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Perlman Syndrome with Deletion of DIS3L2 Gene Perlman综合征伴DIS3L2基因缺失
Q4 PEDIATRICS Pub Date : 2020-10-01 DOI: 10.2147/rrn.s270490
K. Salameh, B. Viswanathan, Z. Nawaz, L. Habboub, A. Tomerak, Rajesh Pattuvalappil
: Perlman syndrome is a rare genetic disorder with autosomal recessive inheritance. It is caused by deletion of the DIS3L2 gene on the long arm of chromosome 2. Though more than 30 cases have been reported in the literature with clinical features of the syndrome, very few cases have identified underlying genetic defects. The clinical features of Perlman syndrome have similarities with those of Beckwith–Wiedemann syndrome (BWS), prune belly syndrome (PBS) and Simpson–Golabi–Behmel syndrome (SGBS1). Affected patients have macrosomia, dysmorphic features, hypotonia, laxity of abdominal wall, cryptorchidism, renal anomalies and risk of development of Wilm’s tumour. Here we report a neonate with typical clinical features of Perlman syndrome, with deletion of DIS3L2 gene confirmed by array comparative genomic hybridization (aCGH).
帕尔曼综合征是一种罕见的常染色体隐性遗传遗传病。它是由2号染色体长臂上的DIS3L2基因缺失引起的。虽然文献中报道了30多例具有该综合征临床特征的病例,但很少有病例确定了潜在的遗传缺陷。Perlman综合征的临床特征与Beckwith-Wiedemann综合征(BWS)、prune belly综合征(PBS)、Simpson-Golabi-Behmel综合征(SGBS1)有相似之处。受影响的患者有巨大儿、畸形特征、低张力、腹壁松弛、隐睾、肾脏异常和发展为威尔姆氏瘤的风险。在这里,我们报告了一个具有典型Perlman综合征临床特征的新生儿,通过阵列比较基因组杂交(aCGH)证实了DIS3L2基因的缺失。
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引用次数: 0
Knowledge Outcome of Helping Babies Breathe Training in Southern Nations, Nationalities and People’s Region, Ethiopia: A Pre- and Post-Test Study 埃塞俄比亚南部国家、民族和人民地区帮助婴儿呼吸训练的知识成果:测试前和测试后研究
Q4 PEDIATRICS Pub Date : 2020-10-01 DOI: 10.2147/RRN.S274235
Lalisa Chewaka Gamtessa, Kindie Mitiku Kebede
Introduction: Helping Babies Breathe (HBB) training is a key strategy to decrease neonatal mortality. The objectives of this study were to evaluate the effect of HBB on knowledge outcome and to assess the knowledge outcome in relation to different variables in Southern Nations, Nationalities and People’s Region (SNNPR), Ethiopia. Methods: A pre- and post-test study was conducted using data from HBB trainings given for health workers. The training was given for 2.5 days and the knowledge outcome was evaluated using validated 18 questions. The post-test was given immediately after the training. Data were entered into Epi Info 7 and imported to SPSS version 21. The paired sample t -test was used to compare pre- and post-test means. The independent sample t -test was used to determine the relationship between knowledge outcome with sex, education level, and health facility. One way ANOVA with post hoc test was computed for comparing the knowledge outcome of the training among different professions. The general linear model (GLM) was used to determine the main and interaction effects. The statistical significance was determined at p<0.05. Results: In this study, we assessed the knowledge outcome of 98 trainees. The trainees’ mean knowledge score increased from 64.4% (pre-test) to 80.7% (post-test). The difference was statistically significant with p <0.001. Sex (pre-test p =0.003, post-test p =0.005) and education level (pre-test p =0.017, post-test p =0.037) of the trainees were significantly associated with the knowledge outcome while profession and type of health facility were not significant ( p >0.05). The GLM showed that the interaction effects of sex, education level, profession, and type of health facility over the knowledge outcome were non-significant ( p >0.05). Conclusion: The knowledge outcome of trainees significantly improved after the HBB training. It was significantly varied with sex and education level both at pre- and post-test. Therefore, these variables need consideration when arranging HBB trainings.
