The Turkish journal of pediatrics最新文献_第6页

Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye 威廉姆斯综合征患者的先天性心脏缺陷和术后随访--来自土耳其的单中心经验和病例回顾

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4591

A. Orgun, K. Tokel, İ. Erdoğan, B. Varan, Murat Özkan, S. Aşlamacı

Background. Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye.Materials and Methods. Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated.Results. A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period.Conclusion. Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time.

背景。心血管系统受累在威廉姆斯综合征（WS）患者中相当常见，也是发病和死亡的主要原因，其中大部分患者需要接受手术治疗。本研究旨在详细评估单中心经验中威廉姆斯综合征患者的外科手术特点和结果，并对土耳其进行详细回顾。对 1992 年至 2021 年间确诊的 35 名 WS 患儿进行了回顾性评估，包括心血管数据、手术治疗特点和结果。结果。共对 35 名威廉姆斯综合征患者（24 名男性）进行了评估，心脏诊断的中位年龄为 6 个月（2 天-6 岁）。WS患者的心脏缺陷表现为主动脉瓣上狭窄（SVAS）（30例，85%）和外周肺动脉狭窄（PPS）（21例，65%）。71%的患者存在其他心脏异常。在所有WS患者中，SVAS和PPS手术率为77.1%。患者的中位手术年龄为2.5岁（范围为7个月至15.5岁）。没有患者死于手术。但有一名患者在血管造影术开始时因麻醉导致室性心动过速而死亡。在土耳其发表的文章中共评估了 138 名 WS 患者（63% 为男性）。在138名患者中，64.4%患有SVAS，52.1%患有PPS，39.8%患有其他心脏异常。中位随访时间从17个月到18年不等，6名（4.3%）患者在术后早期死亡。心血管系统受累极为常见，是 WS 患者发病和死亡的主要原因，通常需要手术干预。正如我们的研究（包括 35 名 WS 患者）和土耳其的出版物所显示的那样，WS 患者的 SVAS 通常需要手术治疗，尤其是在患者出生后的第一年。另一方面，与 SVAS 相比，PPS 需要手术的频率较低，而且肺动脉狭窄似乎会随着时间的推移而减轻。

{"title":"Congenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye","authors":"A. Orgun, K. Tokel, İ. Erdoğan, B. Varan, Murat Özkan, S. Aşlamacı","doi":"10.24953/turkjpediatr.2024.4591","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4591","url":null,"abstract":"Background. Cardiovascular system involvement is quite common and the leading cause of morbidity and mortality in patients with Williams syndrome (WS), most of whom need surgery. The present study aimed to provide a detailed evaluation of the features of surgical procedures and outcomes of patients with WS given as single-center experience, and additionally to make a detailed review from Türkiye.\u0000Materials and Methods. Thirty-five children with WS diagnosed between the years 1992 and 2021 were evaluated retrospectively including cardiovascular data, surgical treatment features, and outcomes. A total of six articles from Türkiye were evaluated.\u0000Results. A total of 35 patients with Williams Syndrome (24 male) with a median age of cardiologic diagnosis of 6 months (range, 2 days-6 years) were evaluated. The cardiac defects of the patients with WS were found as supravalvular aortic stenosis (SVAS) (n=30, 85%) and peripheral pulmonary stenosis (PPS) (n=21, 65%). Additional cardiac anomalies were seen in 71% patients. The rate of SVAS and PPS surgery in all patients with WS was 77.1%. The median surgical age of the patients was 2.5 years (range, 7 months-15.5 years). No patients died due to surgery. But one patient died because of ventricular tachycardia due to anesthesia at the beginning of angiography. A total of 138 (63% male) patients with WS were evaluated from the articles published in Türkiye. Of 138 patients, 64.4% had SVAS, 52.1% had PPS, and 39.8% had additional cardiac anomaly. The median follow-up period ranged from 17 months to 18 years, and six (4.3%) patients died in the early postoperative period.\u0000Conclusion. Cardiovascular system involvement is extremely common and is the leading cause of morbidity and mortality in patients with WS, often requiring surgical intervention. As seen in our study including 35 patients with WS and in publications from Türkiye, SVAS in patients with WS generally requires surgery, especially in the first year of life. PPS, on the other hand, requires surgery less frequently than SVAS, and pulmonary stenosis appears to decrease over time.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"58 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141102729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Exercise capacity and muscle strength in patients who have undergone the Fontan procedure: a retrospective follow-up study 丰坦手术患者的运动能力和肌肉力量：一项回顾性随访研究

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4570

Haluk Tekerlek, M. Sağlam, S. N. Selçuk, H. Aykan, N. Vardar Yağlı, Ebru Çalık Kütükcü, Deniz İnal İnce, Tevfik Karagöz

Background. Due to their relationship with clinical progression, follow-up of exercise capacity and muscle strength is important for optimal disease management in patients who have undergone the Fontan procedure. We aimed to retrospectively analyze exercise capacity and muscle strength trajectory over approximately 2 years.Methods. Exercise capacity was assessed using an exercise stress test with the modified Bruce protocol on a treadmill, hand grip and knee extensor strength using a hand dynamometer, and body composition using a bioelectrical impedance device. Exercise capacity, muscle strength, and body composition follow-up data recorded between 2020 and 2022 were compared.Results. Fifteen patients [median age from 17 (first assessment) to 18 years (last assessment), 5 females)] with a 20-month median follow-up time were analyzed retrospectively. There was an increase in weight, height, body mass index, and body fat weight (p<0.05). There was a tendency for increased handgrip strength (%) (p=0.069), but no significant difference was observed in the knee extensor strength of patients during the follow-up period (p>0.05). The changes in heart rate (HR) and oxygen saturation were higher in the last test than in the first test (p<0.05). Maximum HR (HRmax), % predicted HRmax and HR reserve recorded during the test and HR 1 minute after the test were similar between the first and last tests (p>0.05).Conclusions. After 20 months of follow-up, exercise capacity and muscle strength did not decline; instead, the body mass index and fat weight increased. Patients who have undergone the Fontan procedure may not be experiencing a decline in exercise capacity and muscle strength over relatively short time periods during childhood, adolescence, and early adulthood.

