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1.  The Effect of Vitamin C on Endothelial Function of Children with Type 1 Diabetes: An Experimental Study 
Background:
Considering the importance of improvement of endothelial function in patients with type 1 diabetes mellitus (DM) and to prevent its related micro- and macro-vascular complications; in this study, the effect of vitamin C administration on improving endothelial function of children with type 1 diabetes was investigated.
Methods:
In this analytic-experimental study, children with type 1 DM aged 6-18 years and a group of healthy children enrolled. Vitamin C (250 mg/daily) administrated for the two studied groups for 1-month. Endothelial function evaluated by flow-mediated dilatation (FMD) and intima-media thickness (IMT) measurement using vascular Doppler ultrasonography, before and after trial.
Results:
In this study, 18 patients with type 1 diabetes (DM) and 19 normal children as the control group were studied. After vitamin C administration IMT reduced in all studied groups (P < 0.05). FMD increased in all studied groups, but it was significant only in the control group (P = 0.02 in the control group and P = 0.07 in patients with DM). Mean differences of IMT 2 – IMT 1, FMD 2 – FMD 1 and left ventricular (LV) mass 2 – LV mass 1 and blood pressure (BP) were not significantly different in two studied groups (P > 0.05). Mean differences of IMT 2 – IMT 1, FMD 2 – FMD 1, LV mass 2 – LV mass 1 and BP were not significantly different in patients with HbA1c ≤ 7 g/dl and those with HbA1c >7 g/dl and control group (P > 0.05).
Conclusions:
The findings of the current study indicated that vitamin C may have a protective effect on endothelial dysfunction, but regarding its effectiveness among the high-risk population such as diabetic patients with and without appropriate glycemic control the study was not sufficiently powered due to its small sample size.
PMCID: PMC4258680  PMID: 25489448
Endothelium; type 1 diabetes; vitamin C
2.  Protein-energy Malnutrition in Goitrous Schoolchildren of Isfahan, Iran 
Background:
Some studies have shown the possible role of protein-energy malnutrition (PEM) in persistence of endemic goiter in iodine replenished areas. The present study was conducted to assess the association between PEM and goiter in schoolchildren of Isfahan, Iran.
Methods:
In a cross-sectional study using multistage cluster random-sampling, 2331 schoolchildren with age ranged from 6-13 years old with a female to male ratio of 1.60 were enrolled. Thyroid size was examined by two endocrinologists for goiter detection. Children were considered goitrous if they had palpable or visible goiters according to World Health Organization (WHO)/United Nations children's Fund/International Council for the Control of Iodine Deficiency criteria. Weight and standing height were measured using the standard tools and anthropometric indices were calculated using the WHO AnthroPlus software developed by the World Health Organization. Height-for-age Z-scores (HAZ), weight-for-age Z-scores (WAZ) and body mass index (BMI) for age were calculated for each child. Children with a HAZ, WAZ or BMI-for-age of Z-score < –2.0 were classified as stunted, underweight or thin, respectively. Blood samples were drowned to measure serum thyroid hormones.
Results:
Overall, 32.9% of subjects were classified as goitrous. Weight, height, BMI, WAZ and BMI-for-age Z-score were significantly lower in children with goiter than in children who did not have goiter (P < 0.05). The prevalence of goiter in thin children was higher than that in non-thin ones (48.4 vs. 31.6%, odds ratio [OR]: 2.02, 95% confidence interval [CI]: 1.52-2.69, P < 0.001). Although 33.4% of non-stunted children were goitrous, 31% of stunted ones had goiter (P = 0.5). According to the logistic regression model taking sex and age as covariates, the only significant parameter affecting palpable goiter detection was thinness (OR = 2.13, 95% CI: 1.22-3.69, P < 0.001).
Conclusions:
In the present study, we found a high prevalence of goiter in children who were malnourished. It seems that PEM may play a role in the still high prevalence of goiter in this region.
PMCID: PMC4050673  PMID: 24932384
Body mass index-for-age Z-score; goiter; height-for-age Z-score; Iran; protein-energy malnutrition; weight-for-age Z-score
3.  Prevalence of Permanent Congenital Hypothyroidism in Isfahan-Iran 
Background:
Considering the importance to determine the reasons for the higher occurrence of congenital hypothyroidism (CH) in Iran, in this study we report the prevalence of permanent CH (PCH) in Isfahan province 7 years after initiation of CH screening program in Isfahan.
Methods:
In this cross-sectional study, children with a primary diagnosis of CH studied. They clinically examined and their medical files were reviewed by a pediatric endocrinologist. Considering screening and follow-up lab data, radiologic findings and the decision of pediatric endocrinologists the final diagnosis of PCH was determined.
Results:
A total of 464,648 neonates screened in Isfahan province. The coverage percent of the CH screening and recall rate was 98.9% and 2.1%, respectively. A total of 1990 neonates were diagnosed with primary CH. PCH was diagnosed in 410 neonates. The prevalence of PCH and transient CH (TCH) was 1 in 1133 and 1 in 294 live births. The most common etiology of CH was thyroid dyshormonogenesis.
