فهرست مطالب
Iranian Journal of Pediatrics
Volume:23 Issue: 2, Apr 2013
- تاریخ انتشار: 1391/12/12
- تعداد عناوین: 27
-
-
Page 125ObjectiveMetals such as copper (Cu), zinc (Zn), iron (Fe) are essential for human beings. Chronic metabolic disturbances may result from an excess or deficiency of these metals. Ca and Mg are also nutrient elements and play an important role in biological systems. Thus, it is very important to check regularly trace elements concentration in the body. The purpose of this study was to measure the content of Fe, Cu, Zn, Ca and Mg in whole blood and hair of children with growth retardation compared to that of controls.MethodsA quantitative elemental analysis of whole blood and scalp hair of children with constitutional growth retardation (n=27) and matched controls (n=21) was used to find out correlation and possible changes, between growth retardation and healthy controls. Atomic absorption spectrophotometric (AAS) analysis of quantitative method was used to determine iron, zinc, copper, calcium and magnesium levels of whole blood and scalp hair.FindingsThe whole blood levels of Fe and Zn were significantly lower in children with growth retardation (P<0.05), but there were no differences in Cu, Ca and Mg concentrations in whole blood between children with growth retardation and healthy controls. The hair levels of Fe, Zn, Ca and Mg were significantly lower in children with growth retardation when compared to that of controls (P<0.05). The Cu concentrations in the hair of children with growth retardation and healthy controls showed no significant differences (P>0.05).ConclusionThe usefulness and significance of these elements in growth retardation should be discussed more detailed in the light of the most recent data.Keywords: Whole Blood, Hair, Trace Elements, Growth Retardation, Children
-
Page 131ObjectivePeritoneal dialysis remains the only available option for patients which need immediate dialysis and it could be a bridge between end-stage renal failure (ESRD) and transplantation. There is a paucity of published experience of children with immediate use of permanent Tenckhoff Catheter for peritoneal dialysis from developing countries. In this study we report our experience on immediate use of permanent peritoneal access and continued peritoneal dialysis for a prolonged time.MethodsFifty six patients were studied including 30 males and 26 females within the age range of 1 month to 14 years with mean age of 6.5 years in Urmia, Northwest Iran.FindingsNo operative morbidity was seen. During a total of 499.5 continuous ambulatory peritoneal dialysis months, 16 patients had 28 episodes of peritonitis, which means a overall result of one episode per 17.8 months. There were 3 patients (5.35%) with catheter site leakage, 12 (21.4%) catheter obstructions (which led to omentectomy), 4 (7.2%) exit site infections (2 patients in the early postoperative period and 2 patients in during follow up). Death due to catheter related complications occurred in 1 per 56 patients and due to non-catheter related causes in 10 per 56 patients.ConclusionPresent results indicate that catheter-related complications were not higher than those previously reported and peritoneal dialysis could be initiated immediately after catheter implantation and could be a safe bridge between end-stage renal failure (ESRD) and transplantation.Keywords: Peritoneal Dialysis, End, Stage Renal Failure, Complications, Peritonitis
-
Page 138ObjectiveReliable non-invasive methods for detection of Helicobacter pylori (H. pylori) infection are required to investigate the incidence, transmission, and clearance of infection in childhood. Detecting bacterial antigens in stool offer an alternative noninvasive diagnostic test. However its accuracy in developing countries is not well established. The aim of this study was to evaluate the performance of stool antigen test for H pylori in Iranian children with recurrent abdominal pain necessitating endoscopy.MethodsOne hundred three children enrolled in this study. Endoscopy and biopsy was done on all patients providing a criterion standard for validation of the H. pylori stool antigen (HpSA) tests. The presence of H. pylori organisms in stool was determined by an enzyme-linked immunosorbent assay using a commercially available polyclonal antibody. HpSA sensitivity, specificity, and positive and negative likelihood ratios were determined with reference to the results of cultures of gastric biopsy.FindingsOf the 103 children tested 41 (39.8%) and 39 (37.8%) were positive for H. pylori according to the results of cultures of gastric biopsy and HpSA, respectively. The sensitivity, specificity, and positive and negative likelihood ratios of HpSA were found to be 85%, 93%, 89.7%, and 90%, respectively.ConclusionIn this pilot study, a low-cost and rapid diagnostic technique, stool antigen test proved to be highly sensitive and specific for detecting H pylori infection in children with recurrent abdominal pain. Our results are comparable to those reported elsewhere in children and demonstrate that the HpSA test can replace endoscopy and biopsy for detecting H. pylori infection.Keywords: Helicobacter Pylori, Stool Antigen Tests, Children