背景。由于运动能力和肌力与临床进展的关系，对其进行随访对于优化丰坦手术患者的疾病管理非常重要。我们的目的是回顾性分析约两年的运动能力和肌力轨迹。我们在跑步机上使用改良布鲁斯方案进行运动负荷测试，评估运动能力；使用手部测力计评估手部握力和膝关节伸展肌力；使用生物电阻抗仪评估身体成分。对 2020 年至 2022 年期间记录的运动能力、肌肉力量和身体成分随访数据进行了比较。对 15 名患者（年龄中位数为 17 岁（首次评估）至 18 岁（最后一次评估），5 名女性）进行了回顾性分析，随访时间中位数为 20 个月。体重、身高、体重指数和体脂重量均有所增加（P0.05）。最后一次测试的心率（HR）和血氧饱和度的变化高于第一次测试（P0.05）。经过20个月的随访，运动能力和肌肉力量没有下降，相反，体重指数和脂肪重量有所增加。接受过方坦手术的患者在童年、青春期和成年早期可能不会在相对较短的时间内出现运动能力和肌肉力量的下降。

{"title":"Exercise capacity and muscle strength in patients who have undergone the Fontan procedure: a retrospective follow-up study","authors":"Haluk Tekerlek, M. Sağlam, S. N. Selçuk, H. Aykan, N. Vardar Yağlı, Ebru Çalık Kütükcü, Deniz İnal İnce, Tevfik Karagöz","doi":"10.24953/turkjpediatr.2024.4570","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4570","url":null,"abstract":"Background. Due to their relationship with clinical progression, follow-up of exercise capacity and muscle strength is important for optimal disease management in patients who have undergone the Fontan procedure. We aimed to retrospectively analyze exercise capacity and muscle strength trajectory over approximately 2 years.\u0000Methods. Exercise capacity was assessed using an exercise stress test with the modified Bruce protocol on a treadmill, hand grip and knee extensor strength using a hand dynamometer, and body composition using a bioelectrical impedance device. Exercise capacity, muscle strength, and body composition follow-up data recorded between 2020 and 2022 were compared.\u0000Results. Fifteen patients [median age from 17 (first assessment) to 18 years (last assessment), 5 females)] with a 20-month median follow-up time were analyzed retrospectively. There was an increase in weight, height, body mass index, and body fat weight (p<0.05). There was a tendency for increased handgrip strength (%) (p=0.069), but no significant difference was observed in the knee extensor strength of patients during the follow-up period (p>0.05). The changes in heart rate (HR) and oxygen saturation were higher in the last test than in the first test (p<0.05). Maximum HR (HRmax), % predicted HRmax and HR reserve recorded during the test and HR 1 minute after the test were similar between the first and last tests (p>0.05).\u0000Conclusions. After 20 months of follow-up, exercise capacity and muscle strength did not decline; instead, the body mass index and fat weight increased. Patients who have undergone the Fontan procedure may not be experiencing a decline in exercise capacity and muscle strength over relatively short time periods during childhood, adolescence, and early adulthood.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"31 51","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141104142","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China 对华南地区 18 名 KCNQ2 基因突变患者的临床和遗传分析

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4593

Binbin Cao, B. Peng, Yang Tian, Xiuying Wang, Xiaojing Li, Haixia Zhu, Huiling Shen, Wenxiong Chen

Background. We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China.Methods. Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed.Results. Eighteen epilepsy patients with KCNQ2 mutations, including seven self-limited neonatal epilepsy (SeLNE), two self-limited infantile epilepsy (SeLIE) and nine developmental and epileptic encephalopathy (DEE) were enrolled. The age of onset (p=0.006), mutation types (p=0.029), hypertonia (p=0.000), and seizure offset (p=0.029) were different in self-limited epilepsy (SeLE) and DEE. De novo mutations were mainly detected in DEE patients (p=0.026). The mutation position, EEG or the age of onset were not predictive for the seizure or ID/DD outcome in DEE, while the development of patients free of seizures was better than that of patients with seizures (p=0.008). Sodium channel blockers were the most effective anti-seizure medication, while the age of starting sodium channel blockers did not affect the seizure or development offset. We first discovered the seizure recurrence ratio in SeLNE/SeLIE was 23.1% in South China. Four novel mutations (c.790T>C, c.355_363delGAGAAGAG, c.296+2T>G, 20q13.33del) were discovered. Each of eight mutations (c.1918delC, c.1678C>T, c.683A>G, c.833T>C, c.868G>A, c.638G>A, c.997C>T, c.830C>T) only resulted in SeLE or DEE, while heterogeneity was also found. Six patients in this study have enriched the known phenotype caused by the mutations (c.365C>T, c.1A>G, c.683A>G, c.833T>C, c.830C>T, c.1678C>T).Conclusion. This research has expanded known phenotype and genotype of KCNQ2-related epilepsy, and the different clinical features of SeLE and DEE from South China.

背景。我们旨在了解华南地区KCNQ2突变患者的基因型和表型。分析华南地区 KCNQ2 基因突变患者的临床表现和特征。结果。18例KCNQ2突变的癫痫患者，包括7例自限性新生儿癫痫（SeLNE）、2例自限性婴儿癫痫（SeLIE）和9例发育性癫痫性脑病（DEE）。自限性癫痫（SeLE）和发育性癫痫性脑病（DEE）的发病年龄（P=0.006）、突变类型（P=0.029）、张力过高（P=0.000）和发作偏移（P=0.029）均不同。新突变主要在DEE患者中发现（p=0.026）。突变位置、脑电图或发病年龄不能预测DEE患者的癫痫发作或ID/DD结果，而无癫痫发作患者的发展优于有癫痫发作的患者（p=0.008）。钠通道阻滞剂是最有效的抗癫痫药物，而开始使用钠通道阻滞剂的年龄并不影响癫痫发作或发育偏移。我们首次发现华南地区SeLNE/SeLIE的癫痫复发率为23.1%。我们发现了四个新的突变（c.790T>C、c.355_363delGAGAAGAG、c.296+2T>G、20q13.33del）。八种突变（c.1918delC、c.1678C>T、c.683A>G、c.833T>C、c.868G>A、c.638G>A、c.997C>T、c.830C>T）中的每一种都只导致 SeLE 或 DEE，同时还发现了异质性。本研究中的六名患者丰富了由突变（c.365C>T、c.1A>G、c.683A>G、c.833T>C、c.830C>T、c.1678C>T）引起的已知表型。本研究扩展了已知的 KCNQ2 相关癫痫的表型和基因型，以及华南地区 SeLE 和 DEE 的不同临床特征。

