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   Table of Contents - Current issue
May-August 2018
Volume 31 | Issue 2
Page Nos. 43-90

Online since Tuesday, December 11, 2018

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Which cortical tuber type is more epileptogenic? Magnetic resonance imaging-based study in children with tuberous sclerosis complex p. 43
Ahmed A El-Beheiry, Haidy M Nassef, Reda M Darwish, Tarek E.I Omar, Haytham M Hussein
Background Cortical tubers are the most common brain lesions in patients with tuberous sclerosis complex (TSC). The relationship between cortical tubers and the severity of seizures is challenging and still not totally understood. Purpose The aim was to identify the different types of cortical tubers in children with TSC on the basis of MRI and to evaluate the relationship between these tuber types and severity of epilepsy. Participants and methods Twenty children with a history of TSC and neurological manifestations, mainly epilepsy, were enrolled in this prospective study. All patients were examined by conventional MRI imaging including 3D T1, axial T2, axial fluid-attenuated inversion-recovery (FLAIR), diffusion-weighted imaging, and susceptibility-weighted imaging. Characterization of different types of tubers was performed on the basis of the signal intensity of their subcortical white matter. The association between the severity of epilepsy and types of cortical tubers was studied. Results Four types of cortical tubers were identified labeled A, B, C, and D. Type A was only identified on T2 and FLAIR. Type B showed a hypointense T1 signal with hyperintensity on T2 and FLAIR. Type C was cystic, with the highest apparent diffusion coefficient values. Type D was calcified with blooming on susceptibility-weighted imaging. Patients were grouped into 4 groups according to the tuber types. There was a significant difference between different groups and frequency of seizures (P<0.05*). Group A showed the most favorable course, whereas groups C and D showed a higher association with more severe phenotypes. Conclusions Cortical tubers can be classified into different types on the basis of their MRI signal intensities. Identification of these types is a valuable noninvasive diagnostic measurement in the assessment of the severity of seizures in TSC patients, which may help in tailoring the treatment for each patient.
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Vitamin D status in a neonate–mother pair attending Alexandria University Children’s Hospital during the first week of life p. 52
Mohamed N.Z Massoud, Mohamed M.M Rizk, Aml A.A Mahfouz, Nermin A.A Mahmoud
Background Vitamin D deficiency and rickets continue to be a public health problem despite abundant sunshine throughout the year. The cause of rickets in Egyptian children is still unclear and needs to be investigated. Aim The current study was designed to evaluate vitamin D status in neonates and their mothers in the first week of life. Participants and methods Serum 1, 25-dihydroxyvitamin D and calcium profile were analyzed in a hundred neonate–mother pairs attending the Neonatology Clinic in Alexandria University Children’s Hospital, Egypt, during the first week of life. Maternal history was assessed, focusing on maternal risk factors favoring vitamin D deficiency, maternal medical condition, and physical examination of the neonates. Results A high prevalence of vitamin D deficiency among pregnant women and their neonates in the first week of life was recorded (47 and 86%, respectively), the magnitude of which warrants public health intervention. There was a significant relation between serum vitamin D status of the mother and her newborn, with a positive correlation between vitamin D levels in the serum of both (r=0.813, P<0.001). There was a statistically significant relation (P<0.001) between older age groups, insufficient calcium supplementation during the second and third trimester of pregnancy, inadequate sunlight exposure, frequent previous pregnancies, and low levels of 1, 25-dihydroxyvitamin D. Conclusion Inadequate sunlight exposure, frequent previous pregnancies, and low socioeconomic standards seem to be the most important contributing factors for vitamin D deficiency of both mother and neonate. Vitamin D supplementation for the pregnant mother and her newborn soon after birth is recommended.
