scholarly journals Genetic Background of Congenital Chloride Diarrhea in High-Incidence Populations: Finland, Poland, and Saudi Arabia and Kuwait

1998 ◽  
Vol 63 (3) ◽  
pp. 760-768 ◽  
Author(s):  
Pia Höglund ◽  
Mari Auranen ◽  
Jerzy Socha ◽  
Kataryna Popinska ◽  
Hisham Nazer ◽  
...  
2021 ◽  
Vol 11 (1) ◽  
pp. 51
Author(s):  
Ameen Ali Alhaznawi ◽  
Abdullah Saleh Alanazi

The purpose of this study is to explore the attitudes of faculty members at higher education toward inclusion for students with high incidence disabilities in higher education. For the aim of this study, a sample of 247 higher education faculty members were therefore collected. Multiple linear regression was conducted for data analysis. Results have shown that university-type accommodation services, training, academic rank, and university region are statistically significant predictors of higher education faculty members’ attitudes toward the inclusion for students with high incidence disabilities in higher education. Some recommendations are hence provided to help improve the inclusion of students with high incidence disabilities in higher education in Saudi Arabia.


1987 ◽  
Author(s):  
A M A Gader ◽  
H Bahakim ◽  
S Malaika ◽  
F A Jabbar

Geographical and racial differences in the incidence of thrcmbo-embolisn could be related to basic dissimilaritiesin the haemostatic system in different ethnic groups. However reliable comparative population studies in haemostatic parameters is lacking. The large expatriate ccmnunity in Saudi Arabia offers such a chance.Subjects tested were all healthy blood donors (aged 20-50 years) and were classified on the basis of ethnic origininto three categories (1) Arabs n=750, (2) Westerns (Americans and Europeans) n=400, and (3) S.E. Asians (Filipinos) n=570. The measurements done included PT, PTT, TT, Reptilase time, Plasma fibrinogen, AT III, Plasminogen, F.VIII:C, FX, α-2 Antiplasmin and Platelet aggregation in response to ADP (20.0, 2.0, 1.0, 0.5 & 0.25 uM), Collagen, Arachidonic acid, Adrenaline and Ristocetin (1.5, 1.2 & 1.0 mg/ml).There were no significant ethnic differences in the measured plasmatic clotting tests. This contrasts the finding of many smaller studies. Besides no significant ethnic differences were noted in platelet aggregation response to high doses of ADP (20 uM) or Ristocetin (1.5 mg/ml) and to Collagen. However, 45% of the S.E. Asians displayed abnormally inhibited responses to Adrenaline when compared to Arabs (34%) and Westerns (35.2%). Asians also displayed more inhibited responses to lower doses of ADP (2.0 & 1.0 uM) . On the other hand, S.E. Asians showed the lowest incidence of inhibited Arachidonic acid responses (9%) when compared to Arabs (24%) and Westerns (26%) . Similar racial differences were noted in response to low doses of Ristocetin (1.2 & 1.0 mg%) where Arabs and Asians showed high incidence of abnormally reduced responses (26-28%) when compared to Westerns (15%). No evidence of enhanced aggregation could be detected in Westerns. Changes of climate and/or dietary habits could be important factors influencing the haemostatic system in such a way that reduces ethnic dissimilarities.


2007 ◽  
Vol 27 (23) ◽  
pp. 8205-8214 ◽  
Author(s):  
Han Li ◽  
Hannes Vogel ◽  
Valerie B. Holcomb ◽  
Yansong Gu ◽  
Paul Hasty

