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Early diagnosis effects the prognosis in children with atypical wheeze. 早期诊断影响非典型喘息患儿的预后。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2019.35467
Ezgi Ulusoy Severcan, Esen Demir, Figen Gülen, Raziye Burcu Güven Bilgin, Remziye Tanaç

Aim: Recurrent wheezing is a common problem in preschool children.It is classified into two groups because there can be many reasons for wheeze: typical and atypical. The aim of this study was to identify the general features of atypical wheezy children.

Material and methods: Three hundred two children who presented to our clinic between 2000 and 2015 for three or more wheezing attacks and were diagnosed as having an underlying disease such as bronchiectasis, foreign body aspiration, recurrent aspiration pneumonia, cystic fibrosis, bronchopulmonary dysplasia, congenital anomalies, and tuberculosis, were included in the study.

Results: In this study, 127 (42.1%) girls and 175 (57.9%) boys were evaluated. The diagnostic distribution of the patients was as follows: bronchopulmonary dysplasia (21.9%), bronchiolitis obliterans (16.6%), bronchiectasis (14.5%), bronchiolitis obliterans + primary immunodeficiency (12.3%), cystic fibrosis (10.3%), bronchiectasis + primary immunodeficiency (7.9%), recurrent aspiration pneumonia (3.6%) and foreign body aspiration (3.3%), and other diseases (9.6%). Mosaic oligemia, bronchiectasis, atelectasis, bronchiolectasis, and small airway disease were the most distinct findings on high-resolution lung tomography. When the patients were evaluated clinically, radiologically, and according to pulmonary functions after an average period of 40 months, it was seen that 9.2% deteriorated, 33.9% regressed, and 56.7% remained stable. Presentation to hospital after the first attack occurred earlier in patients with bronchopulmonary dysplasia, bronchiolitis obliterans and bronchiolitis obliterans + primary immunodeficiency compared with patients with bronchiectasis, bronchiectasis + primary immunodeficiency, and cystic fibrosis. When presentation time and outcomes were evaluated, it was found that 63.4% of patients who presented to hospital early (0-6 months) and 7.5% of patients who presented late (after 5 years) had regression.

Conclusion: Recurrent wheezy children must be promptly evaluated for an underlying disease. Early diagnosis and treatment influence the prognosis.

目的:反复喘息是学龄前儿童的常见问题。它被分为两组,因为可以有许多原因喘息:典型和非典型。本研究的目的是确定非典型喘息儿童的一般特征。材料和方法:本研究纳入了2000年至2015年期间就诊于本诊所的3200名患儿,这些患儿有三次或三次以上的喘息发作,并被诊断为有支气管扩张、异物吸入、复发性吸入性肺炎、囊性纤维化、支气管肺发育不良、先天性异常和结核病等基础疾病。结果:本研究共评估127例(42.1%)女生和175例(57.9%)男生。诊断分布为:支气管肺发育不良(21.9%)、闭塞性细支气管炎(16.6%)、支气管扩张(14.5%)、闭塞性细支气管炎+原发性免疫缺陷(12.3%)、囊性纤维化(10.3%)、支气管扩张+原发性免疫缺陷(7.9%)、反复吸入性肺炎(3.6%)和异物吸入(3.3%)、其他疾病(9.6%)。高分辨率肺断层扫描最明显的表现是花叶性贫血、支气管扩张、肺不张、细支气管扩张和小气道疾病。平均40个月后对患者进行临床、影像学和肺功能评估,9.2%恶化,33.9%消退,56.7%保持稳定。与支气管扩张、支气管扩张+原发性免疫缺陷和囊性纤维化患者相比,支气管肺发育不良、闭塞性细支气管炎和闭塞性细支气管炎+原发性免疫缺陷患者首次发作后入院时间更早。当评估就诊时间和结果时,发现63.4%的早期(0-6个月)就诊患者和7.5%的晚期(5年后)就诊患者出现倒退。结论:复发性喘息儿童必须及时评估潜在疾病。早期诊断和治疗影响预后。
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引用次数: 0
Validation of the Turkish Parent Supervision Attributes Profile Questionnaire. 土耳其父母监督属性问卷的验证。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2019.80148
Caner Özdemir, Ahmet Ergin, Serpil Uğur Baysal, Ceren Oğuz, Bilge Betül Yılmaz

