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hepatosplenomegaly

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https://www.readbyqxmd.com/read/28207863/identification-of-age-dependent-motor-and-neuropsychological-behavioural-abnormalities-in-a-mouse-model-of-mucopolysaccharidosis-type-ii
#1
Hélène F E Gleitz, Claire O'Leary, Rebecca J Holley, Brian W Bigger
Severe mucopolysaccharidosis type II (MPS II) is a progressive lysosomal storage disease caused by mutations in the IDS gene, leading to a deficiency in the iduronate-2-sulfatase enzyme that is involved in heparan sulphate and dermatan sulphate catabolism. In constitutive form, MPS II is a multi-system disease characterised by progressive neurocognitive decline, severe skeletal abnormalities and hepatosplenomegaly. Although enzyme replacement therapy has been approved for treatment of peripheral organs, no therapy effectively treats the cognitive symptoms of the disease and novel therapies are in development to remediate this...
2017: PloS One
https://www.readbyqxmd.com/read/28203580/unusual-presentation-of-diffuse-large-b-cell-lymphoma-with-splenic-infarcts
#2
Vivek Kumar, Parita Soni, Vishangi Dave, Jonathan Harris
A 67-year-old man presented with a 3-day history of abdominal pain, fever, and significant weight loss over 2 months. Physical examination revealed left upper quadrant tenderness, hepatomegaly, splenomegaly, and bilateral pitting edema but peripheral lymphadenopathy was absent. Laboratory tests showed anemia, thrombocytopenia, elevated prothrombin time (PT), partial thromboplastin time (PTT), and increased lactate dehydrogenase (LDH). PTT was corrected completely in mixing study. Further workup for the cause of coagulopathy revealed decreased levels of all clotting factors except factor VIII and increase fibrinogen levels, which ruled out disseminated intravascular coagulation (DIC)...
January 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#3
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28194072/an-unusual-cause-of-fever-generalized-lymphadenopathy-and-eosinophilia-in-a-hcv-positive-6-year-old-boy
#4
Rajesh Kumar, Prashant Sharma, Pranab Dey, Babu Ram Thapa
A 6-year-old boy presented with a 3-month history of high-grade fever and night-sweats but without chills/rigors. On examination, he had moderate hepatosplenomegaly with multiple enlarged cervical and axillary lymph nodes. His hemogram revealed anemia and marked eosinophilia. Initial investigations were negative, except anti-HCV IgG antibodies, that were positive. Bone marrow aspirate showed a single histiocyte containing suspicious intracellular yeast-like forms. Cervical lymph node aspiration revealed a heavy load of intra- and extra-cellular Histoplasma spp...
March 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28191297/leishmania-infantum-and-epstein-barr-virus-co-infection-in-a-patient-with-hemophagocytosis
#5
Zied Gaifer, Mohamed-Rachid Boulassel
The authors describe a rare case of a 27- year old previously healthy male presenting with high grade fever, pancytopenia, hepatosplenomegaly, high levels of ferritin and triglyceride, suggesting a diagnosis of hemophagocytic lymphohistiocytosis (HLH) syndrome. Other investigations showed a positive Leishmania infantum serology and high Epstein-Barr virus (EBV) viremia. The diagnosis of a visceral leishmaniasis was confirmed by bone morrow biopsy, which showed Leishman-Donovan bodies and evidence of HLH. The patient received liposomal amphotericin B and he had a complete resolution of his symptoms and clearance of EBV viremia...
December 31, 2016: Infectious Disease Reports
https://www.readbyqxmd.com/read/28188950/hemophagocytic-lymphohistiocytosis-in-a-neonate-case-report
#6
Pari Zarrini, Ziba Mosayebi, Asghar Ramyar, Hosein Dalili
 Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, occurring as either a familial disorder or a sporadic condition, in association with a variety of triggers. This article will introduce a neonate with HLH in Iran. We report a case of HLH presenting with respiratory distress and fever, hepatosplenomegaly, jaundice and pancytopenia on the second day of life. Typical clinical and laboratory findings were detected in the neonate. HLH was diagnosed according to HLH-2004 guidelines...
