Turkish archives of pediatrics最新文献

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Life-Threatening Recurrence of Paroxysmal Cold Hemoglobinuria in a Child During Influenza A Infection. 一名儿童在感染甲型流感期间再次出现危及生命的阵发性冷性血红蛋白尿。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.24067
İbrahim Cemal Maslak, Muhammed Burak Selver, Ömer Kaşkaya, Merve Bayrak Yıldırım, Ayşe Çiğdem Sivrice, Mahmut Keskin, Ebru Sagay, Ebru Yılmaz Keskin
{"title":"Life-Threatening Recurrence of Paroxysmal Cold Hemoglobinuria in a Child During Influenza A Infection.","authors":"İbrahim Cemal Maslak, Muhammed Burak Selver, Ömer Kaşkaya, Merve Bayrak Yıldırım, Ayşe Çiğdem Sivrice, Mahmut Keskin, Ebru Sagay, Ebru Yılmaz Keskin","doi":"10.5152/TurkArchPediatr.2024.24067","DOIUrl":"10.5152/TurkArchPediatr.2024.24067","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977426","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}
引用次数: 0
Revisiting Childhood-Onset Systemic Lupus Erythematosus. 重温童年发病的系统性红斑狼疮
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.24097
Pınar Özge Avar-Aydın, Hı Brunner
{"title":"Revisiting Childhood-Onset Systemic Lupus Erythematosus.","authors":"Pınar Özge Avar-Aydın, Hı Brunner","doi":"10.5152/TurkArchPediatr.2024.24097","DOIUrl":"10.5152/TurkArchPediatr.2024.24097","url":null,"abstract":"<p><p>Childhood-onset systemic lupus erythematosus (cSLE) is a chronic autoimmune disease with a multisystemic involvement diagnosed during childhood. The disease is marked by the production of autoantibodies targeting self-antigens, often before symptoms emerge. The presentation, clinical course, and outcome vary significantly among patients with cSLE. The onset of cSLE can be at any age during childhood while a diagnosis of cSLE before the age of 5 years is rare and raises a suspicion of monogenic lupus. Childhood-onset systemic lupus erythematosus affects various organs and systems, most frequently presenting with mucocutaneous, musculoskeletal, renal, and neuropsychiatric manifestations. Multiple disease flares can be seen during the disease course. Childhood-onset systemic lupus erythematosus causes significant morbidity and mortality. Children and adolescents with cSLE show higher disease activity and damage, and more aggressive immunosuppressive treatments are needed compared to adultonset SLE. Early diagnosis can be difficult due to the insidious onset with nonspecific symptoms. Disease activity and damage measures aim to ensure an accurate evaluation of disease status. A multidisciplinary approach and individualized disease management are important. Disease management is complex including the control of disease activity, the reduction of flares and damage, and a limitation of drug toxicity while improving the health-related quality of life in patients with cSLE.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332533/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141895055","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}
引用次数: 0
Factors Associated with Post-rewarming Procalcitonin Levels in Newborns with Hypoxic Ischemic Encephalopathy. 缺氧缺血性脑病新生儿退热后降钙素原水平的相关因素
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.24089
Aslı Okbay Güneş, Aydın Bozkaya, Mehmet Emin Avlanmış
{"title":"Factors Associated with Post-rewarming Procalcitonin Levels in Newborns with Hypoxic Ischemic Encephalopathy.","authors":"Aslı Okbay Güneş, Aydın Bozkaya, Mehmet Emin Avlanmış","doi":"10.5152/TurkArchPediatr.2024.24089","DOIUrl":"10.5152/TurkArchPediatr.2024.24089","url":null,"abstract":"<p><p>To determine the factors associated with the procalcitonin levels in newborns with hypoxic-ischemic encephalopathy (HIE) who received therapeutic hypothermia (TH). The neonates, who had moderate/severe HIE and were treated with TH, were included. The neonates were arranged into 2 groups by procalcitonin (PCT) level after rewarming was completed. The neonates who had a procalcitonin level of < 2.5 ng/ml constituted Group 1 and the ones who had a procalcitonin level of ≥ 2.5 ng/ml constituted Group 2. Univariate and multivariate logistic regression was used to assess the factors related with PCT level. The first group included 123 (87.9%) neonates and the second group included 17 (12.1%) neonates. The median gestational age was 38 (36-39) weeks and the mean birth weight was 3081.7 ± 552.8 grams. In group 2, the rates for severe HIE, cesarean section, antibiotic switch, convulsion, inotrope use and mortality were higher, and duration of hospitalization was longer, whereas Apgar scores were lower (P < .05). The risk of a high procalcitonin level was found to be 6-fold (95% CI 1.9-19.1) higher in severe HIE and 5.2-fold higher (95% CI 1.7-16) in cesarean delivery. In neonates with HIE/TH, high post-rewarming procalcitonin levels were related with severe HIE and cesarean delivery. Some other clinical and laboratory findings, which may reflect worse clinical status, were also associated with high procalcitonin levels.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977423","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}
