فهرست مطالب

Pediatrics - Volume:27 Issue:3, 2017
  • Volume:27 Issue:3, 2017
  • تاریخ انتشار: 1396/05/11
  • تعداد عناوین: 20
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  • Morvarid Ghasab Shirazi, Ashraf Kazemi, Roya Kelishadi, Firoozeh Mostafavi Page 1
    Context: Adolescence is associated with important physical, mental, and social changes leading to rapid changes in behavioral patterns including nutritional behaviors. The nutritional behaviors of individuals as well as changing those behaviors should be recognized to design an effective program. The present study sets to recognize determinants of the adolescents’ nutritional behaviors based on the social-ecological model.
    Evidence Acquisition: In an extensive literature review, all Farsi and English articles adopted quantitative studies, which were either cross-sectional, longitudinal, or clinical trials. Furthermore, all Farsi and English qualitative studies published from 1990 to 2016 were reviewed. For this purpose, Scopus, Medline, Embase, Cochrane central register of controlled trials and Cochrane database systematic review databases, as well as Farsi databases including Iranmedex, SID, and Magiran were searched. Keywords included nutritional behaviors of teenagers (eating breakfast, fruits, and vegetables, fast foods, unhealthy snacks) and determinant factors. After extracting the effective factors, they were categorized into social-ecological mode.
    Results
    Since ecological models are focused on individuals’ interactions with cultural, environmental, and social factors, applying them to determine the effective factors, and designing interventions based on these factors could enhance the programs for improvement of teenagers’ nutritional behaviors.
    Conclusions
    Changes in intrapersonal and environmental factors could have a more effective role in making changes in teenagers’ nutritional behaviors. Since some of these factors become key factors in different social-cultural contexts, nutritional changes in societies have a decisive role in their significance. The significance level of factors and their effect on the target society must be considered for designing more effective interventions.
    Keywords: Nutritional Behaviors, Teenagers, Ecological Model
  • Parsa Ghavam, Maryam Monajemzadeh, Mohammad Taghi Haghi Ashtiani, Setareh Mamishi, Narges Nodeh Farahani, Parin Tanzifi Page 2
    Background
    Shigellosis is a diarrheal disease caused by Shigella spp. The majority of cases and deaths occur among children less than 5 years old. In severe cases, antibiotic therapy is recommended to lessen the risk of serious complications and death. Prevalence of different Shigella species and their antibiotic resistance patterns are changing over the time.
    Objectives
    The current study aimed at assessing the changes in the prevalence of Shigella species and their antibiotic susceptibility among 0- to 14-year-old children referred to Children’s Medical Center, Tehran, Iran, from 2009 to 2014.
    Methods
    The results of stool cultures were retrospectively analyzed to determine the prevalence of different Shigella species, their antibiotic susceptibility patterns and their changes in the largest university affiliated pediatrics center in Tehran.
    Results
    Among 40 700 stool cultures, 507 cases were positive for Shigella spp. Most cases occurred among children under 5 years old. Shigellosis was more prevalent among males. The most common species were Shigella sonnei and Shigella flexneri. In general, they were most sensitive to cefotaxime and most resistant to cotrimoxazole. Resistance to cefotaxime and nalidixic acid increased annually. Resistance to ampicillin had a descending trend. Resistance to cotrimoxazole remained almost constant.
    Conclusions
    The most common species of Shigella changed from Shigella flexneri to Shigella sonnei over the years. In comparison with the previous studies, resistance to nalidixic acid increased and resistance to ampicillin decreased. The prevalence and antibiotic resistance patterns of Shigella species, at different times and regions are changing. To make appropriate decisions on treatment, it is necessary to monitor the changes.
    Keywords: Dysentery, Antimicrobial Susceptibility, Pediatrics, Shigella spp
  • Seung Jun Choi, Eun-Ju Ha, Won Kyoung Jhang, Seong Jong Park Page 3
    Background
    Platelet indices are used as predictive marker of mortality in adult critically ill patients.
    Objectives
    To compare platelet counts, mean platelet volumes (MPV), and platelet distribution widths (PDW) in surviving and non-surviving pediatric septic shock patients and to assess whether platelet count and indices can be utilized as predictive markers of mortality in these patients.
