Journal of Comprehensive Pediatrics
Volume:2 Issue: 1, Jun 2010

Beta-thalassemia (β-thalassemia) is characterized by the reduced synthesis of the hemoglobin beta chain. Nowadays, more than 200 disease-causing mutations in beta-globin (β-globin) gene have been identified. Betathalassemia is the most common monogenic disease worldwide and one of the widespread hereditary disorders in Iran. Considering the vast spectrum of beta-thalassemia mutations, it has multi-ethnic population. The gene frequency of betathalassemia is high and varies considerably in each region. Therefore, it is necessary to determine the frequency and distribution of beta-thalassemia mutations in different regions. In the present study, two hundred and two beta-thalassemia major patients were subjected for genomic DNA extraction from whole blood. Amplification and subsequent sequencing of the beta-globin gene has been made by specific primers. Thirty mutations were found in 404 studied alleles. Our results show that IVSII-1(G>A) with 21.3% (86/404 alleles) represents the most common mutation, followed by the four mutations namely CD36/37 (-T) (16%), IVSI-110(G>A) (17.8%), IVSI-5(G>C) (6.9 %) and CD5 (-CT) (5.2%), respectively. Our findings indicate that the Khuzestan population possesses a wide variety of thalassemia allelic distribution. These results can be used as basis for prenatal diagnosis of beta-thalassemia, especially in the south west of Iran.

Urinary tract infection (UTI) causes significant illness in children. The diagnosis in most developing countries is often overlooked due to difficulties in obtaining urine from children especially those who would not void voluntarily. Misdiagnosis often leads to renal damage and hypertension, which could be avoidable with early diagnosis and proper management. Empirical antibiotic treatment in UTI, especially if based on the epidemiology and resistance patterns of common uropathogens, plays an important role in prevention of renal damage. The aim of this study was to evaluate the prevalence of clinical symptoms, laboratory findings, renal ultrasonography, Dimercaptosuccinic acid (DMSA) renal scanning and antimicrobial sensitivity of uropathogens. This retrospective study was conducted on 136 patients hospitalized in Qods hospital of Qazvin with positive urine culture during 2006 (from March through October). One hundred and thirty five children were included in the study. Of the total, 108 (80%) were females and 27 (20%) were males with a female to male ratio of 5.4:1. The median age of the patients was 24.4 months. Ninety eight (72.6%) patients were from cities and 37 (27.4%) were from rural areas. Of 135 patients, 17 (11.1%) had past history of hospitalization with UTI. Fever was the most common clinical presentation (68.1%) followed by dysuria (37%) and vomiting (29.6%). Normal white blood cell count was found in 113 cases (83.7%) and 22 patients (16.3%) had leukocytosis. Increase erythrocyte sedimentation rate (ESR) was found in 64 cases (55.6%) and positive C-reactive protein (CRP) in 54.8% of patients. Escherichia coli (E.coli) caused 67.4% of the infections followed by Klebsiella species (14.1%). The majority of the E.coli isolates (90.1%) were from females, while the remaining were from males. Among the gram negative enteric bacilli high prevalence of resistance was observed against ampicillin (86.9%) and co-trimoxazole (78.3%). E.coli isolates had the most sensitivity to amikacin (90.1%), ciprofloxacin (83%), nitrofurantoin (81.2%), ceftriaxon (78.5%), gentamycin (77.8%) and ceftizoxime (74%). Sonography of the kidney and bladder showed abnormality in 15.3% of patients, while the DMSA renal scan was abnormal in 46.5%. UTI is one of the most common infections diagnosed in hospitalized children, particularly in females. Since in the young children specific clinical signs and symptoms of UTI are uncommon, the presence of other potential signs and symptoms are not reliable in excluding UTI. This study revealed that enterobacteriaceae were the predominant bacterial pathogen of hospitalized children with UTI. It also represents high level resistant of E.coli isolates to ampicillin and cotrimoxazole. Thus, continued local surveillance studies are urged to monitor emerging antimicrobial resistance and to guide interventions to minimize its occurrence. This study is useful to improve the empiric treatment..

Pleural effusion is the second most common type of extra pulmonary tuberculosis with an incidence of 4.9%. This study aims to describe the age distribution, main clinical, laboratory and radiographic findings and outcome of patients with Tuberculous Pleural Effusion (TPE). This is a retrospective study of TPE patients admitted in pediatric ward of Masih Daneshvari Hospital from 2002 to 2008. Eighteen patients under 18 years of age were included in our study. The patients in our study were 12 boys (66.7%) and 6 girls (33.3%) who were all in the 10-18 age bracket. The most common presenting symptoms and signs were cough (17 patients, 94.4), anorexia (14 patients, 77.8%), fever (13 patients, 72.2%), chest pain (10patients, 55.6%), tachypnea and respiratory distress (2 patients, 11%), cyanosis (1 patient, 5.5%). All subjects showed exudative pleural fluid with lymphocytosis >50%. Acid fast bacilli (AFB) were not detected in the sputum, gastric and/or pleural fluid of any of the patients. Sputum culture was positive in 4(23.5%). Positive pleural culture was not seen in any of the patients. Pleural biopsies were available in 88% of which showed necrotizing granulomatous inflammation. The most common radiographic findings were unilateral PE (100%), mediastinal lymphadenopathy (22%) and consolidation (11.1%). Eighteen patients received medical treatment. The clinical manifestation of childhood TPE is not specific and especially in countries with high prevalence of TB it should always be considered in the differential diagnosis for older children suffering from parapneumonic effusion.