引用次数: 0
Comparison of Clinical Presentations and Disease Severity of Children Hospitalized with Influenza A and B. 甲型和乙型流感住院儿童临床表现和疾病严重程度的比较
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.23286
Aykut Ekşi, Gökçen Kartal Öztürk, Candan Çiçek, Figen Gülen, Esen Demir
{"title":"Comparison of Clinical Presentations and Disease Severity of Children Hospitalized with Influenza A and B.","authors":"Aykut Ekşi, Gökçen Kartal Öztürk, Candan Çiçek, Figen Gülen, Esen Demir","doi":"10.5152/TurkArchPediatr.2024.23286","DOIUrl":"10.5152/TurkArchPediatr.2024.23286","url":null,"abstract":"<p><p>This study compared the clinical presentations and disease severity between influenza A and B (FLUA and FLUB). The study included children hospitalized with virologically confirmed influenza between 2010 and 2020. The severity of the disease was evaluated based on admission to the pediatric intensive care unit (PICU), mechanical ventilation requirement, length of hospital stay, length of stay in the PICU, and death. Influenza viruses were compared within predefined age groups (0-2, 3-9, and 10-18 years) and in all age groups. Of 343 patients, FLUA and FLUB were detected in 75.8% and 24.2% of children, respectively. FLUB was associated with a higher incidence of headache and abdominal pain (P < .001 and P = .01). Children with FLUB were prescribed antibiotics and antivirals 0.56 and 0.58- fold fewer than those with FLUA. Headache and abdominal pain rates were higher in patients between 3 and 9 years with FLUB. Children between 0 and 2 years with FLUA were more frequently admitted to the PICU than those with FLUB (23.6% vs. 4.0%; P < .004). Eight patients with FLUA died, while only 1 with FLUB died (P = .69). The clinical presentation of FLUA and FLUB appeared similar, except for headache and abdominal pain, which were more prevalent in older patients with FLUB. Our study revealed that children between 0 and 2 years with FLUA were at a significantly higher risk for admission to the PICU. As a result, greater attention and awareness should be paid to children under 2 years old with FLUA.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332444/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977421","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}
引用次数: 0
Through the Glass Ceiling: The Quest for Gender Equality in Academia. 穿越玻璃天花板:学术界对性别平等的追求》。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.28624
Tanyel Zubarioğlu
{"title":"Through the Glass Ceiling: The Quest for Gender Equality in Academia.","authors":"Tanyel Zubarioğlu","doi":"10.5152/TurkArchPediatr.2024.28624","DOIUrl":"10.5152/TurkArchPediatr.2024.28624","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332561/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977430","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}
引用次数: 0
The Correlation of Fluid Creep with Fluid and Electrolyte Imbalance In Pediatric Intensive Care Unit Dr. Cipto Mangunkusumo National Central Public Hospital. 儿科重症监护室液体蠕变与体液和电解质失衡的相关性 Cipto Mangunkusumo 博士,国立中央公立医院。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.23309
Irene Yuniar, Jojor Sihotang, Regina Suriadi, Devina June
{"title":"The Correlation of Fluid Creep with Fluid and Electrolyte Imbalance In Pediatric Intensive Care Unit Dr. Cipto Mangunkusumo National Central Public Hospital.","authors":"Irene Yuniar, Jojor Sihotang, Regina Suriadi, Devina June","doi":"10.5152/TurkArchPediatr.2024.23309","DOIUrl":"10.5152/TurkArchPediatr.2024.23309","url":null,"abstract":"<p><p>Fluid creep, used as a drug diluent can contribute to fluid and electrolyte balance. Fluid creep brings substantial volume and electrolyte load to patients, especially in critically ill children. This study is conducted to evaluate the correlation of fluid creep with fluid and electrolyte balance in critically ill children. This cross-sectional study was conducted in a single tertiary center. We include children aged 1 month- 18 years in the pediatric intensive care unit (PICU). Exclusion criteria were patients receiving renal replacement therapy and plasmapheresis. Fluids and electrolyte intake were recorded at admission and the first 24 hours in the PICU. A total of 64 patients were observed. The sources of fluid intake are 61% from parenteral, 25% from enteral nutrition, and 12% from fluid creep. There were significant correlations between the volume (r = 0.304, P = .015) and electrolyte intake (r = 0.742, P = .035) of fluid creep with daily fluid balance. There is no correlation between fluid creep and electrolyte changes in 24 hours. Fifty-two patients used WFI (81.2%) as a drug diluent. Our study showed that fluid creep constitutes 12% of daily fluid intake. There is a correlation between the volume and electrolyte intake from fluid creep to daily fluid balance, so it is important to include the volume of fluid creep in calculating the fluid balance. Thus, it is recommended to use hypotonic fluid like WFI compared to NaCl 0.9% for drug diluent.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332555/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977429","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}
