malformations

畸形
  • 文章类型: Case Reports
    我们报道了5例患者在壶腹和菌毛之间有单侧或双侧输卵管不连续,2017年至2023年,山东大学附属生殖医院偶尔通过腹腔镜联合宫腔镜检查发现。3例观察到左输卵管有这种畸形,右侧有1个箱子,双边1例。这些病例均未合并泌尿系畸形。手术后,有1例术后分娩,1正在怀孕,3尚未构思。输卵管的先天性壶腹和菌毛中断可能与生殖道或肾脏的其他明显畸形无关。然而,它可以导致输卵管积水和原发性或继发性不孕。手术管理选择,比如输卵管造口术,输卵管切除术,输卵管结扎,已经显示出改善妊娠结局的潜力。
    We reported 5 patients with unilateral or bilateral tubal discontinuity between the ampulla and fimbria, occasionally detected through laparoscopy combined with hysteroscopy at the Reproductive Hospital Affiliated with Shandong University from 2017 to 2023. Three cases were observed to have this malformation on the left fallopian tube, 1 case on the right side, and 1 case bilaterally. None of these cases were combined with urological malformations. After surgery, there was 1 instance of postoperative delivery, 1 ongoing pregnancy, and 3 not yet conceived. The congenital ampulla and fimbria interruption of the fallopian tube may be independent of other significant deformities of reproductive or renal tracts. However, it can lead to hydrosalpinx and primary or secondary infertility. Surgical management options, such as salpingostomy, salpingectomy, and tubal ligation, have shown the potential to improve pregnancy outcomes.
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  • 文章类型: Journal Article
    目的:评价拉科沙胺(LCM)单药治疗在妊娠和哺乳期间的安全性。
    方法:在大学癫痫诊所接受LCM单药治疗的患者在怀孕期间进行了前瞻性随访,delivery,和母乳喂养。癫痫发作频率的数据,LCM用量,怀孕过程,分娩和母乳喂养,出生结果,先天性畸形,收集新生儿的发育。
    结果:报告了用LCM单药治疗的3例难治性局灶性癫痫患者中的4例妊娠。这些怀孕之一在妊娠的第七周以流产告终。受孕时的平均每日LCM剂量为300mg。在整个妊娠和母乳喂养期间继续用LCM治疗。在两次怀孕中,LCM的剂量增加:在一次癫痫发作复发后,在另一种情况下,作为避免癫痫发作频率增加的预防措施。在两种情况下,怀孕期间癫痫发作频率保持稳定。所有分娩都是通过剖腹产进行的,出生时的平均胎龄为37.6周。所有新生儿的阿普加评分都是10分,没有发现先天性畸形。在12个月大的时候,达到了正常的发展里程碑。婴儿进行母乳喂养,没有任何并发症。
    结论:该病例系列增加了越来越多的证据,表明LCM单一疗法在整个妊娠和母乳喂养期间的相对安全性。
    OBJECTIVE: To evaluate the safety of lacosamide (LCM) monotherapy during pregnancy and breastfeeding.
    METHODS: Patients taking LCM monotherapy treated at the university epilepsy clinic were prospectively followed up during pregnancy, delivery, and breastfeeding. Data on seizure frequency, LCM dosage, pregnancy course, delivery and breastfeeding, birth outcome, congenital malformation, and development of newborns was collected.
    RESULTS: Four pregnancies in three patients with refractory focal epilepsy treated with LCM monotherapy were reported. One of these pregnancies ended in a miscarriage during the seventh week of gestation. The average daily LCM dose at the time of conception was 300 mg. Treatment with LCM was continued throughout pregnancy and breastfeeding. The dose of LCM was increased in two pregnancies: in one case following a seizure relapse, and in the other case as a preventive measure to avoid an increase in seizure frequency. Seizure frequency remained stable during pregnancy in two cases. All deliveries were carried out via caesarean section, with an average gestational age at birth of 37.6 weeks. The Apgar score was 10 in all newborns, and no congenital malformations were detected. At the age of 12 months, normal developmental milestones were reached. Infants were breastfed without any complications.
