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Familial Mediterranean Fever in Childhood. 儿童家族性地中海热
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24188
Rabia Miray Kisla Ekinci, Elif Kilic Konte, Nergis Akay, Umit Gul

Familial Mediterranean fever (FMF) is the most prevalent monogenic autoinflammatory disorder, characterized by recurrent fever and serositis. It primarily affects individuals of Mediterranean descent, including Arabs, Armenians, Turks, and Jews. The Mediterranean fever (MEFV) gene, responsible for FMF, was discovered in 1997. Biallelic pathogenic variants lead to excessive activation of the pyrin inflammasome, resulting in inflammation. Clinical manifestations include recurrent fever, abdominal pain, and joint involvement, with attacks typically lasting 12-72 hours. Diagnosis relies on clinical criteria and is supported by genetic testing. Colchicine is the primary treatment to reduce attack frequency and prevent the complications like renal amyloidosis. Despite advancements in understanding FMF, including its genetic basis and treatment options, challenges remain in distinguishing it from other autoinflammatory diseases. Co-existing conditions such as juvenile idiopathic arthritis and inflammatory bowel disease are common among FMF patients. Ongoing research should aim to clarify the development of the disease, enhance diagnostic accuracy, and address its clinical presentation and genetic variability, with a focus on identifying new genetic mutations and epigenetic factors that contribute to its pathogenesis.

家族性地中海热(FMF)是最常见的单基因自身炎症性疾病,以反复发热和血清炎为特征。它主要影响地中海后裔,包括阿拉伯人、亚美尼亚人、土耳其人和犹太人。导致 FMF 的地中海热(MEFV)基因于 1997 年被发现。双倍拷贝致病变体会导致吡咯啉炎症小体过度激活,从而引发炎症。临床表现包括反复发热、腹痛和关节受累,发作一般持续 12-72 小时。诊断依据临床标准,并辅以基因检测。秋水仙碱是主要的治疗药物,可减少发作频率,预防肾淀粉样变性等并发症。尽管人们对 FMF 的认识(包括其遗传基础和治疗方案)有所进步,但在将其与其他自身炎症性疾病区分开来方面仍存在挑战。幼年特发性关节炎和炎症性肠病等并存疾病在 FMF 患者中很常见。正在进行的研究应旨在阐明该疾病的发展过程,提高诊断的准确性,并解决其临床表现和遗传变异问题,重点是确定导致其发病机制的新基因突变和表观遗传因素。
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引用次数: 0
The Relationship between the Improvement Level in Blood Gas Parameters in Time and Brain MRI Findings in Newborns with the Diagnosis of Hypoxic Ischemic Encephalopathy. 诊断为缺氧缺血性脑病的新生儿血气参数随时间的改善程度与脑磁共振成像结果之间的关系
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24152
Aslan Yilmaz, Abdulkerim Uygur, Barıs Celik, Ali Metin Akdag, Demet Baser, Sureyya Ipek Ozturk

Objective: In this study, we aimed to evaluate the relationship between the level of improvement in blood gas parameters in the first hours of age and normal and diffusion-restriction brain magnetic resonance imaging (MRI).

Materials and methods: The study is a retrospective cohort study. Cases of the diagnosis of hypoxic-ischemic encephalopathy (HIE) who received therapeutic hypothermia in our unit between January 2022 and January 2024 were included in the study. Clinical findings, blood gas values (first, cord; second, first hours of age; third, 24th hour of age), and MRI results were recorded from the case files and compared between normal and diffusion-restricted brain MRI groups.

Results: Diffusion-restricted brain MRI was detected in 10 out of a total of 19 cases. The 5-minute Apgar score was lower (p=0.038) and mechanical ventilator support was higher (P=.003) in the diffusion-restricted MRI group than in the normal MRI group. The relationship was shown between high base excess (P=.022) in cord blood gas, low HCO₃ (p=0.025) in the 24th hour blood gas, and convulsion (P=.033) in the diffusion-restricted MRI group. Additionally, it was found that only the improvement level of the pH value in the first hour of age was significant (P=.025) in the diffusion-restricted brain MRI group than in the normal MRI group.

Conclusion: We showed that there was a relationship between diffusion-restricted brain MRI and the improvement level in the pH value in the first hours of age of patients diagnosed with HIE who received treatment for therapeutic hypothermia.

