Background: The coexistence of a metabolic or genetic disease can complicate the course of an atrial septal defect device closure. Methods: The database of our hospital was searched for patients who had undergone atrial septal defect (ASD) device closure and had concurrent metabolic and genetic diseases. Out of 188 such patients, 11 were identified. Results: This cohort study included 11 patients with type 1 diabetes mellitus, insulin resistance, mitochondrial diseases, rickets, Seckel syndrome, Alagille syndrome, cystic fibrosis, Down syndrome, and Crigler-Najjar syndrome type II. The patients were followed for a median of 4 years. Two patients experienced thromboembolic events. One procedure failed as the device was embolized. Large devices with a waist circumference greater than 1.5 times the body weight were used in 3 patients. One patient died 19 days after the procedure due to multi-organ failure, which was not related to device closure. Conclusions: In patients with metabolic or genetic diseases, this procedure may be complicated by factors such as small patient size, hypercoagulation, organ failure (cardiac, renal, or hepatic), vascular abnormalities, and issues with anesthesia or transesophageal echocardiography. It is recommended that careful attention be given to the specific challenges associated with each disease. The utilization of large devices can be considered safe, particularly in patients beyond 4 years of age.
{"title":"Atrial Septal Defect Device Closure in Patients with Metabolic or Genetic Diseases","authors":"Keyhan Sayadpour Zanjani, Morteza Heidari, Nima Nazari, Hosein Alimadadi, Reihaneh Mohsenipour","doi":"10.5812/ijp-137508","DOIUrl":"https://doi.org/10.5812/ijp-137508","url":null,"abstract":"Background: The coexistence of a metabolic or genetic disease can complicate the course of an atrial septal defect device closure. Methods: The database of our hospital was searched for patients who had undergone atrial septal defect (ASD) device closure and had concurrent metabolic and genetic diseases. Out of 188 such patients, 11 were identified. Results: This cohort study included 11 patients with type 1 diabetes mellitus, insulin resistance, mitochondrial diseases, rickets, Seckel syndrome, Alagille syndrome, cystic fibrosis, Down syndrome, and Crigler-Najjar syndrome type II. The patients were followed for a median of 4 years. Two patients experienced thromboembolic events. One procedure failed as the device was embolized. Large devices with a waist circumference greater than 1.5 times the body weight were used in 3 patients. One patient died 19 days after the procedure due to multi-organ failure, which was not related to device closure. Conclusions: In patients with metabolic or genetic diseases, this procedure may be complicated by factors such as small patient size, hypercoagulation, organ failure (cardiac, renal, or hepatic), vascular abnormalities, and issues with anesthesia or transesophageal echocardiography. It is recommended that careful attention be given to the specific challenges associated with each disease. The utilization of large devices can be considered safe, particularly in patients beyond 4 years of age.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"36 12","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138600814","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}
T. Yuniati, V. Permatagalih, F. Suryaningrat, Kurnia Wahyudi, F. Kadi, Aris Primadi, A. Sukadi
Background: Respiratory distress is the most often encountered problem in preterm infants and the most frequently encountered reason for neonatal intensive care unit (NICU) admission. It can develop into respiratory failure and cause high morbidity and mortality. Noninvasive respiratory support, such as nasal continuous positive airway pressure (NCPAP), was the first line for neonates with respiratory distress. The progression of respiratory distress to respiratory failure in neonates with NCPAP (NCPAP failure) increases the need for mechanical ventilation on the first day of life. With limited resources, clinical observation is critical to predict prognosis and golden time for referral. Downes scores are the accurate and easiest measurement that is used to determine the severity and monitoring of respiratory distress in neonates. However, in Indonesia, there has still been no study that showed an effect of the increment of Downes score in 24 hours and the risk of NCPAP failure. Objectives: This study aimed to measure the association of Downes score at birth, ages 2, 6, 12, and 24 hours, and the risk of NCPAP failure in the first 72 hours using survival analysis. Methods: This prospective observational cohort study included all neonates with 28 - 36 weeks gestation born at Hasan Sadikin General Hospital, Bandung, Indonesia, within March to May 2019, with respiratory distress and NCPAP as respiratory support. Clinical monitoring was conducted using Downes score at birth, 2, 6, 12, and 24 hours of age. The time of NCPAP failure in the first 72 hours was also obtained. Survival analysis with Kaplan-Meier and Cox regression was used to determine the association. Results: This study analyzed 121 neonates at 72 hours with an overall survival rate of 70.2% and a mean survival time of 61.1 hours. Neonates born 28 < 32 weeks and birth weight 1000 - 1499 g had the lowest survival (54.5% and 56.9%). Downes score ≥ 4 at birth and 2 and 6 hours had lower survival than Downes score < 4 (67.7%, 60.5%, and 52.7%). The risk of NCPAP failure in 72 hours was increased with a higher Downes score at 2 hours (hazard ratio [HR] = 1.86 [95% confidence interval [CI]: 1.3 - 2.6, P < 0.001), 6 hours (HR = 1.67 [95% CI: 1.2 - 2.2], P < 0.001). Downes score ≥ 4 at 2 hours (3.26 times, P = 0.030) and 6 hours (2.44 times, P = 0.014) had a high risk of NCPAP failure in 72 hours. Conclusions: The increase in Downes score was associated with a high risk of NCPAP failure at 72 hours of age in preterm neonates with respiratory distress. Two to six hours of monitoring of the Downes score should be considered a critical time for referral.
