Klinische Padiatrie最新文献

Severe Neonatal Episodic Laryngospasm (SNEL) due to Mutation in the SCN4A Gene as a Rare Differential Diagnosis in Paroxysmal Inspiratory Stridor with Cyanosis in Infancy. SCN4A基因突变导致的严重新生儿发作性喉痉挛（SNEL）是婴儿期阵发性吸气性啰音伴发绀的罕见鉴别诊断。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-10-28 DOI: 10.1055/a-2423-8849

Julia Westhoff, Rahel Schuler, Lutz Nährlich, Andreas Hahn

引用次数: 0

SGLT2 Inhibition: A New Glimmer of Hope to Slow Chronic Kidney Disease Progression in Children? SGLT2 抑制剂：减缓儿童慢性肾病进展的一线希望？

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-10-28 DOI: 10.1055/a-2431-6764

Emre Leventoğlu, Sevcan A Bakkaloğlu

引用次数: 0

Cystic Echinococcosis in Paediatric Refugees: A Case Series. 儿童难民中的囊性棘球蚴病：病例系列。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-10-15 DOI: 10.1055/a-2417-6711

David Topitz, Maria Rothensteiner, Sebastian Baier-Grabner, Michael Langthaler, Stefan Reithmayr, Angela Zacharasiewicz, Julian Hotz, Marc Tebruegge, Heimo Lagler, Florian Götzinger

引用次数: 0

Urethral Catheterization as a cause of Kidney Failure after Successfully Treated Hemolytic Uremic Syndrome. 尿道导管插入术是溶血性尿毒症成功治疗后出现肾衰竭的原因之一。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-10-15 DOI: 10.1055/a-2417-6806

Emre Leventoglu, Ali Sezer, Bilge Türedi, Bahar Büyükkaragöz

引用次数: 0

Finding of a Homozygous SLC26A3 Mutation in a German Newborn with Congenital Chloride Diarrhea Presenting with Polyhydramnios and Dilated Bowel Loops. 在一名患有先天性氯化物腹泻并伴有多水肿和肠套叠的德国新生儿体内发现同型 SLC26A3 基因突变

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-10-15 DOI: 10.1055/a-2407-2349

Philipp Fecher, Eric Frieauff, Rebecca Paul, Johannes Wirbelauer

引用次数: 0

Network Activeoncokids - Centralized Physical Activity Counseling for Children, adolescents, and Young Adults Across German-Speaking Countries Throughout All Oncological Treatment Phases. 网络 Activeoncokids - 在所有肿瘤治疗阶段为德语国家的儿童、青少年和年轻人提供集中的体育锻炼咨询。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-27 DOI: 10.1055/a-2381-7299

Gabriele Gauß, Sabine Kesting, Joachim Boos, Dirk Reinhardt, Miriam Götte

引用次数: 0

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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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