Turkish Journal of Pediatric Disease最新文献

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Overview of Skeletal Dysplasias 骨骼发育不良概述
Turkish Journal of Pediatric Disease Pub Date : 2024-01-02 DOI: 10.12956/tchd.1380641
Tuğba Daşar, Esra Kılıç
{"title":"Overview of Skeletal Dysplasias","authors":"Tuğba Daşar, Esra Kılıç","doi":"10.12956/tchd.1380641","DOIUrl":"https://doi.org/10.12956/tchd.1380641","url":null,"abstract":"Skeletal dysplasias are quite a heterogeneous group of disorders, characterized by bone and cartilage abnormalities. Although each of them is individually rare, collectively the birth incidence is approximately 1 in 5000 live births. Due to the clinical heterogeneity, patients with skeletal dysplasias can apply to different departments with many different complaints or even lethal in the perinatal period. The establishment of a precise diagnosis provide proper clinical management of the patient, and a confirmed molecular diagnosis can prevent the recurrence of the disorder in the next generations. However, determining a spesific diagnosis is not always easy, yet a multisystemic, comprehensive, and stepwise approach to the patients with skeletal dysplasias, at least allows clinicians to classify into a specific group. In this review, general approach to patients with skeletal dysplasias, and some of the clinical and radiographic clues helpful in the diagnostic process are briefly summarized.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"135 51","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139453032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of lockdown and visiting restrictions for COVID-19 on breast milk and short-term morbidities in a tertiary neonatal intensive care unit in Turkey 在土耳其的一家三级新生儿重症监护病房,COVID-19 的封锁和探视限制对母乳和短期发病率的影响
Turkish Journal of Pediatric Disease Pub Date : 2023-11-20 DOI: 10.12956/tchd.1337561
İstemi Han Çeli̇k, Mehtap DURUKAN TOSUN, S. E. Uzlu, A. Baş, N. Demirel
{"title":"Impact of lockdown and visiting restrictions for COVID-19 on breast milk and short-term morbidities in a tertiary neonatal intensive care unit in Turkey","authors":"İstemi Han Çeli̇k, Mehtap DURUKAN TOSUN, S. E. Uzlu, A. Baş, N. Demirel","doi":"10.12956/tchd.1337561","DOIUrl":"https://doi.org/10.12956/tchd.1337561","url":null,"abstract":"Objective: In the COVID-19 pandemic era, visiting restrictions and lockdown measures have been leaded to serious concerns in breastfeeding and maternal-infant interaction. We aimed to evaluate the effects of visiting restrictions as no physical visits allowed period (March 13th and June 20th, 2020) on feeding with breast milk, breastfeeding and associated morbidities. Material and Methods: Neonates admitted to neonatal intensive care unit in pre-COVID-19 pandemic and during strict visiting restrictions constituted control and study groups. Results: Study and control groups included 197 and 193 mother-baby dyads. Study group had insignificant lower gestational age, birthweight and higher prematurity rate. Median first enteral feeding and first breast milk days were similar. First enteral feeding with breast milk was insignificantly higher in control group. Median breast milk percentage at full enteral feeding (FEF) did not differ. Median time of FEF, FEF with only breast milk and intravenous fluid duration were higher in study group (p<0.050). Full enteral feeding with breast milk during NICU stay was less in study group (78.1 vs 87%, p<0.050) while at discharge there was no difference (78.1% vs 81.3%). Feeding intolerance was insignificantly higher in study group (23.8% vs 14.6%). Median duration of NICU stay was higher in study group but not significant (13.5 vs 12 d, p>0.050). Conclusion: No visits allowed period leaded to impaired breastfeeding, breast milk supply and associated morbidities. Parents should be informed about breastfeeding and breast milk in prenatal period, after birth and during NICU stay in COVID-19 era as before and precautions should be taken.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"5 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139255182","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Musculoskeletal Involvement in Pediatric Behçet's Disease: A Single Center Experience 儿童behaperet病的肌肉骨骼参与:单一中心经验
