scholarly journals Mucopolysaccharidosis Type I Disease Prevalence among Idiopathic Short Stature Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study (Preprint)

2021 ◽  
Author(s):  
Danyah Alsafadi ◽  
Aly Ezzat ◽  
Fatima Altamimi ◽  
Marwan ElBagoury ◽  
Mohammed Olfat ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Newborn Screening ◽  
Short Stature ◽  
Screening Program ◽  
Idiopathic Short Stature ◽  
Accurate Estimation ◽  
Type I ◽  
Newborn Screening Program ◽  
Multicenter Studies ◽  
Cross Sectional

UNSTRUCTURED Background: Since the underlying cause of an idiopathic short stature, could be indeed an undiagnosed MPS type I patient, it will be critical to identify MPS type I patients amongst screened patients with idiopathic short stature. Therefore, the primary objective of this study is to determine the prevalence of MPS type I disease in the high-risk group (patients with idiopathic short stature). Methods: We planned to perform a multicenter, cross-sectional, screening study to primarily assess the prevalence of MPS type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents/guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. A total of 800 patients was required for this study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. To date, there are no reliable data regarding the incidence or prevalence of MPS type I in Saudi Arabia, and future multicenter studies are needed. Besides, the prevalence of an attenuated form of MPS type I is largely underestimated in Saudi Arabia due to the absence of an effective newborn screening program. Therefore, the implementation of a nationwide newborn screening program is essential for accurate estimation of the burden of MPS and early diagnosis of the patients.

scholarly journals Clinical relevant polymorphisms affecting clopidogrel pharmacokinetics and pharmacodynamics: Insights from the Puerto Rico Newborn Screening Program

2018 ◽  
Author(s):  
Dagmar Fredy Hernandez-Suarez ◽  
Jonnalie Tomassini-Fernandini ◽  
Angelica Cuevas ◽  
Anyelis Rosario-Berrios ◽  
Héctor Nuñez-Medina ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Puerto Ricans ◽  
African Ancestry ◽  
Population Based ◽  
Genome Project ◽  
Newborn Screening Program ◽  
Cross Sectional ◽  
Population Based Study ◽  
Hardy Weinberg Equilibrium

Background: Variations in several clopidogrel-pharmacogenes have been linked to clopidogrel response variability and clinical outcomes. We aimed to determine the frequency distribution of major polymorphisms on CYP2C19, PON1, ABCB1 and P2RY12 pharmacogenes in Puerto Ricans. Methods: This was a cross-sectional, population-based study of 200 unrelated “Guthrie” cards specimens from newborns registered in the Puerto Rican Newborn Screening program (PRNSP) between 2004 and 2014. Taqman® SNP assay techniques were used for genotyping. Results: Minor Allele Frequencies (MAF) were 46% for PON1 (rs662), 41% for ABCB1 (rs1045642), 14% for CYP2C19*17, 13% for CYP2C19*2, 12% for P2RY12-H2 and 0.3% for CYP2C19*4. No carriers of the CYP2C19*3 variants were detected. All alleles and genotype proportions were found to be in Hardy-Weinberg equilibrium (HWE). Overall, there were no significant differences between MAFs of these variants in Puerto Ricans and the general population (n=453) of the 1,000 Genome project, except for the Yoruba in Ibadan from Nigeria (YRI, West-African ancestry; p<0.05). As expected, the prevalence of these markers in Puerto Ricans most resembled those in the 181 subjects from reference populations of the Americas. Conclusions: These prevalence data provide a necessary groundwork for future clinical studies of clopidogrel pharmacogenetics in Caribbean Hispanics.

scholarly journals Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences

2020 ◽  
Vol 6 (2) ◽  
pp. 35 ◽  
Author(s):  
Yvonne Kellar-Guenther ◽  
Sarah McKasson ◽  
Kshea Hale ◽  
Sikha Singh ◽  
Marci K. Sontag ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Survival Curve ◽  
Type I ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program ◽  
Mps I ◽  
Insight Into

