SOFT Syndrome: The First Case in Iran.

Primordial dwarfism (PD) is a group of rare genetically heterogeneous disorders consisted of disorders with intrauterine growth retardation continued through the life. SOFT syndrome with characteristics of short stature, onychodysplasia, facial dysmorphism, and hypotrichosis has been presented as a subtype of PD. Only 20 cases of SOFT syndrome have been reported in world to date, but none of them were not in Iran. Our case was 6.5-year-old girl with a complaint of growth retardation including height of 97 cm (Z = -4.6 standard deviation [SD]) and weight of 14 kg (Z = -4 SD) referred to growth clinic. She had a prominent forehead, triangular face, short limbs, malformed nails, and crowded teeth and her psychomotor function was normal. Laboratory and karyotype tests were normal while she was homozygous for c.G491A mutation of POC1A gene thus SOFT syndrome diagnosis was confirmed for her and recombinant growth hormone therapy was discontinued.

Twin Brothers with Carnitine Membrane Transporter Deficiency: A Case Study.

Carnitine membrane transporter deficiency or primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation, in which the transport of carnitine into cells is impaired. Carnitine plays an important role in transporting fatty acids into the mitochondria and carnitine deficiency block oxidation of long-chain fatty acids in the mitochondria that leads to heart and hepatic disease, myopathy, nonketotic hypoglycemia, and neurological complications. PCD has a wide range of symptoms and can reveal itself as symptomatic cardiomyopathy or even asymptomatic. In this study, we reported twin brothers with PCD. One of them had symptoms of disease and cardiomyopathy and was under treatment with carnitine. Another twin was asymptomatic and was diagnosed during follow-up period of his brother.

The Nomogram of Penile Length and Circumference in Iranian Term and Preterm Neonates.

BACKGROUND AND OBJECTIVES: The normal length of penis in preterm and term neonates is different among different nations, and is affected by various factors. The present study aimed to determine stretched penile length (SPL) values and cutoff level of micropenis in term and preterm Iranian neonates, for the first time. MATERIALS AND METHODS: All male neonates born in two general hospitals of Tehran (Akbarabadi, and Rasoul hospitals), center of Iran, with gestational age of 28-42 weeks were included and their SPL and penile circumference (PC) were examined on the first 3 days after birth by the same physician. Birth weight (BW), and height, gestational age, type of delivery, mother's age, twin/multiple pregnancy, drug, and medical history of mother during pregnancy were recorded and cutoff levels of two variables were calculated based on the collected variables for different gestational ages. RESULTS: Among a total of 587 neonates, 203 neonates were born term and 384 preterm. Mean ± SD of neonates' BW were 2,682.51 ± 739.30 (850-4800) gr. Mean ± SD of their SPL was 22.48 ± 3.34 mm; 25.92 ± 1.54 mm in term and 20.66 ± 2.50 mm in preterm infants (P = 0.001). Mean ± SD of PC was 6.71 ± 1.31 mm; 8.14 ± 0.48 in term and 5.96 ± 0.92 in preterm infants (P = 0.001). SPL and PC were significantly correlated with type of delivery, number of parity, gestational age, BW, and crown-heel length, head circumference (P < 0.001). CONCLUSION: This study suggested that SPL in male neonates was 22.48 mm and PC was 6.71 mm, both correlated with gestational age and BW. Due to the ethnical variety of this cutoff points and lack of an appropriate study in Iran, these cutoff points can be used by all physicians as a reference for Iranian newborns (term and preterm), in order to prevent misdiagnosis of micropenis and genital disorders.

Thrombotic Thrombocytopenic Purpura in a Child with Diabetic Ketoacidosis.

Thrombotic thrombocytopenic purpura (TTP) secondary to diabetic ketoacidosis has been rarely reported and is considered as a rare complication. If left untreated, this condition could be life threatening with considerable morbidity and mortality. Herein, we report a 6-year-old girl with reduced consciousness and respiratory distress with a history of polydipsia and polyuria in the 2 weeks before hospitalization. The patient was initially diagnosed as diabetic ketoacidosis based on clinical and laboratory findings and treated accordingly. After treatment and during hospitalization although she had gained relative consciousness, she experienced seizure and reduced consciousness again. Considering laboratory and clinical findings and the patient's underlying conditions (thrombocytopenia, renal failure, and high lactate dehydrogenase), TTP was suspected although ADAMTS13 test could not be done. Treatment with plasmapheresis was initiated, and after 48 h, the patient was conscious, and laboratory indices became normal within a few days. The patient was discharged after full recovery. TTP should be considered as a rare complication of diabetic ketoacidosis in patients with thrombocytopenia, renal failure, and reduced consciousness and should be immediately treated.

