Impact of Social Support and Self-Efficacy on Activity of Daily Living among Post-Stroke Patients in Saudi Arabia: A Cross-Sectional Study.

This study employed a cross-sectional design to explore the impact of social support and self-efficacy on activity of daily living (ADL) among post-stroke patients in Saudi Arabia and investigate the mediating role of self-efficacy. Data were collected from 158 post-stroke patients across six healthcare facilities in three regions of Saudi Arabia using convenience sampling, between February 2023 and July 2023. The analysis included descriptive statistics, variance analysis, and linear regression using bootstrap methods. PROCESS Macro was used for the mediation model. This study revealed that most participants had high ADL, social support, and self-efficacy levels. Significant negative associations were found between ADL and age (p < 0.001), time since stroke (p = 0.009), and stroke history (p < 0.001), while significant positive associations were observed with educational background (p = 0.049), employment status (p < 0.001), and self-efficacy (p < 0.001). ADL in post-stroke patients was significantly influenced negatively by age (p = 0.025), time since stroke (p = 0.027), and stroke history (p < 0.001), while self-efficacy (p < 0.001) had a positive impact and moderated the relationship between social support and ADL. This study highlights the physical and psychosocial aspects affecting post-stroke patients, identifies key areas for enhancing their experiences, and informs the development of targeted interventions to address their comprehensive needs.

Development of advanced practice nursing core competencies in Saudi Arabia: A modified Delphi study.

BACKGROUND: Advanced practice nursing requires a diverse set of competencies that define what advanced practice nurses need to know and be able to do to deliver safe, effective, and high-quality healthcare. Given the lack of evidence regarding core competencies and the evolution of advanced practice nursing roles in Saudi Arabia, it is becoming increasingly important to develop core competencies to standardize educational and clinical training programs. OBJECTIVE: To define the core competencies of advanced practice nursing in Saudi Arabia. DESIGN: Utilizing a modified Delphi design and snowball sampling technique, data were collected between April and July 2023 using an online questionnaire consisting of 28 core competencies that was developed based on an in-depth literature review and a critical analysis of advanced practice nursing core competencies published by leading professional organizations. Two rounds of Delphi surveys were conducted. SETTINGS: The study was set in clinical and academic settings in Saudi Arabia. PARTICIPANTS: Nursing experts with graduate degrees as advanced practice nurses. RESULTS: In Round 1, 34 advanced practice nursing experts reached full consensus on 24 of the 28 core competencies, and four core competencies reached partial consensus. Based on suggestions and feedback from the experts, the investigators revised ten core competencies to reflect the improvement suggestions and created three new core competencies. A total of 26 core competencies were used in Round 2, which achieved a full consensus among the 34 advanced practice nursing experts, under the following six core competency domains: knowledge of advanced practice nursing, person-centered care, professional improvement, professionalism, communication and interprofessional partnership, and leadership and system-based practice. CONCLUSIONS: Given the need for a standardized competency framework, the 26 core competencies proposed in our study have the potential to guide education and training in academic programs and facilitate the implementation of advanced practice nursing in clinical settings.

The impact of comprehensive licensure review on nursing students' clinical competence, self-efficacy, and work readiness.

This study aims to assess the effectiveness of comprehensive licensure reviews and adaptive quizzing assignments on nursing students' clinical competence, self-efficacy, and work readiness-an under-researched topic. Additionally, it seeks to explore the mediating effect of self-efficacy in the relationship between students' clinical competence and work readiness. A quasi-experimental (pre- and post-test), single-group design was employed. The study was conducted in a public university in Saudi Arabia and included a total of 293 senior nursing students in their last year of the bachelor program. An intervention was developed based on the blueprints of the Saudi Nursing Licensing Exam and NCLEX-RN and consisted of a weekly 3-h synchronous comprehensive licensure review bundled with 23 adaptive quizzing assignments over 15 weeks. Data were collected prior to and after the intervention using three scales: clinical competence, self-efficacy, and work readiness. The mean scores of clinical competence, self-efficacy, and two subscales of work readiness (work competence and social intelligence) increased significantly post-intervention. Self-efficacy (ß = 0.353, p < 0.001) and clinical competence (ß = 0.251, p < 0.001) influenced work readiness (F [5, 226] = 21.03, p < 0.001) and accounted for 31.8% of the explained variability in work readiness. In the mediation analysis, clinical competence had a significant and indirect effect on work readiness through self-efficacy (B = 0.464, p < 0.001, 95% CI 0.250 to 0.699). The proportion of mediation indicated that 37.2% of the total effect of clinical competence on work readiness was due to the indirect effect of self-efficacy. Comprehensive licensure review and adaptive quizzing assignments improve students' perceptions of clinical competence and self-efficacy. Such interventions could ease the transition of senior nursing students to clinical practice.

