Qionghua Chen, Jingyang Zheng, lie Zeng, Liduan Su, Chunyan Lin, Dongyi Pan
Background: Primary ciliary dyskinesia (PCD) is considered a monogenic heterogeneous recessive disorder. Objectives: This study aimed to identify clinical characteristics and gene mutations in children with PCD admitted to Quanzhou Women’s and Children’s hospital in China from January 2019 to January 2022. Methods: Clinical manifestations, lung imaging, transmission electron microscopy (TEM) findings, and genetic test results were analyzed in this study. Results: For 8 patients, PCD manifestations included asthma, total visceral inversion, secretory otitis media, adenoid hypertrophy, gastroesophageal reflux, intestinal malrotation with midgut torsion, and bronchiectasis. Primary ciliary dyskinesia-associated gene variants included DNAH11, DNAH5, RSPH4A, and CFAP300. Novel variants of DNAH11 (c.5460 + 5G > C, c.117499_11752delGTTA, and c.5822G > C), DNAH5 (c.4314delT and c.877dupA), RSPH4A (c.1774_1775delTT and c.1949A > G), and CFAP300 (c.603delG) were found in these children. Conclusions: Recurrent cough, expectoration, purulent discharge, bronchiectasis, and visceral inversion provide clues for diagnosing early-onset PCD. Transmission electron microscopy and genetic testing improve early diagnosis, treatment delivery, and prognosis. Novel genotypes identified in this study expand the PCD genotypic spectrum.
{"title":"Analysis of Clinical Characteristics and Gene Variants Associated with Primary Ciliary Dyskinesia","authors":"Qionghua Chen, Jingyang Zheng, lie Zeng, Liduan Su, Chunyan Lin, Dongyi Pan","doi":"10.5812/ijp-132964","DOIUrl":"https://doi.org/10.5812/ijp-132964","url":null,"abstract":"Background: Primary ciliary dyskinesia (PCD) is considered a monogenic heterogeneous recessive disorder. Objectives: This study aimed to identify clinical characteristics and gene mutations in children with PCD admitted to Quanzhou Women’s and Children’s hospital in China from January 2019 to January 2022. Methods: Clinical manifestations, lung imaging, transmission electron microscopy (TEM) findings, and genetic test results were analyzed in this study. Results: For 8 patients, PCD manifestations included asthma, total visceral inversion, secretory otitis media, adenoid hypertrophy, gastroesophageal reflux, intestinal malrotation with midgut torsion, and bronchiectasis. Primary ciliary dyskinesia-associated gene variants included DNAH11, DNAH5, RSPH4A, and CFAP300. Novel variants of DNAH11 (c.5460 + 5G > C, c.117499_11752delGTTA, and c.5822G > C), DNAH5 (c.4314delT and c.877dupA), RSPH4A (c.1774_1775delTT and c.1949A > G), and CFAP300 (c.603delG) were found in these children. Conclusions: Recurrent cough, expectoration, purulent discharge, bronchiectasis, and visceral inversion provide clues for diagnosing early-onset PCD. Transmission electron microscopy and genetic testing improve early diagnosis, treatment delivery, and prognosis. Novel genotypes identified in this study expand the PCD genotypic spectrum.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135198839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values. Objectives: The present study aimed to investigate the normal NCS values in children of different ages. Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children's Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 - 2 years, 2 - 4 years, 4 - 6 years, and 6 - 14 years), and the NCS was performed using a Nihon Kohden electromyogram. The NCS values in the normal range were included in the analysis. Results: The normal ranges of amplitude and conduction velocity of 4 motor nerves (median, ulnar, deep peroneal, and tibial) and 2 sensory nerves (median and medial plantar), as well as the F-wave latency values of 2 nerves (ulnar and tibial), were established as the reference values for the pediatric patients. Conclusions: The NCS parameters of Iranian children were slightly different from the normal references reported by studies in other countries. Moreover, the SNAP and CMAP amplitudes and motor conduction velocity of these children usually reached the normal values of the adult population earlier.