-
Page 143ObjectiveJaundice is a common problem in neonatal period. Phototherapy is the most common treatment for neonatal jaundice. The purpose of this study was to determine the effect of adding white plastic cover around the phototherapy unit on hyperbilirubinemia in full term neonates with jaundice.MethodsIn this randomized controlled trial, over 12 months (October 2009 – September 2010), 182 term neonates with uncomplicated jaundice, admitted to neonatal unit of Imam Reza Hospital (AS) in Kermanshah province of Iran, were selected. They were randomized in two groups. Control group received conventional phototherapy without cover around the apparatus and covered group received conventional phototherapy with plastic cover around the unit. After enrolment, total serum bilirubin was measured every 12 hours. Phototherapy was continued until the total serum bilirubin decreased to or less than 12.5 mg/dl.FindingsThere were no significant differences between the two groups for gestational age, birth weight, postnatal age, weight (at admission), serum level of hemoglobin, hematocrit and reticulocyte count. Total serum bilirubin in covered group, during the first 48 hours of treatment, declined significantly than in control group (P. value=0.003). The cover around the phototherapy unit not only did not increase the side effects of phototherapy, but also had a positive impact in reducing duration of jaundice (P. value <0.0001) and duration of hospitalization (P. value <0.0001).ConclusionThe study results showed that using white plastic cover around the phototherapy unit can increase the therapeutic effect of phototherapy.Keywords: Phototherapy, Jaundice, Neonate, Hyperbilirubinemia
-
Page 149ObjectiveCystic fibrosis (CF) is a chronic, multisystem genetic disease with a wide variability in clinical severity. The measurement of quality of life in CF provides additional information about the impact of this disease. This article tries to assess quality of life (QoL) in children and adolescents with CF and to compare it with control group.MethodsPatients 2-18 years old with admission diagnosis of cystic fibrosis entered the study. QoL was observed in CF patients and compared with control group.FindingsBased on children's reports, significant differences between the CF patients and control group were noted for emotional, physical, social, school performance, and total scores (P<0.05). Based on parents’ reports, quality of life score in CF patients from the physical point of view as well as social and total scores were decreased (P<0.05).ConclusionQoL in CF patients seems to be low, and therapy programs should take into account the suggestive perceived quality of life.Keywords: Cystic fibrosis, Quality of life, Child, Adolescence
-
Page 154BackgroundThere is still controversy about the method and the age of toilet training and they are varied in different cultures. The aim of study is to determine the beliefs of Iranian parents about the appropriate age, the true age, the methods used for toilet training, and the association with voiding problems.Methods349 questionnaires contained items about demographic data, the belief of parents, the method applied, and the true age of accomplish toilet training were filled-out for children aged 2 month-5 year. In addition, pediatric lower urinary tract scoring system questionnaire were distributed among 217 children with lower urinary tract symptoms aged 5-15 years between 2008 and 2010 in outpatient clinics. P < 0.05 was considered significant.ResultsFrom 566 (335 girls and 231 boys) children assigned to the study. In asymptomatic group, the majority of parents believed that the appropriate age of starting toilet training was 1-2 years. The method used by the parents was intensive in 52% and child-oriented in 44%.There was strong reverse correlation between the level of education of father with applying punishment for training,, direct correlation between toilet refusal and the later age of completing toilet training (LR:6.3,P<0.05). The mean age of completing toilet training was about 23 month in asymptomatic and 23.7 month in symptomatic children(P>0.05).There was no correlation between wetting episodes at day or night and the age of toilet training.ConclusionIntensive approach was more popular and the age of toilet training had no influence on the lower urinary tract symptoms.