    CONCLUSIONS: This case series adds to a growing body of evidence suggesting the relative safety of LCM monotherapy throughout pregnancy and breastfeeding.
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  • 文章类型: Case Reports
    背景:术语先天性膈膨出(CDE)是指膈的解剖学异常。这是非常罕见的情况;然而,早期和及时诊断是非常重要的,因为可能危及生命的并发症。受影响最严重的病人是新生儿,通常表现为呼吸窘迫症状。本研究的目的是系统回顾现有文献,巩固新生儿CDE的数据,并报告一例先天性左半膈肌diaphragm肌膨出的新生儿以及胃肠道的临床体征和症状。
    方法:对PubMed和Scopus数据库进行了电子搜索,涉及评估临床表现的研究,诊断方法,治疗,和新生儿人群CDE的结果。
    结果:93项研究的数据被纳入我们的综述,报告204例CDE病例,根据他们的说法,男性/女性比例为1/1,主要为右侧外移。诊断主要通过胸部X光检查确定;手术干预是最常见的治疗方法。复发率为8.3%(9/109例)。
    结论:早期准确的CDE诊断和膈肌修复可预防并发症,降低发病率,提高患者的生活质量。
    BACKGROUND: The term congenital diaphragmatic eventration (CDE) refers to an anatomical abnormality of the diaphragm. It is a very rare condition; however, early and prompt diagnosis is of very great importance due to possible life-threatening complications. Most severely affected patients are neonates, usually presented with respiratory distress symptoms. The aim of this study was to systematically review the existing literature and to consolidate data on CDE in neonates as well as to report a case of a neonate with congenital diaphragmatic eventration of the left hemidiaphragm and clinical signs and symptoms of the gastrointestinal tract.
    METHODS: An electronic search of the PubMed and Scopus databases was performed regarding studies evaluating the clinical presentation, diagnosis methods, treatments, and outcomes of CDE in the neonatal population.
    RESULTS: Data from 93 studies were integrated into our review, reporting 204 CDE cases, and according to them, the male/female ratio was 1/1 with a predominance of right-sided eventration. The diagnosis was primarily established by chest X-ray; surgical intervention was the most frequent treatment. The recurrence rate was 8.3% (9/109 cases).
    CONCLUSIONS: Early and accurate diagnosis of CDE and repair of the diaphragm can prevent complications, reduce morbidity, and improve the quality of patient\'s life.
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  • 文章类型: Case Reports
    脊髓动静脉畸形是儿科年龄组中罕见的血管异常。这些异常与破坏性后果有关,需要及时管理以防止长期的神经系统后遗症。我们报告了一例10岁男孩继发于III型脊髓动静脉畸形(青少年AVM)的四瘫,神经系统体征迅速恶化,由于缺乏先进的神经外科设施和介入放射学服务,必须进行保守管理在我们的设施和子区域。
    Spinal arteriovenous malformations are rare vascular anomalies within the paediatric age group. These anomalies are associated with devastating consequences and require prompt management to prevent the long-term neurological sequelae. We report a case of a 10-year-old boy with tetraparesis secondary to spinal arterio- venous malformation type III (Juvenile AVM) with rapidly deteriorating neurological signs who had to be managed conservatively due to lack of advanced neurosurgical facilities and interventional radiological services in our facility and sub region.