Burden of Illness of Type 2 Diabetes Mellitus in the Kingdom of Saudi Arabia: A Five-Year Longitudinal Study.

INTRODUCTION: Type 2 diabetes mellitus (T2DM) is associated with huge clinical and economic burden in the Kingdom of Saudi Arabia (KSA) which can be curtailed by efficacious treatment. In order to achieve this, current treatment pathways for T2DM and associated costs need to be assessed. METHODS: A longitudinal cohort review was conducted to collect country-specific and patient-specific clinical data, over a minimum observation period of 5 years in the KSA. Patient demographics, clinical characteristics and treatment patterns were recorded. The IQVIA Core Diabetes Model (CDM) version 9.5 Plus was used to assess the burden of illness, which included long-term projections of clinical (life expectancy [LE], quality-adjusted life-years [QALYs], event rates of diabetes-related complications) and direct medical cost (per-patient annual or lifelong [50 years]) outcomes of the most commonly used first-line (1st-line) regimens for T2DM from a payer perspective in the KSA. RESULTS: Data were collected from a subpopulation of 638 patients from 15 participating centres. There was an equal gender representation with a majority of the patients belonging to Arabian/Saudi ethnicity (71.0%). Biguanides (81.5%), sulfonylureas (51.6%), dipeptidyl peptidase 4 (DPP4) inhibitors (26.2%) and fast-acting insulins (17.2%) were the most prescribed 1st-line agents. The most frequently used 1st-line regimens resulted in an estimated LE of 25-28 years, QALYs of 18-21 years and lifelong total cost of illness of 201,377-437,371 Saudi Arabian riyal (53,700-116,632 US dollars). CONCLUSION: Our study addresses gaps in the current research by providing a complete landscape of baseline demographic, clinical characteristics and treatment patterns from a heterogeneous group of patients with T2DM in the KSA. Additionally, the burden of illness analysis using CDM showed substantially higher cost of T2DM care from a payer perspective in the KSA.

Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia.

BACKGROUND: Lipodystrophy is a relatively rare, complex disease characterised by a deficiency of adipose tissue and can present as either generalised lipodystrophy (GLD) or partial lipodystrophy (PLD). The prevalence of this disease varies by region. This study aimed to identify the genetic variations associated with lipodystrophy in the southern part of Saudi Arabia. METHODOLOGY:  We conducted a retrospective study by recruiting nine patients from six families, recruiting the proband whole exome sequencing results or any other genetic test results, screening other family members using Sanger sequencing and analysing the carrier status of the latter. These patients were recruited from the Endocrinology and Diabetes Clinic at Jazan General Hospital and East Jeddah Hospital, both in the Kingdom of Saudi Arabia. RESULT: Eight patients were diagnosed with GLD, and one was diagnosed with PLD. Of the six families, four were consanguineously married from the same tribe, while the remaining belonged to the same clan. The majority of GLD patients had an AGPAT2 c.158del mutation, but some had a BSCL2 c.942dup mutation. The single PLD case had a PPARG c.1024C > T mutation but no family history of the disease. In all families evaluated in this study, some family members were confirmed to be carriers of the mutation observed in the corresponding patient. CONCLUSION:  Familial screening of relatives of patients with rare, autosomal recessive diseases, such as lipodystrophy, especially when there is a family history, allows the implementation of measures to prevent the onset or reduced severity of disease and reduces the chances of the pathogenic allele being passed onto future generations. Creating a national registry of patients with genetic diseases and carriers of familial pathogenic alleles will allow the assessment of preventive measures and accelerate disease intervention via gene therapy.

