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Abstract Background Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by impaired social and communication skills, restricted interests, and repetitive behaviors. The prevalence of ASD among children in Qatar was recently estimated to be 1.1%, though the genetic architecture underlying ASD both in Qatar and the greater Middle East has been largely unexplored. Here, we describe the first genomic data release from the BARAKA-Qatar Study—a nationwide program building a broadly consented biorepository of individuals with ASD and their families available for sample and data sharing and multi-omics research. Methods In this first release, we present a comprehensive analysis of whole-genome sequencing (WGS) data of the first 100 families (372 individuals), investigating the genetic architecture, including single-nucleotide variants (SNVs), copy number variants (CNVs), tandem repeat expansions (TREs), as well as mitochondrial DNA variants (mtDNA) segregating with ASD in local families. Results Overall, we identify potentially pathogenic variants in known genes or regions in 27 out of 100 families (27%), of which 11 variants (40.7%) were classified as pathogenic or likely-pathogenic based on American College of Medical Genetics (ACMG) guidelines. Dominant variants, including de novo and inherited, contributed to 15 (55.6%) of these families, consisting of SNVs/indels (66.7%), CNVs (13.3%), TREs (13.3%), and mtDNA variants (6.7%). Moreover, homozygous variants were found in 7 families (25.9%), with a sixfold increase in homozygous burden in consanguineous versus non-consanguineous families (13.6% and 1.8%, respectively). Furthermore, 28 novel ASD candidate genes were identified in 20 families, 23 of which had recurrent hits in MSSNG and SSC cohorts. Conclusions This study illustrates the value of ASD studies in under-represented populations and the importance of WGS as a comprehensive tool for establishing a molecular diagnosis for families with ASD. Moreover, it uncovers a significant role for recessive variation in ASD architecture in consanguineous settings and provides a unique resource of Middle Eastern genomes for future research to the global ASD community.

The groundwater resources have always been explored for its utilization in domestic and agriculture purposes. In this study, Winder area in Balochistan which is along the coast of Offshore Indus Basin has been explored using electrical resistivity method for deeper understanding of hydrogeological and hydrogeophysical conditions. Schlumberger electrode arrays have been used to acquire vertical electrical sounding data for 23 different sites in this area. The field data were calibrated with theoretical curves during processing using software with graphical interface. The true resistivities, depths, thicknesses, aquifer attributes, soil type and groundwater quality has been extracted from the processed data. Pseudo-sections and geo-electrical lithology sections have been generated for lateral distribution of hydrogeological settings. Furthermore, Dar-zarrouk parameters calculations have been made and 3D surfaces generated at 30m and 60 m depth for transverse resistance (T), longitudinal conductance (S) and anisotropy (λ) plotted for resistivity distribution and coastal salinity intrusion analysis. The soundings results depict five layers mainly composed of silty sand, sandy clay, sand, and sandy gravel and the depth ranges from 0-110m. The interpretation illustrates that freshwater unconfined aquifer are present in the quaternary sand and sandy gravel deposits. The water table is at shallow depth along the river and deeper in northeast and away from Winder river. The resistivity ranges 29-1091 Ωm in layer-3 interpreted as saturated zone. The approximate range of water table is 19-30 m. The higher value of T greater than 10000 shows fresh water and low value 8200 for salinity intrusion in southwest toward sea.

Abstract Background Medical students have faced an enormous disruption to their lives due to the COVID-19 pandemic. The study aimed to assess the impact of COVID-19 on medical student’s psychological well-being in Pakistan. Following ethical approval, an online survey developed in collaboration with World Psychiatric Association (WPA) was distributed among medical students of 5 Medical colleges in the Punjab province of Pakistan between August and September 2020. Patient Health Questionnaire (PHQ-9), Generalized Anxiety Disorder Scale (GAD-7), and Risk Assessment Suicidality Scale (RASS) were used to assess psychological well-being. Data was analyzed using SPSS 26.0. Results Eleven hundred medical students responded, 756 (69%) being females. More than 2/3rd admitted that their emotional state got worse in relation to appearance of anxiety, insecurity, and sadness, compared to before the outbreak of COVID-19. Prevalence of anxiety and depressive symptoms were 48.6% and 48.1%, respectively. Female medical students, pre-clinical students, and those with a previous psychiatric history reported experiencing more anxiety and depression symptoms (P value