January 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28188140/angioimmunoblastic-t-cell-lymphoma-with-polyarthritis-resembling-rheumatoid-arthritis
#7
Ralph Yachoui, Nouman Farooq, Jonathan V Amos, Gene R Shaw
Angioimmunoblastic T-cell lymphoma (AITL) is a rare subtype of peripheral T-cell lymphoma (PTCL). AITL typically presents with lymphadenopathy, fever, rash, hepatosplenomegaly, and rarely polyarthritis. We report the case of a 50-year-old female who presented with lymphadenopathy, rash, and symmetric polyarthritis. She was later diagnosed with AITL and was treated with chemotherapy with resolution of arthritis. AITL should be suspected in paitents presenting with rheumatoid-like arthritis and diffuse lymphadenopathy...
December 2016: Clinical Medicine & Research
https://www.readbyqxmd.com/read/28179943/synthesis-of-multi-lactose-appended-%C3%AE-cyclodextrin-and-its-cholesterol-lowering-effects-in-niemann-pick-type-c-disease-like-hepg2-cells
#8
Keiichi Motoyama, Rena Nishiyama, Yuki Maeda, Taishi Higashi, Yoichi Ishitsuka, Yuki Kondo, Tetsumi Irie, Takumi Era, Hidetoshi Arima
Niemann-Pick type C (NPC) disease, characterized by intracellular accumulation of unesterified cholesterol and other lipids owing to defects in two proteins NPC1 and NPC2, causes neurodegeneration and other fatal neurovisceral symptoms. Currently, treatment of NPC involves the use of 2-hydroxypropyl-β-cyclodextrin (HP-β-CD). HP-β-CD is effective in the treatment of hepatosplenomegaly in NPC disease, albeit at a very high dose. One of the methods to reduce the required dose of HP-β-CD for treatment of NPC is to actively targeting hepatocytes with β-cyclodextrin (β-CD)...
2017: Beilstein Journal of Organic Chemistry
https://www.readbyqxmd.com/read/28179030/survival-in-infants-treated-with-sebelipase-alfa-for-lysosomal-acid-lipase-deficiency-an-open-label-multicenter-dose-escalation-study
#9
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang, Vassili Valayannopoulos
BACKGROUND: Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, which is associated with high morbidity and mortality in this population. The study objective was to evaluate safety and efficacy (including survival) of enzyme replacement with sebelipase alfa in infants with lysosomal acid lipase deficiency...
February 8, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28164782/types-a-and-b-niemann-pick-disease
#10
REVIEW
Edward H Schuchman, Robert J Desnick
The eponym Niemann-Pick disease (NPD) refers to a group of patients who present with varying degrees of lipid storage and foam cell infiltration in tissues, as well as overlapping clinical features including hepatosplenomegaly, pulmonary insufficiency and/or central nervous system (CNS) involvement. Due to the pioneering work of Roscoe Brady and co-workers, we now know that there are two distinct metabolic abnormalities that account for NPD. The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM; "types A & B" NPD), and the second is due to defective function in cholesterol transport ("type C" NPD)...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28144704/gaucher-disease-in-the-liver-on-hepatocyte-specific-contrast-agent-enhanced-mr-imaging
#11
Rama S Ayyala, Lisa A Teot, Jeanette M Perez Rossello
Gaucher disease is a hereditary lipid storage disorder that affects the enzyme beta glucocerebrosidase, causing accumulation of glucocerebroside in macrophages of the reticuloendothelial system. Accumulation can occur in the liver and spleen, manifesting as hepatosplenomegaly, as well as within the bone marrow. Hepatic involvement is usually diffuse but can occasionally manifest as focal liver lesions. We present a case of a 2-year-old boy with Gaucher disease and an infiltrating liver lesion detected on imaging, which was pathologically shown to be focal changes related to the disease...