Aim: The most common cause of death in childhood is unintentional injury. Most childhood injuries occur when children are under the supervision of caregivers. There is no valid and reliable instrument for measuring the parents' supervision attributes in Turkey. The aim of this study was to adapt the Parent Supervision Attributes Profile Questionnaire to Turkish.

Material and methods: This research was methodological. The data were collected through a questionnaire that consisted of 11 questions about the demographic and socioeconomic characteristics of the family and the Turkish Parent Supervision Attributes Profile Questionnaire. The Questionnaire, developed by Morrongiello and House, is a 5-point Likert-type scale and consists of 29 items. High scores obtained from the scale, which has no cut-off, indicate a high supervisory behavior. The language adaptation and content validity of the scale were completed by experts. Confirmatory factor analysis was used for construct validity. Reliability was tested by internal consistency coefficients.

Results: Five hundred sixty people participated in the study, 81.9% of whom were mothers. The mean age of the mothers was 33.8±4.6 years and the mean age of the fathers was 37.2±5.1 years. The percentage of university graduates was 56.8% among mothers and 53.9% among fathers. According to the confirmatory factor analysis, the fit index values were as follows: Standardized Root Mean Square Residual =0.097, Goodness of Fit Index =0.80, Root Mean Square Error of Approximation =0.089, Comparative Fit Index =0.88, Non-Normed Fit Index =0.87. The fit index values were moderate and confirmed 4-factor structure. It was found that the internal consistency coefficient calculated for reliability was 0.75 for the whole scale and ranged between 0.57 and 0.79 for the subscales.

Conclusion: The Turkish Parent Supervision Attributes Profile Questionnaire is a valid and reliable measurement tool. Further research is needed to determine the current situation regarding supervisory behaviors.

目的:儿童最常见的死亡原因是意外伤害。大多数儿童伤害发生在儿童在照顾者的监督下。在土耳其,没有有效可靠的工具来衡量家长的监督属性。本研究的目的是将父母监督属性问卷调整为土耳其语。材料与方法:本研究为方法学研究。数据是通过一份调查问卷收集的,该问卷包括11个关于家庭人口统计和社会经济特征的问题,以及土耳其父母监管属性概况问卷。该问卷由Morrongiello和House开发,采用李克特式5分制,由29个项目组成。量表没有分界点,得分越高,说明监督行为越好。量表的语言适应性和内容效度由专家完成。建构效度采用验证性因子分析。采用内部一致性系数检验信度。结果:560人参与了这项研究,其中81.9%是母亲。母亲平均年龄为33.8±4.6岁,父亲平均年龄为37.2±5.1岁。母亲中大学毕业生占56.8%,父亲中大学毕业生占53.9%。经验证性因子分析,拟合指标值为:标准化均方根残差=0.097,拟合优度指数=0.80,近似均方根误差=0.089,比较拟合指数=0.88,非归一化拟合指数=0.87。拟合指数值适中,证实了四因素结构。结果发现,整体量表的信度内部一致性系数为0.75,子量表的信度内部一致性系数在0.57 ~ 0.79之间。结论:土耳其父母监管属性问卷是一种有效、可靠的测量工具。需要进一步的研究来确定监管行为的现状。
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引用次数: 0
Efficacy of tolterodine in children with overactive bladder. 托特罗定治疗儿童膀胱过动症的疗效。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2020.98215
Başak Koç, Nur Canpolat, İbrahim Adaletli, Lale Sever, Haluk Emir, Salim Çalışkan

Aim: Tolterodine is an anticholinergic drug used for the treatment of overactive bladder. We evaluated the effects of tolterodine on clinical symptoms and compared its efficacy with that of oxybutynin in terms of bladder capacity, bladder wall thickness, and post-void residual volume in children with overactive bladder.