Abstract Attention-deficit hyperactivity disorder (ADHD) is a neurological and neurodevelopmental childhood-onset disorder characterized by a persistent pattern of inattentiveness, impulsiveness, restlessness, and hyperactivity. These symptoms may continue in 55–66% of cases from childhood into adulthood. Even though the precise etiology of ADHD is not fully understood, it is considered as a multifactorial and heterogeneous disorder with several contributing factors such as heritability, auxiliary to neurodevelopmental issues, severe brain injuries, neuroinflammation, consanguineous marriages, premature birth, and exposure to environmental toxins. Neuroimaging and neurodevelopmental assessments may help to explore the possible role of genetic variations on ADHD neuropsychobiology. Multiple genetic studies have observed a strong genetic association with various aspects of neuropsychobiological functions, including neural abnormalities and delayed neurodevelopment in ADHD. The advancement in neuroimaging and molecular genomics offers the opportunity to analyze the impact of genetic variations alongside its dysregulated pathways on structural and functional derived brain imaging phenotypes in various neurological and psychiatric disorders, including ADHD. Recently, neuroimaging genomic studies observed a significant association of brain imaging phenotypes with genetic susceptibility in ADHD. Integrating the neuroimaging-derived phenotypes with genomics deciphers various neurobiological pathways that can be leveraged for the development of novel clinical biomarkers, new treatment modalities as well as therapeutic interventions for ADHD patients. In this review, we discuss the neurobiology of ADHD with particular emphasis on structural and functional changes in the ADHD brain and their interactions with complex genomic variations utilizing imaging genetics methodologies. We also highlight the genetic variants supposedly allied with the development of ADHD and how these, in turn, may affect the brain circuit function and related behaviors. In addition to reviewing imaging genetic studies, we also examine the need for complementary approaches at various levels of biological complexity and emphasize the importance of combining and integrating results to explore biological pathways involved in ADHD disorder. These approaches include animal models, computational biology, bioinformatics analyses, and multimodal imaging genetics studies.

Abstract Novel mutant camelina has become a crop of interest inspired by its short growing season, low harvesting costs and high oil composition. Despite those advantages, limited research has been done on novel mutant lines to determine applicability for biodiesel production. Jatropha is an extremely hardy, frugal and high oil yielding plant species. The major aim of the present study was not only to compare biodiesel production from jatropha and camelina but was also to test the efficacy of camelina mutant lines (M6 progenies) as superior feedstock. The biodiesel yield from camelina oil and jatropha oil was 96% and 92%, respectively. The gas chromatographic analysis using flame ionization detector (GC-FID) showed that mutant camelina oil biodiesel sample contain major amount of oleic acid (46.54 wt%) followed by linolenic acid (20.41 wt%) and linoleic acid (16.55 wt%). Jatropha biodiesel found to contain major amount of oleic acid (45.03 wt%) followed by linoleic acid (25.07 wt%) and palmitic acid (19.31 wt%). The fuel properties of produced biodiesel were found in good agreement with EN14214 and ASTM D6751 standards. The mutant camelina lines biodiesel have shown comparatively better fuel properties than jatropha. It has shown low saponification value (120.87–149.35), high iodine value (130.2–157.9) and better cetane number (48.53–59.35) compared to jatropha biodiesel which have high saponification value (177.39–198.9), low iodine value (109.7–123.1) and lesser cetane number (47.76–51.26). The results of the present student of utilizing novel mutant camelina lines for biodiesel production are quite promising and are helpful in turning out the outcomes of the previous studies suggesting that C. sativa biodiesel presents serious drawbacks for biodiesel applications.

Background COVID-19 has posed unique challenges for adolescents in different dimensions of their life including education, home and social life, mental and physical health. Whether the impact is positive or negative, its significance on the overall shaping of adolescents’ lives cannot be overlooked. The aim of the present study was to explore impacts of the pandemic on the adolescents’ everyday lives in Pakistan. Methods Following ethical approval, this cross-sectional study was conducted through September to December, 2020 via an online survey on 842 adolescents with the mean age of 17.14 ± SD 1.48. Socio-demographic data and Epidemic Pandemic Impact Inventory-Adolescent Adaptation (EPII-A) was used to assess the multi-dimensional effects of the pandemic. Results Among the 842 participants, 84% were girls. Education emerged as the most negatively affected Pandemic domain (41.6–64.3%). Most of the adolescents (62.0–65.8%) had reported changes in responsibilities at home including increased time spent in helping family members. Besides, increase in workload of participants and their parents was prominent (41.8% & 47.6%). Social activities were mostly halted for approximately half (41–51%) of the participants. Increased screen time, decreased physical activity and sedentary lifestyle were reported by 52.7%, 46.3% and 40.7% respectively. 22.2–62.4% of the adolescents had a direct experience with quarantine, while 15.7% experienced death of a close friend or relative. Positive changes in their lives were endorsed by 30.5–62.4% respondents. Being male and older adolescents had significant association with negative impact across most domains (pConclusions Results have shown that COVID-19 exert significant multidimensional impacts on the physical, psycho-social, and home related domains of adolescents that are certainly more than what the previous researches has suggested.