导言:帮助婴儿呼吸(HBB)训练是降低新生儿死亡率的关键策略。本研究的目的是评估HBB对知识产出的影响,并评估知识产出与埃塞俄比亚南部国家、民族和人民地区(SNNPR)不同变量的关系。方法:使用卫生工作者HBB培训的数据进行测试前和测试后的研究。培训为期2.5天,并使用验证的18个问题评估知识结果。培训结束后立即进行后测。数据输入Epi Info 7,导入SPSS version 21。配对样本t检验用于比较前后检验均值。采用独立样本t检验确定知识结果与性别、教育水平和卫生设施的关系。采用单因素方差分析和事后检验比较不同专业培训的知识效果。采用一般线性模型(GLM)确定主效应和交互效应。差异有统计学意义(p0.05)。GLM结果显示,性别、受教育程度、专业和卫生机构类型对知识结果的交互作用不显著(p < 0.05)。结论:HBB培训后,学员的知识成果有显著提高。在测试前和测试后,随性别和受教育程度的不同而有显著差异。因此,在安排HBB培训时,需要考虑这些变量。
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引用次数: 0
Poor Universal Coverage of Immediate Essential Newborn Care at Hospitals of Wollega Zones, The Case of Western Ethiopia 在Wollega地区的医院,新生儿紧急基本护理的普遍覆盖不佳,以埃塞俄比亚西部为例
Q4 PEDIATRICS Pub Date : 2020-09-01 DOI: 10.2147/rrn.s260369
H. Kasaye, M. Yilma, F. Bobo, Ginenus Fekadu
Background: Thousands of neonates die annually in Ethiopia related to preventable causes. Low-quality care enhances neonatal morbidity and mortality unless remedial action is taken based on evidence. Here, we show the magnitude of essential newborn care service provisions and factors contributing to substandard care. Methods: We conducted a cross-sectional study in four hospitals of Wollega Zones from April to August 2017. We calculated 390 samples using Epi-info stat calc using necessary assumptions. A systematic random sampling method was used to select study participants. Non-participatory observations of essential newborn care service provisions were conducted using a World Health Organization checklist. We used binary logistic regression models to identify the independent predictors and reported variables having P-values less than 0.05 at 95% confidence intervals of odds ratios as significantly associated variables. Results: A total of 375 childbirths were observed and among these, only 11 (2.9%) neonates were given all components of immediate essential newborn care, while 315 (84.0%) of the newborns initiated early breast-feeding, 131 (34.9%) kept warm, 108 (28.8%) got disease prevention measures (89 (23.7%) helped to breathe, and only 14 (3.7%) kept clean immediately following the birth. Maternal highest annual income, maternal age, need of resuscitation, presence of assistant to a birth attendant, childbirth during the weekends were statistically significantly associated with immediate essential neonatal care categories in various predictive level. Conclusion: The essential newborn care provided for the neonates during childbirth at the health facilities was found to be poor. Continued efforts at improving access to quality essential newborn care provided for neonates are required. Hospital administrators need to consider enhancing the number of skilled delivery attendants, and enforcing implementations of essential newborn care standards is mandatory to protect the lives of neonates.
