MEFV mutations in Iranian Azeri Turkish patients with familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder with more than 60 disease-associated mutations in the responsible gene, MEFV. In the present study, we determined 15 MEFV mutations in Iranian Azeri Turkish FMF patients. Five hundred and twenty-four unrelated patients were tested for 15 known mutations in the MEFV gene using amplification refractory mutation system-polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism methods. Thirty-five different genotypes were characterized among the studied patients. Of the alleles investigated, the most common mutation was p.M694V (42.4%), followed by p.V726A (17%), p.E148Q (16.2%), and p.M680I (c.2040G>C) (15.2%). The p.R761H mutation (4.7%) was found to be the most frequent among the rare mutations. The mutations p.M680I (c.2040G>A), p.I692del, p.M694del and p.K695R were not found in this cohort. The remaining mutations account for 7.7% of the identifiable mutations. Five different types of complex alleles were also identified. The results show the diversity and the frequency of the mutations in the Iranian Azeri Turkish FMF patients. The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group.

Immunogenicity of neonatal BCG vaccination in children entering primary school.

This study has been designed to evaluate the immunogenicity of neonatal BCG-vaccination in children at the age of 7 to 8 years, by skin test using Purified Protein Derivative (PPD), as BCG vaccination at birth is a part of routine program of immunization in our country, Iran; we decided to study its efficacy and also tried to determine if there is any correlation between PPD-test results and BCG scar size. This is a comparative study on 150 children (94 males and 56 females) at the age of 7 to 8 years, who possess neonatal-BCG scar. They were chosen from several primary schools in Tabriz-Iran, by simple random sampling and tested with 0.1 mL of 5-unit-PPD solution (a product of Iran Institute of Razi); then observations recorded. The average diameter of BCG scars were 7.03 mm in girls, 5.45 mm in boys and 6.05 for all. The diameter of induration area resulted from PPD-test after 72 h was less than 5 mm in 95.33% and 5-9 mm in 4.66% of studied children; there was no case with induration area of 10 mm or more at all. Every child who developed an induration area of 5 mm or more by PPD test, had a BCG scar with the diameter of 5 mm or more. There was a statistically meaningful direct correlation between sizes of neonatal-BCG scar and diameter of induration area after PPD-test (r = 0.21 and p = 0.008). This study shows that reactivity to PPD test (and probably immunity against tuberculosis) decreases as age increases; therefore it seems to be necessary to repeat BCG-vaccination in children at the age of entering primary school.

The role of the procalcitonin in diagnosis of neonatal sepsis and correlation between procalcitonin and C-reactive protein in these patients.

The goal of this study was to investigate the role of procalcitonin (PCT) in diagnosis of neonatal sepsis and its correlation with C-Reactive Protein (CRP). One hundred and seventeen neonates with the gestational age > or = 35 weeks with clinically suspected diagnosis of neonatal sepsis were studied during one year from 2007 in Tabriz Children's Hospital. Conventional sepsis workup was done in all cases and the diagnosis of neonatal sepsis was proved based on the results of blood culture. The serum procalcitonin was measured by quantitative Chemo-luminance methods and the results were compared with CRP levels between the neonates with and without proven sepsis. The results showed among in 117 neonates with suspected sepsis 27 (23.1%) cases have positive blood culture (proven sepsis). The mean levels of PCT in neonates with and without proven sepsis was 4.42 +/- 6.66 vs. 2.06 +/- 4.03 ng mL(-1) and CRP 33.98 +/- 36.81 vs. 12.30 +/- 20.42 mg L(-1) were significantly higher in neonates with proven sepsis (p = 0.026 and p < 0.001). The sensitivity, specificity, positive predictive value and negative predictive value of PCT (more than 2 ng mL(-1)) were 66.7, 50, 28.6, 83.3 and CRP (more than 3.5 mg L(-1)) were 70.4, 72.2, 43.2 and 89%, respectively, in diagnosis of neonatal sepsis. There was a meaningful correlation between the level of PCT and CRP in the sepsis group (r = 0.797, p < 0.001). The results of the current study showed that more relying on the level of PCT and CRP for planning the management of neonates with suspected sepsis is not logical, but a negative result may be helpful in ruling it out.