    Methods
    A retrospective study was performed based on collected data on pediatric patients admitted for septic shock to pediatric intensive care unit. Complete blood cell count, platelet counts, MPV, and PDW on admission were compared in survivors and non-survivors, as well as in patients with and without underlying hemato-oncologic disease.
    Results
    Of 83 children, 21 (25.3%) died within 28 days of hospital admission. Mean platelet count was significantly higher in the 62 survivors than in 21 non-survivors (146.6 ± 133.7 × 103/mm3 vs 46.1 ± 44.1 × 103/mm3, P = 0.000). MPV and PDW were also higher in survivors, though not statistically significant (P = 0.059, P = 0.077). The platelet counts were significantly higher in survivors than in non-survivors with (P = 0.044) and without (P = 0.015) hemato-oncologic disease. Based on area under receiver operating characteristic curves, platelet count was the strongest predictor of mortality in pediatric patients without underlying hemato-oncologic disease (area under the curve = 0.857). The survival probability in this group was 96.77% when platelet count exceeded 106.5 × 103/mm3.
    Conclusions
    Thrombocytopenia is a useful predictive marker of mortality in pediatric septic shock patients, both with and without underlying hemato-oncologic disease.
    Keywords: Septic Shock, Pediatrics, Platelet Indices, Pediatric Intensive Care Unit, Mortality
  • Zohreh Karamizadeh, Ahmad Reza Rasekhi, Sara Kashef, Forough Saki, Soheil Ashkani-Esfahani Page 4
    Background
    It has long been reported that gonadotropin releasing hormone (GnRH) analogs can improve final height of patients with idiopathic precocious puberty (IPP). This study aimed at comparing 2 different doses of GnRH agonist, triptorelin, on the adult height of girls with IPP.
    Methods
    From July 2013, sixteen girls with IPP were randomly divided to 2 groups. The first Group received 1 intramuscular injection of triptorelin 0.3 mg/kg of body weight on a monthly basis, and the second group received this at months 1 to 6, 10 to 15, and 19 to 24. They did not receive triptorelin at months 7 to 9 and 16 to 18.
    Results
    Patients in Group 1 received a total of 7.2 mg/kg of triptorelin during a 2-year follow up while the Group 2 received 5.4 mg/kg triptorelin or about 39.6 mg less than the other group during the same period of follow up. No side effects were noted in Group 2 receiving lower dose of triptorelin, yet, 2 cases with gray hair and 1 case with mild rash were reported in the group receiving the higher dose. No statistically significant difference was found between the 2 groups regarding height after 2 years.
    Conclusions
    Treatment of IPP can be performed with triptorelin doses of less than 0.3 mg/kg per month, with the same height increment and lower side effects.
    Keywords: Triptorelin, Idiopathic Precocious Puberty, Gonadotropin Releasing Hormone Analog, Height
  • Zahra Razavi, Farimehr Hamidi Page 5
    Background
    Diabetic ketoacidosis (DKA) is an acute and life-threatening situation that accounts for the majority of diabetes-related morbidity and mortality in children and adolescents who suffer from type 1 diabetes mellitus (T1DM).
    Objectives
    To investigate the demographic, clinical characteristics, and outcomes of DKA in young patients with established T1DM and newly diagnosed diabetes in a tertiary referral hospital.
    Methods
    Data from all T1DM patients diagnosed with DKA episodes in the pediatric endocrine unit at Besat university hospital, Hameden, Iran during 2006 - 2013 were reviewed in a retrospective study. The data collected includes the demographic data (age, sex, place of residence, first presentation and established T1DM), clinical presentation (main presenting symptoms, average duration of presenting symptoms before hospitalization, precipitating factors, severity of DKA, level of consciousness), laboratory parameters (blood sugar, arterial blood gases, urine ketones, serum electrolytes) and the outcome. DKA was defined as a glucose level higher than 250 mg/dL, pH 15 mmol/L and ketonuria. Data was entered and analyzed on SPSS version 16. A P value less than 0.05 were defined as statistically significant.
