congenital abnormality

先天性异常
  • 文章类型: Journal Article
    背景:多指是一种先天性异常,其特征是在一个或多个四肢上存在额外的手指。在哥伦比亚,2021年,多指畸形占肌肉骨骼先天性畸形的17%,患病率为每10,000例活产6.03。这项研究的目的是确定多指的患病率,并确定相关的危险因素在波哥大和卡利,哥伦比亚,从2002年到2020年。
    方法:采用回顾性病例对照研究设计,分析先天缺陷和孤儿疾病预防和随访计划监测系统提供的出生缺陷报告数据。病例包括多指的活产或死产,而对照组由没有先天性异常的婴儿组成,在出生日期和医院方面相匹配。计算多指患病率,并通过逻辑回归模型获得的比值比评估危险因素,考虑95%的置信区间。
    结果:在纳入研究的558,255名新生儿中,发现848例多指畸形,导致每10,000例活产中15.19例的患病率。与多指畸形相关的危险因素包括男性新生儿性别,孕前糖尿病,一级亲属有畸形家族史。
    结论:这些发现强调了监测系统的重要性,旨在表征先天性异常人群,为分析风险因素提供更好的选择,帮助改善预防,诊断,通知,以及患者的最佳治疗。
    BACKGROUND: Polydactyly is a congenital abnormality characterized by the presence of additional fingers on one or more extremities. In Colombia, polydactyly accounted for 17% of musculoskeletal congenital abnormalities in 2021, with a prevalence of 6.03 per 10,000 live births. The purpose of this study was to determine the prevalence of polydactyly and identify associated risk factors in Bogotá and Cali, Colombia, from 2002 to 2020.
    METHODS: A retrospective case-control study design was employed, analyzing data from birth defect reports provided by the Program for the Prevention and Follow-up of Congenital Defects and Orphan Diseases surveillance system. Cases included live births or stillbirths with polydactyly, while controls consisted of infants without congenital abnormality, matched in terms of birth date and hospital. Prevalence of polydactyly was calculated and risk factors were assessed through odds ratios obtained by logistic regression models, considering a 95% confidence interval.
    RESULTS: Among the 558,255 births included in the study, 848 cases of polydactyly were identified, resulting in a prevalence rate of 15.19 per 10,000 live births. Risk factors associated with polydactyly included male newborn sex, pregestational diabetes, and a family history of malformation among first-degree relatives.
    CONCLUSIONS: These findings highlight the importance a surveillance system aimed to characterize populations with congenital abnormalities, providing a better option for analyzing risk factors, help improving prevention, diagnosis, notification, and optimal treatment in patients.
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  • 文章类型: Journal Article
    目的探讨妊娠期米氮平暴露与特定不良妊娠结局风险的相关性。
    进行了一项基于注册的全国队列研究,包括1997年至2016年在丹麦的所有注册怀孕。根据倾向评分,以1:4的比例将米氮平暴露的妊娠与米氮平未暴露的妊娠进行比较。结果是使用对数二项模型分析的主要先天性畸形,自然流产,使用Cox比例风险回归分析死产和新生儿死亡。
    从1,650,649例怀孕的原始人口中,倾向评分匹配的队列包括主要先天性畸形分析中的4475例妊娠(米氮平暴露895例).自然流产的分析包括9500例怀孕(暴露于1900例米氮平),对于死产和新生儿死亡的分析,包括9725例(1945例米氮平暴露)和4485例怀孕(897例米氮平暴露),分别。暴露于米氮平的孕妇中有31名(3.5%)儿童被诊断出患有严重的先天性畸形,而未暴露的孕妇中有152名(4.3%)(OR=0.81,95%CI0.55-1.20)。与931例(12.3%)未暴露妊娠者相比,237例米氮平暴露者发生自然流产(HR=1.04%,95%CI0.91-1.20)。分析显示死产风险没有增加(HR=0.88%,95%CI0.34-2.29)或新生儿死亡(HR=0.60%,95%CI0.18-2.02)。
    在这项全国性的丹麦注册研究中,妊娠期间米氮平暴露与主要先天性畸形无关,自然流产,死产,或新生儿死亡。临床医生和患者可以放心,米氮平在怀孕期间是安全的。
    To investigate the association between mirtazapine exposure in pregnancy and risk of specific adverse pregnancy outcomes.
