Incidence of Neonatal Hyperphenylalaninemia in Fars Province,South Iran

Objective

Phenylalanine hydroxylase or its cofactor, tetrahydrobiopterin (BH₄), deficiency causes accumulation of phenylalanine in body fluids and central nervous system. Considering the fact that hyperphenylalaninemia is a preventable cause of mental retardation in infants, the objective of this study was to determine the incidence of congenital hyperphenylalaninemia in Fars province, south of Iran.

Methods

In a period of one year from November 2007 to November 2008 blood samples were withdrawn from all newborns born in Fars province for measurement of serum phenylalanine. The samples with a serum level of≥ 2 mg/dl were referred to pediatric endocrine clinic for confirmation and determination of the type of hyperphenylalaninemia by quantitive serum phenylalanine measurements by using High-Pressure liquid chromatography (HPLC) method.

Findings

Nine out of 76966 newborns had a serum phenylalanine level≥2mg/dl, of which 8 cases were confirmed by HPLC. The incidence of the disease was 1:10000. The incidence of mild hyperphenylalaninemia and phenylketonuria (PKU) among the patients was 62.5% and 37.5% respectively and the incidence of BH₄ deficiency was 1/76966.

Conclusion

These findings indicate a high incidence of hyperphenylalaninemia, in the newborns from Fars province. The high incidence makes a comprehensive screening program for management of the disease necessary.     

Evaluation of Congenital Hypothyroidism in Fars Province,Iran

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.     

Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran

Objective

Cystic fibrosis and its distribution vary widely in different countries and/or ethnic groups. Common cystic fibrosis transmembrane conductance regulator (CFTR) mutations were reported from Iran, but the northern population was not or underrepresented in those studies. The aim of this study was to determine the frequency of common CFTR mutations in children from northern Iran.

Methods

Thirty unrelated Iranian cystic fibrosis patients aged less than 11 years and living in Mazandaran province (in Iran) were screened for 5 common CFTR gene mutations. deltaF508, N1303K, G542X, R347H and W1282X using Reverse Dot Blot method.

Findings

Only one mutation, DeltaF508, was found in 7 patients accounting for 21.7% (13/60) of alleles.

Conclusion

These findings can be used for planning future screening and appropriate genetic counseling programs in Iranian CF families.     

New Trends in Weight-for-Height Charts of Shirazi School Children in Relation to the CDC Reference Data

Objective

The paper presents a new trend of weight-for-height index of 2397 school children (1268 boys and 1129 girls) aged 6.5-11.5 years by sex in a representative sample from primary schools of Shiraz (Southern Iran) at an interval of 15 years (1988–2003) and its relation to the Center for Disease Control and Prevention (CDC) data (2000).

Methods

The data relate to a multi-stage random sample of healthy school children in Shiraz, southern Iran, collected in 2002–2003 academic year. The mean±SD age of these children was 9.1±1.4 yaers. The weight and height were estimated as 28.2±6.9 kg and 131.3±9.6 cm, respectively. Cross-sectional weight-for-height curves were constructed for both sexes. Parametric Lambda-Median-Standard Deviation (LMS) method was applied to estimate weight-for-height centiles.

Findings

Weight-for-height centiles for boys and girls were nearly close to each other, except for the children of older age in which boys'' centiles lay below those of girls. Centiles of the present study lay above previous ones. In both sexes CDC weights were greater than those of Iranians for a given height. This discrepancy was more pronounced in extreme high centiles.

Conclusion

The necessity for updating local weight-for-height reference data for clinical work in Iran is emphasized. The positive trend in weight-for-height had been influenced by socio-economic development and improvement of health indicators in Iran during the post war reconstruction period.     

Prevalence of Asthma in Children of Chemical Warfare Victims

Objective

Exposure of DNA to sulfur mustard gas may increase the inheritance of asthma in chemical warfare victims'' (CWV) offspring. The objective of this study was to determine the prevalence of asthma in children of CWV and compare it to asthmatic children in the general population.

Methods

Four hundred and nine children from 130 CWV fathers and 440 children from 145 asthmatic parents from two cities in Iran participated in this study. The prevalence of asthma was determined by standard questionnaire released for epidemiological survey of asthma in children and compared between two groups.