{"title":"Downes Score as a Predictor of Nasal Continuous Positive Airway Pressure Failure in Neonates of 28 - 36 Weeks Gestation with Respiratory Distress: A Survival Analysis","authors":"T. Yuniati, V. Permatagalih, F. Suryaningrat, Kurnia Wahyudi, F. Kadi, Aris Primadi, A. Sukadi","doi":"10.5812/ijp-134539","DOIUrl":"https://doi.org/10.5812/ijp-134539","url":null,"abstract":"Background: Respiratory distress is the most often encountered problem in preterm infants and the most frequently encountered reason for neonatal intensive care unit (NICU) admission. It can develop into respiratory failure and cause high morbidity and mortality. Noninvasive respiratory support, such as nasal continuous positive airway pressure (NCPAP), was the first line for neonates with respiratory distress. The progression of respiratory distress to respiratory failure in neonates with NCPAP (NCPAP failure) increases the need for mechanical ventilation on the first day of life. With limited resources, clinical observation is critical to predict prognosis and golden time for referral. Downes scores are the accurate and easiest measurement that is used to determine the severity and monitoring of respiratory distress in neonates. However, in Indonesia, there has still been no study that showed an effect of the increment of Downes score in 24 hours and the risk of NCPAP failure. Objectives: This study aimed to measure the association of Downes score at birth, ages 2, 6, 12, and 24 hours, and the risk of NCPAP failure in the first 72 hours using survival analysis. Methods: This prospective observational cohort study included all neonates with 28 - 36 weeks gestation born at Hasan Sadikin General Hospital, Bandung, Indonesia, within March to May 2019, with respiratory distress and NCPAP as respiratory support. Clinical monitoring was conducted using Downes score at birth, 2, 6, 12, and 24 hours of age. The time of NCPAP failure in the first 72 hours was also obtained. Survival analysis with Kaplan-Meier and Cox regression was used to determine the association. Results: This study analyzed 121 neonates at 72 hours with an overall survival rate of 70.2% and a mean survival time of 61.1 hours. Neonates born 28 < 32 weeks and birth weight 1000 - 1499 g had the lowest survival (54.5% and 56.9%). Downes score ≥ 4 at birth and 2 and 6 hours had lower survival than Downes score < 4 (67.7%, 60.5%, and 52.7%). The risk of NCPAP failure in 72 hours was increased with a higher Downes score at 2 hours (hazard ratio [HR] = 1.86 [95% confidence interval [CI]: 1.3 - 2.6, P < 0.001), 6 hours (HR = 1.67 [95% CI: 1.2 - 2.2], P < 0.001). Downes score ≥ 4 at 2 hours (3.26 times, P = 0.030) and 6 hours (2.44 times, P = 0.014) had a high risk of NCPAP failure in 72 hours. Conclusions: The increase in Downes score was associated with a high risk of NCPAP failure at 72 hours of age in preterm neonates with respiratory distress. Two to six hours of monitoring of the Downes score should be considered a critical time for referral.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"37 10","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138603853","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: We aimed to establish and validate diagnostic models for distinguishing bacterial/viral infections among sepsis neonates and also a model for prognostic evaluation. Methods: Training data sets (cohorts) of neonatal sepsis patients were derived retrospectively from 2017 to 2019, and the verifying sets were followed up from 2019 to 2021. The backward elimination method of logistic regression was used in identifying the optimum feature combination by adding all potential factors to the regression equation. Results: The current study established 3 models. For distinguishing bacterial sepsis patients and bacterial culture-negative patients, we found Y=1.930+0.105X1+0.891X2-1.389X3-0.774X4 (Y symbolizes the status of bacterial infectious sepsis, X1 is age increase, X2 is intra-amniotic infection (mother), X3 is vomiting sign, and X4 is cough sign). Similarly, for distinguishing bacterial infectious sepsis patients and bacterial/viral double-positive patients, we found Y=2.918+1.568X1+1.882X2-0.113X3-2.214X4-2.255X5-2.312X6 (Y means the bacterial/viral double-positive status, X1 is IL-6 increase, X2 means CRP increase, X3 means age increase, X4 means high fever sign, X5 is cyanotic sign, and X6 is HGB increase). For predicting hospital days as one of the prognoses, we found Y=-1.993+0.073X1+1.963X2+0.466X3-0.791X4-0.633X5 (Y means worse prognosis, which is hospital days longer than 7 days, X1 means age increase, X2 means intra-amniotic infection (mother), X3 is IL-6 increase, X4 is convulsion with unconsciousness, and X5 is cough sign). Then, the ROC curves of the models from the verifying cohort indicated that all of the 3 models had good performance among sepsis children. Conclusions: Two diagnostic models and one prognostic model were established for clinical reference from the current first-step analysis with excellent model performance, which could be suggested as new useful diagnostic tools and a therapeutic strategy guiding marker for neonatal sepsis in the future.