背景:埃塞俄比亚每年有数千名新生儿死于可预防的原因。除非根据证据采取补救行动,否则低质量的护理会提高新生儿发病率和死亡率。在这里,我们展示了基本新生儿护理服务提供的规模和导致护理不合格的因素。方法:2017年4 - 8月对沃勒加地区4家医院进行横断面研究。我们使用Epi-info stat calc在必要的假设下计算了390个样本。采用系统随机抽样的方法选择研究对象。使用世界卫生组织核对表对新生儿基本护理服务进行了非参与性观察。我们使用二元逻辑回归模型来识别独立预测因子和在95%优势比置信区间p值小于0.05的报告变量作为显著相关变量。结果:共观察375例新生儿,其中仅有11例(2.9%)新生儿获得新生儿即时基本护理,315例(84.0%)新生儿开始母乳喂养,131例(34.9%)新生儿获得保暖,108例(28.8%)新生儿获得疾病预防措施,89例(23.7%)新生儿获得呼吸帮助,14例(3.7%)新生儿出生后立即保持清洁。产妇最高年收入、产妇年龄、复苏需求、助产人员是否在场、周末分娩与新生儿紧急基本护理类别在各预测水平上均有统计学显著相关。结论:卫生机构在分娩期间为新生儿提供的基本新生儿护理较差。必须继续努力改善为新生儿提供的优质新生儿基本护理。医院管理人员需要考虑增加熟练接生人员的数量,并强制实施基本的新生儿护理标准,以保护新生儿的生命。
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引用次数: 2
The Role of Plasma Lactate Dehydrogenase Testing in the Prediction of Severe Conditions in Newborn Infants: A Prospective Study 血浆乳酸脱氢酶检测在预测新生儿重症中的作用:一项前瞻性研究
Q4 PEDIATRICS Pub Date : 2020-08-01 DOI: 10.2147/rrn.s254500
T. N. V. Anh, Hao Tran Kiem, H. Hoang
Purpose: Plasma lactate dehydrogenase (LDH) is an indicator of body tissue hypoxia. This study aimed to determine the relationship between plasma lactate dehydrogenase concentrations and severe conditions in newborn infants. Patients and Methods: A cross-sectional study was performed on newborn infants who were admitted to the newborn care unit at Hue University hospital from April 2016 to May 2017 in the early neonatal period (within 12 hours postpartum). Plasma LDH was measured at the time of admission and correlated to clinical conditions. Results: In 275 newborn infants, plasma LDH levels in the term infants were significantly higher than that in the preterm infants [751 (IQR: 602–922) vs 594 (IQR: 496.75–767.25), p=0.0006]. There was a relationship between the signs of feeding problems, tachypnea, and cyanosis with plasma LDH levels (p < 0.01). Infants with asphyxia had significantly higher LDH values than the non-asphyxia group [756 (640–1110) vs 712 (576–882.25) p=0.0289]. Infants with early-onset neonatal sepsis had significantly higher LDH values than those without early-onset neonatal sepsis [755.5 (IQR: 645–960.5) vs 707 (IQR: 562.25–881.25) p=0.0035]. Infants with respiratory distress requiring continuous positive airway pressure (CPAP) had significantly higher LDH values than those with illnesses not requiring CPAP [903 (IQR: 628.75–1285.25) vs 719 (IQR: 576.5–882) p=0.0421]. By using multivariate regression analysis, we found a significant multifactorial correlation between gestational age, early-onset neonatal sepsis, asphyxia, and respiratory distress requiring CPAP with plasma LDH levels (p <0.05). Conclusion: Plasma LDH level can be a good marker for the prognosis of severe conditions in newborn infants, including early-onset neonatal sepsis, asphyxia, and respiratory-distress.
目的:血浆乳酸脱氢酶(LDH)是机体组织缺氧的指标。本研究旨在确定新生儿血浆乳酸脱氢酶浓度与重症之间的关系。患者和方法:对2016年4月至2017年5月在顺化大学附属医院新生儿护理病房住院的新生儿(产后12小时内)进行横断面研究。入院时测量血浆LDH,并与临床状况相关。结果:275例新生儿中,足月儿血浆LDH水平显著高于早产儿[751 (IQR: 602-922) vs 594 (IQR: 496.75-767.25), p=0.0006]。血浆乳酸脱氢酶(LDH)水平与喂养问题、呼吸急促、发绀体征有相关性(p < 0.01)。窒息婴儿的LDH值明显高于非窒息组[756(640-1110)比712 (576-882.25)p=0.0289]。早发性新生儿脓毒症患儿的LDH值明显高于无早发性新生儿脓毒症患儿[755.5 (IQR: 645-960.5) vs 707 (IQR: 562.25-881.25) p=0.0035]。需要持续气道正压通气(CPAP)的呼吸窘迫患儿的LDH值明显高于不需要CPAP的患儿[903 (IQR: 628.75-1285.25) vs 719 (IQR: 576.5-882) p=0.0421]。通过多因素回归分析,我们发现胎龄、早发型新生儿脓毒症、窒息和呼吸窘迫与血浆LDH水平之间存在显著的多因素相关性(p <0.05)。结论:血浆LDH水平可作为新生儿早期脓毒症、窒息、呼吸窘迫等重症预后的良好指标。
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引用次数: 3
Individualizing Oral Feeding Assessment and Therapies in the Newborn 新生儿个体化口腔喂养评估与治疗
Q4 PEDIATRICS Pub Date : 2020-05-01 DOI: 10.2147/rrn.s223472
D. Azuma, Jill L. Maron
: Oral feeding competency is a milestone most infants must achieve prior to discharge. It is a developmentally complex task that requires integration of multiple sensory inputs, central nervous system maturation, motor coordination, and respiratory stability. While ensuring safety during oral feeding is important to reduce morbidities, we must optimize developmental windows to expedite feeding maturation. Currently, many of the assessments and therapies related to oral feeding skills focus solely on nutritive and non-nutritive sucking. Yet, this essential re fl ex is only one component of oral feeding. Speci fi c challenges faced by individual newborns are often unique, and delays in development in any one of the many systems involved in oral feeding can lead to prolonged oral feeding maturation. Expanding the fi eld to go beyond targeting oral motor skills to consider all aspects of feeding maturity, inclusive of sensory integration and hunger signaling, is needed to advance care. As technology continues to develop at a rapid pace, the fi eld must compare the ef fi cacy of these clinical and technologic assessments and therapies. In this review, we will address the complexity of neonatal feeding, review assessment tools and interventions for feeding safety and developmental readiness, and propose an individualized, multi-faceted approach to oral feeding evaluation and intervention.