Turkish Journal of Pediatric Disease Pub Date : 2023-08-03 DOI: 10.12956/tchd.1312002
Serkan Coşkun, Z. Ekici Tekin, E. Çelikel, Vildan Güngörer, Nilüfer Tekgöz, Müge Sezer, Cüneyt Karagöl, M. Kaplan, Nimet Öner, M. C. Polat, B. Acar
{"title":"Musculoskeletal Involvement in Pediatric Behçet's Disease: A Single Center Experience","authors":"Serkan Coşkun, Z. Ekici Tekin, E. Çelikel, Vildan Güngörer, Nilüfer Tekgöz, Müge Sezer, Cüneyt Karagöl, M. Kaplan, Nimet Öner, M. C. Polat, B. Acar","doi":"10.12956/tchd.1312002","DOIUrl":"https://doi.org/10.12956/tchd.1312002","url":null,"abstract":"Background: Behçet’s disease (BD) is an inflammatory disease characterized by recurrent oral ulcers, genital ulcers, ocular manifestations, and vascular involvement. Musculoskeletal symptoms are common both at the time of presentation and throughout the course of BD, and similar symptoms are also observed in pediatric Behçet’s disease (PEDBD). This study aims to report the frequency and role of musculoskeletal involvement in PEDBD followed by our clinic. Method: This retrospective medical record review included a total of 90 patients diagnosed with PEDBD before the age of 16 years between January 2010 and December 2022. \u0000Results: Of the patients, 48 (53.3%) were female and 42 (46.7%) were male. Their mean age at diagnosis was 12.4 years. All patients (100%) had recurrent oral ulcers, while 55 (61.1%) had genital ulcers, 44 (48.9%) had musculoskeletal involvement, 37 (41.1%) had skin manifestations, 19 (21.1%) had ocular involvement, 17 (18.9%) had neurological involvement, and 17 (18.9%) had vascular involvement. Among the patients with joint involvement, 27 (65.9%) had arthritis, 41 (100%) had arthralgia, 37 (90.1%) had oligoarticular joint involvement, and 29 (70.7%) had unilateral involvement. The most commonly affected joints in the patients was in the knee (63.4%), followed by the ankle (31.7%), the wrist (19.5%), sacroiliac joints (14.6%), the hands (12.2%), the elbow (9.8%), and the feet (4.9%). Conclusions: Musculoskeletal symptoms are common in PEDBD and can be observed as an early sign of the disease at the time of diagnosis. Therefore, it is important to thoroughly inquire about possible BD in children with musculoskeletal symptoms.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125392619","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
COVID 19 Patients Who Applied To Our Pediatric Emergency Department 申请我们儿科急诊科的COVID - 19患者
Turkish Journal of Pediatric Disease Pub Date : 2023-07-25 DOI: 10.12956/tchd.1251721
İlknur Fi̇danci, M. Taşar, B. C. Cura Yayla, K. Aykac, Bahar Akıntuğ, Mustafa Berkay Kiliç, Gökçe Işcan
{"title":"COVID 19 Patients Who Applied To Our Pediatric Emergency Department","authors":"İlknur Fi̇danci, M. Taşar, B. C. Cura Yayla, K. Aykac, Bahar Akıntuğ, Mustafa Berkay Kiliç, Gökçe Işcan","doi":"10.12956/tchd.1251721","DOIUrl":"https://doi.org/10.12956/tchd.1251721","url":null,"abstract":"Objective: We aimed to evaluate COVID 19 PCR test positive patients who admitted to our Pediatric Emergency Department, together with their admission symptoms, clinical, laboratory and radiological findings.\u0000Method: The study was conducted in patients admitted to Pediatric Emergency Department between March 2020 and January 2021. SPSS 26 V was used in the analysis of the data.\u0000Results: 1007 COVID 19 PCR + patients were included in the study. Of these, 512 (50.8%) were female, 495 (49.2%) were male, and the median age was 171 months (min-max: 2-226). In the disease classification of patients, 818 (81%) patients were asymptomatic. The most common symptoms were fever (45.6%), cough (38.3%) and sore throat (26.7%). According to age groups, fever (p<0.01), vomiting and diarrhea (p=0.010) were significantly higher in the group over 120 months of age.Chest X-ray was taken in 74.3% of the patients, 1.06% of them were evaluated as abnormal. This situation was seen more in the moderate group (p<0.01). CRP elevation was the most common laboratory finding in 28.9% of patients, leukopenia in 38.5%, and lymphopenia in 25.2% of patients. CRP, procalcitonin and troponin values were higher in the severe group (p<0.019; p<0.003, p<0.013). 10.3% of the patients received inpatient treatment. \u0000Conclusion: Although COVID 19 progresses with asymptomatic and mild symptoms in children, it should be borne in mind that in rare cases, there may be severe course and death. It is important to detect asymptomatic cases in terms of transmission, especially to protect the elderly and adults with underlying disease.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126214490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Children with special educational needs and parental burnout during the pandemic lockdown period 在大流行封锁期间,有特殊教育需要的儿童和父母的倦怠
