The Turkish journal of pediatrics最新文献

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Pulmonary involvement in children with Langerhans cell histiocytosis 朗格汉斯细胞组织细胞增生症患儿的肺部受累情况
The Turkish journal of pediatrics Pub Date : 2024-07-01 DOI: 10.24953/turkjpediatr.2024.4515
Çağrı Coşkun, A. Varan, N. Kurucu, B. Aydın, U. Özçelik, İnci Yaman Bajin, Eren Müngen, Ebru Yalçın, Diclehan Orhan, B. Oğuz, B. Yalçın, T. Kutluk, M. Haliloğlu
{"title":"Pulmonary involvement in children with Langerhans cell histiocytosis","authors":"Çağrı Coşkun, A. Varan, N. Kurucu, B. Aydın, U. Özçelik, İnci Yaman Bajin, Eren Müngen, Ebru Yalçın, Diclehan Orhan, B. Oğuz, B. Yalçın, T. Kutluk, M. Haliloğlu","doi":"10.24953/turkjpediatr.2024.4515","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4515","url":null,"abstract":"Background. Pulmonary Langerhans cell histiocytosis (pLCH) is a rare disease, mostly a component of multisystemic LCH. We aimed to investigate the clinical features and treatment results in children with pLCH.\u0000Methods. We retrospectively reviewed the clinical, radiological, and treatment data of 37 patients with pLCH, diagnosed from 1974 to 2022.\u0000Results. 10% (n=37) of 367 patients with LCH had lung involvement. The median age was 1.8 years (range: 0.4 & 17.7) with a male-to-female ratio of 2.3. At admission 29.7% (n=11) presented with respiratory symptoms. Imaging showed a spectrum from nodular opacities to multiple cysts. All but one patient had multisystem disease. Twenty-nine received vinblastine-containing therapy. Ten-year event-free (EFS) and overall survival (OS) rates were 47.8% and 63.3%, respectively. In children younger and older than two years of age, the 10-year EFS was 53.3% vs. 40.2% and the 10-year OS was 58.7% vs. 68.8%, respectively. In children with and without risk organ involvement, 10-year EFS was 51.9% vs. 46.3% and 10-year OS was 51.9% vs. 73.7%.\u0000Conclusions. Lung and multisystem involvement are significant concerns in LCH, highlighting the need for careful management to reduce morbidity and mortality.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"7 20","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141698830","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 certain perinatal features in the early motor repertoire of infants 围产期的某些特征对婴儿早期运动能力的影响
The Turkish journal of pediatrics Pub Date : 2024-06-06 DOI: 10.24953/turkjpediatr.2024.4513
Aysu Kahraman, Ayşe Aksoy, Gökçen Öz Tunçer, S. Erdem, Ayşe Livanelioğlu
{"title":"The role of certain perinatal features in the early motor repertoire of infants","authors":"Aysu Kahraman, Ayşe Aksoy, Gökçen Öz Tunçer, S. Erdem, Ayşe Livanelioğlu","doi":"10.24953/turkjpediatr.2024.4513","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4513","url":null,"abstract":"Background. Lower gestational age negatively affects the neurodevelopmental outcomes of infants. Early motor repertoire is a reliable way to predict neurodevelopmental outcomes. This study aimed to determine the correlation between gestational age and early motor repertoire in infants and also the roles of multiple pregnancies, gender, cranial utrasonography (USG) results, and birth weight in this relationship.\u0000Methods. This study included 139 infants, who were video recorded 9-17 weeks post-term. The recordings were evaluated using the Motor Optimality Score-Revised (MOS-R). Structural equation modeling tool was used for the path analysis of the models.\u0000Results. There was a weak positive correlation between gestational age and the MOS-R. In the relationship between gestational age and the MOS-R, multiple pregnancies, gender, and USG outcomes had a moderating effect. While abnormal USG, male gender, and singleton pregnancy increased this correlation to a moderate level, normal USG reduced the strength of the correlation. Female and twin pregnancies were non-significant in the model. Birth weight had a full mediating effect on the relationship between gestational age and the MOS-R.\u0000Conclusions. Infants with younger gestational age or lower birth weight, male infants, and infants with problems on cranial USG may have poorer early motor repertoire.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"10 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141379374","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 treatment journey of children with moderate to severe atopic dermatitis in Türkiye: unmet needs 土耳其中重度特应性皮炎患儿的治疗历程:未满足的需求
The Turkish journal of pediatrics Pub Date : 2024-06-05 DOI: 10.24953/turkjpediatr.2024.4569
Deniz İlgün Gürel, Hilal Ünsal, Elif Soyak Aytekin, Özge Soyer, Ü. Şahiner, S. Ersoy Evans, B. Sekerel