:口腔喂养能力是大多数婴儿出院前必须达到的一个里程碑。这是一项发育复杂的任务,需要整合多种感觉输入、中枢神经系统成熟、运动协调和呼吸稳定性。虽然确保口服喂养期间的安全对降低发病率很重要,但我们必须优化发育窗口以加快喂养成熟。目前,许多与口腔喂养技能相关的评估和治疗只关注营养性和非营养性吮吸。然而,这种必要的反射只是口服喂养的一个组成部分。新生儿个体所面临的特殊挑战往往是独特的,口腔喂养所涉及的许多系统中的任何一个系统的发育延迟都可能导致口腔喂养成熟期延长。需要扩大这一领域,超越针对口腔运动技能,考虑喂养成熟度的各个方面,包括感觉整合和饥饿信号,以推进护理。随着技术的快速发展,该领域必须比较这些临床和技术评估以及治疗的效果。在这篇综述中,我们将解决新生儿喂养的复杂性,回顾喂养安全和发育准备的评估工具和干预措施,并提出一种个性化的、多方面的口腔喂养评估和干预方法。
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引用次数: 9
Neonatal (and Infant) Coarctation of the Aorta: Management Challenges 新生儿(和婴儿)主动脉缩窄:管理挑战
Q4 PEDIATRICS Pub Date : 2020-02-01 DOI: 10.2147/rrn.s189545
P. Rao
: Surgical correction of coarctation of the aorta was described in the mid-1940s and balloon angioplasty was introduced in the early 1980s. Several types of surgical methods were devised to treat native coarctation, but eventually, resection and end-to-end anastomosis became a standard approach with the use of extended end-to-end anastomosis for babies with hypoplasia of the isthmus and/or transverse aortic arch. Balloon angioplasty was considered as a substitute for surgical correction and was so used for some time, but because of high rate of recurrence in the neonate and young infant, most centers have reverted back to surgical correction as a primary mode of treatment of aortic coarctation in the neonate. Further research into feasibility of using stents in the management of coarctation in neonates and young infants are necessary. It is generally agreed that balloon angioplasty is the treatment of choice for post-surgical aortic recoarctations.