研究目的在这项研究中,我们旨在评估婴儿出生后数小时内血气参数的改善程度与正常脑磁共振成像(MRI)和弥散收缩脑磁共振成像(MRI)之间的关系:本研究为回顾性队列研究。研究纳入了 2022 年 1 月至 2024 年 1 月期间在我科接受治疗性低温的缺氧缺血性脑病(HIE)诊断病例。病例档案中记录了临床表现、血气值(第一组,脐带;第二组,出生后第一小时;第三组,出生后第24小时)和核磁共振成像结果,并对正常组和弥散受限脑核磁共振成像组进行了比较:结果:在总共 19 个病例中,有 10 个病例被检测出脑核磁共振成像弥散受限。与正常磁共振成像组相比,弥散受限磁共振成像组的 5 分钟 Apgar 评分更低(P=0.038),机械呼吸机支持率更高(P=0.003)。弥散受限磁共振成像组的脐带血气中碱基过多(P=.022)、24 小时血气中 HCO₃过低(P=0.025)和抽搐(P=.033)之间存在关系。此外,研究还发现,与正常核磁共振成像组相比,只有弥散受限脑核磁共振成像组在第一小时的 pH 值改善水平显著(P=.025):结论:我们的研究表明,弥散受限脑磁共振成像与接受治疗性低温的HIE患者出生后最初几小时pH值的改善程度存在关系。
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引用次数: 0
Diagnostic Utility of Diffusion-Weighted Imaging in Distinguishing Common Pediatric Posterior Fossa Tumors: A Single Center Retrospective Study. 弥散加权成像在区分常见小儿后窝肿瘤中的诊断效用:单中心回顾性研究
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24154
Umur Anil Pehlivan, Elif Habibe Aktekin, Cigdem Yalcin, Bermal Hasbay, Aylin Gunesli, Ozlem Alkan

Objective: Pediatric posterior fossa tumors pose diagnostic challenges due to their diverse histopathological features and variable clinical presentations. Conventional magnetic resonance imaging (MRI) serves as the initial diagnostic tool; however, additional modalities, such as diffusion-weighted imaging (DWI), are essential for refining tumor classification. This retrospective single-center study aimed to evaluate the diagnostic utility of apparent diffusion coefficient (ADC) parameters in distinguishing between the most common pediatric posterior fossa tumors.

Materials and methods: Fifty-nine patients under the age of 18 (27 females and 32 males) with histopathologically diagnosed primary posterior fossa tumors underwent pre-treatment conventional and diffusion MRI. Apparent diffusion coefficient values were measured from solid tumor regions and normal cerebellar parenchyma, with subsequent calculation of tumor/normal cerebellar ADC ratios.

Results: The median ADC values for pilocytic astrocytomas (PAs) were 1786.2 × 10-6 mm2 /s, ependymomas 1144.9 × 10-6 mm2 /s, and for medulloblastomas 666.1 × 10-6 mm2 /s were significantly different (P < .001 for all three). Similarly, the median ADC ratios demonstrated discriminatory potential, with PAs showing the highest ratio (2.46), followed by ependymomas (1.55) and medulloblastomas (0.89) (P < .001 for all three). Receiver operating characteristic analysis revealed distinct ADC cutoffs and ratios for differentiating all tumor types from each other.

Conclusion: Despite limitations, such as a small cohort size and different MRI protocols, our results show that ADC metrics are especially useful for distinguishing between the most common pediatric posterior fossa tumors. We recommend that future studies integrate advanced imaging techniques and larger cohorts to improve diagnostic accuracy.

目的:小儿后窝肿瘤具有多种组织病理学特征和多变的临床表现,给诊断带来了挑战。传统的磁共振成像(MRI)可作为初步诊断工具;然而,弥散加权成像(DWI)等其他模式对于完善肿瘤分类至关重要。这项回顾性单中心研究旨在评估表观弥散系数(ADC)参数在区分最常见的儿科后窝肿瘤方面的诊断效用:59名18岁以下、经组织病理学诊断为原发性后窝肿瘤的患者(27名女性和32名男性)接受了治疗前常规和弥散磁共振成像检查。测量实体瘤区和正常小脑实质的表观扩散系数值,然后计算肿瘤/正常小脑的ADC比值:结果表明:髓细胞星形细胞瘤(PAs)的中位 ADC 值为 1786.2 × 10-6 mm2 /s,外胚叶瘤为 1144.9 × 10-6 mm2 /s,髓母细胞瘤为 666.1 × 10-6 mm2 /s,三者有显著差异(P < .001)。同样,中位 ADC 比值也显示出鉴别潜力,其中 PA 的比值最高(2.46),其次是外胚叶瘤(1.55)和髓母细胞瘤(0.89)(三者的 P 均<0.001)。接收者操作特征分析表明,ADC临界值和比率在区分所有肿瘤类型方面都有不同:尽管存在队列规模小和磁共振成像方案不同等局限性,但我们的研究结果表明,ADC指标对区分最常见的儿科后窝肿瘤特别有用。我们建议未来的研究结合先进的成像技术和更大规模的队列,以提高诊断的准确性。
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引用次数: 0
Clinical Presentation of Cat Scratch Disease in Pediatric Patients-A Single-Center Study. 小儿猫抓病的临床表现--一项单中心研究
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24032
Sevliya Öcal-Demir, Kaan Kahraman, Gülçin Bozbeyoğlu, Fehim Esen

