A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

BACKGROUND: Severe combined immunodeficiency (SCID) is a life-threatening genetic disorder caused by critical defects of the immune system. Almost all cases are lethal if not treated within the first two years of life. Early diagnosis and intervention are thus essential for improving patient outcomes. In 2013, Ontario became the first Canadian province to perform newborn screening (NBS) for SCID by T cell receptor excision circles (TRECs) analysis, a surrogate marker of thymic function and lymphocyte maturation. METHODS: This retrospective study reports on nearly 10 years of NBS for SCID at a quaternary referral centre. RESULTS: From August 2013 to April 2023, our centre's densely populated catchment area flagged 162 newborns with low TRECs levels, including 10 cases with SCID. Follow-up revealed other causes of low TRECs, including non-SCID T cell lymphopenia (secondary/reversible or idiopathic causes, and syndromic conditions) and prematurity. A small number of cases with normal repeat TRECs levels and/or T cell subsets were also flagged. Province-wide data from around this period revealed at least 24 diagnosed cases of SCID or Leaky SCID. CONCLUSIONS: This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.

Assessing the Anxiety and Knowledge about Monkeypox Virus: A Cross-Sectional Cohort Study.

Introduction Recent cases of human monkeypox virus (MPXV) infections have raised global health concerns, as sporadic instances have occurred in various regions, prompting investigations into the potential for increased transmission. This underscores the importance of effective communication strategies in addressing the emerging challenges associated with this viral ailment. The study was conducted to understand public anxiety and knowledge related to MPXV infection, particularly in the context of emerging infectious diseases. Our aims included assessing anxiety levels and knowledge about monkeypox infection among the Saudi population, as well as their willingness to receive vaccinations if available. Methods A cross-sectional cohort study among the adult Saudi population was conducted. A questionnaire with four sections, including demographic data and disease knowledge, comprised optimized questions of the standard generalized anxiety disorder assessment (GAD-7) as well as questions related to acceptance of getting the vaccine if it could be afforded. Results Out of a total of 5298 participants, 927 (17.5%) showed different degrees of GAD-7 anxiety. Females showed a significantly higher rate of anxiety (487/2189, 22.2%) than males (440/3109, 14.2%). People aged 46 to 55 and >55 years old showed significantly higher rates of anxiety (30.7% and 27.2%). There is an overall decrease in knowledge and awareness about the MPXV. Interestingly, 59% of the participants admitted that they would get the MPXV vaccine if it were made available. There was a positive correlation between the anxiety level and the response of people toward the MPXV vaccine if it were available. Conclusion Our study underscores a significant level of anxiety and a notable lack of awareness concerning MPXV infection. Although a substantial number of participants expressed their willingness to receive an MPXV vaccine, our findings emphasize the pressing need for improved public education and awareness campaigns to alleviate anxiety levels and enhance understanding of this infectious disease. This effort is crucial for mitigating health concerns and facilitating well-informed decision-making among the Saudi population.

Prevalence and Antibiogram Pattern of Klebsiella pneumoniae in a Tertiary Care Hospital in Makkah, Saudi Arabia: An 11-Year Experience.

Infectious disease is one of the greatest causes of morbidity and mortality worldwide, and with the emergence of antimicrobial resistance, the situation is worsening. In order to prevent this crisis, antimicrobial resistance needs to be monitored carefully to control the spread of multidrug-resistant bacteria. Therefore, in this study, we aimed to determine the prevalence of infection caused by Klebsiella pneumoniae and investigate the antimicrobial profile pattern of K. pneumoniae in the last eleven years. This retrospective study was conducted in a tertiary hospital in Makkah, Saudi Arabia. Data were collected from January 2011 to December 2021. From 2011 to 2021, a total of 61,027 bacterial isolates were collected from clinical samples, among which 14.7% (n = 9014) were K. pneumoniae. The antibiotic susceptibility pattern of K. pneumoniae revealed a significant increase in the resistance rate in most tested antibiotics during the study period. A marked jump in the resistance rate was seen in amoxicillin/clavulanate and piperacillin/tazobactam, from 33.6% and 13.6% in 2011 to 71.4% and 84.9% in 2021, respectively. Ceftazidime, cefotaxime, and cefepime resistance rates increased from 29.9%, 26.2%, and 53.9%, respectively, in 2011 to become 84.9%, 85.1%, and 85.8% in 2021. Moreover, a significant increase in the resistance rate was seen in both imipenem and amikacin, with an average resistance rate rise from 6.6% for imipenem and 11.9% for amikacin in 2011 to 59.9% and 62.2% in 2021, respectively. The present study showed that the prevalence and drug resistance of K. pneumoniae increased over the study period. Thus, preventing hospital-acquired infection and the reasonable use of antibiotics must be implemented to control and reduce antimicrobial resistance.

