Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

Retinal dystrophy (RD) is a heterogeneous group of hereditary diseases caused by loss of photoreceptor function and contributes significantly to the etiology of blindness globally but especially in the industrialized world. The extreme locus and allelic heterogeneity of these disorders poses a major diagnostic challenge and often impedes the ability to provide a molecular diagnosis that can inform counseling and gene-specific treatment strategies. In a large cohort of nearly 150 RD families, we used genomic approaches in the form of autozygome-guided mutation analysis and exome sequencing to identify the likely causative genetic lesion in the majority of cases. Additionally, our study revealed six novel candidate disease genes (C21orf2, EMC1, KIAA1549, GPR125, ACBD5, and DTHD1), two of which (ACBD5 and DTHD1) were observed in the context of syndromic forms of RD that are described for the first time

Congenital tumors: imaging when life just begins

BACKGROUND: The technical developments of imaging methods over the last 2 decades are changing our knowledge of perinatal oncology. Fetal ultrasound is usually the first imaging method used and thus constitutes the reference prenatal study, but MRI seems to be an excellent complementary method for evaluating the fetus. The widespread use of both techniques has increased the diagnosis rates of congenital tumors. During pregnancy and after birth, an accurate knowledge of the possibilities and limits of the different imaging techniques available would improve the information obtainable, thus helping the medical team to make the most appropriate decisions about therapy and to inform the family about the prognosis. CONCLUSION: In this review article, we describe the main congenital neoplasms, their prognosis and their imaging characteristics with the different pre- and postnatal imaging methods available

Evaluation of physiological traits, yield and yield components at two growth stages in 10 durum wheat lines grown under rainfed conditions in Southern Syria

Water stress, which limits the distribution and productivity of durum wheat (Triticum durum Desf.) in the Mediterranean region, is also considered to be a major factor reducing yield in semiarid regions. Improving drought resistance is thus an important objective in plant breeding programs for rainfed agriculture. The current study was carried out to identify drought-tolerant durum wheat lines among 10 lines and one variety (Douma1, the control) in the first and second settlement zones in the Southern part of Syria and to recognize the most important physiological parameters associated with drought tolerance. Membrane stability index, chlorophyll (chl) content, relative water content and chl fluorescence were recorded at the vegetative and anthesis stages, as were yield and yield components. Data recorded at vegetative and anthesis stages in both zones showed that there were significant differences between all lines growing in the first and second settlement zones and that all characters in the second zone were significantly lower than those in the first zone. Line 1 was superior to Douma1 in terms of membrane stability index, relative water content, chl content and chl florescence, also showing better yield and higher total plant biomass, tiller number/m2, 1000 grain weight and grain number/ear than the control. The ability of wheat cultivars to perform reasonably well in variable rainfall and water-stressed environments is an important trait since it allows for stable production under drought stress. Moreover, prior to genetic manipulation, it is important to characterize the physiological parameters of known drought-tolerant or drought-sensitive wheat cultivars with the objective of better understanding their physiological responses under drought

The association between kinesiophobia and dynamic balance in patients with patellofemoral pain syndrome

OBJECTIVE: The aim of the study was to examine the relationship between Kinesiophobia and dynamic balance in patients with patellofemoral pain syndrome (PFPS). PATIENTS AND METHODS: Forty subjects with PFPS [20 Low Kinesiophobia (LK), 20 High Kinesiophobia (HK)], and 20 pain-free subjects (control group) were enrolled in the study. All subjects performed a Y-balance test to measure the dynamic balance. Normalized reach distance and balance parameters were recorded. RESULTS: Our findings indicated that patients with PFPS who have a greater Kinesiophobia showed a poorer dynamic balance. In addition, the HK group showed a significantly lower mean reach distance score in the anterior, posterolateral, and posteromedial directions compared to LK and healthy groups. CONCLUSIONS: Addressing the psychological factors such as Kinesiophobia during examination and treatment of people with PFPS may be important to improve the dynamic balance