Objective: Cat scratch disease (CSD) is the infectious disease caused by Bartonella henselae. Its typical presentation is regional lymphadenopathy. Also it may present with symptoms related to involved organs or disseminated disease with fever of unknown origin (FUO). Here children with CSD are evaluated to increase awareness about disease.

Materials and methods: A total of 29 children diagnosed with CSD between 2019 and 2022 were involved in the study. Patients' demographic characteristics, clinical, laboratory and radiological findings, treatments, and outcomes were analyzed.

Results: Seventeen of the patients were male, 12 were female, and their mean age was 116.5 ± 51 months. About 69.6% of them had a history of cat contact. Twenty-seven patient (93.1%) had lymphadenopathy, mostly axillary involved (61.5%). Other manifestations were disseminated disease presented with FUO, neuroretinitis, and encephalopathy. Twenty-seven patients (93.1%) had received antibiotics before admission without any improvement. Ultrasound showed that the affected lymph nodes were conglomerated, lobulated contoured, and cortical thickened, with one-third having cystic suppurative components. Serologic tests were positive in 24 of 27 patients. Twenty-one patients gave response to 5 days azithromycin treatment, in 8 patients this treatment extended to 10-14 days, rifampicin with/without doxycycline was given to 6 patients, and steroids were given to 3 patients.

Conclusion: In case of regional lymphadenopathy, especially axillary, not responding to nonspecific antibiotics CSD should be suspected. Cat contact history and serological and ultrasonographic findings are useful for diagnosis. Even if CSD responds well to azithromycin, sometimes prolongation of azithromycin and addition of other antibiotic or steroid may be required.

目的:猫抓病(CSD)是由河南巴顿氏菌引起的传染病。其典型表现为区域性淋巴结肿大。此外,还可能出现与受累器官相关的症状或伴有不明原因发热(FUO)的播散性疾病。在此,我们对患有 CSD 的儿童进行了评估,以提高人们对该疾病的认识:本研究共涉及 29 名在 2019 年至 2022 年期间确诊为 CSD 的儿童。研究分析了患者的人口统计学特征、临床、实验室和放射学检查结果、治疗方法和结果:其中17名患者为男性,12名患者为女性,平均年龄为(116.5±51)个月。其中约 69.6% 的患者有猫接触史。27名患者(93.1%)出现淋巴结病变,大部分累及腋窝(61.5%)。其他表现为FUO、神经视网膜炎和脑病等播散性疾病。27名患者(93.1%)在入院前接受了抗生素治疗,但病情未见好转。超声波检查显示,受影响的淋巴结呈团块状、分叶状轮廓和皮质增厚,其中三分之一有囊性化脓成分。27 名患者中有 24 人的血清学检测呈阳性。21名患者接受了为期5天的阿奇霉素治疗,8名患者的治疗延长至10-14天,6名患者接受了利福平联合/不联合强力霉素治疗,3名患者接受了类固醇治疗:结论:如果出现区域性淋巴结病,尤其是腋窝淋巴结病,且对非特异性抗生素无效,则应怀疑 CSD。猫接触史、血清学和超声波检查结果有助于诊断。即使 CSD 对阿奇霉素反应良好,有时也需要延长阿奇霉素的使用时间,并添加其他抗生素或类固醇。
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引用次数: 0
Call for Fair Access to Continuous Glucose Monitoring Systems in Türkiye. 呼吁在土耳其公平使用持续葡萄糖监测系统。
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24136
Sukru Hatun, Gul Yesiltepe Mutlu
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引用次数: 0
Abdominal Lymphatic Malformation Misdiagnosed as Ascites: A Case Report and Review of Literature. 被误诊为腹水的腹腔淋巴畸形:病例报告和文献综述。
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24096
Shohreh Maleknejad, Amir Pirooz, Bahram Darbandi, Nasrin Sedighi-Pirsaraei, Amirhossein Tamimi, Kosar Namakin, Atena Tamimi, Naser Dehghani
{"title":"Abdominal Lymphatic Malformation Misdiagnosed as Ascites: A Case Report and Review of Literature.","authors":"Shohreh Maleknejad, Amir Pirooz, Bahram Darbandi, Nasrin Sedighi-Pirsaraei, Amirhossein Tamimi, Kosar Namakin, Atena Tamimi, Naser Dehghani","doi":"10.5152/TurkArchPediatr.2024.24096","DOIUrl":"10.5152/TurkArchPediatr.2024.24096","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"591-594"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562616/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634589","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
An Unusual Initial Presentation of Temporal Bone Ewing's Sarcoma: Cranial Nerve Palsy. 颞骨尤文氏肉瘤不寻常的初始表现:颅神经麻痹
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24059
Abdullah Ağın, Ata Baytaroglu, Irem Koc, Hande Taylan Sekeroglu
{"title":"An Unusual Initial Presentation of Temporal Bone Ewing's Sarcoma: Cranial Nerve Palsy.","authors":"Abdullah Ağın, Ata Baytaroglu, Irem Koc, Hande Taylan Sekeroglu","doi":"10.5152/TurkArchPediatr.2024.24059","DOIUrl":"10.5152/TurkArchPediatr.2024.24059","url":null,"abstract":"","PeriodicalId":75267,"journal":{"name":"Turkish archives of pediatrics","volume":"59 6","pages":"599-602"},"PeriodicalIF":1.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142634593","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 Prognosis of Idiopathic Premature Ventricular Beats in Children with Structurally Normal Hearts. 心脏结构正常儿童的特发性室性早搏预后。
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-11-01 DOI: 10.5152/TurkArchPediatr.2024.24075
Kürşat Çetin, Filiz Ekici, Fırat Kardelen, Muhammet Bulut, Şenay Akbay

