Klinische Padiatrie最新文献_第10页

Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant. 6例罗斯蒙-汤姆森综合征新病例的临床、放射学和分子遗传学发现：方正RECQL4变异的证据

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-02-02 DOI: 10.1055/a-2787-6211

Aslı Genç, Neriman Şahiner, Ahmet Cevdet Ceylan, Merter Keceli, Esra Kılıç

{"title":"Clinical, Radiological and Molecular Genetic Findings in Six New Cases with Rothmund-Thomson Syndrome: Evidence for a Founder RECQL4 Variant.","authors":"Aslı Genç, Neriman Şahiner, Ahmet Cevdet Ceylan, Merter Keceli, Esra Kılıç","doi":"10.1055/a-2787-6211","DOIUrl":"https://doi.org/10.1055/a-2787-6211","url":null,"abstract":"Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterized by poikiloderma, growth retardation, juvenile cataracts, congenital anomalies, and skeletal defects. Rothmund-Thomson syndrome type 2 is caused by biallelic mutations in the RECQL4 gene, leading to DNA repair deficiency and cancer predisposition.We report six pediatric patients from three unrelated families carrying the same pathogenic variant associated with Rothmund-Thomson syndrome type 2. All patients exhibited poikiloderma, facial telangiectasia, skin atrophy, growth retardation, microcephaly, and learning difficulties. Trunk was spared. One patient had hearing loss; another was diagnosed after the appearance of facial lesions, following chronic diarrhea and malnutrition. Osteopenia and metaphyseal growth lines were common on radiographs. Rothmund-Thomson syndrome was diagnosed based on clinical and radiological features. RECQL4 sequencing revealed a homozygous pathogenic c.2415_2419del (p.Gly806_Arg807delinsTer) variant in four patients, and compound heterozygosity with the same variant and a novel pathogenic c.1663_1664del (p.Ser555GlyfsTer27) variant in two siblings.Rare DNA repair disorders should be considered in the differential diagnosis of genodermatoses, especially when accompanied by growth retardation and microcephaly. Our findings highlight the value of combining dermatological, radiological, and molecular assessments for accurate diagnosis and counseling. The recurrence of the same variant in unrelated families from one region suggests a founder effect.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146106018","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

The Effect of Vitamin A and Retinol-Binding Protein Levels in Cord Blood of Very Low Birth Weight Infants on Mortality and Morbidity. 极低出生体重儿脐带血维生素A和视黄醇结合蛋白水平对死亡率和发病率的影响。

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-26 DOI: 10.1055/a-2770-8001

Betül Siyah Bilgin, Gülsüm Kadıoğlu Şimşek, Gökçe Çıplak, Aybüke Yazıcı, Sarkhan Elbayiyev, Hayriye Gözde Kutman Kanmaz, Fuat Emre Canpolat

{"title":"The Effect of Vitamin A and Retinol-Binding Protein Levels in Cord Blood of Very Low Birth Weight Infants on Mortality and Morbidity.","authors":"Betül Siyah Bilgin, Gülsüm Kadıoğlu Şimşek, Gökçe Çıplak, Aybüke Yazıcı, Sarkhan Elbayiyev, Hayriye Gözde Kutman Kanmaz, Fuat Emre Canpolat","doi":"10.1055/a-2770-8001","DOIUrl":"https://doi.org/10.1055/a-2770-8001","url":null,"abstract":"Vitamin A is a fat-soluble micronutrient essential for normal embryonic development, cell differentiation, growth, vision, immunity and reproduction. The aim of this study was to evaluate the effect of vitamin A and retinol-binding protein levels in cord blood of babies born at or below the 31st gestational week on respiratory distress syndrome, intraventricular haemorrhage, necrotising enterocolitis, retinopathy of prematurity and bronchopulmonary dysplasia and mortality.Babies born between 25 0/7 and 30 6/7 gestational weeks were included in the study between January 2021 and December 2022. Blood samples were obtained from the cord blood for retinol and retinol-binding protein levels.Sixty preterm infants born between 25 0/7 and 30 6/7 gestational weeks were included in this study. The mean vitamin A level was 244±140 µg/L and the mean retinol-binding protein level was 1.7±0.4 mg/dL. Among premature infants, 43% had low vitamin A levels and 38% had low retinol-binding protein levels. The retinol-binding protein level was found to be significantly lower in babies with retinopathy of prematurity compared with babies without retinopathy of prematurity (p<0.05).In our study in which we investigated the effect of vitamin A and retinol-binding protein levels on morbidity and mortality in preterm infants, we showed that retinopathy of prematurity increased with low retinol-binding protein levels in cord blood. Further studies by evaluating the retinol-binding protein level together with the vitamin A level in the later days of life in response to vitamin A supplementation may more accurately show the effect of vitamin A on neonatal morbidities.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2026-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146052640","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

Recurrent Pseudomonas aeruginosa Meningitis in an Extremely Low Birth Weight Infant: A Case Report on the Use of Intrathecal Colistin. 极低出生体重儿复发性铜绿假单胞菌脑膜炎一例鞘内粘菌素的应用。

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-15 DOI: 10.1055/a-2767-9917

Sophie Jaisli, Philipp Agyeman, Eveline Perret Hoigné, Jonathan Juzi, André Kidszun

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 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub 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":"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":" ","pages":"27-33"},"PeriodicalIF":0.9,"publicationDate":"2026-01-01","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

An Adolescent Boy with Nutcracker-Syndrome and IgA Nephropathy. 一名患有胡桃夹子综合征和 IgA 肾病的新月男孩。