{"title":"Establishment and Validation of Models Based on Clinical Parameters/Symptoms for Diagnostic and Prognostic Assessment of Neonatal Sepsis","authors":"Ying Zhang, Cheng Zhang, Jianbo Shu, Fang Zhang","doi":"10.5812/ijp-138660","DOIUrl":"https://doi.org/10.5812/ijp-138660","url":null,"abstract":"Background: We aimed to establish and validate diagnostic models for distinguishing bacterial/viral infections among sepsis neonates and also a model for prognostic evaluation. Methods: Training data sets (cohorts) of neonatal sepsis patients were derived retrospectively from 2017 to 2019, and the verifying sets were followed up from 2019 to 2021. The backward elimination method of logistic regression was used in identifying the optimum feature combination by adding all potential factors to the regression equation. Results: The current study established 3 models. For distinguishing bacterial sepsis patients and bacterial culture-negative patients, we found Y=1.930+0.105X1+0.891X2-1.389X3-0.774X4 (Y symbolizes the status of bacterial infectious sepsis, X1 is age increase, X2 is intra-amniotic infection (mother), X3 is vomiting sign, and X4 is cough sign). Similarly, for distinguishing bacterial infectious sepsis patients and bacterial/viral double-positive patients, we found Y=2.918+1.568X1+1.882X2-0.113X3-2.214X4-2.255X5-2.312X6 (Y means the bacterial/viral double-positive status, X1 is IL-6 increase, X2 means CRP increase, X3 means age increase, X4 means high fever sign, X5 is cyanotic sign, and X6 is HGB increase). For predicting hospital days as one of the prognoses, we found Y=-1.993+0.073X1+1.963X2+0.466X3-0.791X4-0.633X5 (Y means worse prognosis, which is hospital days longer than 7 days, X1 means age increase, X2 means intra-amniotic infection (mother), X3 is IL-6 increase, X4 is convulsion with unconsciousness, and X5 is cough sign). Then, the ROC curves of the models from the verifying cohort indicated that all of the 3 models had good performance among sepsis children. Conclusions: Two diagnostic models and one prognostic model were established for clinical reference from the current first-step analysis with excellent model performance, which could be suggested as new useful diagnostic tools and a therapeutic strategy guiding marker for neonatal sepsis in the future.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"9 9","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138602117","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}
D. Karpuz, D. Duman, Mehtap Akça, Berfin Ozgokce Ozmen, N. Kuyucu
Objectives: This study intended to investigate laboratory markers and ventricular repolarization in electrocardiograms (ECGs) of children with multisystem inflammatory syndrome (MIS-C). Methods: Children with MIS-C from a single center were included. The study was conducted from January 27, 2022, to January 1, 2023. Basal ECGs, taken at the beginning (before treatment), were evaluated. The 12-lead ECG parameters, QT, QTc, T-peak to T-end (TpTe) distances, TpTe dispersion, and TpTe/QT ratio were compared with the healthy control group. Results: The QT interval, QTc duration, Tp-e distance, Tp-e dispersion, and Tp-e/QTc ratio were prominently higher in the patient group. Cardiac troponin I, NT-proBNP, D-dimer, biochemical data, CRP, and sedimentation also increased in these patients. In the severe MIS-C group, Tp-e dispersion duration was longer than in the mild MIS-C group (P = 0.04). QT duration was positively correlated with troponin I. The D-dimer level was positively correlated with the length of hospitalization of the patients. Conclusions: These results suggest that MIS-C has a significant effect on repolarization, which could lead to lethal arrhythmia, including QT prolongation and ventricular tachycardia. These ECG changes may be strongly related to the prognosis and could help physicians decide which patients might have the risk of lethal arrhythmias.