Objective: The objective of this study is to evaluate the prognosis of idiopathic premature ventricular beats (PVBs) in children.

Materials and methods: We retrospectively evaluated 73 children (<18 years old) with idiopathic PVBs and structurally normal hearts. All patients were evaluated by 24-hour Holter electrocardiography (ECG) and echocardiography at the first admission and followed with a mean of 27 ± 7.6 months after diagnosis. Baseline Holter ECG and echocardiographic findings were compared to the last visit.

Results: The mean age of the patients was 11.1 ± 4.8 years, and half were symptomatic at initial examination. Baseline Holter showed complex beats in 35 cases, non-sustained ventricular tachycardia in 7 cases, and frequent PVBs in 19 cases. Complete recovery (CR) of PVBs was observed in 37 cases (50.7%) at a median of 15 (minimum: 5, maximum: 33) months after diagnosis. There were no significant differences in CR rates between patient groups with left bundle branch block (LBBB) vs. right bundle branch block (RBBB) morphology of PVBs, simple vs. complex PVBs, and daytime vs. nighttime dominance of PVBs (P > .05 for all parameters). The CR rate of PVBs was different among patients with infrequent, moderate, and frequent PVBs (62.8%, 36.4%, and 31.6%, respectively). Premature ventricular beats disappeared more often during follow-up in patients with infrequent PVBs (P = .045). However, the absolute decrease and disappearance rates of PVBs were similar across all groups (72.1%, 81.8%, and 89.5%, respectively; P = .319). The resolution rates of PVBs were not statistically different between the patient group who received pharmacological treatment and the group who followed up without treatment (P = .070). No myocardial dysfunction was observed in any patient during follow-up. No cases experienced major cardiac events.

Conclusion: Idiopathic PVBs usually regress in childhood regardless of frequency and complexity or receiving antiarrhythmic medication. The risk of ventricular dysfunction is low during childhood; however, they require careful evaluation and follow-up.