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub Date: 2024-05-06 DOI: 10.1055/a-2296-2377

Cengiz Zeybek, Bedriye Nuray Alpman, Ertuğrul Çelik

引用次数: 0

COVID-19 vaccination among adolescents and young adults with chronic kidney conditions: a single-center experience. 在患有慢性肾病的青少年中接种 COVID-19 疫苗：单中心经验。

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub Date: 2024-05-31 DOI: 10.1055/a-2319-2648

Demet Baltu, Eda Didem Kurt-Sukur, Tugba Tastemel Ozturk, Bora Gulhan, Fatih Ozaltin, Ali Duzova, Rezan Topaloglu

{"title":"COVID-19 vaccination among adolescents and young adults with chronic kidney conditions: a single-center experience.","authors":"Demet Baltu, Eda Didem Kurt-Sukur, Tugba Tastemel Ozturk, Bora Gulhan, Fatih Ozaltin, Ali Duzova, Rezan Topaloglu","doi":"10.1055/a-2319-2648","DOIUrl":"10.1055/a-2319-2648","url":null,"abstract":"Background: Following the pandemic of COVID-19, the main focus has been on COVID-19 vaccines and herd immunity. Although the safety of the COVID-19 vaccines has been shown in clinical trials, children with chronic diseases were not included. We investigated the side effect profile and safety of the COVID-19 vaccines in adolescents with kidney disease.Methods: A questionnaire including demographic information, history of COVID-19, vaccination status, and vaccine-related side effects was administered to the patients with chronic kidney disease (CKD) stage 2-5, glomerular disease treated with immunosuppression, and kidney transplant recipients.Results: Ninety-eight patients were vaccinated with CoronaVac-inactivated SARS-CoV-2 (n=16) or BNT162b2 messenger RNA (mRNA) COVİD-19 (n=82) vaccine. The mean age was 16.90±2.36 years. The most common side effects were local pain, fatigue, and fever. No serious side effects or renal disease flare were observed. There was no significant difference in the side effects reported after the BNT162b2 mRNA-RNA as compared to the Corona Vac-inactivated SARS-CoV-2 vaccine. No significant relationship was found between the frequency of side effects according to age, glomerular filtration rate, immunosuppressive treatments, CKD stage, and the underlying disease.Conclusion: Although the reported data are subjective because they were obtained through a questionnaire and studies with long-term follow-up are needed, our early experience suggests that the vaccine is safe and adolescents and young adults should be encouraged to be vaccinated.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"14-20"},"PeriodicalIF":0.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141184218","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

Pediatric Syncope: Is the Diagnostic Guideline Implemented and Adhered to? 小儿晕厥：诊断指南是否得到执行和遵守？

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub Date: 2024-07-01 DOI: 10.1055/a-2345-3343

Diane Gatamova, Wieland Kiess, Robert DallaPozza, Andreas Merkenschlager

{"title":"Pediatric Syncope: Is the Diagnostic Guideline Implemented and Adhered to?","authors":"Diane Gatamova, Wieland Kiess, Robert DallaPozza, Andreas Merkenschlager","doi":"10.1055/a-2345-3343","DOIUrl":"10.1055/a-2345-3343","url":null,"abstract":"Background: We sought to investigate adherence to the current pediatric syncope guideline in the emergency department and its impact on the frequency of missed or unnecessary diagnostic measures. For the first time, in 2014 updated guideline defines indispensable basic diagnostic measures and a consecutive algorithm for safe clinical decision making.Patients and method: We analyzed retrospectively 314 pediatric patients, 166 were presented before and 148 after publication of this guideline update.Results: After guideline publication, 54 patients (36.5%) were not treated in accordance with the guideline and 2 (0.63%) cases caused by epileptic seizures were initially misdiagnosed as reflex syncope. Among these 54 patients, 32 (59.3%) inpatient admissions were inappropriate, as well as 11 (20.4%) electroencephalographies, 4 (7.4%) sleep-deprivation EEGs, 2 (3.7%) magnetic resonance imaging, 5 (9.3%) urine diagnostics and 32 (59.3%) blood tests. In 21 cases (38.9%), the medical history was insufficient. ECG was missed in 42 patients (77.8%). There was no significant difference between the pre- and post-guideline groups concerning diagnostic work-up (p=0,12).Discussion: This non-compliance with the guideline did not cause a large number of misdiagnosed epileptic seizures (1.4%) or adverse outcomes but led to waste of resources in healthcare system and undue burdens on patients and their families.Conclusion: In addition to establishment of clinical guidelines, the need for additional measures and strategies to promote their implementation seems obvious.","PeriodicalId":17846,"journal":{"name":"Klinische Padiatrie","volume":" ","pages":"5-13"},"PeriodicalIF":0.9,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476901","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

Correction: Evaluation of Demographic, Clinical, and Electroencephalographic Findings in Pediatric Patients Followed Up for Multisystem Inflammatory Syndrome in Children. 修正：评估儿童多系统炎症综合征的儿童患者的人口学、临床和脑电图结果。

IF 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub Date: 2026-02-13 DOI: 10.1055/a-2796-4950

Nihal Yıldız, Zeynep Gokce Gayretli Aydin, Pınar Özkan Kart, Osman Yesilbas, Embiya Dilber, Tülay Kamasak, Elif Acar Arslan, Gülnur Esenülkü, Sevim Şahin, Ali Cansu

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 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub 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

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 0.9 4区医学

Klinische Padiatrie Pub Date : 2026-01-01 Epub 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":"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":"34-40"},"PeriodicalIF":0.9,"publicationDate":"2026-01-01","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