Iranian Journal of Pediatrics

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ISSN / EISSN : 2008-2142 / 2008-2150
Published by: Kowsar Medical Institute (10.5812)
Total articles ≅ 1,136
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Sevda Riyahifar, Reza Ali Akbari Khoei,
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.105984

Abstract:
Background: Congenital malformations are one of the most important and common types of anomalies in infants, and they are considered as the leading causes of disability and mortality in children. These malformations impose enormous costs on families and organizations involved in the treatment, maintenance, and education of patients. Objectives: This study aimed to investigate the risk factors affecting the incidence of congenital anomalies in infants born in Iran. Methods: In this retrospective descriptive-analytical study, we registered various information of all newborns examined and their mothers, including gender, family relationship of parents, type of delivery, types of congenital malformations, anomalies of the hands and feet, and anomalies of the nervous and reproductive systems in the maternity wards of hospitals in Iran. Data were gathered using a checklist. The relationships between different factors were assessed by chi-square test, and the factors influencing congenital malformations were investigated by logistic regression using SPSS-26 software. The significance level of all tests was 0.05. Results: According to the results, 7.5% of newborns had congenital malformations. Eclampsia and diabetes mellitus increased the risk of congenital malformations by 15 and 11%, respectively. The risk of congenital malformations in rural areas was 12% higher than in urban areas. Factors such as consanguineous marriages, history of abortion, and gender also affected the risk of congenital malformations. Conclusions: Necessary measures and plans in the field of premarital counseling, regular pre-pregnancy and post-pregnancy tests and controls, especially in rural and deprived areas, are essential and effective in reducing the incidence of congenital malformations.
Mesut Dursun, Umut Zubarioglu
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.117193

Abstract:
Background: Respiratory severity score (RSS) is a simple, non-invasive respiratory failure assessment tool that its appropriateness for lung disease severity is well-established. Objectives: This study aimed to investigate the potential value of early-life RSS values in predicting mortality or severe bronchopulmonary dysplasia (BPD) in infants with extremely low birth weight (ELBW) undergoing invasive mechanical ventilation. Methods: Following a retrospective approach, the current multi-center study intended to estimate the RSS and RSS/kg values in the first three days of life and time-weighted means of these values in ELBW babies who received invasive mechanical ventilation. Participants were categorized into two groups of survival without severe BPD and those with severe BPD or death. All RSS values and other risk factors were compared between groups. A multivariate logistic regression analysis was used to identify factors affecting severe BPD or death. The sensitivity and specificity of RSS values in predicting severe BPD or death were estimated using receiver operating characteristic (ROC) curves. Results: A total of 101 infants met the inclusion criteria. All RSS and RSS/kg values in the first three days of life were found to be significantly higher in the severe BPD or death group. The maximum area under the curve (AUC) in the ROC curves created for the respiratory severity score values was determined as RSS/kg mean with a cut-off value of 3.62 (85.3%), (P = 0.001). According to the multivariate logistic regression analysis, which included risk factors that may affect the development of severe BPD or mortality, both the mean RSS/kg score and the duration of invasive mechanical ventilation maintained statistically significant. [RSS/kg mean; OR = 2.28 (1.37 – 3.78), P = 0.001], [invasive MV duration; OR = 1.08 (95% CI, 1.03 – 1.14), P = 0.003]. Conclusions: This study demonstrated that high RSS/kg mean values in the early periods of life are valuable in predicting severe BPD or death in ELBW babies undergoing invasive mechanical ventilation. Furthermore, mean RSS had more predictive power than single RSS determinations, and incorporating body weight was associated with improved sensitivity of the score.
Tian Xia, Ying Pang, Huimin Xiong
Iranian Journal of Pediatrics, Volume 31; https://doi.org/10.5812/ijp.115288

Abstract:
Background: Myopia is a very common eye disease with an unknown etiology. Increasing evidence shows that mitochondrial dysfunction plays an active role in the pathogenesis and progression of this disease. Objectives: The purpose of this study was to analyze the relationship between mitochondrial tRNA (mt-tRNA) variants and high myopia (HM). Methods: The entire mt-tRNA genes of 150 children with HM, as well as 100 healthy subjects, were PCR-amplified and sequenced. To assess the pathogenicity, we used the phylogenetic conservation analysis and pathogenicity scoring system. Results: We identified six candidate pathogenic variants: tRNALeu (UUR) T3290C, tRNAIle A4317G, tRNAAla G5591A, tRNASer (UCN) T7501C, tRNAHis T12201C, and tRNAThr G15915A. However, these variants were not identified in controls. Further phylogenetic analysis revealed that these variants occurred at the positions, which were very evolutionarily conserved and may have structural-functional impacts on the tRNAs. Subsequently, these variants may lead to the impairment of mitochondrial translation and aggravated mitochondrial dysfunction, which play an active role in the phenotypic expression of HM. Conclusions: Our results suggested that variants in mt-tRNA genes were the risk factors for HM, which provided valuable information for the early detection and prevention of HM.
, Seyed Mohsen Dehghani, Maryam Poostkar, Seyed Ali Malek-Hosseini
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.117380

