Dermatitis preceded many infectious diseases as an index of the development and urbanization of a community. However, infections still represent the most common dermatoses. Fortunately, they are potentially controllable and, therefore, healthcare strategies that target infections may represent the key for an efficient national healthcare program.

The results obtained with this new device are encouraging and at least comparable to those of current balloon techniques. Multiple uses after sterilization should markedly decrease the procedural cost, a major advantage in countries with limited resources and high incidence of mitral stenosis.

Background Childhood-onset systemic lupus erythematosus (cSLE) is a lifelong autoimmune disorder. The vitamin D receptor (VDR) gene is a potential candidate gene for cSLE susceptibility. In this study, we aimed to investigate the FokI polymorphism in the VDR gene in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a genetic marker for cSLE susceptibility or disease activity and we also measured the serum level of 25-hydroxyvitamin D [25(OH) D] to assess its relation to such polymorphism. Methods This was a case-control study, which included 300 patients with cSLE and 300 age, sex, and ethnicity-matched healthy controls. All participants were genotyped for the VDR gene FokI (rs2228570) polymorphism by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), while the serum [25(OH) D] levels were measured by enzyme-linked immunosorbent assay (ELISA). Results The VDR FokI FF genotype and F allele were overrepresented among cSLE patients compared with the controls, [odds ratio (OR) = 2.7; 95% confidence interval (CI): 1.6-4.4 for the FF genotype; p = 0.000; and OR = 1.6; 95% CI: 1.27-2.05 for the F allele; p = 0.000, respectively]. We found a significant association between VDR FokI FF genotype with lupus nephritis (OR: 4.8; 95% CI: 2.2-10.6; p = 0.002); and high disease activity index score ( p = 0.01). Conclusions The FokI polymorphism in the VDR gene may contribute to susceptibility to SLE in Egyptian children and adolescents. Moreover, the FF genotype constituted a risk factor for the development of lupus nephritis and was associated with low serum [25(OH) D] levels as well as higher disease activity index score among studied patients with cSLE.

ObjectiveOur study aimed to estimate the frequency of inborn errors of metabolism (IEMs) in patients presenting with acute encephalopathy-like picture at an emergency department (ED).Subjects and methodsOur study was a prospective observational study conducted on 30 patients admitted to the pediatric ED with unexplained acute encephalopathy. The study included 30 children with an age ranging from 1 month to 5 years. All patients were subjected to full history taking, thorough clinical examination, and laboratory investigations including serum ammonia, serum lactate, arterial blood gases, tandem mass spectroscopy, organic acid of urine, cerebrospinal fluid examination to exclude central nervous system infection plus the routine laboratory tests (kidney functions, liver functions, random blood glucose, complete blood picture), and brain imaging computed tomography and/or magnetic resonance imaging brain.ResultsThirty children presented with acute encephalopathy at the ED. All were screened for suspected IEMs. Ten (33.3%) of them was positive in the initial screening test. There were four (13.3%) patients with possible mitochondrial diseases, four (13.3%) patients with possible organic acidemia, one (3.3%) patient with possible urea cycle defect, and one (3.3%) patient with possible nonketotic hyperglycinemia.ConclusionAny case of unexplained acute encephalopathy presenting to the ED should be investigated for suspected IEM, especially in high-risk families, as early interventions will lead to improved outcome.

Balloon dilation of the pulmonary valve was performed in 54 patients with tetralogy of Fallot with severe cyanosis, high haematocrit and severe valvar pulmonary stenosis. Clinical, echocardiographic, angiographic, and haemodynamic data were analyzed before and after the procedure. After balloon dilation, the systemic oxygen saturation increased from a mean value of 66% to 85%. The mean value of the haematocrit before dilation was 55 + 13, and decreased to 47 after dilation (p < 0.002) in 2 months follow-up. Balloon dilation increased the size of the pulmonary valvar orifice from a mean value of 9 + 5 mm to 11.5 + 2 mm (p < 0.005). The mean Z score of the pulmonary valves, which was -3 + 1.3 before dilation, increased to -1.1 + 1.1 immediately after the procedure (p < 0.05). The size of the right and left pulmonary arteries increased after dilation from 9 mm to 10 mm, and from 8.7 + 2.4 mm to 9.8 + 2.3 mm, respectively (p < 0.05). The comparable mean Z scores increased from -2.8 + 1.9 SD to -1.8 + 1.4 SD, and from -2.4 + 1.9 SD to -1.5 + 1.6 SD for the right and left branches, respectively (p < 0.05). In patients with stenosis at the bifurcation of the pulmonary trunk and hypoplasia of the left artery, successful dilation of the pulmonary valve lead to an increase of flow and improvement in size of the hypoplastic segment. In conclusion, initial balloon dilation of the pulmonary valve in tetralogy of Fallot resulted in increase of the Z score for the pulmonary valve and improved antegrade pulmonary blood flow, inducing growth of the pulmonary arteries and ameliorating the anatomic and physiologic preoperative condition.

ObjectiveTo evaluate the role of serum apelin as a diagnostic tool in retinopathy of prematurity (ROP) disease.Patients and methodsThirty-eight preterm infants (60% male) with gestational age ranging from 30 to 36 weeks admitted to the neonatal intensive care unit, KJO Hospital, Saudi Arabia with proven diagnosis of ROP were included in the study. In addition, 27 preterm infants without ROP served as controls. All newborn infants in the study were subjected to adequate history taking, full clinical examination, and fundus examination by indirect ophthalmoscope (at 4–6 weeks) as well as determination of serum apelin at birth and at 4–6 weeks of age.ResultsThe study revealed that oxygen therapy longer than 7 days’ duration, cesarean section (as a mode of delivery), sepsis, mechanical ventilation, blood transfusion, premature rupture of membranes, pneumothorax, perinatal asphyxia, cardiac problems, and neonatal jaundice were considered as risk factors related to development of ROP. Serum apelin levels were significantly lower in patients than controls (P<0.001) at time of diagnosis of the disease (4–6 weeks) while no significant differences were observed in levels at birth.ConclusionSerum apelin was found to be of significant diagnostic value in the occurrence of ROP.

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ObjectiveThe objective of this study was to analyze the value of routine metabolic screening tests in children with an intellectual disability (ID) and its impact on improving their outcome and quality of life through appropriate intervention and treatment.Patients and methodsThis cross-sectional study was conducted in the Pediatric Neurology Clinic, Al Khafji Joint Operations Hospital, Kingdom of Saudi Arabia. A total of 150 children with nonsyndromic ID (66% males) in the age range of 5–17 years were compared with 50 apparently healthy age- and sex-matched controls. All studied groups were subjected to detailed history taking, family pedigree, thorough clinical examination, anthropometric measurements, routine laboratory investigations and urine metabolic screening tests (ferric chloride test and toluidine blue spot test and gas chromatography–mass spectrometry). Electroencephalography, IQ, psychiatric assessment and chromosomal study were done for the patient group only.ResultsPositive consanguineous marriage, older maternal or paternal age and family history of mental disabilities in other siblings were considered as risk factors for the development of mental disabilities. History of admission to neonatal intensive care unit was significantly higher among the patient group than among the controls (P<0.05). Metabolic screening tests showed that up to 35% of patients were positive for ferric chloride test, 9% of patients were positive for gas chromatography–mass spectrometry, and only 7 out of 150 (4.7%) patients were toluidine blue test positive.ConclusionMetabolic testing should be considered in the workup of individuals with nonsyndromic ID, which will need further specific investigations to confirm the diagnosis and determine the possible treatable cases.