-
Page 159ObjectiveThis study was carried out to detect the prevalence of child abuse in three domains of physical, psychological and neglect among elementary school aged children of Qazvin Province, Iran.MethodsIn this descriptive-analytic and cross-sectional study, 1028 elementary school aged children of Qazvin Province selected through multistage cluster sampling were assessed for child abuse in all domains, except for sexual abuse through a researcher-made questionnaire. The questionnaire was standardized for validity and reliability. Gathered data was statistically analyzed and P-value less than 0.05 was considered significant.FindingsOut of 1028 studied children, including 540 (52.5%) boys and 488 (47.5%) girls 679 (66.05%) cases declared at least one type of child abuse. The number of positive cases for each domain of emotional, physical and neglect was 618 (60.1%), 360 (35%) and 394 (38.3%) respectively. No significance was seen regarding the gender and/or regions of living in any of the domains and total prevalence.ConclusionRegarding the results of this study which showed a prevalence rate of 66% for child abuse; and since there are strong association between child maltreatment and its impacts in juvenile and adulthood periods in the forms of offending, mental health concerns such as suicide and homicide, substance abuse, school failure, employment difficulties, teenage pregnancy, adult attachment difficulties, family violence, intergenerational violence and so on, appropriate education to the parents, and the punishment laws for child abuse is recommended.Keywords: Child Abuse, Child Maltreatment, Emotional Disturbances, Child Neglect, Violence, Iran
-
Page 165ObjectiveR-Baux score has obtained an acceptable validity and accuracy in predicting burn-related mortality. However, its usage and efficacy among pediatric burn patients has not been well documented. The aim of this study was to employ Pediatrics-Baux (P-Buax) score as modified version of R-Baux score in these patients to determine how it could be applicable in this population.MethodsThrough a prospective study, 870 pediatric burn patients were enrolled. P-Baux and R-Baux scores were calculated for each patient and they were categorized to different groups according to these scores. Mortality and further death probability were measured for each subject and then analyzed by logistic regression model to reveal how they change in relation with age in pediatric burn patients.FindingsR-Baux score for 95% probability of death revealed a mean of 73 among patients of this study. Also P-Baux score was measured in these patients with inhalation injury which showed to be 55 for 95% probability of death. Results showed that age had a positive prognostic value in contrast to the negative prognostic value of Total Body Surface Area (TBSA) and inhalation injury.ConclusionOur analysis showed that in children under the age of 15 years, age has a positive prognostic value while TBSA and inhalation injuries had negative prognostic values in relation to mortality. Hence, in contrast to the adult population, burn injury related mortality may be predicted by modified R-Baux score as (TBSA - age + [18×R]) which could be named as P-Baux score.Keywords: Burns, Thermal Injury, Inhalation Burns, Children, Baux Score
-
Page 171BackgroundThe evidence for the effects of blood exchange transfusion on Se in newborn infants is unknown. This study was conducted to determine the possible effects of blood exchange transfusion on Selenium by comparing the blood concentrations before and after exchange transfusion of jaundiced neonates.MethodA total of 30 jaundiced, term neonates who underwent for first time, blood exchange transfusion (EXT) because of idiopathic unconjugated hyperbilirubinemia, were recruited. The Se levels of 30 blood bank donors’ samples which used for EXT were measured and 30 pairs of uncontaminated umbilical cord blood samples were investigated for Se before and after exchange transfusion. The samples were analyzed by instrumental neutron activation analysis method. Serum bilirubin concentrations were measured by venous blood samples before EXT.FindingThe average of Se concentration before EXT was higher than that after EXT (629.78±283.82 SD ppb versus 454.83±213.75 SD ppb) (P <0.05). There were significant correlations between the blood concentrations of Se before and after EXT and