Material and methods: Twenty-six patients who were treated with tolterodine for overactive bladder (20 girls, mean age 8.0±2.2 years) were evaluated retrospectively. Twenty patients with overactive bladder who had undergone oxybutynin treatment (15 girls, mean age 7.6±1.8 years) served as the control group. Dysfunctional voiding symptom scoring was used to evaluate the clinical response to tolterodine. To investigate the effect of treatment on the bladder, ultrasonographic data at baseline and the third month were compared with the oxybutynin group.

Results: The dysfunctional voiding symptom scores significantly decreased after the third month of tolterodine treatment (p<0.001). Bladder capacity significantly increased (p<0.001), and filled bladder wall thickness decreased (p=0.007); however, post-void residual volumes significantly increased (p<0.001) at the third month. No serious adverse effects were recorded during tolterodine treatment. The increase in bladder capacity at the third month in the tolterodine group was similar to that in the oxybutynin group (p=0.77), but the decrease in filled bladder wall thickness was significantly greater in the tolterodine group (p=0.019).

Conclusion: Tolterodine remarkably ameliorates the clinical symptoms of overactive bladder in a short time, and seems to be as effective as oxybutynin for the treatment of overactive bladder in children. Its effect on reduction of bladder wall thickness appears to be superior to that of oxybutynin.

目的:托特罗定是一种治疗膀胱过动症的抗胆碱能药物。我们评估了托特罗定对临床症状的影响,并比较了托特罗定与奥昔布宁在膀胱容量、膀胱壁厚度和膀胱过度活动儿童膀胱后残留体积方面的疗效。材料与方法:回顾性分析26例使用托特罗定治疗膀胱过动症的患者(20例女性,平均年龄8.0±2.2岁)。对照组为膀胱过动症患者20例(女孩15例,平均年龄7.6±1.8岁)。功能障碍排尿症状评分用于评价托特罗定的临床疗效。为探讨治疗对膀胱功能的影响,将治疗前和治疗后第3个月的超声资料与奥施布宁组进行比较。结果:托特罗定治疗第3个月后排尿功能障碍症状评分显著降低(p)结论:托特罗定可在短时间内显著改善儿童膀胱过动症的临床症状,与奥昔布宁治疗儿童膀胱过动症的疗效相当。其减轻膀胱壁厚度的效果似乎优于奥昔布宁。
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引用次数: 1
Eosinophilic gastroenteritis as a cause of gastrointestinal tract bleeding and protein-losing enteropathy. 嗜酸性胃肠炎是胃肠道出血和蛋白质丢失性肠病的原因。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2018.48376
Makbule Eren, Nujin Uluğ, Yusuf Aydemir

Eosinophilic gastroenteritis is an inflammatory disease characterized by pathologic eosinophilic infiltration of any portion of the gastrointestinal tract. Depending on the involved site and layer of eosinophilic infiltration, symptoms and signs are heterogeneous. This manuscript reports two patients who presented with acute upper gastrointestinal tract bleeding and protein-losing enteropathy signs, and were diagnosed as having eosinophilic gastroenteritis. Upper endoscopy revealed an appearance of mucosal pseudomass in both patients. Both patients achieved satisfactory clinical improvement with an elimination diet and proton pump inhibitor treatment.