Findings

The prevalence of asthma in the CWV group was 15%; this was not significantly different from the control group (12.5%). The children of the CWV group reported a significantly greater incidence of wheezing (1.2±3.1 attacks) per year, but the control group reported more severe attacks leading to speech difficulties (3%) and coughing (7%). Regression analysis showed that with increasing family size in the control group, the number of subjects suffering from asthmatic symptoms decreases significantly (r=0.86, P=0.001).

Conclusion

Chemical agents may increase the prevalence of asthma in the offspring of CWV.     

Frequency of Sensory Neural Hearing Loss in Major Beta-Thalassemias in Southern Iran

Objective

The thalassemias are among the most common genetic disorders worldwide, occurring more frequently in the Mediterranean region. The aim of this study was to determined frequency of sensory-neural hearing loss in major ß- thalassemias transfusion dependent patients in south of Iran.

Methods

A cross sectional study on 308 cases of major beta-thalassemia patients referring to Thalassemia Center of Shiraz University of Medical Sciences between 2006–2007 years. The diagnosis of ß- thalassemia major was based on clinical history, complete blood count and hemoglobine electrophoresis. Clinical data such as serum ferritin level, deferoxamine (DFO) dose, mean daily doses of DFO (mg/kg) and audiometric variables was recorded.

Findings

Out of 308 cases, 283 (96.5%) had normal hearing and 10 (3.5%) sensorineural hearing loss. There was no statically significant difference between two groups regarding mean age, weight, age at the first blood transfusion, age at the first DFO infusion.

Conclusion

We found the lowest incidence of sensorineural hearing loss in a large population of patients suffered from major thalassemia who received DFO. We show that DFO is not ototoxic at a low dose. When considering all related literature, as a whole there has been much critical misrepresentation about DFO ototoxicity.     

Familial History and Recurrence of Febrile Seizures; a Systematic Review and Meta-Analysis

Objective

Febrile seizure (FS) as the most common form of seizures in childhood, affects 2-5% of all children across the world. The present study reviews available reports on FS recurrence frequency and evaluates its associated risk factors in Iran.

Methods

We searched the Persian database such as: SID, MagIran, Medlip, Irandoc, Iranmedex as well as English databases PubMed, ISI, and Scopus. Random effects models were used to calculate 95% confidence intervals. Meta regression was introduced to explore the heterogeneity between studies.

Findings

The overall FS recurrence rate was 20.9% [95% confidence interval (CI): 12.3-29.5%]. The frequency of FS simple and complex types was 69.3% (95% CI: 59.5-79.0) and 25.3% (95% CI: 19.6-31.0), respectively. A positive familial history of 28.8% (95% CI: 19.3-38.4%) was observed for childhood FS including 36.2% (95% CI: 27.3-39.6%) for the simple and 29.4% (95% CI: 23.1-33.5%) for the complex type. The heterogeneity of recurrent FS was significantly affected by sample size (P=0.026).

Conclusion

Almost one-third of FS children had a positive familial history. The increased risk of recurrence in patients with symptomatic seizures needs to be fully considered by parents, physicians, nurses and health policy makers.     

Major Causes of Hospital Admission in Beta Thalassemia Major Patients in Southern Iran

Objective

Beta thalassemia major is a prevalent hereditary disease in Mediterranean region especially Iran. Early blood transfusion is necessary for most of the patients and frequent transfusion can cause various medical problems for the patients. The aim of this study was to find major causes of hospital admission in beta thalassemia major patients to reach the accurate preventive and therapeutic plans for these patients.

Methods

Four hundred twenty six patients were admitted to the Nemazee Hospital (the main University referral Hospital Center affiliated to Shiraz University of Medical Sciences in Fars Province, southern Iran) during 3 years period (January 2007 to January 2010). A questionnaire was filled containing age, gender, hemoglobin level, frequency of blood transfusions, deferoxamine injection, cause of hospital admission and hospital course.

Findings

The mean age of patients was 11.28 years. The mean serum ferritin level was 1820±749 µg/lit. Two hundred fifty five (59.75%) patients were male and 171 (40.25%) patients were female. The top five most prevalent causes of hospital admission were splenectomy (21.8%), infections (19.9%), congestive heart failure (19.0%), diabetes mellitus (13.4%), and Liver biopsy (11.5%). (P=0.0002)

Conclusion

Results of this study revealed that infections and complications due to iron overload are major causes of hospital admission in beta thalassemia major patients.     

