR was combined with conventional PCR and sequencing for detection and species identification. CASE PRESENTATION: In 2003, a 40-year-old Serbian male was admitted to the Clinical Centre of Serbia (CCS) with fever, sweating, fatigue and splenomegaly, which developed over a period of 7 weeks...
October 2016: JMM Case Reports
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