嗜酸性胃肠炎是一种以胃肠道任何部位的病理性嗜酸性浸润为特征的炎症性疾病。根据涉及的部位和嗜酸性粒细胞浸润的层数不同,症状和体征是不同的。本文报道了两例急性上消化道出血和蛋白丢失性肠病体征,并被诊断为嗜酸性胃肠炎的患者。上腔镜检查显示两例患者均出现粘膜假团块。通过消除饮食和质子泵抑制剂治疗,两例患者均获得满意的临床改善。
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引用次数: 2
Implantation of cardiac defibrillator in an infant with hypertrophic cardiomyopathy and newly identified MYBP3 mutation. 心脏除颤器植入肥厚性心肌病和新发现的MYBP3突变的婴儿。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2018.35556
Osman Güvenç, Kadri Karaer, Sertaç Haydin, Alper Güzeltaş, Yakup Ergül

Hypertrophic cardiomyopathy has the highest incidence rate among genetically inherited cardiac diseases. It develops as a result of mutations in genes in related to the sarcomere protein in cardiac muscle. Generally, this results in asymmetrical hypertrophy. Patients who are symptomatic and have a significantly narrow left ventricular undergo should receive surgical treatment, whereas patients with a sudden cardiac death risk should receive treatment with an implantable cardiac defibrillator. This paper presents an infant with hypertrophic cardiomyopathy who was recently identified as having a mutation that resulted in a deletion-insertion type framework shift in the gene MYBPC3, who had family history of sudden death at a young age, and received myectomy and treatment with an implantable cardiac defibrillator in the same session due to a severely narrowed left ventricular outflow tract.

肥厚性心肌病是遗传性心脏病中发病率最高的疾病。它是由于心肌中与肌节蛋白相关的基因突变而产生的。通常,这会导致不对称的肥厚。有症状且左心室明显狭窄的患者应接受手术治疗,而有心源性猝死风险的患者应接受植入式心脏除颤器治疗。本文报道了一名患有肥厚性心肌病的婴儿,该婴儿最近被发现患有导致MYBPC3基因缺失-插入型框架转移的突变,该婴儿在年轻时有猝死家族史,由于左心室出口道严重变窄,在同一时期接受了心肌切除术和植入式心脏除颤器治疗。
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引用次数: 0
Intraventricular hemorrhage in preterm babies. 早产儿脑室内出血。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2020.66742
Eren Özek, Sinem Gülcan Kersin

Germinal matrix-intraventricular hemorrhage (GM-IVH) is a major complication of prematurity and inversely associated with gestational age and birth weight. The hemorrhage originates from the germinal matrix with an immature capillary bed where vascularization is intense and active cell proliferation is high. It occurs in around 20% of very low-birth-weight preterm neonates. Germinal matrix-intraventricular hemorrhage is less common in females, the black race, and with antenatal steroid use, but is more common in the presence of mechanical ventilation, respiratory distress, pulmonary bleeding, pneumothorax, chorioamnionitis, asphyxia, and sepsis. Ultrasonography is the diagnostic tool of choice for intraventricular hemorrhage and its complications. Approximately 25-50% of the germinal matrix-intraventricular hemorrhage cases are asymptomatic and diagnosed during routine screening. These cases are usually patients with low-grade hemorrhage. Neurologic findings are prominent in severe intraventricular hemorrhage cases. The major complications of the germinal matrix-intraventricular hemorrhage in preterm babies are periventricular hemorrhagic infarction, posthemorrhagic ventricular dilatation, periventricular leukomalacia, and cerebellar hemorrhage. It is an important cause of mortality and morbidity. The management of hemodynamics and ventilation of patients, appropriate follow-up, and early diagnosis and treatment can minimize morbidity. Prognosis in intraventricular hemorrhage is related to the severity of bleeding, parenchymal damage, and the presence of seizures and shunt surgery. The main determinant of prognosis is periventricular hemorrhagic infarction and its severity. Moderate-severe intraventricular hemorrhage can cause posthemorrhagic hydrocephalus, cerebral palsy, and mental retardation. Even mild germinal matrix-intraventricular hemorrhage can result in developmental disorders. Long-term problems such as neurodevelopmental disorders and cerebral palsy are as important as short-term problems. Improving the quality of life of these babies should be aimed through appropriate treatment and follow-up. In this review, intraventricular hemorrhage and complications are discussed.

