Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3′ splice acceptor site of intron 2

Primary congenital glaucoma (PCG) causes blindness in early age. It has an autosomal recessive pattern of inheritance, hence is more prevalent in populations with frequent consanguineous marriages that occur in the Pakistani population. Mutations in the CYP1B1 gene are commonly associated with PCG. The aim of the present study was to identify genetic mutations in the CYP1B1 gene in PCG cases belonging to 38 Pakistani families. DNA was extracted using blood samples collected from all enrolled patients, their available unaffected family members and controls. Direct sequencing of the CYP1B1 gene revealed a novel 3' splice acceptor site causative variant segregating in an autosomal recessive manner in a large consanguineous family with four PCG‐affected individuals. The novel variant was not detected in 93 ethnically matched controls. Furthermore, four already reported mutations, including p.G61E, p.R355X, p.R368H, and p.R390H were also detected in patients belonging to nine different families. All identified causative variants were evaluated by computational programs, that is, SIFT, PolyPhen‐2, and MutationTaster. Pathogenicity of the novel splice site variant identified in this study was analyzed by Human Splicing Finder and MaxEntScan. Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients. Identification of this novel 3' splice acceptor site variant in intron 2 is the first report for the CYP1B1 gene contributing to genetic heterogeneity of disease.     

Recent progress on the diagnosis of 2019 Novel Coronavirus

Coronavirus disease 2019 (COVID‐19) caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) has become a global pandemic. Therefore, convenient, timely and accurate detection of SARS‐CoV‐2 is urgently needed. Here, we review the types, characteristics and shortcomings of various detection methods, as well as perspectives for the SARS‐CoV‐2 diagnosis. Clinically, nucleic acid‐based methods are sensitive but prone to false‐positive. The antibody‐based method has slightly lower sensitivity but higher accuracy. Therefore, it is suggested to combine the two methods to improve the detection accuracy of COVID‐19.     

Bored and online: Reasons for using social media,problematic social networking site use,and behavioral outcomes across the transition from adolescence to emerging adulthood

IntroductionThe current study examined motivations for social networking site use across three years during the transition from late adolescence to emerging adulthood. While research has been conducted examining reasons for social networking site usage and behavior, the clear majority have focused on samples of undergraduate college students and are cross-sectional.MethodsChanges in motivations for using social networking sites were examined in relation to problematic social networking site use and several behavioral and mental health outcomes in a sample of adolescents over three years.ResultsUsing social networking sites to connect with others was relatively stable over a three-year period. However, using social networking sites to seek information increased from late adolescence to emerging adulthood and was not related to any negative outcomes across three years. Using social networking sites to alleviate boredom also increased over time. Initial levels of social media use to alleviate boredom were associated with problematic social networking site use, financial stress, anxiety, and empathy at year three. Increases in using social networking sites to socially connect over time was related to problematic social networking site use, anxiety, delinquency, and empathy at year three. Using social networking sites for any reason was not related to depressive symptoms over three years.ConclusionsThe current study supports the growing body of literature suggesting that using social networking sites to alleviate boredom and socially connect, may place individuals at increased risk for developing pathological tendencies and patterns of behavior towards social networking sites.     

Analysis of the evidence of related factors,associated conditions and at-risk populations of the NANDA-I nursing diagnosis insomnia

ObjectivesTo summarize evidence in the literature on the predictors of insomnia in adults and to determine correspondences with diagnostic indicators of the NANDA-I diagnosis Insomnia.MethodsAn integrative review performed in Pubmed, Virtual Health Library and CINAHL. Forty-eight articles published in Portuguese, English or Spanish from 2011 to 2018 were included. An analysis of correspondence between the predictors and the NANDA-I related factors and associated conditions for Insomnia was performed.ResultsThere was a correspondence of the predictors found in this review with NANDA-I related factors and associated conditions, except for grieving and frequent naps during the day. Smoking, caffeine intake, dysfunctional sleep beliefs, obesity and caregiver role strain are possible new related factors; chronic illness is a possible new associated condition and individuals going through changes in marital status, economically disadvantaged, female gender, increasing age and night shift worker are possible new at-risk populations.ConclusionThe predictors of insomnia that had a correspondence with the NANDA-I elements can support the evidence base of the nursing diagnosis. The predictors found without a correspondence with the diagnosis can be considered for inclusion in the NANDA-I classification, thereby supporting the clinical reasoning of nurses and students.