Prevalence of Nocturnal Enuresis and Related Factors in Children Aged 5-13 in Istanbul

Objective

Enuresis is a health problem frequently encountered in childhood. This study was carried out in two socio-demographically different districts of the province of Istanbul, for the purpose of determining the relationship between the prevalence of primary nocturnal enuresis and certain demographic characteristics.

Methods

The study design is a cross-sectional carried out on 420 children (5 to 13 yr old) through random sampling. The research was conducted at two health centers in two different districts in the province of Istanbul. Data was collected with a questionnaire created by the researchers. Diagnosis of enuresis considered nocturnal voiding twice a week for at least three consecutive months.

Findings

Enuresis was a complaint expressed by 16.2% of the cases in the study group; 8.3% reported intermittent bedwetting. The data collected in the two districts pointed to a significant difference in terms of the frequency of enuresis in favor of the district where socio-demographic features were inferior (P<0.005). When family histories were explored in cases of children with enuresis, it was found that the mothers of 76.2% had the problem of enuresis while 14.9% had enuretic fathers. Thus statistically, the presence of enuresis in the family history was seen to have had a markedly significant impact on the occurrence of enuresis in the child (P<0.001).

Conclusion

It was concluded that familial predisposition to the condition constituted a more significant risk factor for enuresis compared to socio-demographic or economic characteristics.     

Evaluation of Diagnostic Value of Procalcitonin as a Marker of Neonatal Bacterial Infections

Objective

This study tried to assess sensitivity, specificity, positive and negative predictive value of procalcitonin for diagnosis of neonatal bacterial infections.

Methods

This prospective cross sectional study was carried out during an 18-month period in NICU and neonatal wards of Besat Hospital in Hamedan province, Iran. 39 symptomatic infants with clinical and laboratory findings in favor of bacterial infection with a positive blood, CSF, and/or supra pubic urine culture entered the study; 32 newborns without any bacterial infection served as control group. Quantitative procalcitonin level ≥0.5 ng/ml was accepted as pathological. Finally sensitivity, specificity, positive (PPV) and negative predictive value (NPV) were calculated for procalcitonin test.

Findings

20 blood cultures, 17 urine cultures and 8 CSF cultures were positive. Sensitivity, specificity, PPV and NPV for procalcitonin test was 76.9%, 100%, 100% and 78% respectively. Diagnostic value of procalcitonin test in accordance with blood culture for mentioned items was 85%, 100%, 100% and 91.4% respectively. Its diagnostic value according to urine culture was: sensitivity 70.6%, specificity 100%, PPV 100% and NPV 86.4%, and according to CSF culture was: sensitivity 75%, specificity 100%, PPV 100% and NPV 94.1% respectively.

Conclusion

The results show that the procalcitonin test has high sensitivity, specificity, PPV and NPV for diagnosis of neonatal infections.     

Childhood cancer incidence in India betweem 2012 and 2014: Report of a population-based cancer registry

Objectives

To provide an overview of childhood cancer incidence in India between 2012-2014.

Methods

Secondary data analysis on age-adjusted rates of cancer incidence for children (0-14 years) were collected from the report of the National Cancer Registry Programme in the year 2016.

Results

Age-adjusted rates of childhood cancer incidence ranged from 18.5 per million in the state of Nagaland to 235.3 per million in Delhi for boys. The rates were 11.4 per million in East Khasi Hill district and 152.3 per million in Delhi for girls. Leukemia was the most predominant cancer for both boys and girls. Lymphoma was the second most common cancer in boys, and brain tumors in girls.

Conclusion

Childhood cancer incidence is increasing in India compared to population-based cancer registry survey of 2009-2011. Cancers are mostly affecting 0-4 years age group, and there is a rising trend of Non-Hodgkin’s lymphoma.

     

Pubertal Characteristics in Girls of Qazvin Province,Iran

Objective

Puberty is a critical time between childhood and adulthood. Many studies have reported that the mean age of breast development is decreasing. The aim of this study was to provide updated data on the pubertal development of girls and to evaluate precocious puberty in our population.

Methods

This cross sectional study was conducted in 6 to 16 year old school girls during 2009-2010 in Qazvin. 2240 healthy girls from all geographical regions with every socioeconomic status were selected by a stratified multistage cluster design to obtain representative sample of population. A questionnaire including demographic data, anthropometric measurements, secondary sexual characteristics, menarche status and its onset was filled out for every participant. Secondary sexual characteristics including breast development (B_1–5) and pubic hair (PH_1–5) were evaluated according to Marshal and Tanner recommendation.

