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Tubulinopathies are associated with malformations of cortical development but not Walker–Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker–Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic. Clinical assessment of a progressive neurological disorder of unknown aetiology found a macrocephalic head and markedly hypoplastic genitalia with a micropenis. Neurological examination showed generalized hypotonia with very rare spontaneous movements, hypotonia-induced respiratory insufficiency and ventilator dependence, and generalized myoclonus intensifying during manipulation. With clinical features of hypotonia, lissencephaly, and brain malformations, Walker–Warburg Syndrome was suspected; however, eye anomalies were absent. Genetic trio analysis via whole-exome sequencing only identified a novel de novo mutation in the TUBA1A gene (NM_006009.4:c.848A>G; NP_006000.2:p.His283Arg) in the infant, who died at 2 months of age, as the likely cause. We report a previously unpublished, very rare heterozygous TUBA1A mutation with clinical features of macrocephaly and hypoplastic genitalia which have not previously been associated with the gene. The absence of eye phenotypes or mutations in Walker–Warburg-associated genes confirm this as not a new presentation of Walker–Warburg Syndrome but a novel TUBA1A tubulinopathy for neonatologists to be aware of. [ABSTRACT FROM AUTHOR]

Sudden infant death syndrome (SIDS) occurs more often in male than in female infants, suggesting involvement of the X‐chromosome. Histopathological studies have suggested that altered expression of the Neurokinin‐1 receptor may also play a role in the pathogenesis of SIDS. It was hypothesised that genetic variants in three X‐chromosome‐encoded microRNA (miRNA/miR), known to down‐regulate expression of the Neurokinin‐1 receptor, may contribute to SIDS. Aim: To identify sequence variants in the miRNAs within a study cohort (27 cases of SIDS and 28 controls) and determine if there was a difference in the frequencies in male and female SIDS infants. Methods: Genomic DNA prepared from stored blood spots was amplified and sequenced to identify genetic variants in miR500A, miR500B and miR320D2. Results: No novel variants in the miRNAs were identified in our study cohort. We identified one known single‐nucleotide polymorphism (SNP) in miR320D2: rs5907732 G/T, in both cases and controls. No significant difference in the SNP frequency was observed between male and female SIDS cases. Conclusion: This pilot study suggests that sequence variants in three miRNAs do not contribute to the reported higher prevalence of SIDS in male infants and do not contribute to the pathogenesis of SIDS in our cohort. [ABSTRACT FROM AUTHOR]

Improvements in wireless technologies and improved advancement in smartphones have led to an increasing trend in mobile banking activities on a global scale. The Covid-19 outbreak has shifted the focus of people to adopt the E-Wallet services due to various reasons. This empirical study sought to investigate the usage of mobile e-wallet services via determining factors that influence the velocity of using E-wallet services in Pakistan. A survey questionnaire was conducted over 210 sample sizes from different students of Universities of Pakistan. Results were subsequently analyzed by the SPSS package and SEM-PLS. The findings indicate that Perceived risk is mediated by the perceived usefulness and government support to adopt the E-Wallet services (Usage Intention) even after the Covid-19 ends. This study uses the Technology Acceptance Model (TAM) by incorporating external factors that have never been used in this manner all at once, including Perceived risk, perceived usefulness, and government support. The results may provide further understandings to E-wallet tech and digital banking companies to develop strategies and engineers to design and implement mobile wallet services to produce higher consumer loyalty more improved services contextualizing the given contribution and findings. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the various factors leading to conversion of laparoscopic cholecystectomy to open cholecystectomy. Study Design: Comparative cross-sectional study. Place and Duration of Study: Pak Emirates Military Hospital Rawalpindi, from May 2020 to Sep 2021. Methodology: This study was conducted on 200 patients who underwent laparoscopic cholecystectomy for any benign pathology during the study period. Data was collected for all the patients who required conversion of surgical procedure from laparoscopic to open cholecystectomy. Demographic and clinical risk factors were associated with conversion of procedure in the study participants. Results: Out of 200 patients included in the final analysis 67 (33.5%) were male and 133 (66.5%) were female. Mean age of patients put who underwent laparoscopic surgery for benign gall bladder pathologies in our study was 43.46 ± 8.337 years. Gall stones were the commonest clinical condition for which laparoscopic cholecystectomy was done. Out of 26 (13%) patients underwent conversion of laparoscopic to open surgery. It was revealed that frozen Calots triangle (p-value-0.033), empyema gall bladder (p-value-0.018) and previous abdominal surgeries (p-value-0.013) were significantly related to conversion of laparoscopic to open surgery Conclusion: Conversion rate of laparoscopic to open surgery for cholecystectomy was high in our study population. Patients who had previous abdominal surgeries or presence of frozen Calots triangle and empyema gall bladder were more at risk of conversion of surgery. [ABSTRACT FROM AUTHOR]

