The Assessment of Diabetic Ketoacidosis Awareness Among Diabetic Patients and Their Caregivers in Makkah, Saudi Arabia: A Cross-Sectional Study.

INTRODUCTION: Diabetic ketoacidosis (DKA) is a life-threatening complication of diabetes mellitus (DM). It occurs due to a decrease in the level of insulin and an increase in the level of glucose in the blood, which makes cells unable to use glucose as an energy source and begin to break fat into ketones; an overload of ketones levels in the blood can lead to DKA. The aim of the study is to assess awareness of DKA among diabetic patients and their caregivers in Makkah City, Saudi Arabia. METHODS: This study is a cross-sectional study collected through an online questionnaire of diabetic patients and their caregivers in Makkah City. A self-reported questionnaire designed in Arabic and English through the use of Google Forms, it distributed electronically via social media to the target population with the objectives of the survey. RESULTS: A total of 400 participants were included, 73% of them were males, while 27% were females. A 9% of the participants have been diagnosed with DKA. A high awareness level about DKA was found in 32.5% of participants, while 67.5% had a poor awareness level. Factors associated with a high level of awareness towards DKA are young age, being single, students and having a previous DKA diagnosis. CONCLUSION: Regarding our participants who have poor awareness of DKA, further education for diabetic patients and their caregivers about DKA is crucial to prevent life-threatening complications, and improve quality of life for these patients.

Enabling Factors for the Successful Implementation of the CBAHI Accreditation Program.

Background: Healthcare organizations worldwide tend to implement hospital accreditation programs to improve the quality of care they provide. However, the literature shows inconsistent findings on the impact of such programs on the quality of care due to improper implementation of accreditation programs. Purpose: This study explored the enabling factors for the effective implementation of the Saudi Central Board for Accreditation of Healthcare Institutions (CBAHI) program in the Ministry of Health (MOH) hospitals in Madinah, Saudi Arabia. Methods: This qualitative study involved 22 professionals from five CBAHI-accredited MOH hospitals in Madinah, Saudi Arabia. A purposive sampling technique was applied, and data were collected through in-depth, semi-structured interviews. A thematic analysis approach was applied to the interview transcripts. Results: Four themes and 11 subthemes emerged. The emerging themes included the development of human capital, resolving quality management issues, ensuring the availability of resources, and strategizing CBAHI-specific solutions. Conclusion: The current study fills this knowledge gap by identifying the factors leading to the effective implementation of the CBAHI accreditation program in the MOH hospitals. Only the effective execution of the CBAHI will increase healthcare quality and, as a result, justify the significant resources and efforts invested in these programs. Future research should replicate similar study in other governments or private hospitals.

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.

Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.

Impact of the Accreditation Program of the Saudi Central Board for Accreditation of Healthcare Institutions on the Safety Dimension of the Institute of Medicine Quality.

Background: Although hospital accreditation is recognized as a tool for improving healthcare, there are inconsistent results regarding its impact on healthcare quality. In Saudi Arabia, it is mandatory for all Ministry of Health (MOH) hospitals to be accredited by the Central Board for Accreditation of Healthcare Institutions (CBAHI). Purpose: This study measured the impact of the CBAHI accreditation program on the Institute of Medicine's (IOM) safety dimension in Madinah. Methods: A cross-sectional study was conducted using retrospective data gathered from a review of hospital records over 60 months (ie, 12 months before, 36 during, and 12 post-accreditation). The data were analyzed using piecewise (segmented) regression analysis. Results: The three indicators (ie: incident reports, medication errors, and nosocomial infection) were continuously improved compared to the data before accreditation, as a results of implementing the CBAHI accreditation program. Therefore, the CBAHI had a significantly positively impacts on MOH hospitals' safety dimension. Conclusion: Complying with the CBAHI standards can help reduce the rates of incident reports, medication errors, nosocomial infections, and post-admission mortality. This study provides insight for MOH hospitals and opportunities to expand the accreditation program to improve the quality of healthcare services.

Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report.

Introduction: For many years, congenital panhypopituitarism has been recognized to cause infantile cholestasis. However, the isolated cortisol deficiency as a cause of cholestasis and liver failure was rarely reported. Case description: A 32-days old male infant presented to the hepatology clinic with infantile cholestasis. His initial workup revealed alanine transaminase (ALT) level of 138 U/L, aspartate transaminase level of 76 U/L, total bilirubin (T.Bil) of 103 mmol/L, direct bilirubin of (D.Bil) 83 mmol/L, gamma-glutamyl transpeptidase (GGT) level of 28 U/L with normal prothrombin time (PT) of 13 seconds. One week later, the patient developed severe bronchiolitis necessitating mechanical ventilation associated with acute liver failure and worsening cholestasis. His ALT increased to 303.5 U/L and direct bilirubin increased to 204 mmol/L with prolongation of PT to 18.9 seconds reflecting derangement in synthetic liver functions. There was associated hypoglycemia, hyponatremia and high normal potassium level with a picture of adrenal insufficiency. Hormonal workup and genetic testing revealed isolated cortisol deficiency with a novel homozygous mutation c.763_764delAT (p. Met255ValfsX17) in Melanocortin 2 receptor gene (MC2R) and the patient was diagnosed as familial primary glucocorticoid deficiency. The patient was maintained on cortisol replacement therapy with the resolution of cholestasis and normalization of liver functions. Conclusions: Patients presenting with infantile cholestasis associated with documented hypoglycemia should alert pediatricians about the possibility of familial glucocorticoid deficiency and prompt investigation of adrenal function should be considered. Cortisol replacement therapy leads to the resolution of cholestasis.