{"title":"Normal Values of Nerve Conduction Studies in Children Aged 7 Days to 14 Years Referred to Electrodiagnosis Clinic of Iranian Children's Medical Center","authors":"Masood Ghahvechi Akbari, Fazel Mahmoodpoor, MahmoodReza Ashrafi, Elahe Rezaee, Sahar Ghorbanpour, Seyede Zahra Emami Razavi, Mohaddeseh Azadvari, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Morteza Heidari, Zahra Rezaei, Setareh Rohani, Mahmoud Mohammadi","doi":"10.5812/ijp-137205","DOIUrl":"https://doi.org/10.5812/ijp-137205","url":null,"abstract":"Background: The normal values of nerve conduction studies (NCS) are different in children compared to adults. Moreover, racial and geographical factors can affect these values. Objectives: The present study aimed to investigate the normal NCS values in children of different ages. Methods: The present cross-sectional study included children referred to the Electrodiagnosis Clinic of the Children's Medical Center in Iran, who had normal NCS results based on the references and had no exclusion criteria. The patients were divided into 8 age groups (7 days to one month, 1 - 3 months, 3 - 6 months, 6 - 12 months, 1 - 2 years, 2 - 4 years, 4 - 6 years, and 6 - 14 years), and the NCS was performed using a Nihon Kohden electromyogram. The NCS values in the normal range were included in the analysis. Results: The normal ranges of amplitude and conduction velocity of 4 motor nerves (median, ulnar, deep peroneal, and tibial) and 2 sensory nerves (median and medial plantar), as well as the F-wave latency values of 2 nerves (ulnar and tibial), were established as the reference values for the pediatric patients. Conclusions: The NCS parameters of Iranian children were slightly different from the normal references reported by studies in other countries. Moreover, the SNAP and CMAP amplitudes and motor conduction velocity of these children usually reached the normal values of the adult population earlier.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Vitamin D deficiency is common in obese adolescents. It modulates the release of omentin 1 from adipose tissue. We believe that both vitamin D and omentin 1 affect each other in adipose tissue via inflammation. Objectives: This study aimed to examine serum omentin-1 levels in obese adolescents with vitamin D (Vit D) deficiency. Methods: In this cross-sectional prospective study, 83 obese adolescents were included. Serum 25-hydroxy vitamin D (25(OH)D) concentrations, fasting glucose, and lipid profiles of obese adolescents were studied. At the same time, blood was drawn into a separate tube to study the omentin 1 level. Of the 83 obese cases, 45 with 25(OH)D concentrations below 20 ng/mL were considered as the study group, and 38 with 25(OH)D concentrations ≥ 20 ng/mL as the control group. Serum omentin-1 levels were evaluated and compared. Results: The average 25(OH)D value in the study and control groups was 17.14 ± 2.22 ng/mL and 45.29 ± 24.98 ng/mL, respectively. The average omentin-1 concentration of the control group was 262.5 ± 136.31 ng/mL, and the mean omentin-1 level of the study group was 113.23 ± 15.98 ng/mL. The mean omentin-1 concentrations of the study group were significantly lower compared to the control group (P = 0.0001). There was a significant and positive correlation between omentin-1 and 25(OH)D (r = 0.988 P = 0.0001). In univariate tests, linear regression analysis was carried out with 25(OH)D and omentin-1, and 25(OH)D displayed a significant positive correlation (P = 0.0001). The optimal cut-off point for the serum omentin-1 concentration was 135.01 ng/mL. No significant correlation was determined between omentin-1 and body mass index, lipid profile, glucose, and insulin variables (P > 0.05). Conclusions: We showed significantly low concentrations of serum omentin-1 in obese adolescents with vitamin D deficiency. Serum omentin-1 can be employed as a biomarker in obese adolescents with vitamin D deficiency.
