Genetic variation in the FMO2 gene: evolution & functional consequences

PhDFlavin-containing monooxygenase 2 (FMO2) is involved in the metabolism of xenobiotics, including therapeutic drugs. FMO2 exists in two forms: a functional and a non-functional form. The functional allele is found only in Africa and individuals of recent African origin. The aims of the project were to determine the frequency of functional FMO2 in Africa and obtain insights into the evolutionary history of the FMO2 gene. Six hundred and eighty nine samples from nine African population groups were genotyped for six high-frequency SNPs, and the genetic diversity within FMO2 was characterized by sequencing 3.44 kb of genomic DNA, encompassing the entire coding sequence and some flanking intronic sequences in 48 African individuals. Haplotypes were inferred using Phase and the relationship between mutations was revealed using reduced-median and median-joining Network. Test statistics were used to determine whether the genetic variation is compatible with neutral evolution. Genotyping indicated that deleterious SNPs occur mostly on a non-functional allele and that the frequencies of three were significantly different (P<0.05) among populations. Resequencing identified 32 variants. Genetree was used to estimate the time to the most recent common ancestral sequence (~0.928 million years) and the ages of some of the mutations. Results indicate that the frequency of full-length 23238C alleles is relatively uniform across sub-Saharan Africa. Interestingly, this is not the case for the inferred potentially functional 23238C alleles, which frequency differed significantly (P<0.05) across sub-Saharan Africa. iv The results also provide evidence that the frequency of functional FMO2 in east and west-Africa is high (≥0.54), which has important implications for therapy with drugs that are substrates for FMO2. A Ka/Ks > 1, and low nucleotide sequence diversity of intronic regions of 23238C alleles indicate a possible selective sweep.King Saud university of Riyadh Saudi Arabia

Resolving severe oligohydramnios as an early prenatal presentation of renal coloboma syndrome—A report of two generations

This report suggests that self-resolving oligohydramnios is an early sign of malfunctioning kidney in individuals with renal coloboma syndrome (RCS) and demonstrates how a genetic diagnosis can impact patient and fetal management as it outlines two generations of RCS

The relationship between thinking and beyond knowledge and intelligence in secondary education

  Experienced in the field of graduate studies, with experience in the field of graduate studies (72) students of secondary school students were chosen by the random way, and what about them? The results of the research are to verify the validity of the hypotheses. The results are as follows: 1. The existence of a meaningful relationship in the dreams between the thinking of the cognitive and cognitive intelligence 2. There are statistically significant differences between mean temperatures. 3. There are statistically significant differences between mean temperatures. Based on the results of the study researcher in the need for further studies and field studies in thinking beyond the cognitive and link after studying in the United States high school or other educational stages in thinking beyond the cognitive strategies.

تصور مقترح لحوكمة الأنشطة اللاصفية بمدارس التعليم العام بالمملكة العربية السعودية في ضوء التجارب العالمية

