LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.

Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the FERMT3 gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion. So far, only limited cases of LAD-III have been reported. This case report discusses a two-year-old male infant from the Asir region, Saudi Arabia, who was referred to the pediatric hematology service due to recurrent ecchymosis and epistaxis. He was born at full term with a history of transient tachypnea of the newborn and recurrent bronchiolitis. The patient exhibited normal platelet count and coagulation profiles alongside a familial history of bleeding disorders, including a cousin with a similar condition. The patient also presented with hypospadias and café-au-lait spots. Laboratory findings revealed anemia, microcytosis, and hypochromia indicative of iron deficiency anemia. Whole exome sequencing (WES) identified a homozygous variant of uncertain significance in the FERMT3 gene, associated with autosomal recessive LAD-III. The patient was subsequently referred to an immunology subspecialty for further investigation and bone marrow transplant preparation. This case underscores the importance of comprehensive clinical and genetic evaluations in pediatric patients with unexplained bleeding tendencies.

Comprehensive Analysis of Current Treatment Approaches for Keloids in Pediatrics: A Systematic Review.

Keloids, benign fibrous growths resulting from atypical skin responses to injuries, present a complex challenge in dermatology. These lesions, characterized by excessive collagen production, often lead to physical discomfort and psychological distress. While various treatment methods exist, the lack of a universally effective modality underscores the need for a systematic evaluation of current approaches. This systematic review aims to comprehensively analyze the current available treatment modalities used for the management of keloids in the pediatric population in terms of their effectiveness, safety, and quality of life outcomes. The review adheres to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A comprehensive search was conducted on PubMed and Google Scholar databases to identify relevant studies published in English. The review specifically focused on randomized controlled trials involving patients under 18 diagnosed with keloids, assessing different treatment modalities, and reporting validated measures of treatment efficacy, safety outcomes, and quality of life. The risk of bias was assessed using Cochrane's Risk of Bias Tool for randomized studies to ensure the methodological quality of the included trials. Four studies met the inclusion criteria, collectively involving 196 pediatric patients. Treatment interventions included glucocorticosteroid and fusidic acid cream with silicone gel patches, botulinum toxin type A injections, and Scarban silicone gel sheets. Patient-reported outcomes exhibited varying degrees of improvement in scar size, vascularity, and pliability. Complications, such as rash and wound infection, were reported in some cases. Based on our review of the selected studies and due to the incompletely understood pathogenesis of keloids, there is an ongoing lack of universally effective treatment modality for the management of keloids resulting in their persistently high recurrence rate.

Potential mechanisms for poor glycaemic control in patients with type two diabetes and fear of hypoglycaemia.

Purpose: The current study aimed to explore the potential effect of diabetes-related distress on the association between fear of hypoglycaemia and poor glycaemic control. We evaluated the specific aspects of fear of hypoglycaemia that affect glycaemic control among Saudi patients with type 2 diabetes (T2D). Methods: Descriptive cross-sectional survey of patients with T2D attending a specialist diabetes clinic in Taif, Saudi Arabia. We used the Hypoglycaemia Attitudes and Behaviour Scale (HABS) for assessing fear of hypoglycaemia among our sample. We used Structural Equation Modelling to evaluate the moderators and correlates of fear of hypoglycaemia. Results: We surveyed 365 patients with T2D. Cronbach's alpha for the HABS assessment was 0.84, an indication of excellent internal consistency. The composite reliability for hypoglycaemic anxiety was 86.8%; hypoglycaemic avoidance was 85.2%; and hypoglycaemic confidence was 92.6%. The mean HABS score was 32.7 points (out of 70 points; SD = 9.8 points). Fear of hypoglycaemia was associated with increased levels of glycated haemoglobin (HbA1c), presence of eye disease, heart disease, and stroke. Fear of hypoglycaemia was associated with poor glycaemic control. No significant moderating effect of diabetes-related distress was observed. However, only hypoglycaemic anxiety and avoidance were associated with poor glycaemic control. Confidence in the ability to control low glucose levels was not associated with elevated HbA1c levels. Conclusion: A significant finding of this study highlighted the considerable and direct effect of fear of hypoglycaemia on poor glycaemic control among patients with T2D. However, only fear-related anxiety and avoidance-and not confidence in the ability to control low glucose levels-had an effect on poor glycaemic control.