{"title":"Serum Omentin-1 Levels in Obese Adolescents with Vitamin D Deficiency: A Prospective Cross-Sectional Study","authors":"Meltem Erol, Fatih Karan, Abdulrahman Ozel, Ozlem Bostan Gayret, Oguzhan Zengi","doi":"10.5812/ijp-137958","DOIUrl":"https://doi.org/10.5812/ijp-137958","url":null,"abstract":"Background: Vitamin D deficiency is common in obese adolescents. It modulates the release of omentin 1 from adipose tissue. We believe that both vitamin D and omentin 1 affect each other in adipose tissue via inflammation. Objectives: This study aimed to examine serum omentin-1 levels in obese adolescents with vitamin D (Vit D) deficiency. Methods: In this cross-sectional prospective study, 83 obese adolescents were included. Serum 25-hydroxy vitamin D (25(OH)D) concentrations, fasting glucose, and lipid profiles of obese adolescents were studied. At the same time, blood was drawn into a separate tube to study the omentin 1 level. Of the 83 obese cases, 45 with 25(OH)D concentrations below 20 ng/mL were considered as the study group, and 38 with 25(OH)D concentrations ≥ 20 ng/mL as the control group. Serum omentin-1 levels were evaluated and compared. Results: The average 25(OH)D value in the study and control groups was 17.14 ± 2.22 ng/mL and 45.29 ± 24.98 ng/mL, respectively. The average omentin-1 concentration of the control group was 262.5 ± 136.31 ng/mL, and the mean omentin-1 level of the study group was 113.23 ± 15.98 ng/mL. The mean omentin-1 concentrations of the study group were significantly lower compared to the control group (P = 0.0001). There was a significant and positive correlation between omentin-1 and 25(OH)D (r = 0.988 P = 0.0001). In univariate tests, linear regression analysis was carried out with 25(OH)D and omentin-1, and 25(OH)D displayed a significant positive correlation (P = 0.0001). The optimal cut-off point for the serum omentin-1 concentration was 135.01 ng/mL. No significant correlation was determined between omentin-1 and body mass index, lipid profile, glucose, and insulin variables (P > 0.05). Conclusions: We showed significantly low concentrations of serum omentin-1 in obese adolescents with vitamin D deficiency. Serum omentin-1 can be employed as a biomarker in obese adolescents with vitamin D deficiency.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197515","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Feeding intolerance is one of the most common problems in very low birth weight infants. Granulocyte colony-stimulating factor (G-CSF), one of the cytokines in amniotic fluid and human milk, plays an important role in gut maturation. Objectives: The aim of this study was to evaluate the effect of oral administration of G-CSF on feeding tolerance in preterm infants weighing ≤ 1200 g. Methods: This randomized, single-blind, placebo-controlled clinical study was conducted between September 2018 and June 2019 on preterm infants (≤ 32 weeks) weighing ≤ 1200 g and matched in terms of gestational age, birth weight, and umbilical cord pH. The intervention group received G-CSF by gavage simultaneously with the start of enteral feeding stopped after 10 days. The primary outcome was the duration of infant milk that reached 50, 75, and 100 mL/kg/day, and the secondary outcomes were the onset of weight gain and the length of hospital stay. Results: Out of 68 eligible infants, 31 infants in each group completed the study. There was no significant difference between the two groups in terms of the length of hospital stay and the duration of reaching a feeding volume of 50 and 75 mL/kg/day; nonetheless, the duration of reaching a feeding volume of 100 mL/kg/day and the time to start gaining weight in the case group were significantly shorter than those of the control group (P = 0.029 and P = 0.002, respectively). Conclusions: The oral administration of G-CSF in preterm infants ≤ 1200 g improves feeding tolerance and can further shorten the time to reach full enteral feeding.