    Results
    The study population comprised 72 children satisfying the inclusion criteria of the study. Mean age of patients was 9.4 ± 4.08 years (range 5 months-18.2 years). The majority (61.1%) of patients were urban residents. DKA occurrence was higher (29.2%) in summer. Newly diagnosed diabetics accounted for 59 (81.9%) of the patients. The majority of the patients (54.2%) were aged 10 - 14 years. The median duration of symptoms before the hospitalization was 9.5 ± 9 days. The most commonly reported presenting symptoms were polyuria (86.1%), polydipsia (84.7%) followed by gastrointestinal symptoms. Nearly 40.2% of patients presented with an altered level of consciousness. About half of patients had a medical encounter before diagnosis. The mean initial blood glucose was 423 ± 96 mg/dL. Severe DKA was occurring more frequently than moderate and mild forms (47.2%, versus 34.7% and 18.1%, respectively). DKA was significantly more severe in girls (P = 0.004). Average time of recovery was 21 hours (range 4 - 75 h). The commonest complication was hypokalemia (34.7%) followed by hypernatremia (26.4%). There was a significant relationship between hypokalemia and clinical severity (P = 0.02), and between abdominal pain and severity of DKA (P = 0.003). No deaths occurred.
    Conclusions
    DKA was most prevalent in newly diagnosed TIDM cases. Most cases had severe DKA. Female children, in particular, seem to be at increased risk for severe DKA. Newly diagnosed T1DM and insulin omission were the main factors associated with DKA. The age of presentation and clinical symptoms of studied subjects were similar to international studies. No lethal complication was recorded. High frequency of DKA at presentation of T1DM requires careful attention to issues of early diagnosis before development of ketoacidosis.
    Keywords: Hyperglycemia, Diabetes Mellitus Type 1, Ketoacidosis, Children
  • Chengguang Zhao, Yubin Wu Page 6
    Objectives
    The database on cadmium (Cd) concentration in children is limited, especially in China. The present study aimed at evaluating the body burden of Cd and to propose reference values for urine Cd in young children, who lived in areas with no point sources of metal exposure.
    Methods
    Overall, 1170 children aged from 1 month to 17 years old were enrolled in the study. A questionnaire was used to obtain essential information about age, gender, etc. Urine samples were collected to determine urinary Cd and urine creatinine.
    Results
    A total of 1070 children, 544 males and 526 females, were included in the analysis. Based upon their age, the population was divided to three age groups (0 to 5 years, 6 to 11 years, and 12 to 17 years). The reference value of urinary Cd for children without disease and Cd exposure was as follows: 0 to 5 years
    Conclusions
    In this study, we determined urine cadmium levels in children from non-polluted areas in china. The reference intervals could be used to offer recommendations for clinical work.
    Keywords: Urine Cadmium, Children, Non-Polluted Areas, Urine Creatinine
  • Mirhadi Mussavi, Khairollah Asadollahi, Mirnia Kayvan, Shahram Sadeghvand Page 7
    Background
    To date there is no effective drug treatment for transient tachypnea of the newborn (TTN) and respiratory support is the only means to handle this disease. This study was performed to evaluate the effect of albuterol (Salbutamol) in improvement of respiratory distress in involved neonates.
    Methods
    We conducted a randomized, blinded, placebo-controlled clinical trial Neonates with TTN received either nebulized albuterol (30 neonates) or placebo (30 neonates), and early clinical parameters were measured during and after treatment.
    Results
    Totally 60 neonates including 31 males and 29 females, mean gestational age of 36.9 ± 1.69 weeks, mean weight of 2703 ± 589 gr, were analyzed. Respiratory distress score was significantly decreased in treatment compared to placebo group (from 5.6 at the start to 1.7 at the end of study vs 5.6 to 3.9 respectively) and the PO2 was significantly increased in neonates receiving nebulized albuterol compared to the placebo group (from 58.5% at the start to 84.8% at the end of study vs 58.2% to 70.2% respectively). No adverse effects were observed in either group. The duration of continuous positive airway pressure (CPAP) application was significantly decreased in the treatment group compared to the placebo group (1.6 ± 0.77 vs. 3.3 ± 0.98 respectively) (P = 0.0001).