The Arabic Version of the Adult Eating Behavior Questionnaire among Saudi Population: Translation and Validation.

Inherited individual differences in eating behaviors known as "appetitive traits" can be measured using the Adult Eating Behavior Questionnaire (AEBQ). The AEBQ can be used to assess individuals that require intervention regarding their weight, eating habits, and for the identification of eating disorders. Arabic eating behavior assessment tools are few. This study, therefore, aimed to translate and validate the AEBQ in Arabic language (AEBQ-Ar) and to confirm the factor structure while assessing the internal consistency of all subscales. Participants completed the AEBQ-Ar and reported their sociodemographic data online. Exploratory factor analysis (EFA) was used and internal reliability was assessed using Cronbach's α. Correlations between AEBQ-Ar subscales and body mass index (BMI) were done using Pearson's correlation. A sample of 596 adults, mean age of 35.61 ± 12.85 years, was recruited from Saudi Arabia. The 6-factor structure was the best model, excluding emotional under- eating subscale and merging enjoyment of food and food responsiveness subscales. Internal consistency was acceptable for all subscales (Cronbach's α = 0.89-0.66). Emotional over- eating was positively associated with BMI, and slowness in eating was negatively associated with BMI. The AEBQ-Ar with 6-subscales appears to be a valid and reliable psychometric questionnaire to assess appetitive traits in Arabic speakers.

Family medicine residents' knowledge and attitudes towards biostatistics, Taif, Kingdom of Saudi Arabia.

Background: It is essential for practicing clinicians to have core knowledge of biostatistics. However, surveys indicated that clinicians' attitudes towards biostatistics are negative. Despite its importance, little is known about the knowledge of and attitudes towards statistics among trainees in family medicine, particularly in Saudi Arabia. The current investigation attempts to evaluate knowledge and attitudes held by family medicine trainees in Taif and explore their correlates. Materials and Methods: This was a descriptive, questionnaire-based, cross-sectional study of residents in family medicine training programme in Taif, Saudi Arabia. We used Poisson regression modelling to evaluate the effect of background factors on knowledge and attitudes towards biostatistics. Results: The study included 113 family medicine trainees at different levels of training. Only 36 (31.9%) of the participating trainees expressed positive attitudes towards biostatistics. On the other hand, 30 (26.5%) participating trainees were found to have good biostatistics knowledge, compared to 83 (73.5%) trainees whose knowledge level was found to be poor. Upon adjusting for all background factors simultaneously, only younger age, level R4 training, publishing one or three papers were found to be associated with poorer attitudes towards biostatistics. Older age was associated with worsening of attitudes (adjusted odds = 0.9900, P = 0.00924), and so also was being a senior R4 trainee (adjusted odds = 0.9045, P = 0.01301). Publishing one paper (compared to publishing over three papers) was associated with poorer attitudes towards biostatistics (adjusted odds = 0.8857, P = 0.03525). Also, having published three papers (compared to publishing over three papers) was still associated with worse attitudes towards biostatistics (adjusted odds = 0.8528, P = 0.01318). Conclusion: The main finding of our current study is the poor level of knowledge and overtly negative attitudes held by family medicine trainees in Taif towards biostatics. Knowledge was particularly poor about advanced statistical concepts such as survival analysis and linear regression modelling. However, poor levels of knowledge about biostatistics could be a function of poor research productivity among family medicine trainees. Age, seniority in training and involvement in research also impacted positively on attitudes towards biostatistics. Therefore, it is recommended that the training curriculum for family medicine trainees should first cover essential biostatistics in a creative and accessible way and secondly encourage engagement research and publication from an early stage of training.