{"title":"Clinical and genetic analysis of 18 patients with KCNQ2 mutations from South China","authors":"Binbin Cao, B. Peng, Yang Tian, Xiuying Wang, Xiaojing Li, Haixia Zhu, Huiling Shen, Wenxiong Chen","doi":"10.24953/turkjpediatr.2024.4593","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4593","url":null,"abstract":"Background. We aimed to delineate the genotype and phenotype of patients with KCNQ2 mutations from South China.\u0000Methods. Clinical manifestations and characteristics of KCNQ2 mutations of patients from South China were analyzed. Previous patients with mutations detected in this study were reviewed.\u0000Results. Eighteen epilepsy patients with KCNQ2 mutations, including seven self-limited neonatal epilepsy (SeLNE), two self-limited infantile epilepsy (SeLIE) and nine developmental and epileptic encephalopathy (DEE) were enrolled. The age of onset (p=0.006), mutation types (p=0.029), hypertonia (p=0.000), and seizure offset (p=0.029) were different in self-limited epilepsy (SeLE) and DEE. De novo mutations were mainly detected in DEE patients (p=0.026). The mutation position, EEG or the age of onset were not predictive for the seizure or ID/DD outcome in DEE, while the development of patients free of seizures was better than that of patients with seizures (p=0.008). Sodium channel blockers were the most effective anti-seizure medication, while the age of starting sodium channel blockers did not affect the seizure or development offset. We first discovered the seizure recurrence ratio in SeLNE/SeLIE was 23.1% in South China. Four novel mutations (c.790T>C, c.355_363delGAGAAGAG, c.296+2T>G, 20q13.33del) were discovered. Each of eight mutations (c.1918delC, c.1678C>T, c.683A>G, c.833T>C, c.868G>A, c.638G>A, c.997C>T, c.830C>T) only resulted in SeLE or DEE, while heterogeneity was also found. Six patients in this study have enriched the known phenotype caused by the mutations (c.365C>T, c.1A>G, c.683A>G, c.833T>C, c.830C>T, c.1678C>T).\u0000Conclusion. This research has expanded known phenotype and genotype of KCNQ2-related epilepsy, and the different clinical features of SeLE and DEE from South China.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"29 24","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141104041","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The role of malnutrition on outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19 营养不良对 COVID-19 引起的儿童多系统炎症综合征（MIS-C）预后的影响

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4586

Tutku Soyer, K. Aykac, G. Özer, Y. Özsürekçi, H. Özcan, K. Yorgancı, O. Abbasoğlu

Background. Malnutrition increases the complications and mortality in critically-ill children. We performed a retrospective analysis to define the impact of malnutrition on the outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19.Methods. Patients with MIS-C were evaluated for demographic features, anthropometric parameters, clinical findings and outcomes. Patients with z scores of body mass index (> 5 years) and weight-for-age (< 5 years) < -2 were considered malnourished. Sarcopenia was defined by total psoas muscle area (tPMA), calculated on abdominal computed tomography (CT) at the level of L3 and L4 vertebrae. The z scores <- 2 for tPMA were considered sarcopenia. The results of patients with and without malnutrition were compared.Results. Twenty-seven patients were included. Forty-four percent (n=12) of patients had malnutrition. Malnutrition was classified as mild to moderate (1/3), severe (1/3) and overweight (1/3). Eighty-two % of cases had acute malnutrition. Among MIS-C symptom criteria, rash was significantly higher in children with malnutrition (p<0.05). Laboratory investigations showed higher ferritin levels in patients with malnutrition (p<0.05). The median tPMA and sarcopenia were significantly higher in patients with malnutrition when compared to patients without malnutrition (42% vs 7%, p<0.05). The oral feeding time, complication rates, and length of hospital stay were similar in both groups (p>0.05).Conclusion. Children with MIS-C already had mild to severe malnutrition at admission. Rash and higher ferritin levels were more common in patients with malnutrition. In addition to anthropometric parameters, sarcopenia calculated using tPMA can be used to predict malnutrition in critically-ill children.

背景。营养不良会增加重症儿童的并发症和死亡率。我们进行了一项回顾性分析，以确定营养不良对COVID-19导致的儿童多系统炎症综合征（MIS-C）预后的影响。我们对儿童多系统炎症综合征（MIS-C）患者的人口统计学特征、人体测量参数、临床结果和预后进行了评估。体重指数（大于 5 岁）和年龄体重（小于 5 岁）z 值小于-2 的患者被视为营养不良。腰肌减少症的定义是腰肌总面积（tPMA），通过腹部计算机断层扫描（CT）在 L3 和 L4 椎体水平计算得出。Z评分为0.05）。MIS-C患儿入院时已有轻度至重度营养不良。皮疹和铁蛋白水平升高在营养不良的患者中更为常见。除人体测量参数外，使用tPMA计算的肌肉疏松症也可用于预测重症儿童的营养不良情况。

{"title":"The role of malnutrition on outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19","authors":"Tutku Soyer, K. Aykac, G. Özer, Y. Özsürekçi, H. Özcan, K. Yorgancı, O. Abbasoğlu","doi":"10.24953/turkjpediatr.2024.4586","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4586","url":null,"abstract":"Background. Malnutrition increases the complications and mortality in critically-ill children. We performed a retrospective analysis to define the impact of malnutrition on the outcomes of multisystem inflammatory syndrome in children (MIS-C) due to COVID-19.\u0000Methods. Patients with MIS-C were evaluated for demographic features, anthropometric parameters, clinical findings and outcomes. Patients with z scores of body mass index (> 5 years) and weight-for-age (< 5 years) < -2 were considered malnourished. Sarcopenia was defined by total psoas muscle area (tPMA), calculated on abdominal computed tomography (CT) at the level of L3 and L4 vertebrae. The z scores <- 2 for tPMA were considered sarcopenia. The results of patients with and without malnutrition were compared.\u0000Results. Twenty-seven patients were included. Forty-four percent (n=12) of patients had malnutrition. Malnutrition was classified as mild to moderate (1/3), severe (1/3) and overweight (1/3). Eighty-two % of cases had acute malnutrition. Among MIS-C symptom criteria, rash was significantly higher in children with malnutrition (p<0.05). Laboratory investigations showed higher ferritin levels in patients with malnutrition (p<0.05). The median tPMA and sarcopenia were significantly higher in patients with malnutrition when compared to patients without malnutrition (42% vs 7%, p<0.05). The oral feeding time, complication rates, and length of hospital stay were similar in both groups (p>0.05).\u0000Conclusion. Children with MIS-C already had mild to severe malnutrition at admission. Rash and higher ferritin levels were more common in patients with malnutrition. In addition to anthropometric parameters, sarcopenia calculated using tPMA can be used to predict malnutrition in critically-ill children.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"31 27","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Pre- and postoperative levels of serum brain-derived neurotrophic factor in neonates with congenital heart defects 先天性心脏缺损新生儿术前和术后血清脑源性神经营养因子水平