{"title":"Assessment of Cardiac Arrhythmia Risk in Children with Multisystem Inflammatory Syndrome","authors":"D. Karpuz, D. Duman, Mehtap Akça, Berfin Ozgokce Ozmen, N. Kuyucu","doi":"10.5812/ijp-137189","DOIUrl":"https://doi.org/10.5812/ijp-137189","url":null,"abstract":"Objectives: This study intended to investigate laboratory markers and ventricular repolarization in electrocardiograms (ECGs) of children with multisystem inflammatory syndrome (MIS-C). Methods: Children with MIS-C from a single center were included. The study was conducted from January 27, 2022, to January 1, 2023. Basal ECGs, taken at the beginning (before treatment), were evaluated. The 12-lead ECG parameters, QT, QTc, T-peak to T-end (TpTe) distances, TpTe dispersion, and TpTe/QT ratio were compared with the healthy control group. Results: The QT interval, QTc duration, Tp-e distance, Tp-e dispersion, and Tp-e/QTc ratio were prominently higher in the patient group. Cardiac troponin I, NT-proBNP, D-dimer, biochemical data, CRP, and sedimentation also increased in these patients. In the severe MIS-C group, Tp-e dispersion duration was longer than in the mild MIS-C group (P = 0.04). QT duration was positively correlated with troponin I. The D-dimer level was positively correlated with the length of hospitalization of the patients. Conclusions: These results suggest that MIS-C has a significant effect on repolarization, which could lead to lethal arrhythmia, including QT prolongation and ventricular tachycardia. These ECG changes may be strongly related to the prognosis and could help physicians decide which patients might have the risk of lethal arrhythmias.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":" 31","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138619648","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}
{"title":"Against War, Peace for Every Child, Everywhere","authors":"B. Gharib, Vahid Ziaee, Masoud Mohammadpour","doi":"10.5812/ijp-142556","DOIUrl":"https://doi.org/10.5812/ijp-142556","url":null,"abstract":"<jats:p />","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"46 1","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139215964","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}
M. Goudarzi, A. Maleki, Hassan Radmehr, Alireza Ebrahim Soltani, Elahe Radmehr
Background: Mask ventilation is one of the most important aspects of managing and maintaining a patient's airway. Performing good mask ventilation can avoid the need for intubation. Objectives: This study aimed to compare the ventilation quality of two different mask-holding techniques in infants: The three-finger grip and the three-finger grip plus the newly-devised submental maneuver. Methods: This double-blind, randomized controlled trial included 90 infants under 1 year of age undergoing elective surgery under general inhalation anesthesia in Tehran Children's Medical Center. Each patient was randomly allocated to one of the interventional groups, and general anesthesia was induced using one of the mask-holding techniques before intubation. Demographic data for each patient was collected. Expired tidal volume (VTE) was assessed quantitatively by the Drager machine and then classified into three groups of quality of breath flow as either good (5 - 7 mL/kg), fair (3 - 5 mL/kg), or bad (< 3 mL/kg). Results: In this study, VTE was shown to be statistically significantly better in the submental maneuver compared with the three-finger grip. Good, fair, and bad qualities were recorded for 30, 15, and 0 patients in the three-finger grip group and 39, 6, and 0 patients in the submental maneuver group, respectively (P = 0.025). Classifying patients into four groups of body mass index (BMI), 10 - 14, 15 - 19, 20 - 24, and 25 - 29, we compared VTE between the two techniques within each group. The results showed that in the BMI group of 20 - 24, the quality of breath flow was statistically significantly better in the submental maneuver (P = 0.047). Conclusions: Adding the submental maneuver to the three-finger grip seems to provide better expired tidal volume in infants. Also, it seems that in children with higher BMI and larger submental soft tissue, the submental maneuver provides better ventilation quality than the three-finger grip.