生发基质-脑室内出血(GM-IVH)是早产的主要并发症,与胎龄和出生体重呈负相关。出血起源于生发基质和未成熟的毛细血管床,其中血管化强烈,活跃细胞增殖高。它发生在20%的极低出生体重早产儿中。生发基质-脑室内出血在女性、黑人和产前使用类固醇的人群中较少见,但在有机械通气、呼吸窘迫、肺出血、气胸、绒毛膜羊膜炎、窒息和败血症时更为常见。超声检查是诊断脑室内出血及其并发症的首选工具。大约25-50%的生发基质脑室内出血病例是无症状的,在常规筛查中被诊断出来。这些病例通常是低度出血患者。在严重脑室内出血病例中,神经系统的表现是突出的。早产儿生发基质-脑室内出血的主要并发症是脑室周围出血性梗死、出血性脑室扩张、脑室周围白质软化和小脑出血。它是死亡率和发病率的重要原因。对患者进行血流动力学和通气管理,适当的随访,早期诊断和治疗可使发病率降到最低。脑室内出血的预后与出血的严重程度、实质损伤、癫痫发作和分流手术有关。预后的主要决定因素是脑室周围出血性梗死及其严重程度。中重度脑室内出血可引起出血性脑积水、脑瘫和智力迟钝。即使是轻微的生发基质脑室内出血也会导致发育障碍。神经发育障碍和脑瘫等长期问题与短期问题同样重要。应通过适当的治疗和随访来改善这些婴儿的生活质量。本文就脑室内出血及其并发症作一综述。
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引用次数: 14
Immature teratoma of the posterior fossa in an infant: Case report. 婴儿后颅窝未成熟畸胎瘤1例。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2020.87847
Mahmood D Al-Mendalawi
Zhang et al. (1) nicely described a 2-month-old Chinese infant with immature teratoma of the posterior fossa, clinical picture, and physical, radiologic, and histopathologic examinations. I assume that the rare occurrence of that neoplasm at an unusual site in the studied infant should alert the authors to consider defective immune status, particularly infection with human immunodeficiency virus (HIV). My assumption is based on the following point. It is explicit that children with perinatal exposure to HIV are at increased risk to various neoplasms compared with their non-exposed counterparts (2). In China, HIV infection is an important health hazard. Although the overall HIV prevalence for pregnant women who lived in mainland China in 2016 (34.0/100 000) was reported to rank at low levels worldwide, it markedly differed across the whole country with two high-prevalence-clustered areas: the Yunnan province along with its bordering areas and Midwest of Xinjiang Uygur Autonomous Region (3). Regrettably, the HIV status of the mother of the studied infant was not defined and hence, some sort of vertical HIV transmission ought to be taken into consideration in the studied infant. I assume that the authors did not consider an underling HIV infection in the case in question. This is obvious as the authors vaguely mentioned that “laboratory examinations were normal” (1). They did not address exactly the employed laboratory tests. Therefore, planning for the diagnostic panel of a CD4 lymphocyte count and viral overload estimations was solicited in the studied infant. If that cluster of tests were accomplished and it revealed HIV infection, the case in question could be obviously regarded a novel case report in China. It will ultimately broaden the spectrum of HIVassociated teratoma in the pediatric literature (4). Mahmood D. Al-Mendalawi Department of Paediatrics, Al-Kindy College of Medicine, University of Baghdad, Baghdad, Iraq
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引用次数: 0
Is it autism? Some suggestions for pediatricians. 是自闭症吗?给儿科医生的一些建议。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2020.59862
Annio Posar, Paola Visconti

An early diagnosis of autism spectrum disorder, leading to a timely enabling intervention, is associated with a better long-term prognosis and allows the early detection of any medical comorbidities that are sometimes found in individuals with autism. It is, therefore, an important challenge to begin the diagnostic procedure of these children as soon as possible. Nowadays, much progress has been made in this respect compared with the past, but considerable work remains. A fundamental role in starting a correct and timely diagnostic procedure is obviously played by the pediatrician. Today, many tools are available for the early screening of autism in the general population, but unfortunately, their real effectiveness has yet to be established. In this narrative review, we address the topic of the early diagnosis of autism spectrum disorder, emphasizing, in particular, those that are now considered the first warning signs. We list a few of the most important signs to consider when a child aged around 18 months presents to a pediatrician, subdivided into three subgroups: social-communication skills; patterns of behavior, interests, or activities; and sensory behaviors and reactivity/temperament. We deal separately with the possible presence of slight motor signs, which can also go unnoticed, but probably they should be considered as very early signs appearing even before social-communication deficits.