    Conclusions
    Application of nebulized albuterol caused a considerable improvement in the respiratory distress of neonates at its primary hour of using via reduction of respiratory scores, duration and concentration of oxygen requirement, and duration of CPAP without any side effects. Therefore, this drug can be applied in the treatment of Transient Tachypnea of the Newborn appropriately.
    Keywords: Transient Tachypnea of the Newborn, Salbutamol, Nebulized Albuterol
  • Audrey Philisiwe Mbethe, Siyazi Mda Page 8
    Background
    The judicious use of the world health organization (WHO) guidelines in the management of severe acute malnutrition (SAM) is very crucial in avoiding complications. We investigated the incidence of refeeding syndrome and its associated factors in children under 5 years with SAM receiving treatment as inpatients.
    Methods
    A prospective study of 104 children with SAM admitted to the paediatric unit of Dr George Mukhari Academic Hospital (a teaching hospital in Pretoria, South Africa) since March 2014 to March 2015 was conducted. On admission, history on socioeconomic status and co-morbidities, a comprehensive clinical examination, and anthropometric measurements were obtained. All the patients were managed using the 10 steps of management of malnutrition with cautious feeding and broad spectrum antibiotics being instituted. Bloods were taken for calcium, magnesium, phosphorous, urea, and electrolytes on admission and compared to repeat bloods done on day 5 post admission.
    Results
    There were a total of 46 (44%) females. The mean age was 16 months with a mean weight-for-height Z-score of -2.15 ± 1.87. The majority 63% (63/104) of the children had oedematous SAM. There was an HIV infection rate of 33% (35/104). The incidence of refeeding syndrome was 16/104 (15%). Refeeding syndrome was strongly associated with the following medical complications: diarrhoea 81% (13/16), shock 25% (4/16), and hypokalaemia 81% (13/16) (P value
    Conclusions
    The complication of refeeding syndrome is a major problem that occurs with the reintroduction of feeding in children with severe acute malnutrition. This detrimental complication can be avoided by practices that promote cautious feeding, and as well, clinicians being vigilant in detecting the complication in all children with severe acute malnutrition.
    Keywords: Severe Acute Malnutrition, Refeeding Syndrome, Hypophosphataemia, Medical Complications
  • Narges Afzali, Abdolreza Malek, Ladan Cheraghzadeh Page 9
    Background
    Chronic constipation is a common problem in children and makes a significant portion of the outpatient visits. Because sacral disorders would impair the defecating mechanism, this study was aimed to evaluate sacral ratio (SR) as a criterion of sacral bone and its association with chronic constipation.
    Methods
    This study was performed on 52 children aged 0 - 15 years referred to the radiology department during 2014 - 2015. The case group included 26 patients with chronic functional constipation and the control group included 26 others without chronic constipation, which had been referred for pelvic radiography for other reasons such as trauma or suspected hip joint problem; Anterior-posterior pelvic radiography was done for both case and control groups and SR in each group was calculated and compared.
    Results
    The case group included 14 females and 12 males with average age of 5.20 ± 3.61 years and the control group included 20 females, and 6 males with average age of 6.97 ± 4.09 years. The defecation occurred once a week in 50% of all children in study group, 26% of them had no defecation in a week. In control group, 54% had defecation once or twice a day. Mean SR in the study group was 0.8 ± 0.12 and the control group was 0.826 ± 0.15, but the difference was not statistically significant (P > 0.05). Other variables including gender and times of defecation did not show significant relation with SR. The mean of SR in continent cases was more than incontinent cases, although not statistically significant (P = 0.216).
    Conclusions
    In this study, SR showed a wide range of values in both groups and the mean SR in control group was more than the study group but this difference was not statistically significant. Therefore, the sacral ratio canot be seen as a useful tool for evaluating chronic constipation in children.
    Keywords: Constipation, Sacral ratio, Defecation
  • Pedram Ataee, Vahidreza Afrasiabi, Bahram Nikkhoo, Mehri Najafi Sani, Ramesh Rahehagh, Ebrahim Ghaderi, Maryam Monajemzadeh, Asadollah Fathollahpour, Banafsheh Sedaghat, Froozan Kariminejhad, Jaleh Parizad, Kambiz Eftekhari Page 10
    Background
    Chronic abdominal pain in children is a common disorder. For an accurate diagnosis of its cause, sometimes invasive diagnostic procedures such as endoscopy should be performed.
