Clinical and genetic features in patients with cystic fibrosis in southwestern Iran

Cystic fibrosis [CF] is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory [CFTR] gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran. Twenty nine common CFTR gene mutations were examined in 45 CF patients. Chronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was deltaF508, with an allele frequency of 21%. The homozygous deltaF508 mutation was observed in eight patients [18%], and three patients [7%] were deltaF508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a deltaF508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a deltaF508 carrier. Out of 45 patients, 27 [60%] had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations

side effects of gonadotropin releasing hormone analog [Diphereline] in treatment of idiopathic central precocious puberty

Treatment of central precocious puberty [CPP] is the administration of GnRH analogs. Metabolic syndrome comprised metabolic disturbances that confer increased risk of [CVD] diabetes mellitus [DM] and cardiovascular disease. This study is a longitudinal prospective study in pediatric endocrinology clinic. 30 non-obese children with idiopathic CPP were involved. Total body weight, height, blood pressure, BMI and waist circumference of the patients along with their triglyceride [TG], total cholesterol [TC], low density lipoprotein [LDL], high density lipoprotein [HDL], fasting plasma sugar [FPS] were evaluated at the beginning and during 3 and 6 months GnRH analog therapy. All of the patients involved in this study were female with age 9.5 +/- 1.02 years. Waist circumference, weight and BMI were 69.3 cm, 37.21 kg, and 19.13 kg/cm[2] before therapy and 72.25 cm, 40.11 kg, and 19.54 kg/m[2] 6 months after therapy respectively. Mean systolic and diastolic blood pressure of the patients before therapy was 96.83 mmHg, 66mmHg and after 6 months therapy was 98.66 mmHg, 89.63 mmHg respectively. Mean TG, LDL, HDL and FPS were 90.06 mg/dl, 91.6 mg/dl, 43.7 mg/dl and 89.6 mg/dl before therapy and 96.4 mg/dl, 93.1 mg/dl, 44.7 mg/dl and 91.36 after 6 months therapy respectively. GnRH analog therapy doesn't cause metabolic syndrome after 3 and 6 month therapy but it may cause hyperlipidemia and central obesity

Investigation of the relationship between retinol binding protein 4, metabolic syndrome and insulin resistance in Iranian obese 5-17 year old children

Retinol-binding protein 4 [RBP4] has recently been reported to be associated with insulin resistance [IR] and the metabolic syndrome by a number of researchers in various populations. However, controversies are present among different studies, which might be due to the differences between various ethnic, age, and sex groups. This study aimed to determine whether RBP4 can be assumed as a marker of IR and the metabolic syndrome in the Iranian obese children. In the present longitudinal cross-sectional study, 100 5-17 years old obese children were recruited from January 1, 2011 to February 1, 2012. The patients' information including the demographic variables, health status and behavior, and daily physical activity were collected. Moreover, serum RBP4 was measured and correlated with the homeostasis model assessment of IR index [HOMA-IR], components of the metabolic syndrome, and lipoprotein metabolism. The results revealed a positively significant correlation between RBP4 and the HOMA-IR index [P=0.02]. Partial Spearman test also revealed a significant correlation between RBP4 plasma concentrations and the components of the metabolic syndrome, including waist circumference, systolic [but not diastolic] blood-pressure, and fasting blood sugar [P<0.05]. However, no significant correlation was observed between RBP4 and HDL [P=0.3] as well as triglycerides concentration [P=0.1]. Moreover, plasma RBP4 level gradually increased with the increasing number of the metabolic syndrome components. Regarding the results of the present study and previous investigations, RBP4 seems to be a suggestible predictive marker for both insulin resistance and metabolic syndrome in Iranian obese children; however, further studies are needed to be conducted among different ethnicities and age groups in order to determine the predictive value of this correlation

Diffuse hepatic calcifications in a transfusion- dependent patient with beta-thalassemia: a case report

Hepatic calcification is usually associated with infectious, vascular, or neoplastic processes in the liver. We report the first case of beta-thalassemia major with isolated diffuse hepatic calcification in a 23 year old woman, who had been transfusiondependent since the age of 6 months. She was referred to our center with a chief complaint of abdominal pain. Computed tomography scan of the abdomen revealed diffuse hepatic calcification in the right, left, and caudate lobes of the liver. Her medical history disclosed hypoparathyroidism as well as chronic hepatitis C virus infection, which was successfully treated but led to early micronodular cirrhosis on liver biopsy. Other studies done to search for the cause of hepatic calcification failed to reveal any abnormalities. We suspect that hypoparathyroidism caused liver calcification, and should be, therefore, considered in the differential diagnosis of hepatic calcification if other causative factors have been ruled out