February 1, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28121748/disseminated-nonleukemic-myeloid-sarcoma-of-the-spleen-with-involvement-of-the-liver-in-an-infant
#12
Yueli Rao, Yuanyuan Wu, Ao Dong, Kun Zhu, Wei Li, Shenyang Cai, Min Yang, Jie Yan
Nonleukemic myeloid sarcoma (MS) is a rare tumor that can occur in several locations without myeloid leukemia. We reported a first case of nonleukemic MS of the spleen involving the liver in a 5-month-old boy presenting with hematochezia, petechial hemorrhage, fever, and hepatosplenomegaly. Bone marrow trephine biopsy and immunophenotypic flow cytometry revealed no evidence of myeloid leukemia. The patient underwent liver biopsy and splenectomy. Clinicopathology and immunohistochemistry suggested a disseminated nonleukemic MS...
January 24, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28111307/jak1-gain-of-function-causes-an-autosomal-dominant-immune-dysregulatory-and-hypereosinophilic-syndrome
#13
Kate L Del Bel, Robert J Ragotte, Aabida Saferali, Susan Lee, Suzanne M Vercauteren, Sara A Mostafavi, Richard A Schreiber, Julie S Prendiville, Min S Phang, Jess Halperin, Nicholas Au, John M Dean, Emily Jewels, Anne K Junker, Paul C Rogers, Michael Seear, Margaret L McKinnon, Stuart E Turvey
Germline JAK1 gain-of-function mutations cause autosomal dominant immune dysregulation and hypereosinophilia with eosinophilic infiltration of the gastrointestinal tract, massive hepatosplenomegaly and severe atopic dermatitis that can be successfully treated with ruxolitinib, an oral JAK1/2 inhibitor.
January 19, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#14
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28094456/waldenstr%C3%A3-m-macroglobulinemia-2017-update-on-diagnosis-risk-stratification-and-management
#15
Morie A Gertz
: Disease Overview: Waldenström macroglobulinemia (WM) is a lymphoplasmacytic lymphoma with immunoglobulin M (IgM) monoclonal protein. Clinical features include anemia, thrombocytopenia, hepatosplenomegaly, lymphadenopathy, and rarely hyperviscosity. DIAGNOSIS: Presence of IgM monoclonal protein associated with ≥10% clonal lymphoplasmacytic cells in bone marrow confirms the diagnosis. The L265P mutation in MYD88 is detectable in more than 90% of patients. Risk Stratification: Age, hemoglobin level, platelet count, β2 microglobulin, and monoclonal IgM concentrations are characteristics required for prognosis...
February 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28093696/secondary-haemophagocytic-lymphohistiocytosis-triggered-by-postnatally-acquired-cytomegalovirus-infection-in-a-late-preterm-infant
#16
Christine Silwedel, Eric Frieauff, Wolfgang Thomas, Johannes G Liese, Christian P Speer
Haemophagocytic lymphohistiocytosis (HLH) is a hyperinflammatory condition with impairment of cytotoxic T-cells and natural killer cells. Causes in infants are mostly hereditary immune defects as well as various infectious triggering factors, amongst these cytomegalovirus (CMV). Vertical CMV transmission may occur in utero, during birth, and by breast feeding. Usually, a CMV infection transmitted via breast milk is symptomatic only in very immature preterm infants. We report on a late preterm infant born after 35 + 5 weeks of gestation with a birth weight of 1840 g, being admitted to our intensive care unit at the age of 9 weeks with acute enteritis and severe dehydration...