Turkish Journal of Pediatric Disease Pub Date : 2023-07-21 DOI: 10.12956/tchd.1317146
İrem Damla Çi̇men, Z. Yeği̇n, Ahmet Sefa Gümüşsoy, Tuğçe Kapucu
{"title":"Children with special educational needs and parental burnout during the pandemic lockdown period","authors":"İrem Damla Çi̇men, Z. Yeği̇n, Ahmet Sefa Gümüşsoy, Tuğçe Kapucu","doi":"10.12956/tchd.1317146","DOIUrl":"https://doi.org/10.12956/tchd.1317146","url":null,"abstract":"Objective: This study aimed to investigate whether children with special needs and their parents had problems with special education needs during the lockdown, and to examine the relationship between the special education process and the parent-child relationship, the level of burnout of parents. \u0000Material and Methods: Our study included 283 parents with children registered to a special education and rehabilitation centers in Kocaeli province of Turkey during the 2020-2021 academic year. Sociodemographic data form, Maslach Burnout Inventory and Parent-Child Relationship Scale were given to parents. \u0000Results: Burnout of the parents with children with autism spectrum disorder is at a higher level. The development of the children with parents who had high burnout scores regressed. The progress in the development of children whose mothers were employed, whose parents did not work from home, whose family's monthly income was 4501 TL and above, and who received special education for 0-24 months until the restriction period of the pandemic was reported as better by the parents. Parents with children aged 11-below have more positive relationship with their children. \u0000Conclusion: Our study demonstrated that the closure of special education may play a role in increased burnout and negatively affected children and parents. Monitoring the development process of children and the mood of parents during pandemics or other situations that lead to the closure of special education centres will be important to identify the problem areas and prepare support programmes.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"94 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128475288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ektodermal Displazili Çocuk Hastaların Protetik Tedavisi: İki Olgu Raporu
Turkish Journal of Pediatric Disease Pub Date : 2023-07-21 DOI: 10.12956/tchd.1307816
Arif Bolaca, Melih İlhan Demi̇rci̇ler, Aylin GÜLTEKİN KURU
{"title":"Ektodermal Displazili Çocuk Hastaların Protetik Tedavisi: İki Olgu Raporu","authors":"Arif Bolaca, Melih İlhan Demi̇rci̇ler, Aylin GÜLTEKİN KURU","doi":"10.12956/tchd.1307816","DOIUrl":"https://doi.org/10.12956/tchd.1307816","url":null,"abstract":"Ectodermal dysplasia (ED) is a hereditary disorder characterized by anomalies in the ectodermal structures. The most common dental anomalies are oligodontia and/or anodontia of the primary and permanent dentition. Therefore, pediatric patients with ED may be need prosthetic rehabilitations. Several prosthodontics treatment options, such as complete, removable partial, over-denture, fixed and implant-supported dentures are avaible to rehabilate patients with ED. The aim of this clinical case report is to present the clinical characteristics and prosthetic treatment of two cases with ED.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"25 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"115169705","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Laparoscopic Pediatric Inguinal Hernia Repair with Percutaneous İnternal Ring Suturing with Finer Needle and Suture; A 5-Year Experience of A Single Surgeon 腹腔镜下小儿腹股沟疝经皮İnternal细针环缝合术一位外科医生的5年经验
Turkish Journal of Pediatric Disease Pub Date : 2023-07-19 DOI: 10.12956/tchd.1308995
Aybegum KALYONCU AYÇENK
