Hypereosinophilic syndrome (HES) is a group of rare blood disorders characterized by a persistent elevation of blood eosinophil count ⩾1.5×10/L and clinical manifestations attributable to eosinophilia or tissue hypereosinophilia. Lymphocytic variant of HES (HES-L) is a known subtype according to World Health Organization classification. It is well documented in the literature that patients with HES-L are predisposed to develop T-cell lymphoma. We report a case of T-cell lymphoproliferation associated with hypereosinophilia, which has been successfully treated with mycophenolate mofetil, with resolution of skin lesions and normalization of eosinophil count and immunoglobulin E level. We believe this is a clinically relevant case since this is a rare disease with little known knowledge on its best treatment modality.

Objectives To determine the incidence, trends, maternal and neonatal risk factors of severe intraventricular hemorrhage (IVH) among infants born 24-32 weeks and/or < 1500 g, and to evaluate the impact of changing of hospital policies and unit clinical practice on the IVH incidence. Study design Retrospective chart review of preterm infants with a gestational age (GA) of 24-32 6 weeks and/or weight of < 1500 g born at King Abdulaziz Medical City-Riyadh (KAMC-R), Saudi Arabia, from 2016 to 2018. Multivariate logistic regression model was constructed to determine the probability of developing severe IVH and identify associations with maternal and neonatal risk factors. Results Among 640 infants, the overall incidence of severe IVH was 6.4% (41 infants), and its rate decreased significantly, from 9.4% in 2016 to 4.5% and 5% in 2017 and 2018 (p = 0.044). Multivariate analysis revealed that caesarian section delivery decreased the risk of severe IVH in GA group 24-27 weeks (p = 0.045). Furthermore use of inotropes (p = 0.0004) and surfactant (p = 0.0003) increased the risk of severe IVH. Despite increasing use of inotropes (p = 0.024), surfactant therapy (p = 0.034), and need for delivery room intubation (p = 0.015), there was a significant reduction in the incidence of severe IVH following the change in unit clinical practice and hospital policy (p = 0.007). Conclusion Cesarean section was associated with decreased all grades of IVH and severe IVH, while use of inotropes was associated with increased severe IVH. The changes in hospital and unit policy were correlated with decreased IVH during the study period.

Congenital myopathies are rare neuromuscular hereditary disorders that manifest at birth or during infancy and usually appear with muscle weakness and hypotonia. One of such disorders, early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD, OMIM: 614399, MIM: 612453), is a rare autosomal recessive disorder caused by biallelic mutations (at homozygous or compound heterozygous status) in MEGF10 (multiple epidermal growth factor-like domains protein family). Here, we report two unrelated patients, who were born to consanguineous parents, having two novel MEGF10 deleterious variants. Interestingly, the presence of MEGF10 associated EMARDD has not been reported in Saudi Arabia, a highly consanguineous population. Moreover, both variants lead to a different phenotypic onset of mild and severe types. Our work expands phenotypic features of the disease and provides an opportunity for genetic counseling to the inflicted families.

BACKGROUND: Cholecystolithiasis is a worldwide gastrointestinal disorder and dietary pattern is one of the major risk factors involved in formation of cholelithiasis. AIM: This study was undertaken to determine the dietary patterns of female patients with cholecystolithiasis in the central region of Saudi Arabia. METHODS: A total of 332 females respondents were included, among them 157 were cholecystolithiasis cases, whereas 175 were healthy female subjects. All respondents were from central region of Saudi Arabia. Data were collected from a self-administered questionnaire and dietary patterns of studied population samples were compared by Chi-square test using SPSS software. RESULTS: The data showed that the consumption of meat from beef, lamb or goat, butter, ghee, pizza, cereals, legumes, coffee, tea, kabsa rice, tomatoes, and eggs was found to be positively associated with the risk of cholelithiasis. Interestingly, the data also demonstrated that consumption of cakes, chocolates, cookies, ice cream, doughnuts, chicken, fish or other sea foods, French fries, and hot dogs showed no relation with the risk of cholelithiasis. CONCLUSIONS: This study provides a comprehensive description of the dietary patterns of females from central region of Saudi Arabia and their association with the risk of onset of cholelithiasis. Specifically, the majority of non-vegetarian food stuffs showed positive association with the risk of development of cholelithiasis. These findings strongly recommended that the Health Ministry of Saudi Arabia should initiate the specific intervention public health programs on the dietary pattern in relation with the risk of cholelithiasis.

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