Turkish archives of pediatrics最新文献

{"title":"Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.","authors":"Ezgi Yalcin Gungoren, Zeynep Meric, Asena Pinar Sefer, Asuman Deveci Ozkan, Salim Can, Royala Babayeva, Nurhan Kasap, Ercan Nain, Esra Ozek Yucel, Ayca Kiykim, Sevgi Bilgic-Eltan, Ayse Deniz Yucelten, Elif Karakoc-Aydiner, Ahmet Ozen, Safa Baris","doi":"10.5152/TurkArchPediatr.2025.24172","DOIUrl":"10.5152/TurkArchPediatr.2025.24172","url":null,"abstract":"<p><p>Objective: Prolidase deficiency is a metabolic and immunological disorder that is inherited in an autosomal recessive manner. In prolidase deficiency, a broad spectrum of differences is observed in patients, ranging from asymptomatic to multisystem involvement. There is scarce information in the literature on the atypical features and immunophenotypes of this disease. Aim of this study is to present 4 new cases to provide information on the rare features of the disease and to raise awareness. Materials and Methods: This study included 4 female patients with prolidase deficiency. Their demographic, clinical, and immunologic characteristics were obtained from their medical records. Results: There were 4 female patients (P1-P4), with a mean age of 18.5 years (min-max: 10-29) and a mean age of symptom onset of 6.9 years (min-max: 0.04-27). The main presenting complaints of the patients were skin lesions (100%), dysmorphic features (100%), neurodevelopmental delay (100%), frequent infections (100%), and prolonged diarrhea (50%). P2 had diffuse large B-cell lymphoma, resulting in early death. Interestingly, P1 and P2 experienced opportunistic infections such as cytomegalovirus, Epstein-Barr virus, and Pneumocystis jirovecii. Three patients (75%) had lymphopenia. Two patients had elevated IgE levels. Lymphocyte subgroup analysis showed an inverted CD4/CD8 ratio in all patients. In patients P1 and P2, the percentages of naive T cells and recent thymic emigrants were reduced, suggesting combined immune deficiency at the time of diagnosis. CD19+ B cells were also low in P1 and P2. Metabolic evaluations revealed low prolidase enzyme activity in P1 and P2. Conclusion: Beyond the well-known classical dermatological findings, the presence of recurrent opportunistic infections, gastrointestinal involvement, malignancy, and flow cytometry findings suggestive of combined immunodeficiency indicate that the diagnosis of prolidase deficiency may be underestimated. Knowing the atypical and rare presentations will facilitate diagnosis and treatment of affected patients.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"48-56"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Possible Alternative in the Treatment of Obstructive Airway Disease in Pediatric Intensive Care Patients.","authors":"Nikita Muhutdinov, Varvara Muhutdinova","doi":"10.5152/TurkArchPediatr.2025.24224","DOIUrl":"10.5152/TurkArchPediatr.2025.24224","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"108-109"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology of Mucopolysaccharidosis Type II According to the Register of the Russian Federation.","authors":"Natalia V Buchinskaia, Ekaterina Yu Zakharova, Koshevaya Yulia S, Vechkasova Anastasia O, Rostislav K Skitchenko, Nikonov Aleksandr M, Vera I Kurilova, Yulia V Maximova, Khasyanya F Aksyanova, Elena G Bakulina, Nina I Kononenko, Elena V Osipova, Mikhail M Kostik, Sergei I Kutsev","doi":"10.5152/TurkArchPediatr.2025.24158","DOIUrl":"10.5152/TurkArchPediatr.2025.24158","url":null,"abstract":"<p><p>Objective: The study aimed to evaluate the epidemiological, clinical, and molecular data of mucopolysaccharidosis type II (MPS II) patients and their outcomes using the national registry of patients in the Russian Federation (RF). Materials and Methods: In the retrospective cohort study, the authors included data from the Russian national registry of MPS II. Results: The prevalence of MPS II in RF is 0.62 per 100 000 live births or 0.09 per 100 000 population with the majority of patients in the Central (n = 36) and the Volga Federal District (n = 35). Males were 157 (99.4%), positive MPS II family history had 47 (29.7%) patients. The median age of the first symptoms was 1.8 (0.8-2.6) years, ranging from 0.1 to 19 years, and the age of diagnosis was 4.0 (2.5; 5.9) years, ranging from 0.1 to 38.9 years. A genetic study was available for the analysis in 116 (73.4%) patients. Single nucleotide variants in the IDS gene were found in 98/116 (84.5%) patients, and 18 further patients (15.5%) had gross rearrangements. About 59/98 (60.2%) patients had missense, 15/98 (15.3%) had frame-shift variants, 12/98 (12.2%) had splice site, and 11/98 (11.2%) had nonsense variants. One (1.0%) patient out of 98 patients had a small deletion. Pathogenic, likely pathogenic variants, and variants with uncertain significance were found in 54 (55.1%), 36 (36.7%), and 8 (8.2%) patients, respectively. About 138 (87.3%) patients received enzyme replacement therapy. Conclusion: The prevalence of MPS II in the RF is higher than that in some European countries and closer to the Asian population. The registry is a convenient tool for disease epidemiology and monitoring.