Gaucher Disease type 1 mimicking immune thrombocytopenia: Role of hyperferritinemia and hypergammaglobulinemia in the initial evaluation of an isolated thrombopenia.

CONCLUSION: Gaucher disease type 1 can be responsible for apparently isolated thrombocytopenia. The disease must be looked for if the thrombocytopenia is associated with unexplained hypergammaglobulinemia or hyperferritinemia. Diagnosing immune thrombocytopenia without bone marrow sample requires to systematically pay attention to any clinical or biological abnormality, not to ignore rare differential diagnoses. PMID: 31213336 [PubMed - as supplied by publisher]
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research

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ConclusionsThe rate of helminthic co-infection is predominantly high than that of intestinal protozoa. Single parasitic co-infection was more common than double or multiple co-infections. Both body mass index and mid-upper arm circumference anthropometric parameters revealed greater risk of undernutrition in tuberculosis patients. Thus, screening and prompt treatment of parasites in tuberculosis patients and a support of nutritional supplementation for malnourished tuberculosis patients should be further studied which might enhance the disease treatment and minimize the risk of its complexity.
Source: Infectious Diseases of Poverty - Category: Infectious Diseases Source Type: research
Conclusions: It seems that the colonisation of the lesioned skin, healthy skin and the anterior nares by S. aureus is related with higher tIgE serum concentration, which translates to more severe course of the disease. Significantly increased SEA-IgE and SEB-IgE concentrations were observed in the patients whose tIgE serum concentration was statistically higher. PMID: 31616226 [PubMed]
Source: Advances in Dermatology and Allergology - Category: Dermatology Tags: Postepy Dermatol Alergol Source Type: research
National Institutes of Health has awarded a research team from Yale and other universities $7.8 million to establish a rare disease network called MGNet.
Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news
CONCLUSION: These updated guidelines will contribute to increase the level of urological care for diagnosis and treatment of UTUC. PMID: 31610873 [PubMed - in process]
Source: Progres en Urologie - Category: Urology & Nephrology Tags: Prog Urol Source Type: research
This study aims to describe some epidemiological, clinical and anatomopathological aspects of patients with hantavirus who presented poor outcome and were autopsied in a teaching hospital in Brazil, from 2000 to 2014. Of the 10 patients included, nine were male (mean age 43.5 years) and seven reported previous contact with rodents. Fever was present in eight of ten patients, dyspnea in nine of ten and myalgia in seven of ten patients; hemoconcentration, leukocytosis, thrombocytopenia and renal involvement were evidenced in all the 10 cases. At autopsy, the main alterations were seen in the lungs: pleural effusion (8/10 cas...
Source: Revista do Instituto de Medicina Tropical de Sao Paulo - Category: Tropical Medicine Authors: Tags: Rev Inst Med Trop Sao Paulo Source Type: research
Authors: Mathabire Rucker SC, Cossa L, Harrison RE, Mpunga J, Lobo S, Kisaka Kimupelenge P, Mandar Kol'Ampwe F, Amoros Quiles I, Molfino L, Szumilin E, Telnov O, Ndlovu Z, Huerga H Abstract Background: Determine TB-LAM is a urine-based point-of-care assay for diagnosis of tuberculosis (TB). Objective: To assess the feasibility of using LAM to diagnose TB in adult HIV-positive patients in resource-limited settings. Methods: We performed a multi-centric mixed-methods cross-sectional descriptive study in the Democratic Republic of Congo, Malawi, and Mozambique. We used the study and program monitoring tools to estimat...
Source: Global Health Action - Category: International Medicine & Public Health Tags: Glob Health Action Source Type: research
Authors: Xu M, Luo L, Du M, Tang L, Hu Y, Mei H Abstract Bleeding is the most common clinical symptom and the leading cause of death in patients with primary immune thrombocytopenia (ITP). Our research intends to verify the role of fibrinogen levels as independent determinants of bleeding. We retrospectively analyzed the relationship between fibrinogen levels and bleeding events in 463 patients. Additionally, we confirmed the impact of fibrinogen level on clot firmness in 25 patients via thrombelastography (TEG). Fibrinogen levels (median and inter-quartile range, IQR) were significantly different (p
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research
Conclusion]We deeply indicate that the combination of enzyme replacement therapy and azacitidine therapy is useful for cases of MDS/s-AML associated with Gaucher disease. There is a possibility that the reduction of the enzyme is involved not only in Gaucher disease but in the ontogeny of blood diseases such as MDS. The effects of enzyme replacement therapy of Gaucher's disease for MDS/s-AML should be discussed.DisclosuresNo relevant conflicts of interest to declare.
Source: Blood - Category: Hematology Authors: Tags: 613. Acute Myeloid Leukemia: Clinical Studies Source Type: research
Authors: Demirci U, Çizmecioglu A, Aydogdu I Abstract 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 deformiti...
Source: Clinical Cases in Mineral and Bone Metabolism - Category: Orthopaedics Tags: Clin Cases Miner Bone Metab Source Type: research
Publication date: Available online 24 July 2017 Source:Acta Haematologica Polonica Author(s): Egle Sumskiene, Maciej Machaczka Rare diseases are a diagnostic challenge for modern medicine. Gaucher disease is a rare autosomal recessive lipid storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase. In the absence of known affected family member, frequent symptoms of Gaucher disease, such as thrombocytopenia or splenomegaly, often lead to hematological diagnostic workup. This review highlights pathophysiology, signs and symptoms, diagnostic and therapeutic principles of Gaucher disease. D...
Source: Acta Haematologica Polonica - Category: Hematology Source Type: research
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