Venous Thromboembolism Risk Assessment Models in Plastic Surgery: A Systematic Review and Meta-Analysis.

Postoperative venous thromboembolism (VTE) is the most common complication of plastic surgery procedures. Diverse risk assessment models (RAMs) exist to stratify patients by VTE risk, but due to a lack of high-quality evidence and heterogeneity in RAM data, there is no recommendation regarding RAM that can be used for plastic surgery patients. This study compares the reliability and outcomes of Caprini and American Society of Anesthesiologists (ASA) physical status classification RAMs used in plastic surgery to help surgeons stratify the risk of VTE. Methods: MEDLINE and Embase databases were searched between February 2010 and December 2021. All published English articles that report the incidence of VTE stratified by a RAM among patients who underwent plastic surgery were included. The results of the presented meta-analysis were pooled using a random-effects model. Results: The database search revealed 809 articles, out of which eight studies (n = 1,348,606) were eligible. Out of the eight studies, six utilized the Caprini score, and three utilized ASA score. Super-high-risk patients were significantly more likely to present with VTE than their high-risk [odds ratio (OR), 2.92; 95% confidence interval (CI), 1.26-6.78], medium-risk (OR, 5.29; 95% CI, 2.38-11.79), or low-risk counterparts (OR, 10.00; 95% CI, 2.32-43.10) at Caprini score. High-risk patients in ASA score showed significant increase in VTE incidents (OR, 2.72; 95% CI, 1.10-6.72). Conclusions: Both Caprini and ASA RAMs showed compelling evidence of efficacy in our study. However, the Caprini RAM is more predictive of postoperative VTE incidents in high-risk plastic surgery patients than the ASA grading system.

Association between stuttering and psychosocial complications in Saudi Arabian individuals: A pilot study.

Background: Stuttering is a multifaceted speech disorder that affects the interpersonal communication. It has a significant psychosocial impact on individuals who stutter and on their families. Stuttering is associated with substantial psychosocial morbidity, including social or generalized anxiety, stigmatization or discrimination, impaired self-image, and poor quality of life. Psychosocial morbidity, such as the one reported among stuttering individuals, may provoke suicidal ideation that varies with gender, age, geographic region, and psychosocial reality. The present research aimed to determine the association between stuttering and psychosocial complications in Saudi Arabian individuals. Materials and Methods: This study targeted a total of 107 male patients with stuttering. Only 59 of them fulfilled both inclusion and exclusion criteria. The researchers formulated a valid questionnaire to obtain quantifiable data for analysis. The questionnaire consisted of 76 questions spanning various domains. Following the data collection, a quantitative analysis was carried out. Results: A total of 79.5% of the participants were adolescents or young adults between the ages of 16 and 26. Among them, 17.8% had a later onset of stuttering. The age of onset tended to be higher than 5 years, with over 80% of respondents reporting an age of onset in the last 5 years of their age. Among the participants, 57.6% reported a positive family history of stuttering. Conclusions: The present study reports that patients who stutter (PWS) are at a higher risk of developing negative thoughts leading to suicidal attempts due to social anxiety and depression. Therefore, future studies should be designed to establish the relationship between stuttering and suicidal thoughts in order to establish policies that may improve the quality of life of those who stutter.