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  • 文章类型: Case Reports
    多脾综合征主要在儿科中描述;在成年期很少且偶然。大多数患者的诊断是在童年时期进行的,因为这些患者经常与心脏异常相关,这些异常在生命早期就能说明自己的问题。多个脾脏,观察到的最常见的畸形是下腔静脉的心脏缺损和血管畸形,并伴有奇或半奇延续。我们的病人是一个最罕见的成年附带诊断,他在急诊科就诊于肾病绞痛,在成像的同时,多个脾脏和其他内脏畸形被诊断。希望,心脏超声检查未显示任何心脏畸形,患者出院时意识到这种情况。通过这份出版物,我们报告了多脾疾病的可能偶然诊断,并强调了这样一个事实,即患有这种重要畸形的人可以过上正常的生活,只有意识到未来的手术,仪器治疗或其他。
    Polysplenia syndrome mainly described in pediatrics; rarely and incidentally in adulthood. Most patients had their diagnosis done during childhood due to the frequent association to cardiac anomalies that speak for themselves earlier in life. Multiple spleens, cardiac defect and vascular malformation of the inferior vena cava with azygos or hemiazygos continuation are the most frequent observed malformations. Our patient was one this rarest adulthood incidental diagnosis, who presented in the emergency department for nephritic colic, and while imaging for this, multiples spleens and other visceral malformations were diagnosed. Hopefully, cardiac ultrasound hadn\'t showed any cardiac malformation and the patient was discharged aware of this condition. Through this publication we report the possible incidental diagnosis of polysplenia condition and highlight the fact that people with such important malformation can lead a normal life, and only awareness should be given for future surgeries, instrumental treatment or else.
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  • 文章类型: Journal Article
    1p36缺失综合征是最常见的末端缺失综合征,临床表现为异常相和发育迟缓,伴有频繁的心脏,骨骼,泌尿生殖系统,和肾脏异常。有限的尸检病例报告描述了1p36缺失综合征的神经病理学。最广泛的单个病例报告描述了一系列异常,主要与神经元迁移异常有关。我们报道了最大的一系列1p36尸检病例,强调神经病理学发现。我们的系列包括3名患者:2名婴儿(5小时和23天)和1名年龄较大的儿童(11岁)。我们的患者表现出异常的皮质回旋以及一系列的神经元迁移异常,包括异型和海马异常,还有小脑发育不全.因此,我们的发现支持了神经元迁移缺陷在1p36缺失综合征中认知缺陷的发病机理中的作用,并扩大了该常见综合征的神经病理学范围。
    1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the neuropathology of 1p36 deletion syndrome. The most extensive single case report described a spectrum of abnormalities, mostly related to abnormal neuronal migration. We report the largest published series of 1p36 autopsy cases, with an emphasis on neuropathologic findings. Our series consists of 3 patients: 2 infants (5-hours old and 23-days old) and 1 older child (11 years). Our patients showed abnormal cortical gyration together with a spectrum of neuronal migration abnormalities, including heterotopias and hippocampal abnormalities, as well as cerebellar hypoplasia. Our findings thus support the role of neuronal migration defects in the pathogenesis of cognitive defects in 1p36 deletion syndrome and broaden the reported neuropathologic spectrum of this common syndrome.
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  • 文章类型: Journal Article
    Cerebral proliferative angiopathy (CPA) is an infrequent vascular malformation. It is composed of a nidus, arterial feeders, and venous drainage. Some special features differentiate it from the common arteriovenous malformations (AVM). The nidus has normal cerebral tissue intermingled and occupies a large portion of the brain. There is a frequent transdural arterial supply. Arterial feeders and draining veins are of small caliber concerning the nidus size. Ischemic strokes are the most common clinical event. Intracranial bleeding when occurs has a worse prognosis due to its high recurrence rate. We have presented two cases of CPA in pediatric patients who required surgical resolution of their acute episode.
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  • 文章类型: Case Reports
    Rheumatic mitral stenosis is still a pathological condition that affects young patients and is an important cause of mortality. 2017-European Guidelines for the management of valvular heart disease suggest a percutaneous approach with a mitral commissurotomy for the treatment of symptomatic pregnant women. Mitral commissurotomy procedure involves radiation exposure that is incompatible with the pregnancy condition. In our case, we present percutaneous mitral commissurotomy (PMC) to a 28-week pregnant woman with a low-radiation dose and the use of transesophageal echocardiography. The woman presented with a mitral transvalvular mean gradient of 21.6 mmHg and with symptoms non-responsive to medical treatment. PMC was driven by a transesophageal echocardiographic probe. This case demonstrates the feasibility and safety of PMC in a pregnant woman with severe rheumatic mitral stenosis.
