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AIMS This study had 2 aims: to report data on the incidence of childhood‐onset type 1 diabetes in Kuwaiti children aged 0‐14 years during 2011 to 2013 and to compare the recent data with those collected during 1992 to 1997. METHODS All newly diagnosed patients were registered through the Childhood‐Onset Diabetes eRegistry (CODeR) in 2011‐2013, based on the DiaMond protocol used in 1992‐1997. RESULTS A total of 515 Kuwaiti children (247 boys and 268 girls) aged 0‐14 years newly diagnosed with type 1 diabetes were registered from 1 January 2011 to 31 December 2013. Data ascertainment were 96.7%. The mean age ± SD at diagnosis was 8.7 ± 3.4 years in boys and 7.9 ± 3.1 years in girls. The crude incidence rate (95% CI) was 40.9 (37.4‐44.6) and the age standardized rate 41.7 (95% 38.1‐45.4) per 100,000 per year, 39.3 (34.6‐44.4) among boys and 44.1 (39.0‐49.7) among girls. A statistically significant increasing trend in incidence was observed as the overall crude incidence rose from 17.7 in 1992‐1994 to 40.9 per 100,000 per year in 2011‐2013. The Poisson regression model depicting the trend in incidence revealed that, the incidence rates adjusted for age and sex in 2011 to 2013 was 2.3 (95% CI 1.9‐2.7) times higher than 1992‐1997. CONCLUSIONS The incidence of type 1 diabetes in Kuwaiti children 0‐14 years has doubled in the last 2 decades. The reasons for this increase requires further investigation.

Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspected MODY families by whole exome sequencing. Thirty-three of the 45 samples were independently sequenced at the DDI-NRI, Exeter University, UK ( https://www.diabetesgenes.org/ ) using targeted 21-gene panel approach. Pathogenic mutations in GCK, HNF1A, HNF1B, HNF4A, and PDX1 confirmed MODY in 7 families, giving an overall positivity rate of 22.6% in this cohort. Novel variants were identified in three families in PDX1, HNF1B, and HNF1B. In this cohort, Multiplex Ligation-dependent Probe Amplification assay did not add any value to MODY variant detection rate in sequencing negative cases. In highly selected familial autoantibody negative diabetes, known MODY genes represent a minority and 77.3% of the familial cases have yet to have a causal variant described.

Celiac disease (CD) is a chronic inflammatory disease of the small intestine triggered by gluten ingestion. The objective of this study is to describe our experience with CD children in Kuwait. The records of children with CD seen in the pediatric gastroenterology unit between February 1998 and December 2010 were retrospectively reviewed. Patients were referred because of symptoms or positive CD antibody screening of a high-risk group (type 1 diabetes and Down syndrome). Forty-seven patients were diagnosed: 53% were symptomatic and 47% were identified by screening. The median age at diagnosis was 66 (range 7-189) months. All cases were biopsy-proven except one. The symptomatic patients were significantly younger than those identified following screening (P<0.004). In the whole group, 66% were females and 77% were Kuwaitis; 9% had a positive family history of CD. The estimated cumulative incidence was 6.9/10(5). The median duration of symptoms before diagnosis was 8.5 (range 2-54) months. Failure to thrive was the most common presenting complaint (72%) followed by diarrhea (64%) and abdominal distension (56%). Atypical manifestations were seen in 60% of patients. Underweight and short stature were confirmed in 19% and 17% of patients, respectively. Overweight and obesity were detected in 14% and 6%, respectively. CD serology was based on a combination of antiendomysial and antigliadin antibodies. The median follow up was 24 (range 12-144) months. All patients were commenced on a gluten free diet, but good compliance was only achieved in 78%. The low frequency of childhood CD in Kuwait could probably be attributed to either an underestimation of the atypical presentations or failure of proper screening. Also, adherence to a gluten free diet is a major problem in our population.

