Characterization of neuronopathic Gaucher disease among ethnic Poles

Tylki‐Szymańska, Anna; Keddache, Mehdi; Grabowski, Gregory A.

doi:10.1097/01.gim.0000196443.42899.25

Cited by 35 publications

(27 citation statements)

References 54 publications

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“…This study represents the largest cohort of patients with NGD in the Neurological Outcomes Subregistry (n=131) presented in the literature to date. Previous reports (Dreborg et al 1980;Erikson 1986) have focused on smaller numbers of patients (n=22; Dreborg et al 1980;Erikson 1986) from individual countries such as Japan , Poland (Tylki-Szymańska et al 2006), or China (Choy et al 2007). In our report the proportions of patients from Egypt (31%) and Sweden (11%) suggest that the prevalence of NGD might be higher in these countries; although, due to the voluntary nature of submitting data to the Registry, this might be a reporting artifact.…”

Section: Discussionmentioning

confidence: 95%

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Tylki‐Szymańska

Vellodi

El‐Beshlawy

et al. 2010

J of Inher Metab Disea

119

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Section: Discussionmentioning

confidence: 95%

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Tylki‐Szymańska

Vellodi

El‐Beshlawy

et al. 2010

J of Inher Metab Disea

119

View full text Add to dashboard Cite

show abstract

“…The type 1 form is the most common among Caucasian patients but has a strong presence in the Ashkenazi Jewish population. In contrast, there is a high frequency of type 3 in Norrbotten, Northern Sweden, in Norrbotten [2]. Most Chinese GD patients have an early age of onset, severe hematological and skeletal complications, and frequent neurological involvement, resulting in early childhood death [3].…”

Section: Introductionmentioning

confidence: 99%

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Giraldo

Alfonso

Irún

et al. 2012

Orphanet J Rare Dis

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BackgroundGaucher disease (GD) is due to deficiency of the glucocerebrosidase enzyme. It is panethnic, but its presentation reveals ethnicity-specific characteristics.MethodsWe evaluated the distribution, and clinical and genetic characteristics of GD patients in the Iberian Peninsula (IP). We analysed geographical distribution, demographic, genetic and clinical data, age at diagnosis, type, and years of therapy in 436 GD patients from the IP.ResultsThe prevalence of GD was 1/149,000 inhabitants; 88.3% were type 1, 6.7% type 2, and 5.0% type 3. The mean age at diagnosis in type 1 was 28.7 years. A total of 72.7% were classified as having mild forms, 25.5% moderate, and 1.7% severe. Anemia and thrombocytopenia were present in 56% and 55%, respectively. Bone disease and hepatomegaly were reported in 62% and 68%, respectively, and were more likely in asplenic than in non-splenectomized patients. Sixty-nine mutant alleles were identified, and five mutations accounted for 75% of the GBA alleles. Several patients described in our series had interesting phenotypes. A total of 58.7% of patients had received enzyme replacement therapy and 12.6% were treated with miglustat.ConclusionsA broad spectrum of GBA mutations is present in the IP, with 98.2% of type 1 GD being mild and 23.0% never treated. These data highlight genetic and phenotypic heterogeneities among geographic populations.

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“…One approach to address this issue has been through the employment of simulation data 72 , which is informative as to the robustness of predictive models for discrimination between individuals at high risk for development of complications following radiotherapy and those at low risk 73 . Several conclusions were obtained from these simulation experiments, including; (1) Inclusion of SNPs present in the genome with a high risk allele frequency and larger effect size enhances the accuracy of the model, (2) Increasing the number of SNPs included in a risk model improves the discrimination accuracy as quantitated through use of the area under the curve (AUC) for a receiver-operating characteristic curve and (3) High AUC values can be achieved through use of 50–100 common risk SNPs with effect sizes of 1.05–1.5.…”

Section: Model Developmentmentioning

confidence: 99%

Radiogenomics: Identification of Genomic Predictors for Radiation Toxicity

Rosenstein

2017

Seminars in Radiation Oncology

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The overall goal of radiogenomics is the identification of genomic markers that are predictive for the development of adverse effects resulting from cancer treatment with radiation. The principal rationale for a focus on toxicity in radiogenomics is that for many patients treated with radiation, especially individuals diagnosed with early stage cancers, the survival rates are high and therefore a substantial number of people will live for a significant period of time beyond treatment. However, many of these patients could suffer from debilitating complications resulting from radiotherapy. Work in radiogenomics has greatly benefited from creation of the Radiogenomics Consortium (RGC), which includes investigators at multiple institutions located in a variety of countries. The common goal of the RGC membership is to share biospecimens and data so as to achieve large scale studies with increased statistical power to enable identification of relevant genomic markers. A principal aim of research in radiogenomics is the development of a predictive instrument to enable identification of people who are at greatest risk for adverse effects resulting from cancer treatment using radiation. It is anticipated that creation of a predictive assay characterized by a high level of sensitivity and specificity will improve precision radiotherapy and assist patients and their physicians to select the optimal treatment for each individual.

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Characterization of neuronopathic Gaucher disease among ethnic Poles

Cited by 35 publications

References 54 publications

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Neuronopathic Gaucher disease: demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

Radiogenomics: Identification of Genomic Predictors for Radiation Toxicity

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