    A register-based nationwide cohort study was conducted including all registered pregnancies in Denmark from 1997 to 2016. Mirtazapine-exposed pregnancies were compared with mirtazapine unexposed pregnancies in a 1:4 ratio matched according to propensity scores. Outcomes were major congenital malformations analyzed using log binomial models, and spontaneous abortion, stillbirth and neonatal death analyzed using Cox proportional hazard regression.
    From a source population of 1,650,649 pregnancies, the propensity score-matched cohort included 4475 pregnancies (895 mirtazapine exposed) in the analysis of major congenital malformations. The analyses of spontaneous abortion included 9 500 pregnancies (1900 mirtazapine exposed), and for the analyses of stillbirths and neonatal deaths 9725 (1 945 mirtazapine-exposed) and 4485 pregnancies (897 mirtazapine-exposed) were included, respectively. Thirty-one (3.5%) children were diagnosed with major congenital malformation among the mirtazapine exposed compared with 152 (4.3%) among the unexposed pregnancies (OR=0.81, 95% CI 0.55-1.20). Spontaneous abortion occurred in 237 (12.5%) of the mirtazapine exposed compared with 931 (12.3%) of the unexposed pregnancies (HR = 1.04%, 95% CI 0.91-1.20). The analyses revealed no increased risk of stillbirth (HR = 0.88%, 95% CI 0.34-2.29) or neonatal death (HR = 0.60%, 95% CI 0.18-2.02).
    In this nationwide Danish register study, mirtazapine exposure in pregnancy was not associated with major congenital malformations, spontaneous abortion, stillbirth, or neonatal death. Clinicians and patients can be reassured that mirtazapine is safe in pregnancy.
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  • 文章类型: Journal Article
    目的:颅内蛛网膜囊肿(AC)是稳定的脑脊髓液(CSF)填充囊,在一生中很少发生进行性收缩或消失。在这份手稿中,我们提出了一个创伤后完全缓解AC的案例,回顾这种现象的可能触发因素,并讨论其背后的病理生理机制。
    方法:在介绍我们的案例后,我们使用PubMed数据库对所有报告的AC减少或缓解病例进行了文献综述(最后更新于2021年2月).排除自发性病例。根据其煽动事件对其余病例(1985-2021年)进行分析,人口统计学,然后介绍了临床特征。
    结果:确定了58例患者,其中33个自发解决。除我们介绍的病例外,其余25人也包括在调查中。平均年龄是20.2岁,平均时间为25.3个月,只有三分之二的病例显示AC完全消失。中枢神经系统感染是一个婴儿(4%)消退的诱因,16例(62%)患者有头部外伤史,9例(35%)患者有颅内手术史.
    结论:AC消失是一种罕见的现象,可以自发发生或在煽动事件之后发生。囊壁破裂和CSF流摄动理论似乎是触发AC解决中最适用的病理生理机制。
    OBJECTIVE: Intracranial Arachnoid cysts (AC) are stable cerebral spinal fluid (CSF)-filled sacs that can rarely undergo progressive shrinkage or disappearance throughout life. In this manuscript, we present a case of post-traumatic complete resolution of an AC, review the possible triggers of this phenomenon, and discuss the pathophysiological mechanisms behind them.
    METHODS: After presenting our case, we performed a literature review using the PubMed Database of all the reported cases of AC reduction or resolution (last updated in February 2021). Spontaneous cases were excluded. An analysis of the remaining cases (1985-2021) according to their inciting event, demographical, and clinical characteristics was then presented.
    RESULTS: 58 patients were identified, 33 of which spontaneously resolved. The remaining 25 were included in the survey in addition to the case we presented. The mean age was 20.2 years, average time to resolution was 25.3 months, with only two third of the cases showing complete disappearance of the AC. A central nervous system infection was the inciting cause of resolution in one infant (4%), a history of head trauma in 16 (62%) patients and an intracranial procedure in 9 (35%) patients.