自闭症谱系障碍的早期诊断,导致及时的有利干预,与更好的长期预后有关,并允许早期发现有时在自闭症患者身上发现的任何医学合并症。因此,尽早开始对这些儿童进行诊断是一项重要的挑战。如今,与过去相比,这方面已经取得了很大的进步,但仍有大量的工作要做。儿科医生显然在正确及时的诊断过程中起着至关重要的作用。今天,有许多工具可用于在一般人群中进行自闭症的早期筛查,但不幸的是,它们的真正有效性尚未得到证实。在这篇叙述性回顾中,我们讨论了自闭症谱系障碍的早期诊断,特别强调了那些现在被认为是第一个警告信号的问题。我们列出了一些最重要的迹象,当一个18个月左右的孩子出现在儿科医生面前时,需要考虑这些迹象,并将其细分为三个子类:社交沟通技能;行为模式:行为、兴趣或活动的模式;感官行为和反应性/气质。我们单独处理可能存在的轻微运动迹象,这些迹象也可能被忽视,但可能它们应该被视为非常早期的迹象,甚至在社交沟通缺陷之前就出现了。
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引用次数: 5
The danger awaiting premature babies: Portal vein thrombosis. 等待早产儿的危险:门静脉血栓形成。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2020.65289
Salih Çağrı Çakır, Hilal Özkan, Bayram Ali Dorum, Nilgün Köksal, Pınar Kudretoğlu, Birol Baytan, Melike Sezgin, Adalet Meral Güneş

Aim: Umbilical venous catheters are frequently used in the neonatal period. The incidence of umbilical venous catheter-related thrombosis is between 1.3% and 43% in ultrasound scans. This study aimed to determine the incidence and risk of portal vein thrombosis in patients who were hospitalized in the neonatal intensive care unit and underwent umbilical venous catheter insertion.

Material and methods: Premature infants (≤32 gestational weeks) who were hospitalized in a Level III neonatal intensive care unit and underwent umbilical vein catheter placement between 2016 and 2018, were included in the study. The demographic data, clinical risk factors for thrombosis, number of catheter days, catheter locations, times of detection of thrombosis using Doppler ultrasonography, treatment methods and durations, thrombosis follow-up and examinations were obtained retrospectively from the electronic patient files.

Results: Ninety-six patients whose complete data could be reached were enrolled in the study. The mean gestational age of the patients was found as 29±2 weeks and the mean birth weight was 1353±369 g. Portal vein thrombosis was detected in 13.5% (n=13) of the patients. Five of the cases of portal vein thrombose were complete occlusion and eight were partial occlusion. All patients with complete occlusion and six patients with partial occlusion were treated with low-molecular-weight heparin for a mean duration of 31±13.8 days. Thrombosis disappeared in 7-120 days in all patients. A thrombophilia mutation was detected in six patients with thrombosis, four of whom had the PAI-1 4G / 5G mutation.

Conclusion: Portal vein thrombosis which has a significant place among the causes of portal hypertension in childhood, is mostly asymptomatic in the neonatal period and cannot be recognized clinically. It is important to screen and follow up patients with umbilical vein catheters using Doppler ultrasonography in terms of PVT after catheter removal to prevent long-term complications.

