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Objectives Dietary phenylalanine restriction is the main treatment of phenylketonuria (PKU, OMIM 261600). There are a number of studies which have demonstrated growth retardation in these patients, and some are in contrast. This study was performed to assess the growth parameters of treated PKU patients. Materials & Methods This cross-sectional study was performed between 2015 and 2017 to compare growth indexes in PKU patients in our clinics with normal age and sex matched controls. Weight, height, head circumference (HC), weight for height and BMI (weight/height2) were measured and converted into Z-scores. We assessed differences between patients and controls' anthropometric indices in all patients and separately in patients who were diagnosed by newborn screening program and patients who were diagnosed after presentation of clinical manifestations in comparison with age and sex-matched controls. Also, this difference was assessed separately in patients aged two years and less. Correlations between pretreatment plasma phenylalanine concentrations mean plasma phenylalanine concentrations and anthropometric parameters were analyzed in the patients. Results Overall, 209 under-treatment PKU patients (103 males, 106 females; mean age 9.29 ± 8.7 years) and 216 controls (109 males and 107 females; mean age 8.98 ± 8.62 years) matched in terms of age, sex and birth weight were enrolled in this study. In general, 130 patients were diagnosed by newborn screening and 79 were diagnosed when they became symptomatic before the screening program. A significant difference (p=0.000) was found only in HC z-score and weight for height z-score in comparison with the control group, when we assessed all patients. We did not find any significant differences in any of the anthropometric indices between cases and controls who were aged 2 years old and less. Head circumference SDS and weight for height SDS were significantly different when patients and controls who were more than 2 years old were compared. Mean HC was significantly lower in patients, while BMI SDS, weight SDS, and weight for height SDS were significantly higher in PKU patients in comparison with the control group when patients who were diagnosed in newborn screening were assessed. Head circumference SDS, BMI, height SDS and difference between patients' height SDS and mid parental height SDS had significantly lower mean scores in comparison with those of the control group, while mean weight SDS was significantly higher compared to controls when patients who were diagnosed after clinical presentation were assessed. Mean phenylalanine was not correlated with anthropometric indices, while there was a correlation between pretreatment phenylalanine and HC. Conclusion Disparities in anthropometric indexes changes observed in different studies may be due to diverse diet protocols, availability of various specific products and micronutrient substitutes. [ABSTRACT FROM AUTHOR]

Following aspiration of grass inflorescence, it often migrates to the peripheral part of the airway due to its unique shape. It often causes complications like chronic pneumonia, recurrent asthmatic attacks, lung abscess, recurrent hemoptysis, and bronchiectasis that may necessitate surgical intervention. In this case, we have reported a 13-year-old boy with grass inflorescence aspiration. The bronchoscopic procedure failed to remove the foreign body, so he underwent thoracotomy. [ABSTRACT FROM AUTHOR]

Background: Gestational weight gain is an impressive factor in the fetal outcome. Intrauterine growth restriction (IUGR) is one of the most important problems during fetal period that may lead to many perinatal and long-term complications and growing neonatal morbidities and mortalities. The aim of the study was to ascertain the relationship between umbilical cord blood leptin concentration and fetal growth in neonates born with intrauterine growth restriction. Methods: Maternal serum and umbilical cord blood leptin concentration were measured by immune radiometric assay at term gestation. The study was conducted on 22 women with uncomplicated singleton pregnancies as control group (group A) and 22 women with fetal growth restriction in singleton pregnancies as case group (group B). All subjects had normal pregravid body mass index (BMI). Results: The results of the study showed that maternal serum leptin concentrations were significantly higher in group B comparing to group A (44ng/ml [28.9-58.2] vs. 24.6ng/ml [18.8-33.3]; P<0.001). However, umbilical cord blood leptin levels were significantly lower in group B comparing to group A (8.6 ng/ml [range 4.5-12.7] vs. 14.6 ng/ml [11.7-16.7]; P<0.001). Moreover, umbilical cord blood leptin levels were directly correlated with maternal BMI and neonatal birth weight in both groups. Conclusion: In growth-restricted fetuses at term, umbilical cord blood leptin concentrations were significantly lower than normal fetuses, suggesting that fetal adipose tissue is a major source for leptin production. Maternal serum leptin concentrations were higher in the presence of a growth restricted fetuses. This increas may be due to early hypoxia or an intrinsic placental mechanism, by which small placenta produces more leptin as a compensatory mechanism. Human recombinant leptin may have some roles in the treatment of IUGR fetuses in future. [ABSTRACT FROM AUTHOR]