The Impact of COVID-19 Pandemic Lockdown on the Incidence of New-Onset Type 1 Diabetes and Ketoacidosis Among Saudi Children.

Background: Overburdened healthcare systems during the coronavirus disease (COVID-19) pandemic led to suboptimal chronic disease management, including that of pediatric type 1 diabetes mellitus (T1DM). The pandemic also caused delayed detection of new-onset diabetes in children; this increased the risk and severity of diabetic ketoacidosis (DKA). We therefore investigated the frequency of new-onset pediatric T1DM and DKA in Saudi Arabia during the COVID-19 pandemic and compared it to the same period in 2019. Methods: We conducted a multicenter retrospective cohort study, including patients aged 1-14 years admitted with new-onset T1DM or DKA during the COVID-19 pandemic (March-June 2020) and the same period in 2019. We assessed factors including age, sex, anthropometric measures, nationality, duration of diabetes, diabetes management, HbA1c levels, glycemic control, cause of admission, blood gas levels, etiology of DKA, DKA complications, length of hospital stay, and COVID-19 test status. Result: During the lockdown, 106 children, compared with 154 in 2019, were admitted to 6 pediatric diabetes centers. Among the admissions, DKA was higher in 2020 than in 2019 (83% vs. 73%; P=0.05; risk ratio=1.15; 95% confidence interval, 1.04-1.26), after adjusting for age and sex. DKA frequency among new-onset T1DM and HbA1c levels at diagnosis were higher in 2020 than in 2019 (26% vs. 13.4% [P=<0.001] and 12.1 ± 0.2 vs. 10.8 ± 0.25 [P<0.001], respectively). Females and older patients had a higher risk of DKA. Conclusion: The lockdown implemented in Saudi Arabia has significantly impacted children with T1DM and led to an increased DKA frequency, including children with new-onset T1DM, potentially owing to delayed presentation.

Sotos syndrome: A case report of 1st genetically proven case from Saudi Arabia with a novel mutation in NSD1 gene.

RATIONALE: Sotos syndrome is a rare genetic disorder characterized by rapid growth during infancy and childhood; ≥2 SD for height and head circumference; distinctive facial appearance and developmental delay.Ten clinically diagnosed cases have been reported from Saudi Arabia; none of them was genetically confirmed. PATIENT CONCERNS: A male Saudi patient, who had a birth length and head circumference above 97th centile, presented with abnormal rapid growth, delayed motor and mental milestones, aggressive behavior, obsession to close doors, nail biting, defective attention, and hyperactivity. DIAGNOSES: Sotos syndrome was suspected INTERVENTIONS:: Molecular genetic analysis for NSD1 gene was carried for the patient. OUTCOMES: A novel heterozygous deletion of all exons 1 to 23 of the NSD1 gene was detected. Genetic counseling was carried for the family with extended genetic testing for the parents and his siblings with normal results. LESSONS: Despite its worldwide distribution, Sotos syndrome may be under-reported. Besides its characteristic clinical picture, molecular genetic testing is also extremely recommended.

Late presentation of necrotizing enterocolitis associated with rotavirus infection in a term infant with hyperinsulinism on octreotide therapy: A case report.

RATIONALE: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy that can cause permanent brain damage. Consequently, optimal management is extremely important. Current pharmacologic and surgical treatment were available that included diazoxide and octreotides. PATIENT CONCERNS: A 4 month old Saudi male patient diagnosed at our hospital as CHI, treated with near total pancreatectomy and octreotide therapy of 30 mcg/kg/day presented with severe abdominal distension, vomiting and bloody diarrhea. DIAGNOSES: The patient was diagnosed as necrotising enterocolitis (NEC) associated with Rota virus infection which played together with octeriotides as risk factors for NEC. INTERVENTIONS: Radiological investigations and multidisciplinary team management with endocrinologist, neonatologist, pediatric surgeon, and gastroenterologist. OUTCOMES: Resolution of NEC with conservative medical management and was discharged after 1 month of hospital stay with follow up with all concerned sub specialties. LESSONS: NEC can develop in patients treated with octreotides especially when associated with another risk factor such as rotavirus infection.

Alström syndrome: A novel mutation in Saudi girl with insulin-resistant diabetes.

RATIONALE: Alström syndrome is an autosomal recessive disorder characterized by hearing loss, blindness, obesity, non-insulin dependent diabetes, and others. PATIENT CONCERN: A 10 years old Saudi girl, who presented with diabetic ketoacidosis and found to have hearing loss and blindness. DIAGNOSIS: Alström syndrome. INTERVENTIONS: Multidisciplinary team approach, with echocardiography, hearing test, eye exam and genetic test for Alström syndrome. OUTCOMES: The patient has retinitis pigmentosa, bilateral hearing loss, double diabetes with weakly positive anti-insulin antibodies and DNA analysis showed novel mutation for Alström syndrome. LESSONS: the combination of obesity, diabetes, hearing loss and blindness should alert the physician to test for Alström syndrome.