Gaucher′s disease

Bohra, Vijay; Nair, Velu

doi:10.4103/2230-8210.83402

Cited by 21 publications

(12 citation statements)

References 27 publications

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“…types II and III that is followed by involvement of nervous system. Several studies have reported [7]. Deposition of Gaucher cells results in fibrosis and pressure on vessels, and finally will cause dilation and increasing pressure on the portal vein in a patient [8].…”

Section: Discussionmentioning

confidence: 99%

“…Gaucher disease is usually associated with demonstration of pseudo-Gaucher cells in bone marrow [1]. The activity of Glucocerebrosidase enzyme is the best criteria for detecting GD in all its types [7]. Several authors emphasize this point that there is no relationship between the remaining activity of acid beta-glucosidase enzyme and clinical intensity and severity or type of GD [9].…”

Section: Discussionmentioning

confidence: 99%

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Foot Involvement - A Presenting Feature for Gaucher Disease, A Case Report

Shahverdi¹,

Khani²,

Beiraghdar³

et al. 2016

Foc Sci

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Introduction: Gaucher disease is one of recessive autosomal diseases, wide range of childhood diseases to the absence of symptoms throughout its life. That three types of is more common than other types, that comprises a wide range of clinical findings in childhood and may be seen in different parts of the body but Long bone involvement is common in Gaucher disease. Case Presentation: In this paper, 11-month-old baby girl suddenly lost the ability to walk and her loss of appetite, night sweats, severe irritability and weight reduction, Her parents were healthy and there was not a history of any special disease in both families and She hasn't had a history of previous hospitalization, so using different tests and biopsies the Gaucher disease was diagnosed. Conclusions: Careful consideration of signs and symptoms and medical history, with a thorough review of systems, is important when evaluating patients with lysosomal storage disorders. Signs such as splenomegaly, anemia, thrombocytopenia and developmental delay can be signs of Gaucher disease, so the presence of these signs should be investigated.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Foot Involvement - A Presenting Feature for Gaucher Disease, A Case Report

Shahverdi¹,

Khani²,

Beiraghdar³

et al. 2016

Foc Sci

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“…It is associated with debilitating visceral, haematological and skeletal manifestations characterized by liver and/or spleen enlargement, anaemia, fatigue, thrombocytopenia leading to easy bruising and bleeding episodes, and debilitating bone pain and bone fractures [ 5 ]. The two more severe forms of Gaucher disease, type 2 which manifests in early infancy and type 3 which manifests in early childhood, are associated in addition with overt neurological symptoms [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

A health state utility valuation study to assess the impact of treatment mode of administration in Gaucher disease

Hadi¹,

Swinburn

Nalysnyk

et al. 2018

Orphanet J Rare Dis

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BackgroundThis study aimed to obtain UK societal-based utility values for health states related to treatment mode of administration using Gaucher disease as the background condition.MethodsA review of relevant literature and expert clinical input informed the development of five health states characterising the impact of Gaucher disease and its management on patients’ lives. A base-state characterising the “controlled disease” was developed as well as four subsequent health states which varied in description of the method (intravenous versus oral) and frequency of treatment administration. Health state utilities were obtained using the time trade-off (TTO) method via face-to-face interviews with 100 members from the UK general population. Before the valuation exercise, participants provided informed consent, completed a demographic form and the EQ-5D, and ranked the health states from best to worst on a 0–100 visual analogue scale (VAS).ResultsMean age of the participants (n = 100) was 35 years and 66% were female. Participants reported high EQ-5D VAS (86.1) and index scores (0.95) indicating very good health status. The “controlled disease” state had the highest mean TTO-derived utility value (0.89). There was only a marginal reduction in utility for the generic state for “Oral treatment” (0.85), while the reduction was more pronounced for the generic state for “Intravenous treatment” (0.73).ConclusionsThe findings suggest that the avoidance of the need for intravenous treatment administration is associated with a notable positive increase in health-related quality of life. Patient benefit arising from less invasive treatment could be an important consideration when undertaking economic evaluation of future therapies for Gaucher disease.Electronic supplementary materialThe online version of this article (10.1186/s13023-018-0903-6) contains supplementary material, which is available to authorized users.

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“…Es la enfermedad más frecuente del grupo de las enfermedades de depósito lisosomal comprendidas dentro de los errores innatos del metabolismo (1). La enfermedad de Gaucher se debe a mutaciones en el gen responsable de la síntesis de la enzima lisosomal b-glucocerebrosidasa ácida, también llamada ß-Glucosidasa ácida, (o ß-GA), cuyos locus se ubica en 1q21, es decir en la banda uno de la región 2 del brazo largo del cromosoma 1.…”

Section: Introductionunclassified