Annals of Saudi medicine
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Annals of Saudi medicine · Mar 2014
Case ReportsA novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.
We describe in this report the clinical, biochemical, and molecular features of a Saudi infant with hepatocerebral MDS secondary to a novel homozygous mutation in the MPV17 gene. An automated sequencing of the nuclear MPV17 gene was performed. The coding region (7 exons) of the MPV17 gene was amplified using an M13-tagged intronic primer and screened by direct sequencing of the PCR-amplified products (GenBank Association Number NM_002437.4). ⋯ This particular sequence variant has not been previously reported as a single-nucleotide polymorphism (SNP) or pathogenic mutation. Diagnostic workup for neonatal liver disorders should include mutation screening for known genes. The new advances in molecular genetics can help clinicians establish the diagnosis in a timely fashion, which may prevent a child from undergoing invasive and expensive investigations.
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Annals of Saudi medicine · Mar 2014
Consanguinity and isolated atrial septal defect in North East of Iran.
The rate of consanguineous marriage is high in Middle Eastern countries such as Iran. The relationship between consanguineous marriage and congenital heart disease is discussed in some studies, but there is not much data for relationship between atrial septal defect (ASD) and consanguineous marriage. The aim of this study was to evaluate the relationship between consanguineous marriage and ASD echocardiographic characteristics. ⋯ Considering the fact that there is a high prevalence of ASD and consanguineous marriage in Iran and bearing in mind the results of the present study, we recommend educating couples about the outcomes of consanguineous marriage in pre-marriage counseling.
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Annals of Saudi medicine · Mar 2014
Toward malaria eradication in Saudi Arabia: evidence from 4-year surveillance in Makkah.
Saudi Arabia has implemented strategies for the eradication of malaria. However, influx of people from countries endemic for malaria for either employment or Hajj makes the country highly susceptible to malaria importation. The Makkah region is known to host millions of immigrants yearly and has a surveillance system to monitor the incidence of malaria. The objective of this study was to examine malaria patients, nationality, and parasite type in Makkah region between 2008 and 2011. ⋯ The low frequency of malaria in Makkah suggests that Saudi Arabia is in the consolidation phase of malaria eradication. The absence of local transmission of malaria is indicated by low frequency of malaria in children less than 5 years of age, and high frequency of malaria in non-Saudis is evidence of malaria importation. Health workers attending to foreigners with febrile illness from Pakistan, Nigeria, and India should consider malaria as their first line of suspicion.
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Annals of Saudi medicine · Mar 2014
Overproduction of CXC chemokines CXCL1, CXCL9, CXCL10 and CXCL12 in β-thalassemia major or patients.
B-thalassemia major is one of the most frequent hematological genetic disorders, worldwide. Chemokines are the main components of the immune system and play fundamental roles in pathogenesis of inflammatory disorders. Therefore, the present study aimed to examine whether serum CXC chemokines are altered in b-thalassemia major patients. ⋯ According to the results obtained, it can probably be concluded that chemokines are also involved in the pathogenesis of b-thalassemia major and its clinical complications in addition to several other parameters.
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Annals of Saudi medicine · Mar 2014
Distribution of ideal cardiovascular health in a community-based cohort of Middle East population.
To improve cardiovascular (CV) health of American population, the American Heart Association (AHA) developed definitions of ideal, intermediate, and poor CV health based on 7 accessible health metrics. The applicability of this construct and the distribution of its components in the community-based populations in the Middle East region have not been reported. ⋯ The frequency of ideal CV health was extremely low in this cohort of adults. The frequency of intermediate CV health was also low, and it may be significantly lower in the general population.