The effectiveness of cognitive-function stress management training in glycemic control in children and in mental health of mother caring for child with type 1 diabetes mellitus.

AIM: The study was aimed to evaluate the effectiveness of a training course of cognitive-behavioral stress management in glycaemia regulation in children with type 1 diabetes mellitus as well as in mental health status of their mothers. MATERIALS AND METHODS: Fifty children with type 1 diabetes mellitus and their mothers were selected and randomly assigned into two groups. A group of mothers (n=25; as experimental one besides their children) passed a course, eight 2-h sessions, on the cognitive-behavioral and stress management, and the control group received the usual care. To evaluate the effectiveness of the intervention, before and after holding the course, glycosylated hemoglobin (HbA1C) test was done on both groups of children, and also some information was collected from the mothers through interview and the DASS (depression, anxiety, stress scale) and PSI (parenting stress index) questionnaires. RESULTS: After the intervention, HbA1c level decreased in the experimental group. Feeling of depression, anxiety and stress was significantly lower than the control group. Furthermore, training for parenting stress management positively affected on the sense of demanding, reinforcement, and adaptability in child domain and also on attachment, competence, depression, relationship with spouse and family health in parent domain. CONCLUSION: The intervention program was significantly effective in reducing the amount of HbA1c in diabetic children, and also reduced the intensity of psychosocial problems such as depression, anxiety and stress in the mothers caring for children with type 1 diabetes.

Effect of folic acid and metformin on insulin resistance and inflammatory factors of obese children and adolescents.

BACKGROUND: Considering the increasing trend of obesity, especially in developing countries such as Iran, and the role of inflammatory factors and insulin resistance (IR) in the occurrence of obesity-related complications as well as the safety of some agents such as folic acid and metformin, this clinical trial was designed to investigate the effect of metformin and folic acid on inflammatory factors and IR among obese children. MATERIALS AND METHODS: In this randomized, double-blind, controlled clinical trial study, sixty obese children aged 6-12 years were enrolled. Selected obese children were randomly allocated in two interventional (1 mg/daily folic acid or 1000 mg metformin for 8 weeks) groups. Biochemical measurements including homeostasis model assessment of IR (HOMA-IR), homocysteine (Hcy), tumor necrosis factor-alpha (TNF-α), interleukin-6 (IL-6), and interleukin-8 (IL-8) were measured between and within the groups before and after trial. RESULTS: In each group, thirty obese children were studied. The groups were age- and sex-matched. After folic acid and metformin administration, mean of Hcy, HOMA-IR, TNF-α, and IL-8 decreased significantly (P < 0.05). IL-6 decreased significantly after folic acid use (P < 0.05). CONCLUSION: The findings of this trial indicated that both metformin and folic acid could decrease IR and level of Hcy in obese children and adolescents. The effectiveness of metformin on IR was more significant than folic acid. Regarding the effectiveness of the two studied agents on inflammatory factors, it is suggested that the role of folic acid was superior to metformin. It is suggested that metformin is a proper agent for obese children with IR and folic acid is an appropriate supplement for obese children with increased inflammatory factors.

Effect of folic acid on homocysteine and insulin resistance of overweight and obese children and adolescents.

BACKGROUND: Considering the increasing trend of childhood obesity and subsequent burden of the disease in Iran and other countries and importance of early life intervention for achieving sustained effect on health of children and adolescents, this study aimed to investigate the effect of two different dose of folic acid on homocysteine (Hcy) level and insulin resistance of obese children. MATERIALS AND METHODS: In this randomized, double-blind controlled clinical trial study, 60 obese and overweight children aged 5-12 years were enrolled. Selected obese children randomly allocated in two interventional (1 mg/day folic acid and 5 mg/day folic acid, for 8 weeks) and one control groups. Biochemical measurements including folic acid, Hcy, insulin and insulin resistance were measured between and within groups before and after trial. RESULTS: In each group, 20 obese children were studied. The three groups were age and sex matched. After folic acid administration, mean of Hcy, insulin resistance and insulin decreased significantly in two groups which folic acid administrated with two different doses (P < 0.05). The reduction in studied biochemical variables was similar in two interventional groups (1 and 5 mg folic acid daily) (P > 0.05). Mean differences for Hcy, insulin resistance and insulin, in two intervention groups were significantly higher than the control group (P < 0.0001). Mean differences of Hcy, insulin resistance and insulin, in two intervention groups were not different significantly (P > 0.05). CONCLUSION: The findings of current trial showed that folic acid in two studied doses could be a safe and effective supplement for obese children to reduce Hcy level and insulin resistance, which consequently could prevent obesity-related complications including cardiovascular and metabolic disorders.

Relationship between Serum Visfatin and Vascular Inflammation Markers Level in Beta Thalassemia Major Patients.

