Explore the vast range of titles available.

Background Endothelial dysfunction is an integral pathophysiologic mechanism in sickle cell disease (SCD), and can lead to many complications. Sleep-disordered breathing (SDB) is a SCD complication with diverse incidence and pathophysiology. This study aimed to determine the prevalence of SDB in children with SCD and to assess its relation to endothelial dysfunction. Methods Sixty children with SCD and 60 healthy controls were enrolled. The levels of TNF-α, IL-6, and IL-17A were evaluated in the entire cohort using enzyme-linked immunosorbent assay (ELISA) kits. Polysomnography (PSG) was performed for all SCD patients after completion of the Pediatric Sleep Questionnaire (PSQ). Results TNF-α, IL-6, and IL-17A levels were significantly greater in children with SCD than in controls ( p -values < 0.001, < 0.001, and 0.006, respectively). The PSQ revealed symptoms suggestive of SDB in 50 children with SCD (83.3%), and PSG revealed obstructive sleep apnea (OSA) in 44 children with SCD (73.3%); 22 patients had mild OSA, and 22 had moderate-to-severe OSA according to the apnea–hypopnea index (AHI). TNF-α was significantly greater in SCD children who reported heavy or loud breathing, trouble breathing or struggle to breathe, and difficulty waking up in the morning ( p -values = 0.002, 0.002, and 0.031, respectively). The IL-6 levels were significantly greater in SCD children who stopped growing normally ( p -value = 0.002). The levels of IL-6 and IL-17A were significantly greater in SCD children with morning headaches ( p -values = 0.007 and 0.004, respectively). Conclusion Children with SCD showed a high prevalence of SDB with significantly elevated levels of markers of endothelial function, highlighting the interplay of SDB and endothelial dysfunction in SCD.

Introduction Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disease, caused by recessively inherited MEFV gene mutations. The most frequent MEFV mutations differ in penetrance and disease severity. We investigated the genotype–phenotype associations of the three most frequent MEFV gene mutations (M680I, M694V, and V726A) in Egyptian FMF children, regarding clinical features, severity, and colchicine response. Methods We conducted a retrospective analysis of the medical registries of 500 FMF pediatric patients from Metropolitan Cairo between 2010 and 2015. The diagnosis was based on the Tel-Hashomer clinical diagnostic criteria. Clinical data and baseline investigations were collected. Mutation analysis was performed by the amplification-refractory mutation system (ARMS)-PCR method. Results Males represented 54% and ages ranged from 2 to 18 years. The most frequent symptoms were abdominal pain, fever, and arthralgia. Clinical features mostly associated with M694V mutation either homozygous or heterozygous whether simple, double, or triple. Of the patients, 94.6% completely responded to colchicine. Among patients benefiting from colchicine, 42.5% had M694V/V726A, 21.6% had M694V/V726A/M680I, and 21.1% had M694V genotype. Simple heterozygous M694V or V726A mutations conveyed a moderate phenotype in 57.1% and 50% of cases, respectively. Homozygous M694V mutation showed moderate and severe phenotypes in 21.7% and 65.2% of cases, respectively. Compound M694V/V726A mutation associated with moderate or severe disease in 48.3% and 33.8% of cases, respectively. Conclusion This study encompasses the largest group of Egyptian pediatric FMF up to date to explore their genotype–phenotype associations. Our results support the notion that the genotype influences the phenotype as regards clinical manifestations, disease severity, and colchicine response. Key Points: • This study encompasses the largest group of Egyptian pediatric patients affected by FMF up to date to explore their genotype–phenotype associations. • Our results support the notion that the genotype influences the phenotype as regards the clinical manifestations, the disease severity, and the response to colchicine treatment.

