Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature

Height is a heritable and highly heterogeneous trait. Short stature affects 3% of the population and in most cases is genetic in origin. After excluding known causes, 67% of affected individuals remain without diagnosis. To identify novel candidate genes for short stature, we performed exome sequencing in 254 unrelated families with short stature of unknown cause and identified variants in 63 candidate genes in 92 (36%) independent families. Based on systematic characterization of variants and functional analysis including expression in chondrocytes, we classified 13 genes as strong candidates. Whereas variants in at least two families were detected for all 13 candidates, two genes had variants in 6 (UBR4) and 8 (LAMA5) families, respectively. To facilitate their characterization, we established a clustered network of 1025 known growth and short stature genes, which yielded 29 significantly enriched clusters, including skeletal system development, appendage development, metabolic processes, and ciliopathy. Eleven of the candidate genes mapped to 21 of these clusters, including CPZ, EDEM3, FBRS, IFT81, KCND1, PLXNA3, RASA3, SLC7A8, UBR4, USP45, and ZFHX3. Fifty additional growth-related candidates we identified await confirmation in other affected families. Our study identifies Mendelian forms of growth retardation as an important component of idiopathic short stature

A Comparison Study in the Management of Ectopic Pregnancy between State of Qatar and Kingdom of Bahrain

Ectopic pregnancy is of increasing concern to gynecologists since it is a major cause of maternal mortality and morbidity in reproductive age women. It occurs when the conceptus implants in an abnormal position other than the uterus. Although the incidence of ectopic pregnancy during the 20 years studied increased five-folds, the risk of death from ectopic pregnancy declined by 90%. This decline might be related to the increase awareness of this condition that accompanied improved diagnostic technology and thus improved management and care. However, ectopic pregnancy remains the leading cause of maternal mortality in first trimenster. This study was to evaluate the management of ectopic pregnancy in the State of Qatar and the Kingdom of Bahrain in a time period from January I, 2000 to August 31, 2003. Statistical analysis showed high incidence of ectopic pregnancy with increase in age and abortion. Etiological factors including contraceptive usage, infertility treatment and previous ectopic pregnancy were shown to increases ectopic pregnancy rates. In the Kingdom of Bahrain, management of ectopic pregnancy was carried by surgical salpingectomy and Laparoctomy and to a lesser extend medical Methotrexate management was also carried on. While in the State of Qatar it was the opposite as Methotrexate was mainly used rather than the surgical treatment. It is recommended that further investigations are needed to enhance this data and to prove the benefits of medical management over the surgical management.qscienc

Evaluation of the Universal Screening Strategy in Qatar for the Management of Pregnant Women Carrying Group B Streptococci

Group B Streptococcus infection (GBS) has emerged as a serious disease, infecting 18,000 people in the United States annually including life-threatening illness in about 8,000 newly-born infants. To evaluate the efficiency of the current universal screening strategy for the management of GBS carriers a retrospective analysis was made of the records of 1,620 pregnant women in Qatar, 550 of whom were found to be carriers. These latter were then used as a group to be compared with 450 uninfected pregnant women in terms of nationality, parity, age, treatment, and outcome. Young and nullipara pregnant women had a high incidence of GBS but there was no significant effect on birth mortality and morbidity regardless of whether or not they received treatment with antibiotics. It is suggested that the cost of screening for GBS at the 35 th week of gestation cannot be justified.qscienc

Culpability, blame, and stigma after pregnancy loss in Qatar

Background: Following a miscarriage many women report feeling guilty and culpable for what has happened particularly when aspects of societal blame and stigma are involved. This research investigated the impact of cultural context on the experience of miscarriage. In particular, it focused on how elements of stigma and blame are linked to notions of miscarriage etiology and risk among Qatari women. Methods: The research used an ethnographic approach. The data was collected over 18 months of fieldwork in Qatar, using semi-structured face to face interviews, and participant observation. A purposive sample of 40 women (primary participants) who had recently miscarried, participated in the study. Potential subjects were initially identified in the Women’s Hospital and were consented, and then interviewed in Arabic either in the hospital or at their preferred location. The interviews were audio recorded, transcribed and translated into English. Additional key interviews were performed with 20 secondary participants related to the miscarriage cohort including family members and husbands. Inductive thematic analysis of content was performed manually to extract themes. Results: Two main themes emerged from the material looking specifically at miscarriage aftermaths: rhetorics of blame, self-blame and feelings of guilt; and miscarriage attitudes. Overall society is sympathetic and miscarriage is seen as normal and not particularly worrying, but understood to be upsetting to women. However, findings suggest there is some ambivalence around blame, culpability and stigma applied to miscarriage; some participants perceived miscarriage as a relatively normal and common event, whereas, others felt that miscarriage is resounding stigma and shame. Conclusion: Miscarriage aftermaths are embedded in social, cultural and religious frameworks in relation to notions of risk and causation. Attention should be paid to ensure women and those around them are given appropriate and robust information about miscarriage causation to deflect discourses of blame that may be employed and reduce harm to women who suffer miscarriage