{"title":"Granulocyte Colony-Stimulating Factor (G-CSF): Is It Effective for Feeding Tolerance in Very Low Birth Weight Infants?","authors":"Zahra Akbarian Rad, Elham Farahanian, Mousa Ahmadpour-Kacho, Yadollah Zahedpasha, Soraya Khafri, Zahra Valizadeh-Chari, Mohsen Haghshenas Mojaveri","doi":"10.5812/ijp-139592","DOIUrl":"https://doi.org/10.5812/ijp-139592","url":null,"abstract":"Background: Feeding intolerance is one of the most common problems in very low birth weight infants. Granulocyte colony-stimulating factor (G-CSF), one of the cytokines in amniotic fluid and human milk, plays an important role in gut maturation. Objectives: The aim of this study was to evaluate the effect of oral administration of G-CSF on feeding tolerance in preterm infants weighing ≤ 1200 g. Methods: This randomized, single-blind, placebo-controlled clinical study was conducted between September 2018 and June 2019 on preterm infants (≤ 32 weeks) weighing ≤ 1200 g and matched in terms of gestational age, birth weight, and umbilical cord pH. The intervention group received G-CSF by gavage simultaneously with the start of enteral feeding stopped after 10 days. The primary outcome was the duration of infant milk that reached 50, 75, and 100 mL/kg/day, and the secondary outcomes were the onset of weight gain and the length of hospital stay. Results: Out of 68 eligible infants, 31 infants in each group completed the study. There was no significant difference between the two groups in terms of the length of hospital stay and the duration of reaching a feeding volume of 50 and 75 mL/kg/day; nonetheless, the duration of reaching a feeding volume of 100 mL/kg/day and the time to start gaining weight in the case group were significantly shorter than those of the control group (P = 0.029 and P = 0.002, respectively). Conclusions: The oral administration of G-CSF in preterm infants ≤ 1200 g improves feeding tolerance and can further shorten the time to reach full enteral feeding.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135197680","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Abdurrahman Akgun, Bora Ergin, Huseyin Bilgin, Serdar Ceylaner
Introduction: Mucopolysaccharidosis-II (MPSII) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. Detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase (IDS) gene confirms the diagnosis in a male proband. Case Presentation: We report a five-year-old boy with MPSII in whom no mutation was detected in the IDS gene by next-generation sequencing (Miseq-Illumina) covering the coding regions of the gene. Therefore, we tried to detect the mutation in the IDS gene using RNA sequencing that has recently been used. Conclusions: In some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. In these cases, we emphasize that mutations should be investigated using other methods, including RNA sequencing.
简介:粘多糖病- ii (MPSII)是一种基于伊杜醛酸2-硫酸酯酶活性缺乏的诊断。检测到一种半合子致病性变异的伊杜醛酸2-硫酸酯酶(IDS)基因确认诊断在男性先证。病例介绍:我们报告了一名患有MPSII的五岁男孩，通过下一代测序(Miseq-Illumina)覆盖该基因的编码区，未检测到IDS基因突变。因此，我们尝试使用最近使用的RNA测序来检测IDS基因的突变。结论:在一些通过临床和生化方法诊断的疾病中，即使采用先进的遗传方法，如下一代测序，也无法检测到突变。在这些情况下，我们强调应该使用其他方法来研究突变，包括RNA测序。
{"title":"New Genetic Analysis in Cases with Hunter Syndrome in Whom IDS Gene Mutations Could Not Be Detected: RNA Sequencing","authors":"Abdurrahman Akgun, Bora Ergin, Huseyin Bilgin, Serdar Ceylaner","doi":"10.5812/ijp-138217","DOIUrl":"https://doi.org/10.5812/ijp-138217","url":null,"abstract":"Introduction: Mucopolysaccharidosis-II (MPSII) is diagnosed based on a deficiency in iduronate 2-sulfatase enzyme activity. Detection of a hemizygous pathogenic variant in the iduronate 2-sulfatase (IDS) gene confirms the diagnosis in a male proband. Case Presentation: We report a five-year-old boy with MPSII in whom no mutation was detected in the IDS gene by next-generation sequencing (Miseq-Illumina) covering the coding regions of the gene. Therefore, we tried to detect the mutation in the IDS gene using RNA sequencing that has recently been used. Conclusions: In some diseases diagnosed by clinical and biochemical methods, mutations cannot be detected even with advanced genetic methods, such as next-generation sequencing. In these cases, we emphasize that mutations should be investigated using other methods, including RNA sequencing.