Initial Response and Outcome of Critically Ill Children With Guillain Barre' Syndrome.

Background: Guillain-Barre syndrome is the most common cause of acute flaccid paralysis worldwide since the eradication of poliomyelitis. Severe cases may require intensive care and mechanical ventilation. Purpose: was to study pediatric patients with severe GBS requiring intensive care unit (ICU) admission, to assess their course and response to initial treatment modality plasma exchange (PE) or intravenous immunoglobulins (IVIg) and their final outcome. Methods: children with severe GBS who had either actual or impending respiratory failure, bulbar involvement or rapid progression of acute flaccid paralysis with trunk, upper limb and neck involvement within 24 h of the onset of weakness were enrolled. Results: 40 children were included. Following the initial treatment (33 subjects had 5 PE sessions each and IVIg in 7), 16 patients improved (40%), two died and 22 (55%) showed initial treatment failure. Axonal neuropathy, rapid progression and severe motor weakness significantly predicted poor response to therapy. At discharge, favorable outcomes (patient can walk unaided) were present in 22 cases (58%). Conclusion: Despite relatively low mortality, critically ill children with severe GBS have increased prevalence of axonal neuropathy and guarded response to initial therapy with PE or IVIg.

Identification of insulin gene variants in neonatal diabetes.

OBJECTIVES: Permanent neonatal diabetes (PNDM) is caused by mutations in the genes responsible for the synthesis of different proteins that are important for the normal behavior of beta cells in the pancreas. Mutations in the insulin gene (INS) are considered as one of the causes of diabetes in neonates. This study aimed to investigate the genetic variations in the INS gene in a group of Egyptian infants diagnosed with PNDM. METHODS: We screened exons 2 and 3 with intronic boundaries of the INS gene by direct gene sequencing in 30 PNDM patients and 20 healthy controls. A detailed clinical phenotyping of the patients was carried out to specify the diabetes features in those found to carry an INS variant. RESULTS: We identified five variants (four SNPs and one synonymous variant), c(0).187 + 11T > C, c.-17-6T > A, c.*22A > C, c.*9C > T, and c.36G > A (p.A12A), with allelic frequencies of 96.7%, 80%, 75%, 5%, and 1.7%, respectively. All showed no statistically significance difference compared with the controls, with the exception of c.*22A > C. CONCLUSION: Genetic screening for the INS gene did not reveal an evident role in the diagnosis of PNDM.

Selenium and Vitamin E as antioxidants in chronic hemolytic anemia: Are they deficient? A case-control study in a group of Egyptian children.

Accelerated oxidative damage is one of the hallmarks in both sickle cell disease (SCD) and thalassemia major (TM). A decreased antioxidant level is found in both diseases. Our study was carried out to evaluate the variation in serum levels of Selenium and Vitamin E among a group of transfusion dependant Egyptian SCD and TM patients, further more to correlate these levels with iron overload status or transfusion requirements. A case-control study was conducted at the Cairo University Pediatric Hospital to assess the serum levels of Selenium using Atomic Absorption Spectrometer and Vitamin E using commercially available ELISA Kit in transfusion dependent children, 30 with beta thalassemia and 30 with SCD in a steady state aged from 6 to 18 years, these findings were compared to 30 age/sex matched healthy controls. Our results revealed a depleted antioxidants level in the studied group of Egyptian children with TM and SCD relative to healthy controls (P < 0.05). A significant positive correlation was found between Vitamin E levels and ferritin (r = 0.26, p = 0.047) in SCD and TM patients. Nonsignificant correlation was detected between serum Selenium and Vitamin E. Moreover, values of these antioxidants did not correlate with indices of hemolysis nor with those of inflammation in chronically transfused TM and SCD patients.

Human Surfactant Proteins A2 (SP-A2) and B (SP-B) Genes as Determinants of Respiratory Distress Syndrome.

OBJECTIVE: To study the relationship between SP-A2 and SP-B gene polymorphisms and respiratory distress syndrome in preterm neonates. DESIGN: Cross-sectional. SETTING: Neonatal intensive care unit and the Molecular Biology unit of the Chemical Pathology Department, Kasr Alainy hospital, Cairo University. PARTICIPANTS: Sixty-five preterm infants with respiratory distress syndrome and 50 controls. The genomic DNA was isolated using DNA extraction kits. SYBR Green-based real-time PCR was used to determine the variant genotypes of SP-A2 c.751 G>A and SP-B c.8714 G>C single nucleotide polymorphisms. RESULTS: Homozygosity of SP-A (OR 46, 95% CI 14-151) and SP-B (OR 5.2, 95% CI 2.3-11.4) alleles increased the risk of respiratory distress syndrome. The logistic regression model showed that genotypes SP-A2 (OR 164) and SP-B (OR 18) were directly related to the occurrence of respiratory distress syndrome, whereas gestational age (OR 0.57) and 5-minute Apgar score (OR 0.19) were inversely related to its occurrence. CONCLUSIONS: There is a possible involvement of SP-A2 and SP-B genes polymorphisms in the genetic predisposition to respiratory distress syndrome.

