Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

A cell's ability to survive and to evade cancer is contingent on its ability to retain genomic integrity, which can be seriously compromised when nucleic acid phosphodiester bonds are disrupted. DNA Ligase 1 (LIG1) plays a key role in genome maintenance by sealing single-stranded nicks that are produced during DNA replication and repair. Autosomal recessive mutations in a limited number of individuals have been previously described for this gene.

A unique STK4 mutation truncating only the C-terminal SARAH domain results in a mild clinical phenotype despite severe T cell lymphopenia: Case report.

Mutations in STK4 (MST1) are implicated in a form of autosomal recessive combined immunodeficiency, resulting in recurrent infections (especially Epstein-Barr virus viremia), autoimmunity, and cardiac malformations. Here we report a patient with an atypically mild presentation of this disease, initially presenting with severe T cell lymphopenia (< 500 per mm) and intermittent neutropenia, but now surviving well on immunoglobulins and prophylactic antibacterial treatment. She harbors a unique STK4 mutation that lies further downstream than all others reported to date.

Selection of Robotic Bariatric Surgery Candidates: a Nationwide Analysis.

Introduction: This study aims to identify risk factors associated with 30-day major complications, readmission, and delayed discharge for patients undergoing robotic bariatric surgery.

Methods: From the metabolic and bariatric surgery and accreditation quality improvement program (2015-2018) datasets, adult patients who underwent elective robotic bariatric operations were included. Predictors for 30-day major complications, readmission, and delayed discharge (hospital stay ≥ 3 days) were identified using univariable and multivariable analyses.

Implementation of the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program and outcomes of bariatric surgery.

Introduction: This study evaluates the performance of bariatric surgery prior to and after the implementation of Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP).

Methods: The eras prior to (2007-2015) and after (2016-2018) the transition to MBSAQIP were compared for patients, operations and outcomes using adjusted logistic regression estimates.

Results: Thirty-day surgical (6%vs.

Multiplexed single-cell analysis reveals prognostic and nonprognostic T cell types in human colorectal cancer.

Clinical outcomes in colorectal cancer (CRC) correlate with T cell infiltrates, but the specific contributions of heterogenous T cell types remain unclear. To investigate the diverse function of T cells in CRC, we profiled 37,931 T cells from tumors and adjacent normal colon of 16 patients with CRC with respect to transcriptome, TCR sequence, and cell surface markers. Our analysis identified phenotypically and functionally distinguishable effector T cell types.

Minimally invasive versus open duodenal switch: a nationwide retrospective analysis.

Introduction: This study aims to characterize the variability in clinical outcomes between open, laparoscopic, and robotic Duodenal Switch (DS).

Methods: From the Metabolic and Bariatric Surgery and Accreditation Quality Improvement Program, patients who underwent DS (2015-2018) were identified. Open DS was compared to laparoscopic and robotic approaches with for patients factors, perioperative characteristics, and 30-day postoperative outcomes.

Do Saudi parents have sufficient awareness of pediatric eye diseases in Riyadh?

Purpose: The current study aimed to assess Saudi parents' awareness regarding pediatric eye diseases that can be screened and treated.

Methods: A cross-sectional study was conducted in Riyadh, Saudi Arabia. Targeted participants were selected randomly.

Robotic Duodenal Switch Is Associated with Outcomes Comparable to those of Laparoscopic Approach.

Introduction/purpose: This study evaluates the outcomes of robotic duodenal switch (RDS) when compared to conventional laparoscopy (LDS).

Materials And Methods: Using the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program (MBSAQIP), patients who underwent RDS were compared to those of LDS (2015-2018) for perioperative characteristics and thirty-day postoperative outcomes. Operative complexity, complications, and resource utilization trends were plotted over the included years for the two approaches.

Stratification of Readmission after Bariatric Surgery by Day of Post-Discharge Presentation.

Introduction/purpose: Reasons of postoperative readmissions may vary based on the timing of rehospitalization. This study characterizes predictors and causes for readmission after bariatric surgery on day-to-day basis after discharge.

Materials And Methods: Using the Metabolic and Bariatric Surgery Accreditation and Quality Improvement Program data, patients who underwent Roux-en-Y gastric bypass or sleeve gastrectomy were identified.

Short-term outcomes after self-expandable metal stent insertion for obstructing colon cancer: a retrospective cohort study.

Background: Self-expanding metal stents (SEMS) are used as a bridge to surgery for colon cancer patients as an alternative to emergency surgery. Currently, there is a paucity of literature from Saudi Arabia on the preoperative usage of SEMS.

Objective: Determine whether SEMS are associated with a higher rate of complications.

Substance use disorders in Saudi Arabia: a scoping review.

Background: Substance use disorders (SUD) are mental health conditions that arise from chronic drug use. There is an increased recognition of this problem in Saudi Arabia.

Objective: Conduct a comprehensive review of published literature on SUD to identify knowledge gaps and to guide future research.

Gaming addiction and perceived stress among Saudi adolescents.

Introduction: Adolescents (age: 10-19 years) make up 15% of the Saudi population and have easy access to electronic gadgets and the Internet, yet data on gaming addiction among adolescents are negligible. We aimed to determine the prevalence of gaming addiction and its association with stress among Saudi school students.

Methods: In this cross-sectional survey, 2675 school students (grades 7-12) from 40 randomly selected schools in four main cities of Al-Qassim province in Saudi Arabia participated.

PD-L1 is overexpressed on breast cancer stem cells through notch3/mTOR axis.