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135859805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: More and more children are undergoing liver transplantation and reaching adolescence, even though they must take immunosuppressant drugs for their entire lives. Objectives: This study aimed to determine the non-adherence rate in liver transplant recipients and identify its potential etiologies. Methods: A cross-sectional survey was performed to assay medication adherence among pediatric liver transplant recipients in Shiraz, Iran. The patients' demographic, socioeconomic, and clinical characteristics were collected via interviews. Medication adherence was assessed using a validated Morisky 8-item Medication Adherence Questionnaire (MMAS-8). Results: A total of 157 patients with a mean age of 12.73 ± 4.02 participated in this study. Based on the Morisky adherence scores, 12.1% (n = 19), 25.5% (n = 40), and 62.4% (n = 98) were categorized as low, moderate, and high adherence groups, respectively. Among all studied variables, and follow-up time after transplant were significantly associated with adherence among children after liver transplantation in Iran. Conclusions: The rate and reported causes of non-adherence are similar to those found in previous studies, which is quite remarkable. Proper instruction, financial aid, and recruitment of new technologies are among the strategies to overcome non-adherence.
{"title":"Medication Non-Adherence Among Pediatric Liver Transplant Recipients","authors":"Alireza Shamsaeefar, Nasrin Motazedian, Mehrab Sayadi, Amirali Mashhadiagha, Azar Kazemi, Seyed Mohsen Dehghani, Farsad Afshinnia, Kourosh Kazemi, Seyed Ali Malekhosseini","doi":"10.5812/ijp-134365","DOIUrl":"https://doi.org/10.5812/ijp-134365","url":null,"abstract":"Background: More and more children are undergoing liver transplantation and reaching adolescence, even though they must take immunosuppressant drugs for their entire lives. Objectives: This study aimed to determine the non-adherence rate in liver transplant recipients and identify its potential etiologies. Methods: A cross-sectional survey was performed to assay medication adherence among pediatric liver transplant recipients in Shiraz, Iran. The patients' demographic, socioeconomic, and clinical characteristics were collected via interviews. Medication adherence was assessed using a validated Morisky 8-item Medication Adherence Questionnaire (MMAS-8). Results: A total of 157 patients with a mean age of 12.73 ± 4.02 participated in this study. Based on the Morisky adherence scores, 12.1% (n = 19), 25.5% (n = 40), and 62.4% (n = 98) were categorized as low, moderate, and high adherence groups, respectively. Among all studied variables, and follow-up time after transplant were significantly associated with adherence among children after liver transplantation in Iran. Conclusions: The rate and reported causes of non-adherence are similar to those found in previous studies, which is quite remarkable. Proper instruction, financial aid, and recruitment of new technologies are among the strategies to overcome non-adherence.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135306090","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Mohammadreza Edraki, Majid Farrokifar, Hamid Amoozgar, Nima Mehdizadegan, Hamid Mohammadi, Amir Naghshzan, Elahe Nirooie
Background: Conduction disturbance (CD) is a major complication of percutaneous closure of the perimembranous ventricular septal defect (pmVSD). Objectives: This study aimed to investigate the incidence, predisposing factors, and outcomes of sustained CD following percutaneous closure of these defects. Methods: All patients whose pmVSD was closed successfully with percutaneous methods within April 2016 to April 2021 were enrolled in this cohort study. The defects’ size, septal aneurysms, and distance to the aortic valve annulus were determined with transthoracic echocardiography and catheterization. Continuous heart monitoring was performed during the procedures and one hour after, and standard 12-lead electrocardiograms were obtained regularly to determine any CD and arrhythmias. Results: A total of 260 patients who had successful pmVSD closure were enrolled in the study. In this study, 135 (52%) and 125 (48%) patients were male and female, respectively. The mean age of the patients was 75.66 ± 68.89 months. The patients’ median follow-up was 36 months (range: 9-210 months). Thirty-one patients (11.9%) developed sustained CD, and 25 cases recovered to normal conduction. Additionally, 7 patients (2.7%) had several permanent conduction abnormalities, including four right bundle branch blocks, two left bundle branch blocks, and one bi-fascicular block. No one had a permanent atrioventricular block. Closure of non-aneurysmal defects and more prolonged procedures were independent risk factors of CD. Using Amplatzer duct occluder type II was associated with less incidence of conduction abnormalities. Conclusions: The incidence of sustained CD after transcatheter closure was relatively high; however, most cases recovered to normal conduction. The use of softer devices and the placement of devices into the septal aneurysms might lower the risk of CD.
