Search results for "Splenomegaly"

showing 10 items of 45 documents

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

2016

WOS: 000377110800007

0301 basic medicineAdultMalePediatricsmedicine.medical_specialtyAdolescentMucopolysaccharidosisSly syndromeHepatosplenomegalyMetabolic disordersMucopolysaccharidosis VIIMedical and Health Sciences03 medical and health sciencesYoung Adult0302 clinical medicineHydrops fetalisSurveys and QuestionnairesmedicineGeneticsHumansMedical history1506Clinical geneticsFamily historyPreschoolChildGenetics (clinical)GlucuronidaseGenetics & Hereditybusiness.industryGenotype-Phenotype CorrelationsMucopolysaccharidosis VIIInfantEnzyme replacement therapyBiological Sciencesmedicine.diseaseLysosomal Storage Diseases030104 developmental biologyPhenotypeClinical genetics Genetics Metabolic disordersChild PreschoolFemalemedicine.symptombusiness030217 neurology & neurosurgeryMPS ; lysosomal storage disease ; β-glucuronidase
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Disease severity in patients with visceral leishmaniasis is not altered by co-infection with intestinal parasites

2017

Visceral leishmaniasis (VL) is a neglected tropical disease that affects the poorest communities and can cause substantial morbidity and mortality. Visceral leishmaniasis is characterized by the presence of Leishmania parasites in the spleen, liver and bone marrow, hepatosplenomegaly, pancytopenia, prolonged fever, systemic inflammation and low body mass index (BMI). The factors impacting on the severity of VL are poorly characterized. Here we performed a cross-sectional study to assess whether co-infection of VL patients with intestinal parasites influences disease severity, assessed with clinical and haematological data, inflammation, cytokine profiles and BMI. Data from VL patients was s…

0301 basic medicineMaleIMPACTPhysiologyHepatosplenomegalySystemic inflammationPathology and Laboratory MedicineTHERAPYSeverity of Illness IndexBody Mass Index0302 clinical medicineIntestinal ParasitesBone MarrowZoonosesImmune PhysiologyMedicine and Health SciencesIntestinal Diseases ParasiticHELMINTH INFECTIONSLeishmaniasisImmune ResponseInnate Immune SystembiologyCoinfectionlcsh:Public aspects of medicineASCARIASIS11 Medical And Health SciencesHematologyPancytopenia3. Good healthInfectious DiseasesCytokinesLeishmaniasis Visceralmedicine.symptomLife Sciences & BiomedicineHepatomegalyResearch ArticleNeglected Tropical DiseasesAdultlcsh:Arctic medicine. Tropical medicineAdolescentlcsh:RC955-962030231 tropical medicineImmunology03 medical and health sciencesYoung AdultSigns and SymptomsDONOVANIDiagnostic MedicineTropical MedicineHOOKWORMSeverity of illnessmedicineParasitic DiseasesAnimalsHumansParasitesInflammationScience & TechnologyProtozoan InfectionsINTERFERON-GAMMAbusiness.industryPublic Health Environmental and Occupational HealthTropical diseaseBiology and Life SciencesLeishmaniasislcsh:RA1-127006 Biological SciencesMolecular DevelopmentINTERLEUKIN-10Leishmaniabiology.organism_classificationmedicine.diseaseTropical Diseases030104 developmental biologyVisceral leishmaniasisCross-Sectional StudiesLogistic ModelsCase-Control StudiesCo-InfectionsImmune SystemImmunologySplenomegalyUNDERNUTRITIONParasitologyEthiopiabusinessParasitic Intestinal DiseasesSpleenDevelopmental Biology
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Baseline Splenic Volume as a Prognostic Biomarker of FOLFIRI Efficacy and a Surrogate Marker of MDSC Accumulation in Metastatic Colorectal Carcinoma

2020

Background: Predictive biomarkers of response to chemotherapy plus antiangiogenic for metastatic colorectal cancer (mCRC) are lacking. The objective of this study was to test the prognostic role of splenomegaly on baseline CT scan. Methods: This study is a sub-study of PRODIGE-9 study, which included 488 mCRC patients treated by 5-fluorouracil, leucovorin and irinotecan (FOLFIRI) and bevacizumab in first line. The association between splenic volume, and PFS and OS was evaluated by univariate and multivariable Cox analyses. The relation between circulating monocytic Myeloid derived suppressor cells (mMDSC) and splenomegaly was also determined. Results: Baseline splenic volume &gt

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtyBevacizumabColorectal cancermedicine.medical_treatment[SDV]Life Sciences [q-bio]MDSClcsh:RC254-282Article03 medical and health sciences0302 clinical medicineInternal medicineMedicinePrognostic biomarkerprognostic biomarkerChemotherapysplenomegalybusiness.industrySurrogate endpointmetastatic colorectal cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasedigestive system diseases3. Good healthIrinotecan030104 developmental biologyOncology030220 oncology & carcinogenesisMyeloid-derived Suppressor CellFOLFIRIcirculating monocytic myeloid derived suppressor cellsbusinessmedicine.drugCancers
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AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.