also between the blood levels of Se before EXT and total serum bilirubin levels (P<0.05). There was no significant correlation between the blood concentrations of Se before EXT and babies’ gender and weight (p>0.05). The samples were obtained from transfused blood products showed average of Se levels of 507.90±223.56 SD ppb.ConclusionThe blood exchange transfusion caused a 28% decrease of the blood Se levels because the blood bank donors had lower blood Se levels than the newborns. Furthermore, there was a significant correlation between the blood levels of selenium before EXT and the total serum bilirubin levels.Keywords: Trace Elements, Exchange Transfusion, Newborn, Neutron Aactivation Analysis, Selenium
-
Page 177ObjectiveMost pediatric emergency department (ED) visits are due to acute abdominal pain. Sonography is a reliable technique for differential diagnosis. The objective of this study was to re-appraise the role of sonography in evaluating acute abdominal pain in children.MethodsRetrospective chart review of children aged <18 years with acute abdominal pain who visited the emergency department and underwent sonography between December 2004 and June 2006 was conducted. Patients with trauma were excluded.Findings775 patients (478 males and 297 females, age 1-17 years; mean age 6±5.8 years) enrolled the study. Among 284 children with suspected appendicitis, 118 were diagnosed with appendicitis using sonography. Of 663 children without appendicitis, majority had gastrointestinal tract infection or non-specific abdominal pain. Other specific diagnoses were established by clinical, laboratory, and radiologic finings in 51 patients (including renal diseases in 20, intussusceptions in 15, gynecologic diseases in six, extra-abdominal disease in 4, and gastrointestinal tract abnormalities in 2). The sensitivity and specificity of sonography was 96.4% and 76.7%, respectively, for diagnosing appendicitis and 100% and 100%, respectively, for intussusception.ConclusionSonography remains a very effective, complementary, non-invasive method for evaluating children with acute abdominal pain, especially those with suspected appendicitis or intussusception.Keywords: Ultrasound, Abdominal Pain, Emergency, Children
-
Page 183ObjectiveThe aim of this study was to compare the Persian version of the wechsler intelligence scale for children - fourth edition (WISC-IV) and cognitive assessment system (CAS) tests, to determine the correlation between their scales and to evaluate the probable concurrent validity of these tests in patients with learning disorders.MethodsOne-hundered-sixty-two children with learning disorder who were presented at Atieh Comprehensive Psychiatry Center were selected in a consecutive non-randomized order. All of the patients were assessed based on WISC-IV and CAS scores questionnaires. Pearson correlation coefficient was used to analyze the correlation between the data and to assess the concurrent validity of the two tests. Linear regression was used for statistical modeling. The type one error was considered 5% in maximum.FindingsThere was a strong correlation between total score of WISC-IV test and total score of CAS test in the patients (r=0.75, P<0.001). The correlations among the other scales were mostly high and all of them were statistically significant (P<0.001). A linear regression model was obtained (α=0.51, β=0.81 and P<0.001).ConclusionThere is an acceptable correlation between the WISC-IV scales and CAS test in children with learning disorders. A concurrent validity is established between the two tests and their scales.Keywords: Correlation of Data, Learning Disorders, Wechsler Scales, Intelligence Test, Cognitive Assessment
-
Page 189ObjectiveAcute accidental poisoning in children is still an important public health problem. The epidemiological investigation specific for each country is necessary to determine the extent and characteristics of the problem. The aim of our study was to elucidate the current pattern of acute poisoning among children.MethodsThe present retrospective study describes the epidemiology of acute accidental poisoning in children (less than 10 years old) admitted to the Emergency Department of two teaching hospitals during a period of two years.FindingsThree hundred and forty four children under 10 years old were admitted to emergency department of two teaching hospitals due to acute accidental poisoning. Drugs were the most common agents causing the poisoning (58.1%), followed by Hydrocarbons (13.1%), and opioids (9.3%). Common signs were neurological (42.6%) with lethargy being the most common (39.1%). 