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https://www.readbyqxmd.com/read/29457916/systematic-review-of-psychiatric-signs-in-niemann-pick-disease-type-c
#1
Olivier Bonnot, Hans-Hermann Klünemann, Christian Velten, Juan Vicente Torres Martin, Mark Walterfang
OBJECTIVES: We conducted the first systematic literature review and analysis of psychiatric manifestations in Niemann-Pick disease type C (NPC) to describe: 1) time of occurrence of psychiatric manifestations relative to other disease manifestations; 2) frequent combinations of psychiatric, neurological and visceral disease manifestations. METHODS: A systematic EMBase literature search was conducted to identify, collate and analyze published data from patients with NPC associated with psychiatric symptoms, published between January 1967 and November 2015...
February 19, 2018: World Journal of Biological Psychiatry
https://www.readbyqxmd.com/read/29456618/an-unusual-presentation-of-adult-t-cell-leukemia-lymphoma
#2
Mohammed Tag-Adeen, Keiichi Hashiguchi, Yuko Akazawa, Ken Ohnita, Sawayama Yasushi, Niino Daisuke, Kazuhiko Nakao
Adult T-cell Leukemia/Lymphoma (ATL) is a rare disease, related to human T-lymphotropic virus-1 (HTLV-1) and presented mainly in adulthood by generalised lymphadenopathy, hepatosplenomegaly, skin lesions and hypercalcaemia, with rare gastrointestinal and/or oral manifestations. We reported this case to raise awareness and demonstrate the therapeutic challenges of this rare disease. A 49-year-old Japanese female presented with skin papules on both forearms, painful mouth ulcers and multiple neck swellings since early February 2017...
2018: Ecancermedicalscience
https://www.readbyqxmd.com/read/29455176/late-diagnosis-a-case-of-rapidly-progressive-extranodal-nk-t-cell-lymphoma-nasal-type
#3
Hiroyuki Mori, Kei Ebisawa, Mitsushige Nishimura, Kenji Kanazawa
Extranodal natural killer (NK)/T cell lymphoma, nasal type is a condition that has poor prognosis. Accurate diagnosis of lymphoma is made by pathological findings. We report a case of extranodal NK/T cell lymphoma, nasal type affecting the lung and liver and which was difficult to diagnose because of negative biopsy results from multiple sites. A 39-year-old man who had dry cough and fever for 1 month was referred to our hospital. He had pancytopenia and elevated serum levels of lactate dehydrogenase and soluble interleukin-2 receptor...
February 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29447718/no-240-cytomegalovirus-infection-in-pregnancy
#4
Yoav Yinon, Dan Farine, Mark H Yudin
OBJECTIVES: To review the principles of prenatal diagnosis of congenital cytomegalovirus (CMV) infection and to describe the outcomes of the affected pregnancies. OUTCOMES: Effective management of fetal infection following primary and secondary maternal CMV infection during pregnancy. Neonatal signs include intrauterine growth restriction (IUGR), microcephaly, hepatosplenomegaly, petechiae, jaundice, chorioretinitis, thrombocytopenia and anemia, and long-term sequelae consist of sensorineural hearing loss, mental retardation, delay of psychomotor development, and visual impairment...
February 2018: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29445937/secondary-hemophagocytic-syndrome-associated-with-cog6-gene-defect-report-and-review
#5
Nouf Althonaian, Abdulrahman Alsultan, Eva Morava, Majid Alfadhel
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency...
February 15, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29428971/emergence-of-anti-mitochondrial-m2-antibody-in-patient-with-angioimmunoblastic-t-cell-lymphoma
#6
Shun-Ichi Wakabayashi, Takefumi Kimura, Naoki Tanaka, Satoru Joshita, Kazuhito Kawata, Takeji Umemura, Yuki Hiroshima, Hiromitsu Mori, Hikaru Kobayashi, Shuichi Wada, Eiji Tanaka
A 68-year-old woman was referred to our hospital due to fever and rash on the neck and extremities. Laboratory findings revealed hepatic dysfunction and positivity for anti-mitochondrial M2 antibody (AMA-M2). Hepatosplenomegaly and systemic lymphadenopathy were detected by enhanced computed tomography. One week after her first visit, hypoxemia, ascites, and Coomb test-positive autoimmune hemolytic anemia had newly appeared in addition to worsened fever, hepatosplenomegaly, and lymphadenopathy. Results of axillary lymph node, skin, and bone-marrow biopsies led to the diagnosis of angioimmunoblastic T-cell lymphoma (AITL), for which CEPP therapy (cyclophosphamide, etoposide, procarbazine, and prednisolone) was initiated...