Findings

The mean±SD of height, weight, and BMI of participants was 139.7±14.5, 36.1±12.9 and 17.9±3.7 respectively. The mean age (10th – 90th percentile) of B₂ and PH₂ were 9.71(7.67–11.4) and 9.82 years (7.84–11.42) respectively. Mean age of menstruation was 12.52 years. The mean BMI was significantly higher in pubertal females comparing to prepubertal girls (P<0.001). Average duration of puberty (the time from initiation of puberty to menarche) was 2.81 years.

Conclusion

The mean age of pubertal onset in girls living in Qazvin is 9.71 years. Menarche occurs at mean age of 12.52 and onset of puberty earlier than 6.24 years will be precocious. We found that girls in Qazvin had a slightly earlier age of initiation of puberty and of menarche in comparison with other studies in Iran.     

Neonatal Marfan Syndrome: Report of Two Cases

Background

Neonatal Marfan syndrome is a rare and severe phenotype of this disease. A poor prognosis is anticipated due to the high probability of congestive heart failure, and mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management at an early age.

Case Presentation

We present two consecutive patients with this disease who are the first reported cases from Iran to the best of our knowledge. Unfortunately both of them died shortly after diagnosis.

Conclusion

Neonatal Marfan syndrome is reported from Iran and has a poor prognosis like the patients reported from elsewhere.     

New Single Nucleotide Deletion In the SMPD1 Gene Causes Niemann Pick Disease Type A in a Child from Southwest Iran: A Case Report

Objective

Niemann Pick disease (NPD) type A (NPA: MIM #257200) is a lipid storage disorder with an autosomal recessive inheritance and occurrs by defect of the SMPD1 gene encoding sphingomyelinase. Disruption of this enzyme leads to the accumulation of sphingomyelin in brain and liver, which in turn causes dysfunction or damage of tissue.

Methods

We report firstly a 2.5 year old boy with NPA in southwest Iran. Initially, the diagnosis was resulted on the basis of clinical symptoms. The genomic DNA of the suspected individual was subjected to exon sequencing of the SMPD1 gene. According to the human reference sequence {"type":"entrez-nucleotide","attrs":{"text":"NM_000543.4","term_id":"300795568","term_text":"NM_000543.4"}}NM_000543.4, a novel single guanine deletion resulting in a frameshift mutation (p.Gly247Alafs*9) was observed in the SMPD1 gene that might be causative for the outcome of the disease.

Findings

The present report is the first molecular genetics diagnosis of the NPA in southwest Iran. The detected deletion in the SMPD1 gene is remarkable because of its novelty.

Conclusion

Despite similar morbidity SGA infants exhibited higher lethal complication rates following delayed meconium passage compared to AGA infants.     

Maternal Folate and Vitamin B12 Status and Neural Tube Defects in Northern Iran: A Case Control Study

Objective

This study was conducted to determine the serum level of folic acid and vitamin B12 in neural tube defects pregnancies (NTD) and healthy controls in Northern Iran.

Methods

This case-control study was performed on women with neural tube defects pregnancies and controls with unaffected pregnancies in Northern Iran during 2006. Twenty three pregnant women whose pregnancies were diagnosed as NTD by a second-trimester ultrasonographic examination were recruited as cases. The control group (n=23) consisted of women who were selected among socio-economic status (SES) matched women who had a normal targeted ultrasound during the second trimester with documented normal fet al outcome. Fetal NTD was suspected with targeted second-trimester ultrasound during the 16^th week of gestation and confirmed with high maternal serum α-fetoprotein levels. Folate, vitamin B₁₂, homocysteine and alpha fetoprotein were evaluated after target ultrasonography.

Findings

Serum alpha fetoprotein level (mean±SD) in cases and controls was 120.2±64.1 and 50±33.5 iu/ml, respectively (P<0.05). The mean±SD folate in cases and controls was 8.4±4.2 versus 9.3±4.2 ng/ml, respectively. This difference was not significant. Folate deficiency was found in 30.4% of the cases and 13% of the controls (OR=2.9, 95%: 0.54–19.8). Vitamin B12 deficiency was found in 13% of cases and 17.7% of the controls (OR=0.7, 95%: 0.1-4.9).