Role delineation of advanced practice nursing: A cross-sectional study.

AIMS: To identify the roles and activities of nurses, including advanced practice nursing (APN), and to determine nursing practice patterns across health facilities in Saudi Arabia. METHODS: A descriptive cross-sectional design was used to collect data from 207 nurses working in the Saudi health sector between November 2021 and March 2022 through an online questionnaire. The Advanced Practice Role Delineation tool was used to measure and delineate nursing practice patterns and activities. Data were analysed using descriptive statistics and analysis of variance. The study followed the Strengthening the Reporting of Observational Studies in Epidemiology reporting guidelines. RESULTS: Findings showed that participants, regardless of their current role, reported high scores across all domains of practice. The highest average score was obtained for the Clinical Care domain. Except for the leadership domain, findings showed that those reported working as advanced practice nurses had higher average scores across all domains than those working as staff nurses or being in managerial/administrative positions. There were significant differences in the average Clinical Care scores between advanced practice nurses and staff nurses. CONCLUSION: Advanced practice nursing roles and activities are being practised in Saudi Arabia; however, there is no clear delineation of these roles and activities according to a unified and national-level APN scope of practice. IMPACTS: Advanced practice nursing roles are evolving in Saudi Arabia; however, no study has examined the existing patterns of APN activities in Saudi Arabia. This study highlights the practice patterns of advanced practice nurses and adds to the international evidence base on the need for delineating APN activities under a unified scope of practice. The findings of this study are beneficial to practitioners, researchers, and stakeholders as well as the legislative and regulatory bodies. PATIENT OR PUBLIC CONTRIBUTION: No patient or public contribution.

Comprehensive licensure review and adaptive quizzing assignments for enhancement of end-of-programme exit examination scores in Saudi Arabia: a quasi-experimental study.

OBJECTIVE: This study explores the effectiveness of a comprehensive licensure review and adaptive quizzing assignments intervention in improving the performance of undergraduate senior nursing students on the end-of-programme exit exam. DESIGN: A quasi-experimental single-group design was used to compare pretest and post-test scores through computerised adaptive tests. SETTING: The setting was a nursing college in Saudi Arabia. PARTICIPANTS: The study included 292 senior nursing students enrolled in the Bachelor of Science in Nursing programme. INTERVENTION: A comprehensive licensure review bundled with adaptive quizzing assignments was delivered over 15 weeks in the academic year 2021-2022. The bundle was guided by the elaboration theory, and it included 3-hour synchronous lectures every week and 23 adaptive quizzing assignments that covered weekly content. PRIMARY AND SECONDARY OUTCOME MEASURES: Students' mastery scores and the percentage of correct answers were the primary and secondary measures, respectively. Both measures were collected in the pretest and post-test (exit examination). Additionally, demographic characteristics were collected in the pre-test using an online survey. RESULTS: The overall mean of the mastery score was statistically significantly higher in the exit exam (M=2.51, SD=1.70) than in the pretest (M=1.45, SD=0.44; p<0.001). Although the overall mean of the mastery score in the exit exam did not reach the cut-off score, students who demonstrated the required knowledge and satisfactory performance in the pretest achieved a mastery score above the cut-off. The percentage of correct answers was statistically significantly higher in the exit exam (M=58.59%, SD=9.50) than in the pretest (M=49.32%, SD=9.78; p<0.001). A statistically significant difference in students' performance based on gender, age and grade point average was observed. CONCLUSIONS: A comprehensive licensure review and adaptive quizzing assignments intervention bundle fostered the performance of undergraduate nursing students in the end-of-programme exit exam.

Nursing faculty perceptions of simulation culture readiness in Saudi universities: a cross-sectional study.