BackgroundCOVID-19 has posed unique challenges for adolescents in different dimensions of their life including education, home and social life, mental and physical health. Whether the impact is positive or negative, its significance on the overall shaping of adolescents' lives cannot be overlooked. The aim of the present study was to explore impacts of the pandemic on the adolescents' everyday lives in Pakistan.MethodsFollowing ethical approval, this cross-sectional study was conducted through September to December, 2020 via an online survey on 842 adolescents with the mean age of 17.14 ± SD 1.48. Socio-demographic data and Epidemic Pandemic Impact Inventory-Adolescent Adaptation (EPII-A) was used to assess the multi-dimensional effects of the pandemic.ResultsAmong the 842 participants, 84% were girls. Education emerged as the most negatively affected Pandemic domain (41.6-64.3%). Most of the adolescents (62.0-65.8%) had reported changes in responsibilities at home including increased time spent in helping family members. Besides, increase in workload of participants and their parents was prominent (41.8% & 47.6%). Social activities were mostly halted for approximately half (41-51%) of the participants. Increased screen time, decreased physical activity and sedentary lifestyle were reported by 52.7%, 46.3% and 40.7% respectively. 22.2-62.4% of the adolescents had a direct experience with quarantine, while 15.7% experienced death of a close friend or relative. Positive changes in their lives were endorsed by 30.5-62.4% respondents. Being male and older adolescents had significant association with negative impact across most domains (pConclusionsResults have shown that COVID-19 exert significant multidimensional impacts on the physical, psycho-social, and home related domains of adolescents that are certainly more than what the previous researches has suggested.

Analytical characterization of pure, blended watermelon (Citrulluslanatus) oil and impact of blending on oxidative stability was investigated. Watermelon oil was added with mango (Mangiferaindica L.) kernel oil at four different concentrations 5, 10, 15 and 20% (B1, B2, B3 and B4) and referenced with a control (100% watermelon oil). All the blends were stored in transparent PET bottles at ambient temperature (25-28oC) for 3 months; storage stability was assessed at the interval of 1 month. Free fatty acid, unsaponifiable matter, saponification value, refractive index and iodine value of watermelon seed oil and mango kernel oil was 1.38%, 0.34%; 0.71%, 1.68%; 198, 193; 1.468, 1.457; 107.51, 54.62, respectively. The α tocopherol content of watermelon oil, mango kernel oil, B1, B2, B3 and B4 was 127.49, 205.44, 135.24, 144.52, 156.81 and 169.34 mg/kg. δ tocopherol in watermelon oil, mango kernel oil, B1, B2, B3 and B4 was 55.26, 34.81, 53.64, 51.27, 50.14 and 48.23 mg/kg. Concentration of linoleic acid decreased from 50.78% to 30.17% when 40% mango kernel oil was added to watermelon oil. Oleic acid increased from 22.89% in watermelon oil to 25.19%, 28.84% and 30.64% in B1, B2, B3 and B4. The increase in peroxide value of watermelon oil, B1, B2, B3 and B4 was 10.07, 9.56, 7.62, 5.17 and 2.87 (meqO2/kg) in a time dependent manner. Induction period of pure watermelon oil was less than mango kernel oil and blends. These results suggest that chemical characteristics and oxidative stability of pure watermelon oil can be improved by blending with mango kernel oil.

Background: In poor urban Pakistan, private GP clinics lack adequate services to promote early child development (ECD) care. A clinic-based contextualised ECD intervention was developed for quarterly tool-assisted counselling of mothers. Aim: To explore the experience and implementation of ECD intervention by the private care providers and clients, for further adaptation for scaling of quality ECD care, at primary level private healthcare facilities in Pakistan. Design & setting: A mixed methods approach using quantitative records review and qualitative interviews at poor urban clinics in Rawalpindi and Lahore, Pakistan. Method: Quantitative data from study-specific records were reviewed for 1242 mother–child pairs registered in the intervention. A total of 18 semi-structured interviews with clinic staff, mothers, and research staff were conducted at four clinics. The interviews were audiorecorded and transcribed verbatim. Results: District Health Office (DHO) support allowed transparent and effective selection and training of clinic providers. Public endorsement of ECD care at private clinics and the addition of community advocates promoted ECD care uptake. Clinic settings were found feasible for clinic assistants, and acceptable to mothers, for counselling sessions. Mothers found ECD counselling methods more engaging compared to the usual care provided. Conclusion: In poor urban settings where public health care is scarce, minimal programme investment on staff training and provision of minor equipment can engage private clinics effectively in delivering ECD care.