Educational environment of an institution affects the quality of learning. We aim to assess the educational environment of the undergraduate curriculum of Faculty of Medicine, Kuwait University (FOMKU). A cross-sectional study was carried out during April 2014. The validated Dundee Ready Education Environment Measure (DREEM) questionnaire was e-mailed to 607 students. Mean scores of the main domains of the questionnaire, and for each item, were calculated, and their association with the students' background information was measured using Student's t-test (P-value of ≤0.05 was considered as the cut-off level of significance). Of 607 students, 117 (19.3%) completed the questionnaire. The total mean score for DREEM was 108.7/200 (54.3%). The mean score for students' perception of teaching, perception of teachers, academic self-perception, perception of atmosphere, and social self-perception were 25.2/48 (52.5%), 24.6/44 (55.9%), 18.4/32 (57.5%), 26.2/48 (54.5%), and 14.3/28 (51.0%), respectively. The highest mean score for an item of DREEM questionnaire was for \"my accommodation is pleasant\" (3.48±0.75), while the lowest was for \"there is a good support system for students who get stressed\" (0.88±0.86). The total mean score was not significantly different between the two phases of the curriculum, or among males and females; however, few significant differences among the main domains and items were noted. Based on the learners' perspectives, the educational environment of FOMKU, was suboptimal. Medical educators in Kuwait should improve this environment in order to advance the quality of the delivered curriculum.

The \"accelerator hypothesis\" predicts early onset of Type 1 diabetes (T1D) in heavier children. Studies testing direction of correlation between body mass index (BMI) and age at onset of T1D in different continental populations have reported differing results-inverse, direct, and neutral. Evaluating the correlation in diverse ethnic populations is required to generalize the accelerator hypothesis. The study cohort comprised 474 Kuwaiti children of Arab ethnicity diagnosed with T1D at age 6 to 18 years during 2011-2013. Age- and sex-adjusted BMI z-scores were calculated by comparing the BMI measured at diagnosis with Kuwaiti pediatric population reference data recorded during comparable time-period. Multiple linear regression and Pearson correlation analyses were performed. BMI z-score was seen inversely associated with onset age (r,-0.28; p-value<0.001). Children with BMI z-score>0 (i.e. BMI >national average) showed a stronger correlation (r,-0.38; p-value<0.001) than those with BMI z-score<0 (r,-0.19; p-value<0.001); the former group showed significantly lower mean onset age than the latter group (9.6±2.4 versus 10.5±2.7; p-value<0.001). Observed inverse correlation was consistent with that seen in Anglo-saxon, central european, caucasian, and white children while inconsistent with that seen in Indian, New Zealander, and Australian children. The accelerator hypothesis generalizes in Arab pediatric population from Kuwait.

Background/Objectives: Multisystem inflammatory syndrome in children (MIS-C), a rare but serious post-acute hyperinflammatory condition that occurs in children 2–6 weeks after Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection or exposure, varies between countries. Despite its serious nature, most children recover without any sequelae. The most frequently reported long-term sequelae are coronary artery aneurysms. This study aimed to describe the epidemiological profile, clinical characteristics (including cardiac manifestations), treatment, and outcomes of multisystem inflammatory syndrome in children (MIS-C) under 14 years of age with SARS-CoV-2 between February 2020 and November 2021 in Kuwait. Methods: Data on sociodemographic factors, co-morbidities, presenting signs and symptoms, as well as laboratory and echocardiography findings were retrieved from the Pediatric COVID registry (PCR-Q8 registry). Results: Of the one hundred and two patients with a provisional diagnosis of MIS-C, eighty-three patients fulfilled the WHO criteria of MIS-C. Thirty-nine of the MIS-C patients were admitted to the intensive care unit, and only one child died due to cardiogenic shock. Sixteen patients from the pediatric MIS-C cohort were diagnosed with cardiac abnormalities. Sixteen patients from the pediatric MIS-C cohort were diagnosed with cardiac abnormalities. Most (63% (10/16)) of the patients had coronary abnormalities, nine patients (56%) had myocardial dysfunction, and six patients (38%) had dual pathologies. Pericarditis occurred in three patients only, whilst six patients (38%) had dual pathologies. Pericarditis occurred in three patients only. Conclusions: MIS-C appears to affect younger children in Kuwait than in other countries; however, the clinical pattern is consistent with other countries. Further studies of an analytical nature are recommended to identify the risk factors associated with MIS-C and its cardiac sequalae to allow for proactive risk reduction.

