Klinische Padiatrie最新文献_第6页

Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease. 评估溶酶体贮积症的溶酶体脂质分析诊断。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-25 DOI: 10.1055/a-2343-5616

Burcu Civelek-Ürey, Cigdem Seher Kasapkara, Gürsel Biberoğlu, Rıdvan Murat Öktem, Mehmet Gunduz, Oya Kıreker-Köylü, Burak Yürek, Berrak Bilginer Gürbüz, Leyla Tumer

{"title":"Evaluation of Lysosphingolipid Analysis for the Diagnosis of Lysosomal Storage Disease.","authors":"Burcu Civelek-Ürey, Cigdem Seher Kasapkara, Gürsel Biberoğlu, Rıdvan Murat Öktem, Mehmet Gunduz, Oya Kıreker-Köylü, Burak Yürek, Berrak Bilginer Gürbüz, Leyla Tumer","doi":"10.1055/a-2343-5616","DOIUrl":"https://doi.org/10.1055/a-2343-5616","url":null,"abstract":"Lysosomal storage disorders (LSD) are a group of inherited inborn metabolism errors that are characterized by a deficiency in the lysosomal enzyme. In patients with suspected lipid storage disorders, confirmation of the diagnosis relies predominantly on the measurement of specific enzymatic activities and molecular genetic studies. New approaches to the measurement of lysosphingolipids have been developed that may serve as a rapid first-tier screening tests for the evaluation of lysosomal storage disorders. The present study evaluates the results of lysosphingolipid screening tests in patients with suspected lysosomal storage diseases. Lysosphingolipid elevation was detected in five patients examined with suspected lysosomal storage disease, and a definitive diagnosis was reached based on genetic analysis. Our data support recent evidence of the primary role of LysoSLs in the diagnosis of sphingolipidosis, and suggest that these biomarkers may be used for diagnosis and treatment monitoring in the future.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142349287","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}

引用次数: 0

[Perforated Appendicitis on the Basis of Abdominal Tuberculosis]. [腹腔结核基础上的穿孔性阑尾炎]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-25 DOI: 10.1055/a-2407-2412

Helen Glosse, Raphael Staubach, Steffan Loff

引用次数: 0

Distinguishing Features of Childhood Renal Dysplasia. 儿童肾发育不良的鉴别特征。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-20 DOI: 10.1055/a-2373-0785

Ece Mekik, Zeynep Birsin Özçakar, Nilgun Cakar, Burcu Biral Coşkun, Beyza Doğanay, Fatos Yalcinkaya

{"title":"Distinguishing Features of Childhood Renal Dysplasia.","authors":"Ece Mekik, Zeynep Birsin Özçakar, Nilgun Cakar, Burcu Biral Coşkun, Beyza Doğanay, Fatos Yalcinkaya","doi":"10.1055/a-2373-0785","DOIUrl":"https://doi.org/10.1055/a-2373-0785","url":null,"abstract":"Background: Renal dysplasia (RD) is a major cause of chronic kidney disease (CKD) in childhood. Herein, we present a single-center experience about distinctive features of different subtypes of dysplasia.Methods: All children with RD admitted between January 2018 and June 2019 were included in this cross-sectional study. Patients were classified as having unilateral RD, bilateral RD, posterior urethral valves (PUV), and multicystic-dysplastic kidneys (MCDK).Results: A total of 198 patients (108 unilateral RD, 31 bilateral RD, 16 PUV, and 43 MCDK) with a follow-up period of 80 (1.5-240) months were included. The overall consanguinity rate was 22%, whereas it was 56% in bilateral RD patients. Two-thirds had additional urogenital anomalies. Hypertension was detected in 16% of the patients, and 20% had median proteinuria of 16 (5.2-173) mg/m2/h, which was significantly higher in the PUV and bilateral RD groups. The overall rate of CKD was 23%, which was more frequent in bilateral RD and PUV groups. The median age at end-stage renal disease was 91.5 (0.5-208) months, including 12 renal transplant patients.Conclusions: As different subtypes of RD have distinct clinical and prognostic features, the follow-up of RD patients should be individualized, and modifiable complications such as proteinuria and HT should be monitored closely.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290292","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}

引用次数: 0

10 Years of Antenatal Hydronephrosis Experience: Comparing Two Different Guidelines. 10 年产前肾积水经验：比较两种不同的指南。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-20 DOI: 10.1055/a-2381-7373

Esra Ensari, Onder Yavascan, Caner Alparslan, Elif Perihan Oncel, Aslıhan Arslan Maden, Belde Kasap Demir, Demet Alaygut, Tunc Ozdemir