February 10, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29415942/-initial-presentation-of-lymphoblastic-crisis-in-a-pediatric-chronic-myelogenous-leukemia-patient
#7
Kosuke Akiyama, Shohei Yamamoto, Yumiko Sugishita, Ryota Kaneko, Naoko Okamoto, Masaya Koganesawa, Sachio Fujita, Ryosuke Matsuno, Daisuke Toyama, Keiichi Isoyama
A 9-year-old girl was referred to our hospital because of facial palsy. Both physical and blood examination revealed hepatosplenomegaly and leukocytosis, respectively. A bone marrow examination demonstrated marked hypercellularity involving myeloblasts and lymphoblasts. Based on these results, we suspected mixed phenotype acute leukemia. However, her leukemic blasts expressed B-cell antigens, and a chromosomal analysis of her bone marrow cells revealed the following karyotype: 46, XX, t (9;22) (q34;q11.2). All her neutrophils were positive for the breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1 fusion protein...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29414276/case-4-2018-a-newborn-with-thrombocytopenia-cataracts-and-hepatosplenomegaly
#8
Robert S Baltimore, Katherine Nimkin, Katherine A Sparger, Virginia M Pierce, Stanley A Plotkin
No abstract text is available yet for this article.
February 8, 2018: New England Journal of Medicine
https://www.readbyqxmd.com/read/29397615/-clinical-features-and-gene-mutation-analysis-of-patients-with-niemann-pick-disease-type-c
#9
S C Ren, Z X Tian, Y X Deng, Y J Wang, X J Wu, Y Z Zhang, B Q Gao
Objective: To analyze the clinical manifestations, therapeutic efficacy, prognosis and characteristics of NPC1 mutation in Chinese patients with Niemann-Pick disease type C(NPC). Methods: Ten unrelated Chinese NPC patients were diagnosed by NPC1 mutation analysis from July 2013 to February 2017 in Beijing Tian Tan Hospital of Capital Medical University. Clinical data of 10 cases were analyzed retrospectively which included clinical manifestations, laboratory results and NPC1 gene mutation features, and a series of follow-up were carried out about therapeutic efficacy and prognosis...
January 23, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29396028/cutis-laxa-exocrine-pancreatic-insufficiency-and-altered-cellular-metabolomics-as-additional-symptoms-in-a-new-patient-with-atp6ap1-cdg
#10
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G Christoph Korenke, Christian Thiel
Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542T>G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H+-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures...
January 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29390386/hemophagocytic-lymphohistiocytosis-in-an-adult-kidney-transplant-recipient-successfully-treated-by-plasmapheresis-a-case-report-and-review-of-the-literature
#11
REVIEW
Christian Nusshag, Christian Morath, Martin Zeier, Markus A Weigand, Uta Merle, Thorsten Brenner
RATIONALE: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease entity primarily described in children, but not less relevant in adults. It is characterized by a misdirected activation of the immune system, resulting in an uncontrolled cytokine release from macrophages and cytotoxic T-cells (CTLs). Primary HLH relies on a genetic predisposition, whereas secondary HLH develops in the context of infections, malignancies or autoimmune diseases. However, the awareness and therapeutic knowledge for HLH in adulthood is limited...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29386979/a-comparison-of-ultrasonography-computerised-tomography-and-conventional-mri-findings-for-splenic-nodules-associated-with-type-1-gaucher-s-disease-with-diffusion-weighted-mri-findings
#12
Eda Albayrak, Fitnet Sonmezgoz, Zafer Ozmen, Fatma Aktas, Aysegul Altunkas
A 26-year-old female patient with Type 1 Gaucher's disease (GD) was admitted to our clinic with complaints of stomachache and signs of anemia. The patient underwent ultrasonography (US), computerised tomography (CT), and magnetic resonance imaging (MRI) scan. Imaging studies revealed massive hepatosplenomegaly, choledocolithiasis, and six nodules in the spleen with a mean size of 14 mm. The nodules appeared hyperechoic, hypoechoic, and of mixed echogenicity on the US and hypodense on the CT. While the nodules were observed to be iso-hypointense in T1-weighted (T1WI) images, they appeared to be hyperintense in the T2-weighted (T2WI) images...
October 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/29379554/variable-clinical-presentation-of-glycogen-storage-disease-type-iv-from-severe-hepatosplenomegaly-to-cardiac-insufficiency-some-discrepancies-in-genetic-and-biochemical-abnormalities
#13
Edyta Szymańska, Sylwia Szymańska, Grażyna Truszkowska, Elżbieta Ciara, Maciej Pronicki, Yoon S Shin, Teodor Podskarbi, Alina Kępka, Mateusz Śpiewak, Rafał Płoski, Zofia T Bilińska, Dariusz Rokicki
No abstract text is available yet for this article.
January 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29379544/the-influence-of-various-therapeutic-regimens-on-early-clinical-and-laboratory-response-and-outcome-of-children-with-secondary-hemophagocytic-lymphohistiocytosis
#14
Piotr Buda, Piotr Gietka, Janusz B Książyk, Maciej Machaczka
Introduction: Secondary hemophagocytic lymphohistiocytosis (sHLH) is a life-threatening syndrome of severe hyperinflammation which is often triggered by infection or autoimmune disease (macrophage activation syndrome - MAS). The aim of our study was to assess the frequency of sHLH/MAS in children treated in our institution and to compare the effectiveness of various therapeutic interventions. Material and methods: Between 2005 and 2013, 24 children (age: 1-17 years) were consecutively treated for sHLH/MAS...