Cardiac involvement of major thalassemia and evaluation of total serum creatine kinase and creatine kinase-mB isoenzyme and cardiac troponinI in these patients.

The goal of this study was the evaluation of specific markers of myocardial injury that includes CK-MB and troponin I in major thalassemic patients. Regular blood transfusion is the main treatment in major thalassemia. One of the most important complications of regular blood transfusion is iron overload that eventually involves many organs like heart and cause myocardial injury. Sixty patients with transfusion-dependent major thalassemia, at the age range of 8 to 15 years in Tabriz Pediatric Medical Center were chosen. Measurement of Hb, Hct and serum ferritin were performed in hospital laboratory, but total serum Creatine Kinase (CK) by photometric and isoenzyme of CK-MB by immunologic DGKC and cardiac troponin I (cTnI) were tested by ELISA methods in Shaheed Madani heart center laboratory before blood transfusion. For all patients echocardiography and ECG assessment of cardiac function were done by a pediatric cardiologist and results were statistically analyzed. Forty nine patients (group A) had normal left ventricular ejection fraction (LVEF = 50-70%) and 11 patients (group B) had reduced LVEF (20-45%). There was no statistical difference between two groups in average volume of blood transfusion (p = 0.074). Although total CK and CK-MB isoenzyme were higher in group B but there was no statistically meaningful difference between two groups (p = 0.123, p = 0.111). Troponin I also was higher in group B but statistically analysis showed no correlation between cardiac function and troponin I level in these groups (p = 0.827). This study showed that cardiac markers are not helpful for recognition of cardiac involvement in major thalassemia.

Training for perfect breastfeeding or metoclopramide: which one can promote lactation in nursing mothers?

BACKGROUND: One of the most common complaints of nursing mothers in a few days after delivery is insufficient lactation. This is known to be partly due to the mothers' deficient knowledge of proper breastfeeding and often results in the beginning of bottlefeeding, which finally diminishes or ceases their breastfeeding. Considering the valuable effects of breastfeeding on nutritional, immunologic, and emotional aspects of infants' health, we planned this study to find out whether training of nursing mothers for breastfeeding can enhance their lactation; also, we tried to compare the effects of metoclopramide on lactation with those of training. METHODS: Throughout 2006, we consecutively enrolled 20 primipara nursing mothers who were referred to Tabriz Children's Hospital, Tabriz, Iran for counseling about prescription of infant formula as a response to their complaint of insufficient lactation during a couple of months after parturition. Only those mothers were included in this study whose newborns had failed to gain appropriate weight, determined by their age and birth weight. First, all newborns were weighed, and all mothers passed a short training course about "perfect practice of breastfeeding"; then we randomly allocated them in two equal groups of 10 mothers-one group received a metoclopramide tablet (10 mg/dose every 8 hours), and the other just placebo, both for a period of 15 days. Thereafter we weighed the newborns again and compared the two recorded weights of each infant and the average weight of the two groups with each other to assess the sufficiency of breastfeeding and effects of training and galactogogue. RESULTS: Eighteen of the 20 newborns studied (90%) showed an appropriate weight gain: 12 newborns gained 385-415 g (mean, 400 +/- 15 g), six neonates gained 270-315 g (mean, 292.5 +/- 22.5 g), but the remaining two newborns gained 150-235 g (mean, 192.5 +/- 42.5 g). Statistical analysis revealed that training of nursing mothers for perfect breastfeeding (with or without metoclopramide consumption) has a significant improving role in infants' weight gain (p < 0.001); however, there was no statistically meaningful difference between the two treatment groups (with and without administration of metoclopramide, p = 0.68). CONCLUSIONS: Counseling nursing mothers for proper lactation before delivery and their continued training thereafter are the main clinical pathways toward a successful and sustained breastfeeding.