Study of cases of 46, XX disorder of sex development [46, XX DSD] with assessment after their early surgical intervention

Background: Congenital Adrenal Hyperplasia [CAH] is the commonest cause of disorders of sex development [DSD] in children. The surgical management of children with CAH has always been difficult, subject to evolving attitudes and techniques, and at times controversial. The timing of surgery is one of the many factors that influence outcomes and is currently controversial

Patients and methods: Our study was conducted on patients of 46, XX DSD referred to pediatric endocrinology clinic in Alexandria University Children's Hospital. We studied the age of these patients at presentation, degree of civilization, presence of adrenal crisis, hormonal assay and radiological findings. We compared the early [done before the age of 2 years] versus late [done after the age of 2 years] surgical intervention done to these patients. We assessed these patients after at least six months of feminizing surgery, the assessment included the genital anatomical assessment, overall cosmetic results and further treatment recommendations

Results: In our study, there were 35 patients with early intervention and 26 patients with late intervention. Good cosmetic results were found more significantly in the early group [94.3%] in comparison to only 19.2% in the late group. Good cosmetic results [97.4%] are found more with the one stage operations

Conclusions: After doing the anatomical assessments, cosmetic results and assessing the need for further treatment recommendations, we can state that early feminizing genitoplasty has better anatomical and cosmetic results than late intervention

Factor V Leiden and prothrombin G20210A gene mutations in women with a history of thrombosis during pregnancy relation to pregnancy outcomes for mother and fetus

To investigate the presence of factor V Leiden [FVL], and prothrombin gene mutations [PRT], protein C and protein S in pregnant women with a previous history of thromboembolism, and evaluate their impact on maternal and fetal outcomes. This study was carried out at Ain Shams University Hospital, Cairo, Egypt between January 2006 to March 2008. The study included 15 pregnant females without a history of thromboembolism [control group], and 25 pregnant females with a history of previous thromboembolism during pregnancy, and puerperium [patient group]. Identification of FVL and PRT mutations by real-time quantitative polymerase chain reaction, and estimation of protein C and S activity by functional clotting assay were performed. Regarding the control group; one patient had FVL mutation [6.6%], and one had decreased protein C activity [6.6%]. As regard the patient group 13/25 [52%] bad normal genotype, and 12/25 [48%] expressed abnormal genotype either FVL or PRT G20210A, or both. Also 3/25 [12%] patients had decreased protein C activity, and 2/25 [8%] had decreased protein S. The intrauterine growth retardation [IUGR] less than the tenth percentile was more in the patients group [48%] compared to the control group [33%], while there was no statistically significant difference between both groups on preeclampsia, placental abruption, abortion, or IUGR less than the fifth percentile. The FVL was not associated with any adverse outcomes, while the PRT mutation was significantly associated with IUGR less than the fifth percentile. The results of this study shows that good monitoring of fetal growth is mandatory for all carriers of the PRT gene mutation

Role of melatonin in modulation of oxidative stress induced by delta-aminolevulinic acid in adult male albino rats

Delta-aminolevulinic acid [ALA] is a heme precursor that accumulates in acute intermittent porphyria [AlP] due to enzymatic deficiencies in the heme biosynthetic pathway, its accumulation has been associated with several symptoms because it works as an endogenous source of reactive oxygen species, which can exert oxidative damage to cell structures. The present work was designed to examine the ability of melatonin, a well known antioxidant and a free radical scavenger secreted from the pineal gland, to revert ALA-promoted damage in brain, liver and kidney of rats. The present data demonstrated that chronically ALA-treated rats [40 mg / kg body wt day after day for 14 days] exhibited very highly significant increases in malondialdehyde [MDA] and protein carbonyl [PC] whereas the level of glutathione [GSH] was significantly diminished in the tissue homogenates of all tested organs [brain, kidney and liver]. Among antioxidant enzymes, superoxide dismutase [SOD], catalase [CAT], glutathione reductase [GSH-Rd], glutathione-S-transferase [GST] activities were significantly diminished by ALA treatment. Intraperitoneal injection of melatonin [10 mg / kg body weight, every day for 14 consecutive days] significantly ameliorated all the tested parameters. Melatonin moderately increased SOD, CAT, GSH-Rd and GST activities, thereby counteracting the oxidative stress induced by ALA. Nevertheless, exogenous ALA caused a strong net rise in MDA and PC and a significant decrease in GSH when given together with ALA, melatonin antagonized these effects and largely protected the integrity of tissue structures. From the present data, the protection of melatonin against ALA oxidative stress is obviously, so it is well recommended to use melatonin in patients suffering from symptoms related to ALA accumulation