The T-cell inhibitory molecule PD-L1 is expressed on a fraction of breast cancer cells. The distribution of PD-L1 on the different subpopulations of breast cancer cells is not well-defined. Our aim was to study the expression level of PD-L1 on breast cancer stem-like (CSC-like) cells and their differentiated-like counterparts.

Statistical Process Control (SPC) to drive improvement in length of stay after colorectal surgery.

Background: Novel quality improvement(QI) methods are needed to optimize healthcare costs and value. Our goal was to determine if Statistical Process Control(SPC), an industrial QI tool, could transform length of stay(LOS) into a process measure, identify outliers, and their impact on surgical outcomes.

Methods: SPC was performed on an institutional colorectal resection database 1/1/13-5/1/2018 to identify outliers and compare outcome variables across outliers and non-outliers.

Sleep duration is associated with depressive symptoms among expatriate nurses.

Background: There is limited data on sleep and its impact on mental health among expatriate nurses in Saudi Arabia. This study aimed to assess the association between sleep duration and symptoms of depression among expatriate nurses.

Methods: Nurses in government healthcare facilities in Al-Qassim, Saudi Arabia responded to an electronic survey (n = 977) on demography, lifestyle, job features, and symptoms of depression (Depression Anxiety Stress Scale 21).

Sustained positive impact of ACS-NSQIP program on outcomes after colorectal surgery over the last decade.

Background: We evaluate trends in outcomes after colorectal resection over the decade of the introduction of ACS-NSQIP as well as of targeted-colectomy information.

Study Design: From 2007 to 2016, patients undergoing non-emergent colorectal procedures were included. Demographics, operative complexity (American Society of Anesthesiologists and wound classes); complications, early (<5 days) discharge and mortality were plotted over years.

Job insecurity, fear of litigation, and mental health among expatriate nurses.

The objective was to assess whether job insecurity and fear of litigation were correlates of depression, anxiety, and stress among expatriate nurses in Saudi Arabia. The participants included 977 expatriate nurses working in Al-Qassim, Saudi Arabia who completed an online survey that assessed depression, anxiety, and stress (using DASS-21) as well as demography, lifestyle, and job characteristics. Mean age was 32 years and 60% of nurses were from India/Pakistan.

Alvimopan Significantly Reduces Length of Stay and Costs Following Colorectal Resection and Ostomy Reversal Even Within an Enhanced Recovery Protocol.

Background: Alvimopan accelerates GI recovery after colorectal resection. Data on real-world cost-effectiveness have been mixed.

Objective: This study aimed to evaluate if adding alvimopan to an enhanced recovery pathway reduces length of stay.

Association of cumulative job dissatisfaction with depression, anxiety and stress among expatriate nurses in Saudi Arabia.

Aims: We aimed to (a) determine the prevalence of depression, anxiety and stress among expatriate nurses in Saudi Arabia, and (b) assess how dissatisfaction with salary, workload and teamwork, individually and in combination, was associated with those conditions.

Background: Prevalence estimates for depression, anxiety and stress among nurses are higher than those in the general population. Available data on the mental health of expatriate nurses are limited.

Exploring the Differences Between Early and Traditional Diet Advancement in Postoperative Feeding Outcomes in Patients With an Ileostomy or Colostomy.

Background: We assessed the differences in postoperative feeding outcomes when comparing early and traditional diet advancement in patients who had an ostomy creation.

Methods: At a U.S.

Mental Health Status of Expatriate Nurses in Northcentral Saudi Arabia.

Mental health status may vary by nationality among expatriate workers; no conclusive data is available in Saudi Arabia. We invited expatriate nurses employed in governmental hospitals in Al-Qassim, Saudi Arabia to fill out an electronic survey that contained questions on demography (including nationality), lifestyle, job, depression, anxiety, and stress (assessed with DASS-21 scale). We categorized each outcome into normal, mild to moderate, and severe, and used adjusted multinomial logistic regressions for analyses.

ACS-NSQIP risk calculator predicts cohort but not individual risk of complication following colorectal resection.

Objective: Compare the ACS-NSQIP risk calculator with institutional risk for colorectal surgery.

Methods: Actual and predicted outcomes were compared for both cohort and individuals.

Results: For the cohort, the risk calculator was accurate for 7/8 outcomes; there were more serious complications than predicted (19.

Epidural analgesia in the era of enhanced recovery: time to rethink its use?

Background: Previous assessments of the impact of epidural analgesia (EA) on outcomes after colorectal surgery were related to the period before widespread implementation of the enhanced recovery after surgery (ERAS) protocols. This study evaluates the impact of EA on postoperative recovery after colectomy using recent multicenter data.

Methods: Patients who underwent elective colectomy from the American College of Surgeons (ACS) National Surgical Quality Improvement Program (NSQIP) data (2014-2015) were identified.

Readmissions after colorectal surgery: not all are equal.

Purpose: This study aims to assess factors associated with preventable readmissions after colorectal resection.

Methods: All readmissions following colorectal resection from May 2013 to May 2016 at an academic medical center were reviewed. Readmissions that could be prevented were identified.

Alvimopan, Regardless of Ileus Risk, Significantly Impacts Ileus, Length of Stay, and Readmission After Intestinal Surgery.

Background: Previous analyses evaluating alvimopan included patients at varying risk for ileus after intestinal resection, which may have precluded its widespread adoption. We assess the early and delayed effects of alvimopan in patients stratified by risk for ileus after intestinal and colon resection.

Methods: From the Premier Perspective database, patients with elective small and large bowel resections from 2012 to 2014 were identified.