    CONCLUSIONS: AC disappearance is a rare phenomenon that can occur spontaneously or after an inciting event. The cyst wall rupture and CSF flow perturbation theories seem to be the most applicable pathophysiological mechanisms in triggered AC resolution.
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  • 文章类型: Journal Article
    背景:在≥35岁的女性中,胎儿丢失的风险高于年轻女性。本研究旨在探讨高龄产妇(AMA)胎儿丢失的原因及影响因素。
    方法:2018年12月至2020年6月在福建省妇幼保健院产科进行首次产前检查的单胎(<14孕周)AMA女性纳入本队列研究。那些在14孕周之前终止妊娠的人被排除在外。进行了基线调查,并进行随访直至终止妊娠。提取临床资料,分析其中胎儿丢失的原因。在嵌套病例对照研究中,AMA胎儿丢失妇女作为病例组,同期无胎儿丢失的妇女作为对照组,以1:2的比例与年龄和孕周相匹配。采用Logistic回归模型分析胎儿丢失的影响因素。
    结果:共纳入239例胎儿丢失妇女和478例对照。胎儿丢失的原因最常见的是胎儿因素,其次是母亲因素,脐带因素,和胎盘因素。多因素logistic回归分析显示初中及以下文化程度(调整比值比(aOR)=5.13,95%置信区间(CI):2.19-12.02),高中教育(AOR=4.91,95%CI:2.09-11.54),居住在农村地区(aOR=2.85,95%CI:1.92-4.25),失业率(AOR=1.81,95%CI:1.20-2.71),自然流产史(aOR=1.88,95%CI:1.26-2.80),早产史(aOR=11.08,95%CI:2.90-42.26),妊娠期高血压疾病(aOR=7.20,95%CI:2.24-23.12),胎膜早破(aOR=4.12,95%CI:1.53~11.11)是胎儿丢失的危险因素。
    结论:教育水平低,失业,异常妊娠/分娩史,妊娠并发症与AMA中胎儿丢失的发生率相关。因此,早期识别和有针对性的干预,应该进行。
    BACKGROUND: The risk of fetal loss is higher among ≥35-year-olds than younger women. The present study aimed to explore the causes and factors influencing fetal loss in advanced maternal age (AMA).
    METHODS: AMA women with singleton fetuses (< 14 gestational weeks) who underwent their first prenatal examination in the Obstetrics Department of Fujian Maternity and Child Health Hospital from December 2018 to June 2020 were included in this cohort study. Those who terminated the pregnancy before 14 gestational weeks were excluded. A baseline survey was conducted, and follow-up was carried out until the termination of the pregnancy. Clinical data were extracted to analyse the causes of fetal loss among them. In the nested case-control study, the AMA women with fetal loss were enrolled as the case group, and women without fetal loss in the same period were enrolled as the control group, in a 1:2 ratio matched by age and gestational weeks. Logistic regression models were used to analyse the factors influencing fetal loss.
    RESULTS: A total of 239 women with fetal loss and 478 controls were enrolled. The causes of fetal loss were most often fetal factors, followed by maternal factors, umbilical cord factors, and placental factors. Multivariate logistic regression analysis indicated that junior high school education and below (adjusted odds ratio (aOR) = 5.13, 95% confidence interval (CI): 2.19-12.02), senior high school education (aOR = 4.91, 95% CI: 2.09-11.54), residence in a rural area (aOR = 2.85, 95% CI: 1.92-4.25), unemployment (aOR = 1.81, 95% CI: 1.20-2.71), spontaneous abortion history (aOR = 1.88, 95% CI: 1.26-2.80), preterm birth history (aOR = 11.08, 95% CI: 2.90-42.26), hypertensive disorders of pregnancy (aOR = 7.20, 95% CI: 2.24-23.12), and preterm premature rupture of membranes (aOR = 4.12, 95% CI: 1.53-11.11) were risk factors for fetal loss.