Birth Weight, Insulin Resistance, and Blood Pressure in Late Preterm Infants.

OBJECTIVES: This study aims to compare insulin sensitivity, lipid profile, and blood pressure in late preterm infants born at appropriate for gestational age (AGA) and small for gestational age (SGA). STUDY DESIGN: We conducted a prospective, observational study on AGA and SGA late preterm infants. Blood pressure, fasting blood glucose, insulin, insulin-like growth factor 1 (IGF-1), insulin resistance, and lipid profile were measured on the 1st day and in the 2nd week of life. RESULTS: Overall 81 infants (41 AGA and 40 SGA) were included in the study. At the time of enrollment, there was no difference in blood pressure, insulin resistance, and lipid profile. At follow-up SGA patients had significantly decreased diastolic blood pressure (48 ± 11 mm Hg vs. 42 ± 11 mm Hg, p = 0.04), and decreased IGF-1 (139 ng/mL [119-153] vs. 124 ng/mL [115-138], p = 0.05). No linear association was found between the insulin resistance and either birth weight percentile, day of life, or average 1st week daily caloric intake. CONCLUSION: As compared with AGA, SGA late preterm infants had lower diastolic blood pressure and lower IGF-1 during the 2nd week of life, but similar insulin resistance and lipid profile. We speculate that although metabolic derangements in SGA infants could have occurred at a much earlier age in fetal life, their manifestations may not be present in the immediate postnatal life.

Association of serotonin transporter gene (5HTT) polymorphism and juvenile myoclonic epilepsy: a case-control study.

Serotonin levels might alter susceptibility to seizures. Serotonin transporter (5HTT) gene polymorphisms were found to be associated with some forms of epilepsy. Here, we attempted to examine an association between 5HTT VNTR allele variants in a serotonin transporter gene and epileptogenesis in juvenile myoclonic epilepsy (JME) cases. We conducted a case-control candidate gene study evaluating the frequencies of 5HTT VNTR allele variants using SYBR green real-time PCR with melting curve analysis in JME patients and healthy subjects. Forty patients with JME were selected from the Epilepsy Outpatient Clinic of Kasr Al Ainy Hospital, Cairo University, who had been classified according to the electroclinical classification of the ILAE. The control group consisted of 40 healthy Egyptian subjects. The less efficient transcriptional genotypes for 5-HTT polymorphisms were more frequent in JME patients (OR 9.33, CI 2.85-30.60; p value < 0.001). In our study we detected an association between the presence of 5-HTTVNTR with less transcriptional efficient genotypes and JME, which suggests that modulation of the serotoninergic system might be indicated in epileptogenesis in JME.

Aberrant p16INK4A methylation: Relation to viral related chronic liver disease and hepatocellular carcinoma.

BACKGROUND: Hepatocellular carcinoma (HCC) is currently the fifth most common solid tumor worldwide and the third leading cause of cancer related deaths. Several studies have shown that the tumor suppressor gene p16INK4A is frequently downregulated by aberrant methylation of the 5'-cytosine-phosphoguanine island within the promoter region. AIM: To find out the frequency of methylated p16INK4A in the peripheral blood of HCC and cirrhotic patients and to evaluate its role in hepatocarcinogenesis. PATIENTS AND METHODS: This study was performed on 58 subjects: 30 HCC patients, 20 cirrhotic patients, and eight healthy volunteers. Methylation of p16INK4A was examined using methylation specific polymerase chain reaction (PCR) (MSP). Comparison of quantitative variables between the study groups was done using Mann-Whitney U test for independent samples when not normally distributed. For comparing categorical data, Chi-square (χ(2)) test was performed. Exact test was used instead when the expected frequency was less than 5. RESULTS: Methylation of p16INK4A was found in 6.7% of HCC patients, 5% of liver cirrhosis (LC) patients, and none of the healthy volunteers; 66.67% of the p16INK4A-methylated cases (2/3) were positive for anti-hepatitis C virus (HCV) antibodies (one of them had HCC). All HCC cases with aberrant p16INK4A methylation show very high serum alpha fetoprotein (AFP) level (9,080; 30,000 µg/mL). There were no significant associations between the status of p16INK4A methylation and tumor size. CONCLUSION: Hypermethylation of p16INK4A was found to be infrequent among Egyptian patients with HCC.