2020

Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins. The consequence is a progressive accumulation of substrates in these intracellular organelles, resulting in cellular and tissue damage. The overall incidence is about 1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable, according to the specific enzymatic d…

AdultHepatosplenomegalyLysosomal acid lipase deficiencyBioinformaticsOrganomegaly03 medical and health sciencesLiver disease0302 clinical medicinemedicineCholesteryl ester storage disease Enzyme replacement therapy Gaucher disease Lysosomal acid lipase Niemann–Pick disease deficiency Substrate reduction therapyHumansSubstrate reduction therapyEnzyme Replacement TherapySocieties MedicalNiemann-Pick DiseasesAcid sphingomyelinase deficiencyGaucher DiseaseHepatologybusiness.industryGastroenterologyWolman DiseaseEnzyme replacement therapymedicine.diseaseLysosomal Storage DiseasesSphingomyelin PhosphodiesteraseItaly030220 oncology & carcinogenesis030211 gastroenterology & hepatologymedicine.symptombusinessNiemann–Pick diseaseLysosomesVisceromegalyDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Adult-onset Still’s disease: evaluation of prognostic tools and validation of the systemic score by analysis of 100 cases from three centers

2016

Background: Adult-onset Still's disease (AOSD) is rare inflammatory disease of unknown etiology that usually affects young adults. The more common clinical manifestations are spiking fevers, arthritis, evanescent rash, elevated liver enzymes, lymphadenopathy, hepatosplenomegaly, and serositis. The multi-visceral involvement of the disease and the different complications, such as macrophage activation syndrome, may strongly decrease the life expectancy of AOSD patients. Methods: This study aimed to identify the positive and negative features correlated with the outcome of patients. A retrospective analysis of AOSD patients prospectively admitted to three rheumatologic centers was performed t…

AdultMale0301 basic medicinemedicine.medical_specialtyPrognosiHepatosplenomegalyArthritisDiseaseAdult-onset Still's diseaseYoung Adult03 medical and health sciencesSystemic score0302 clinical medicineRetrospective StudieInternal medicinemedicineHumansYoung adultRetrospective StudiesAdult-onset Still’s diseaseMedicine(all)030203 arthritis & rheumatologyPrognostic factorbusiness.industryMedicine (all)BiomarkerGeneral MedicineMiddle AgedPrognosismedicine.diseaseRashSurgerySettore MED/16 - Reumatologia030104 developmental biologyMacrophage activation syndromeMacrophage activation syndromeEtiologyAdult-onset Still’s disease; Macrophage activation syndrome; Prognostic factor; Systemic scoreFemalemedicine.symptombusinessStill's Disease Adult-OnsetSerositisBiomarkersHumanResearch ArticleBMC Medicine
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A case of bowel schistosomiasis not adhering to endoscopic findings

2005

Schistosomiasis is a chronic worm infection caused by a species of trematodes, the Schistosomes. We may distinguish a urinary form from Schistosomes haematobium and an intestinal-hepatosplenic form mainly from Schistosomes mansoni characterized by nausea, meteorism, abdominal pain, bloody diarrhea, rectal tenesmus, and hepatosplenomegaly. These infections represent a major health issue in Africa, Asia, and South America, but recently S mansoni has increased its prevalence in other continents, such as Europe countries and North America, due to international travelers and immigrants, with several diagnostic and prevention problems. We report a case of a 24-year-old patient without HIV infecti…

AdultMaleAbdominal painmedicine.medical_specialtySettore MED/09 - Medicina InternaHepatosplenomegalyColonoscopyCase ReportSchistosomiasisGastroenterologyPraziquantelFeceschemistry.chemical_compoundMesalazineIntestinal mucosaInternal medicineparasitic diseasesmedicineAnimalsHumansIntestinal MucosaParasite Egg CountSchistosomaAnthelminticsbiologymedicine.diagnostic_testGastroenterologybowel schistosomiasis; endoscopic findingsGeneral Medicinebiology.organism_classificationmedicine.diseaseRectal tenesmusSchistosomiasis mansonichemistryImmunologySchistosomamedicine.symptomWorld Journal of Gastroenterology
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Fever of Unclear Origin and Cytopenia Because of Acute Splenic Sequestration in a Young Immunocompetent Carrier of Beta-Globin Mutation for Hb Vallet…

2008

Fever of unclear origin is a clinical challenge in medical practice. Infectious diseases, neoplasms, and collagen vascular illnesses are its main causes in adults and children. Acute splenic sequestration crises, a known potentially fatal complication of sickle cell disease and sickle beta-thalassemia, are uncommon in beta-heterozygosis. We describe a case of prolonged recurrent episodes of fever with spontaneous resolution, commencing at age 10 in a 15-year-old boy with a history of hypochromic microcytic anemia attributed to a thalassemic trait. He was admitted twice to our university hospital for continuous-remittent fever with a pruritic, macular evanescent Still's skin rash, severe spl…

AdultMaleAdolescentFeverAnemiaHemoglobins AbnormalThalassemiaHepatosplenomegalybeta-Globinshemic and lymphatic diseasesmedicineHumansChildCytopeniabusiness.industryBeta thalassemiaAnemiaGeneral Medicinemedicine.diseaseHematologic DiseasesHypochromic microcytic anemiaHemoglobinopathyMutationImmunologymedicine.symptomSplenic diseasebusinessImmunocompetenceSpleenThe American Journal of the Medical Sciences
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Bone marrow biopsy in hemophagocytic syndrome.