{"title":"Comparison of Facemask Ventilation Quality Between the Three-Finger Grip and the Three-Finger Grip Plus the Newly-Devised Submental Maneuver in Infants: A Double-Blind, Randomized Controlled Trial","authors":"M. Goudarzi, A. Maleki, Hassan Radmehr, Alireza Ebrahim Soltani, Elahe Radmehr","doi":"10.5812/ijp-139732","DOIUrl":"https://doi.org/10.5812/ijp-139732","url":null,"abstract":"Background: Mask ventilation is one of the most important aspects of managing and maintaining a patient's airway. Performing good mask ventilation can avoid the need for intubation. Objectives: This study aimed to compare the ventilation quality of two different mask-holding techniques in infants: The three-finger grip and the three-finger grip plus the newly-devised submental maneuver. Methods: This double-blind, randomized controlled trial included 90 infants under 1 year of age undergoing elective surgery under general inhalation anesthesia in Tehran Children's Medical Center. Each patient was randomly allocated to one of the interventional groups, and general anesthesia was induced using one of the mask-holding techniques before intubation. Demographic data for each patient was collected. Expired tidal volume (VTE) was assessed quantitatively by the Drager machine and then classified into three groups of quality of breath flow as either good (5 - 7 mL/kg), fair (3 - 5 mL/kg), or bad (< 3 mL/kg). Results: In this study, VTE was shown to be statistically significantly better in the submental maneuver compared with the three-finger grip. Good, fair, and bad qualities were recorded for 30, 15, and 0 patients in the three-finger grip group and 39, 6, and 0 patients in the submental maneuver group, respectively (P = 0.025). Classifying patients into four groups of body mass index (BMI), 10 - 14, 15 - 19, 20 - 24, and 25 - 29, we compared VTE between the two techniques within each group. The results showed that in the BMI group of 20 - 24, the quality of breath flow was statistically significantly better in the submental maneuver (P = 0.047). Conclusions: Adding the submental maneuver to the three-finger grip seems to provide better expired tidal volume in infants. Also, it seems that in children with higher BMI and larger submental soft tissue, the submental maneuver provides better ventilation quality than the three-finger grip.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"19 4","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139261255","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: Limb-girdle muscular dystrophy (LGMD) is a bothersome muscle disease associated with weakness of the shoulder and pelvic girdle. Objectives: The study aimed to determine the genetic diversity and relative frequency of various forms of LGMD in Iranian children. Methods: In this descriptive research, 60 children referred to the neurology or emergency department of the Pediatric Medical Center were studied from April 2019 to April 2020. Additional tests (muscle biopsy and genetic testing) were performed to confirm the diagnosis of LGMDs. Quantitative data such as disease level, motor, respiratory, and cardiac functions, and molecular data underwent statistical analysis. Results: A total of 41 patients with a mean age of 11.1 were studied. Twenty-two patients were diagnosed with genetic tests and 19 with muscle biopsies. Also, there were 26.8% cases of alpha sarcoglycanopathy, 24.4% beta sarcoglycanopathy, 17.1% gamma sarcoglycanopathy, 7.3% calpainopathy, 7.3% dysferlinopathy, 7.3% dystroglycanopathy, 7.3% titinopathy, and one case of laminopathy. Among genetically confirmed individuals, 27.3% had SGCB mutation, and 18.2% had SGCA mutation. A significant relationship was seen between the mutation type and creatine phosphokinase (CPK) levels (P < 0.05). Conclusions: The prevalence of alpha and beta sarcoglycanopathy phenotypes in the study population showed that the severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan expression.