Cyberbullying detection framework for short and imbalanced Arabic datasets

Cyberbullying detection has attracted many researchers to detect negative comments deployed on communication platforms as cyberbullying can take many forms: verbal, implicit, explicit, or even nonverbal. The successful growth of social media in recent years has opened new perspectives on the detection of cyberbullying, although related research still encounters several challenges, such as data imbalance and expression implicitness. In this paper, we propose an automated cyberbullying detection framework designed to produce satisfactory results, especially when imbalanced short text and different dialects exist in the Arabic text data. In the proposed framework a new method to solve the imbalance problem is suggested, where the modified simulated annealing optimization algorithm is used to find the optimal set of samples from the majority class to balance the training set. This method has been evaluated using traditional machine learning algorithms including support vector machine, and deep learning algorithms including Long Short-Term Memory (LSTM) and Bidirectional LSTM (Bi-LSTM). To generate a framework that can detect Arabic written cyberbullying on communication platforms, the accuracy, recall, specificity, sensitivity and mean squared error are used as the main performance indicators. The results indicate that the proposed framework can improve the performance of the tested algorithms, and Bi-LSTM outperforms other methods for cyberbullying classification

Low Back Pain Prevalence among Distance Learning Students

Background: Low back pain as a symptom affects many individuals around the globe regardless of their economic status or sociodemographic characteristics. During the 2019 COVID-19 pandemic, students found themselves obligated to sit down for long periods of time. The aim of this current study is to investigate the impact of these prolonged periods of sitting down in front of computers on developing a new episode of low back pain. Methods and Materials: This research adopted an observational cross-section study design. Students who are currently enrolled or had experienced distance learning classes in the last 6 months were eligible to participate. An online-based questionnaire was developed by the investigators through reviewing the literature with relevant objectives. McNemar’s test was used to compare certain variables between two periods before and during online distance learning. We used paired t-tests to compare pain intensity before, during, and after online learning, while a chi-square test was used to investigate correlations between factors influencing low back pain. Results: A total of 84 students participated in the study—46 (54.8%) females and 38 (45.2%) males. Before online distance learning, only 42.9% of participants reported low back pain, while only 20% had a back injury. The mean pain scores before, during, and after online distance learning were (2.85 ± 2.16, 4.79 ± 2.6, and 4.76 ± 2.7), respectively. The pain scores before online learning were significantly lower than pain scores during and after online distance learning (p < 0.05), respectively. Conclusion: The study findings suggested that low back pain prevalence increased among students during the COVID-19 pandemic. Future research should study participants’ behavior during the online learning and assess the long-run impact of distance learning among high-school and undergraduate students

Birth Outcomes in a Prospective Pregnancy-Birth Cohort Study of Environmental Risk Factors in Kuwait: The TRACER Study

Background—Rapid development and westernisation in Kuwait and other Gulf states have been accompanied by rising rates of obesity, diabetes, asthma, and other chronic conditions. Prenatal experiences and exposures may be important targets for intervention. We undertook a prospective pregnancy–birth cohort study in Kuwait, the TRansgenerational Assessment of Children’s Environmental Risk (TRACER) Study, to examine prenatal risk factors for early childhood obesity. This article describes the methodology and results of follow-up through birth. Methods—Women were recruited at antenatal clinical visits. Interviewers administered questionnaires during the pregnancy and collected and banked biological samples. Children are being followed up with quarterly maternal interviews, annual anthropometric measurements, and periodic collection of biosamples. Frequencies of birth outcomes (i.e. stillbirth, preterm birth, small and large for gestational age, and macrosomia) were calculated as a function of maternal characteristics and behaviours. Results—Two thousand four hundred seventy-eight women were enrolled, and 2254 women were followed to delivery. Overall, frequencies of stillbirth (0.6%), preterm birth (9.3%), and small for gestational age (7.4%) were comparable to other developed countries, but not strongly associated with maternal characteristics or behaviours. Macrosomia (6.1%) and large for gestational age (23.0%) were higher than expected and positively associated with pre-pregnancy maternal overweight/obesity. Conclusions—A large birth cohort has been established in Kuwait. The collected risk factors and banked biosamples will allow examination of the effects of prenatal exposures on the development of chronic disease in children. Initial results suggest that maternal overweight/obesity before pregnancy should be targeted to prevent macrosomia and its associated sequelae of childhood overweight/obesity