Klinische Padiatrie最新文献_第3页

Genetic Counseling for Phenylketonuria Complicated by Undiagnosed Parental Hyperphenylalaninemia in a Single Family. 为一个单亲家庭中未确诊的父母高苯丙氨酸血症并发的苯丙酮尿症提供遗传咨询。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2022-12-20 DOI: 10.1055/a-1970-6353

Kısmet Çıkı, Rıza Köksal Özgül, Yılmaz Yildiz

引用次数: 0

[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome]. [改善巴尔德-比德尔综合征多食相关肥胖症患者的护理和治疗方案]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-03-08 DOI: 10.1055/a-2251-5382

Metin Cetiner, Carsten Bergmann, Markus Bettendorf, Johanna Faust, Anja Gäckler, Bernarda Gillissen, Matthias Hansen, Maximilian Kerber, Günter Klaus, Jens König, Laura Kühlewein, Jun Oh, Annette Richter-Unruh, Julia von Schnurbein, Martin Wabitsch, Susann Weihrauch-Blüher, Lars Pape

{"title":"[Improved Care and Treatment Options for Patients with Hyperphagia-Associated Obesity in Bardet-Biedl Syndrome].","authors":"Metin Cetiner, Carsten Bergmann, Markus Bettendorf, Johanna Faust, Anja Gäckler, Bernarda Gillissen, Matthias Hansen, Maximilian Kerber, Günter Klaus, Jens König, Laura Kühlewein, Jun Oh, Annette Richter-Unruh, Julia von Schnurbein, Martin Wabitsch, Susann Weihrauch-Blüher, Lars Pape","doi":"10.1055/a-2251-5382","DOIUrl":"10.1055/a-2251-5382","url":null,"abstract":"Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive multisystem disease. The pathophysiological origin is a dysfunction of the primary cilium. Clinical symptoms are heterogeneous and variable: retinal dystrophy, obesity, polydactyly, kidney abnormalities, hypogenitalism and developmental delays are the most common features. By the approval of the melanocortin 4 receptor agonist setmelanotide, a drug therapy for BBS-associated hyperphagia and obesity can be offered for the first time. Hyperphagia and severe obesity represent a considerable burden and are associated with comorbidity and increased mortality risk. Due to the limited experience with setmelanotide in BBS, a viable comprehensive therapy concept is to be presented. Therapy decision and management should be conducted in expert centers. For best therapeutic effects with setmelanotide adequate information of the patient about the modalities of the therapy (daily subcutaneous injection) and possible adverse drug events are necessary. Furthermore, the involvement of psychologists, nutritionists and nursing services (support for the application) should be considered together with the patient. The assessment of therapy response should be carried out with suitable outcome measurements and centrally reported to an adequate register.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11383622/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065424","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

[Potential Nephrotoxicity of Combination of Vancomycin and Piperacillin-Tazobactam: Recommendations from the AG ABS of the DGPI supported by experts of the GPN]. [万古霉素和哌拉西林-他唑巴坦联合用药的潜在肾毒性：得到全球网络专家支持的 DGPI ABS AG 的建议]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-09-01 Epub Date: 2024-03-08 DOI: 10.1055/a-2244-7698

Luise Martin, Alenka Pecar, Yeliz Baltaci, Arne Simon, Stefan Kohl, Dominik Müller, Johannes Forster