الأهداف: سعت الدراسة التعرف إلى واقع حوكمة الأنشطة اللاصفية بمدارس التعليم العام بالمملكة العربية السعودية، وبناء تصوُّر مقترح للحوكمة في ضوء التجارب العالمية. المنهجية: اعتمدت الدراسة المنهج الوصفي الوثائقي، واستخدمت أداة تحليل المحتوى لجمع وتحليل البيانات النوعية من عينة متمثلة بعدد (23) وثيقة رسمية بالدول الخمس المرجعية. كما تم استخدام آلية تحليل محتوى الوثائق بطريقته الاستنباطية (العساف، 2012)، والتي تسمح بمقارنة نتائج التحليل بين الوثائق في الدول المرجعية، وبالتالي استنتاج واستخراج ما يجيب عن تساؤلات الدراسة في مجالات الدراسة القياسية (السياسات واللوائح المنظمة للأنشطة اللاصفية، آليات تعزيز مشاركة الطلبة، التمويل وضوابط مشاركة القطاعات). النتائج: توصلت الدراسة في نتائجها إلى اتفاق المملكة مع الممارسات العالمية في مدارس التعليم العام في كل من: (توفير دليل تنظيمي للأنشطة اللاصفية، تحديد مسؤوليات العاملين المشرفين على الأنشطة اللاصفية، تقديم الأنشطة اللاصفية في الفترة الصباحية والمسائية، تمويل ودعم الأنشطة اللاصفية عبر الشراكة مع القطاع الخاص، وإعطاء مدير المدرسة صلاحية الاتفاق مع القطاع الخاص). في حين لا توجد معايير خاصة لاختيار المشاركين المحتملين من القطاع الخاص في تنفيذ الأنشطة اللاصفية في المملكة، إلى جانب وجود فجوة بين المملكة والممارسات العالمية في تنويع طرائق وأساليب تحفيز الطلبة للمشاركة في الأنشطة اللاصفية، وتوظيف وسائل الإعلام في التعريف بالأنشطة اللاصفية والمدارس المتميزة، وربط المشاركة في الأنشطة اللاصفية بالقبول في الجامعات. الخلاصة: توصلت الدراسة إلى بناء تصوُّر مقترح لبناء السياسات واللوائح المنظمة للأنشطة اللاصفية بمدارس التعليم العام بالمملكة العربية السعودية في ضوء التجارب العالمية، بالإضافة إلى بناء الأدلة الإجرائية لحوكمتها

TP63-mutation as a cause of prenatal lethal multicystic dysplastic kidneys

BACKGROUND: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies. METHODS: We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the termination of pregnancy, examination and autopsy further revealed unilateral polydactyly and bilateral syndactyly which had not been previously identified on antenatal ultrasound. RESULTS: Whole-exome sequencing (WES) revealed a de novo heterozygous pathogenic variant in exon 5 of the TP63 gene: p.His247Arg: c.740A\u3eG (NM_003722.4) which has been reported in the literature. The His247Arg variant has been published as a pathogenic variant in association with EEC, both with and without orofacial clefting. CONCLUSION: Our prenatal case expands the phenotypic spectrum of TP63-related disorders in general. In addition, it adds to the phenotype associated with the His247Arg pathogenic variant responsible for EEC. Further, we highlight the importance of WES as a postnatal tool to help clarify unexpected findings, and as a way to add to the spectrum of existing phenotypes of known single-gene disorders

Anti-nociceptive effect of gabapentin in mouse models of acute and chronic pain

Purpose: To investigate the anti-nociceptive effect of gabapentin in acute and chronic pain models. Methods: Four mouse models of pain were used in this study. These comprised thermal tests (hot plate and tail immersion tests), and chemical tests (formalin and acetic acid-induced writhing tests). A total of seventy-two (72) albino mice weighing 25 - 40 g (mean weight = 32.5 ± 5.1 g) were used. In each test, the mice were randomly assigned to three sets of 6 mice each: control group, celecoxib group and drug treatment group. Each test was performed at intervals of 30, 60 and 90 min. Results: During the acute phase, there was no significant decrease in foot raising (FR) or licking and biting (L &amp; B) episodes among the groups (p &gt; 0.05). However, these episodes were significantly (p &lt; 0.05) decreased in the second delayed phase, in the celecoxib and drug-treated groups, when compared with normal control group. Gabapentin significantly (p &lt; 0.05) decreased pain response throughout the course of the thermal tests. The number of writhes within 30 min were significantly reduced in celecoxib and gabapentin-treated animals, compared with negative control group (p &lt; 0.05). Gabapentin produced approximately 60 % protection of writhing, similar to that produced by celecoxib, the standard non-steroidal anti-inflammatory drug (NSAID) used (61 %). Conclusion: The results demonstrate that the gabapentin is effective against chronic inflammatory pain in mice and therefore can be potentially developed as an effective anti-inflammatory agent for humans

Measurement of the serum level of Elabela for the early detection of acute kidney injury in hospitalized Iraqi COVID-19 patients

