Iranian Journal of Pediatrics
Volume:31 Issue: 5, Oct 2021

The optimal timing of surgery for left-sided mild-to-moderate congenital diaphragmatic hernia (CDH) remains unknown.

To determine the optimal timing of surgery for left-sided mild-to-moderate CDH.

Thirty newborns were randomly divided into emergency (EAR) and delayed (DEL) surgery groups. Thoracoscopic repair of CDH was performed within 48 hours after birth in the EAR group and then in the DEL group. Next, the baseline data, primary and secondary endpoints, and adverse reactions were assessed.

Differences between the two groups were not significant in terms of the measured lung-to-head ratio (LHR), preoperative pulmonary artery hypertension (PAH)-free/mild PAH ratio, surgery duration, duration of postoperative mechanical ventilation, incidence of postoperative moderate-to-severe PAH, postoperative mortality, and recurrence rate in the follow-up (P > 0.05 for all). Meanwhile, age at surgery (P = 0.001), duration of fasting (P = 0.001), and hospital stay (P = 0.032) were significantly different between the two groups.

Timing of thoracoscopy, performed within 85 hours of birth for left-sided CDH repair, does not affect the therapeutic outcomes of children with left-sided mild-to-moderate CDH.

Necrotizing enterocolitis (NEC) is a common life-threatening disease in very low birth-weight (VLBW) infants. Probiotic prophylaxis is often used in the VLBW infants as a protective factor.

This retrospective study assessed risk factors of NEC and observed the effect of probiotic prophylaxis duration on NEC.

The study encompassed 237 VLBW neonates admitted to the NICU of the First Affiliated Hospital of the Anhui Medical University, Anhui Province, who received probiotic prophylaxis. In this study, the participants’ clinical characteristics, treatments, and outcomes were compared between the NEC (n = 19) and non-NEC (n = 218) groups. Moreover, factors associated with NEC were analyzed by logistic regression, and the probiotic prophylaxis duration was analyzed by receiver operating characteristic (ROC) curves.

As the analysis revealed, 19 (8.02%) neonates were suffering from NEC. The probiotic prophylaxis duration (OR = 0.693, 95% CI = 0.574 - 0.836) was associated with the risk of NEC after adjusting for gestational age, duration of empirical antibiotic use, RBC transfusion, and late-onset sepsis. For the probiotic prophylaxis duration, the areas under curve was 0.870, the ideal cutoff was 10.5 days, and the sensitivity and specificity were 0.844 and 0.895, respectively.

Probiotic prophylaxis was associated with the decreased risk of NEC. The findings revealed that an effective duration of use might be more than 10.5 days of probiotic prophylaxis application.

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.

We aimed to evaluate the omentin-1 levels in the sera of obese adolescents with and without NAFLD and compare them with each other.

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.

Themean 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), homeostaticmodel 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).

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.

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.

The aim of this study was to evaluate the clinical characteristics, laboratory findings, and short-term results of infants diagnosed with NKH.

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.

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 inmagnetic 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.

According to the results, themost common clinical findings in NKH were severe hypotonia, seizure, and encephalopathy. In some cases, with resistant seizures, levetiracetam was found to be effective.

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.

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.

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.

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.

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.

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.

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).

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.

The authors are hopeful that the obtained data will help develop a better device for the percutaneous transcatheter closure of PDA.

Progressive familial intrahepatic cholestasis is a disease presenting with severe cholestasis and progressing to the end-stage liver disease later. Liver transplantation is a treatmentmodality 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.

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.

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.

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 macrovesicular steatosis alone, and 10 (20%) had steatohepatitis. Only one patient showed moderate bridging fibrosis (stage III), and none of them showed severe fibrosis.

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.

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.

This study aimed to investigate the risk factors affecting the incidence of congenital anomalies in infants born in Iran.

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 congenitalmalformations were investigated by logistic regression using SPSS-26 software. The significance level of all tests was 0.05.

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.

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.

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.

The purpose of this study was to analyze the relationship between mitochondrial tRNA (mt-tRNA) variants and high myopia (HM).

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.

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.

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.

Hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia that is the result of faulty ectodermal development leading to such ectodermal defects as hypotrichosis, anodontia or hypodontia, and hypohidrosis or anhidrosis. Xlinked HED is caused by mutations in ectodysplasin A (EDA) gene and accounts for 90% of all HED cases. Autosomal HED is caused by mutations in other involved genes, such as EDA-receptor (EDAR) gene. In this study, we included two distinct families with three HED patients. We collected 5 mL of peripheral blood from the probands, associated parents, and 120 matched unrelated controls (from related ethnicity) without any ectodermal disorder. DNA was extracted using the routine salting-out protocol from blood leukocytes. Polymerase chain reaction (PCR) purification and bidirectional Sanger sequencing of the PCR products were performed. We identified p.R156H (c.467 G > A) mutation in EDA gene in two affected brothers and their carrier mother (family 1) and a novel missense mutation c.1210G > A (p.A404T) in EDAR gene in a 4-year-old affected boy and his heterogeneous parents (family 2). Clinical evaluation, genetic findings, and bioinformatic analysis supported deleterious effects of both identified mutations on the EDA and EDAR gene products, which should be considered in genetic assessment of HED cases in Southwest of Iran.

Severe and critical Hand-Foot-and-Mouth Disease (HFMD) patients have an acute onset and poor prognosis. This study intended to establish an appropriate risk prediction model by analyzing the blood biochemical indicators of patients.

A total of 3,204 patients with HFMD were enrolled in this study, including 2,131 mild patients, 962 severe patients, and 111 critical patients. We first analyzed the data of each group through multivariate statistics based on SIMCA-P and screened out the variables that had important contributions to the discrimination of each group. Furthermore, the risk factors and predictors were screened out by comparison with the results of univariate statistical analysis. Finally, binary logistic regression analysis was used to establish a suitable prediction model.

With the aggravation of HFMD patients’ conditions, the blood content and risk warning ability of seven indicators of SP, DP, NEUT%, TP, GLB, RBP, and Glu were significantly increased. We found for the first time that the more severe the HFMD patients, the lower the levels of Chr, %MRETIC, and %HRETIC in their blood. The average prediction accuracy of the established models for Mild/Severe, Severe/Critical, and Severe/Critical was 82.89, 96.16, and 89.37%, respectively, and the AUROC was 0.8722 (95%CI, 0.8583 - 0.8861), 0.9499 (95%CI, 0.9339 - 0.9659), and 0.7913 (95% CI, 0.7471 - 0.8356), respectively.

Multivariate statistical analysis based on SIMCA-P could be used to analyze the clinical data of HFMD patients. Besides, SP, DP, NEUT%, TP, GLB, RBP, and Glu could be used as risk factors for severe and critical HFMD patients. The abnormal changes of Chr, %MRETIC, and %HRETIC reflected the possible damage to bone marrow hematopoietic function in HFMD patients. The predictive model established by us could be used for the differential diagnosis of Mild/Severe, Mild/Critical, and Severe/Critical.

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.