Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children.

Background: Diagnostic difficulty in mitochondrial diseases (MD) results not only from the wide spectrum of symptoms and signs but also from the absence of a reliable screening or diagnostic biomarker.

Aim: To investigate the likelihood of MD in patients with symptoms and signs impressive of MD through quantitative measurement of plasma amino acids, and urinary organic acids.

Methods: Twenty patients with symptoms and signs suggestive of MD were further evaluated by quantitative plasma amino acids and urinary organic acids assay and neuroimaging.

Inherited thrombophilia in pediatric ischemic stroke: an Egyptian study.

Pediatric stroke is relatively uncommon, with often subtle clinical presentations. Numerous predisposing risk factors can be both inherited and acquired, including cardiac disease, vascular abnormalities, infectious diseases, collagen tissue diseases, inborn errors of metabolism, anticardiolipin antibody, lupus anticoagulant, deficiencies of protein C, protein S, antithrombin, or plasminogen, and prothrombotic mutations. We explored risk factors, clinical features, and neuroimaging among Egyptian children with ischemic stroke, and estimated the prevalence of inherited thrombophilia.

Melatonin and sleep-related problems in children with intractable epilepsy.

Children with epilepsy have high rates of sleep problems. Melatonin has been advocated in treatment of sleep disorders, and its beneficial effect has been confirmed in insomnia. The aim of this study was to assess melatonin levels in children with intractable epilepsy and its relation to pattern of sleep and characteristics of seizure disorder, as well as the effect of melatonin therapy on those parameters.

Growth hormone levels in children and adolescents with epilepsy.

Background: Patients with epilepsy often complain of symptoms that may be caused by disturbances in their hormonal balance. Disturbances in physical growth has been previously described. The aim of this study was to evaluate the effect of epilepsy and/or anti-epileptic drugs on the physical growth of patients with idiopathic epilepsy, as well as on the growth hormone (GH) and insulin growth factor-1 (IGF-1) status in those patients.

Anthropometry and body composition analysis in children with cerebral palsy.

Background & Aims: This study was undertaken to describe anthropometry, body composition parameters and assess serum levels of leptin and other biochemical markers of the nutritional status in a sample of Egyptian children with cerebral palsy(CP).

Methods: Anthropometric measurements (body weight, knee height, head, mid-upper arm, waist and hip circumferences, triceps and subscapular skin-fold thickness) were taken. Using the bioelectrical impedance technique, total body water(TBW), fat-free mass, fat mass, fat percentage and basal metabolic rate(BMR) were calculated.

Lead exposure and its association with pubertal development in school-age Egyptian children: pilot study.

Background: The aim of the present study was to determine blood lead levels in a group of Egyptian school-age children and assess its relationship to pubertal development.

Methods: Forty-one children were recruited from high- and low-pollution areas in Cairo, Egypt. Sexual maturation was evaluated using Tanner score.

Autoantibody to heterogeneous nuclear ribonucleoprotein-A2 (RA33) in juvenile idiopathic arthritis: clinical significance.

Background: Objective biomarkers are needed for early diagnosis of juvenile idiopathic arthritis (JIA). Anti-A33 antibodies are considered good markers for adult rheumatoid arthritis (RA), but little information is available on their occurrence in JIA. The aim of the present study was therefore to investigate the value of anti-RA33 for diagnosis of JIA (both early and established disease), and its relation to markers of disease activity, and bone resorption.

Lipid profile, apolipoproteins A and B in children with epilepsy.

In this study, lipid profile was assessed, and the intimal wall thickness of both carotid arteries in children with idiopathic epilepsy was measured. The study comprised 22 children with idiopathic epilepsy on either carbamazepine or valproate. A profile including triglycerides, total cholesterol, low-density and high-density lipoproteins cholesterol, apolipoproteins AI and B, and Duplex estimation of intimal wall thickness of carotid arteries were performed.

Reproductive hormonal changes and catamenial pattern in adolescent females with epilepsy.

Purpose: We aimed to evaluate the effect of epilepsy on the reproductive hormones levels among female patients, and to investigate the frequency of catamenial pattern of seizures.

Methods: A total of 42 female patients with epilepsy and 21 healthy females (control group) were included. Subjects were at least 2 years postmenarche with regular cycles.

Serum concentrations of CCR4 ligands in relation to clinical severity of atopic dermatitis in Egyptian children.

T helper 2 (Th2) lymphocytes, the key effector cells in pathogenesis of atopic dermatitis (AD), express CCR4 receptors. CCR4 ligands (macrophage-derived chemokine 'MDC' and thymus and activation-regulated chemokine 'TARC') direct trafficking and recruitment of Th2 cells into lesional skin in AD. These chemokines appear to be useful inflammatory markers for assessing severity of AD in adults.

Plasma interleukin-1beta levels in children with febrile seizures.

Proinflammatory and anti-inflammatory cytokines regulate the febrile response during infection. In this study, the role of cytokines in the pathogenesis of febrile seizures was investigated, through comparing levels of interleukin-1beta in the peripheral blood of children with febrile seizures and in a matched control group of children with febrile illnesses without seizures. The study included 33 children with febrile seizures (mean +/- SD, 29.

Rectal bleeding in Egyptian children.

Aim: In a prospective study to outline the aetiology of bleeding per rectum (BPR) in Egyptian infants and children, a subsidiary aim was to define some of the clinical characteristics of the different aetiologies.

Subjects And Methods: 194 children with BPR are described. The diagnostic work-up included laboratory investigations, radiological and endoscopic assessment, radio-isotope scanning, angiography and histopathological examination of mucosal biopsies, as appropriate.

Physical growth and endocrinal disorders during pubertal maturation in girls with epilepsy.

Purpose: This study investigated the effect of epilepsy and/or antiepileptic drugs (AEDs) on the physical growth, pubertal development, and androgenic status of girls with epilepsy between ages 8 and 18 years.

Methods: Sixty-six female patients with epilepsy, their mean ages 13.47 +/- 3.

Physical and hormonal profile of male sexual development in epilepsy.

Purpose: This study was designed to investigate the effect of epilepsy and antiepileptic drugs (AEDs) on both the physical and hormonal aspects of the sexual development of male patients with epilepsy.

Methods: One hundred thirty male subjects with epilepsy, their age ranging between 8 and 18 years (mean, 14 +/- 2.9 years), entered the study; all were taking AEDs.