50.6% of cases were discharged from hospital within 6-12 hours, 91.6% of them without any complication.ConclusionAccidental poisonings are still a significant cause of morbidity among children in developing countries. Regarding the high prevalence of pharmaceutical drug poisoning and because lethargic was the most frequent neurological sign, comprehensive toxicology screen tests should be included as part of the routine evaluation of children presenting to an ED with an apparent life-threatening event.Keywords: Poisoning, Children, Epidemiology, Toxicology
-
Page 194ObjectiveExposure to environmental tobacco smoke (ETS) is one of the major factors of predisposing children to develop several hazardous health problems. We decided to investigate the association between nicotinine, one of the nicotine metabolites and esophagitis in children with gastroesophageal reflux disease (GERD).MethodsIn a case control study 46 children suffering from esophagitis referred to endoscopy ward were recruited. The control group consisted of 45 healthy children. Urine samples were collected and urinary cotinine level (UCL) measured.FindingsThe mean age of esophagitis and control groups were 5.11±2.93 and 6.72±2.8 respectively. Sixty children were passive smokers; 31 of them had non-smoker parents. In control group, 32 (71.1%) children and in esophagitis group 29 (63%) children had non-smoker parents. The mean value of UCL in patients suffering from esophagitis was significantly higher than those in normal group (P=0.04, 24.98±6.4 ng/ml vs. 15.16 ± 3.9 ng/ml). Considering 50ng/ml as a cutoff point for UCL, it was significantly higher in passive smoker group than in non smoker group (P=0.02). The mean cotinine level differed significantly in esophagitis and control group.ConclusionOur results indicate the increased risk of developing esophagitis in children with ETS exposure.Keywords: Cotinine, Children, Esophagitis, Passive Smoking
-
Page 199ObjectiveSince early detection (specially before 6 months of age) of deaf people leads to better hearing and speech outcome after treatment, several clinical trials have been performed in order to find a cost effective, short duration screening test for diagnosis of neonatal hearing impairment. The aim of this study was to assess the sensitivity and specificity of Transient Otoacustic Emission (TEOAE) test in newborns comparing with auditory brain stem response (ABR) in the age of 3 months and to analyze the association between risk factors and hearing loss in neonates.MethodsA cross-sectional study was conducted January2008 - May 2009 in Tehran. 1000 newborns (526 boys and 474 girls) were assessed. First, all of neonates were evaluated by TEOAE 24h after birth. If responses of OAE were failing, they were retested 10 to 15 days after birth by TEOAE. Also, All Neonates were assessed by ABR in the age of 3 months. Descriptive Statistics was used to analyze data.FindingsEighteen out of 1000 neonates failed double–checked TEOAE tests, of which 6 were confirmed by ABR test (12 false positive results). Nine out of 1000 neonates had impaired ABR tests, from these patients, 6 had failed OAE as well, but 3 had normal OAE (3 false negative results). From these 9 patients 2 had profound hearing loss and received cochlear implantation. We found that OAE has 66.7% sensitivity and 98.8% specificity in diagnosis of neonatal hearing impairment. Its positive and negative predictive value was 33.3% and 99.7% respectively. Also we did not find statistically significant relationship between hearing loss and risk factors.ConclusionTEOAE as a simple, non-invasive, short duration and cost effective method, is a suitable test for neonatal hearing screening. Even though only two thirds of patients were detected by this method, 99.7% negative predictive value makes it a good screening test. We recommend OAE as a suitable primary neonatal hearing screening all over the country.Keywords: Hearing Loss, Sensitivity, Specificity, Auditory Brain Stem Response, Otoacustic Emission
-