{"title":"Laparoscopic Pediatric Inguinal Hernia Repair with Percutaneous İnternal Ring Suturing with Finer Needle and Suture; A 5-Year Experience of A Single Surgeon","authors":"Aybegum KALYONCU AYÇENK","doi":"10.12956/tchd.1308995","DOIUrl":"https://doi.org/10.12956/tchd.1308995","url":null,"abstract":"Introduction: Percutaneous internal ring suturing (PIRS) method is an effective minimally invasive laparoscopic method that was preferred for indirect hernia repair in children.\u0000Purpose: The aim of this study is to report the evaluation of surgical results in our PIRS series modified with finer needle and suture with the diagnosis of indirect inguinal hernia, communicating hydrocele and incarcerated inguinal hernia.\u0000Methods: This was a retrospective study that included children aged 3 months to 12 years who underwent PIRS technique due to inguinal hernia between 2017 and 2022. Per-operative findings, surgical time, follow-up findings, complications, and recurrence data were evaluated.\u0000Results: One hundred patients underwent a total of 129 PIRS procedures. Right inguinal hernias were diagnosed in 63 (63%) of the patients (1 communicating hydrocele and 1 recurrent inguinal hernia). One communicating hydrocele and one recurrent inguinal hernia were present on the left side of 32 (32%) patients. Five patients were diagnosed bilaterally (one incarcerated hernia). 24 patients (29%) with no symptoms were found to have contralateral hernias: 11 on the right (45%) and 13 on the left (55%) side. The average duration of surgery for unilateral PIRS was 13.5 minutes and bilateral PIRS was 24.3 minutes. Average follow-up duration was nine months. There were complications in nine patients (9%). Recurrence was observed in 3 (or 3%) of 100 (or 100) patients.\u0000Conclusion: PIRS is a simple and safe alternative to open hernia repair in terms of surgical outcomes for the management of inguinal hernia in children.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128491930","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Lenfoma ve Solid Tümörlü Çocuklarda Febril Nötropenide Sefaperazon-Sulbaktam Monoterapisinin Etkinliği
Turkish Journal of Pediatric Disease Pub Date : 2023-07-17 DOI: 10.12956/tchd.1312546
İnci ERGÜRHAN İLHAN, Selma Çakmakci, Meriç KAYMAK CİHAN, Turan Bayhan, N. Sari
{"title":"Lenfoma ve Solid Tümörlü Çocuklarda Febril Nötropenide Sefaperazon-Sulbaktam Monoterapisinin Etkinliği","authors":"İnci ERGÜRHAN İLHAN, Selma Çakmakci, Meriç KAYMAK CİHAN, Turan Bayhan, N. Sari","doi":"10.12956/tchd.1312546","DOIUrl":"https://doi.org/10.12956/tchd.1312546","url":null,"abstract":"Objective: Monotherapy with a beta lactam or a cephalosporin has become the standard of care for the treatment of febrile neutropenia (FEN). We aimed to evaluate the efficacy of cefoperazone/sulbactam (CS) as empirical monotherapy for febrile neutropenia in children with solid tumors and lymphomas.\u0000\u0000Material and Methods: Children with FEN received cefaperazone-sulbactam (80 mg/kg/day, every 8 hours). Treatment responses (a) successful, complete resolution of all signs and symptoms of infection at 72 hours and after 7 days of CS treatment; (b) success with modification, change of therapy for viral, parasitic or fungal infection or addition of glycopeptides; (c) failure was defined as the emergence of a new or resistant infection, treatment-resistant bacteremia, the need to switch to carbapenems. \u0000\u0000Results: Our study included 157 patients and 350 febrile neutropenia episodes. The most common diagnoses were osteosarcoma (35%), Ewing sarcoma (30%), non-hodgkin lymphoma (13%) and rhabdomyosarcoma (9%), respectively. The origin of fever could not be determined in 223 (64%) of FEN episodes, 79 (22%) had microbiologically documented infection (MDI), and 48 (14%) had clinically documented infection (CDI). The success rate was 65% (229), the success rate with modification was 9% (31) and the failure rate was 26% (90). SC monotherapy was successful in 33% of attacks with MDI and in 60% of attacks with CDI. However, SC monotherapy was successful in 82% of febrile episodes of unknown origin.\u0000\u0000Conclusion: Cefoperazone/sulbactam is effective and safe in febrile neutropenic children with solid tumors and lymphomas for monotherapy.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"100 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"131538071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Çocuklarda Plevral Ampiyemde Video Yardımlı Torakoskopik Dekortikasyonun Sonuçları
