Genotype-phenotype correlation in patients with Familial Mediterranean Fever: Evaluation of E148Q and M694V mutations

Familial Mediterranean Fever [FMF] is an autosomal recessive disorder characterized by self-limited episodes of fevere and painful recurrent polyserositis that predominantly affects Mediterranean races. In recent years some reports have shown high prevalence of FMF in North-west Iran, with M694V and E148Q being most frequent reported mutations. The aim of this study is to evaluate the clinical manifestations of FMF in patients with these mutations. A cross sectional- descriptive study was performed in a 1 year period [January 2007. January 2008] 71 patients younger than 18 years with clinical diagnosis of disease proved in Children Hospital of Tabriz-Iran were referred to genetic lab for mutation analysis. ARMS-PCR and PCR-RFLP were used to detect mutations. Only 45 patients were shown to have identified mutations and 41 patients among them had M694V and E148Q mutations which were assessed for various clinical manifestations. M694V and E148Q mutations were seen in 55.7 and 35.5 patients respectively. Patients homozygous for M694V were found to have earlier age of onset, longer duration of attacks, higher prevalence of positive family history and more complications. In our patients, prevalence of some manifestations differed from other ethnic groups reported previously. M694V mutation in FMF patients especially in homozygous state is accompanied with more severe disease and more complications

onset time of lactation afterdelivery

As any delay in the onset of milk production and ejection in the first few days after delivery can cause breast-feeding failure, this study has been done to determine factors that may affect the onset time of lactation in vaginal and cesarean section deliveries with and without labor pain [elective].300 parturient mothers selected from two private and university hospitals were divided in three separate groups [each consisted of 100 cases] according to their delivery type [vaginal and cesarean section with and without pain [elective], interfering factors like mothers' or newborns' illnesses were omitted, the needed information about filling of breasts and milk ejection was given to mothers before parturition, then a questionnaire was provided and offered to them, data collected and statistical analysis carried out.There was a meaningful difference between average time of milk-ejection in groups with different types of delivery [p= 0.001], but no difference was found between elective cesarean section and cesarean section with labor pain [p= 0.741].We found that milk-ejection time has a strong correlation with type of delivery [r= 0.510] and also the time of taking the neonate back to mother [r = 0.256], and this correlation is statistically meaningful [p= 0.000].Any kind of stress including cesarean section may postpone milk ejection by hormonal inhibition for a few days after delivery and this will result in newborn weight loss and failure of nursing by the mother. So, to support breast feeding in our country, the rate of cesarean section must be wisely diminished, vaginal delivery encouraged, and after delivery every newborn taken back to his or her mother as soon as possible for nursing

[Comparison of serum zinc and copper levels between term and preterm neonates cord blood and their mothers' blood]

Zinc and copper belong to the essential trace metals needed for optimal growth and development. Measurement of serum zinc and copper in maternal blood and cord blood of neonates was carried out to study and compare the level of trace metals in term and preterm neonates and their mothers. 152 healthy neonates, both term and preterm and their mothers were selected. Measurement of serum zinc and copper was carried out by atomic absorption spectrophotometer. The mean serum zinc level in the term neonates and their mothers was 0.83 microg/ml and 0.62 microg/ml respectively. The mean serum zinc level in the preterm neonates and their mothers was 0.78 microg/ml and 0.47 microg/ml respectively. The mean serum copper level in the term neonates and their mothers was 0.55 microg/ml and 2.29 microg/ml respectively. The mean serum copper level in the preterm neonates and their mothers was 0.63 microg/ml and 2.17 microg/ml respectively. Cord blood zinc level was significantly higher and cord blood copper level was significantly lower than the corresponding maternal blood levels [p<0.05]. There was no significant difference between cord blood zinc and copper levels in term and preterm neonates. The serum levels of zinc in both maternal and cord blood seem to be lower in our sample population compared to the levels found by other authors

prophylactic effect of lactulose on neonatal hyperbilirubinemia by acceleration of meconium passage

One of the causes of neonatal hyperbilirubinemia is increased reabsorption of bilirubin from meconium in the gastrointestinal tract. This occurs when the conjugated bilirubin which is excreted into the colon is unconjugated by beta glucuronidase activity, present in the neonatal intestine, which hydrolyzes bilirubin diglucuronide into unconjugated bilirubin, which subsequently is reabsorbed into the portal circulation, contributing to the bilirubin overload on hepatic excretory pathways. Thus, delayed passage of meconium can cause an elevation in the serum bilirubin level. We accelerated meconium transit by lactulose and evaluated the relationship between meconium passage, neonatal jaundice and bilirubin level. 150 newborns were selected after birth in Tabriz Al-zahra Hospital with special criteria. Half of them were given 4.5-5 mL lactulose by gavage 2 hours after birth. Time of meconium passage, appearance of jaundice and level of bilirubin were studied in both groups. Results showed that 40% of neonates in the study group and 26.6% in the control group were non-icteric. Bilirubin level more than 12 mg/dL was seen in 28% of the study group and 53.4% of neonates in the control group. There was a statistically significant correlation between lactulose receivers and the control group [p=0.0028]. This investigation showed that acceleration of meconium passage in newborns decreases the incidence of jaundice and hyperbilirubinemia