Page 205ObjectiveTo evaluate mortality and short-term outcomes in very low birth weight infants admitted to the tertiary neonatal intensive care unit, Istanbul, Turkey.MethodsStudy data were recorded prospectively from January 1, 2010, to December 31, 2010. The clinical findings in neonates with birth weights <1000g were compared with infants with birth weights of between 1000g and 1499g.FindingsIn the present study, survival rates were 40% and 86.2% for infants weighing <1000g and 1000g to 1499g, respectively. There was no difference between males and females with respect to mortality (P>0.05). The mean (±standard deviation) birth weight was 985.6±150.15 g and mean gestational age was 27.5±2.04 weeks. The antenatal steroid rate was 37.2%, and the Cesarean section rate was 73%. Respiratory distress syndrome was diagnosed in 89% of the infants, with a 69% surfactant administration rate. Severe intracranial hemorrhage (IVH) (grade >II) was 14%. Grade 4 periventricular leukomalacia was 10%. Twelve (24%) infants had evidence of bronchopulmonary dysplasia (BPD). Retinopathy of prematurity (stage >II) was 4%. The correlation between ROP rate and need for ventilation therapy was present (r=0.52). Proven necrotizing enterocolitis (stage >2) was not observed. Patent ductus arteriosus (PDA) was diagnosed in 67% of the neonates. BPD, IVH, and PDA were statistically higher in neonates with a birth weight <1000g.ConclusionSurvival rate of VLBW infants increased with increasing BW. Sex was not a risk factor for mortality. The need for ventilatory therapy may be an important risk factor for ROP in infants <1500g.Keywords: Mortality, Morbidity, Neonate, Very Low Birth Weight
-
Page 212ObjectiveCystic fibrosis (CF) is a common autosomal recessive genetic disease caused by a mutation in the CF transmembrane conductance regulatory (CFTR) gene. This study attempted to identify the most common CFTR mutations and any correlations between certain mutations and the clinical presentation of the disease in CF patients in southwestern Iran.MethodsTwenty nine common CFTR gene mutations were examined in 45 CF patients.FindingsChronic cough, intestinal obstruction, dehydration, heat exhaustion and steatorrhea were the most common early clinical symptoms among our patients. The most common mutation was ∆F508, with an allele frequency of 21%. The homozygous ∆F508 mutation was observed in eight patients (18%), and three patients (7%) were ∆F508 carriers. The 2183AA>G mutation was observed in four patients, one of whom was also a ∆F508 carrier. The R1162X mutation was detected in two patients. The G542X, R334W and N1303K mutations were detected each in one patient, the first of whom was also a ∆F508 carrier.ConclusionOut of 45 patients, 27 (60%) had none of the CFTR gene mutations we tested for. The most frequent mutations in southwestern Iranian patients with CF should be identified by sequencing the entire CFTR gene in order to optimize the design of a diagnostic kit for common regional mutations.Keywords: Cystic Fibrosis, CFTR Gene Mutations, Clinical Presentation
-
Page 216ObjectiveThe purpose of this study was to investigate the effect of SPARK Physical Education (PE) program on fundamental motor skills in 4-6 year children. SPARK (Sports, Play, and Active Recreation for Kids) is an evidence based PE program designed in order to promote the lifelong wellbeing.MethodsIn total, 90 children aged 4 to 6 years were selected randomly. The children were allocated into 3 groups with separate PE programs: 1-SPARK, 2-Gymnastics and 3-Routine activity. Using the Test of Gross Motor Development (TGMD-2), a pretest was done in all groups. Afterwards, SPARK and Gym PE programs were performed for 8 weeks and 3 sessions each week. The third group used to do the routine physical education program in their daycare. After 8 weeks (24 sessions), the post tests were done for all groups with the same scoring system as the pretest.FindingsThe results showed that the SPARK program had a higher efficacy on the promotion of the fundamental motor skills comparing to the routine physical education programs or gymnastics PE group.ConclusionSPARK can be used as an appropriate alternative in order to promote the children’s motor skills.Keywords: Gross Motor, Routine Activity, Gymnastics, Wellness
-