引用次数: 0
Comparison of Real-time Polymerase Chain Reaction and Culture for Targeting Pathogens in Pediatric Severe Community-Acquired Pneumonia. 比较实时聚合酶链式反应和培养法,以确定小儿严重社区获得性肺炎的病原体。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.24005
Khai Quang Tran, Van Hung Pham, Chau Minh Vo, Quan Minh Pham, Phuong Minh Nguyen
{"title":"Comparison of Real-time Polymerase Chain Reaction and Culture for Targeting Pathogens in Pediatric Severe Community-Acquired Pneumonia.","authors":"Khai Quang Tran, Van Hung Pham, Chau Minh Vo, Quan Minh Pham, Phuong Minh Nguyen","doi":"10.5152/TurkArchPediatr.2024.24005","DOIUrl":"https://doi.org/10.5152/TurkArchPediatr.2024.24005","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to determine the frequency of pathogen detection by real-time polymerase chain reaction (PCR), the frequency of pathogen isolation by culture; and compare the value of real-time PCR and culture of nasopharyngeal aspiration samples in patients with severe community-acquired pneumonia (sCAP).</p><p><strong>Materials and methods: </strong>It was a prospective and descriptive study. All pediatric patients diagnosed with sCAP were performed real-time PCR and culture of nasopharyngeal aspiration samples.</p><p><strong>Results: </strong>A total of 336 patient samples were obtained from children with sCAP. Real-time PCR detected pathogens in 312 patients (92.9%), while culture isolated bacteria in 228 patients (67.9%). Coinfections were reported in 279 cases (83.0%) through real-time PCR. The frequency of agreement between culture and real-time PCR was quite high (P < .001).</p><p><strong>Conclusion: </strong>Real-time PCR demonstrated more ability for detecting microorganisms than culture. This finding highlighted the value of real-time PCR for targeting pathogens in children with sCAP, particularly in cases involving complex pathogens or those requiring timely identification.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142516809","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}
引用次数: 0
Serious Medical and Psychosocial Complications in Pregnant and Postpartum Adolescents at a Pediatric Emergency Department. 儿科急诊室中怀孕和产后青少年的严重医疗和心理并发症。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.24072
Leman Akcan Yıldız, Halise Akça, Funda Kurt, Ayla Akça Çağlar
{"title":"Serious Medical and Psychosocial Complications in Pregnant and Postpartum Adolescents at a Pediatric Emergency Department.","authors":"Leman Akcan Yıldız, Halise Akça, Funda Kurt, Ayla Akça Çağlar","doi":"10.5152/TurkArchPediatr.2024.24072","DOIUrl":"10.5152/TurkArchPediatr.2024.24072","url":null,"abstract":"<p><p>This study aimed to describe the clinical characteristics and serious medical and psychosocial complications of pregnant and postpartum adolescent patients at a pediatric emergency department (PED). Demographic and clinical data of all pregnant and postpartum adolescents who presented to the PED of a single tertiary referral hospital between January 2020 and January 2023 were collected and documented retrospectively. Twenty-seven patients with a mean age of 16.7 ± 0.8 years were included in the study. The main presenting complaints were abdominal pain (n = 9), suspicion of pregnancy (n = 5), cough, seizure, and vomiting (3 patients each). Potentially life-threatening medical complications included stroke (n = 3), placental abruption (n = 1), and carbon monoxide intoxication (n = 1). Sexual assault (n = 4), physical assault (n = 2), recurrent pregnancies (n = 5), and suicide attempts (n = 4) were serious psychological and social complications in our patient group. Pregnant and post-partum adolescents may present to PED with serious lifethreatening complications, and permanent sequelae may occur. In addition to sexual and physical violence, various psychological problems are comorbid conditions. These patients should be managed with a multidisciplinary biopsychosocial approach, and these issues considered in their acute treatment and follow-up at emergency departments.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332547/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977427","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}
引用次数: 0
Extracorporeal Membrane Oxygenation after Pediatric Cardiac Surgery: A Single-Center Experience. 小儿心脏手术后的体外膜氧合:单中心经验
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-07-01 DOI: 10.5152/TurkArchPediatr.2024.23291