{"title":"10 Years of Antenatal Hydronephrosis Experience: Comparing Two Different Guidelines.","authors":"Esra Ensari, Onder Yavascan, Caner Alparslan, Elif Perihan Oncel, Aslıhan Arslan Maden, Belde Kasap Demir, Demet Alaygut, Tunc Ozdemir","doi":"10.1055/a-2381-7373","DOIUrl":"https://doi.org/10.1055/a-2381-7373","url":null,"abstract":"Background: Antenatal hydronephrosis refers to the dilation of the renal pelvis and/or calyces in the developing fetus. The challenge lies in distinguishing between cases that warrant long-term follow-up or surgical intervention and those with transient hydronephrosis that require minimal invasive investigations.Materials and methods: Our study aimed to assess and contrast the efficacy of the 2015 Congenital Anomalies of Kidney and Urinary Tract Guideline from the Turkish Society of Pediatric Nephrology with the Tepecik Antenatal Hydronephrosis Guideline, which was previously employed in our hospital. We conducted a comparative analysis of demographic data, outcome conditions, additional imaging requirements and quantities, radiation exposures, and rates of surgical interventions between two groups.Results: Group 2 had a significantly higher detection rate of Vesicoureteral Reflux via voiding cystourethrogram at 38.5% compared to Group 1's 13.4% (p<0.01). The incidence of abnormal findings with dimercaptosuccinic acid was similar between Group 1 (28.5%) and Group 2 (26.4%) (p>0.01), but Group 2 had a higher rate of obstruction diagnosis at 68.8% versus Group 1's 29.4% (p<0.01). Group 1 had greater median radiation exposure (500 mrem vs. 200 mrem, p<0.01), and a higher proportion of patients underwent surgery (34.2% vs. 21.9%, p<0.01).Conclusion: This study showed that the new guideline required fewer tests, was less invasive, and exposed patients to less radiation than the old guideline.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290290","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}

引用次数: 0

A Prospective Study on Different Doses of Gammaglobulin Plus Aspirin in the Pediatric Kawasaki Disease and the Impacts on CRP and WBC Levels. 关于不同剂量丙种球蛋白加阿司匹林治疗小儿川崎病及其对 CRP 和白细胞水平影响的前瞻性研究

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-20 DOI: 10.1055/a-2373-0867

Xiufang Su, Pingping Wang, Biao Li

{"title":"A Prospective Study on Different Doses of Gammaglobulin Plus Aspirin in the Pediatric Kawasaki Disease and the Impacts on CRP and WBC Levels.","authors":"Xiufang Su, Pingping Wang, Biao Li","doi":"10.1055/a-2373-0867","DOIUrl":"https://doi.org/10.1055/a-2373-0867","url":null,"abstract":"Objective: To evaluate the efficacy of different doses of gammaglobulin combined with aspirin in treating pediatric Kawasaki disease and its impact on C-reactive protein (CRP) and white blood cell (WBC) levels.Methods: A prospective study was conducted with 150 children (3groups) diagnosed with Kawasaki disease. Group A received a higher dose of intravenous gammaglobulin (2.5 g/kg) combined with aspirin, Group B received a standard dose of intravenous gammaglobulin (2 g/kg) combined with aspirin, and Group C received a lower dose of intravenous gammaglobulin (1 g/kg) combined with aspirin. All groups received oral aspirin therapy (30 mg/kg/day) for a standard duration. The time to symptom improvement, treatment efficacy, laboratory parameters, and adverse reactions were monitored and analyzed.Results: Group B showed a shorter time to symptom relief compared to Groups A and C, particularly in fever reduction, mucosal congestion, cervical lymph node enlargement, and limb symptoms. The total effective rate was higher in Group B compared to Groups A and C. Group B showed improvements in WBC, CRP, ESR, and PLT levels.Conclusion: Standard-dose intravenous gammaglobulin combined with aspirin was more effective in treating pediatric Kawasaki disease compared to higher and lower doses. The treatment regimen in Group B resulted in shorter time to symptom relief, higher total effective rate, improved biochemical markers. Incidence of adverse reactions was similar among the three groups, demonstrating the safety of standard dosage.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":1.2,"publicationDate":"2024-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142290291","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}

引用次数: 0

A Misdiagnosis of MIS-C: Acute Pneumococcal Meningitis Due to Serotype 19F in A Child with Acute SARS-CoV-2 Infection with a Severe Disease Course. 误诊为 MIS-C：一名急性 SARS-CoV-2 感染儿童因血清型 19F 而导致急性肺炎球菌脑膜炎，病程严重。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-05-31 DOI: 10.1055/a-2296-2298

Rumeysa Yalcinkaya, Fatma Nur Oz, Zeynep Savas Sen, Ayse Kaman, Suna Ozdem, Ruveyda Gumuser Cinni, Gonul Tanir