Background Iron overload‐induced oxidative stress and transfusion‐acquired hepatitis C virus (HCV) infection are the main reasons of liver damage in beta thalassemia major (β‐TM). Objectives Based on metformin’s hepatic benefits in nondiabetic populations, the study aims to investigate the safety and the potential hepatoprotective effect of metformin in HCV‐infected β‐TM adolescent patients. Methods This was a prospective, randomised, parallel, controlled, open‐label study in which 60 HCV‐infected β‐TM adolescent patients aged 11 to 18 years and receiving no antiviral therapy were selected and randomly assigned to treatment or control group in 1:1 allocation. Both groups were receiving β‐TM standard‐of‐care regimen, whereas metformin (500 mg, twice daily) was added to the treatment group's regimen only. Patients were prospectively followed up for 6 months with assessment of liver biochemical profile, oxidative stress markers, liver fibrosis, clinical symptom improvement and metformin's adverse effects. Results Aspartate aminotransferase serum level decreased significantly over time in the treatment group only (P = .013). However, improvement was not clinically significant and did not attain normality. Change in total antioxidant capacity and malondialdehyde serum levels indicated significantly improved oxidative stress status in the treatment group versus significant deterioration in the control group (P < .001). Fibrosis grade improvement was observed in 14 patients in the treatment group versus one improved case in the control group. Conclusion The use of metformin in HCV‐infected β‐TM adolescent patients as an adjuvant antioxidant hepatoprotective agent is promising and can improve liver damage.

Background Hematopoietic stem cell transplantation (HSCT), is the only currently available curative option for SCD. Yet, the eligibility of SCD patients for HSCT is always limited by the significant associated toxicity and lack of suitable donors. At Cairo University’s pediatric hematology outpatient clinic, we aimed to determine hematopoietic stem cell transplantation (HSCT) candidates among a sickle cell disease (SCD) cohort, estimate the number of possible donors, and analyze the differences between patients with and without an HSCT indication. Methods This study was a cross-sectional analytic study including 128 SCD children. Their demographic, clinical, and laboratory profiles, total number, and number of siblings with SCD were obtained from their medical records. Results Sixty-nine (53.9%) had at least one HSCT indication. Recurrent severe pain episodes despite hydroxyurea were the most common indication. Hemoglobin was lower, while reticulocyte count, serum ferritin, and aspartate aminotransferase were higher in HSCT candidates ( p value < 0.001). Additionally, the prevalence of splenomegaly, the dose of hydroxyurea, and the number of transfusions were noticeably higher in HSCT candidates ( p value = 0.013, 0.005, and < 0.0001 respectively). Among those indicated for HSCT; 75.3% had at least one healthy sibling who might be a potential donor. Conclusion More than half were eligible for HSCT which should always be considered to provide a possible cure for the disease. Of the transplantation-eligible cases, about two-thirds had at least one healthy sibling who might potentially serve as a donor. Those meeting the requirements for HSCT eligibility should routinely undergo human leukocyte antigen (HLA) testing of their unaffected siblings.

Objective Early identification of sickle renovascular changes via renal Doppler sonography among sickle cell disease patients to help in early diagnosis and interventions to prevent progression to end-stage renal disease. Methods Forty-five SCD children were included along with 45 healthy control children. Renal Doppler sonography (PI and RI) was performed on all subjects. Laboratory investigations were done: Hb electrophoresis, complete blood picture with blood indices, reticulocyte count, liver enzymes (ALT and AST), HCV serology, serum ferritin, and lactate dehydrogenase (LDH). Urine analysis and albumin/creatinine ratio in urine were done for all patients as well. Results The study group consisted of 45 SCD patients, 27 (60%) males with a mean age of 12 years (± 3 years). By performing renal Doppler sonography, it was found that all study groups had significantly higher Doppler indices (resistivity index and pulsatility index) compared to the control group. Results of renal Doppler sonography revealed that the main renal pulsatility index was positively correlated with the main renal resistance index ( r  = 0.454, p  = 0.002). Conclusion Doppler indices (resistance index and pulsatility index) were of value to assess reno-vascular changes in SCD, Thus, renal Doppler indices could be an early technique in the assessment of sickle renovascular changes, so treatment can be started at an early stage before progressive affection of renal function.