Objective: In Iran thyroid-stimulating hormone (TSH) based neonatal screening program is included in health care services from 2005 for detection of patients with primary congenital hypothyroidism (CH). This study was performed for a critical evaluation of the screening program primary congenital hypothyroidism in Fars province, Iran. Methods: From November 2006 to September 2007, TSH serum concentrations of 63031 newborns, 3 to 5 days old born in Fars province, were measured by heel prick. The newborns with TSH ≥5mIU/L were recalled for measurement of serumT4 and TSH in venous blood samples Findings: Of 127 recalled subjects, 43 were confirmed to be hypothyroid, showing a prevalence of 1:1465 with F:M ratio of 1.05:1. The most common clinical and radiological findings were prolonged jaundice (73%), large anterior fontanel (56%), wide posterior fontanel (55%), absence of distal femoral epiphysis (20%), and umbilical hernia (11%). Scintigraphy of the thyroid with 99mTC revealed eutopia (67.4%), hypoplasia (23.3%), agenesis (4.7%) and ectopia (2.3%). Conclusion: It is concluded that a cut off value of TSH≥5mIU/L overestimates recalling the number of patients with CH. The most common cause of congenital hypothyroidism is not dysgenesis of the gland and perhaps dyshormonogenesis in Iran is more common than what is reported in other countries. [ABSTRACT FROM AUTHOR]

Objective: Acute seizure attack is a stressful experience both for health care personnel and parents. These attacks might cause morbidity and mortality among patients, so reliable methods to control the seizure preferably at home should be developed. This study was performed to measure the time needed to control seizure attacks using intranasal midazolam compared to the common treatment (intravenous diazepam) and to evaluate its probable side effects. " Methods: This study was conducted as a not blind randomized clinical trial among 60 patients coming to™ Imam Ali Hospital, Zahedan, Iran. The patients were 2 months to 15 years old children coming to our emergency department suffering from an acute seizure episode. Intranasal midazolam was administered 0.2 mg/kg equally dropped in both nostrils for case group and intravenous diazepam was administered 0.3mg/kg via IV line for control group. After both treatments the time needed to control the seizure was registered by the practitioner. Pulse rate and Ch saturation were recorded at patients' entrance and in minutes 5 and 10 after drug administration. Findings: The time needed to control seizure using intranasal midazolam (3.16±1.24) was statistically shorter than intravenous diazepam (6.42+2.59] if the time needed to establish IV line in patients treated by intravenous diazepam is taken into account (P<0.001). The readings for O2 saturation or heart rate did not indicate a statistically significant difference between two groups of patients either at entrance or 5 and 10 minutes after drug administration. Conclusion: Considering the shorter time needed to control acute seizure episodes compared to intravenous diazepam and its safety record, intranasal midazolam seems to be a good candidate to replace diazepam, as the drug of choice, in controlling this condition. [ABSTRACT FROM AUTHOR]

Background: The oculocerebrorenal syndrome of Lowe (OCRL) is a rare x-linked recessive disorder first described in 1952. This syndrome is characterized by ocular involvement, mental retardation and kidney disease. The causative gene is OCRL1. Survival rarely exceeds 40 years. Case Presentation: A 13-year-old boy was referred because of short stature. In physical examination his height was 108.2 cm. He had poor growth, psychomotor retardation, severe hypotonia, congenital cataract which was operated on earlier in life, searching nystagmus, anti social behavior and used foul language. He had been on treatment for renal tubular acidosis (Fanconi syndrome) since 8 month of age. Conclusion: The possibility of OCRL should be considered in boys with cataracts and glumerolar disease. As the condition can be diagnosed in first months of life, early treatment can prevent patients from various complications. [ABSTRACT FROM AUTHOR]

An abstract of the article "Treatment with Miglustat in Patients Suffering from NPC" by Hedyeh Saneifard, is presented.

Objective: Studies have shown vitamin (Vit) D deficiency and bone disease in long-term use of antiepileptics, especially in young individuals. This study aimed to determine the relationship between antiepileptic drugs and the level of Vit D, calcium (Ca), and phosphorus (P) in children with epilepsy at the Shohada Hospital from 2016 to 2017., Materials & Methods: In this case-control study, 60 consecutive children with epilepsy at the Shohada Hospital from 2016 to 2017 under treatment with anticonvulsions for more than six months were enrolled as the case group. The level of Vit D, Ca, and P was determined in the case group and compared with 60 children without seizure as the control group., Results: The mean Ca and P were alike across the groups (P > 0.05). The mean Vit D3 level was 31.3 and 40 in the case and control groups, respectively, with significant difference (P=0.0001). The mean Ca and P were alike across the types of drug in the case group (P > 0.05); however, the mean Vit D3 level was lower in the case versus control group with significant difference (P=0.040)., Conclusion: Totally, according to the obtained results, it may be concluded that treatment with antiepileptic drugs, especially stimulant type, is related to the lower Vit D3 level, but not to the Ca and P levels., Competing Interests: The authors declare no conflict of interest.