Multipath (MP) and/or Non Line-Of-Sight (NLOS) reception remains a potential vulnerability to satellite-based positioning and navigation systems in high multipath environments, such as an urban canyon. In such an environment, satellite signals are reflected, scattered or faded, and sometimes completely blocked by roofs and walls of high-rise buildings, flyover bridges, complex road structures, etc. making positioning and navigation information inaccurate, unreliable, and largely unavailable. The magnitude of the positioning error depends on the satellite visibility, geometric distribution of satellites in the sky, and received signal quality and characteristics. The quality of the received signal (i.e. its statistical characteristics) can significantly vary in different environments and these variations can reflect in signal strength or power, range measurements (i.e. path delay and phase difference), and frequency, all of which distort the correlation curve between the received signal and receiver-generated replicas, resulting in range errors of tens of meters. Therefore, in order to meet stringent requirements defined for the Standard Positioning Service (SPS), the characterization of distortions that could significantly affect a Global Navigation Satellite System (GNSS) signal is essentially important. The scope of this paper is to detect possible imperfections/deviations in the GNSS signal characteristics that can occur due to MP or NLOS reception and analyze its effects. For this purpose, analysis of fading patterns in received signal strength (i.e. Carrier-to-Noise Ratio and strength fluctuations) is carried out in both clear LOS and high MP environment and then its impact on satellite lock state (i.e. tracking) is assessed. Furthermore, phase fluctuations and range residuals are computed to analyze the effects of path delays. The results show that significant variations can occur in GNSS signal characteristics in the MP environment that may result in loss of lock event and inaccurate/faulty range measurements. [ABSTRACT FROM AUTHOR]

Objectives: Considering the therapeutic potential of honey and Nigella sativa (HNS) in coronavirus disease 2019 (COVID-19) patients, the objective of the study is defined to evaluate the prophylactic role of HNS.Trial Design: The study is a randomized, placebo-controlled, adaptive clinical trial with parallel group design, superiority framework with an allocation ratio of 1:1 among experimental (HNS) and placebo group. An interim analysis will be done when half of the patients have been recruited to evaluate the need to adapt sample size, efficacy, and futility of the trial.Participants: All asymptomatic patients with hospital or community based COVID-19 exposure will be screened if they have had 4 days exposure to a confirmed case. Non-pregnant adults with significant exposure level will be enrolled in the study High-risk exposure (<6 feet distance for >10min without face protection) Moderate exposure (<6 feet distance for >10min with face protection) Subjects with acute or chronic infection, COVID-19 vaccinated, and allergy to HNS will be excluded from the study. Recruitment will be done at Shaikh Zayed Post-Graduate Medical Institute, Ali Clinic and Doctors Lounge in Lahore (Pakistan).Intervention and Comparator: In this clinical study, patients will receive either raw natural honey (0.5 g) and encapsulated organic Nigella sativa seeds (40 mg) per kg body weight per day or empty capsule with and 30 ml of 5% dextrose water as a placebo for 14 days. Both the natural products will be certified for standardization by Government College University (Botany department). Furthermore, each patient will be given standard care therapy according to version 3.0 of the COVID-19 clinical management guidelines by the Ministry of National Health Services of Pakistan.Main Outcomes: Primary outcome will be Incidence of COVID-19 cases within 14 days of randomisation. Secondary endpoints include incidence of COVID-19-related symptoms, hospitalizations, and deaths along with the severity of COVID-19-related symptoms till 14th day of randomization.Randomisation: Participants will be randomized into experimental and control groups (1:1 allocation ratio) via the lottery method. There will be stratification based on high risk and moderate risk exposure.Blinding (masking): Quadruple blinding will be ensured for the participants, care providers and outcome accessors. Data analysts will also be blinded to avoid conflict of interest. Site principal investigator will be responsible for ensuring masking.Numbers To Be Randomised (sample Size): 1000 participants will be enrolled in the study with 1:1 allocation.Trial Status: The final protocol version 1.4 was approved by institutional review board of Shaikh Zayed Post-Graduate Medical Complex on February 15, 2021. The trial recruitment was started on March 05, 2021, with a trial completion date of February 15, 2022.Trial Registration: Clinical trial was registered on February 23, 2021, www.clinicaltrials.gov with registration ID NCT04767087 .Full Protocol: The full protocol is attached as an additional file, accessible from the Trials website (Additional file 1). With the intention of expediting dissemination of this trial, the conventional formatting has been eliminated; this Letter serves as a summary of the key elements of the full protocol. The study protocol has been reported in accordance with the Standard Protocol Items: Recommendations for Clinical Interventional Trials (SPIRIT) guidelines. [ABSTRACT FROM AUTHOR]