Page 220BackgroundCytomegalovirus is an important infection in kidney Transplantation. Isolation of the CMV virus or detection of its proteins or nucleic acid in any body fluid or tissue specimen is defined as “CMV infection”.Case PresentationA 10-year-old girl was admitted frequently for vomiting and colicky watery diarrhea starting one month after renal transplantation from a non-relative living donor. Cr, BUN, serum electrolytes and also liver function tests were normal. Anti CMV IgM titer was negative before and after transplantation. On colonoscopy large aphthous like lesions were detected in the colon. CMV PCR of the lesion was strongly positive (>2000 copies/ml). The patient received Ganciclovir.ConclusionUsually CMV infected patients present with renal dysfunction after renal transplantation but other organ involvements must not be ignored. We report a patient presenting only with intestinal signs and symptoms of CMV infection.Keywords: Cytomegalovirus, CMV, Renal transplantation, Colitis
-
Page 223BackgroundPerforation of Meckel’s diverticulum by a foreign body in children is rarely reported and is usually associated with localized or generalized fibropurulent peritonitis.Case PresentationThe authors encountered such a case in a 4-year-old boy with perforation of Meckel’s diverticulum by a piece of peanut presenting as a mesentery abscess. The diverticulum was wide-based and histology showed a transmural perforation at the tip of the diverticulum.ConclusionLocal inflammation due to irritation of the foreign body and progressive pressure necrosis at the tip of the diverticulum may be the pathogenesis of mesentery abscess. A search of the English literature did not reveal any similar case.Keywords: Meckel's Diverticulum, Peanuts, Intestinal Perforation, Mesentery, Abscess
-
Page 226BackgroundMaturity onset diabetes of the young type 2 (MODY) is an inherited disorder due to mutations in glucokinase (GCK) gene, which lead to mild fasting hyperglycemia.Case PresentationHerein an otherwise healthy 9-year old boy with hyperglycemia is presented in whom the diagnosis of MODY2 was suspected. Genetic studies showed heterozygous inactivating GCK gene mutation in exon 8 (c.1010delA) in this patient. The same mutation was found in his father as well. The patient received some dietary advices without any medication.ConclusionThe identification of GCK mutation and diagnosis of MODY2 helps the clinicians to predict the disease course, prognosis and to exclude other types of diabetes.Keywords: Maturity, onset Diabetes, GCK, Fasting Hyperglycemia, Diabetes
-
Page 229Back ground: Intracranial arteriovenous malformation rarely causes pulmonary hypertension and congestive heart failure in the newborn. Its diagnosis is challenging because cardiomegaly may suggest an intra-cardiac structural lesion.Case PresentationA 2- day -old male and 11-day-old female newborns with intracranial arteriovenous malformation and misdiagnosis of congenital heart disease are presented here.ConclusionPrecise echocardiography reveled the secondary signs of cranial arteriovenous malformation and had the major role in early diagnosis.Keywords: Dilated Brachiocephalic Arteries, Congestive Heart Failure, Doppler Echocardiography
-
Page 233ObjectiveNiemann 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.MethodsWe 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 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.FindingsThe 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.ConclusionDespite similar morbidity SGA infants exhibited higher lethal complication rates following delayed meconium passage compared to AGA infants.Keywords: Niemann Pick disease, SMPD1 Gene, Acid sphingomyelinase, 1, Mutation
-
Page 241BackgroundEncephaloceles are rare congenital lesions containing neural tissue and meninges which are anterior or posterior. They can be associated with other central nervous system anomalies or very rarely tumors.Case PresentationHere we report a nine month old girl with basal encephalocele, bifid nose and hypertelorism. Anterior encephalocele was associated with a tumoral lesion that was resected and diagnosed to be mature teratoma. Her hypertelorism remained stable during follow up.ConclusionBasal encephaloceles associated with teratomas are very rarely observed. Early surgery of these lesions has been performed to stop the progression of craniofacial deformity and improve the prognosis. The suggested mechanisms of this rare association are the enrolment of neural crest cells causing both encephalocele with teratoma and interposition of tumor cells in the future skull leading to encephalocele formation