:20世纪40年代中期描述了主动脉缩窄的外科矫正,20世纪80年代初引入了球囊血管成形术。设计了几种类型的手术方法来治疗先天性缩窄,但最终,切除和端对端吻合成为了一种标准方法,对峡部和/或横主动脉弓发育不全的婴儿使用扩展端对端吻合术。球囊血管成形术被认为是外科矫正的替代品,并且已经使用了一段时间,但由于新生儿和婴幼儿的高复发率,大多数中心已经恢复将外科矫正作为新生儿主动脉缩窄的主要治疗模式。有必要进一步研究使用支架治疗新生儿和婴幼儿缩窄的可行性。人们普遍认为球囊血管成形术是术后主动脉重建的首选治疗方法。
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引用次数: 11
Pulmonary Function and Systolic Blood Pressure in Very Low Birth Weight Infants at 34 - 36 Weeks of Corrected Age. 极低出生体重儿34 - 36周矫正年龄时肺功能和收缩压。
Q4 PEDIATRICS Pub Date : 2019-09-13 DOI: 10.2147/rrn.s208194
Ladawna L Gievers, Randall D Jenkins, Amy Laird, Marissa C Macedo, Diane Schilling, Cindy T McEvoy

Purpose: Preterm infants are at increased risk of systemic hypertension compared to term infants. Bronchopulmonary dysplasia (BPD) has been shown to be associated with hypertension in preterm infants albeit with no causation reported. BPD is characterized by abnormal pulmonary function tests (PFTs), specifically elevated passive respiratory resistance (Rrs), decreased passive respiratory compliance (Crs) and decreased functional residual capacity (FRC). There have been no studies comparing PFTs in very low birth weight (VLBW) infants with and without hypertension. We hypothesized that stable VLBW infants with hypertension will have altered PFTs.

Patients and methods: Retrospective cohort study of infants < 1500 grams at birth (VLBW) who had PFTs performed near 34-36 weeks of corrected gestational age (CGA). We excluded infants with congenital anomalies, known hypertensive disorders or those at risk of medication-induced hypertension. Data obtained included PFT parameters (Rrs, Crs, FRC) and mean systolic blood pressure (SBP).

Results: 59 VLBW infants were identified for analysis, 14 with and 45 without hypertension. Hypertensive and normotensive patients were similar in terms of mean gestational age (26.6 vs 27.4 weeks), mean CGA at PFTs (36.1 vs 34.6 weeks) and proportion of BPD (36% vs 36%). The Rrs was significantly higher in hypertensive versus normotensive patients [median Rrs of 0.080 (0.069, 0.090) versus 0.066 (0.054, 0.083) cmH2O/mL/sec; p = 0.04]. There was no difference in systolic blood pressure in the infants with and without BPD.

Conclusion: In this cohort of contemporary VLBW infants, those with hypertension had increased Rrs. This finding warrants a prospective study with a larger sample size and long-term follow-up.

目的:与足月婴儿相比,早产儿患全身性高血压的风险增加。支气管肺发育不良(BPD)已被证明与早产儿高血压有关,尽管没有因果关系的报道。BPD的特征是肺功能测试(pft)异常,特别是被动呼吸阻力(Rrs)升高,被动呼吸顺应性(Crs)降低和功能剩余容量(FRC)降低。目前还没有研究比较极低出生体重(VLBW)婴儿有和没有高血压的pft。我们假设稳定的VLBW婴儿合并高血压会改变pft。患者和方法:对出生时< 1500克(VLBW)的婴儿进行回顾性队列研究,这些婴儿在34-36周矫正胎龄(CGA)附近进行了PFTs。我们排除了有先天性异常、已知高血压疾病或有药物性高血压风险的婴儿。获得的数据包括PFT参数(Rrs, Crs, FRC)和平均收缩压(SBP)。结果:59例VLBW婴儿被确定用于分析,14例有高血压,45例无高血压。高血压和正常血压患者在平均胎龄(26.6周vs 27.4周)、PFTs时的平均CGA(36.1周vs 34.6周)和BPD比例(36% vs 36%)方面相似。高血压患者的Rrs明显高于正常患者[中位Rrs分别为0.080(0.069,0.090)和0.066 (0.054,0.083)cmH2O/mL/sec;P = 0.04]。有和没有BPD的婴儿的收缩压没有差异。结论:在这个当代VLBW婴儿队列中,高血压患者的rr增加。这一发现为更大样本量的前瞻性研究和长期随访提供了依据。
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引用次数: 1
Neonatal sepsis biomarkers: where are we now? 新生儿败血症生物标志物:我们现在在哪里?