{"title":"Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients","authors":"Hossein Farshadmoghadam, Gholamreza Zamani, MahmoodReza Ashrafi, Ali Reza Tavasoli, Morteza Heidari","doi":"10.5812/ijp-129031","DOIUrl":"https://doi.org/10.5812/ijp-129031","url":null,"abstract":"Background: Limb-girdle muscular dystrophy (LGMD) is a bothersome muscle disease associated with weakness of the shoulder and pelvic girdle. Objectives: The study aimed to determine the genetic diversity and relative frequency of various forms of LGMD in Iranian children. Methods: In this descriptive research, 60 children referred to the neurology or emergency department of the Pediatric Medical Center were studied from April 2019 to April 2020. Additional tests (muscle biopsy and genetic testing) were performed to confirm the diagnosis of LGMDs. Quantitative data such as disease level, motor, respiratory, and cardiac functions, and molecular data underwent statistical analysis. Results: A total of 41 patients with a mean age of 11.1 were studied. Twenty-two patients were diagnosed with genetic tests and 19 with muscle biopsies. Also, there were 26.8% cases of alpha sarcoglycanopathy, 24.4% beta sarcoglycanopathy, 17.1% gamma sarcoglycanopathy, 7.3% calpainopathy, 7.3% dysferlinopathy, 7.3% dystroglycanopathy, 7.3% titinopathy, and one case of laminopathy. Among genetically confirmed individuals, 27.3% had SGCB mutation, and 18.2% had SGCA mutation. A significant relationship was seen between the mutation type and creatine phosphokinase (CPK) levels (P < 0.05). Conclusions: The prevalence of alpha and beta sarcoglycanopathy phenotypes in the study population showed that the severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan expression.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"54 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135036888","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, Zhaleh Ataei, Nima Mehdizadegan, Hamid Amoozgar, Hamid Mohammadi, Amir Naghshzan
Background: Branch pulmonary artery stenosis presents as either an isolated disease or in association with congenital heart diseases (in 2 - 3% of cases). Balloon angioplasty (BA) and stent implantation (SI) are two percutaneous methods that are commonly used to treat this condition. We compared the outcomes of these 2 methods in children and adolescents with isolated branch pulmonary artery stenosis. Methods: Pediatric patients with severe branch pulmonary artery stenosis who were referred to our center and underwent transcatheter insertion via either BA or SI between 2010 and 2019 were studied. Patients’ demographic data, including age, gender, and body weight, were recorded. Standard procedures for BA and SI were applied. Post-procedure angiography and echocardiographic parameters were determined and compared between the 2 groups. Patients who were followed up for at least 2 years were selected for this study, and comparative evaluations were performed during the follow-up. Results: Forty patients with a median age of 2.1 years and a median weight of 10 kg were enrolled in the study, of whom 25 and 15 underwent BA and SI, respectively. The trans-stenotic pulmonary artery pressure gradient significantly reduced immediately after both procedures, but there was no significant difference between the BA and SI groups in terms of pulmonary artery pressure gradient early after the procedures (P-value = 0.014). There was a significant decline in the peak right ventricular pressure after both procedures. Restenosis occurred more frequently in the BA group. In the BA group, patients under one year old and weight lower than 10 kg had a lower restenosis recurrence rate, evidenced by echocardiographic measurements, compared to those with a weight over 10 kg. Three patients (12%) in the BA group needed balloon reinsertion. Conclusions: Immediate therapeutic success was similar between BA and SI in patients with branch pulmonary artery stenosis. Re-stenosis occurred more often in the BA group; however, the chance of re-stenosis was lower among patients weighing less than 10 kg over a 2-year follow-up.