{"title":"[Potential Nephrotoxicity of Combination of Vancomycin and Piperacillin-Tazobactam: Recommendations from the AG ABS of the DGPI supported by experts of the GPN].","authors":"Luise Martin, Alenka Pecar, Yeliz Baltaci, Arne Simon, Stefan Kohl, Dominik Müller, Johannes Forster","doi":"10.1055/a-2244-7698","DOIUrl":"10.1055/a-2244-7698","url":null,"abstract":"The combination of vancomycin and piperacillin/tazobactam (V+P/T) is used for empirical antibiotic treatment of severe infections, especially in immunocompromised patients and those colonized with multidrug-resistant bacteria. Nephrotoxicity is a frequently observed adverse effect of vancomycin. Its risk can be reduced by therapeutic drug monitoring and adjusted dosing. Piperacillin/tazobactam (P/T) rarely causes interstitial nephritis. The results of retrospective cohort studies in children predominantly show a low, clinically irrelevant, additive nephrotoxicity (defined as an increase in creatinine in the serum) of both substances. Due to the limitations of the existing publications, the ABS working group of the DGPI and experts of the GPN do not recommend against the use of P/T plus vancomycin. Preclinical studies and a prospective study with adult patients, which evaluated different renal function tests as well as clinical outcomes, do not support previous findings of additive nephrotoxicity. Time-restricted use of V+P/T can minimize exposure and the potential risk of nephrotoxicity. Local guidelines, developed in collaboration with the antibiotic stewardship team, should define the indications for empirical and targeted use of P/T and V+P/T. When using combination therapy with V+P/T, kidney function should be monitored through clinical parameters (volume status, balancing, blood pressure) as well as additional laboratory tests such as serum creatinine and cystatin C.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140065425","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

Role of Parameters in Whole Blood Analysis as in Indicator of Systemic Inflammation in Children with Rheumatic Valve Diseases. [全血分析参数作为风湿性瓣膜病患儿全身炎症指标的作用]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-30 DOI: 10.1055/a-2367-9190

Lala Nurmammadova, Yilmaz Yozgat, Can Yilmaz Yozgat, Turkay Babayeva, Nigar Bayramova, Faraz Talebazadeh, Ertan Koç, Feyza Ustabas Kahraman, Ufuk Erenberk

{"title":"Role of Parameters in Whole Blood Analysis as in Indicator of Systemic Inflammation in Children with Rheumatic Valve Diseases.","authors":"Lala Nurmammadova, Yilmaz Yozgat, Can Yilmaz Yozgat, Turkay Babayeva, Nigar Bayramova, Faraz Talebazadeh, Ertan Koç, Feyza Ustabas Kahraman, Ufuk Erenberk","doi":"10.1055/a-2367-9190","DOIUrl":"10.1055/a-2367-9190","url":null,"abstract":"Purpose: The most important cause of mortality and morbidity in acute rheumatic fever (ARF) is carditis and rheumatic heart disease (RHD). The aim of this study was to identify markers that may be indicators of chronic inflammation in whole blood analyses in pediatric patients with RHD who regularly received secondary deposilin prophylaxis.Methods: In our study, 100 children with ARF aged between 4 and 18 years were followed up in the pediatric cardiology outpatient clinic of the patient group. The control group consisted of 100 healthy children of the same sex and age as the patient group. All children in the patient group regularly received deposilin prophylaxis every 21 days. Our study included many whole blood parameters that are reported in the literature to represent changes in chronic inflammatory diseases. These parameters were CRP, RDW, PDW, MPV and leukocyte subtypes, neutrophil, lymphocyte, monocyte counts and their ratios (neutrophil/lymphocyte, platelet/lymphocyte and monocyte/lymphocyte).Results: Leukocyte count, lymphocyte count, basophil count, MLR and basophil count were significantly lower in the patient group than in the control group (p: 0.047, p: 0.023, p: 0.006). In addition, eosinophil count and RDW value were significantly higher in the patient group than in the control group (p: 0.043; p: 0.001).Conclusion: In our study, low leukocyte, lymphocyte, basophil, MLR and higher eosinophil counts indicated that RDW could be effectively used as a marker for regular depositilin prophylaxis in pediatric patients with RHD.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633881","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

Challenges in the Management of Giant Cardiac Rhabdomyoma in a Toddler: Unresponsive to Everolimus Therapy. 治疗幼儿巨大心脏横纹肌瘤的挑战：对依维莫司疗法无反应。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-30 DOI: 10.1055/a-2376-7632