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4562

Karim Fatalov, Özden Turan, Murat Özkan, İlkay Erdoğan, Tijen Cankurtaran, Metin Aldemir, Deniz Anuk İnce, Meltem Aksu, Ayşe Nur Ecevit

Background. The objectives of this study were to assess the preoperative and postoperative serum brain- derived neurotrophic factor (BDNF) levels in neonates undergoing surgery for congenital heart defects (CHD). Also to explore the relationship between changes in BDNF levels and the impact of perioperative factors including intraoperative body temperature, aortic cross-clamp time, perfusion time, operation time, inotropic score, vasoactive inotropic score and lactate levels.Methods. Forty-four patients with CHD and 36 healthy neonates were included in the study. Blood samples for serum BDNF levels were collected three times: preoperatively, and at 24 and 72 hours postoperatively from each patient in the operated group. Additionally, samples were collected once from each individual in the non-operated case group and the control group. Serum BDNF levels were analyzed using the Elabscience ELISA (Enzyme-Linked Immunosorbent Assay) commercial kit. Cranial ultrasonography (USG) was performed on all infants with CHD. Following cardiac surgery, patients underwent second and third cranial USG examinations at 24 and 72 hours postoperatively, respectively.Results. Forty-four consecutive patients with CHD were divided into two groups as follows: the operated group (n=30) and the non-operated group (n=14). Although there were no differences in the baseline serum BDNF levels between the case and control groups, the preoperative serum BDNF levels were significantly lower in the patients operated compared to the non-operated patients. The serum BDNF levels at the 24th hour postoperatively were higher than the preoperative levels. However, no significant correlation was found between the serum BDNF levels at 24 and 72 hours postoperatively as well as the cranial USG findings at corresponding times.Conclusions. Serum BDNF levels were initially lower in neonates with CHD who underwent surgery, but increased during the early postoperative period. These results suggest that serum BDNF levels are influenced by CHD and the postoperative period.

研究背景本研究旨在评估接受先天性心脏缺陷（CHD）手术的新生儿术前和术后血清脑源性神经营养因子（BDNF）水平。同时探讨BDNF水平的变化与围手术期因素（包括术中体温、主动脉交叉钳夹时间、灌注时间、手术时间、肌力评分、血管活性肌力评分和乳酸水平）的影响之间的关系。研究纳入了 44 名心脏畸形患者和 36 名健康新生儿。对手术组的每位患者进行了三次血样采集，以检测血清 BDNF 水平：术前、术后 24 小时和 72 小时。此外，还从未动过手术的病例组和对照组中各采集了一次血样。使用 Elabscience ELISA（酶联免疫吸附测定）商业试剂盒分析血清 BDNF 水平。对所有患有先天性心脏病的婴儿进行了头颅超声波检查（USG）。心脏手术后，患者分别在术后 24 小时和 72 小时接受了第二次和第三次头颅 USG 检查。连续 44 例患有先天性心脏病的患者被分为两组：手术组（30 例）和非手术组（14 例）。虽然病例组和对照组的基线血清 BDNF 水平没有差异，但手术组患者术前血清 BDNF 水平明显低于非手术组患者。术后第 24 小时的血清 BDNF 水平高于术前水平。然而，术后 24 小时和 72 小时的血清 BDNF 水平与相应时间的头颅 USG 结果之间没有发现明显的相关性。接受手术的患有先天性心脏病的新生儿的血清BDNF水平最初较低，但在术后早期有所上升。这些结果表明，血清BDNF水平受CHD和术后的影响。

{"title":"Pre- and postoperative levels of serum brain-derived neurotrophic factor in neonates with congenital heart defects","authors":"Karim Fatalov, Özden Turan, Murat Özkan, İlkay Erdoğan, Tijen Cankurtaran, Metin Aldemir, Deniz Anuk İnce, Meltem Aksu, Ayşe Nur Ecevit","doi":"10.24953/turkjpediatr.2024.4562","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4562","url":null,"abstract":"Background. The objectives of this study were to assess the preoperative and postoperative serum brain- derived neurotrophic factor (BDNF) levels in neonates undergoing surgery for congenital heart defects (CHD). Also to explore the relationship between changes in BDNF levels and the impact of perioperative factors including intraoperative body temperature, aortic cross-clamp time, perfusion time, operation time, inotropic score, vasoactive inotropic score and lactate levels.\u0000Methods. Forty-four patients with CHD and 36 healthy neonates were included in the study. Blood samples for serum BDNF levels were collected three times: preoperatively, and at 24 and 72 hours postoperatively from each patient in the operated group. Additionally, samples were collected once from each individual in the non-operated case group and the control group. Serum BDNF levels were analyzed using the Elabscience ELISA (Enzyme-Linked Immunosorbent Assay) commercial kit. Cranial ultrasonography (USG) was performed on all infants with CHD. Following cardiac surgery, patients underwent second and third cranial USG examinations at 24 and 72 hours postoperatively, respectively.\u0000Results. Forty-four consecutive patients with CHD were divided into two groups as follows: the operated group (n=30) and the non-operated group (n=14). Although there were no differences in the baseline serum BDNF levels between the case and control groups, the preoperative serum BDNF levels were significantly lower in the patients operated compared to the non-operated patients. The serum BDNF levels at the 24th hour postoperatively were higher than the preoperative levels. However, no significant correlation was found between the serum BDNF levels at 24 and 72 hours postoperatively as well as the cranial USG findings at corresponding times.\u0000Conclusions. Serum BDNF levels were initially lower in neonates with CHD who underwent surgery, but increased during the early postoperative period. These results suggest that serum BDNF levels are influenced by CHD and the postoperative period. ","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"31 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103887","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Extracorporeal carbon dioxide removal for acute hypercapnic respiratory failure in a child with cystic fibrosis 体外二氧化碳清除术治疗一名囊性纤维化患儿的急性高碳酸血症呼吸衰竭