Q4 PEDIATRICS Pub Date : 2019-03-14 DOI: 10.2147/RRN.S163082
Margaret Gilfillan, V. Bhandari
php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). Research and Reports in Neonatology 2019:9 9–20 Research and Reports in Neonatology Dovepress
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引用次数: 25
Neonatal sepsis and associated factors among newborns in hospitals of Wolaita Sodo Town, Southern Ethiopia 埃塞俄比亚南部Wolaita Sodo镇医院新生儿中的新生儿败血症及其相关因素
Q4 PEDIATRICS Pub Date : 2019-01-01 DOI: 10.2147/RRN.S193074
Abera Mersha, T. Worku, Shitaye Shibiru, Agegnehu Bante, A. Molla, Genzeb Seifu, Girma Huka, Eyerusalem Abraham, T. Teshome
and Materials and methods: This hospital-based cross-sectional study was conducted in 275 newborns from April 22 to June 29, 2018. Structured interviewer-administered pre-tested questionnaire and check list were used to collect the data. The collected data were entered into Epi data version and then exported into SPSS Windows version 22 for analysis. Bivariate and multivariate analyses were done by using binary logistic regression. The goodness of fit was tested by Hosmer–Lemeshow statistic and Omnibus tests. Multi-co-linearity test was carried out to determine the correlation between independent variables by using standard error and collinearity statistics. Variables with P < 0.25 in the bivariate analysis were included in the final model, and statistical significance was declared at P < 0.05. Results: This study found that 33.8% (95% CI: 28%–39%) of the neonates had neonatal sepsis during admission. Factors such as maternal age, multiple per digital vaginal examination, exclusive and immediate breastfeeding within an hour, put on kangaroo mother care (KMC) within 1 hour, and neonatal age were statistically significantly associated with neonatal sepsis. Conclusion and recommendations: This study indicated that the current rate of neonatal sepsis was still high. As such, strengthening the provision of health information on exclusive and immediate breastfeeding and KMC on postnatal and antenatal care services and decrease multiple per digital vaginal examination as not indicated should better to be promoted.
材料与方法:本研究以医院为基础,于2018年4月22日至6月29日对275名新生儿进行了横断面研究。采用结构化访谈者管理的预测试问卷和检查表收集数据。将收集到的数据输入Epi数据版本,导出到SPSS Windows 22版本进行分析。采用二元逻辑回归进行双变量和多变量分析。采用Hosmer-Lemeshow统计量和Omnibus检验进行拟合优度检验。采用标准误差和共线性统计量进行多重共线性检验,确定自变量之间的相关性。将双变量分析中P < 0.25的变量纳入最终模型,以P < 0.05为有统计学意义。结果:本研究发现33.8% (95% CI: 28%-39%)的新生儿在入院时发生新生儿脓毒症。产妇年龄、每次手指阴道检查多次、1小时内纯母乳喂养和立即母乳喂养、1小时内采用袋鼠妈妈护理(KMC)、新生儿年龄等因素与新生儿败血症有统计学意义。结论与建议:本研究提示当前新生儿脓毒症的发生率仍然较高。因此,应更好地促进提供关于纯母乳喂养和立即母乳喂养的保健信息,以及关于产后和产前保健服务的KMC,并减少未指出的每次阴道数字检查次数。
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引用次数: 31
Incontinentia pigmenti in a term neonate: an atypical presentation 足月新生儿的色素失禁:一个不典型的表现
Q4 PEDIATRICS Pub Date : 2018-10-01 DOI: 10.2147/RRN.S175262
Sasi Bhushan Gottimukkala, Madhu Jagalasar, G. Sethuraman, S. Kitchanan
: Incontinentia pigmenti is a rare X-linked dominant multi-system disorder that is clinically suspected, based on the characteristic evolution of skin lesions through four stages. We describe a term neonate who presented at birth with pleomorphic skin rashes, including linear hyperpigmented hyperkeratotic lesions and erythematous vesicles, and then developed seizures. She was later histologically and genetically confirmed as a case of incontinentia pigmenti. The simultaneous presence of three stages of skin lesions in the neonatal period is an atypical presentation, which has not been previously well described.
:色素性尿失禁是一种罕见的X连锁显性多系统疾病,临床上怀疑它是基于皮肤病变经过四个阶段的特征演变。我们描述了一名足月新生儿,他在出生时出现多形性皮疹,包括线性色素沉着的角化过度病变和红斑性小泡,然后出现癫痫发作。她后来被组织学和遗传学证实为色素失禁。新生儿期同时出现三个阶段的皮肤病变是一种非典型表现,以前没有很好的描述。
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引用次数: 1
期刊
Research and reports in neonatology
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