    CONCLUSIONS: Low educational level, unemployment, abnormal pregnancy/labor history, and pregnancy complications were correlated with the incidence of fetal loss in AMA. Thus, early identification as well as a targeted intervention, should be conducted.
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  • 文章类型: Journal Article
    这项对240只豚鼠(148只女性和92只男性)的回顾性研究的目的是确定不同椎骨公式的患病率以及先天性椎骨异常(CVA)的类型和解剖定位。子宫颈射线照片(C),胸廓(Th),腰部(L),骶骨(S),回顾了脊柱的尾部(Cd)部分。记录脊柱各节段的形态和数量以及CVA的类型和位置。椎体形态正常的210/240只豚鼠(87.50%),发现了9个椎骨公式,C的数量恒定,而Th的数量可变,L,和S椎骨:C7/Th13/L6/S4/Cd5-7(75%),C7/Th13/L6/S3/Cd6-7(4.17%),C7/Th13/L5/S4/Cd6-7(2.50%),C7/Th13/L6/S5/Cd5-6(1.67%),C7/Th12/L6/S4/Cd6(1.25%),C7/Th13/L7/S4/Cd6(1.25%),C7/Th13/L7/S3/Cd6-7(0.83%),C7/Th12/L7/S4/Cd5(0.42%),C7/Th13/L5/S5/Cd7(0.42%)。在30/240(12.5%)的豚鼠中发现CVA,大部分为过渡椎骨(28/30),代表100%的单个CVA位于颈胸(n=1),胸腰椎(n=22)和腰骶段(n=5)。确定了胸腰椎移行椎骨(TTV)的五种形态变体。两只(2/30)豚鼠具有CVA的组合:颈阻滞椎骨和TTV(n=1)以及TTV和腰骶移行椎骨(LTV)(n=1)。这些发现表明,豚鼠的脊柱表现出更多的形态变异,偶尔CVA主要是移行椎骨。
    The objectives of this retrospective study of 240 guinea pigs (148 females and 92 males) were to determine the prevalence of different vertebral formulae and the type and anatomical localization of congenital vertebral anomalies (CVA). Radiographs of the cervical (C), thoracic (Th), lumbar (L), sacral (S), and caudal (Cd) part of the vertebral column were reviewed. Morphology and number of vertebrae in each segment of the vertebral column and type and localization of CVA were recorded. In 210/240 guinea pigs (87.50%) with normal vertebral morphology, nine vertebral formulae were found with constant number of C but variable number of Th, L, and S vertebrae: C7/Th13/L6/S4/Cd5-7 (75%), C7/Th13/L6/S3/Cd6-7 (4.17%), C7/Th13/L5/S4/Cd6-7 (2.50%), C7/Th13/L6/S5/Cd5-6 (1.67%), C7/Th12/L6/S4/Cd6 (1.25%), C7/Th13/L7/S4/Cd6 (1.25%), C7/Th13/L7/S3/Cd6-7 (0.83%), C7/Th12/L7/S4/Cd5 (0.42%), C7/Th13/L5/S5/Cd7 (0.42%). CVA were found in 30/240 (12.5%) of guinea pigs, mostly as a transitional vertebra (28/30), which represents 100% of single CVA localised in cervicothoracic (n = 1), thoracolumbar (n = 22) and lumbosacral segments (n = 5). Five morphological variants of thoracolumbar transitional vertebrae (TTV) were identified. Two (2/30) guinea pigs had a combination of CVA: cervical block vertebra and TTV (n = 1) and TTV and lumbosacral transitional vertebra (LTV) (n = 1). These findings suggest that guinea pigs\' vertebral column displays more morphological variants with occasional CVA predominantly transitional vertebrae.