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4588

Gökçen Özçifçi, G. Koc, E. Eyduran, F. Durak, A. Anıl

Background. Acute respiratory failure is a prevalent condition in childhood with a high rate of mortality. Invasive mechanical ventilation support may be required for the management of these patients. Extracorporeal membrane oxygenation (ECMO) is a method used when ventilation support is insufficient. However, the less invasive extracorporeal carbon dioxide removal method can be used as an alternative in cases of hypercapnic respiratory failure.Case. A 9-year-old patient with cystic fibrosis presented to the hospital with acute respiratory failure due to pneumonia. Bilateral patchy areas of consolidation were evident in the chest x-ray. Invasive mechanical ventilation support was consequently provided to treat severe hypercapnia. Although peak and plateau pressure levels exceeded 32 cmH₂O (49 cmH₂O) and 28 cmH₂O (35 cmH₂O), respectively, the patient continued to have severe respiratory acidosis. Therefore extracorporeal carbon dioxide removal support was initiated to provide lung-protective ventilation. By Day 10, venovenous ECMO support was initiated due to deteriorating oxygenation.Conclusion. In cases where conventional invasive mechanical ventilation support is insufficient due to acute hypercapnic respiratory failure, extracorporeal carbon dioxide removal support, which is less invasive compared to ECMO, should be considered as an effective and reliable alternative method. However, it should be noted that extracorporeal carbon dioxide removal support does not affect oxygenation; it functions solely as a carbon dioxide removal system.

背景。急性呼吸衰竭是儿童期的常见病，死亡率很高。治疗这些患者可能需要侵入性机械通气支持。体外膜肺氧合（ECMO）是在通气支持不足时使用的一种方法。然而，在高碳酸血症呼吸衰竭的病例中，体外二氧化碳清除这种创伤较小的方法也可作为一种替代方法。一名 9 岁的囊性纤维化患者因肺炎导致急性呼吸衰竭而入院。胸部 X 光片显示双侧斑片状合并症。为治疗严重的高碳酸血症，医院为其提供了有创机械通气支持。虽然峰值和高原压力水平分别超过了 32 cmH₂O（49 cmH₂O）和 28 cmH₂O（35 cmH₂O），但患者仍然存在严重的呼吸性酸中毒。因此，患者开始接受体外二氧化碳清除支持治疗，以提供肺保护性通气。到了第 10 天，由于氧合情况恶化，又启动了静脉 ECMO 支持。在急性高碳酸血症呼吸衰竭导致常规侵入性机械通气支持不足的情况下，与 ECMO 相比侵入性较小的体外二氧化碳清除支持应被视为一种有效、可靠的替代方法。但应注意的是，体外二氧化碳清除支持并不影响氧合，它只是一个二氧化碳清除系统。

{"title":"Extracorporeal carbon dioxide removal for acute hypercapnic respiratory failure in a child with cystic fibrosis","authors":"Gökçen Özçifçi, G. Koc, E. Eyduran, F. Durak, A. Anıl","doi":"10.24953/turkjpediatr.2024.4588","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4588","url":null,"abstract":"Background. Acute respiratory failure is a prevalent condition in childhood with a high rate of mortality. Invasive mechanical ventilation support may be required for the management of these patients. Extracorporeal membrane oxygenation (ECMO) is a method used when ventilation support is insufficient. However, the less invasive extracorporeal carbon dioxide removal method can be used as an alternative in cases of hypercapnic respiratory failure.\u0000Case. A 9-year-old patient with cystic fibrosis presented to the hospital with acute respiratory failure due to pneumonia. Bilateral patchy areas of consolidation were evident in the chest x-ray. Invasive mechanical ventilation support was consequently provided to treat severe hypercapnia. Although peak and plateau pressure levels exceeded 32 cmH₂O (49 cmH₂O) and 28 cmH₂O (35 cmH₂O), respectively, the patient continued to have severe respiratory acidosis. Therefore extracorporeal carbon dioxide removal support was initiated to provide lung-protective ventilation. By Day 10, venovenous ECMO support was initiated due to deteriorating oxygenation.\u0000Conclusion. In cases where conventional invasive mechanical ventilation support is insufficient due to acute hypercapnic respiratory failure, extracorporeal carbon dioxide removal support, which is less invasive compared to ECMO, should be considered as an effective and reliable alternative method. However, it should be noted that extracorporeal carbon dioxide removal support does not affect oxygenation; it functions solely as a carbon dioxide removal system.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"26 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141104725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Effects of palivizumab prophylaxis on respiratory syncytial virus (RSV) infections in Montenegro 帕利珠单抗对黑山呼吸道合胞病毒（RSV）感染的预防效果

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4592

E. Lekic, Ljubinka Dragas, Drasko Nikcevic, Jasmina Lekic, Ana Dedic, L. Sulovic

Background. Respiratory syncytial virus (RSV) is one of the most common pathogens causing severe lower respiratory tract disease in infancy and childhood. In newborns, young infants, and in infants with co-morbidities, the risk of severe infection is increased. Current protection against severe RSV infection is immunoprophylaxis with the monoclonal antibody palivizumab. The study aimed to assess the effects of palivizumab prophylaxis in the Republic of Montenegro in comparison to the pre-prophylaxis period.Methods. The study was conducted in prospective/retrospective single center format in Montenegro in the Clinical Center of Podgorica, for the period 2009-2019.Results. A total of 104 high-risk infants in the palivizumab prophylaxis program (2014-2019 RSV seasons) and 168 high-risk children without palivizumab prophylaxis (2009-2013 RSV seasons) were enrolled. A total of 51 children (49.0%) received prophylaxis for prematurity, 33 (31.7%) for bronchopulmonary dysplasia (BPD), 13 (12.5%) for hemodynamically significant heart disease/defect (HSCHD), and 7 (6.8%) for “miscellaneous” indications. In the control group most children had prematurity (101, 60.1%), followed by BPD (59, 35.1%), HSCHD (3, 1.8%), and “miscellaneous” (5, 3.4%) conditions. Readmission to the pediatric intensive care units (PICU) due to RSV infection was significantly lower in prophylaxis group (0.0 vs 16.1%, p<0.001). No lethal outcomes were observed in high-risk children with palivizumab prophylaxis compared to 2.4% in the control group.Conclusions. The introduction of RSV immunoprophylaxis as well as other new protective treatment strategies for high-risk newborns led to significant improvements in infant and childcare in Montenegro. This is the first report on palivizumab prophylaxis in Montenegro, demonstrating the effectiveness and safety of palivizumab use in clinical settings.

