Prevalence and Risk Factors of Stroke Among Children With Sickle Cell Disease: A Retrospective Study at a Tertiary Care Center.

Background Sickle cell disease (SCD) is a common autosomal recessive inherited hemoglobin disorder in many countries. Neurological complications are among the most disabling complications in SCD. Stroke and cerebral vasculopathy can lead to further neurological insult. Ischemic insults, stroke, and silent infarcts are preventable causes of morbidity and mortality in SCD patients. Understanding the epidemiology and characteristics of such patients will help to prevent complications.  Methodology This is a retrospective study conducted in a tertiary care center in Saudi Arabia. Cases of SCD admitted to the pediatric ward between the years 2019 to 2023 were included in the study. Demographic data, clinical diagnosis, and frequency of prior admissions were collected. Brain imaging results were reviewed and included. Furthermore, the study assessed common risk factors leading to developing a stroke in SCD pediatric patients. Risk factors and clinical outcomes after stroke were also included. Results Eighty-one patients were enrolled. The mean age of stroke patients was 8.21±3.50 years while the mean age of non-stroke patients was 6.24±3.76 years. More than half of the patients were females in both the stroke (61.50%) and non-stroke groups (52.90%). Thirteen SCD patients (16%) were diagnosed with stroke. Previous history of stroke, high mean corpuscular volume (MCV), and low red blood cells count (RBC) were statistically significant risk factors for stroke (p<0.0001), (p<0.0001), (p<0.03), respectively.  Conclusion Stroke is one of the most devastating complications of SCD. The prevalence of stroke among SCD patients in our study was 16%. Transcranial Doppler ultrasound screening is the most important predictor of stroke.

Awareness and cognition of illness in Saudi Arabian patients with Crohn's disease.

BACKGROUND: Crohn's disease (CD) is a progressive illness associated with high morbidity owing to the complications associated with the condition. Patients' awareness and cognition of such complications may carry significant psychological impact. The aim of this study is to assess the illness cognition of Saudi patients diagnosed with CD and to identify clinical associations. METHODS: Adult patients with CD were asked to complete an illness cognition questionnaire (ICQ) between January and December of 2019. Additional data was extracted from the medical records. The ICQ composed of three domains: Helplessness (6 items), acceptance (6 items), and perceived benefits (6 items). Descriptive statistics were used to summarize patient characteristics and a linear regression analysis was used to identify associations with the ICQ score. RESULTS: A total of 88 patients were included, of which 55.8% were females, 18% were smokers, and 11.5% had undergone CD-related surgery. The mean age was 26.9 ± 7.7 years and the mean duration of disease was 54.7 ± 60.5 months. The mean score was 17.4 ± 3.6 for the helplessness domain, 13.4 ± 3.6 for the acceptance domain, and 13.5 ± 3.5 for the perceived benefits domain. We found associations between abdominal pain and acceptance (P = 0.048), extra intestinal manifestations and perceived benefit (P = 0.001), and treatment with mesalamine and helplessness (P = 0.03). In a linear regression analysis, albumin level was the only factor associated with helplessness (coef = 0.18, P = 0.048). CONCLUSIONS: A considerable proportion of Saudi patients diagnosed with CD generally reported a negative perception of their disease. Albumin level was associated with helplessness.

Endocrinopathies complicating transfusion-dependent hemoglobinopathy.

OBJECTIVES: To investigate the prevalence and significance of different endocrinopathies in children and adolescents with transfusion-dependent thalassemia and sickle-cell anemia. METHODS: This is a descriptive, retrospective study between January 2010 and July 2018 in King Abdulaziz University Hospital, Jeddah, Saudi Arabia. Data was collected through reviewing electronic hospital medical records then filling out data collection sheets and was interpreted through the IBM SPSS Statistics for Windows version 20.0 (IBM Corp, Armonk, NY, USA). Results: The total sample size was 119 patients, gender equality was almost achieved with 55.5% being male and 45.5% being female. The most common endocrinopathies were identified in the following order of short stature (39.5%), diabetes mellitus (29.4%), hypogonadism (12.6%), osteopenia (12.6%), osteoporosis (9.2%), hypothyroidism (9.2%), hypocortisolism (3.4%), and hypoparathyroidism (2.5%). All of which were statistically significant in their relationship to hemoglobinopathies with the exception of osteopenia and osteoporosis. Hypogonadism and hypocortisolism were found to be statistically significant in their relationship to a positive history of splenectomy at p=0.026 and p=0.012. Short stature was found to be statistically significant in its relationship to the male gender with a p=0.001. Conclusion: Endocrinopathy is a frequent complication of hemoglobinopathies, for which the most common were found to be short stature, diabetes mellitus,  and low bone mineral density.

Prevalence and Treatment Outcome of Nasolacrimal Duct Obstruction in Saudi Children with Down Syndrome.

Introduction Congenital nasolacrimal duct obstruction (CNLDO) is one of the most common congenital abnormalities encountered by pediatric ophthalmologists, occurring in 20-30% of all neonates (range: 6-84%). The majority of the cases (up to 90%) resolve within the first year of birth. Many syndromes, such as Down syndrome, are associated with congenital lacrimal anomalies. The prevalence of nasolacrimal anomalies in Down syndrome has been reported to be 22%. Methods This was a retrospective study of all children diagnosed with Down syndrome at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia between 2010 and 2015. Result The total sample size was 175 patients; 15 patients were diagnosed with CNLDO with a prevalence of 8.57%. The prevalence among the gender was 53.3% male and 46.7% female, with a median age of eight years. Regarding ocular disorders, 20.0% cases were diagnosed with refractive error, 13.3% with nystagmus, and 13.3% with blepharitis. Myopia, strabismus, conjunctivitis, and cataract were observed in four different patients, and the remaining four cases reported no other ocular disorders. Tearing, alone or associated with other symptoms, was the main presentation of CNLDO (86.7%). Bilateral CNLDO was the most commonly observed abnormality, alone or associated with others. The median age at diagnosis was one year. Of the cases, 53.3% were treated medically, 26.7% by surgical correction, and 13.3% required both. Conclusion Bilateral CNLDO is the most observed disease pattern among children with Down syndrome. In our study, tearing was the most common clinical presentation and most cases were treated medically. Down syndrome patients should be carefully examined for nasolacrimal duct obstructions and treated medically.

Nephrotic syndrome co-existing with type 1 diabetes in a 12-year-old boy: Case report and literature review.

Occurrence of early nephrotic syndrome in type 1 diabetes mellitus patients is extremely rare. Herein, we report the case of a 12-year-old boy who presented to our pediatric nephrology clinic with generalized edema. He had been diagnosed with type 1 diabetes mellitus at age 9 and had been treated with regular insulin. Examinations revealed normal kidney function, hypoalbuminemia, proteinuria (4+), hyperlipidemia, and low protein-to-creatinine ratio. The patient was diagnosed with idiopathic nephrotic syndrome and was empirically administered prednisolone for 12 weeks. Subsequently, prednisolone was tapered over 10-12 weeks. The patient showed good response to treatment. In conclusion, co-existence of nephrotic syndrome and type 1 diabetes mellitus may suggest an immunological basis; therefore, further studies are needed to investigate the relationship between these two conditions.