Conclusion

This study showed that the probability of having a newborn with NTDs in maternal folate deficiency is three times higher than with normal folate in Northern Iran.     

How Do Parents Think about the Effect of Food and Alternative Medicine on their Epileptic Children?

Objective

Parents of epileptic children are willing to know if specific foods precipitate or aggravate their kids'' seizures. Nonetheless conclusive data are limited. Alternative medicine has become a popular approach to many diseases in the world and there are limited data about this approach to epilepsy in Iran. We tried to evaluate attitude of parents of epileptic children to food-epilepsy relationship and alternative therapeutic approach to epilepsy.

Methods

We carried out a cross-sectional study with analytic aspect at Children''s Medical Center, Tehran, Iran in 2008, by asking the parents of epileptic children to fill out a valid and excellently reliable questionnaire. We collected parents‘ attitude and analyzed it using SPSS software.

Findings

One-hundred and fifty one families participated in the study. Fifty-nine of participants (39.1%) believed that foods had no effect on epilepsy. Fifty one cases (33.8%) said that foods might have negative or positive effect on epilepsy and 27.1% (41 cases) had no idea. Higher percent of parents believed in food-epilepsy relation in cases that fathers had educational levels above high school graduation. Sixteen cases (10.6%) said that alternative medicine might improve epilepsy and 55% had no idea about efficacy of this approach to epilepsy.

Conclusion

Compared with previous published study from Iran, parents of epileptic children believed less in food-epilepsy relation. Majority of parents either believed that foods had no effect on epilepsy or had no idea. More than half of parents had no idea about efficacy of alternative medicine to epilepsy. Only a few of them believed in ameliorating effects of alternative medicine on epilepsy.     

A cross-Canada survey of clinical programs for the care of survivors of cancer in childhood and adolescence

BACKGROUND

More than 80% of children who have been recently diagnosed with cancer will survive for five years or more. A majority of these survivors are at risk for developing one or more long-term sequelae of their therapy. Thus, they all require specialized medical care that is focused on their specific risks.

METHODS

A survey of informants from all 17 paediatric cancer programs in Canada was conducted to determine the care offered to survivors of childhood cancer, both during their paediatric and adolescent years, as well as after they transition to adulthood.

RESULTS

Sixteen informants representing all 17 centres responded to the survey by telephone or e-mail. Twelve of the 17 centres (71%) had a formal program or clinic dedicated to the care of survivors during their paediatric and adolescent years, while the remaining centres cared for survivors in their acute care oncology clinics. However, only six of 17 centres (35%) had access to a formal program for survivors once they reach adulthood. Fifteen of the 17 centres (88%) adhered to published long-term follow-up guidelines, and 13 of 17 centres (76%) provided a treatment summary and/or a survivorship care plan to each survivor before their transfer out of paediatric care.

CONCLUSION

Despite the centralization of paediatric oncology care within 17 specialist centres and the availability of universal health care, many Canadian survivors of childhood cancer do not have access to clinics specializing in long-term risk-based survivor care, and this access further decreases once they reach adulthood.     

Zinc and Copper Status in Children with Beta-Thalassemia Major

Objective

There are some reports in which a condition of zinc deficiency and its associated outcomes with a change in concentration of serum copper among the thalassemic patients has been highlighted. The aim of this prospective study was to determine the serum zinc and copper levels in children with beta-thalassemia major.

Methods

In this cross sectional study all children under 12 years affected by beta thalassemia major (40 patients) were evaluated for serum zinc and copper levels in Qazvin thalassemia center (Qazvin, Iran) in 2007. Serum measurements for zinc and copper were performed by atomic absorption spectrophotometer.

Findings

The mean concentrations of serum zinc and copper levels were 67.35±20.38 and 152.42±24.17 µg/dl respectively. Twenty-six (65%) of thalassemic patients had zinc concentration under 70 µg/dl (hypozincemia). None of the thalassemic children had copper deficiency. No significant correlation between serum zinc level with age, weight, height, body mass index, duration of blood transfusion, desferrioxamine dose and ferritin level was observed in thalassemic patients (P=0.3).

Conclusion

This study revealed that hypozincemia is common in thalassemic patients, but in contrast, there is no copper deficiency. Further evaluation in this regard is recommended.