scholarly journals Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

2021 ◽  
Vol 43 (1) ◽  
pp. 389-404
Author(s):  
Hiroki Maruyama ◽  
Atsumi Taguchi ◽  
Mariko Mikame ◽  
Atsushi Izawa ◽  
Naoki Morito ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Interim Analysis ◽  
Late Onset ◽  
Clinical Findings ◽  
Pathogenic Variant ◽  
Lamellar Bodies ◽  
Primary Screening ◽  
Japanese Cohort ◽  
Secondary Screening ◽  
Screening Marker

Fabry disease is an X-linked disorder of α-galactosidase A (GLA) deficiency. Our previous interim analysis (1 July 2014 to 31 December 2015) revealed plasma globotriaosylsphingosine as a promising primary screening biomarker for Fabry disease probands. Herein, we report the final results, including patients enrolled from 1 January to 31 December 2016 for evaluating the potential of plasma globotriaosylsphingosine and GLA activity as a combined screening marker. We screened 5691 patients (3439 males) referred from 237 Japanese specialty clinics based on clinical findings suggestive of Fabry disease using plasma globotriaosylsphingosine and GLA activity as primary screening markers, and GLA variant status as a secondary screening marker. Of the 14 males who tested positive in the globotriaosylsphingosine screen (≥2.0 ng/mL), 11 with low GLA activity (<4.0 nmol/h/mL) displayed GLA variants (four classic, seven late-onset) and one with normal GLA activity and no pathogenic variant displayed lamellar bodies in affected organs, indicating late-onset biopsy-proven Fabry disease. Of the 19 females who tested positive in the globotriaosylsphingosine screen, eight with low GLA activity displayed GLA variants (six classic, two late-onset) and five with normal GLA activity displayed a GLA variant (one classic) and no pathogenic variant (four late-onset biopsy-proven). The combination of plasma globotriaosylsphingosine and GLA activity can be a primary screening biomarker for classic, late-onset, and late-onset biopsy-proven Fabry disease probands.

Phenotypic target organ and biomarker variation within a family with late onset Fabry disease

2021 ◽  
Vol 132 (2) ◽  
pp. S27
Author(s):  
Jennifer Coker ◽  
Ashlee R. Stiles ◽  
Deeksha Bali ◽  
Sara P. Young ◽  
Marie T. McDonald ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Late Onset ◽  
Target Organ

Detection of intracellular lamellar bodies as a screening marker for fibrotic lesions

2021 ◽  
pp. 115501
Author(s):  
Eun-Jung Park ◽  
Min-Sung Kang ◽  
Hyun-Ji Lim ◽  
Tae Kyu Kang ◽  
Seung-Woo Jin ◽  
...  
Keyword(s):  
Lamellar Bodies ◽  
Screening Marker

Estimated effect of secondary screening for hip dislocation

2020 ◽  
Vol 105 (12) ◽  
pp. 1175-1179
Author(s):  
Daniel Wenger ◽  
Carl Johan Tiderius ◽  
Henrik Düppe
Keyword(s):  
Birth Cohort ◽  
Absolute Risk ◽  
Hip Dislocation ◽  
Absolute Risk Reduction ◽  
Age At Diagnosis ◽  
Hip Instability ◽  
Primary Screening ◽  
Surrogate Variable ◽  
Secondary Screening ◽  
Child Healthcare

ObjectivesTo quantify the effect of secondary screening for hip dislocations.DesignRetrospective analysis of hospital files from participants in a prospectively collected nationwide registry.SettingChild healthcare centres and orthopaedic departments in Sweden.ParticipantsOf 126 children with hip dislocation diagnosed later than 14 days age in the 2000–2009 birth cohort, 101 had complete data and were included in the study.InterventionsThe entire birth cohort was subject to clinical screening for hip instability at 6–8 weeks, 6 months and 10–12 months age. Children diagnosed through this screening were compared with children presenting due to symptoms, which was used as a surrogate variable representing a situation without secondary screening.Main outcome measuresAge at diagnosis and disease severity of late presenting hip dislocations.ResultsChildren diagnosed through secondary screening were 11 months younger (median: 47 weeks) compared with those presenting with symptoms (p<0.001). Children diagnosed through secondary screening had 11% risk of having a high (severe) dislocation, compared with 38% for those diagnosed due to symptoms; absolute risk reduction 27% (95% CI: 9.7% to 45%), relative risk 0.28 (95% CI: 0.11 to 0.70). Children presenting due to symptoms had OR 5.1 (95% CI: 1.7 to 15) of having a high dislocation, and OR 11 (95% CI: 4.1 to 31) of presenting at age 1 year or older, compared with the secondary screening group. The secondary screening was able to identify half of the children (55%, 95% CI: 45% to 66%) not diagnosed through primary screening.ConclusionsSecondary screening at child healthcare centres may have substantially lowered the age at diagnosis in half of all children with late presenting hip dislocation not diagnosed through primary screening, with the risk of having a high dislocation decreased almost to one-quarter in such cases.