Integrated Management of Childhood Illness (IMCI) is a very simple tool based on evidence. It not only simplifies the approach to managing the child, but also considering him as whole at the same time. The aim of this study was to evaluate the utility of the WHO/UNICEF algorithm for IMCI between the ages of 1 week to 14 years. In this prospective observation, 66 children presenting to the Outpatient department of Taleghani Medical center were assessed and classified as per IMCI algorithm, the final diagnoses made and treatment instituted on this basis. The study was carried out in August 2006. The study group consisted of 39(59%) girls and 27(41%) boys. Seventeen (25.8%) cases were less than 2 months and about two-third (44; 66.7%) were less than 5 years old. Only 5 patients (7.5%) showed evidence of malnutrition. Diarrhea was the most frequent (25.8%) complaint. Forty-three patients presented with other illnesses not included in IMCI classification. Majority of the mothers (90%) had not received advice on how to care their sick children at home. Data suggests the need for a complementary introduction of community-based IMCI programs with a wider range of disease classification. Improving the communication with the mothers on the care required at home is also recommended.

Liver Transplantation (LT) is a procedure that can save and prolong the life of children with end stage liver disease. These patients need prolong follow up, may develop complications and thus need recurrent hospital admissions. These can affect their psychosocial functioning. The aim of this study is to evaluate the life satisfaction and school performance of children who underwent LT. We prospectively assessed the life satisfaction and school performance in 48 pediatric patients who underwent LT between 2004 and 2008 at Organ Transplantation Center affiliated to Shiraz University of Medical Sciences. The data was collected using a standard questionnaire filled by the patients or their parents. In this study we evaluated 48 children that consisted of 30 boys (62.5%) and 18 girls (37.5%) with a mean age of 9.3 years (range: 1-18 years old) and a mean duration of follow up of 11.8 months (range: 12-48 months). Out of 25 children who were at school age, 85% went to the school and had good school performance; 64.6% of the patients believed that they will have a normal life in future and can get married. Also 68.7% of the cases had normal playing activity with their peers in the same age group. The goal of LT is not only to ensure survival, but also offer patients the sort of healthy life they enjoyed before the disease, achieving a good balance between the functional efficacy of the graft and the patient's psychological and physical integrity.

Congenital cytomegalovirus (CMV) infection affects~1% of live births in the United States. Ten percent of these infants have symptoms at birth and another 10 to 15% develop hearing loss or developmental problems.The aim of this study was to compare CMV infection (IgM and IgG) in infants suspected for intrauterine infection with the controls. A case control study was performed in the Pediatrics department of Hazrat Rasool Akram Hospital in Tehran (2002-2003). We compared the serum CMV antibodies (IgM &IgG-ELISA) of 74 cases suspected of intrauterine infection (mean age =4.7r3.7 months) with that of 65 controls (mean age=5.3r3.1 months). Acute and previous immunity to CMV (IgM and IgG) was found in 41.9% (31/74) and 74% (54/74) of the cases, respectively. Meanwhile acute infection (IgM) was observed in 6.2% (4/65) and previous immunity (IgG) in 95.4% (62/65) of the controls. Acute infection (CMV-IgM) was higher in cases (p-value=0.000), but previous immunity (CMV-IgG) was higher in the controls (p value=0.001). We conclude that like other countries, CMV is the most common cause of intrauterine infection in infants aged less than 6 months as compared to the healthy ones.We prefer, at least in our country, to consider seropositive (CMV-IgM) infants suspected of intrauterine infection (less than 6 months) as congenital form.To arrest the natural progression of congenital CMV, we recommend prolonged course of oral analogues of ganciclovir for children with symptomatic congenital CMV.

Malnutrition and growth impairment are among the most common problems in children of developing countries. The aim of present study was to determine underweight, stunting, and wasting status in children less than 2 years in Qazvin (Iran) in 2007. In this study, 804 children aged between 0-24 months were evaluated. Data were collected through both family and child's health records. According to World Health Organization (WHO) standard underweight, stunting, and wasting were observed in 11.7%, 11.5%, and 0.7% of the children, respectively. There was a significant correlation between underweight and the family size and birth order and also between stunting and family size, birth order, and parent education (p<0.05). This study revealed that the most common types of growth impairment in children under two years of age are underweight and stunting. Interventional measures are recommended.

Acute hepatitis as a sole manifestation of leukemia is rare in pediatric age group. We present an Acute Lymphoblastic Leukemia (ALL) patient that referred with clinical and biochemical features of acute hepatitis. ALL can be a remote cause of acute hepatitis and physicians can consider it as an etiology of acute hepatitis.