{"title":"The treatment journey of children with moderate to severe atopic dermatitis in Türkiye: unmet needs","authors":"Deniz İlgün Gürel, Hilal Ünsal, Elif Soyak Aytekin, Özge Soyer, Ü. Şahiner, S. Ersoy Evans, B. Sekerel","doi":"10.24953/turkjpediatr.2024.4569","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4569","url":null,"abstract":"Background. Atopic dermatitis (AD) substantially burdens individuals, families, and healthcare systems. We aimed to document the treatment journey of pediatric patients with moderate-to-severe AD in a referral center based in our country.\u0000Methods. This retrospective study reviewed patients aged 1-18 years diagnosed with AD, seeking systemic treatment recommendations from the “pediatric allergy and dermatology multidisciplinary team meeting”.\u0000Results. Over the 14-month study period, 30 (12.5%) of 240 AD patients were evaluated in the pediatric dermato-allergy team meetings. The median age of the patients was 13.66 years (Q1-Q3: 7.94-17.27), of whom 60% were male. The median annual healthcare visits for AD were 4 (Q1-Q3: 1.00-8.75). Among the study group, 70% were sensitized to aeroallergens, and admission markers included total IgE (median: 1980 IU/mL, Q1-Q3: 794.50-5446), and eosinophil counts (median: 650, Q1-Q3: 275-1275). All patients utilized intermittent and/or continuous topical corticosteroids (CS), with 56.6% employing short-term/long-term topical tacrolimus. Over the past two years, systemic CSs were utilized in 93.3% of the patients, whereas 57.1% received more than one course. Approximately 43.3% of the patients agreed to receive systemic cyclosporine treatment, with only 30.8% benefiting and 3.3% reporting adverse effects (hypertrichosis and cellulitis). Three patients self-funded dupilumab, all benefiting without adverse effects. Omalizumab, mycophenolate mofetil and narrow-band  ultraviolet (UV) treatments were used in one patient each, with limited benefit observed. Health insurance did not grant approval for a Janus kinase inhibitor for one patient.\u0000Conclusions. Managing moderate to severe AD is complex and costly, considering disease heterogeneity, comorbidities, care pathways, and health system challenges. Addressing the unmet needs should be a priority in Türkiye’s healthcare systems.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"13 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141383593","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 pediatric case with hemolytic uremic syndrome associated with COVID-19, which progressed to end-stage kidney disease 一例与 COVID-19 相关的溶血性尿毒症并发展为终末期肾病的儿科病例
The Turkish journal of pediatrics Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4524
Serra Sürmeli Döven, Esra Danacı Vatansever, Yasemin Yuyucu Karabulut, Berfin Özgökçe Özmen, Fatma Durak, Ali Delibaş
{"title":"A pediatric case with hemolytic uremic syndrome associated with COVID-19, which progressed to end-stage kidney disease","authors":"Serra Sürmeli Döven, Esra Danacı Vatansever, Yasemin Yuyucu Karabulut, Berfin Özgökçe Özmen, Fatma Durak, Ali Delibaş","doi":"10.24953/turkjpediatr.2024.4524","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4524","url":null,"abstract":"Background. Hemolytic uremic syndrome (HUS) is a serious cause of acute kidney injury in children. There is a suggestion that coronavirus disease 2019 (COVID-19) may be a trigger for HUS. In this study, we present a pediatric case diagnosed with HUS associated with COVID-19, which progressed to end-stage kidney disease.\u0000Case. A previously healthy 13-year-old girl with fever and vomiting was referred to our hospital. Laboratory investigations revealed direct Coombs-negative hemolytic anemia, thrombocytopenia and renal impairment accompanied by COVID-19 infection. Although anemia and thrombocytopenia showed improvement on the seventh day after admission, the renal impairment persisted. The histopathological findings of a renal biopsy were compatible with both HUS and COVID-19. One month later, the patient had a recurrence of HUS, again testing positive for COVID-19. Kidney function improved with plasma exchange therapy. Eculizumab treatment was recommenced after COVID-19 PCR became negative. Anemia and thrombocytopenia did not recur with eculizumab, while renal impairment persisted. Eculizumab was discontinued after three months when genetic analysis for HUS was negative. Subsequently, the patient was diagnosed with end-stage kidney disease.\u0000Conclusions. COVID-19 can be associated with HUS relapses, leading to chronic kidney disease. Further studies should investigate the mechanism of HUS associated with COVID-19.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"20 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141106603","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
Health conditions of first-degree relatives of children with familial Mediterranean fever 家族性地中海热儿童一级亲属的健康状况
The Turkish journal of pediatrics Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4589