ABSTRACT Ku70 forms a heterodimer with Ku80, called Ku, that is critical for repairing DNA double-stand breaks by nonhomologous end joining and for maintaining telomeres. Mice with either gene mutated exhibit similar phenotypes that include increased sensitivity to ionizing radiation and severe combined immunodeficiency. However, there are also differences in the reported phenotypes. For example, only Ku70 mutants are reported to exhibit a high incidence of thymic lymphomas while only Ku80 mutants are reported to exhibit early aging with very low cancer levels. There are two explanations for these differences. First, either Ku70 or Ku80 functions outside the Ku heterodimer such that deletion of one is not identical to deletion of the other. Second, divergent genetic backgrounds or environments influence the phenotype. To distinguish between these possibilities, the Ku70 and Ku80 mutations were crossed together to generate Ku70, Ku80, and double-mutant mice in the same genetic background raised in the same environment. We show that these three cohorts have similar phenotypes that most resemble the previous report for Ku80 mutant mice, i.e., early aging without substantially increased cancer levels. Thus, our observations suggest that the Ku heterodimer is important for longevity assurance in mice since divergent genetic backgrounds and/or environments likely account for these previously reported differences.


2017 ◽  
Vol 10 ◽  
pp. 117955141771020 ◽  
Author(s):  
Ayman Abdullah Al Hayek ◽  
Asirvatham Alwin Robert ◽  
Ghazi Alshammari ◽  
Husain Hakami ◽  
Mohamed Abdulaziz Al Dawish

Background/objectives: A high incidence of hypogonadism in men with type 2 diabetes (T2D) has been globally reported. This study aimed to determining the frequency of hypogonadism and related risk factors among men with T2D in a single-site hospital in Saudi Arabia. Design and methods: A cross-sectional study was performed on 157 men with T2D (between 30 and 70 years of age). Using a prestructured questionnaire, the demographic features of these patients were gathered and their medical records were referred to gather information regarding the duration of the diabetes, smoking habits, and the presence of retinopathy, neuropathy, and nephropathy. Besides these, the biochemical parameters, total testosterone (TT), free testosterone, sex hormone–binding globulin, follicle-stimulating hormone, luteinizing hormone, prolactin, serum lipids, and glycosylated hemoglobin were also recorded. All the patients submitted the fully completed Androgen Deficiency in Aging Male (ADAM) questionnaire. The combination of symptoms (positive ADAM score) plus a TT level ⩽8 nmol/L constituted the condition of hypogonadism. Results: The total frequency of hypogonadism was 22.9% (36/157). Of the 157 total patients, 123 (78.3%) were shown to be ADAM positive, and of these, 90 (73.2%) exhibited decreased libido, 116 (94.3%) had weak erections, and 99 (80.5%) reported more than 3 symptoms of ADAM. Of these hypogonadic patients, 22.2% (n = 8) revealed primary hypogonadism, whereas 77.8% (n = 28) showed secondary hypogonadism. From the univariate analysis conducted, significant relationship was observed between treatment type, body mass index (BMI), and hypogonadism. The regression analysis showed BMI acting an independent risk factor of hypogonadism. Conclusions: Saudi men with T2D revealed a high incidence of hypogonadism. Body mass index was identified as an independent risk factor for hypogonadism.


2011 ◽  
Vol 12 (8) ◽  
pp. 676-681 ◽  
Author(s):  
Abdelhadi M Habeb ◽  
Mohamed SF Al-Magamsi ◽  
Sabah Halabi ◽  
Ihsan M Eid ◽  
Sheren Shalaby ◽  
...  

2010 ◽  
Vol 38 (6) ◽  
pp. 1676-1680 ◽  
Author(s):  
Anna A. Torgasheva ◽  
Pavel M. Borodin

Inversion heterozygotes are expected to suffer from reduced fertility and a high incidence of chromosomally unbalanced gametes due to recombination within the inverted region. Non-homologous synapsis of the inverted regions can prevent recombination there and diminish the deleterious effects of inversion heterozygosity. The choice between non-homologous and homologous synapsis depends on the size of inversion, its genetic content, its location in relation to the centromere and telomere, and genetic background. In addition, there is a class of inversions in which homologous synapsis is gradually replaced by non-homologous synapsis during meiotic progression. This process is called synaptic adjustment. The degree of synaptic adjustment depends critically on the presence and location of the COs (crossovers) within the inversion loop. Only bivalents without COs within the loop and those with COs in the middle of the inversion can be completely adjusted and became linear.