    Objectives
    The purpose of the study was to evaluate the fecal calprotectin in children with upper gastrointestinal signs and symptoms and to compare it with endoscopic findings.
    Methods
    A total of 131 children aged 1-14 years with upper gastrointestinal symptoms were enrolled during 2012 - 2013 at two centers. One hundred and twenty patients underwent endoscopy and biopsy. Before endoscopy, the level of calprotectin was measured by the enzyme-linked immunosorbent assay test in stool samples and the results were compared with the endoscopic and pathology findings.
    Results
    Of the 120 children included in this study, 71 (59.2%) were males and 49 (40.8%) females with a mean age of 93.6 months. Of the 112 patients in whom biopsies were taken, 16 had esophagitis, 89 chronic gastritis (79.5%) and 57 colonization with Helicobacter pylori.
    Conclusions
    There was a statistically significant correlation between fecal calprotectin and gastritis and severity of H. pylori infection. Fecal calprotectin level measurement can avoid unnecessary endoscopies and is also useful for evaluation of therapy response.
    Keywords: Endoscopy, Feces, Calprotectin, Gastrointestinal Disease, Children
  • Heng Xue, Xiaoguang Xue, Changyi Yang, Qingquan Chen, Ni Lin, Yujun Lin, Min Chen, Dongdong Rao, Huizi Lin Page 11
    Background
    The diagnosis of neonatal sepsis remains a challenge as the condition lacks early clinical signs and reliable biomarkers.
    Objectives
    The aim of our study was to determine whether serum mannose binding lectin (MBL) levels and genotypes of MBL2 gene could be used as markers for predicting neonatal sepsis in the Chinese Han population.
    Methods
    This prospective study was hospital-based in design. 48 neonates with clinical signs and symptoms of septicemia (study group), and 96 infants with no infection (control) were included. All the neonates are Chinese Han descent. MBL2 promoter polymorphisms at positions -550, -221 and were analyzed by direct sequencing, and serum MBL levels were estimated by enzyme-linked immunesorbent assay.
    Results
    Frequencies of genotype -221 YX were significantly higher in the study group (45.8%) compared with the control group (15.60%; P = 0.00009). The median serum MBL level was found to be significantly lower in infants who had the -221YX genotype (214.54 ng/mL) compared with those who had the -221YY genotype (597.85 ng/mL; P
    Conclusions
    This study suggested that serum MBL and the -221 YX genotype of the MBL2 gene might be predisposed factors for sepsis in the Chinese Han population.
    Keywords: Genotype, MBL, Neonatal Sepsis, Polymorphism, Susceptibility
  • Banu Karakus Yilmaz, Yahya Ayhan Acar Page 12
    Background
    Abdominal pain is one of the most common complaints and appendicitis is the most common etiology of acute abdominal pain in the emergency departments for pediatric population.
    Objectives
    The current study aimed at evaluating the diagnostic reliability of neutrophil to lymphocyte ratio in the appendicitis in pediatric population.
    Methods
    The current retrospective descriptive study screened pediatric patients (
    Results
    A total of 658 subjects were included in the study and 628 of them were in the AA group. There was no difference in age and gender between the 2 groups (P values = 0.872 and 0.182, respectively). White blood cell (WBC) count (P = 0.012), neutrophil count (P
    Conclusions
    Neutrophil-to-lymphocyte ratio seems a good predictor in the diagnosis of acute appendicitis in pediatric population.
    Keywords: Appendicitis, Neutrophils, Lymphocytes, Pediatrics
  • Naeimeh Daneshmandan, Farin Soleimani, Nadia Azari, Pouya Mahmoudzadeh Tussi, Poopak Izadi Page 13
    Background
    Otitis media is an important health care problem in school-age children. Moreover, the prevalence of allergic rhinitis, a major and common cause of otitis media, is increasing among children. Recurrent otitis media may occur without any noticeable symptoms and affect the auditory threshold (AT). Only a few decibles increase in hearing loss does not have the same effect on the hearing ability of individuals with different degrees of hearing loss. With this background in mind, in this study, we aimed to determine whether diagnosis and medical treatment of overlooked recurrent otitis media are associated with the educational achievement of students with sensorineural hearing impairment.