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"41-47"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736827/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973806","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Vinyl Glove Ingestion in a Child Causing Gastric Perforation: Rising Awareness.","authors":"Hayet Zitouni, Najoua Ben Kraiem, Saloua Ammar, Mahdi Ben Dhaou, Riadh Mhiri","doi":"10.5152/TurkArchPediatr.2024.24078","DOIUrl":"10.5152/TurkArchPediatr.2024.24078","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":" ","pages":"101-102"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142782043","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microbial Contamination of Nebulizers in Patients With Cystic Fibrosis.","authors":"Cansu Yilmaz Yegit, Pinar Ergenekon, Nurcan Duman, Hakan Mursaloglu, Muruvvet Cenk, Burcu Suzer Uzunoglu, Gamze Tastan, Yasemin Gokdemir, Ela Erdem Eralp, Aysegul Karahasan Yagci, Fazilet Karakoc, Bulent Karadag","doi":"10.5152/TurkArchPediatr.2025.24003","DOIUrl":"10.5152/TurkArchPediatr.2025.24003","url":null,"abstract":"<p><p>Objective: Nebulizer contamination has potential harmful effects on the respiratory system. The aim was to investigate the contamination profile of the nebulizers in cystic fibrosis patients and evaluate the relationship between hygiene practices and microbial contamination. Materials and Methods: Microbiological swab samples were taken from 3 different locations of the nebulizers of 102 patients. A questionnaire regarding nebulizer hygiene practices was applied to participants. Results: Contamination rate was 40.2%, while chambers were the most contaminated area. The bacterial contamination rate was 37.3%, with gram-negative bacterial growth being predominant. The organisms identified were mostly environmental or floral. Only 3 of the patients were performing the whole steps correctly. This number was not sufficient to assess the relationship between nebulizer cleaning and disinfection practices and microbial growth from nebulizers. When the relationship between nebulizer cleaning/disinfection frequencies, methods, and storage locations was evaluated separately with microbial growth from nebulizers, no statistically significant relationship was found for all (P > .05 for all). Conclusion: The nebulizer contamination rate with pathogenic microorganisms is low in the present study. Regular educational interventions regarding nebulizer hygiene practices should be implemented in all Cystic Fibrosis Centers.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"22-28"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of Social Determinants of Health in Childhood Epilepsy.","authors":"Prem Jareonsettasin, Josemir W Sander","doi":"10.5152/TurkArchPediatr.2025.24271","DOIUrl":"10.5152/TurkArchPediatr.2025.24271","url":null,"abstract":"<p><p>Social determinants of health (SDHs) are significant and potentially modifiable drivers of neurologic diseases, including childhood epilepsy. Social determinants of health greatly influence the epidemiology, management, and outcomes associated with these conditions. Social determinants of health affect every aspect of a family's journey with epilepsy-from initial diagnosis to accessing effective treatments and ongoing care. Despite notable advancements in understanding the genetic and molecular underpinnings of pediatric epilepsies, there remains a relative lack of knowledge about the nature and impact of SDHs on these disorders. Epilepsy is a symptom of much more profound underlying determinants of health. Addressing the broader context of epilepsy can transform health outcomes. This narrative review appraises some available evidence and explores possible solutions.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"13-21"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736830/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973872","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Biography of Prof. Dr. Albert Eckstein and His Studies in Türkiye.","authors":"Turhan Ada","doi":"10.5152/TurkArchPediatr.2024.24245","DOIUrl":"10.5152/TurkArchPediatr.2024.24245","url":null,"abstract":"<p><strong>Objective: </strong>The aim of the article is to contribute to the international academic literature within the scope of Web of Science with a comprehensive article that complies with academic criteria on Prof. Eckstein and his studies in Türkiye.</p><p><strong>Materials and methods: </strong>First, this study scans all the literature on the subject and found the necessary books and articles. It uses Prof. Baskan's archive for the photographs. We found the work of Dr. Nuriye Peker with the help of Prof. Akar. The article covers Prof. Eckstein's life and focuses on the period in Türkiye.</p><p><strong>Results: </strong>During the 1930s, a group of German medical doctors, led by German-Jewish pediatrician Prof. Eckstein, migrated to Türkiye. Prof. Eckstein initiated scientific research on children's health and healthcare in remote Anatolian regions in 1937. This approach had a profound impact on the development of healthcare systems for large population segments in developing nations such as Türkiye at that time. Prof. Eckstein and his assistants like Dr. Demirağ, Dr. Doğramacı, and Dr. Cura are regarded as the pioneers of modern Turkish healthcare and health sciences.