{"title":"A Misdiagnosis of MIS-C: Acute Pneumococcal Meningitis Due to Serotype 19F in A Child with Acute SARS-CoV-2 Infection with a Severe Disease Course.","authors":"Rumeysa Yalcinkaya, Fatma Nur Oz, Zeynep Savas Sen, Ayse Kaman, Suna Ozdem, Ruveyda Gumuser Cinni, Gonul Tanir","doi":"10.1055/a-2296-2298","DOIUrl":"10.1055/a-2296-2298","url":null,"abstract":"According to the 2020 CDC criteria, multisystem inflammatory syndrome in children (MIS-C) due to Coronavirus disease-19 (COVID-19) is diagnosed when all of the following criteria are met: fever for+≥+24 hours, laboratory evidence of inflammation, multisystem (+≥+2) organ involvement, evidence of SARS-CoV-2 infection or exposure, and no alternative plausible diagnoses (CDC, 2020). Alternative diagnosis need to be excluded before coming upon an MIS-C diagnosis since there are plenty of infectious diseases that may mimic MIS-C (Dworsky et al., Pediatr Infect Dis J 2021; 40; e159-e161; Yalçinkaya et al., Pediatr Infect Dis J 2021; 40; e524-e525; Kaneta et al., Pediatr Infect Dis J 2023; 42; 590-593; Stanzelova et al., Pediatr Infect Dis J 2023; 42; e201-e203; Kolsi et al., Arch Pediatr 2023; 30; 521-523). Herein, we present a 6-year-old girl who was preliminarily diagnosed with MIS-C and received intravenous immunoglobulin (IVIG) treatment before referral to our center. She was diagnosed with acute pneumococcal meningitis due to serotype 19 F and ultimately suffered from sensorineural hearing loss (SNHL) as a sequela. We present this case to remind physicians that MIS-C should not be diagnosed unless other infectious causes are excluded.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"307-310"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141184216","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}

引用次数: 0

Sildenafil as a Potential Therapeutic Option for Refractory Congenital Chylous Ascites in a Premature Neonate: A Case Report and Literature Review. 西地那非作为早产新生儿难治性先天性乳糜腹水的潜在治疗方案：病例报告与文献综述

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-08-06 DOI: 10.1055/a-2319-2490

Filiz Aktürk Acar, Mehmet Mutlu, Yakup Aslan

引用次数: 0

Effect of Colchicine Treatment on Clinical Course in Children with PFAPA Syndrome. 秋水仙碱治疗对 PFAPA 综合征患儿临床病程的影响。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-02-22 DOI: 10.1055/a-2274-9046

İlknur Bagrul, Elif Arslanoglu Aydin, Serife Tuncez, Esra Baglan, Semanur Özdel, Mehmet Bülbül

{"title":"Effect of Colchicine Treatment on Clinical Course in Children with PFAPA Syndrome.","authors":"İlknur Bagrul, Elif Arslanoglu Aydin, Serife Tuncez, Esra Baglan, Semanur Özdel, Mehmet Bülbül","doi":"10.1055/a-2274-9046","DOIUrl":"10.1055/a-2274-9046","url":null,"abstract":"Introduction: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis syndrome (PFAPA) is the most common periodic fever condition in children. There is no consensus on treatment to prevent attacks and reduce their frequency. In this study, we aimed to evaluate the effectiveness of colchicine treatment in PFAPA syndrome. In addition, we described the demographic and clinical features of PFAPA patients.Materials and methods: We retrospectively analyzed 58 PFAPA patients who were started on colchicine treatment between January 2017 and January 2022. Demographic data, clinical features, laboratory tests, genetic analysis of MEditerranean FeVer (MEFV) mutations, and autoinflammatory disease activity index (AIDAI) scores of all patients were evaluated. In addition, patients were divided into two groups according to MEFV variants and compared.Results: Attack frequency, duration, and AIDAI scores decreased in all patients after colchicine treatment. Duration of follow-up was 13.53±6.65 months. The median±IQR age at diagnosis was 3.2 (2-5) years. Thirty three (56.9%) patients had heterozygous mutations of MEFV. The most common MEFV variants were M694V (63.6%). There was no significant difference between the two groups in terms of colchicine responses.Conclusion: Colchicine treatment is effective and safe in patients with PFAPA who have frequent attacks. No association was established between the presence of heterozygous mutations of MEFV and colchicine response.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"296-300"},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139931747","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}

引用次数: 0

Allelic Variants of the Complement Genes in Acute Postinfectious Glomerulonephritis. 急性感染后肾小球肾炎中补体基因的等位基因变异。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-02-08 DOI: 10.1055/a-2244-7935

Emre Leventoğlu, Betül Öğüt, İpek Işık Gönül, Kibriya Fidan, Oğuz Söylemezoğlu

引用次数: 0

Myelin Oligodendrocyte Glycoprotein Antibody-Associated Bilateral Optic Neuritis (Mogad) in a Five Year Old Girl. [一名 5 岁女孩的髓鞘少突胶质细胞糖蛋白抗体相关性双侧视神经神经炎]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-05-07 DOI: 10.1055/a-2322-1681

Magdalena Hittmann, Ivan Rodriguez, Uwe Wintergerst

引用次数: 0