Background: Lockdown was a unique experience that affected many aspects of life, particularly during the challenge of Ramadan fasting (RF). Studying this can increase understanding of the effects of lifestyle changes on quality of life (QoL) for children with type 1 diabetes (T1D) during RF. Methods: A cross-sectional study that assessed the effect of lockdown on lifestyle and QoL on fasting children living with T1D during Ramadan in the Middle East and North Africa region (2020-2021). We compared the child (self) and parent (proxy) reports using PEDQoL v3.0 disease specific questionnaire during lockdown and non-lockdown periods, and assessed correlations with lifestyle changes using regression and gap analyses. Results: A total of 998 reports from 499 children with T1D aged 8 to 18 years (study = 276, control = 223), and their parents during RF in lockdown and non-lockdown periods. Fathers were more involved in their children’s care during lockdown (P = .019). Patients had better compliance with treatment (P = .002), a reversed sleep pattern (P = .033), increased food intake (P ⩽ .001), and less exercise (P < .001). Children and parents perceived better QoL during lockdown (P ⩽.001) with no differences between their reports in “Diabetes Symptoms”, “Treatment Adherence,” and “Communication” domains. Self and proxy reports were different in all domains during non-lockdown (P = <.001-.009). In gap analysis, although not statistically significant, the gap was approximated between children’s and parents’ perceptions in all domains during lockdown. Conclusion: COVID-19 lockdown had a positive impact on QoL of children living with T1D during RF, possibly due to lifestyle changes and superior psychosocial family dynamics.

Hyperparathyroidism Jaw-Tumour Syndrome (HPT-JT) is characterized by primary hyperparathyroidism (PHPT), maxillary/mandible ossifying fibromas and by parathyroid carcinoma in 15% of cases. Inactivating mutations of the tumour suppressor CDC73/HRPT2 gene have been found in HPT-JT patients and also as genetic determinants of sporadic parathyroid carcinoma/atypical adenomas and, rarely, typical adenomas, in familial PHPT. Here we report the genetic and molecular analysis of the CDC73/HRPT2 gene in three patients affected by PHPT due to atypical and typical parathyroid adenomas, in one case belonging to familial PHPT. Flag-tagged WT and mutant CDC73/HRPT2 proteins were transiently transfected in HEK293 cells and functional assays were performed in order to investigate the effect of the variants on the whole protein expression, nuclear localization and cell overgrowth induction. We identified four CDC73/HRPT2 gene mutations, three germline (c.679_680delAG, p.Val85_Val86del and p.Glu81_Pro84del), one somatic (p.Arg77Pro). In three cases the mutation was located within the Nucleolar Localisation Signals (NoLS). The three NoLS variants led to instability either of the corresponding mutated protein or mRNA or both. When transfected in HEK293 cells, NoLS mutated proteins mislocalized with a predeliction for cytoplasmic or nucleo-cytoplasmic localization and, finally, they resulted in overgrowth, consistent with a dominant negative interfering effect in the presence of the endogenous protein.

Abstract Objective: Exploring early-onset diabetes in terms of describing characteristics at time of diagnosis might aid in a better understanding of etiology and may have implications on management and prevention. The aim of this study was to investigate the prevalence of early-onset type 1 diabetes (T1D) in Kuwait as well as describe their baseline clinical, biochemical, and immunological characteristics. Methods: Medical records of children newly diagnosed with T1D and registered in the Childhood-Onset Diabetes electronic Registry (CODeR) in Kuwait between 2017 and 2022 were reviewed. Early-onset T1D was defined as diagnosis at age younger than 6 years. Results: 2,051 children were registered with new-onset T1D between 2017 and 2022, of which 657 (32.0%) were diagnosed at early onset. There has been a trend of slight increase in the percentage of early-onset T1D after 2020 (15.2%) with a prevalence of 18.4% and 20.2% in 2021 and 2022, respectively (p = 0.056). Age at onset was inversely related to admission to the pediatric intensive care unit (OR = 0.90, 95% CI: 0.85, 0.95, p < 0.0001) and was directly related to positive celiac autoimmunity (p = 0.022), higher hemoglobin A1C (p < 0.0001), and C-peptide levels (p < 0.0001). However, age at onset of T1D was inversely related to the higher vitamin D levels (p < 0.0001). Conclusion: These findings reinforce the need for increased attention to be given to study the development of T1D in children of younger age. This in turn will support special management and prevention measures targeted toward this vulnerable age group.