    Methods
    The present study with a pretest-posttest design was conducted on 30 students (aged 12 - 20 years) with bilateral sensorineural hearing impairment, AT above 30 dB HL in the better ear, and recurrent (2 episodes) middle ear infection over 9 months during 2012 - 2014. The participants were examined regularly and received medical treatment when indicated. The mean scores of total average, Persian literature (eg, reading, writing, and spelling), and mathematics were measured to assess the subjects’ educational achievement.
    Results
    Based on the findings, the total average scores significantly changed from 16.2 to 17.2. Also, the students’ Persian literature (from 16.8 to 18) and mathematics (from 13.8 to 16.7) scores were significantly improved. In addition, AT considerably decreased after the medical intervention (from 73 ± 14.7 to 56.3 ± 13.8 dB HL).
    Conclusions
    It seems that detection and treatment of overlooked middle ear infection in hearing impaired students, as part of comprehensive health care services, can improve their AT, diminish their hearing disabilities, and ameliorate their educational difficulties; consequently, provision of health care services is associated with better educational achievement.
    Keywords: Otitis Media, Auditory Threshold, Educational Achievements, Sensorineural Hearing Loss, Comprehensive Health Care
  • Jumana Hanna Albaramki, Manar Awad Allawama, Al-Motassem Fahme Yousef Page 14
    Objectives
    Aim of this study was to determine the pattern of toilet training (TT) in Jordan, the factors that are related to the initiation age, duration and the methods of training used among different sociocultural groups.
    Methods
    Mothers of 1257 children attending pediatric clinics at Jordan University Hospital were directly interviewed.
    Results
    Mean initiation and completion ages were 22.5 ± 6.50 and 26.48 ± 9.37 months respectively. Families living in urban settlement, first child in family, child-oriented approach, working mothers and mothers with higher level of education started training later. The duration of toilet training was 5.80 ± 8.06 weeks and it was shorter in families who used the child-oriented approach. Intensive method was used in 59.4%, child-oriented in 40.6%. Young mothers used more frequently the intensive method. Constipation and stool toilet refusal developed in 15.4% and 15.1% respectively and there was a significant association between constipation and older age of starting toilet training.
    Conclusions
    Intensive method of training is more popular in our country and the initiation and completion age are earlier than in other countries. The age of initiation may be increased as parents are better educated and a child-oriented approach becomes more popular than the intensive approach.
    Keywords: Toilet Training, Child-Oriented Approach, Intensive Method, Jordan
  • Jamil Esfahanizadeh, Kambiz Alizadeh, Masoomeh Tabari, Azra Izanloo, Khadijeh Yaghobi, Mona Najaf Najafi Page 15
    Background
    Video-assisted thoracoscopic surgery (VATS) has been shown to be a safe and effective method for the patent ductus arteriosus (PDA) closure. This study aimed at evaluating the patients with PDA who underwent the VATS closure.
    Methods
    In this retrospective descriptive study, the medical records of 129 patients with the mean age of 35.44 months who underwent VATS were assessed during 2003 - 2016. Demographic data, mortality rate and surgery events were also recorded and reported.
    Results
    The results showed that 9.3% of the patients had conversion to thoracotomy and less than 2.3% (3 cases) of the patients developed pulmonary complications: two chylothorax and one residual shunt. The mortality rate of these patients was zero.
    Conclusions
    Results of this study showed that the PDA surgery using the VATS method could reduce the mortality rate, complications and side effects.
    Keywords: PDA, Heart Surgery, Video-Assisted Thoracoscopic Surgery, VATS
  • Veysel Gok, OzgÜl Yigit, Ozlem Bostan Gayret, Sahin Hamilcikan Page 16
    Background
    Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterised by recurrent fever, peritonitis, pleuritis, and arthritis. Three hundred and seventeen mutations and polymorphisms related to FMF have been identified to date.