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Plasma citrulline as a marker of intestinal function in neonates with feeding intolerance p. 59
Mohamed M Gaafar, Dina T Sarhan, Manal M Al-Amin, Al Zahraa M Soliman, Asmaa E Hassan
Background Neonatal feeding intolerance may be the presentation of many diseases. Response to enteral feeding depends on enterocyte mass and function. Objective The aim was to assess the diagnostic and prognostic role of plasma citrulline level as a noninvasive marker in neonatal feeding intolerance. Patients and methods Thirty-nine neonates from the neonatal intensive care were classified into two groups: the patients’ group which included 26 neonates with different diagnosis, all of them had enteral feeding intolerance and the control group which included 26 neonates of similar gestational age and birth weight with no feeding intolerance. Patients with significant renal insufficiency or suspected urea cycle defect were excluded. This is a hybrid study. It was carried out in two phase. Phase 1: the case–control study in which we measured plasma citrulline in the patients’ and control group at the start of the study; and phase 2 the cohort study in which follow-up of plasma citrulline was done in patients at the time of diagnosis of feeding intolerance, when they started feeding, and when they reached 50% of their requirements. Results Plasma citrulline level at day 1 of presentation was significantly lower in the patients’ group than in the control group. In the absence of intestinal injury, plasma citrulline level increased significantly with the increase in gestational age, but once intestinal injury for any cause occurred, plasma citrulline level was no more age dependent. With more oral feeding tolerance, the plasma citrulline level increased significantly. Conclusion Plasma citrulline level is a very good noninvasive marker of intestinal integrity; it can assess the readiness for enteral feeding and it is not disease specific (whether medical or surgical conditions).
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Cross-sectional study of osteopenia of prematurity and associated risk factors p. 67
Mohamed T Abd El Latif, Ahmed M.S.H Abougabal, Khalid M Saad, Heba A.A Akl
Background Survival of very low birth weight preterm neonates born at less than 32 weeks gestational age (GA) have continued to improve. In response to this increased survival, osteopenia of prematurity or metabolic bone disease of prematurity (MBDP) became a significant comorbidity. This latter is defined as decreased bone mineral content relative to the expected level of mineralization for a fetus or infant of comparable size or GA seen in conjunction with biochemical and/or radiological changes. Aim The aim of this work was to determine the prevalence of MBDP among neonates aged 6 weeks or more, born before the 32nd week GA and weighing less than 1500 g at birth. The predisposing and contributing factors for the development of the disease were also investigated. Patients and methods This cross-sectional descriptive study comprised 32 neonates aged 6 weeks or more, delivered before the 32nd week and weighing less than 1500 g at birth, among those admitted to the neonatal intensive care unit of Alexandria University Children’s Hospital. The study had been extended over a 6-month period. According to the radiological and biochemical screening tests for MBDP, namely serum Ca, P, and alkaline phosphatase, the babies were categorized as group 1: with biochemical evidence [serum phosphorous (P) <4.5 mg/dl and alkaline phosphatase >500 IU/l], group 2: with radiological evidence using Koo’s score, and group 3: with no radiological or biochemical evidence. In addition, the contributing and precipitating factors of this bone disease were revised. Results The prevalence of MBDP, based on the biochemical workup and radiological evidence, were 12.5 and 9.4%, respectively. Important risk factors included prematurity, prolonged duration of parental nutrition, delayed full enteral feeding, increased maternal parity, and extended use of theophylline and furosemide. Use of theophylline, low-serum P and high urinary calcium/creatinine (Ca/Cr) ratio were significant predictors of radiological evidence of the disease. Conclusion Routine screening of MBDP by biochemical and radiological means for all preterm infants less than 32 weeks GA is crucial to minimize the risk factors and bony complications and optimize mineral supplementation and enteral feeding.