Abstract:
Background: Progressive familial intrahepatic cholestasis is a disease presenting with severe cholestasis and progressing to the end-stage liver disease later. Liver transplantation is a treatment modality available for progressive familial intrahepatic cholestasis, especially in patients with end-stage liver disease or those who are unsuitable for or have failed biliary diversion. Objectives: To evaluate clinical and pathological characteristics of progressive familial intrahepatic cholestasis patients who had undergone liver transplantation and to determine post-transplant steatosis and steatohepatitis. Methods: We evaluated 111 progressive familial intrahepatic cholestasis patients with normal gamma-glutamyl transferase that performed liver transplantation in Shiraz Transplant Center in Iran between March 2000 and March 2017. Results: The most common clinical manifestations were jaundice and pruritus. Growth retardation and diarrhea were detected in 76.6% and 42.5% of the patients. After transplantation, growth retardation was seen in 31.5% of the patients, and diarrhea in 36.9% of them. Besides, 29.1% of the patients died post-transplant. Post-transplant liver biopsies were taken from 50 patients, and 15 (30%) patients had steatosis or steatohepatitis, five of whom (10%) had macro-vesicular steatosis alone, and 10 (20%) had steatohepatitis. Only one patient showed moderate bridging fibrosis (stage III), and none of them showed severe fibrosis. Conclusions: Liver transplantation is the final treatment option for these patients, and it can relieve most clinical manifestations. However, post-transplant mortality rate was relatively high in our center. Diarrhea, growth retardation, and steatosis are unique post-transplant complications in these patients. The rate of post-transplant steatosis and steatohepatitis in patients with liver biopsy in our study was 30%, with a significant difference from previous studies.
Hoon Ko, Hyoung Doo Lee, Gil Ho Ban, Geena Kim, Joung-Hee Byun, Tae Hong Kim, Kwang Ho Choi, Hyungtae Kim
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.117162

Abstract:
Background: The percutaneous transcatheter closure of patent ductus arteriosus (PDA) has been a widely used treatment method. However, PDA device closure in neonates or patients with specific PDA morphology has been difficult due to the protrusion of the device into the descending aorta. The right angle between the disc and plug causes some degree of protrusion of the disc into the descending aorta because normal PDA forms an acute angle with the descending aorta. Objectives: There have been limited data about the angles of PDA since Mancini’s study in 1951, and new studies are required in this regard. This study measured the angles between PDA and descending aorta through angiography in a beating heart. Methods: Within December 2008 to November 2016, 190 patients undergoing percutaneous PDA occlusion were included in this study. Retrospectively, the mean angle of PDA was measured by three cardiologists between the longitudinal axis of the descending aorta and the longitudinal axis of the PDA through an aortogram. The patients were divided into three groups according to age (group A: under 1, group B: 1-6, and group C: over 6 years of age) and PDA morphology based on Krichenko’s classification (type A: conical PDA, type B: window PDA, type C: tubular PDA, type D: complex PDA, and type E: elongated PDA). Results: Of 190 study patients, 135 patients were female, and the median age of the patients was 7 years (range: 75 days to 60 years). The mean angle of PDA was 48.2 ± 12.0°. There were no statistical differences regarding PDA angle among the groups classified by age and PDA morphology. Conclusions: The authors are hopeful that the obtained data will help develop a better device for the percutaneous transcatheter closure of PDA.
Hamid Amoozgar, Saeed Safniyat, , Hamid Mohammadi, , Gholam Hossein Ajami, Reza Dehghani, Amir Naghshzan, Neda Bagherian, Sajad Shabanpuor-Haghighi
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.112471

Abstract:
Background: Atrial septal defect and its closure can lead to changes in the right and left cardiac cavities' function and size. In this study, Z-scores of the cardiac chambers and the heart function were assessed, and the important complications were mentioned. Methods: This interventional cross-sectional study was done on patients who had atrial septal defect closure aged younger than 18 years. All patients were recruited for transthoracic echocardiography. About half of the patients were randomly selected. The information of angiography and its side effects belong to all patients, but the echocardiographic parameters and Z-scores belong only to the selected group. Results: A total of 370 patients underwent the atrial septal defect closure, of whom 150 patients participated in the study. The patients' average age and weight were 9.25 ± 3.44 years and 15.12 ± 11.83 kg, respectively, and the mean follow-up time was 2.56 years. Z-scores of the interventricular septal dimension in diastole, the left ventricular posterior wall dimension in diastole, the left ventricular internal dimension in systole, and Z-scores of the size of the right atrium, right ventricle, pulmonary valve annulus, and the main pulmonary artery were more than Z-scores of the normal population. Furthermore, Z-scores of the E/A and the Eat/Aat of the tricuspid valve were less than their peers. Besides, the correlation between Z-scores and the atrial septal defect size and weight of the patients was assessed, which was statistically significant, and patients who underwent atrial special defect closure at the age of fewer than three years and less than 15 kg had more normal cardiac Z-scores. Conclusions: Z-scores of the cardiac chambers and pulmonary artery were more than normal after successful closure of the atrial septal defect in the mid-term follow-up.
Emine Turkkan, Huseyin Dag, Okan Dikker, Nevin Cetin Dag, Alper Kacar, Soner Sazak
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.117353