BACKGROUND: Academic programs are increasing simulation-based learning in Saudi Arabia during COVID-19 pandemic; however, there is limited knowledge about these universities' simulation culture readiness. Thus, the purpose of this study was to explore faculty perceptions of the readiness to integrate simulation into nursing programs. METHODS: This cross-sectional correlational study recruited faculty members in four nursing colleges at Saudi universities using the simulation culture organizational readiness survey 36-item questionnaire. A total of 88 faculty members from four Saudi universities were included. Descriptive, Pearson's correlation, independent sample t-test, and analysis of covariance analysis were utilized in this study. RESULTS: Nearly 39.8% and 38.6% of the participants had Moderately and Very Much overall readiness for the simulation-based education (SBE), respectively. There were significant correlations between the summary impression on simulation culture readiness measures and simulation culture organizational readiness survey subscales (p < 0.001). Three simulation culture organizational readiness survey subscales (defined need and support for change, readiness for culture change, and time, personnel, and resource readiness) and the overall readiness for SBE were correlated with age, years since highest degree, years of experience in academia, and years using simulation in teaching (p < 0.05). The sustainability practices to embed culture subscale and summary impression were only correlated significantly with the number of years using simulation in teaching (p = 0.016 and 0.022, respectively). Females had a significantly higher mean in the sustainability practices to embed culture subscale (p = 0.006) and the overall readiness for simulation-based education (p = 0.05). Furthermore, there were significant differences among the highest degree in the overall readiness for SBE (p = 0.026), summary impression (p = 0.001), the defined need and support subscale (p = 0.05), the sustainability practices to embed culture subscale (p = 0.029), and the time, personnel, and resource readiness subscale (p = 0.015). CONCLUSIONS: Favorable simulation culture readiness results suggest great opportunities to advance clinical competencies in academic curricula and optimize educational outcomes. Nurse academic leaders should identify needs and resources to enhance simulation readiness and encourage the integration of simulation in nursing education.

Work readiness of newly graduated nurses transitioning to practice in Saudi Arabia: A cross-sectional study.

AIMS: To explore work readiness among newly graduated nurses transitioning to practice in Saudi Arabia. BACKGROUND: Many challenges encounter newly graduated nurses when transitioning to practice. Higher work readiness has been associated with smooth transitioning to practice. However, little is known about work readiness among newly graduated nurses in Saudi Arabia. METHODS: Cross-sectional convenience sample of 174 participants. RESULTS: The mean score in work readiness was 338.8 (SD = 69.6). Weekly working hours correlated with organizational acumen (r = 0.208, p ≤ 0.01), social intelligence (r = 0. 217, p ≤ 0.01), work competence (r = 0.173, p ≤ 0.05) and the number of weeks since the start of internship training (r = 0.180, p ≤ 0.05). There were significant mean differences in a) personal work characteristics based on the country (t = 5.582, p < 0.001) and university from which they graduated (f = 15.618, p < 0.001); b) organizational acumen based on having a second job (t = -2.18, p = 0.03), university from which they graduated (f = 1.837, p = 0.002) and whether the hospital was the first-choice preference (t = - 2.837, p = 0.005) and nursing was the first choice of study (t = -2.879, p = 0.005); and c) work competence based on the university from which they graduated (f = 5.267, p = 0.006). CONCLUSIONS: The findings showed the work readiness of newly graduated nurses in Saudi Arabia's context. IMPLICATIONS FOR NURSING MANAGEMENT: Findings have important implications for nurse managers to better design and implement a transition to practice programs for newly graduated nurses to improve their preparedness in their nursing careers.

Development and Validation of the Transition Readiness Assessment Instrument in Type 1 Diabetes "On TRAck".

OBJECTIVES: Transition to adult care is challenging for youth with type 1 diabetes (T1D) and their caregivers. We have developed the diabetes-specific "On TRAck" transition readiness scale, and in this study we assess its reliability and validity compared with TRANSITION-Q, a generic transition readiness questionnaire. METHODS: We systematically created 3 versions of On TRAck: adolescent, parent and health-care provider (HCP) versions (for case managers and physicians). Among adolescents 13 to 18 years of age with T1D at a single academic centre, we conducted an exploratory factor analysis and assessed interrater agreement, internal consistency and relationship with age; recent glycated hemoglobin (A1C); and recent diabetic ketoacidosis (DKA) with On TRAck and TRANSITION-Q. RESULTS: One hundred fifteen adolescents (aged 15.8±1.6 years and diabetes duration 6.7±4.1 years), their caregivers and diabetes HCPs participated. The final 24-item adolescent and parent scales (with 3 subscales: "Self-efficacy," "Autonomy" and "Support & maturity") and the 3-item HCP version had a Cronbach's alpha of 0.86 to 0.93. Adolescent scores correlated with parents (r=0.64), case managers (r=0.39) and physicians (r=0.28). Mean adolescent score was 190.3±27.1 points out of 240. Adolescent scores were 3.4 points higher per year of age (p=0.03) and 4.4 points higher for every 1% lower A1C (p=0.01), but were not associated with DKA. TRANSITION-Q was associated with age. On TRAck HCP scores were associated with adolescent's age, A1C and DKA. CONCLUSIONS: On TRAck represents a new psychometrically comprehensive diabetes-specific scale that can be used in adolescent diabetes clinics for measuring transition readiness. It is a multidimensional instrument with ease of use and high reliability scores.