Sema Yildirim, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, A. Aliyeva, A. Günalp, E. Aslan, Elif Kılıç Könte, Ümit Gül, S. Şahin, K. Barut, Özgür Kasapçopur
{"title":"Health conditions of first-degree relatives of children with familial Mediterranean fever","authors":"Sema Yildirim, Fatih Haşlak, Mehmet Yıldız, Amra Adrovic, A. Aliyeva, A. Günalp, E. Aslan, Elif Kılıç Könte, Ümit Gül, S. Şahin, K. Barut, Özgür Kasapçopur","doi":"10.24953/turkjpediatr.2024.4589","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4589","url":null,"abstract":"Background. Given the strong genetic background of familial Mediterranean fever (FMF), the frequently reported co-existing diseases in children with FMF should also be investigated in other family members. Therefore, we aimed to examine the medical conditions of first-degree relatives (FDRs) of our pediatric patients with FMF in the present study.\u0000Methods. Chronic diseases of FDRs of pediatric 449 FMF, 147 juvenile idiopathic arthritis (JIA) patients and 93 healthy controls (HC) were questioned during their routine clinical visits for 9 consecutive months.\u0000Results. A total of 1975 FDRs of 449 FMF, 690 FDRs of 147 JIA patients, and 406 FDRs of 93 HC were included into the study. The most common medical conditions were non-atopic asthma (n=71, 3.6%), type 2 DM (n=14, 2%), and tonsillectomy history (n=12, 2.95%) in the FMF, JIA, and HC groups, respectively. Atopic diseases (FMF vs. JIA: p=0.013; FMF vs. HC: p=0.014), rheumatic diseases (FMF vs. JIA: p=0.030; FMF vs. HC: p=0.017), and surgical histories (FMF vs. JIA: p<0.01; FMF vs. HC: p=0.026), including adenoidectomy, tonsillectomy, and appendectomy, were significantly more common in the FMF group than in other groups.\u0000Conclusions. Our novel findings may contribute to understanding the hereditary burden of co-existing diseases in children with FMF and encourage further studies involving genetic screenings. ","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"50 42","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141103309","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
Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome 透明纤维瘤病综合征:一种罕见但可识别的综合征
The Turkish journal of pediatrics Pub Date : 2024-05-23 DOI: 10.24953/turkjpediatr.2024.4511
Tuğba Daşar, Hasibe Nesligül Gönen, K. Kösemehmetoğlu, Ö. Tekşam, K. Boduroğlu, G. Utine, P. Ö. Şimşek Kiper
{"title":"Hyaline fibromatosis syndrome: a rare, yet recognizable syndrome","authors":"Tuğba Daşar, Hasibe Nesligül Gönen, K. Kösemehmetoğlu, Ö. Tekşam, K. Boduroğlu, G. Utine, P. Ö. Şimşek Kiper","doi":"10.24953/turkjpediatr.2024.4511","DOIUrl":"https://doi.org/10.24953/turkjpediatr.2024.4511","url":null,"abstract":"Background. Hyaline fibromatosis syndrome is a rare autosomal recessive disorder caused by ANTXR2 pathogenic variants. The disorder is characterized by the deposition of amorphous hyaline material in connective tissues. The hallmarks of the disease are joint contractures, generalized skin stiffness, hyperpigmented papules over extensor surfaces of joints, fleshy perianal masses, severe diarrhea, and gingival hypertrophy. The severity of the disease varies and prognosis is poor. No specific treatment is yet available. Most patients with the severe form of the condition pass away before the second year of age. In this study, we describe the clinical and molecular findings of a cohort of seven hyaline fibromatosis syndrome patients who were diagnosed and followed up at a single tertiary reference center in Turkey.\u0000Methods. Genomic DNA was extracted by standard salting out method from peripheric blood samples of three patients. In one patient DNA extraction was performed on pathology slides since peripheric blood DNA was not available. All coding exons of the ANTXR2 were amplified and sequenced on ABI Prism 3500 Genetic Analyser.\u0000Results. Sanger sequencing was performed in 3 patients and homozygous c.945T>G p.(Cys315Trp), c.1073dup p.(Ala359CysfsTer13), and c.1074del p.(Ala359HisfsTer50) variants were identified in ANTXR2. All patients passed away before the age of five years.\u0000Conclusions. HFS is a rare, progressive disorder with a broad phenotypic spectrum. HFS can be recognized easily with distinctive clinical features. Nevertheless, it has poor prognosis with increased mortality due to severe clinical decompensation.","PeriodicalId":101314,"journal":{"name":"The Turkish journal of pediatrics","volume":"73 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141105926","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
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
{"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
{"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
{"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
{"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}
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