{"title":"Incidence, Risk Factors, and Outcomes of Conduction Disturbances After Percutaneous Closure of Perimembranous Ventricular Septal Defects in Children and Adolescents: A Mid-Term Follow-up","authors":"Mohammadreza Edraki, Majid Farrokifar, Hamid Amoozgar, Nima Mehdizadegan, Hamid Mohammadi, Amir Naghshzan, Elahe Nirooie","doi":"10.5812/ijp-135528","DOIUrl":"https://doi.org/10.5812/ijp-135528","url":null,"abstract":"Background: Conduction disturbance (CD) is a major complication of percutaneous closure of the perimembranous ventricular septal defect (pmVSD). Objectives: This study aimed to investigate the incidence, predisposing factors, and outcomes of sustained CD following percutaneous closure of these defects. Methods: All patients whose pmVSD was closed successfully with percutaneous methods within April 2016 to April 2021 were enrolled in this cohort study. The defects’ size, septal aneurysms, and distance to the aortic valve annulus were determined with transthoracic echocardiography and catheterization. Continuous heart monitoring was performed during the procedures and one hour after, and standard 12-lead electrocardiograms were obtained regularly to determine any CD and arrhythmias. Results: A total of 260 patients who had successful pmVSD closure were enrolled in the study. In this study, 135 (52%) and 125 (48%) patients were male and female, respectively. The mean age of the patients was 75.66 ± 68.89 months. The patients’ median follow-up was 36 months (range: 9-210 months). Thirty-one patients (11.9%) developed sustained CD, and 25 cases recovered to normal conduction. Additionally, 7 patients (2.7%) had several permanent conduction abnormalities, including four right bundle branch blocks, two left bundle branch blocks, and one bi-fascicular block. No one had a permanent atrioventricular block. Closure of non-aneurysmal defects and more prolonged procedures were independent risk factors of CD. Using Amplatzer duct occluder type II was associated with less incidence of conduction abnormalities. Conclusions: The incidence of sustained CD after transcatheter closure was relatively high; however, most cases recovered to normal conduction. The use of softer devices and the placement of devices into the septal aneurysms might lower the risk of CD.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135435043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Spastic hemiparetic cerebral palsy (CP) occurs due to damage to the hemisphere of the brain responsible for controlling movement. Objectives: This study aims to propose a novel bimanual training approach utilizing a specific computer game to improve hand movement function and enhance working memory in children with hemiparetic CP. Methods: Five children with hemiparetic CP participated in a 15-session intervention three times a week, each lasting 30 minutes, incorporating bimanual training through a computer game. The Fugl-Meyer Assessment (FMA-UE) and the Corsi block-tapping test evaluated sensorimotor and cognitive abilities. Statistical analyses were conducted using SPSS software. Results: The mean FMA-UE score before and after the intervention was 51 ± 3.31 and 59.5 ± 1.14, respectively, indicating a statistically significant difference (P = 0.008) and an increase in total upper extremity motor function score. Additionally, the mean Corsi block-tapping test score for memory span before and after the intervention was 2.3 ± 0.84 and 3.1 ± 1.14, respectively, demonstrating improved cognitive ability. Conclusions: The combination of bimanual hand training and video games has been shown to be effective in enhancing motor-cognitive abilities in children with hemiparetic CP.