BACKGROUND: Understanding the possible role of visfatin in the pathogenesis of beta-thalassemia major (BTM) and its relationship with markers of endothelial function could help us to provide more effective therapeutic approaches for treatment of patients with BTM and its related complications. The aim of current study was to compare serum level of visfatin between patients with BTM and control group and determine its correlation with markers of endothelial function, intracellular adhesion molecule (ICAM) and vascular adhesion molecule (VCAM). METHODS: In this case-control study, patients with BTM receiving regular blood transfusion aged 10-20 years and a group of healthy subjects were enrolled. Selected subjects examined clinically and venous blood samples obtained for visfatin, ICAM, VCAM, cholesterol, triglyceride, high density lipoprotein cholesterol, low density lipoprotein cholesterol and ferritin measurements. Mean (standard deviation) of studied laboratory measurements compared in two studied groups and the relation between visfatin and ICAM, VCAM, ferrittin, body mass index determined. RESULTS: In this study 31 patients with BTM and 30 healthy controls studied. Mean of visfatin was significantly higher in patients with BTM than control group (133.9 ± 60.1 vs. 43.3 ± 27.9, P < 0.001). CONCLUSIONS: The higher level of visfatin among patients with BTM indicated the possible inflammatory role of this adipocytokine in BTM. It seems that for understanding the underlying mechanisms and its relation with vascular inflammatory markers and endothelial function further studies with larger sample size is needed.

The effects of folic acid on markers of endothelial function in patients with type 1 diabetes mellitus.

BACKGROUND: Endothelial dysfunction is considered as a fundamental and also preventable factor in the progression of vascular complications among type 1 diabetic patient. It occurs before the clinical manifestation of the mentioned complications. The aim of this study was to evaluate the effects of folic acid on endothelial function by measurements of adhesion molecules and von Willebrand factor (vWF) in patients with type 1 diabetes in Isfahan, Iran. METHODS: This double blind, placebo-controlled crossover trial included type 1 diabetic patients aged 5-20 years old. Selected patients were randomized into two groups of A and B to receive folic acid 5 mg daily or placebo for 8 weeks. After a 2-week washout period, patients in the two groups were swapped to receive placebo or folic acid, respectively, for another 8 weeks. Blood and urine samples were taken to evaluate glycosylated hemoglobin (HbAlc), folic acid, vWF, intracellular adhesion molecule (ICAM), vascular cell adhesion molecule (VCAM), and microalbuminuria levels. Results of these measurements were compared in the two groups before and after folic acid and placebo administrations. RESULTS: Fifty five type 1 diabetic patients aged 12.1 +/- 3.4 years with diabetes duration of 3.9 +/- 2.1 years were enrolled. Mean of folic acid level in the two studied groups was increased significantly (10.1 +/- 3.8 vs. 21.2 +/- 1.1 in group A and 15.5 +/- 1.9 vs. 19.9 +/- 2.8 in group B, p < 0.05). Mean of VCAM and microalbuminuria was decreased significantly after folic acid administration in the two groups (p < 0.05). Mean of HbA1c, ICAM and vWF did not significantly change after folic acid administration in the two groups (p > 0.05). CONCLUSION: Folic acid administration decreased the level of endothelial dysfunction measured by adhesion molecules, especially VCAM and microalbuminuria. However, it did not significantly affect vWF. Further studies with larger sample size and long-term administration of folic acid are necessary for making precise decisions in this field. Key words: endothelial function, Diabetes Mellitus, folic acid.

Von Willebrand factor, and soluble intercellular and vascular cell adhesion molecules as indices of endothelial activation in patients with congenital hypothyroidism.

UNLABELLED: Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan, the possible involvement of endothelial dysfunction in the pathogenesis of CH and the lack of studies in this field, the aim of this study was to determine the endothelial function in CH patients. METHODS: During this case-control study, the endothelial function in CH neonates and in those with normal screening results was evaluated during a CH screening program in Isfahan. Peripheral blood samples were obtained for measurement of the von Willebrand factor (vWf), and intercellular and vascular cell adhesion molecule (ICAM and VCAM). In CH patients these biomarkers were measured twice: before and 4 weeks after treatment. RESULTS: In this study, 56 neonates were evaluated: 30 of them were neonates with normal screening results and 26 were diagnosed with CH and classified into two groups according to their TSH levels. The mean ICAM and VCAM were higher in CH patients than in the control group (p < 0.05). The mean ICAM and VCAM decreased significantly after treatment in CH patients (p < 0.05). There is no significant relationship between TSH, ICAM, VCAM and vWf (p > 0.05). CONCLUSION: The findings of this study demonstrate the possible involvement of the endothelial system in the pathogenesis of CH and its cardiovascular complications. Further studies with a larger sample size and with the measurement of other endothelial function markers are needed.

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.