Turkish Journal of Pediatric Disease Pub Date : 2023-07-12 DOI: 10.12956/tchd.1294886
Ufuk Ateş, Ergun Ergün, Anar Qurbanov, Pari Khali̇lova, Sümeyye Sözduyar, Ergin Çiftçi, Halil Özdemir, Gül Arga, Hatice Kübra Konca, Emrah Gun, Tanıl Kendirli, M. Koloğlu, Aydın Yağmurlu, Ahmet Çakmak, Gülnur GÖLLÜ BAHADIR
{"title":"Çocuklarda Plevral Ampiyemde Video Yardımlı Torakoskopik Dekortikasyonun Sonuçları","authors":"Ufuk Ateş, Ergun Ergün, Anar Qurbanov, Pari Khali̇lova, Sümeyye Sözduyar, Ergin Çiftçi, Halil Özdemir, Gül Arga, Hatice Kübra Konca, Emrah Gun, Tanıl Kendirli, M. Koloğlu, Aydın Yağmurlu, Ahmet Çakmak, Gülnur GÖLLÜ BAHADIR","doi":"10.12956/tchd.1294886","DOIUrl":"https://doi.org/10.12956/tchd.1294886","url":null,"abstract":"Objectives: The aim of this study is to determine efficacy, safety, and feasibility of video-assisted thoracoscopic surgery (VATS) in childhood empyema with two port technique.\u0000\u0000Materials and Methods: 34 patients under 17 years of age were included to the study. Demographic and clinical data of the patients were recorded retrospectively.\u0000\u0000Results: 34 patients under 17 years of age were included in the study. The first time the complaints started was 12 days. VATS was performed on mean 12 (2-46) days after the complaints of the patients started. The empyemas were in right hemithorax in 21 children and left in 11. Two patients underwent bilateral decortication Mean of chest tube removal time was 9.70 (2-26) days. While the postoperative stay was 23.50 (4-120) days, the total hospital stay was 32.50 (7-142) days. Emphysema developed in 7 patients in the following period. Chest tube revision was performed in a patient. Emphysema spontaneously regressed at follow-up in 6 patients. Two children had died due to 1- arrest and 2 – after liver transplant.\u0000\u0000Conclusion: VATS is a feasible method with good results pleural empyema in children. The results are satisfactory in the early or late period of disease.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128799953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri
Turkish Journal of Pediatric Disease Pub Date : 2023-07-11 DOI: 10.12956/tchd.1275274
Nejmiye Akkuş, Pelin ÖZYAVUZ ÇUBUK
{"title":"Dört Aileden Pelizaeus-Merzbacher Sendromlu Altı Hastanın Klinik ve Moleküler Sitogenetik Analizleri","authors":"Nejmiye Akkuş, Pelin ÖZYAVUZ ÇUBUK","doi":"10.12956/tchd.1275274","DOIUrl":"https://doi.org/10.12956/tchd.1275274","url":null,"abstract":"Objective: Pelizaeus-Merzbacher Disease is a rare X-linked recessive leukodystrophy caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. PMD is an early-onset neurological disorder characterized by nystagmus, spastic quadriplegia, ataxia, and developmental delay. Genetic analysis has identified Xq22 microduplications (60-70%), point mutations (10–25%), and deletions (5-10%) within the coding region of the PLP genes in Pelizaeus-Merzbacher Disease. This study evaluated six patients with PLP1 deletion and duplication in four Turkish families. \u0000\u0000Material and Methods: To detect the duplication and deletion of PLP1, chromosomal microarray analysis, and multiplex ligation-related probe amplification assays were performed. \u0000\u0000Results: In these four families, two brothers had a hemizygous deletion in the PLP1 gene, their carrier mother had a deletion in the PLP1 gene, and another two unrelated boys and one girl had duplication of the PLP1. Also, we identified the rare case of two brother patients who were found to have a hemizygous deletion in the PLP1 gene. Their carrier mother had unexplained dementia. \u0000\u0000Conclusion: Genotype-phenotype correlations of the PLP1 mutation in these families were identified in this study while trying to elucidate the genetic etiology of six individuals from four different families.","PeriodicalId":246612,"journal":{"name":"Turkish Journal of Pediatric Disease","volume":"34 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"133487462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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