</p><p><strong>Conclusion: </strong>Prof. Eckstein excelled as a clinician, educator, and researcher, specializing in infectious diseases, disorders of the central nervous system, the biology of premature and newborn infants, and preventive pediatric care. His work in Türkiye transformed pediatric practice and education by introducing Western medical knowledge and techniques. Eckstein's achievements include groundbreaking treatments for noma, an oral mucosa infection caused by Borrelia, and malaria.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":" ","pages":"92-98"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736893/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142815224","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characteristics of Siblings with Familial Mediterranean Fever: A Single-Center Experience.","authors":"Elif Arslanoglu Aydin, Esra Baglan, İlknur Bagrul, Sunar Yayla Emine Nur, Nesibe Gokce Kocamaz, Ozdel Semanur","doi":"10.5152/TurkArchPediatr.2025.24210","DOIUrl":"10.5152/TurkArchPediatr.2025.24210","url":null,"abstract":"<p><p>Objective: Familial Mediterranean fever (FMF) is a hereditary, autoinflammatory disease. The characteristics of siblings with FMF have not been described in large cohorts up to now. This study aimed to examine the features of siblings with FMF. Materials and Methods: This was a retrospective, cross-sectional study. Patients were divided into 2 groups according to the time of diagnosis (group I, the child diagnosed first in the family, and group II, the sibling diagnosed later). Results: A total of 143 siblings (65 families) with FMF were included in the study. Seventy-two percent of the patients had the same genetic mutation as their siblings. Despite having the same genetic mutation, 59% of the patients had different attack symptoms from their siblings. In 56% of the patients, the Pras disease severity score and in 45% of the patients, the response to colchicine treatment differed from their siblings with the same mutation. Fever and abdominal pain were statistically significantly more frequent in group I than in group II (P = .032). The age of disease onset in group I was statistically lower than in group II (P = .031). Genetic mutations, attack symptoms, and colchicine response were the same in twin pairs. The age of disease onset and age at diagnosis were also the same in half of the twin pairs. Conclusion: Parents of children diagnosed with FMF should be informed of all the symptoms of FMF disease and that siblings may present with different clinical findings.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"57-62"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736890/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Diagnosis of Congenital Cytomegalovirus in a 14-Month-Old Patient Presenting with Sensorineural Hearing Loss: Storing Dry Blood Samples.","authors":"Anıl Gök, Gökçe Cırdı, Ayfer Sakarya Güneş, Leman Tekin Orgun, Murat Sayan, Bülent Kara","doi":"10.5152/TurkArchPediatr.2025.2498","DOIUrl":"10.5152/TurkArchPediatr.2025.2498","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"106-107"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736865/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Impact of Domestic Violence and Sexual Assault on Family Dynamics and Child Development: A Comprehensive Review.","authors":"Matthias Brockstedt, Serpil Uğur Baysal, Kadir Daştan","doi":"10.5152/TurkArchPediatr.2025.24169","DOIUrl":"10.5152/TurkArchPediatr.2025.24169","url":null,"abstract":"<p><p>This review synthesizes current research on domestic violence and sexual assault, focusing on their short-term and long-term effects on family dynamics, particularly on the development and well-being of children and adolescents. The article employs a curated body of literature, including surveys, reviews, program evaluations, and international health reports, to elucidate the direct and collateral damage caused by such trauma within families. The review critically examines the intersecting consequences of abuse, including immediate psychological distress and long-term socio-economic and educational disruptions for affected youths. Additionally, the review examines structural impediments and cultural intricacies that shape reporting practices and access to support services. The role of civil legal aid and victim advocacy in promoting survivor safety and justice is discussed, supported by findings from service evaluation studies. The review also addresses the exacerbating effects of the Coronavirus pandemic on domestic violence rates and service provision, noting increased occurrences of domestic abuse and decreased pursuit of urgent care and support, highlighting research conducted from the pandemic's start through 2023. Emergent studies reveal a rise in domestic abuse occurrences and a decline in urgent care and support pursuit, emphasizing the need for adapted intervention strategies. The review offers evidence-based recommendations for policymakers, healthcare providers, and community organizations, stressing the necessity of persistent and collaborative efforts to address and prevent domestic violence. The ultimate goal is to advocate for a stronger international response to repair harm and prevent future occurrences, ensuring a safer environment for all family members, particularly children and adolescents.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"60 1","pages":"5-12"},"PeriodicalIF":1.3,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11736864/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}