Conclusions:
Though the prevalence of PCH is high, but the higher prevalence of CH in Isfahan is commonly due to cases with TCH. Hence, the necessity of determining new strategies for earlier diagnosis of patients with TCH is recommended.
PMCID: PMC3898441  PMID: 24498491
Congenital hypothyroidism; permanent; transient
4.  The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism 
Background:
Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis
Methods:
In this case–control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method.
Results:
In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients’ group.
Conclusion:
Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.
PMCID: PMC3570912  PMID: 23412840
Congenital hypothyroidism; dyshormonogenesis; G395R; mutation; sodium/iodide symporter (NIS) gene
5.  A Case of Congenital Lipoid Adrenal Hyperplasia 
Lipoid congenital adrenal hyperplasia (lipoid CAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. In this disorder the synthesis of glucocorticoids, mineralocorticoids and sex steroids is impaired which result in adrenal failure, severe salt wasting crisis and hyperpigmentation in phenotypical female infants irrespective of genetic sex. In this report, we presented a 28-day-old phenotypic female infant, which referred with lethargy, failure to thrive and electrolyte abnormalities. Considering the clinical and biochemical findings, lipoid CAH was diagnosed and replacement therapy with standard doses of glucocorticoid and mineralocorticoid and sodium chloride was initiated. During follow-up, she had good clinical condition, but at 6 years of age, she refers with hypertension and adrenal insufficiency because of arbitrary drug discontinuation by mother. In ultrasonography an abdominal mass (the testicles) was reported. Chromosome study showed 46XY pattern. Orchiectomy was performed. We recommended that in cases with clinical presentation of adrenal insufficiency if there is not the facility to determine the karyotype, repeated ultrasonography perform during follow-up. In addition, investigating the genetic bases of the disorder would help us to determine the pathogenesis of lipoid CAH in our community. It would be helpful in prenatal diagnosis and treatment of the disorder to prevent its related comorbidities.
PMCID: PMC3415193  PMID: 22891154
46XY; failure to thrive; lipoid congenital adrenal hyperplasia
6.  The Role of Maternal Thyroid Stimulating Hormone Receptor Blocking Antibodies in the Etiology of Congenital Hypothyroidism in Isfahan, Iran 
Background:
Considering the role of maternal thyroid stimulating hormone (TSH) receptor blocking antibody (TRAb) in the etiology of congenital hypothyroidism (CH), this study aimed to determine TRAb among patients with CH in Isfahan, Iran.
Methods:
In this case–control study, patients with CH and their mothers were compared with a group of healthy neonates and their mothers. Venous blood samples were obtained for measurement of TRAb using enzyme-linked immunosorbent assay (ELISA) method among mothers and their neonates. TSH of mothers was also determined.
Results:
The case group consisted of 65 patients with CH and their mothers; controls were 148 healthy neonates and their mothers. The prevalence of positive TRAb in patients with CH and their mothers was higher than in the control group (81.5% vs. 1.3% in mothers and 80% vs. 0% in neonates, respectively, P<0.05). The relationship between the TRAb and occurrence of CH was significant (P<0.05), whereas the corresponding figure was not significant for TRAb and the level of maternal and neonatal TSH in case and control groups (P>0.05).
Conclusion:
It seems that autoimmunity has an important role in the etiology of CH. Further studies are necessary to determine other autoantibodies in CH patients.
PMCID: PMC3278878  PMID: 22347610
Congenital hypothyroidism; etiology; thyroid stimulating hormone receptor blocking; autoimmunity
7.  Outcome of Congenitally Hypothyroid Screening Program in Isfahan: Iran From Prevention to Treatment 
Objectives:
Early and proper treatment is crucial to prevent neuropsychologic deficits in congenital hypothyroidism (CH). Considering the high prevalence of CH in Isfahan, the aim of this study was to evaluate the outcome of treatment in CH patients.
Methods:
In this study CH neonates diagnosed during screening program in Isfahan from May 2002 to September 2009 were studied. Frequent visits were performed to CH patients to monitor and follow their treatments. Quality of treatment was assessed by evaluating mean age of treatment initiation and mean TSH and T4 levels before and after treatment and during the first and second years according to their normal reference ranges.
Results:
Of 225,224 screened neonates, 536 were diagnosed as CH patients. The prevalence of CH was 1/420 live births. Mean age at starting treatment was 22.9 ± 13.2 days. In 93.7% of patients, treatment was begun before the 45th day of life. In the first measurement after initiating the treatment, T4 and TSH were not in their acceptable range in 3.9% and 9.8% of CH patients, respectively. Mean T4 and TSH reached to normal range during the treatment period. T4 reached the normal range earlier than TSH.
Conclusions:
The mean age of treatment initiation was in acceptable range but the findings suggest that both early and high-dose treatments are crucial for optimal treatment, especially in patients with severe CH. Further studies are needed to determine the outcome of treatment specially regarding to different etiologies of CH.
PMCID: PMC3075477  PMID: 21566768
Congenital hypothyroidism; Treatment; Isfahan; Iran

Results 1-7 (7)