{"title":"Results of Transcatheter Therapy with Balloon Versus Stent for Treating Isolated Branch Pulmonary Artery Stenosis in Children and Adolescents: A Midterm Study","authors":"Mohammadreza Edraki, Zhaleh Ataei, Nima Mehdizadegan, Hamid Amoozgar, Hamid Mohammadi, Amir Naghshzan","doi":"10.5812/ijp-137593","DOIUrl":"https://doi.org/10.5812/ijp-137593","url":null,"abstract":"Background: Branch pulmonary artery stenosis presents as either an isolated disease or in association with congenital heart diseases (in 2 - 3% of cases). Balloon angioplasty (BA) and stent implantation (SI) are two percutaneous methods that are commonly used to treat this condition. We compared the outcomes of these 2 methods in children and adolescents with isolated branch pulmonary artery stenosis. Methods: Pediatric patients with severe branch pulmonary artery stenosis who were referred to our center and underwent transcatheter insertion via either BA or SI between 2010 and 2019 were studied. Patients’ demographic data, including age, gender, and body weight, were recorded. Standard procedures for BA and SI were applied. Post-procedure angiography and echocardiographic parameters were determined and compared between the 2 groups. Patients who were followed up for at least 2 years were selected for this study, and comparative evaluations were performed during the follow-up. Results: Forty patients with a median age of 2.1 years and a median weight of 10 kg were enrolled in the study, of whom 25 and 15 underwent BA and SI, respectively. The trans-stenotic pulmonary artery pressure gradient significantly reduced immediately after both procedures, but there was no significant difference between the BA and SI groups in terms of pulmonary artery pressure gradient early after the procedures (P-value = 0.014). There was a significant decline in the peak right ventricular pressure after both procedures. Restenosis occurred more frequently in the BA group. In the BA group, patients under one year old and weight lower than 10 kg had a lower restenosis recurrence rate, evidenced by echocardiographic measurements, compared to those with a weight over 10 kg. Three patients (12%) in the BA group needed balloon reinsertion. Conclusions: Immediate therapeutic success was similar between BA and SI in patients with branch pulmonary artery stenosis. Re-stenosis occurred more often in the BA group; however, the chance of re-stenosis was lower among patients weighing less than 10 kg over a 2-year follow-up.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"14 11","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135043848","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}
Elahe Tari, Morteza Heidari, Reza Shervin Badv, Fatemeh Zamani
Background: Demonstration of high agreement between structural abnormalities identified on magnetic resonance imaging (MRI) and physiologic abnormalities identified on electroencephalography (EEG) could benefit the assessment of epileptic focus in childhood seizures. Objectives: The present study aimed to assess the agreement between abnormal findings on brain MRI and long-term monitoring (LTM) by EEG as the standard protocol in children with abnormal focal epileptic discharges in LTM. Methods: This cross-sectional study was performed on 95 children who suffered from seizures with evidence of focal epileptic discharges in LTM who were referred to the Children's Medical Center in 2017. All patients were also concurrently evaluated by MRI. All MRIs were evaluated twice, before and after receiving the EEG results. Results: In this study, 59 out of 95 patients with abnormal LTM had concurrently abnormal MRI findings. The diagnostic agreement between the MRI and LTM in discovering abnormal findings was found to be high (86.4%) with a kappa correlation coefficient equal to 0.79. Conclusions: About two-thirds of patients with abnormal LTM findings had concurrent abnormal MRI features with high agreement between the two. Thus, MRI and EEG can be valuable in predicting epileptic focus in drug-resistant patients who need surgery.
{"title":"The Agreement Between Long-Term Monitoring by Electroencephalography and Magnetic Resonance Imaging in Paediatric Seizure","authors":"Elahe Tari, Morteza Heidari, Reza Shervin Badv, Fatemeh Zamani","doi":"10.5812/ijp-138279","DOIUrl":"https://doi.org/10.5812/ijp-138279","url":null,"abstract":"Background: Demonstration of high agreement between structural abnormalities identified on magnetic resonance imaging (MRI) and physiologic abnormalities identified on electroencephalography (EEG) could benefit the assessment of epileptic focus in childhood seizures. Objectives: The present study aimed to assess the agreement between abnormal findings on brain MRI and long-term monitoring (LTM) by EEG as the standard protocol in children with abnormal focal epileptic discharges in LTM. Methods: This cross-sectional study was performed on 95 children who suffered from seizures with evidence of focal epileptic discharges in LTM who were referred to the Children's Medical Center in 2017. All patients were also concurrently evaluated by MRI. All MRIs were evaluated twice, before and after receiving the EEG results. Results: In this study, 59 out of 95 patients with abnormal LTM had concurrently abnormal MRI findings. The diagnostic agreement between the MRI and LTM in discovering abnormal findings was found to be high (86.4%) with a kappa correlation coefficient equal to 0.79. Conclusions: About two-thirds of patients with abnormal LTM findings had concurrent abnormal MRI features with high agreement between the two. Thus, MRI and EEG can be valuable in predicting epileptic focus in drug-resistant patients who need surgery.