    Objectives
    The evaluation of the distribution of genetic mutations in children whose FMF study was conducted in Marmara region in Turkey and the relationship between clinical findings and the mutation was aimed in the study.
    Methods
    The files of all patients whose pre-diagnosis of FMF and MEFV gene mutation analysis were made, were evaluated retrospectively. The results of the MEFV gene mutation analysis of the patients were screened retrospectively. Common MEFV gene mutation analyses were studied. The age, gender, presenting complaints, and histories of the patients were obtained from the files and records.
    Results
    A total of 150 patients were included in the study. The mean age of the cases was 9.37 ± 4.43 years; 78 were female and 72 were male. Sixty-seven (44.7%) of the cases had abdominal pain, 30 (20%) had arthralgia, 25 (16.7%) had fever, 2 (1.3%) had chest pain, and 30 (20%) had other complaints. While the mutation with the highest frequency was R202Q (37.2%), it was observed that allele frequencies following this were E148Q (23.4%), M694V (21.9%), V726A (5.1%), and M680I (2.9%). Abdominal pain was detected as the most frequent presenting complaint.
    Conclusions
    Although M694V gene mutation is the most frequently observed mutation in Turkey, we identified that the most frequent gene mutations were R202Q and E148Q in this study. This situation may be because most of our patients were from Anatolian regions where there are many ethnic groups. When the distribution of genotypes was examined by complaint, the most frequent complaint identified in all gene mutations was abdominal pain.
    Keywords: Familial Mediterranean Fever, MEFV, Abdominal Pain, Fever
  • Parastoo Rostami, Johannes H., Auml, Berle, Arya Setoudeh, Johannes Zschocke, Fatemeh Sayarifard Page 17
    Introduction
    The argininosuccinate lyase (ASL) gene encodes argininosuccinate lyase (ASL), which is one of the six enzymes of the urea cycle that detoxifies blood ammonia. Argininosuccinate lyase deficiency impairs the function of the urea cycle and causes hyperammonemia, neurodevelopmental delay and hepatopathy.
    Case Presentation
    Here we report two patients with argininosuccinate aciduria. They were treated with peritoneal dialysis and scavenger drugs. Molecular genetic testing showed two novel homozygous mutations, c.146T > G (p.Leu49Arg) in exon 3 and c.1144-1G > C in intron 15 of the ASL gene.
    Conclusions
    This report intends to underline the importance of pediatricians being aware of the existence of a metabolic disease in any ill neonate. Diagnosis of urea cycle disorders is particularly important because of availability of effective treatment options.
    Keywords: Hyperammonemia, Argininosuccinate Lyase, Argininosuccinic Aciduria, Urea Cycle
  • Maliheh Kadivar, Razieh Sangsari, Leila Shahbaznejad, Vahid Ziaee Page 18
    Introduction
    Neonatal lupus erythematous (NLE) is a neonatal autoimmune disease, due to passage of maternal autoantibodies against Ro/SS-A, La/SS-B, and U1-ribonucleoprotein, with multi organ involvement. Although the clinical manifestations of NLE include cutaneous, cardiac, hematologic, and hepatobiliary system involvement, the most common clinical manifestations are skin rash and heart involvement. Congenital heart block in the absence of structural cardiac abnormalities is the most commonly observed manifestation. The most clinical manifestations of NLE are self-limited and resolve without serious treatment, except heart block that may need a pacemaker. In rare instances, more severe complications may occur, and necessitate more aggressive immune suppressive therapy.
    Case Presentation
    Here we present a neonate girl who developed cutaneous, cardiac, liver, brain, splenic, kidney, and hematologic abnormalities. After 2 months of aggressive immune suppressive therapy she could be discharged. The treatment was tapered stepwise and discontinued at the age 1 year. At the age of 4 years she was in a favorable health condition.
    Keywords: Neonatal Systemic Lupus Erythematous, Infant, Autoimmune Disease
  • Khaled Rahmani, Shahin Yarahmadi, Koorosh Etemad, Yadollah Mehrabi, Nasrin Aghang, Ahmad Koosha, Hamid Soori Page 20