scholarly journals Fabry Disease: Incidence of the Common Later-Onset α-Galactosidase A IVS4+919G→A Mutation in Taiwanese Newborns—Superiority of DNA-Based to Enzyme-Based Newborn Screening for Common Mutations

2012 ◽  
Vol 18 (5) ◽  
pp. 780-784 ◽  
Author(s):  
Yin-Hsiu Chien ◽  
Ni-Chung Lee ◽  
Shu-Chuan Chiang ◽  
Robert J. Desnick ◽  
Wuh-Liang Hwu
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
Disease Incidence ◽  
The Common

Some Issues of Morbidity with Temporary Incapacity for Work in the Ural Federal District

2021 ◽  
pp. 37-44
Author(s):  
AS Shastin ◽  
VG Gazimova ◽  
OL Malykh ◽  
TS Ustyugova ◽  
TM Tsepilova
Keyword(s):  
Public Health ◽  
Russian Federation ◽  
Disease Incidence ◽  
Federal District ◽  
Incidence Rates ◽  
Statistical Information ◽  
Working Age ◽  
The Russian Federation ◽  
The Common ◽  
Working Age Population

Introduction: In the context of a decreasing size of the working-age population, monitoring of the health status and disease incidence in this cohort shall be one of the most important tasks of public and occupational health professionals. Health risk management for the working population in the Russian Federation requires complete and reliable data on its morbidity, especially in view of the fact that its average age demonstrates a stable growth. It is, therefore, crucial to have precise and consistent information about the morbidity of the working-age population. Objective: The study aimed to assess incidence rates of diseases with temporary incapacity for work in the constituent entities of the Ural Federal District of the Russian Federation. Materials and methods: We reviewed data on disease incidence rates published by the Federal State Statistics Service in the Common Interdepartmental System of Statistical Information, Section 15.12, Causes of Temporary Disability, and Section 2.9.I.4, Federal Project for Public Health Promotion. The constituent entities under study were ranked according to the number of cases and days of temporary incapacity per 100 workers and E.L. Notkin scale was used to determine grade the incidence. The statistical analysis was performed using STATISTICA 10 software. Long-term average values of certain indicators, median values, standard deviation (σ) and coefficients of variation were estimated. The difference in the indices was assessed using the Mann-Whitney test. Results: Compared to 2010, incidence rates of diseases with temporary incapacity for work in the constituent entities of the Ural Federal District in 2019 demonstrated a significant decline. The sharp drop was observed in 2015. We also established that the Common Interdepartmental System of Statistical Information contains contradictory information on disease incidence. Conclusion: It is expedient to consider the issue of revising guidelines for organization of federal statistical monitoring of morbidity with temporary incapacity for work and to include this indicator in the system of public health monitoring.

scholarly journals Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

2018 ◽  
Vol 123 (2) ◽  
pp. S21
Author(s):  
Stephanie Austin ◽  
Mugdha Rairikar ◽  
Laura Case ◽  
Lauren Bailey ◽  
Zoheb Kazi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
The Common ◽  
C 32 ◽  
Insight Into

scholarly journals Newborn screening for Fabry disease in the western region of Japan

2020 ◽  
Vol 22 ◽  
pp. 100562 ◽  
Author(s):  
Takaaki Sawada ◽  
Jun Kido ◽  
Shinichiro Yoshida ◽  
Keishin Sugawara ◽  
Ken Momosaki ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
Western Region ◽  
The Western Region

Lysosomal Newborn Screening in a Cohort in Mexican Population-

Blood ◽  
2015 ◽  
Vol 126 (23) ◽  
pp. 5581-5581
Author(s):  
Juana Ines Navarrete
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Fabry Disease ◽  
Pompe Disease ◽  
Neonatal Screening ◽  
Inborn Errors Of Metabolism ◽  
Lysosomal Storage Diseases ◽  
Lysosomal Storage ◽  
Inborn Errors ◽  
Storage Diseases