Depressive symptoms in diabetic patients; prevalence, correlates, and moderating effect in Taif, Saudi Arabia.

Background: Diabetes is associated with a range of psychosocial stressors that could lead to considerable distress and increased risk of depressive symptoms. There is a pressing need to understand the underpinnings of diabetes-related distress and how it evolves in connection with depressive moods, and fears related to hypoglycaemia. Our current study attempts to fill this knowledge gap and further explore the interconnections between distress, fear, and depression among Saudi diabetic patients. Methods: Descriptive questionnaire-based cross-sectional study of type II diabetes patients in a specialist diabetes clinic in Taif, Saudi Arabia. We carried out Poisson regression modelling to evaluate the correlates of depressive and distress symptoms. Results: The study included (n = 365) patients living with type II diabetes. Cronbach's alpha for the DDS-17 was 0.93, and for HABS was 0.84, indicative of excellent internal consistency. Diabetes-related distress affected (n = 114, 22.8%) patients, whereas depressive symptoms affected (n = 190, 52.1%) patients. The mean HABS score was 32.7 points (out of 70 points) (SD = 9.8 points). High physical activity levels were found only in (n = 23, 6.3%) patients and moderate physical activity in (n = 65, 17.8%), whereas patients with low physical activity were (n = 277, 75.9%). Diabetes-related distress was associated with increased HbA1c, presence of eye disease, comorbid mental illness, heart disease, stroke, and low physical activity levels. Depressive symptoms were associated with increased HbA1c, longer diabetes duration, presence of eye disease, comorbid mental illness, comorbid neuropathy, heart disease, and low physical activity levels. Conclusions: Distress and depression levels are worryingly higher than previous estimates from Saudi Arabia among patients with type II diabetes, indicative of an upward trend and/or a pandemic-related jump. One significant finding from our results is the substantial effect of glycaemic control on increased distress, and depression among our type II diabetes patients. This interaction is likely due to effects on self-care and medication adherence. We also confirmed the association between depressive symptoms and the duration of diabetes. Our results indicated a connection between comorbid medical illness with depressive and distress symptoms.

Factors Affecting the Incidence, Progression, and Severity of COVID-19 in Type 1 Diabetes Mellitus.

OBJECTIVES: This study screened for factors affecting coronavirus disease 2019 (COVID-19) incidence in type 1 diabetes mellitus (T1DM) patients, appraised vitamin D's efficacy in preventing COVID-19, and assessed the effects of clinical characteristics, glycemic status, vitamin D, and hydroxychloroquine administration on COVID-19's progression and severity in T1DM patients. METHODS: This retrospective research on 150 adults was conducted at Security Forces Hospital, Riyadh, KSA. Participants were allocated to three groups (50/group): control, T1DM, and T1DM with COVID-19. Participants' fasting blood glucose (FBG), glycated hemoglobin (HbA1c), complete blood count, vitamin D, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), ferritin, lactate dehydrogenase (LDH), prothrombin time, activated partial thromboplastin time, D-dimer, liver and kidney function, and hydroxychloroquine treatment were retrieved and analyzed. RESULTS: The percentages of comorbidities and not taking hydroxychloroquine were significantly higher among T1DM patients with COVID-19 than patients with T1DM only. Mean vitamin D level was significantly lower in T1DM with COVID-19 patients than in the other two groups. Vitamin D showed a significant negative correlation with LDH, CRP, ESR, ferritin, and D-dimer, which was the most reliable predictor of COVID-19 severity in T1DM patients. CONCLUSION: Comorbidities and vitamin D deficiency are risk factors for COVID-19 in patients with T1DM. Patients who do not take hydroxychloroquine and have higher FBG and HbA1c levels are vulnerable to COVID-19. Vitamin D may be useful for preventing COVID-19 in T1DM patients. Comorbidities, higher FBG and HbA1c levels, not taking hydroxychloroquine, and vitamin D inadequacy elevate COVID-19 progression and severity in patients with T1DM.