Abstract:
Background: Omentin-1 is an adipocytokine secreted from visceral adipose tissue that is thought to increase insulin sensitivity. Non-alcoholic fatty liver disease (NAFLD) is a comparatively extensive problem in obese adolescents. Decreased omentin-1 levels have been reported in obese patients, but the relationship between NAFLD and omentin-1 is contradictory. Objectives: We aimed to evaluate the omentin-1 levels in the sera of obese adolescents with and without NAFLD and compare them with each other. Methods: In this study, a total of 88 adolescents (56 obese and 32 normal-weight) were enrolled. Abdominal ultrasonography (US) identified 28 obese adolescents with grade 2-3 hepatosteatosis constituting the NAFLD group and 28 without hepatosteatosis on US constituting the non-NAFLD group. The control group included 32 age- and gender-matched cases without hepatosteatosis and with normal percentile body mass index (BMI). Serum omentin-1 levels were evaluated and compared. Results: The mean age of the research group was 12.72 ± 1.91 years. Unsurprisingly, BMI, glycated hemoglobin (HbA1c), liver transaminases (AST, ALT), total cholesterol, triglyceride, low-density lipoprotein cholesterol (LDL), homeostatic model assessment for insulin resistance (HOMA-IR), and insulin rates were noticeably elevated in obese adolescents compared to controls (P < 0.05). However, omentin-1 and high-density lipoprotein cholesterol (HDL) levels were remarkably lower in the obese group (P < 0.05). No significant difference was found between the NAFLD and non-NAFLD groups regarding omentin-1, HbA1c, glucose, urea, creatinine, AST, C-reactive protein (CRP), total cholesterol, triglyceride, HDL, LDL, thyroid stimulating hormone, 25-hydroxyvitamin D3, HOMA-IR, and insulin. The BMI and ALT grades of the non-NAFLD group were notably lower than the NAFLD group (P < 0.05). While there was no significant difference between omentin-1 and other parameters in obese adolescents without NAFLD (P > 0.05), we found a significant difference between omentin-1 and BMI, AST, ALT, HOMA-IR, and insulin values in obese adolescents with NAFLD (P < 0.05). Conclusions: Omentin-1 levels were decreased in obese adolescents regardless of the presence of NAFLD. However, in obese patients with NAFLD, there was a significant difference between omentin-1 and several markers of obesity and insulin resistance.
Kosar Asna Ashari, Mohamedreza Abdosalehi, Fatemeh Tahghighi
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.117882

Abstract:
: We presented a 5-year-old boy with fever, limping, and hip pain for six days. There was no abnormal past medical history. He kept his left leg immobile and slightly flexed, and externally rotated in the hip joint. Laboratory findings showed leukocytosis and elevated ESR and CRP. Hip sonography was normal. Hip magnetic resonance imaging (MRI) found no joint effusion but elucidated signs of inflammation in muscles of the periarticular and proximal femoral area (iliopsoas and gluteus maximus), and no collection could be noticed. We provided a thorough discussion on differential diagnoses and approaches to the patient.
Muhittin Celik, Osman Akdeniz
Iranian Journal of Pediatrics; https://doi.org/10.5812/ijp.116777

Abstract:
Background: Nonketotic hyperglycinemia (NKH) is a rare metabolism disorder with autosomal recessive transmission. Newborn infants characteristically present with hypotonia, lethargy, convulsions, and apnea and are generally lost within the first year of life. Objectives: The aim of this study was to evaluate the clinical characteristics, laboratory findings, and short-term results of infants diagnosed with NKH. Methods: The retrospective study included 10 infants diagnosed with NKH between August 2013 and July 2020. The clinical characteristics, laboratory findings, treatment methods, and short-term outcomes of the patients were evaluated. Results: The age range of patients (50% males vs. 50% females) was 2 - 8 days on presentation. The complaints on presentation were decreased breastfeeding, lethargy, convulsions, hiccups, apnea, and respiratory problems. In the physical examination, significant hypotonia and reduced or absence of newborn reflexes were predominant. Mechanical ventilation (MV) was required for nine patients. The cerebral spinal fluid/serum glycine ratio was > 0.08 in all patients, with median value of 0.19 (range: 0.12 - 0.30). The presence of a burst suppression pattern on electroencephalography and an increase in the glycine peak in magnetic resonance spectroscopy were the supportive diagnostic findings. Mutation analysis was performed on one patient. Seizures resistant to treatment were controlled with levetiracetam in three patients and dextromethorphan in one patient. Conclusions: According to the results, the most common clinical findings in NKH were severe hypotonia, seizure, and encephalopathy. In some cases, with resistant seizures, levetiracetam was found to be effective.
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