目的:本研究旨在评估儿童特发性室性早搏(PVB)的预后:本研究旨在评估儿童特发性室性早搏(PVB)的预后:我们对 73 名儿童进行了回顾性评估:患者的平均年龄为(11.1 ± 4.8)岁,半数患者在初次检查时无症状。基线 Holter 显示,35 例为复杂搏动,7 例为非持续性室性心动过速,19 例为频繁 PVB。37 例患者(50.7%)在确诊后 15 个月(最短:5 个月,最长:33 个月)的中位数观察到 PVB 完全恢复(CR)。PVB形态为左束支传导阻滞(LBBB)与右束支传导阻滞(RBBB)、简单PVB与复杂PVB、白天PVB占主导地位与夜间PVB占主导地位的患者组之间的CR率无明显差异(所有参数的P>0.05)。不常发生、中度发生和频繁发生 PVB 的患者的 PVB CR 率不同(分别为 62.8%、36.4% 和 31.6%)。在随访期间,不常发生 PVB 的患者室性早搏消失的频率更高(P = 0.045)。然而,各组 PVB 的绝对减少率和消失率相似(分别为 72.1%、81.8% 和 89.5%;P = .319)。接受药物治疗的患者组和未接受治疗的随访组之间的 PVB 消除率没有统计学差异(P = .070)。随访期间未发现任何患者出现心肌功能障碍。没有病例发生重大心脏事件:结论:无论发病频率和复杂程度如何,或是否接受抗心律失常药物治疗,特发性 PVB 通常会在儿童期消退。儿童期发生心室功能障碍的风险较低;但需要对其进行仔细评估和随访。
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引用次数: 0
Gut Microbiota Alterations in Autism Spectrum Disorder. 自闭症谱系障碍中的肠道微生物群变化。
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-09-02 DOI: 10.5152/TurkArchPediatr.2024.24086
Annio Posar, Paola Visconti
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引用次数: 0
Investigation of Physical Fitness in Children and Adolescents with Juvenile Idiopathic Arthritis: A Case-Control Study. 青少年特发性关节炎患者的体能调查:病例对照研究
IF 1.3 Q3 PEDIATRICS Pub Date : 2024-09-02 DOI: 10.5152/TurkArchPediatr.2024.24103
Sinem Bozcuk, Bilge Basakcı Calık, Elif Gur Kabul, Zahide Ekici Tekin, Selçuk Yüksel

Swelling, effusion, tenderness, and pain seen in the joints of juvenile idiopathic arthritis (JIA). This disease may cause limitation in joint movements, muscle weakness, atrophy, balance, and gait disorders. Physical fitness is accepted as an important determinant of health in both childhood and adolescence. The aim was to evaluate the physical fitness of children/adolescents with JIA and compare it with healthy peers. Seventy children/adolescents were included (35 JIA and 35 healthy). The Childhood Health Assessment Questionnaire (CHAQ) and the Brockport physical fitness test battery were used for evaluation. The Brockport physical fitness test battery consists of dominant handgrip strength, curl-up, push-up, trunk lift, shoulder stretch, sit and reach tests, skinfold thickness (calf/triceps/subscapular) measurements, and PACER 20 m test. A significant difference was found in all sub-parameters of CHAQ (P < .05) and dominant hand grip strength (P = .037), curl-up test (P < .001), trunk lift test (P = .018), shoulder stretch (P < .001) and PACER 20 m test (P < .001) tests in favor of the healthy group. Children/adolescents with JIA demonstrated lower performance compared to their healthy peers in muscular and cardiovascular capacity tests (curl-up test, PACER 20 m test, trunk lift test, dominant hand grip strength test, and shoulder stretch test). Their functional abilities are more impaired, and they experience higher levels of pain and lower levels of general well-being compared to healthy peers.

幼年特发性关节炎(JIA)会出现关节肿胀、渗出、触痛和疼痛。这种疾病会导致关节活动受限、肌肉无力、萎缩、平衡和步态障碍。体能被认为是儿童和青少年健康的重要决定因素。本研究旨在评估患有关节炎的儿童/青少年的体能,并将其与健康儿童/青少年进行比较。研究对象包括 70 名儿童/青少年(35 名 JIA 患者和 35 名健康患者)。评估采用儿童健康评估问卷(CHAQ)和布洛克波特体能测试。布罗克波特体能测试包括优势手握力、卷发上举、俯卧撑、躯干上举、肩部拉伸、坐姿和伸展测试、皮褶厚度(小腿/肱三头肌/肩胛下)测量以及 PACER 20 米测试。结果发现,健康组在 CHAQ 的所有子参数(P < .05)、优势手握力(P = .037)、卷发上举测试(P < .001)、躯干上举测试(P = .018)、肩部拉伸(P < .001)和 PACER 20 米测试(P < .001)方面均有明显差异。与健康的同龄人相比,患有 JIA 的儿童/青少年在肌肉和心血管能力测试(卷腹测试、PACER 20 米测试、躯干抬高测试、优势手握力测试和肩部拉伸测试)中表现较差。与健康的同龄人相比,他们的功能能力受损更严重,疼痛程度更高,总体健康水平更低。
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引用次数: 0
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Turkish archives of pediatrics
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