scholarly journals Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience

2021 ◽  
Vol 7 (3) ◽  
pp. 56
Author(s):  
Hind Alsharhan ◽  
Amir A. Ahmed ◽  
Naser M. Ali ◽  
Ahmad Alahmad ◽  
Buthaina Albash ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Arabian Gulf ◽  
High Rate ◽  
Blood Levels ◽  
Molecular Testing ◽  
Pathogenic Variants ◽  
Wide Range ◽  
Arabian Gulf Country ◽  
Gulf Country

Kuwait is a small Arabian Gulf country with a high rate of consanguinity and where a national newborn screening program was expanded in October 2014 to include a wide range of endocrine and metabolic disorders. A retrospective study conducted between January 2015 and December 2020 revealed a total of 304,086 newborns have been screened in Kuwait. Six newborns were diagnosed with classic homocystinuria with an incidence of 1:50,000, which is not as high as in Qatar but higher than the global incidence. Molecular testing for five of them has revealed three previously reported pathogenic variants in the CBS gene, c.969G>A, p.(Trp323Ter); c.982G>A, p.(Asp328Asn); and the Qatari founder variant c.1006C>T, p.(Arg336Cys). This is the first study to review the screening of newborns in Kuwait for classic homocystinuria, starting with the detection of elevated blood methionine and providing a follow-up strategy for positive results, including plasma total homocysteine and amino acid analyses. Further, we have demonstrated an increase in the specificity of the current newborn screening test for classic homocystinuria by including the methionine to phenylalanine ratio along with the elevated methionine blood levels in first-tier testing. Here, we provide evidence that the newborn screening in Kuwait has led to the early detection of classic homocystinuria cases and enabled the affected individuals to lead active and productive lives.

scholarly journals Clinical, Biochemical and Molecular Profile of Variant Galactosemia in Children Detected by National Newborn Screening: A Pilot Study

2017 ◽  
Vol 51 (3) ◽  
Author(s):  
Sylvia Capistrano-Estrada ◽  
Daffodil M. Canson ◽  
Catherine Lynn T. Silao
Keyword(s):  
Newborn Screening ◽  
Screening Program ◽  
Molecular Profile ◽  
Molecular Characteristics ◽  
Molecular Testing ◽  
Variant Form ◽  
Limited Information ◽  
Coding Region ◽  
Total Blood ◽  
Galt Activity

Objective. The observed irregularities in the biochemical profile and the limited information on long-term outcomes among patients with Duarte variant (D/G) galactosemia have led to patient management variability. This study examined the molecular characteristics of Filipino patients with presumed variant galactosemia for confirmation of diagnosis. It also aimed to describe the corresponding biochemical, clinical and neurodevelopmental profiles in order to gain a better understanding of the patients with normal galactose metabolites in spite of low to absent GALT activity detected by the local newborn screening program. Methods. Thirteen (13) patients who were presumed to have a variant form of galactosemia by national newborn screening between 2002 and 2010, and who previously underwent physical and neurodevelopmental assessment were included in the study. Repeat clinical, ophthalmologic and neurodevelopmental evaluations were done upon recruitment of participants. Direct sequence analysis of the coding region of the GALT gene was conducted to determine the patients’ genotypes. Results. None of the patients’ genotypes were consistent with Duarte variant (D/G) galactosemia. Their genotypes reflect the normal total blood galactose levels in patients, but were inconsistent with the absent or trace GALT activity. Conclusion. Molecular testing for the entire cohort of presumed “variant” galactosemia Filipino patients will provide better profiling of this condition. Re-evaluation and assessment of the current guidelines used by national newborn screening in classifying variant galactosemia are recommended.

scholarly journals Child sexual abuse data from an Arabian Gulf country revisited

2013 ◽  
Vol 10 (4) ◽  
pp. 84-86 ◽  
Author(s):  
Jude U. Ohaeri ◽  
Ghenaim A. Al-Fayez
Keyword(s):  
Sexual Abuse ◽  
High School Students ◽  
Child Sexual Abuse ◽  
Psychosocial Functioning ◽  
Extended Family ◽  
Arabian Gulf ◽  
School Students ◽  
Female Victims ◽  
Arabian Gulf Country ◽  
Gulf Country

We revisit our previous work on child abuse in Kuwait, with a focus on the sexual abuse data, and discuss the findings in the context of the local culture. In 2006, a nationwide sample of 4467 senior high-school students (mean age 16.9; 48.6% boys) at government secondary schools was studied. Over their lifetime, 8.6% had been sexually attacked, 5.9% had experienced someone threatening to have sex with them, 15.3% had experienced unwanted sexual exposure, and 17.4% had had someone touch their sexual parts (boys 21.1%, girls 14.0%; P < 0.001). Most perpetrators were members of the extended family. The way to assist ‘dysfunctional families’, where ‘family honour’ and the need for peaceful relations with neighbours have priority over the mental health of female victims, is to propagate the finding that child sexual abuse has a wide-ranging deleterious impact on psychosocial functioning.

scholarly journals Newborn Screening for Cystic Fibrosis by Use of a Multiplex Immunoassay