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  • 文章类型: Journal Article
    目的:这项定性研究探讨了新生儿护士在新生儿重症监护病房(NICU)中促进父母与先天性异常婴儿之间亲密关系的经验。
    背景:患有先天性异常的婴儿通常需要进入新生儿重症监护病房。父母可能会经历与婴儿的情感距离,由于他们对婴儿先天性异常的反应,以及由于婴儿在NICU住院而导致的身体分离。NICU护士可以帮助促进NICU中婴儿与父母之间的亲密关系。
    方法:这项定性解释描述研究涉及面对面,对12名新生儿护士进行了半结构化访谈,随后对收集的数据进行了主题分析。在编写本文时使用了报告定性研究(COREQ)清单的综合标准。
    结果:分析中出现了三个主要主题-“每个人的应对方式都不同,\"\"你必须专注于什么是正常的事情\"和\"这是非常个性化的方法。“参与者经常感到没有准备好照顾患有先天性异常的婴儿,并实施应对机制来克服他们经历的情绪劳动。皮肤对皮肤的拥抱被认为是父母与婴儿建立亲密关系的最有益策略。参与者认识到,他们有时会“推动”父母与婴儿互动。与会者强调了个性化的重要性,对这些父母的支持。
    结论:新生儿护士需要加强有关先天性异常的教育和个性化护理,以支持他们照顾先天性异常的婴儿。
    结论:需要进一步研究父母在NICU中与患有先天性异常的婴儿建立亲密关系的经验。
    OBJECTIVE: This qualitative study explored the experiences of neonatal nurses with facilitating closeness between parents and babies with congenital abnormalities in the neonatal intensive care unit (NICU).
    BACKGROUND: Babies with congenital abnormalities often require admission to the neonatal intensive care unit. Parents may experience emotional distancing from their baby, due to their response to their baby\'s congenital abnormality, as well as physical separation due to their baby\'s hospitalisation in the NICU. NICU nurses can help facilitate the development of closeness between babies and parents in the NICU.
    METHODS: This qualitative interpretive description study involved face-to-face, semi-structured interviews with twelve neonatal nurses following which the data collected were thematically analysed. The consolidated criteria for reporting qualitative research (COREQ) checklist were used in preparing this paper.
    RESULTS: Three major themes emerged from the analysis-\"Everyone copes differently,\" \"You have to focus on what is the normal thing\" and \"It\'s very much an individualised approach.\" Participants often felt unprepared to care for babies with congenital abnormalities and implemented coping mechanisms to overcome the emotional labour they experienced. Skin-to-skin cuddles were considered the most beneficial strategy for parents to develop closeness with their baby. Participants recognised that they sometimes \"pushed\" parents into engaging with their baby. Participants highlighted the importance of individualised, supportive care for these parents.
    CONCLUSIONS: Neonatal nurses require increased education about congenital abnormalities and individualised care to support them in caring for babies with congenital abnormalities.
    CONCLUSIONS: Further research is needed on parental experience of developing closeness with a baby with a congenital abnormality in the NICU.
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  • 文章类型: Journal Article
    OBJECTIVE: The objective of this study was to investigate changes in the posterior cranial fossa in patients with symptomatic Chiari malformation type I (CMI) compared to a control group.
    METHODS: We retrospectively reviewed clinical and radiological data from 12 symptomatic patients with CMI and 24 healthy control subjects. The structures of the brain and skull base were investigated using magnetic resonance imaging.
    RESULTS: The length of the clivus had significantly decreased in the CMI group than in the control group (p=0.000). The angle between the clivus and the McRae line (p<0.024), as the angle between the supraocciput and the McRae line (p<0.021), and the angle between the tentorium and a line connecting the internal occipital protuberance to the opisthion (p<0.009) were significantly larger in the CMI group than in the control group. The mean vertical length of the cerebellar hemisphere (p<0.003) and the mean length of the coronal and sagittal superoinferior aspects of the cerebellum (p<0.05) were longer in the CMI group than in the control group, while the mean length of the axial anteroposterior aspect of the cerebellum (p<0.001) was significantly shorter in the CMI group relative to control subjects.
    CONCLUSIONS: We elucidate the transformation of the posterior cranial fossa into the narrow funnel shape. The sufficient cephalocaudal extension of the craniectomy of the posterior cranial fossa has more decompression effect than other type extension of the craniectomy in CMI patients.
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