January 16, 2017: Infection
https://www.readbyqxmd.com/read/28087919/presumptive-spontaneous-lysosomal-storage-like-disease-in-a-crl-cd1-icr-mouse
#17
Krista M
A clinically unremarkable 4.5-mo-old female Crl:CD1(ICR) VAF/Elite mouse was euthanized for scheduled sentinel processing.Gross necropsy findings included significant hepatosplenomegaly and visceral lymphadenomegaly, resulting in a preliminarygross diagnosis of lymphoma. Histology revealed florid accumulations of large, 'foamy' macrophages present in the bone marrow, small intestines, and viscera including liver, spleen, lymph nodes, thymus, uterus, and ovaries. The cytoplasm of these cells was abundant, stained pale blue with Wright-Giemsa and was periodic acid-Schiff positive...
January 13, 2017: Comparative Medicine
https://www.readbyqxmd.com/read/28087540/international-evidence-based-consensus-diagnostic-criteria-for-hhv-8-negative-idiopathic-multicentric-castleman-disease
#18
David C Fajgenbaum, Thomas S Uldrick, Adam Bagg, Dale Frank, David Wu, Gordan Srkalovic, David Simpson, Amy Y Liu, David Menke, Shanmuganathan Chandrakasan, Mary Jo Lechowicz, Raymond S M Wong, Sheila Pierson, Michele Paessler, Jean-François Rossi, Makoto Ide, Jason Ruth, Michael Croglio, Alexander Suarez, Vera Krymskaya, Amy Chadburn, Gisele Colleoni, Sunita Nasta, Raj Jayanthan, Christopher S Nabel, Corey Casper, Angela Dispenzieri, Alexander Fosså, Dermot Kelleher, Razelle Kurzrock, Peter Voorhees, Ahmet Dogan, Kazuyuki Yoshizaki, Frits van Rhee, Eric Oksenhendler, Elaine S Jaffe, Kojo S J Elenitoba-Johnson, Megan S Lim
Human Herpesvirus-8(HHV-8)-negative, idiopathic multicentric Castleman disease (iMCD) is a rare and life-threatening disorder involving systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction due to a cytokine storm often including interleukin-6. iMCD accounts for one-third to one-half of all cases of MCD and can occur in individuals of any age. Accurate diagnosis is challenging, as no standard diagnostic criteria or diagnostic biomarkers currently exist, and there is significant overlap with malignant, autoimmune, and infectious disorders...
January 13, 2017: Blood
https://www.readbyqxmd.com/read/28072956/-clinical-and-immunological-analysis-of-the-patient-with-autoimmunity-due-to-germline-stat3-gain-of-function-mutation
#19
Y Ding, Y Zhang, Y P Wang, H Y Zhao, X M Chen, X H Xue, X M Bai, Y F An, Z Y Zhang, X M Tang, X D Zhao
Objective: To investigate the clinical and immunological laboratory features and gene mutation in a female patient who carried a germline gain-of-function mutation in STAT3. Method: A patient with lymphadenopathy and pancytopenia, visited the Department of Rheumatology and Immunology of Children's Hospital of Chongqing Medical University in May 2016. The clinical and laboratory characteristics, results of immunophenotyping and exome sequencing were analyzed retrospectively and related literature was reviewed...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28072954/-clinical-and-immunological-analysis-of-patients-with-activated-phosphoinositide-3-kinase-%C3%AE-syndrome-resulting-from-pik3cd-mutation
#20
W J Tang, W Wang, Y Luo, Y P Wang, L Li, Y F An, L J Gou, M S Ma, T Y He, J Yang, X D Zhao, H M Song
Objective: To explore the clinical and immunological features, gene mutations, treatment and prognosis in patients with activated phosphoinositide 3-kinase δ syndrome (APDS) caused by PIK3CD gene heterozygous germline mutation. Method: The data of clinical, immunological phenotype, treatment, and prognosis of 15 patients with APDS, who visited Children's Hospital of Chongqing Medical University, Peking Union Medical College Hospital, and Shenzhen Children's Hospital from June 2014 to November 2016, were collected and analyzed...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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