Reyhan Tamer, Hafize Otcu Temur, Ismail Yurtsever, Can Yilmaz Yozgat, Faraz Talebazadeh, Hazar Dogus Kus, Ahmet Berk Erol, Yilmaz Yozgat

引用次数: 0

Role of Oral Iron Treatment in the Management of Severe Dilated Cardiomyopathy in an 18-Month-Old Toddler: A Case Report. 口服铁剂在治疗 18 个月大幼儿严重扩张型心肌病中的作用：病例报告。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-30 DOI: 10.1055/a-2373-0919

Reyhan Tamer, Zeynep Torun, Can Yilmaz Yozgat, Hazar Dogus Kus, Faraz Talebazadeh, Irmak Tahaoğlu, Selcuk Uzuner, Yilmaz Yozgat, Emel Torun

引用次数: 0

The Quality of Life in Patients with Familial Mediterranean Fever and Their Parents Perception. 家族性地中海热患者的生活质量及其父母的看法。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-06 DOI: 10.1055/a-2339-3742

Esra Ensari, Esra Nagehan Akyol Onder, Oznur Bilac, Pelin Ertan

{"title":"The Quality of Life in Patients with Familial Mediterranean Fever and Their Parents Perception.","authors":"Esra Ensari, Esra Nagehan Akyol Onder, Oznur Bilac, Pelin Ertan","doi":"10.1055/a-2339-3742","DOIUrl":"https://doi.org/10.1055/a-2339-3742","url":null,"abstract":"Background: Familial Mediterranean fever (FMF) is a chronic disease characterized by recurrent episodes of fever and polyserositis. This study aimed to assess children's quality of life (QoL), as reported by children and their parents, and to compare the results according to clinical variables.Material and methods: The study examined 107 children with FMF, evaluating their demographic and genetic data, utilizing the Pediatric Quality of Life Inventory (PedsQL) to assess QoL, and comparing scores based on disease severity.Results: The severity of FMF is inversely correlated with QoL scores, with mild cases having the highest scores (97±4), followed by moderate (76±11) and severe cases (52±10.3) (p<0,001). Disease severity, treatment adherence, healthcare utilization, genetic mutations, family income, and maternal age at birth all significantly impact perceived quality of life in FMF patients (p<0,001). Additionally, parents reported lower QoL for children with FMF who experienced various adverse factors such as low family income, household smoking, frequent attacks, hospitalizations, irregular medication use, and low maternal education levels (p<0,001).Conclusion: Children's daily activities, academic performance, and family functioning are all significantly impacted by FMF. Physicians caring for patients with FMF should be aware of the QoL changes in the management of these patients. As a result, medical therapy, patient education, and indicators of psychological and social support can all be offered more effectively.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":null,"pages":null},"PeriodicalIF":1.2,"publicationDate":"2024-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897686","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

[Case Report: Severe Malnutrition due to Alternative Alimentation in a 6-Month old Infant]. [病例报告：病例报告：6 个月大婴儿因替代性喂养导致严重营养不良]。

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-06 DOI: 10.1055/a-2357-1791

Barbara Susanna Moser, Susanne Schibli, Matthias Volkmar Kopp

引用次数: 0

From Fever of Undetermined Origin to Miliary Tuberculosis. 从起因不明的发烧到胆汁性肺结核

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-06 DOI: 10.1055/a-2366-5145

Ana Sofia Rodrigues, Matthias Eckenweiler, Markus Hufnagel, Benedikt Daniel Spielberger

引用次数: 0

An Unexpected Cause of Metabolic Acidosis in a Patient with Urinary Tract Infection. 尿路感染患者代谢性酸中毒的意外原因

IF 1.2 4区医学

Klinische Padiatrie Pub Date : 2024-08-06 DOI: 10.1055/a-2342-7765

Ayça Burcu Kahraman, Emre Leventoğlu, Süleyman Malik Güzel, Çelebi Kocaoğlu

引用次数: 0