{"title":"A New Training Protocol Based on Bimanual Playing a Computer Game for Motion-Cognitive Rehabilitation in Children with Spastic Hemiparetic Cerebral Palsy","authors":"Parisa Hosseini, Ehsan Tahami, Afsaneh Zeinalzadeh, Narges Hashemi, Mehran Beiraghi Toosi, Javad Akhondian Yazdi, Hamid Reza Kobravi","doi":"10.5812/ijp-136889","DOIUrl":"https://doi.org/10.5812/ijp-136889","url":null,"abstract":"Background: Spastic hemiparetic cerebral palsy (CP) occurs due to damage to the hemisphere of the brain responsible for controlling movement. Objectives: This study aims to propose a novel bimanual training approach utilizing a specific computer game to improve hand movement function and enhance working memory in children with hemiparetic CP. Methods: Five children with hemiparetic CP participated in a 15-session intervention three times a week, each lasting 30 minutes, incorporating bimanual training through a computer game. The Fugl-Meyer Assessment (FMA-UE) and the Corsi block-tapping test evaluated sensorimotor and cognitive abilities. Statistical analyses were conducted using SPSS software. Results: The mean FMA-UE score before and after the intervention was 51 ± 3.31 and 59.5 ± 1.14, respectively, indicating a statistically significant difference (P = 0.008) and an increase in total upper extremity motor function score. Additionally, the mean Corsi block-tapping test score for memory span before and after the intervention was 2.3 ± 0.84 and 3.1 ± 1.14, respectively, demonstrating improved cognitive ability. Conclusions: The combination of bimanual hand training and video games has been shown to be effective in enhancing motor-cognitive abilities in children with hemiparetic CP.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135396539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
K. Mirnia, M. Saeedi, Razieh Sangsari, Fatemeh Mokhtarian Zavareh, Vahideh Mirnia, N. Rezaei
Background: Most cases of newborn hyperbilirubinemia are physiologic; however, excessive unconjugated bilirubin is a potential neurotoxin. Phototherapy treats moderate to severe hyperbilirubinemia in addition to severe jaundice. If phototherapy increases immunoglobulin G (IgG) clearance, there is a chance of humoral immune disorders. Objectives: The purpose of the study was to investigate the effect of phototherapy on the level of IgG in neonates. Methods: This study investigated 40 full-term newborns with hyperbilirubinemia. Blood samples were taken before and 72 hours after phototherapy. The IgG level was measured by calorimetry tests. Results: Phototherapy resulted in a decrease in IgG levels. The IgG level significantly decreased from 833.135 to 720.185 mg/dL. Before phototherapy, 12.5% of the population had low IgG levels; however, 32.5% had low IgG levels after the treatment. Conclusions: According to the results of the study, intensive phototherapy caused a reduction in IgG levels. Since there was no significant decrease in IgG levels in neonates who received conventional phototherapy, it can be concluded that this treatment is safe in terms of IgG levels.