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"4 3","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135391428","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: Cystic hydatid disease is a serious human cestode infection caused by the larval stage of Echinococcus granulosus. Hydatidosis is an important health and economic problem in Iran. Objectives: This study aims to investigate clinical manifestations, laboratory findings, and imaging of hydatidosis in children. Methods: This cross-sectional descriptive study was conducted based on the information recorded in the files of patients hospitalized due to hydatidosis at the Taleghani Children's Hospital in Gorgan from 2014 to 2021. The data was analyzed with the help of SPSS software version 25, utilizing descriptive statistics and the chi-square test. Results: Out of 58,974 patients admitted to Taleghani Hospital during 2014 - 2021, the frequency of hydatidosis was 42 (0.071%) cases. The patients comprised 78.5% boys and 21.5% girls, with an average age of 8.5 years ranging from 3 to 17 years old. A significant statistical difference was seen between the sexes (P = 0.012). There was a history of close contact with animals in 76.2% of patients and 73.9% of children in the village. The frequency of the total cyst was 75, and the most common location of the cyst was in the liver (60%) in the right lobe of the liver (54.6%) and then in the lung (36%) in the RLL region (17.4%). Single cysts (57.1%), unifocal cysts (61.9%), and CE1 cysts (40%) had the highest frequency. The most common symptom of liver involvement was abdominal pain (59.5%) and chronic cough in lung cysts (45.2%). Cysts with a size of 5 - 10 cm had the highest frequency (52%), and most were hypoechoic (48%). Positive serology test was reported in 11 cases (26.2%) and positive pathology in 22 cases (52.4%). The chance of hydatidosis in boys was 2.5 times higher than in girls, and in rural areas, it was more than three times higher than in urban areas. Conclusions: In this study, hydatidosis was more common in village boys aged 3-9. The liver and lung involvement were common, which required surgery in most cases. Considering the high prevalence of this disease in Gorgan, it is necessary to design an intervention plan to reduce children's burden, and a multidisciplinary approach should be planned to reduce its mortality and morbidity among children.
{"title":"Cystic Hydatid Disease in Children in Gorgan from 2014 to 2021","authors":"Leila Barati, Lobat Shahkar, Amirmohammad Raeiji, Gholamreza Veghari","doi":"10.5812/ijp-136687","DOIUrl":"https://doi.org/10.5812/ijp-136687","url":null,"abstract":"Background: Cystic hydatid disease is a serious human cestode infection caused by the larval stage of Echinococcus granulosus. Hydatidosis is an important health and economic problem in Iran. Objectives: This study aims to investigate clinical manifestations, laboratory findings, and imaging of hydatidosis in children. Methods: This cross-sectional descriptive study was conducted based on the information recorded in the files of patients hospitalized due to hydatidosis at the Taleghani Children's Hospital in Gorgan from 2014 to 2021. The data was analyzed with the help of SPSS software version 25, utilizing descriptive statistics and the chi-square test. Results: Out of 58,974 patients admitted to Taleghani Hospital during 2014 - 2021, the frequency of hydatidosis was 42 (0.071%) cases. The patients comprised 78.5% boys and 21.5% girls, with an average age of 8.5 years ranging from 3 to 17 years old. A significant statistical difference was seen between the sexes (P = 0.012). There was a history of close contact with animals in 76.2% of patients and 73.9% of children in the village. The frequency of the total cyst was 75, and the most common location of the cyst was in the liver (60%) in the right lobe of the liver (54.6%) and then in the lung (36%) in the RLL region (17.4%). Single cysts (57.1%), unifocal cysts (61.9%), and CE1 cysts (40%) had the highest frequency. The most common symptom of liver involvement was abdominal pain (59.5%) and chronic cough in lung cysts (45.2%). Cysts with a size of 5 - 10 cm had the highest frequency (52%), and most were hypoechoic (48%). Positive serology test was reported in 11 cases (26.2%) and positive pathology in 22 cases (52.4%). The chance of hydatidosis in boys was 2.5 times higher than in girls, and in rural areas, it was more than three times higher than in urban areas. Conclusions: In this study, hydatidosis was more common in village boys aged 3-9. The liver and lung involvement were common, which required surgery in most cases. Considering the high prevalence of this disease in Gorgan, it is necessary to design an intervention plan to reduce children's burden, and a multidisciplinary approach should be planned to reduce its mortality and morbidity among children.","PeriodicalId":14593,"journal":{"name":"Iranian Journal of Pediatrics","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136113068","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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