Data were collected from 39 newborn screening (NBS) programs to provide insight into the time and factors required for implementing statewide screening for Pompe, Mucopolysaccharidosis type I (MPS I), adrenoleukodystrophy (ALD), and Spinal Muscular Atrophy (SMA). Newborn screening program readiness to screen statewide for a condition was assessed using four phases: (1) approval to screen; (2) laboratory, follow-up, and information technology capabilities; (3) education; and (4) implementation of statewide newborn screening. Seventeen states (43.6%) reached statewide implementation for at least one new disorder. Those states reported that it took 28 months to implement statewide screening for Pompe and MPS I, 30.5 months for ALD, and 20 months for SMA. Using survival curve analysis to account for states still in progress, the estimated median time to statewide screening increased to 75 months for Pompe and 66 months for MPS I. When looking at how long each readiness component took to complete, laboratory readiness was one of the lengthier processes, taking about 39 months. Collaboration with other NBS programs and hiring were the most frequently mentioned facilitators to implementing newborn screening. Staffing or inability to hire both laboratory and follow-up staff was the most frequently mentioned barrier.

scholarly journals A pilot newborn screening program for Mucopolysaccharidosis type I in Taiwan

2013 ◽  
Vol 8 (1) ◽  
pp. 147 ◽  
Author(s):  
Shuan-Pei Lin ◽  
Hsiang-Yu Lin ◽  
Tuen-Jen Wang ◽  
Chia-Ying Chang ◽  
Chia-Hui Lin ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Newborn Screening Program

scholarly journals The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program

2009 ◽  
Vol 23 (23) ◽  
pp. 3891-3893 ◽  
Author(s):  
Giancarlo la Marca ◽  
Sabrina Malvagia ◽  
Silvia Funghini ◽  
Elisabetta Pasquini ◽  
Gloriano Moneti ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Type I ◽  
Newborn Screening Program ◽  
Tyrosinemia Type I

Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders

2017 ◽  
Vol 53 (6) ◽  
pp. 585-591 ◽  
Author(s):  
Majid Alfadhel ◽  
Ali Al Othaim ◽  
Saif Al Saif ◽  
Fuad Al Mutairi ◽  
Moeenaldeen Alsayed ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Newborn Screening ◽  
Screening Program ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening

scholarly journals Patterns of infections and antimicrobial drugs’ prescribing among pregnant women in Saudi Arabia: a cross sectional study

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Mohamed A. Baraka ◽  
Lina Hussain AlLehaibi ◽  
Hind Nasser AlSuwaidan ◽  
Duaa Alsulaiman ◽  
Md. Ashraful Islam ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Pregnant Women ◽  
Antimicrobial Agents ◽  
Cross Sectional Study ◽  
Maternal Complications ◽  
Multicenter Studies ◽  
Antimicrobial Drugs ◽  
Cross Sectional ◽  
Categorization System ◽  
Tract Infections

Abstract Background Antimicrobial agents are among the most commonly prescribed drugs in pregnancy due to the increased susceptibility to infections during pregnancy. Antimicrobials can contribute to different maternal complications. Therefore, it is important to study their patterns in prescription and utilization. The data regarding this issue is scarce in Saudi Arabia. Therefore, the aim of this study is to generate data on the antimicrobial agents that are most commonly prescribed during pregnancy as well as their indications and safety. Methods This is a retrospective study focusing on pregnant women with a known antimicrobial use at Johns Hopkins Aramco Healthcare (JHAH). The sample included 344 pregnant women with a total of 688 antimicrobial agents prescribed. Data was collected on the proportion of pregnant women who received antimicrobial agents and on the drug safety during pregnancy using the risk categorization system of the U.S. Food and Drug Administration (FDA). Results The results showed that urinary tract infections (UTIs) were the most reported (59%) infectious diseases. Around 48% of pregnant women received antimicrobial medications at some point during pregnancy. The top two antimicrobial agents based on prescription frequency were B-lactams (44.6%) and azole anti-fungals (30%). The prescribed drugs in the study were found to be from classes B, C and D under the FDA risk classification system. Conclusion The study revealed a high proportion of antimicrobials prescribed during pregnancy that might pose risks to mothers and their fetuses. Future multicenter studies are warranted to evaluate the rational prescription of antimicrobial medications during pregnancy.

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