Edin Botan, Ayşe Durak Aslan, Emrah Gün, Merve Havan, Nur Dikmen, Anar Gurbanov, Burak Balaban, Fevzi Kahveci, Hasan Özen, Hacer Uçmak, Özlem Selvi Can, Selen Karagözlü, Mehmet Cahit Sarıcaoğlu, Zeynep Eyileten, Tayfun Uçar, Ercan Tutar, Ahmet Rüçhan Akar, Mustafa Adnan Uysalel, Tanıl Kendirli
{"title":"Extracorporeal Membrane Oxygenation after Pediatric Cardiac Surgery: A Single-Center Experience.","authors":"Edin Botan, Ayşe Durak Aslan, Emrah Gün, Merve Havan, Nur Dikmen, Anar Gurbanov, Burak Balaban, Fevzi Kahveci, Hasan Özen, Hacer Uçmak, Özlem Selvi Can, Selen Karagözlü, Mehmet Cahit Sarıcaoğlu, Zeynep Eyileten, Tayfun Uçar, Ercan Tutar, Ahmet Rüçhan Akar, Mustafa Adnan Uysalel, Tanıl Kendirli","doi":"10.5152/TurkArchPediatr.2024.23291","DOIUrl":"10.5152/TurkArchPediatr.2024.23291","url":null,"abstract":"<p><p>Extracorporeal membrane oxygenation (ECMO) is a life-saving treatment option providing cardiopulmonary support when standard therapies prove insufficient for reversible diseases. The mean objective of this study was to evaluate our center's experience with ECMO following pediatric cardiac surgery. This retrospective study was conducted in our pediatric intensive care unit (PICU) between November 2014 and March 2021 and included patients who received ECMO following cardiac surgery. Over the 7-year period, 324 patients underwent cardiac surgery, of which 24 (7.4%) required ECMO support. Among them, 13 (54.2%) were female, with a median age of 16.0 (2.0- 208) months and a median weight of 7.0 (3.5-70) kg. The mean vasoactive inotrope score (VIS) was 53.9 ± 44.5. Atrioventricular septal defect repair was the most common surgical procedure (n = 8/24, 41.6%). The primary indication for ECMO was low cardiac output syndrome (LCOS) in 14 (58.3%) patients. The median duration of ECMO support was 6.0 (1.0-46.0) days. Nonsurvivors had significantly higher Pediatric Risk Score of Mortality (PRISM) III scores (P = .014) and VIS scores during the pre-ECMO period (P = .004). Early or late neurological complications developed in 12 (50%) patients, with significant differences in lactate levels and pH levels preECMO between those with and without neurological complications (P = .01, P = .02, respectively). We successfully decannulated 16 (66.6%) patients, with a final survival rate of 12 (50%). ECMO plays a crucial role in providing pre- and post-cardiac surgery support for children. LCOS remains the main indication, and high PRISM III and VIS scores are valuable predictors of outcomes.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141977422","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}
引用次数: 0
Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked. 菱形-黑范氏贫血症患者的相关先天畸形和身体表型可能会被忽视。
IF 1.3
Turkish archives of pediatrics Pub Date : 2024-06-17 DOI: 10.5152/TurkArchPediatr.2024.23193
Gulare Soltanova, Niham Avcu Oral, Fatma Gümrük, Pelin Özlem Şimşek Kiper, Şule Ünal
{"title":"Associated Congenital Abnormalities and Physical Phenotype in Patients with Diamond-Blackfan Anemia May Be Overlooked.","authors":"Gulare Soltanova, Niham Avcu Oral, Fatma Gümrük, Pelin Özlem Şimşek Kiper, Şule Ünal","doi":"10.5152/TurkArchPediatr.2024.23193","DOIUrl":"10.5152/TurkArchPediatr.2024.23193","url":null,"abstract":"<p><p>Diamond-Blackfan anemia (DBA) is a rare and inherited form of erythroid aplasia, characterized by severe macrocytic anemia, congenital malformations, and predisposition to cancer. The purpose of this study is to determine the congenital abnormalities and dysmorphological features of DBA patients in a cross-sectional manner. The study group included patients who had diagnosis of DBA between 1983 and 2017. Dysmorphological examinations of the patients were performed by an experienced dysmorphologist and also echocardiography and abdominal ultrasonography were performed in order to figure out cardiac and urogenital abnormalities. A total of 45 patients were examined in this study. Dysmorphological examination, echocardiography, and abdominal ultrasonography revealed the rate of congenital abnormalities as high as 88.7%. In consideration of the congenital abnormalities, the most common findings were craniofacial, followed by skeletal abnormalities. The rate of anomalies was found higher in our series of patients than that have been previously reported, most probably due to the evaluations being performed by a dysmorphologist in our cohort and not only depending on patient records or hematologists' physical examination.</p>","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":null,"pages":null},"PeriodicalIF":1.3,"publicationDate":"2024-06-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11332566/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141899145","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}
引用次数: 0
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