January 2018: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/29367362/primary-meningococcal-arthritis-as-a-presentation-of-nodal-marginal-zone-lymphoma
#15
Gemma Ann Joan Harrop, Jane Tighe, Alexander MacKenzie
A 68-year-old man presented with a 4-day history of worsening knee and arm pain. On examination, there was erythema and swelling of the left knee and both wrists. Joint aspiration grew Neisseria meningitidis Blood tests showed an unusually high total protein level (100 g/L) and an IgM kappa paraprotein band of 45 g/L on protein electrophoresis. CT showed widespread lymphadenopathy, hepatosplenomegaly and multilevel thoracic vertebral collapse. A bone marrow biopsy revealed a lymphoplasmacytic infiltrate and a lymph node biopsy showed features of nodal marginal zone lymphoma with plasmacytic differentiation...
January 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29364802/-infectious-mononucleosis-and-cholestatic-hepatitis-a-rare-association
#16
Catarina Salgado, Ana Margarida Garcia, Catarina Rúbio, Florbela Cunha
Infectious mononucleosis is one of the major clinical manifestations of Epstein-Barr virus infection. In this syndrome, elevation of liver transaminase levels is common but cholestasis is rare, with few cases described in the literature. We present the case of a 14-year-old female adolescent, admitted to the Emergency Room with fever, odynophagia and cervical adenomegaly. She was treated with amoxicillin and two days later he presented with jaundice. The analytical evaluation was compatible with cholestatic hepatitis and abdominal ultrasound revealed hepatosplenomegaly without dilatation of the bile ducts...
December 29, 2017: Acta Médica Portuguesa
https://www.readbyqxmd.com/read/29356737/rare-variant-of-intravascular-large-b-cell-lymphoma-with-hemophagocytic-syndrome
#17
Joseph S Donald, Nick Barnthouse, Delphine L Chen
Intravascular lymphoma (IVL) is a rare subtype of diffuse large B-cell lymphoma characterized by a clonal proliferation of lymphocytes restricted to the intravascular space. We present the case of a 60-year-old man with hemophagocytic syndrome secondary to IVL. F-FDG PET/CT demonstrated hepatosplenomegaly with marked diffuse hepatic, splenic, and bone marrow hypermetabolism. The case report illustrates the imaging findings of this uncommon variant of IVL.
January 19, 2018: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29354164/actual-reason-for-bone-fractures-in-the-case-of-a-patient-followed-up-with-the-osteogenesis-imperfecta-gaucher-s-disease
#18
Ufuk Demirci, Ahmet Çizmecioglu, Ismet Aydogdu
Gaucher's disease (GD) is a rare disease characterized by a β-glucocerebroside accumulation in the reticulo-endothelial system. Patients may refer to the clinic with complaints of bone pain, hepatosplenomegaly, anemia, thrombocytopenia, growth retardation, interstitial pulmonary disease, pulmonary hypertension, and skeletal disorders. Skeletal system involvement is observed commonly in Gaucher patients and a significant cause of morbidity. Our patient was followed for several years as a glass child - osteogenesis imperfecta and he had joint deformities due to skeletal fractures...
September 2017: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/29342995/-pediatric-myeloid-neoplasms-associated-with-eosinophilia-and-platelet-derived-growth-factor-receptor-beta-gene-rearrangement-a-case-report-and-literature-review
#19
X Y Zhang, T F Liu, C W Li, Q H Li, X F Zhu
Objective: To investigate the clinical features and therapeutic strategies of childhood myeloid neoplasms associated with eosinophilia and platelet-derived growth factor receptor beta (PDGFRB) gene rearrangement. Methods: Clinical data of myeloid neoplasms associated with eosinophilia and t (1;5) (q21;q33) chromosomal translocation of PDGFRB gene rearrangement in a child hospitalized in Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences on May 2015 was collected and analyzed...
January 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29340494/niemann-pick-disease-type-b-hrct-assessment-of-pulmonary-involvement
#20
Heloisa Maria Pereira Freitas, Alexandre Dias Mançano, Rosana Souza Rodrigues, Bruno Hochhegger, Pedro Paulo Teixeira E Silva Torres, Dante Escuissato, Cesar Augusto Araujo Neto, Edson Marchiori
OBJECTIVE: To analyze HRCT findings in patients with Niemann-Pick disease (NPD) type B, in order to determine the frequency of HRCT patterns and their distribution in the lung parenchyma, as well as the most common clinical characteristics. METHODS: We studied 13 patients (3 males and 10 females) aged 5 to 56 years. HRCT images were independently evaluated by two observers, and disagreements were resolved by consensus. The inclusion criteria were presence of abnormal HRCT findings and diagnosis of NPD type B confirmed by histopathological examination of a bone marrow, lung, or liver biopsy specimen...
November 2017: Jornal Brasileiro de Pneumologia: Publicaça̋o Oficial da Sociedade Brasileira de Pneumologia e Tisilogia
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