Congenital generalized lipodystrophy in two siblings from Saudi Arabia: A case report.

Congenital generalized lipodystrophy type 1 (CGL1) is a very rare autosomal recessive genetic mutation with generalized lipoatrophy and metabolic complications. We report CGL1 in two Saudi female siblings with lipoatrophy, diabetes mellitus, hypertriglyceridemia, steatohepatitis, and acanthosis due to very rare homozygous 1-acylglycerol-3-phosphate O-acyltransferase ß (AGPAT2) genetic variant.

Intrapersonal and Interpersonal Factors Influencing Physical Activity in Arab Americans.

BACKGROUND: Many Arab Americans do not meet the physical activity (PA) guidelines despite evidence to support health benefits. AIMS: We aimed to investigate the relationships between PA and sample characteristics, intrapersonal factors, and interpersonal factors and examine to what extent these factors influence PA in Arab Americans. A cross-sectional, descriptive-correlational design using a self-administered questionnaire with 140 Arab Americans was used. Spearman ρ correlation was used to assess the associations between PA and sample characteristics, intrapersonal factors, and interpersonal factors. Three simultaneous gamma regression models were used to assess to what extent these factors jointly influenced PA. RESULTS: Most participants (58.6%) reported a high level of PA. Significant positive associations were found between PA and health status, religiosity, and PA self-efficacy (rs = 0.21, P = .019; rs = 0.19, P = .029; and rs = 0.28, P = .003, respectively). Multiple regression models revealed that being employed (model 1: Exp[b] = 1.87, P = .030; Model 3: Exp[b] = 1.77, P = .043) and having chronic conditions (model 1: Exp[b] = 1.88, P = .031; model 2: Exp[b] = 1.96, P = .034; model 3: Exp[b] = 1.91, P = .047) were associated with greater PA, when accounting for other sample characteristics, intrapersonal factors, and interpersonal factors. CONCLUSION: Presence of chronic health conditions and employment status should be considered when promoting PA in Arab Americans. Future research is needed to explore the relationship between religiosity, PA self-efficacy, and PA in this population.

Development of unit cost for the health services offered at King FAHD Central hospital Jazan, Saudi Arabia.

BACKGROUND: Efficiency remains one of the most important drivers of decision making in health care system. Fund allocators need to receive structured information about the cost healthcare services from hospitals for better decisions related to resource allocation and budgeting. The objective of the study was to estimate the unit cost for health services offered to inpatients in King Fahd Central hospital (KFCH) Jazan during the financial year 2018. METHODS: We applied a retrospective approach using a top-down costing method to estimate the cost of health care services. Clinical and Administrative departments divided into cost centres, and the unit cost was calculated by dividing the total cost of final care cost centres into the total number of patients discharged in one year. The average cost of inpatient services was calculated based on the average cost of each ward and the number of patients treated. RESULTS: The average cost per patient stayed in KFCH was SAR 19,034, with the highest cost of SAR 108,561 for patients in the Orthopedic ward. The average cost of the patient in the Surgery ward, Plastic surgery, Neurosurgery, Medical ward, Pediatric ward and Gynecology ward was SAR 33,033, SAR 29,425, SAR 23,444, SAR 20,450, SAR 9579 and SAR 8636 respectively. CONCLUSION: This study provides necessary information about the cost of health care services in a tertiary care setting. This information can be used as a primary tool and reference for further studies in other regions of the country. Hence, this data can help to provide a better understanding of tertiary hospital costing in the region to achieve the privatization objective.