背景。呼吸道合胞病毒（RSV）是导致婴幼儿严重下呼吸道疾病的最常见病原体之一。新生儿、年幼婴儿和合并疾病的婴儿发生严重感染的风险会增加。目前预防严重 RSV 感染的方法是使用单克隆抗体帕利珠单抗进行免疫预防。该研究旨在评估在黑山共和国使用帕利珠单抗预防的效果，并与预防前进行比较。研究在黑山波德戈里察临床中心以前瞻性/回顾性单中心形式进行，时间跨度为2009-2019年。共有104名高风险婴儿参加了帕利珠单抗预防计划（2014-2019年RSV流行季节），168名高风险儿童未参加帕利珠单抗预防计划（2009-2013年RSV流行季节）。共有 51 名儿童（49.0%）因早产而接受预防治疗，33 名（31.7%）因支气管肺发育不良（BPD）而接受预防治疗，13 名（12.5%）因血流动力学显著性心脏病/缺陷（HSCHD）而接受预防治疗，7 名（6.8%）因 "其他 "适应症而接受预防治疗。在对照组中，大多数儿童患有早产（101 例，占 60.1%），其次是 BPD（59 例，占 35.1%）、HSCHD（3 例，占 1.8%）和 "其他"（5 例，占 3.4%）。预防组因感染 RSV 而再次入住儿科重症监护室 (PICU) 的比例明显降低（0.0 vs 16.1%，P<0.001）。使用帕利珠单抗预防治疗的高危儿童未出现致命后果，而对照组为2.4%。对高危新生儿采用 RSV 免疫预防以及其他新的保护性治疗策略，大大改善了黑山的婴幼儿护理工作。这是第一份关于黑山帕利珠单抗预防治疗的报告，证明了在临床环境中使用帕利珠单抗的有效性和安全性。

{"title":"Effects of palivizumab prophylaxis on respiratory syncytial virus (RSV) infections in Montenegro","authors":"E. Lekic, Ljubinka Dragas, Drasko Nikcevic, Jasmina Lekic, Ana Dedic, L. Sulovic","doi":"10.24953/turkjpediatr.2024.4592","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4592","url":null,"abstract":"Background. Respiratory syncytial virus (RSV) is one of the most common pathogens causing severe lower respiratory tract disease in infancy and childhood. In newborns, young infants, and in infants with co-morbidities, the risk of severe infection is increased. Current protection against severe RSV infection is immunoprophylaxis with the monoclonal antibody palivizumab. The study aimed to assess the effects of palivizumab prophylaxis in the Republic of Montenegro in comparison to the pre-prophylaxis period.\u0000Methods. The study was conducted in prospective/retrospective single center format in Montenegro in the Clinical Center of Podgorica, for the period 2009-2019.\u0000Results. A total of 104 high-risk infants in the palivizumab prophylaxis program (2014-2019 RSV seasons) and 168 high-risk children without palivizumab prophylaxis (2009-2013 RSV seasons) were enrolled. A total of 51 children (49.0%) received prophylaxis for prematurity, 33 (31.7%) for bronchopulmonary dysplasia (BPD), 13 (12.5%) for hemodynamically significant heart disease/defect (HSCHD), and 7 (6.8%) for “miscellaneous” indications. In the control group most children had prematurity (101, 60.1%), followed by BPD (59, 35.1%), HSCHD (3, 1.8%), and “miscellaneous” (5, 3.4%) conditions. Readmission to the pediatric intensive care units (PICU) due to RSV infection was significantly lower in prophylaxis group (0.0 vs 16.1%, p<0.001). No lethal outcomes were observed in high-risk children with palivizumab prophylaxis compared to 2.4% in the control group.\u0000Conclusions. The introduction of RSV immunoprophylaxis as well as other new protective treatment strategies for high-risk newborns led to significant improvements in infant and childcare in Montenegro. This is the first report on palivizumab prophylaxis in Montenegro, demonstrating the effectiveness and safety of palivizumab use in clinical settings.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"35 41","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103957","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

The effect of 3D modeling on family quality of life, surgical success, and patient outcomes in congenital heart diseases: objectives and design of a randomized controlled trial 三维建模对先天性心脏病家庭生活质量、手术成功率和患者预后的影响：随机对照试验的目标和设计

The Turkish journal of pediatrics

Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4574

Aylin Akça Sümengen, Ceren Zeren Erdem, Damla Özçevik Subaşi, Ezgi Poyraz, Deniz Namlısesli, A. Çeliker, Terman Gümüş, Pelin Ismailoglu, Abdulveli Ismailoglu, Gökçe Naz Çakır

Background. Understanding the severity of the disease from the parents’ perspective can lead to better patient outcomes, improving both the child’s health-related quality of life and the family’s quality of life. The implementation of 3-dimensional (3D) modeling technology in care is critical from a translational science perspective.Aim. The purpose of this study is to determine the effect of 3D modeling on family quality of life, surgical success, and patient outcomes in congenital heart diseases. Additionally, we aim to identify challenges and potential solutions related to this innovative technology.Methods. The study is a two-group pretest-posttest randomized controlled trial protocol. The sample size is 15 in the experimental group and 15 in the control group. The experimental group’s heart models will be made from their own computed tomography (CT) images and printed using a 3D printer. The experimental group will receive surgical simulation and preoperative parent education with their 3D heart model. The control group will receive the same parent education using the standard anatomical model. Both groups will complete the Sociodemographic Information Form, the Surgical Simulation Evaluation Form - Part I-II, and the Pediatric Quality of Life Inventory (PedsQL) Family Impacts Module. The primary outcome of the research is the average PedsQL Family Impacts Module score. Secondary outcome measurement includes surgical success and patient outcomes. Separate analyses will be conducted for each outcome and compared between the intervention and control groups.Conclusions. Anomalies that can be clearly understood by parents according to the actual size and dimensions of the child’s heart will affect the preoperative preparation of the surgical procedure and the recovery rate in the postoperative period.