Intraventricular hemorrhage in premature infants and its association with pneumothorax

Intraventricular hemorrhage [IVH] is one of the major causes of the cerebral palsy and mental retardation. Prevention and early management of these neurologic developmental problems will require determining the perinatal risk factors associated with this clinical entity. Pneumothorax increase the risk of IVH, and cause of pneumothorax has an important effect in severity of IVH. This is a prospective cross sectional study in 2010. This study includes 150 preterm neonates. Cranial ultrasound was performed in all neonates in age 3, 7, 30, 60, just after pneumothorax and every 2 week until chest tube discontinuation. Then prevalence of IVH and pneumothorax was calculated in preterm infant and severity of IVH was investigated before and after development of pneumothorax, and this comparison was divided by different causes of pneumothorax with SPSS version 11.5. Prevalence of IVH and pneumothorax in preterm infants were 30% and 10% respectively. Pneumothorax was not a risk factor of IVH [P>0.05], but prevalence of pneumothorax caused by RDS was a risk factor of development of IVH [P=0.01]. Also pneumothorax in patients with birth weight less than 1000 g and gestational age less than 28 week was a risk factor of IVH pneumothorax [P=0.008, P=0.01 respectively]. Our study discusses the differences in previous studies about association of pneumothorax and IVH. Also we suggest the hypothesis that lack of cerebral autoregulation in neonates with gestational age less than 28 week can cause IVH development after hypotension induces by pneumothorax.

Effect of posttraumatic serum thyroid hormone levels on severity and mortality of patients with severe traumatic brain injury

Traumatic brain injury [TBI] is an important cause of death and disability in young adults ,and may lead to physical disabilities and long-term cognitive, behavioral psychological and social defects. There is a lack of definite result about the effect of thyroid hormones after traumatic brain injury in the severity and no data about their effect on mortality of the injury. The aim of this study is to evaluate the effect of thyroid hormones after traumatic brain injury in the severity and mortality and gain a clue in brain injury prognosis. In a longitudinal prospective study from February 2010 until February 2011, we checked serum levels of T3, T4, TSH and TBG of severely brain injured patients and compared the relationship of them with primary Glasgow Coma Scale [GCS] score and mortality of patients. Statistical analysis used SPSS 11.5 software with using chi-square and Fisher exact test. Serum levels of T3 and T4 were decreased after brain trauma but not TSH and TBG. Mortality rates were higher in patients with lower T4 serum levels. The head injury was more severe in whom with low T3 and T4. Follow a severe brain injury a secondary hypothyroidism is happened due to pituitary dysfunction. Also, serum level of T3 and T4 on the first day admission affect on primary GCS score of patients which is an indicator of severity of brain injury. In addition, mortality rates of severely brain injured patients have a high correlation with the serum level of T4 in the first day admission

Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia

The cause of hyperbilirubinemia cannot be found in about 45% of cases of neonatal jaundice. Gilbert syndrome [GS] is the most common congenital disease associated with bilirubin metabolism in the liver. Since the screening value of genetic tests cannot be fully determined until accurate data on the prevalence and penetrance of the GS genotype are known, we sought to estimate whether the prevalence of GS is higher in the parents of neonates with severe unexplained indirect hyperbilirubinemia. Case-control study of parents of neonates with severe unexplained indirect hyperbilirubinemia admitted to a neonatal ward. We used the rifampin test [checked bilirubin before and 4 hours after administration of 600 mg rifampin] for diagnosis of GS in parents of 115 neonates with severe unexplained indirect hyperbilirubinemia. We compared the prevalence of GS in these parents with that of a control group of 115 couples referred for premarital counseling. The 115 neonates were aged 5.2 [1.6] days [mean, standard deviation], all were breast-fed, and males constituted 56.5%. Mean total serum bilirubin [TSB] level was 20.96 [5.48] mg/dL. 14.8% were glucose 6 phosphate dehydrogenase [G6PD] deficiency was present in 14.8%, and 10.4% had A, B or O blood group [ABO] incompatibilities with their mothers. There was no difference in the prevalence of GS between parents of the group with hyperbilirubinemia [22.2%] and the control group [19.13%] [P=.42]. Mean TSB in neonates with parents who had GS was more [about 3 mg/dL] than in neonates with normal parents [P=.004]. Fathers had GS twice as often as the mothers among the parents of neonates with hyperbilirubinemia [P=.003], among the control group [P=.009] and among neonates [P=.014]. This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD. Our results showed that in GS, males are affected about twice as much as the females