2010 ◽  
Vol 56 (3) ◽  
pp. 445-450 ◽  
Author(s):  
Barbara A Lindau-Shepard ◽  
Kenneth A Pass
Keyword(s):  
Cystic Fibrosis ◽  
Newborn Screening ◽  
Screening Program ◽  
Pancreatic Disease ◽  
High Rate ◽  
Dna Testing ◽  
Second Tier ◽  
Sample Set ◽  
Positive Results ◽  
Immunoreactive Trypsinogen

Abstract Background: Since its beginnings, newborn screening for cystic fibrosis (CF) using an assay for immunoreactive trypsinogen (IRT) has been plagued by a high rate of false-positive results (screen positive, diagnosis negative), despite attempts to reduce this rate by use of altered cutoffs and second-tier DNA testing. IRT exists as 2 isoforms: IRT1 and IRT2, with IRT2 being more closely aligned with pancreatic disease, including CF. Assay standardization between programs is a continuing problem because the IRT assays currently in use variously recognize either 1 or both isoforms. Here we report the development of a multiplexed assay for both forms of IRT simultaneously. Methods: Using 2 different Luminex bead sets, we developed assays for each IRT isoform separately and then combined them. Using the sum of IRT1 and IRT2 values (IRT1+IRT2), we compared the results with a CF kit currently in use. Results: In a sample set consisting of 16 cases confirmed positive for CF, we established a cutoff at &gt;97 μg/L total IRT. Seven of 8 carriers with 1 CF mutation screen-positive by the standard method were also screen-positive by IRT1+IRT2. Of 32 cases screen-positive by standard IRT, 11 were screen-negative by IRT1+IRT2. None of these 11 cases had CF mutations identified by the screening program. Conclusions: These data indicate that the multiplex method with specificity for 2 isoforms of IRT has performance comparable to that of a standard IRT method and the advantage of improved standardization by detection of the 2 isoforms.

scholarly journals Pediatric injuries in an Arabian Gulf country.

1997 ◽  
Vol 3 (3) ◽  
pp. 224-226 ◽  
Author(s):  
A. Bener ◽  
O. E. el-Rufaie ◽  
N. E. al-Suweidi
Keyword(s):  
Arabian Gulf ◽  
Pediatric Injuries ◽  
Arabian Gulf Country ◽  
Gulf Country

scholarly journals Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

2020 ◽  
Vol 6 (1) ◽  
pp. 2 ◽  
Author(s):  
Patricia L. Hall ◽  
Rossana Sanchez ◽  
Arthur F. Hagar ◽  
S. Caleb Jerris ◽  
Angela Wittenauer ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Screening Program ◽  
Molecular Testing ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Analytical Tools ◽  
Mps I

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution.

scholarly journals Unwelcome? English as a Medium of Instruction (EMI) in the Arabian Gulf

2017 ◽  
Vol 10 (8) ◽  
pp. 11
Author(s):  
Qais S. Ahmadi
Keyword(s):  
Arabian Gulf ◽  
Structured Interview ◽  
Residual Effects ◽  
Student Perspective ◽  
Medium Of Instruction ◽  
Intensive English Program ◽  
Language Classroom ◽  
Arabian Gulf Country ◽  
Gulf Country ◽  
English Program

The Qatari college EFL (English as a Foreign Language) classroom is revisited in the author’s second action research study conducted in the small Arabian Gulf country. The literature review allowed the author to gather themes that lead to this groundbreaking inquiry of the residual effects resulting from educational language reforms in the country. Due to the beginning stages of English as a medium of instruction (EMI) in Qatar, to the author’s knowledge, no such research has taken place until now. The qualitative data collection method involved 11 focus group participants from the researcher’s advanced-intermediate IEP (Intensive English Program) class that underwent a semi-structured interview. Results determine that, if given the choice, students would rather receive instruction in the Arabic medium instead of English to pursue undergraduate studies. The author offers additional research questions and recommendations in understanding the student perspective and why the EMI reforms have not been successful.

Clinical and molecular characteristics and time of diagnosis of patients with classical galactosemia in an unscreened population in Turkey

2019 ◽  
Vol 32 (7) ◽  
pp. 675-681
Author(s):  
Pelin Teke Kisa ◽  
Melis Kose ◽  
Ozlem Unal ◽  
Esra Er ◽  
Burcu Ozturk Hismi ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Autosomal Recessive ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Geographical Location ◽  
Molecular Characteristics ◽  
Phenotype Correlation ◽  
Classical Galactosemia ◽  
Pathogenic Variants ◽  
Turkish Patients

Abstract Classical galactosemia is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in the GALT gene. With the benefit of early diagnosis by newborn screening, the acute presentation of galactosemia can be prevented. In this study, we describe the clinical phenotypes, time of diagnosis and GALT genotypes of 76 galactosemia patients from Turkey, where the disease is not yet included in the newborn screening program. The median age at first symptom was 10 days (range 5–20), while the median age at diagnosis was 30 days (range 17–53). Nearly half of the patients (36 patients, 47.4%) were diagnosed later than age 1 month. Fifty-eight individuals were found to have 18 different pathogenic variants in their 116 mutant alleles. In our sample, Q188R variant has the highest frequency with 53%, the other half of the allele frequency of the patients showed 17 different genotypes. Despite presenting with typical clinical manifestations, classical galactosemia patients are diagnosed late in Turkey. Due to the geographical location of our country, different pathogenic GALT variants may be seen in Turkish patients. In the present study, a clear genotype-phenotype correlation could not be established in patients.

Sign in / Sign up

Export Citation Format

Share Document