scholarly journals Plasma globotriaosylsphingosine (lysoGb3) could be a biomarker for Fabry disease with a Chinese hotspot late-onset mutation (IVS4+919G>A)

2013 ◽  
Vol 426 ◽  
pp. 114-120 ◽  
Author(s):  
Hsuan-Chieh Liao ◽  
Yu-Hsiu Huang ◽  
Yann-Jang Chen ◽  
Shu-Min Kao ◽  
Hsiang-Yu Lin ◽  
...  
Keyword(s):  
Fabry Disease ◽  
Late Onset

Late onset left ventricular dysfunction and cardiomyopathy induced with ibrutinib

2019 ◽  
Vol 26 (2) ◽  
pp. 478-480 ◽  
Author(s):  
Sedanur K Gülsaran ◽  
Mehmet Baysal ◽  
Ufuk Demirci ◽  
Volkan Baş ◽  
Hakkı O Kirkizlar ◽  
...  
Keyword(s):  
Chronic Lymphocytic Leukemia ◽  
Left Ventricular Dysfunction ◽  
Ventricular Dysfunction ◽  
Late Onset ◽  
Chronic Lymphocytic Leukemia Patient ◽  
Clinical Findings ◽  
Left Ventricular ◽  
Lymphocytic Leukemia ◽  
Real World Data ◽  
Hodgkin's Lymphomas

Introduction Ibrutinib, an oral inhibitor of Bruton’s tyrosine kinase, has altered the treatment perspective of chronic lymphocytic leukemia and showed modest activity against several types of non-Hodgkin’s lymphomas. According to phase studies and real-world data, reported serious adverse effects included atrial fibrillation, diarrhea, and bleeding diathesis. However, heart failure was not reported to be a probable adverse effect linked with ibrutinib. Case report In this paper, we present a 66-year-old female chronic lymphocytic leukemia patient who developed significant and symptomatic left ventricular dysfunction at the 13th month of ibrutinib treatment. Management and outcome Following cessation of ibrutinib, ejection fraction and clinical findings of the left ventricular dysfunction alleviated. Discussion Although the use of ibrutinib is generally well tolerated, cardiac functions should be monitored occasionally in all patients.

Late-Onset Fabry Disease Presenting With Ventricular Tachycardia Originating From Typical Inferolateral Scar

2020 ◽  
Vol 36 (11) ◽  
pp. 1832.e1-1832.e4
Author(s):  
Giulia De Angelis ◽  
Zoi Tsoumani ◽  
Anna Reid ◽  
Gaetano Nucifora ◽  
Richard Bruce Irwin ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Fabry Disease ◽  
Late Onset

scholarly journals Plasma Globotriaosylsphingosine Level as a Primary Screening Target for Fabry Disease in Patients With Left Ventricular Hypertrophy

2019 ◽  
Vol 83 (9) ◽  
pp. 1901-1907 ◽  
Author(s):  
Satoshi Yamashita ◽  
Masao Saotome ◽  
Hiroshi Satoh ◽  
Jun Kajihara ◽  
Yusaku Mochizuki ◽  
...  
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Fabry Disease ◽  
Ventricular Hypertrophy ◽  
Left Ventricular ◽  
Primary Screening

First case of late onset cardiac phenotype Fabry disease due to an AluYb8 insertion in exon 7 of the GLA gene

2019 ◽  
Vol 20 (10) ◽  
pp. 1182-1182
Author(s):  
Constantin Gatterer ◽  
Dietrich Beitzke ◽  
Raute Sunder-Plassmann ◽  
Gere Sunder-Plassmann ◽  
Senta Graf
Keyword(s):  
Fabry Disease ◽  
Late Onset ◽  
Cardiac Phenotype ◽  
First Case ◽  
Gla Gene

scholarly journals Study of Antimicrobial Activity of Actinomycetes Isolates from Non-Medicinal Plants Produced Soil & Soil Surrounding Medicinal Plants in Junagadh, India

2019 ◽  
Vol 31 (6) ◽  
pp. 1207-1211
Author(s):  
RAM DARSHIT ◽  
DEVANG PANDYA
Keyword(s):  
Antimicrobial Activity ◽  
Medicinal Plants ◽  
Medicinal Plant ◽  
Soil Samples ◽  
Primary Screening ◽  
Secondary Screening ◽  
Plant Area

Isolation and screening of actinomycetes and compare its antimicrobial activity from non-medicinal plant produced soil with soil surrounding medicinal plant. In this study total 22 soil samples collected in two sets one from soil surrounding medicinal plant area of Junagadh and other not nearby medicinal plant of same region. Primary screening of isolate done using cross streak method with 8 test pathogens. Secondary screening of most potent 10 isolates equal from both sets by agar well diffusion. Thirty two isolate observed from soil samples of 11 places which were not nearby medicinal plants and 36 isolate observed from soil samples collected surrounding 11 different medicinal plants. (A)OS1, (A)OS3, (A)AI1, (A)TF1 and (A)RI1 were most potent isolates produced from soil surrounding medicinal plant compare to set 2. It was found set1 showed 72.22 % and set 2 showed 53.12 % activity.

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