2002

Abstract Aims. Hemophagocytic syndrome (HPS) is a severe and acute clinical event occurring with fever, hepatosplenomegaly, and pancytopenia due to uncontrolled phagocytosis of blood cells and precursors. Although HPS represents a secondary phenomenon, it can mask the underlying condition, generally a neoplastic or infective disease, thus making the patient management rather difficult. The aims of this study were to point out the main pathological features useful to highlight the primary disease and show the eventual discrepancies among the different cases. Methods and results. Bone-marrow biopsies (BMBs) of 26 patients with HPS were morphologically and immunophenotypically evaluated; the p…

AdultMalePathologymedicine.medical_specialtyAdolescentHistiocytosis Non-Langerhans-CellBiopsyT-LymphocytesHepatosplenomegalyPathology and Forensic MedicineBone MarrowBiopsymedicineBiomarkers TumorHumansMolecular BiologyHistiocyteAgedAged 80 and overmedicine.diagnostic_testbusiness.industryHistiocytesCell BiologyGeneral MedicineHyperplasiaMiddle Agedmedicine.diseasePancytopeniaImmunohistochemistryHistiocytosisLeukemiaVirus DiseasesHematologic NeoplasmsHemophagocytosismedicine.symptombusinessVirchows Archiv : an international journal of pathology
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Minilaparoscopy-guided spleen biopsy in systemic disease with splenomegaly of unknown origin.

2002

With the advent of a minimally invasive laparoscopy technique, the advantages of diagnostic laparoscopy are being rediscovered. We report here on four patients with systemic disease of unknown origin and splenomegaly, in whom minilaparoscopy-guided splenic biopsy yielded a definitive diagnosis. Four patients with unclear systemic disease were studied using diagnostic minilaparoscopy and guided spleen biopsy, after failure of diagnostic work-up. Minilaparoscopic spleen biopsy revealed the diagnosis of a B-cell non-Hodgkin's lymphoma in two cases. In one patient, who had a history of Still's disease, the spleen biopsy showed granulocytic infiltration in the spleen typical of an acute episode …

AdultMalePathologymedicine.medical_specialtySystemic diseaseAdolescentArgon plasma coagulationStill DiseaseSpleenBiopsyMedicineHumansMinimally Invasive Surgical ProceduresLaparoscopyFibrin glueUltrasonographyAcquired Immunodeficiency Syndromemedicine.diagnostic_testbusiness.industryLymphoma Non-HodgkinBiopsy NeedleGastroenterologyMiddle Agedmedicine.diseaseHodgkin DiseaseArthritis JuvenileLymphomamedicine.anatomical_structureSplenomegalyFemaleLaparoscopybusinessSpleenEndoscopy
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Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience

2007

This study reports the first evaluation of therapeutic response in Romanian patients with Gaucher disease type I, after therapy with Cerezyme recently became available in our country.24 patients (11-50 years) received Cerezyme 20-60 U/kg every two weeks for at least 18 months. Haemoglobin, platelet count, volume of the liver and spleen, plasma chitotriosidase and the severity score were assessed every 6 months; skeletal radiography and osteodensitometry were also monitored.Eleven patients were splenectomized before start of therapy. Eight patients had anaemia (mean haemoglobin 9.4 g/dl) and 14 patients, of whom 13 were without splenectomy, had thrombocytopenia (mean 65,692/mm3). Haemoglobin…

AdultMalecongenital hereditary and neonatal diseases and abnormalitiesmedicine.medical_specialtyPediatricsTime FactorsAdolescentBone diseasemedicine.medical_treatmentDiseaseWeight GainSeverity of Illness IndexHemoglobinsGeneticsmedicineHumansIn patientChildGenetics (clinical)ChemotherapyGaucher DiseasePlatelet CountRomaniabusiness.industryLiver DiseasesRomaniannutritional and metabolic diseasesAnemiaEnzyme replacement therapyMiddle Agedmedicine.diseaseCombined Modality TherapyThrombocytopeniaRecombinant Proteinslanguage.human_languageSurgeryHexosaminidasesTreatment OutcomeSplenomegalyQuality of LifeSplenectomylanguageGlucosylceramidaseFemaleBone DiseasesbusinessFollow-Up StudiesJournal of Inherited Metabolic Disease
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