Background: Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) is caused coronavirus disease 2019 (COVID-19) affecting people worldwide. The angiotensin converting enzyme2 (ACE2) represents a receptor of SARS-CoV-2 on the infected host cell. Apelin or its receptor agonists suppress the production of angiotensin-converting enzyme (ACE) and angiotensin II (Ang-II) and is characterized by a protective effect against SARS-CoV-2. Objective: The study aims to assess the serum level of Elabela biomarker as an early detector for Acute Kidney Injury (AKI) in patients with COVID-19. Cases and Methods: This is a case-control study which included 45 hospitalized adult patients in multiple centers (public hospitals) receiving COVID-19 cases in Baghdad. These cases had a positive real-time or reverse transcription polymerase chain reaction (RT-PCR) of nasal/oropharyngeal swabs. Excluded from the study were those with a negative PCR and comorbidities and 43 apparently healthy adult subjects as controls. The age range of the cases and controls was (20 to 60) years Result: There are no a statistically significant differences between the two groups in terms of age and gender distribution. Statistically significant differences were found in terms of eGFR, S. Creatinine, D. dimer, NEU×103 /µL, LYM×103 /µL and ELA biomarker. Significant negative correlations were found between Elabela with D. dimer and NEU×103 /µL, and between eGFR with S. creatinine, D. Dimer, and NUT×103 /µL. Conclusion: The Elabela biomarker can be used for the early detection of acute kidney injury in COVID-19 patients

Social intelligence and its relation to creative thinking among high school students in Damascus

  The study aimed to investigate the relationship between social intelligence and creative thinking among secondary school students in Damascus, in addition to identifying the level of social intelligence and creative thinking among the students in the research sample. The researcher used the analytical descriptive method. The study sample consisted of (74) students from secondary school students who were randomly selected. The study tools consisted of the first measure of social intelligence and the second measure of creative thinking. The researcher conducted the necessary statistical analysis to ascertain the psychometric characteristics of the research tools on the one hand and to verify the validity of the hypotheses on the other hand. The results were as follows: 1. There is a significant correlation between social intelligence and creative thinking among high school students (first secondary) 2. There are statistically significant differences in social intelligence among high school students due to the difference in sex (male - female) in favor of females. 3. There are no statistically significant differences in creative thinking among high school students due to gender differences (male - female). In the light of the findings of the study, the researcher recommended the necessity of preparing some activities and exercises that help to develop social intelligence in high school students and to find courses that promote and stimulate the skills of intelligence and thinking, especially social intelligence and creative thinking. The study also recommended that the teacher focus on presenting his material on skills Interpretation, analysis, flexibility, fluency and originality so that students can acquire creative thinking skill

Patterns of multiple intelligences and their relationship to achievement in mentally gifted students A study of students of excellence in Damascus

  The study aimed to study the patterns of multiple intelligences and their relation to the achievement of high-school students in the high school and to identify the types of multiple intelligences most common among the outstanding students in the research sample. The researcher followed the analytical descriptive method. The sample consisted of (72) male and female students The study tools consisted of the MIDAS scale for multiple intelligences. The researcher conducted the statistical analysis necessary to confirm the psychometric properties of the research tools and to verify the validity of the hypotheses. The results were as follows: 1. Logical intelligence was ranked first among high school students who excelled in the research sample followed by social and linguistic intelligence. 2.There are no statistically significant differences between the average grades of high school students of the high achievers on the multiple intelligences scale due to the academic achievement variable. 3.There are statistically significant differences between the average grade of high school students on the multiple intelligence scale due to the gender variable on logical intelligence in favor of males and social intelligence in favor of females. Based on the results of the study, the researcher recommends the need to conduct more research and field studies on multiple intelligences and achievement in primary or other educational stages, and a comparison between the outstanding and ordinary secondary students or other stages of education in multiple intelligences. And conduct research and studies to reveal the relationship between multiple intelligences and other variables.