2017 ◽  
Vol 18 (10) ◽  
pp. 959-963 ◽  
Author(s):  
Thamer Alkhadra

ABSTRACT Introduction The present study analyzed the characteristics of malocclusions, occlusal traits among Special Health care Needs (SHCN) children with Down syndrome (DS) and autism disorder (AD) in Riyadh City, Kingdom of Saudi Arabia. Materials and methods A total of 100 DS and 100 AD children from five rehabilitation centers in and around Riyadh, Kingdom of Saudi Arabia, were included in the study. Any children with history of ongoing medical treatment, extraction, or orthodontic treatment were excluded from the study. Out of the 200 patients examined, 131 were males and 69 were females and the age of the children ranged from 6 to 14 years. The children were examined for malocclusion characteristics using the Angle's classification of malocclusion, and also other occlusal traits, such as overjet, overbite, cross bite, and open bite were also determined. The data obtained were analyzed using Statistical Package for the Social Sciences, version 16 to generate descriptive statistics for each variable. Results The analyzed data of the right and left permanent molar relation showed higher incidence of class III malocclusion (66%) in DS children as compared with (3–4%) AD children. The AD children presented with higher percentage of class I malocclusion (40–41%) as compared with (10–14%) DS children. During examination of the primary molars, the analyzed data showed that left primary molar had more mesial shift in AD children as compared with DS children. Conclusion Down syndrome children had high incidence of class III malocclusion and autistic children had high incidence of class I malocclusion. Overall, the DS children were more prone to malocclusion. Clinical significance This study provides database for health professionals in Saudi Arabia in regard to malocclusion of autistics and DS patients. How to cite this article Alkhadra T. Characteristic of Malocclusion among Saudi Special Need Group Children. J Contemp Dent Pract 2017;18(10):959-963.


2018 ◽  
Author(s):  
Silvana Pereyra ◽  
Claudio Sosa ◽  
Bernardo Bertoni ◽  
Rossana Sapiro

AbstractPreterm birth (PTB), defined as infant delivery before 37 weeks of completed gestation, results of the interaction of both genetic and environmental components and constitutes a complex multifactorial syndrome. Transcriptome analysis of PTB has proved challenging because of the multiple causes of PTB and the numerous maternal and fetal gestational tissues that must interact to facilitate parturition. A common pathway of labor and PTB may be the activation of fetal membranes. In this work, chorioamnion membranes from severe preterm and term fetus were analyzed using RNA sequencing. A total of 270 genes were differentially expressed (DE): 252 were up-regulated and 18 were down-regulated in the severe preterm compared to the term births. We found great gene expression homogeneity in the control samples, and not in severe preterm samples. In this work, we identified up-regulated pathways that were previously suggested as leading to PTB like immunological and inflammatory paths. New pathways that were not identified in preterm like the hemopoietic path appeared up-regulated in preterm membranes. A group of 18 down-regulated genes discriminates between term and severe preterm cases. These genes potentially characterize a severe preterm transcriptome pattern and therefore are candidate genes for understanding the syndrome. Some of the down-regulated genes are involved in the nervous system, morphogenesis (WNT-1, DLX5, PAPPA2) and ion channel complexes (KCNJ16, KCNB1), making them good candidates as biomarkers of PTB.The identification of this DE gene pattern may help to develop a multi-gene disease classifier. These markers were generated in an admixtured South American population where PTB has a high incidence. Since genetic background may impact differentially in different populations it is mandatory to include populations like South American and African ones that are usually excluded from high throughput approaches. These classifiers should be compared to those in other populations to get a global landscape of PTB.


1995 ◽  
Vol 15 (5) ◽  
pp. 441-442 ◽  
Author(s):  
Amir F. Kagalwalla ◽  
Assad MA Abdullah

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