The quality of clinical practice guidelines for management of pediatric type 2 diabetes mellitus: a systematic review using the AGREE II instrument.

AIMS: Pediatric type 2 diabetes mellitus (T2DM) is a relatively new disease with increasing incidence corresponding to the obesity epidemic among youth. It is important for clinicians to have access to high-quality clinical practice guidelines (CPGs) for appropriate management of pediatric patients with T2DM. The objective of this systematic review was to evaluate overall quality of CPGs for the management of pediatric T2DM using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool. METHODS: We searched MEDLINE, Embase, CINAHL, Trip, National Guideline Clearinghouse, and grey literature to identify eligible CPGs. We also searched the webpages of national and international diabetes and pediatric organizations globally. We included CPGs from national and international diabetes and pediatric associations that were published as standalone guidelines for T2DM in children and adolescents (2-18 years of age). We also included pediatric and adult guidelines for type 1 diabetes if they included a section addressing T2DM management in children and adolescents. We retrieved the two most recent guidelines from each organization when available to assess change in quality over time. We excluded individual studies and systematic reviews that made treatment recommendations as well as CPGs that were developed for a single institution. RESULTS: We included 21 unique CPGs in this systematic review. Of the included guidelines, 12 were developed or updated between 2012 and 2014. Five of all included CPGs were specific to pediatric populations. The analysis revealed that "Rigour of Development" (mean 45%, SD 28.68) and "Editorial Independence" (mean 45%, SD 35.19) were the lowest scoring domains on the AGREE II for the majority of guidelines, whereas "Clarity of Presentation" was the highest scoring domain (mean 72%, SD 18.89). CONCLUSIONS: Overall, two thirds of the pediatric T2DM guidelines were moderate to low quality and the remaining third ranked higher in quality. Low quality was especially due to the scores for the "Rigour of Development" domain, which directly measures guideline development methodology. It is important that future guidelines and updates of existing guidelines improve the methodology of development and quality of reporting in order to appropriately guide physicians managing children and adolescents with T2DM. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42016034187.

The Clinical Burden of Rotavirus Gastroenteritis: A Prospective Study.

Background In Saudi Arabia, there is a lack of recently published, appropriately conducted epidemiological studies on rotavirus (RV) diarrhea, which emphasizes the need for up-to-date and comprehensive studies. Objective Our objective was to provide more recent data on the clinical and epidemiological characteristics as well as the economic burden of RV diarrhea among young children admitted to a tertiary care hospital in the city of Riyadh in the year prior to the initiation of the RV vaccine. Design We conducted a prospective observational study at a children's specialized hospital at King Fahad Medical City. We included children under five years of age who were hospitalized for gastroenteritis over a 12-month period from January 2012 to December 2012. Stool samples were collected on admission and tested for the presence of RV using an enzyme immunoassay. Results Of the 204 children included over the study period (mean age, 9.8 months ± 10.2; 124 males), 102 (50%) were RV-positive. Two-thirds (69.6%) were under one year old, and 38.2% were under six months of age. RV infections occurred throughout the year, with the highest proportion occurring during the spring and summer. RV-positive diarrhea was more severe than the RV-negative diarrhea as indicated by a significantly lower bicarbonate level (68.6% versus 31.3%, P-value < 0.0001), a higher frequency of severe dehydration (11.7% versus 3%, P-value = 0.015), and longer hospital stay (mean duration, 8.78 versus 6.56 days, P-value = 0.027). In addition, the financial burden of the RV-positive cases was greater than the RV-negative cases (median 1692 USD versus 1287 USD, P-value = 0.001). Conclusion Our study shows a high prevalence of RV infections among young children admitted to the hospital for acute gastroenteritis. Furthermore, RV infections are associated with severe diarrhea and significant financial burden.

Appraisal of clinical practice guidelines for management of paediatric type 2 diabetes mellitus using the AGREE II instrument: a systematic review protocol.