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  • 文章类型: Journal Article
    注意到种族/族裔群体之间的出生缺陷患病率差异。例如,非西班牙裔(NH)黑人母亲更有可能有一个婴儿脑膨出,尽管与NHWhites相比,婴儿患anotia/microtia的可能性较小。当按出生和生活在美国的年份进行分层时,额外的变化变得明显。
    来自国家出生缺陷预防研究的数据用于计算描述性统计数据,并估计具有30个主要缺陷和非畸形对照的NH黑人的粗/调整比值比(aOR)和95%置信区间(95CIs)。总病例/对照如下:美国-(2,773/1101);外国人-(343/151);非洲出生(161/64)。研究参与者还按在美国居住的年数进行了检查(≤5vs.6年以上)。
    与美国出生相比,外国出生的NHBlack控制者往往年龄较大,接受了更多年的教育,更有可能拥有更高的家庭收入。他们以前的分娩也较少,肥胖的可能性也较小。在调整后的分析中,两组缺损明显减弱:肢体缺损,aORs/95CIs=(0.44[0.20-0.97])和间隔缺损(0.69[0.48-0.99])。在按居住在美国的年份分层后,在美国居住6年以上的人群中,脑积水的风险(2.43[1.03-5.74])变得明显.当限制非洲出生的母亲时,这些发现均无统计学意义.
    外国出生的NH黑人患一些选定缺陷的风险降低。在限制非洲出生的母亲后,结果是一致的,并且按美国居住的年份进行分层时,结果没有显着变化。
    There are noted birth defects prevalence differences between race/ethnicity groups. For instance, non-Hispanic (NH) Black mothers are more likely to have an infant with encephalocele, although less likely to have an infant with anotia/microtia compared to NH Whites. When stratifying by nativity and years lived within the United States, additional variations become apparent.
    Data from the National Birth Defects Prevention Study were used to calculate descriptive statistics and estimate crude/adjusted odds ratios (aORs) and 95% confidence intervals (95%CIs) among NH Blacks with one of 30 major defects and non-malformed controls. Total case/controls were as follows: U.S.- (2,773/1101); Foreign- (343/151); African-born (161/64). Study participants were also examined by number of years lived in the U.S. (≤5 vs. 6+ years).
    Compared to U.S.-born, foreign-born NH Black controls tended to be older, had more years of education, and were more likely to have a higher household income. They also had fewer previous livebirths and were less likely to be obese. In the adjusted analyses, two defect groups were significantly attenuated: limb deficiencies, aORs/95%CIs = (0.44 [0.20-0.97]) and septal defects (0.69 [0.48-0.99]). After stratifying by years lived in the United States, the risk for hydrocephaly (2.43 [1.03-5.74]) became apparent among those having lived 6+ years in the United States. When restricting to African-born mothers, none of the findings were statistically significant.
    Foreign-born NH Blacks were at a reduced risk for a few selected defects. Results were consistent after restricting to African-born mothers and did not change considerably when stratifying by years lived in the United States.
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  • DOI:
    文章类型: Journal Article
    Nocturnal enuresis (NE) was defined by the World Health Organization (ICD-10) and the American Psychiatric Association (DSM-5) as bed-wetting in children aged >5 years. In cases of mental retardation, the developmental age may be equivalent to 5 years. In this review, we focus on the current knowledge about the etiology of enuresis and the most recent therapeutical options. Both non-pharmacological and pharmacological therapies are included, although the relative effectiveness of each remains uncertain. To date, motivational, alarm and drug therapies are the mainstay of treatment. Alarm therapy remains the first-line treatment modality for NE, while desmopressin is the most commonly used medical treatment.
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