{"title":"Immunoglobulin G Levels in Neonates After Receiving Phototherapy","authors":"K. Mirnia, M. Saeedi, Razieh Sangsari, Fatemeh Mokhtarian Zavareh, Vahideh Mirnia, N. Rezaei","doi":"10.5812/ijp-134810","DOIUrl":"https://doi.org/10.5812/ijp-134810","url":null,"abstract":"Background: Most cases of newborn hyperbilirubinemia are physiologic; however, excessive unconjugated bilirubin is a potential neurotoxin. Phototherapy treats moderate to severe hyperbilirubinemia in addition to severe jaundice. If phototherapy increases immunoglobulin G (IgG) clearance, there is a chance of humoral immune disorders. Objectives: The purpose of the study was to investigate the effect of phototherapy on the level of IgG in neonates. Methods: This study investigated 40 full-term newborns with hyperbilirubinemia. Blood samples were taken before and 72 hours after phototherapy. The IgG level was measured by calorimetry tests. Results: Phototherapy resulted in a decrease in IgG levels. The IgG level significantly decreased from 833.135 to 720.185 mg/dL. Before phototherapy, 12.5% of the population had low IgG levels; however, 32.5% had low IgG levels after the treatment. Conclusions: According to the results of the study, intensive phototherapy caused a reduction in IgG levels. Since there was no significant decrease in IgG levels in neonates who received conventional phototherapy, it can be concluded that this treatment is safe in terms of IgG levels.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76911582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: While severe hypoxia is known to contribute to neurotoxicity and lead to abnormal behavior, mild hypoxia may have beneficial effects mediated through endogenous adaptive responses. Objectives: The present study aimed to investigate the effects of mild hypoxia postconditioning and long-term neurobehavioral ability rehabilitation after hypoxic-ischemic brain damage (HIBD). Methods: Seven-day-old rats underwent left carotid ligation followed by 2 hours of hypoxia stress. Rats received different protocols of mild hypoxia postconditioning for 5 days and underwent neurobehavioral testing during the last week of the study. Hypoxia-inducible factor 1 alpha (HIF-1a) expression was assessed, and neurobehavioral ability assays were performed. Results: Compared with the HIBD group, rats postconditioning with mild hypoxia showed increased HIF-1a expression, and their brain functions were better in neurobehavioral analyses. The rehabilitation of brain functions may be associated with high HIF-1a expression and better behavioral performance. Conclusions: Our findings indicate that mild hypoxia postconditioning improves neurobehavioral ability, and HIF-1a may be a potential mediator of the observed effects. Our findings suggest that there may be clinical implications for treating infants with HIBD.
{"title":"Mild Hypoxia Postconditioning Induces Hypoxia-Inducible Factor 1 Alpha Expression and Improves the Neurobehavioral Abilities of Rats with Hypoxic-Ischemic Brain Damage","authors":"Qingqing Deng, Yanqun Chang, Xiao-min Cheng, Yan Li, Xingang Luo, Xiaoyuan Tang","doi":"10.5812/ijp-135268","DOIUrl":"https://doi.org/10.5812/ijp-135268","url":null,"abstract":"Background: While severe hypoxia is known to contribute to neurotoxicity and lead to abnormal behavior, mild hypoxia may have beneficial effects mediated through endogenous adaptive responses. Objectives: The present study aimed to investigate the effects of mild hypoxia postconditioning and long-term neurobehavioral ability rehabilitation after hypoxic-ischemic brain damage (HIBD). Methods: Seven-day-old rats underwent left carotid ligation followed by 2 hours of hypoxia stress. Rats received different protocols of mild hypoxia postconditioning for 5 days and underwent neurobehavioral testing during the last week of the study. Hypoxia-inducible factor 1 alpha (HIF-1a) expression was assessed, and neurobehavioral ability assays were performed. Results: Compared with the HIBD group, rats postconditioning with mild hypoxia showed increased HIF-1a expression, and their brain functions were better in neurobehavioral analyses. The rehabilitation of brain functions may be associated with high HIF-1a expression and better behavioral performance. Conclusions: Our findings indicate that mild hypoxia postconditioning improves neurobehavioral ability, and HIF-1a may be a potential mediator of the observed effects. Our findings suggest that there may be clinical implications for treating infants with HIBD.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2023-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79691352","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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