BACKGROUND: The prevalence of type 2 diabetes mellitus (T2DM) in children and adolescents is increasing. This has spurred the development and publication of clinical practice guidelines (CPGs) for the management of paediatric T2DM. Given the long-term complications of T2DM, optimal management is important to prevent or delay these complications. However, the quality of published CPGs has not yet been empirically evaluated. Our objective is to systematically appraise all published CPGs for the management of T2DM in children and adolescents. METHODS: We will identify all published CPGs that address T2DM in children and adolescents through MEDLINE, Embase, CINAHL, Trip, and the National Guideline Clearinghouse and will screen diabetes and paediatric societies and associations' websites. Search records will be screened in duplicate for inclusion. Grey literature will be covered by systematically searching publications of all relevant diabetes societies and associations and other health organizations for CPGs that meet our inclusion criteria. CPGs deemed eligible for inclusion will be retrieved. Quality assessment will be conducted using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool by a team of four appraisers. Scaled scores of the AGREE II will be used to gauge the overall quality of CPGs. DISCUSSION: The results of this review will be disseminated through presentations at local, national, and international conferences and publication in a peer-reviewed journal. The results of this review can help improve the reporting of future guidelines, inform decisions of policy-makers to endorse CPGs, and affect the choice of guideline use in clinical practice. SYSTEMATIC REVIEW REGISTRATION: PROSPERO CRD42016034187.

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

OBJECTIVE: To determine the frequency of mitochondrial DNA depletion syndrome (MDS) in infants with cholestasis and liver failure and to further clarify the clinical, biochemical, radiologic, histopathologic, and molecular features associated with MDS due to deoxyguanosine kinase (DGUOK) and MPV17 gene mutations. STUDY DESIGN: We studied 20 infants with suspected hepatocerebral MDS referred to our tertiary care center between 2007 and 2013. Genomic DNA was isolated from blood leukocytes, liver, and/or skeletal muscle samples by standard methods. Mitochondrial DNA copy number relative to nuclear DNA levels was determined in muscle and/or liver DNA using real-time quantitative polymerase chain reaction and compared with age-matched controls. Nuclear candidate genes, including polymerase γ, MPV17, and DGUOK were sequenced using standard analyses. RESULTS: We identified pathogenic MPV17 and DGUOK mutations in 11 infants (6 females) representing 2.5% of the 450 cases of infantile cholestasis and 22% of the 50 cases of infantile liver failure referred to our center during the study period. All of the 11 patients manifested cholestasis that was followed by a rapidly progressive liver failure and death before 2 years of life. Mitochondrial DNA depletion was demonstrated in liver or muscle for 8 out of the 11 cases where tissue was available. Seven patients had mutations in the MPV17 gene (3 novel mutations), 4 patients had DGUOK mutations (of which 2 were novel mutations). CONCLUSION: Mutations in the MPV17 and DGUOK genes are present in a significant percentage of infants with liver failure and are associated with poor prognosis.

Permanent neonatal diabetes mellitus.

BACKGROUND: Neonatal diabetes is a rare cause of hyperglycemia, affecting 1: 500,000 births, with persistent hyperglycemia occurring in the first months of life lasting more than 2 weeks and requiring insulin. This condition in infants less than 6 months of age is considered as permanent neonatal diabetes mellitus. CASE REPORT: A rare case of permanent neonatal diabetes mellitus presented with intrauterine growth retardation (IUGR; birth weight: 1460 grams; female), hyperglycemia, glycosuria, and mild dehydration, a normal Apgar score of 8 and 9 at 1 and 5 minutes, respectively. The parents, of consanguineous union, had no prior history of diabetes mellitus. Of their 4 children, the first child had a diagnosis similar to the patient (their last child). The patient was initially started on continuous infusion of insulin, and then switched to regular insulin subcutaneously, but response was sub-optimal. She was started on neutral protamine Hagedorn, following which her condition improved. She was discharged on neutral protamine Hagedorn with regular follow-up. CONCLUSIONS: In view of widespread consanguinity in Saudi Arabia it appears prudent and pertinent to suspect permanent neonatal diabetes mellitus following diagnosis of hyperglycemia in small-for-age infants, especially those with positive family history of diabetes. Close blood glucose monitoring is essential as long as hyperglycemia persists. Prolong follow-up is imperative.