Plasma trace element levels in infants and children with refractory epilepsies

To study the effect of long term use of antiepileptic drugs [AED] on plasma trace elements and the evolution of refractory seizures. Twenty three children were chosen to have persistent disabling seizures despite trials of all major anticonvulsants, alone and in combination, and with the highest doses the patient can tolerate. They were 13 males and 10 females with age range 2-14 years. Preliminary investigations were done to exclude cases with secondary seizures and those with low plasma levels of antiepileptic drugs. All of the patients were subjected to: thorough clinical and neurological evaluation, neuroimaging studies and assessment of plasma trace elements levels [Selenium, Copper, Magnesium and Zinc] using the atomic absorption spectrophotometry. According to the clinical and electroencephalographic patterns, the selected patients were subdivided into: cases with partial seizures including those with secondary generalization [group I] and cases with primary generalized seizures [group II]. Ten healthy children of matched age and sex were tested for plasma trace elements as a control group. Then after all of the patients were supplemented with trace elements medications [3-5ug/kg/day related to selenium] for three weeks and the response was followed up for 12 weeks. Plasma trace elements showed no significant differences between the 2 patients' groups [unpaired t-test, p>0.05]. Meanwhile, one way ANOVA showed significantly lower levels of selenium in all of the patients compared to the controls [p<0.001]. Correlation studies revealed a highly significant negative correlation between selenium levels and duration of AED [r = -0.81 and p=0.00]. Response to trace elements therapy was variable: complete response [cessation of seizures] in 25% of group I vs 33% of group II, partial or no response in 75% of group I vs 67% of group II. Response to trace elements has no significant associations with the type of sex, frequency and severity of seizures. The long-term use of AED may lead to trace element deficiencies with subsequent neuronal damage and evolution of resistant states. We recommend trace element supplementation especially selenium in patients under long term use of antiepileptic drugs

Neonatal gastrointestinal perforations

Neonatal gastrointestinal perforations continue to be associated with, high morbidity and mortality rates. The aim of this study was to define causes, risk factors, and management of neonatal gastrointestinal perforations; and to analyze factors relevant to outcome. The medical records of 45 neonates treated at Tanta University hospital for gastrointestinal perforations during the last 6 years were retrospectively reviewed. Forty-five infants [25 males and 20 females] were analyzed. Their birth weight ranged front 1100 to 3500 grams [mean 2200 +/- 750 grams]. Perforations occurred from birth to 26 days [mean 10.5 days]. Main causes of perforations included, necrotizing enterocolitis [NEC] [21, 46.7%], spontaneous gastroduodenal perforation [5, 11%], iatrogenic colorectal perforations [4, 8.8%], spontaneous intestinal perforations [3, 6.6%], Hirschsprung's disease [2, 4.4%], and meconium ileus [2, 4.4%]. The terminal ileum and cecum were the most frequent sites of perforation. All patients underwent laparotmy except one patient, who died prior to surgical intervention. There were 19 deaths [42.2%]. Nearly haIf of deaths [9, 47.4%] occurred in infants with NEC. 1 Septicemia, low birth weight, prematurity and delayed recognition of perforation were responsible for the majority of deaths in our series; 2: Although the overall mortality in this series compares favorably with similar other large series in the literature, there is still a root, for improvement should iatrogenic perforations and delay in diagnosis be avoided: and 3: Simple closure for isolated perforations or resection and primary anastomosis is the treatment of chronic, however, creation of stoma in some instances may be warranted