背景。从父母的角度了解疾病的严重程度可以改善患者的治疗效果，提高患儿的健康相关生活质量和家庭生活质量。从转化科学的角度来看，在护理中实施三维建模技术至关重要。本研究旨在确定三维建模对家庭生活质量、手术成功率和先天性心脏病患者预后的影响。此外，我们还旨在确定与这项创新技术相关的挑战和潜在解决方案。本研究采用两组前测-后测随机对照试验方案。样本量为实验组 15 个，对照组 15 个。实验组的心脏模型将根据他们自己的计算机断层扫描（CT）图像制作，并使用 3D 打印机打印。实验组将通过 3D 心脏模型接受手术模拟和术前家长教育。对照组将使用标准解剖模型接受同样的家长教育。两组都将填写社会人口信息表、手术模拟评估表（第一至第二部分）和儿科生活质量量表（PedsQL）家庭影响模块。研究的主要结果是 PedsQL 家庭影响模块的平均得分。次要结果测量包括手术成功率和患者预后。每项结果都将进行单独分析，并在干预组和对照组之间进行比较。家长可以根据儿童心脏的实际大小和尺寸清楚地了解异常情况，这将影响手术的术前准备和术后恢复率。

{"title":"The effect of 3D modeling on family quality of life, surgical success, and patient outcomes in congenital heart diseases: objectives and design of a randomized controlled trial","authors":"Aylin Akça Sümengen, Ceren Zeren Erdem, Damla Özçevik Subaşi, Ezgi Poyraz, Deniz Namlısesli, A. Çeliker, Terman Gümüş, Pelin Ismailoglu, Abdulveli Ismailoglu, Gökçe Naz Çakır","doi":"10.24953/turkjpediatr.2024.4574","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4574","url":null,"abstract":"Background. Understanding the severity of the disease from the parents’ perspective can lead to better patient outcomes, improving both the child’s health-related quality of life and the family’s quality of life. The implementation of 3-dimensional (3D) modeling technology in care is critical from a translational science perspective.\u0000Aim. The purpose of this study is to determine the effect of 3D modeling on family quality of life, surgical success, and patient outcomes in congenital heart diseases. Additionally, we aim to identify challenges and potential solutions related to this innovative technology.\u0000Methods. The study is a two-group pretest-posttest randomized controlled trial protocol. The sample size is 15 in the experimental group and 15 in the control group. The experimental group’s heart models will be made from their own computed tomography (CT) images and printed using a 3D printer. The experimental group will receive surgical simulation and preoperative parent education with their 3D heart model. The control group will receive the same parent education using the standard anatomical model. Both groups will complete the Sociodemographic Information Form, the Surgical Simulation Evaluation Form - Part I-II, and the Pediatric Quality of Life Inventory (PedsQL) Family Impacts Module. The primary outcome of the research is the average PedsQL Family Impacts Module score. Secondary outcome measurement includes surgical success and patient outcomes. Separate analyses will be conducted for each outcome and compared between the intervention and control groups.\u0000Conclusions. Anomalies that can be clearly understood by parents according to the actual size and dimensions of the child’s heart will affect the preoperative preparation of the surgical procedure and the recovery rate in the postoperative period.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"52 44","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of crescentic glomerulonephritis with exacerbation of pre-existing IgA nephropathy after COVID-19. 一例新月体肾小球肾炎患者在服用 COVID-19 后原有的 IgA 肾病恶化。

The Turkish journal of pediatrics

Pub Date : 2024-01-01 DOI: 10.24953/turkjped.2023.423

Esra Karabağ Yılmaz, Seha Saygılı, Gülüstan Musayeva, Rüveyda Gülmez, Ayşe Ağbaş, Yasemin Özlük, Nur Canpolat

Background: Relapses or new-onset IgA nephropathy (IgAN) have been documented in patients after vaccination against SARS-CoV-2; however, only one adult patient has been reported in whom pre-existing IgAN worsened during coronavirus disease 2019 (COVID-19).

Case: We present the first pediatric case with biopsy-proven IgAN and genetically confirmed Alport syndrome, who developed end-stage kidney disease after an exacerbation of IgAN associated with COVID-19. The patient`s basal serum creatinine was 0.7-0.9 mg/dL before infection. He had not been vaccinated against COVID-19. He was admitted to the hospital with edema, hypertension, an elevated serum creatinine of 4.7 mg/ dL, and massive proteinuria. Three months before admission, he had been admitted to another hospital with COVID -19 and an elevated serum creatinine (1.9 mg/dL), but no biopsy had been performed at that time. The kidney biopsy revealed IgAN with 50% fibrocellular crescents with sclerosed glomeruli, tubular atrophy, and interstitial fibrosis. His serum creatinine did not decrease even after five administrations of pulse steroids, and hemodialysis was initiated.

Conclusion: In conclusion, COVID -19 may pose a high risk for exacerbation of pre-existing glomerular disease. It is therefore necessary to closely monitor the kidney function of patients with underlying glomerulonephritis during and after COVID-19 and consider an early biopsy if serum creatinine does not return to baseline levels. In addition, this case report highlights the clinical importance of the co-occurence of IgAN and Alport syndrome.

背景：有记录显示，接种SARS-CoV-2疫苗后，患者会复发或新发IgA肾病（IgAN）；然而，仅有一名成人患者在2019年冠状病毒病（COVID-19）期间原有的IgAN恶化：我们报告了第一例经活检证实患有 IgAN 并经基因证实患有 Alport 综合征的儿科病例，患者在 COVID-19 导致 IgAN 恶化后发展为终末期肾病。感染前，患者的基础血清肌酐为 0.7-0.9 mg/dL。他没有接种过COVID-19疫苗。他因水肿、高血压、血清肌酐升高至 4.7 毫克/分升和大量蛋白尿入院。入院前三个月，他曾因 COVID-19 和血清肌酐升高（1.9 mg/dL）入住另一家医院，但当时没有进行活组织检查。肾活检结果显示，IgAN伴有50%的纤维新月体，肾小球硬化，肾小管萎缩，肾间质纤维化。他的血清肌酐在使用了五次脉冲类固醇后仍未下降，于是开始进行血液透析：总之，COVID -19可能会造成原有肾小球疾病恶化的高风险。因此，有必要在 COVID-19 期间和之后密切监测潜在肾小球肾炎患者的肾功能，如果血清肌酐没有恢复到基线水平，则应考虑尽早进行活组织检查。此外，本病例报告还强调了 IgAN 和 Alport 综合征并存的临床重要性。