Abstract INTRODUCTION: The goal of newborn screening is an early detection of inborn erros of metabolism diseases. In Mexico we began newborn screening since 1977 with very few inborn errors of metabolism such as phenylketonuria, galactosemia, congenital hypothyroidism, sickle cell anemia and cytic fibrosis (1). Since that date we have been increasing our newborn screening our newborn screening slowly and now a days we screen in most states of the country 15 inborn errors of metabolism(2). In 2012 we started with some patients through out the country a wider neonatal screening that include 5 lysosomal storage diseases. MATERIAL AND METHODS: Petróleos Mexicanos is a big governmental institution with approximately 10,000 workers and their families. Since 2005 a larger newborn screening has been done to all newborns in this institution through all the country. We test for most aminoacidopathies, including acidurias, hemoglobinopathies, G6PD deficiency, adrenal hyperplasia, cystic fibrosis and biotinidase deficiency; since August 2012 we included 6 lysosomal storage diseases; Gaucher disease, Fabry disease, Hurler disease, Pompe disease, Niemann-Pick type A and B disease and Krabbe disease. RESULTS: Up to date we have screened 10,853 newborns, we have found 9 patients with lysosomal storage diseases. We found 4 newborns with mutations for Fabry disease, 4 newborns with Pompe disease, three were pseudodeficiencies and one was combined heterozygous for a late onset presentation and pseudodeficiencies and 1 patient with Hurler disease (Table 2). We present here our clinical correlation between genotype-phenotype in these patients. We found a frequency in our population of 1 in 2713 newborns for both Fabry and Pompe disease. DISCUSSION: Newborn screening is a major public health achievement that has improve the morbidity and mortality of inborn errors of metabolism. The introduction of newborn screening for lysosomal storage diseases presents new challenges. This is the first latinamerican study of early detection of lysosomal storage diseases made by neonatal screening there are about 11 similar international studies. It is important point out that the most common lysosomal storage disease found in our study was Pompe diseases the pseudodeficiency type and Fabry disease type II with a frequency of 1 in 2713 newborns for both diseases. Spada et al; and Hwu et al; have reported frequencies of 1 in 1250 to 3100 male newborns. The mutation most commonly found was c.1088G>A, (p.R363H) for Fabry disease and c.1726G>A(p.G576S) for Pompe disease. References: 1. Nakamura K, Am J Med Genet Part C, 2011; 157, 63-71. 2. Zhou et al, J. Pediatr 2011 159 1 7-13. 3. Alterescu GM, Clin. Genet 2001:60:46-51. 2001. 4. Desnick R. J.: Enzyme Replacement Therapy and Enhancement therapies for Lysosomal Storage Diseases. J. Inher Metab Dis 2004; 27:385-4013. Disclosures No relevant conflicts of interest to declare.

scholarly journals High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

2009 ◽  
Vol 2 (5) ◽  
pp. 450-456 ◽  
Author(s):  
Hsiang-Yu Lin ◽  
Kah-Wai Chong ◽  
Ju-Hui Hsu ◽  
Hsiao-Chi Yu ◽  
Chun-Che Shih ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Fabry Disease ◽  
Chinese Population ◽  
High Incidence ◽  
Taiwan Chinese

Fabry disease: Review and experience during newborn screening

2018 ◽  
Vol 28 (4) ◽  
pp. 274-281 ◽  
Author(s):  
Ting-Rong Hsu ◽  
Dau-Ming Niu
Keyword(s):  
Newborn Screening ◽  
Fabry Disease

scholarly journals Susceptibility of novel Italian rice varieties to panicle blast under field conditions

2020 ◽  
Author(s):  
Gabriele Mongiano ◽  
Patrizia Titone ◽  
Simone Bregaglio ◽  
Luigi Tamborini
Keyword(s):  
Plant Protection ◽  
Stem Elongation ◽  
Disease Incidence ◽  
Public Institutions ◽  
Field Conditions ◽  
Rice Varieties ◽  
Panicle Blast ◽  
Protection Strategies ◽  
The Common ◽  
Visual Assessments

AbstractA panel of 48 of Italian rice varieties recently included in the Common Catalogue of Agricultural Species was evaluated for susceptibility to rice blast (Magnaporthe oryzae B. Couch) in open field conditions. Trials were performed under highly favourable conditions for the pathogen, and visual assessments focused on the severity and incidence of panicle blast symptoms. Only 8% of newly released varieties were classified as resistant, whereas 40% were highly susceptible. Our results confirmed that a fungicide treatment with tricyclazole reduces the disease incidence and severity and that the effect is measurable up to six weeks after treatment. A double application of tricyclazole at stem elongation and booting stage was more effective than the single application at booting. This study provides ready-to-use information to support rice growers in variety choice and planning of plant protection strategies, as well as public institutions in the emanation of guidelines for integrated pest management.

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