目的:脐静脉导管是新生儿时期常用的导管。超声扫描显示,脐静脉导管相关血栓的发生率在1.3%至43%之间。本研究旨在确定新生儿重症监护病房住院并行脐静脉置管的患者门静脉血栓形成的发生率和风险。材料与方法:2016 - 2018年在三级新生儿重症监护病房住院并行脐静脉置管的早产儿(≤32孕周)纳入研究。从患者电子档案中回顾性获取患者的人口学资料、血栓形成的临床危险因素、置管天数、置管位置、多普勒超声检测血栓形成次数、治疗方法及持续时间、血栓形成随访及检查情况。结果:96例资料完整的患者入组研究。平均胎龄29±2周,平均出生体重1353±369 g。13.5% (n=13)患者有门静脉血栓形成。门静脉血栓完全闭塞5例,部分闭塞8例。所有完全闭塞患者和6例部分闭塞患者均应用低分子肝素治疗,平均疗程为31±13.8天。所有患者血栓形成均在7 ~ 120 d内消失。在6例血栓患者中检测到一个血栓性突变,其中4例具有PAI-1 4G / 5G突变。结论:门静脉血栓形成在儿童期门静脉高压症的病因中占有重要地位,但在新生儿期多无症状,临床不易识别。应用多普勒超声对脐静脉置管患者拔管后PVT进行筛查和随访,预防长期并发症的发生具有重要意义。
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引用次数: 4
Recurrent infections, neurologic signs, low serum uric acid levels, and lymphopenia in childhood: Purine nucleoside phosphorylase deficiency, an emergency for infants. 儿童复发性感染、神经系统症状、低血清尿酸水平和淋巴细胞减少:嘌呤核苷磷酸化酶缺乏症,婴儿的紧急情况。
IF 1.5 Q3 Medicine Pub Date : 2020-09-23 eCollection Date: 2020-01-01 DOI: 10.14744/TurkPediatriArs.2019.83788
Necil Kütükçüler, Ezgi Bölük, Nazan Tökmeci, Neslihan Edeer Karaca, Elif Azarsız, Güzide Aksu, Ayça Aykut
Abstract Purine nucleoside phosphorylase deficiency is one of the severe combined immunodeficiencies, which often clinically manifests with recurrent infections, neurologic symptoms and autoimmune diseases, and leads to thymocyte development and peripheral T cell activation defects. It is an immunologic emergency for childhood. In this case series, four cases with purine nucleoside phosphorylase deficiency were evaluated. Recurrent febrile infections and neuromotor developmental retardation were among the presenting symptoms in all cases. Absolute lymphocyte counts and serum uric acid levels were very low, and serum immunoglobulin levels were normal or slightly lower in all cases. The genetic molecular analysis of four patients revealed three predefined mutations in the purine nucleoside phosphorylase gene. Three of the four patients were lost due to sepsis during follow-up, and one patient was lost due to veno-occlusive disease in the post-hematopoietic stem cell transplantation period. We presented these cases to emphasize that purine nucleoside phosphorylase deficiency should always be considered in patients with frequent recurrent infections, neurologic findings, low serum uric acid levels, and lymphopenia.
嘌呤核苷磷酸化酶缺乏症是一种严重的联合免疫缺陷,临床上常表现为反复感染、神经系统症状和自身免疫性疾病,并导致胸腺细胞发育和外周T细胞活化缺陷。这是儿童时期的一种免疫紧急情况。在这个病例系列中,评估了4例嘌呤核苷磷酸化酶缺乏症。所有病例均以反复发热性感染和神经运动发育迟缓为主要症状。所有病例的绝对淋巴细胞计数和血清尿酸水平都很低,血清免疫球蛋白水平正常或略低。对四名患者的遗传分子分析显示嘌呤核苷磷酸化酶基因有三个预先确定的突变。4例患者中有3例在随访中因败血症丢失,1例在造血干细胞移植后因静脉闭塞性疾病丢失。我们提出这些病例是为了强调嘌呤核苷磷酸化酶缺乏症在经常复发感染、神经系统症状、低血清尿酸水平和淋巴细胞减少的患者中应该被考虑。
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引用次数: 1
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Turk Pediatri Arsivi-turkish Archives of Pediatrics
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