{"title":"A case of crescentic glomerulonephritis with exacerbation of pre-existing IgA nephropathy after COVID-19.","authors":"Esra Karabağ Yılmaz, Seha Saygılı, Gülüstan Musayeva, Rüveyda Gülmez, Ayşe Ağbaş, Yasemin Özlük, Nur Canpolat","doi":"10.24953/turkjped.2023.423","DOIUrl":"10.24953/turkjped.2023.423","url":null,"abstract":"Background: Relapses or new-onset IgA nephropathy (IgAN) have been documented in patients after vaccination against SARS-CoV-2; however, only one adult patient has been reported in whom pre-existing IgAN worsened during coronavirus disease 2019 (COVID-19).Case: We present the first pediatric case with biopsy-proven IgAN and genetically confirmed Alport syndrome, who developed end-stage kidney disease after an exacerbation of IgAN associated with COVID-19. The patient`s basal serum creatinine was 0.7-0.9 mg/dL before infection. He had not been vaccinated against COVID-19. He was admitted to the hospital with edema, hypertension, an elevated serum creatinine of 4.7 mg/ dL, and massive proteinuria. Three months before admission, he had been admitted to another hospital with COVID -19 and an elevated serum creatinine (1.9 mg/dL), but no biopsy had been performed at that time. The kidney biopsy revealed IgAN with 50% fibrocellular crescents with sclerosed glomeruli, tubular atrophy, and interstitial fibrosis. His serum creatinine did not decrease even after five administrations of pulse steroids, and hemodialysis was initiated.Conclusion: In conclusion, COVID -19 may pose a high risk for exacerbation of pre-existing glomerular disease. It is therefore necessary to closely monitor the kidney function of patients with underlying glomerulonephritis during and after COVID-19 and consider an early biopsy if serum creatinine does not return to baseline levels. In addition, this case report highlights the clinical importance of the co-occurence of IgAN and Alport syndrome.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 1","pages":"128-133"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140208779","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Evaluation of functional gastrointestinal disorders in children aged 4-10 years with autism spectrum disorder. 评估 4-10 岁自闭症谱系障碍儿童的功能性胃肠功能紊乱。

The Turkish journal of pediatrics

Pub Date : 2024-01-01 DOI: 10.24953/turkjped.2023.558

Özlem Gülpınar Aydın, Hüseyin Burak Baykara, Kardelen Akın, Sinem Kahveci, Gül Şeker, Yunus Güler, Yeşim Öztürk

Background: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD.

Methods: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs.

Results: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence.

Conclusion: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.

背景：众所周知，自闭症谱系障碍（ASD）儿童普遍患有胃肠道系统疾病。与自闭症谱系障碍相关的一些合并症包括腹痛、便秘、腹泻、胃食管反流、睡眠障碍、癫痫和精神问题。然而，有关 ASD 儿童中存在功能性消化道疾病（FGID）的信息仍然有限，尤其是在土耳其。我们采用罗马标准，旨在调查 ASD 儿童中的 FGIDs：研究样本包括根据 DSM-5 诊断标准被诊断为 ASD 的 68 名 4-10 岁儿童（儿童自闭症评定量表 (CARS-2) 得分超过 30 分）和年龄性别匹配的对照组（78 人）。罗马III标准用于评估FGIDs：结果：与对照组相比，ASD 组的 FGID 发生率更高（76.5%）（p < 0.001）。与对照组相比，ASD组的腹部偏头痛频率增加了10倍（p=0.012），功能性便秘增加了7倍（p < 0.001），大便失禁增加了6倍（p < 0.001）。ASD组中大多数被发现有大便失禁的儿童都没有大便滞留：在这项研究中，ASD 组最常见的 FGID 是腹部偏头痛、功能性便秘和非潴留性大便失禁。研究发现，大多数患有 ASD 的儿童在大便失禁时并未出现粪便滞留现象，这说明社会、心理和行为因素是造成大便失禁的原因。提高医护人员对自闭症儿童大便失禁发生率的认识，将改善这些儿童日常生活中的许多方面。

{"title":"Evaluation of functional gastrointestinal disorders in children aged 4-10 years with autism spectrum disorder.","authors":"Özlem Gülpınar Aydın, Hüseyin Burak Baykara, Kardelen Akın, Sinem Kahveci, Gül Şeker, Yunus Güler, Yeşim Öztürk","doi":"10.24953/turkjped.2023.558","DOIUrl":"10.24953/turkjped.2023.558","url":null,"abstract":"Background: Gastrointestinal system disorders are known to be prevalent among children with autism spectrum disorder (ASD). Some ASD-associated comorbidities are abdominal pain, constipation, diarrhea, gastroesophageal reflux, sleep disturbances, epilepsy, and psychiatric problems. Nonetheless, there is still limited information about the presence of functional GI disorders (FGIDs) among children with ASD, especially in Türkiye. Using the Rome criteria, we aimed to investigate FGIDs in children with ASD.Methods: The sample of the study consisted of 68 children aged 4-10 years, diagnosed with ASD according to the DSM-5 diagnostic criteria and had scores greater than 30 on the Childhood Autism Rating Scale (CARS-2) and an age-sex matched control group (n=78). The Rome III criteria were used to evaluate FGIDs.Results: The frequency of FGIDs in the ASD group was higher (76.5%) compared to the control group (p < 0.001). Compared to the control group, abdominal migraine frequency increased 10 times (p=0.012), functional constipation 7 times (p < 0.001), and fecal incontinence 6 times (p < 0.001) in the ASD group. Stool retention was not present in most children in the ASD group who were found to have fecal incontinence.Conclusion: In this study, the most common FGIDs in the ASD group were abdominal migraine, functional constipation, and non-retentive fecal incontinence. The finding that most children with ASD who had fecal incontinence did not show stool retention implicated social, psychological, and behavioral factors as the causes of incontinence. Raising awareness of healthcare professionals about the frequency of FGIDs in children with ASD will improve many areas in the daily lives of these children.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"66 1","pages":"57-64"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140208788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0