C-Reactive Protein in the Premature Rupture of the Membranes

Premature rupture of the membranes (PROM) defined as a rupture of membranes before onset of labor, which is one of the most complications of pregnancy that leads to significant maternal and neonatal morbidity and mortality. These complications depend on the gestational age to which it occurred. The aim of this study is to determine diagnostic value of CRP during pregnancy complicated by PROM. Retrospective study performed at Hamad Women's Hospital in Qatar. Data collected from files in the Medical Records over a two period from 27/11/2000 to 27/11/2002. One hundred and fifty cases were chosen and divided into: Group (la) 50 patients with PROM before 37 wks. Group (lb) 50 patients with PROM after 37 wks. Group (2) 50 patients as control. Statistical analysis showed high incidence of Oligohydroamnios and polyhydramnios in the group 1 compared with control Measurement of maternal blood CRP early before 37 weekindicated significant relation between the prevalence of premature rupture of the membranes, associated oligohydramnios with the incidence of positive results of CRP. We recommend that further investigations needed to document our data and to prove the beneficial effect of the test especially before 37 week of gestations.qscienc

Magnetostrictive materials for aerospace applications

Structural health monitoring of composite structures to detect barely visible damage is vitally important for the aerospace industry. This research has investigated amorphous magnetostrictive wires (Fe77.5Si7.5B15 and Co72.5Si12.5B15), as a possible solution to monitoring aerospace composites. The different amorphous wires were either embedded into the composite or epoxied on to the surface. How the wires effected the structure of the composite along with ultimate tensile strength was studied. Inductance measurements were used to study the strain within the composite, which provided a non-intrusive method of monitoring the composite

Investigation of enhanced double weight code in point to point access networks

© 2020 Published under licence by IOP Publishing Ltd. In this paper, an investigation and evaluation to enhanced double weight (EDW) code is performed, a new technique for code structuring and building using modified arithmetical model has been given for the code in place of employing previous technique based on Trial Inspections. Innovative design has been employed for the code into P2P networks using diverse weighted EDW code to be fitting into optical CDMA relevance applications. A new developed relation for EDW code is presented, the relation is based on studying and experimenting the effect of input transmission power with code weight, and the relation developed using numerical analysis method. This relation makes the estimation for the system input power needed more efficient. The results of the code has been explained by eye diagram and parametric illustrations from the simulated results. The result shows a magnificent performance of the code during high number of users and weight. On the other hand, the relation developed for power measurement helps to prevent power loss and consumption

Calm Vessels: Cultural Expectations of Pregnant Women in Qatar

This article explores emerging themes from the first stage of ethnographic research investigating pregnancy and loss in Qatar. Issues around the development of foetal personhood, the medical management of the pregnant body and the social role of the pregnant woman are explored. Findings suggest that Qatari women are expected to be calm vessels for their growing baby and should avoid certain foods and behaviours. These ideas of risk avoidance are linked to indigenous knowledge around a mother’s influence on a child’s health and traits. Motherhood holds a particularly important place in Qatari culture and in Islam, and women are ultimately responsible for protecting and promoting fertility and for producing healthy children

Teachers\u27 Use of YouTube in the United Arab Emirates: An Exploratory Study

Teachers around the world are using YouTube movies for different purposes. This mixed-methods study was a preliminary investigation of United Arab Emirates teachers\u27 perceptions about YouTube\u27s advantages in the classroom, current practices, and major challenges faced. Forty-five teachers completed an open-ended questionnaire. Results indicated that perceived advantages included supporting the learning process, increasing interest and efficiency, and enriching content. Moreover, findings revealed that the majority of participants were using videos for presentation purposes in teacher-led classrooms. Connectivity, technical issues, appropriateness of content, and administrative support were perceived as major challenges. © 2013 Copyright Taylor and Francis Group, LLC

A Novel Poisoned Water Detection Method Using Smartphone Embedded Wi-Fi Technology and Machine Learning Algorithms

Water is a necessary fluid to the human body and automatic checking of its quality and cleanness is an ongoing area of research. One such approach is to present the liquid to various types of signals and make the amount of signal attenuation an indication of the liquid category. In this article, we have utilized the Wi-Fi signal to distinguish clean water from poisoned water via training different machine learning algorithms. The Wi-Fi access points (WAPs) signal is acquired via equivalent smartphone-embedded Wi-Fi chipsets, and then Channel-State-Information CSI measures are extracted and converted into feature vectors to be used as input for machine learning classification algorithms. The measured amplitude and phase of the CSI data are selected as input features into four classifiers k-NN, SVM, LSTM, and Ensemble. The experimental results show that the model is adequate to differentiate poison water from clean water with a classification accuracy of 89% when LSTM is applied, while 92% classification accuracy is achieved when the AdaBoost-Ensemble classifier is applied