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Association between UGT-1A1 gene GLY71Arg polymorphism and severe unexplained indirect hyperbilirubinemia among neonates p. 76
Wesam A Mokhtar, Reem M Allam, Nahla Zidan, Mona S Hamed
Background Neonatal jaundice is considered the most prevailing clinical health problem among neonates. Numerous etiological factors are responsible for the development of pathological neonatal jaundice. Almost half of the cases have no well-identified risk factor suggesting an underlying genetic risk. Aim We aimed at investigating the relation between uridyl-diphosphate-glucuronosyltransferase 1A1 (UGT-1A1) gene Gly71Arg (G71R) polymorphism and the occurrence of unexplained severe indirect hyperbilirubinemia among Egyptian neonates. Patients and methods A case–control study was conducted on 81 term neonates presented with serum total bilirubin greater than or equal to 17 mg/dl with no identified underlying cause. Eighty-one age-matched and sex-matched term neonates without clinical jaundice were taken as controls. All neonates (cases and controls) were genotyped for the presence of UGT-1A1 gene G71R polymorphism using PCR restriction fragment length polymorphism. Neonatal cases were classified according to serum total bilirubin into four classes of severity: significant, severe, extreme, and hazardous hyperbilirubinemia. Results Genotype distribution frequency for G71R polymorphism was in accordance with Hardy–Weinberg equilibrium among controls but not among cases. There was significant increase in G71R A/G 50 (61.7%), A/A six (7.4%) genotypes, and A 62 (38.3%) allele distribution among cases with significant increase in estimated risk of unexplained hyperbilirubinemia with odds ratio (95% confidence interval) and P value of 8.6 (4.14–18.14) and P=0.000, 15.5 (1.78–136.2) and P=0.001, and 5.28 (2.92–9.57) and P=0.000, respectively when compared with controls. Significantly higher levels of total bilirubin among jaundiced neonates were observed with the A/A genotype followed by te A/G genotype as compared with the G/G wild genotype (P=0.000). Moreover, a significant association was found between the distribution of G71R genotypes and severity of jaundice. Conclusion UTG-1A1 gene G71R A/G, A/A genotypes, and A allele were associated with significant increased risk of severe unexplained indirect hyperbilirubinemia among Egyptian neonates.
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Vitamin D deficiency and vitamin D receptor gene polymorphisms as a risk factor for severe early-onset neonatal sepsis p. 82
Wesam A Mokhtar, Amal F Mohamed, Reem M Allam, Nahla I Zidan, Ghada A Mokhtar, Mai M Malek, Mona S Hamed
Background It is well known that vitamin D, which is one of the fat-soluble vitamins, is responsible for sustaining normal calcium balance and mineralization of the skeletal system. It is now widely considered as a pleiotropic hormone that modulates and regulates many biological processes of different organs including neural, endocrinal, immune processes, and cardiovascular differentiation of cells and apoptosis. Furthermore, vitamin D has a crucial immune-modulatory effect on innate and adaptive immune responses, endothelial cell function and mucosal barriers. Aim We aimed to study the relation between vitamin D level and vitamin D receptor (VDR) gene polymorphisms and the risk of severe early-onset sepsis (EOS) among a group of Egyptian neonates. Participants and methods We carried out a case–control study on 80 newborns with culture-proven EOS and their mothers. Eighty sex and age harmonized healthy neonates and their mothers were selected as controls. Maternal and neonatal serum (25-hydroxy-vitamin D) levels were analyzed using enzyme-linked immunosorbent assay. Genotyping of both cases and controls for the VDR gene (Fok1, Apa1, Taq1, and Bsm1) polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism. Cases were followed-up to detect the outcome. Results Cases and their mothers had a significant deficient vitamin D level compared with controls (P=0.000). Genotype frequency for all studied VDR gene polymorphisms, was in accordance with Hardy–Weinberg equilibrium among cases and controls, except for Fok1 genotype frequency in cases. VDR Fok1 F/f and f/f genotype and f allele were significantly higher in frequency among neonatal cases than among controls with odd ratio (95% confidence interval), and P value of 9.18 (4.31–19.81); P=0.000, 8.25 (2.36–28.83); P=0.000 and 4.52 (2.65–7.71); P=0.000, respectively. There was a significant association between low vitamin D level and increased Fok1 F/f, f/f genotype and f allele frequency and severity of sepsis and poor outcome. Conclusion Vitamin D deficiency and VDR gene Fok1 polymorphism are associated with increased severity of neonatal EOS.
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