malformation

畸形
  • 文章类型: Case Reports
    Galen动脉瘤性静脉畸形是一种罕见的先天性脑血管畸形。这是胚胎血管持续存在的结果,导致多个动静脉分流。这种畸形可引起多种症状,从心力衰竭到头痛,具体取决于就诊年龄。在胎儿中,心脏表现很少见,并且与非常差的预后有关。这就是为什么产前诊断在早期发现和管理中至关重要。我们介绍一例Galen动脉瘤畸形的静脉,产前超声诊断。新生儿广泛发展为高输出心力衰竭。产前诊断有助于早期发现这种畸形并预测预后。
    The vein of Galen aneurysmal malformation is a rare congenital malformation of the cerebral blood vessels. It is a result of the persistence of an embryonic vessel that drains multiple arteriovenous shunts. This malformation can cause a multitude of symptoms ranging from cardiac failure to headaches depending on the age of presentation. In the fetus, cardiac manifestations are rare and are linked to a very poor prognosis. That\'s why prenatal diagnosis is crucial in early detection and management. We present a case of a vein of Galen aneurysmal malformation, diagnosed prenatally with ultrasonography. The newborn developed widely a high-output cardiac failure. Prenatal diagnosis facilitates the early detection of this malformation as well as predicting the prognosis.
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  • 文章类型: Case Reports
    完全小脑发育不全是一种极其罕见的疾病,其特征是完全没有小脑组织。只有少数病例报告,有不同的运动和认知缺陷。我们描述了一个11个月大的婴儿发育迟缓的案例,其CT扫描评估显示小脑完全缺失,没有其他相关的脑畸形。
    Complete cerebellar agenesis is an extremely rare condition characterized by the complete absence of cerebellar tissue. Only a small number of cases have been reported, with varying motor and cognitive deficits. We describe a case of an 11-month-old baby with developmental delay, whose CT scan evaluation showed the complete absence of the cerebellum with no other associated cerebral malformation.
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  • 文章类型: Case Reports
    动脉lusoria或食管后右锁骨下动脉是主动脉弓最常见的畸形。它可能被发现与气道和/或食管压迫的一些症状,如呼吸困难或吞咽困难,但在大多数情况下,这是一种无症状的病理。我们报告了一例3个月大的唐氏综合征患者,因偶然发现食管后右锁骨下动脉而因肺部感染入院。
    The arteria lusoria or retroesophageal right subclavian artery is the most common malformation of the aortic arch. It may be discovered with some symptoms of airway and/or esophageal compression, such as dyspnea or dysphagia, but in most cases it is an asymptomatic pathology. We report a case of a 3 months old patient diagnosed with Down syndrome who was admitted for pulmonary infection with incidental finding of retrooesophageal right subclavian artery.
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  • 文章类型: Case Reports
    临床,描述了3例绵羊先天性脑积水(病例1、2和3)的脑电图和神经病理学特征。观察到的神经体征反映了端脑和脑干的损伤。在情况1和情况2中执行的脑电图显示出不同的模式:在情况1中是对称和同步的高压缓慢活动,在情况2中是低压缓慢活动。通过验尸,在所有的动物中,心室系统的扩张,尤其是侧脑室,观察到与扩张的心室周围的神经胶质反应有关。仅在病例3中,左桥小脑角的单外侧脑膜增厚似乎是阻塞性脑积水的原因。在其他两个大脑中(案例1和2),没有发现脑积水的潜在解剖原因,即使,在病例2中,由于大脑中度发育不全和存在非化脓性炎症,因此不排除代偿形式.这项工作的结果为绵羊脑积水病例的EEG表征做出了贡献;但是,对更多绵羊进行的进一步多学科研究可以更好地表征绵羊脑积水病例的EEG模式。
    The clinical, electroencephalographic and neuro-pathological features of three cases (cases 1, 2 and 3) of congenital hydrocephalus in sheep were described. The observed neurological signs reflected damage in the telencephalon and brain stem. The electroencephalogram performed in case 1 and case 2 showed different patterns: symmetric and synchronous high-voltage slow-activity in case 1, and low-voltage slow-activity in case 2. By the post-mortem examination, in all the animals, dilatation of the ventricular system, especially of the lateral ventricles, associated with a glial reaction surrounding the dilated ventricles was observed. Only in case 3, a monolateral meningeal thickening at the left cerebellopontine angle seemed to be responsible for the obstructive hydrocephalus. In the other two brains (case 1 and 2), no potential anatomical cause for the hydrocephalus were detected, even if, in case 2, a compensatory form was not excluded due to the moderate hypoplasia of the cerebrum and the presence of the non-suppurative inflammation. The results of this work provide a contribution to the EEG characterisation in ovine hydrocephalus cases; nevertheless further multidisciplinary studies of a larger number of sheep could permit to better characterise the EEG pattern in ovine hydrocephalus cases.
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  • 文章类型: Journal Article
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  • 文章类型: Journal Article
    先天性面神经(FN)畸形并不常见。我们的目的是确定FN畸形以及相关的耳蜗和前庭畸形的临床和放射学特征。我们进行了一项回顾性研究,包括患有严重的感音神经性听力损失的儿童,他们是人工耳蜗植入的候选人。我们通过颞骨计算机断层扫描和磁共振成像评估了FN畸形的存在。我们在总共9只耳朵的165例患者中记录了5例异常的FN病程。它们由乳突部分的分叉组成,迷路节段的前或后移位和膝状神经节发育不全。相关的内耳畸形包括前庭导水管扩张,耳蜗发育不全和完全迷路发育不全。我们注意到三名患者的耳蜗神经双侧发育不全。患有先天性听力损失的患者应怀疑面神经畸形,尤其是与其他颞骨畸形有关。他们的术前发现有助于计划外科手术。
    Congenital facial nerve (FN) malformations are uncommon. Our aim is to determine the clinical and radiological features of FN malformations along with the associated cochlear and vestibular malformations. We conducted a retrospective study including children with a profound sensorineural hearing loss who were candidates for cochlear implantation. We evaluated the presence of FN malformations through temporal bone computed tomography scan and magnetic resonance imaging. We recorded an aberrant FN course in five out of 165 patients in a total of 9 ears. They consisted of a bifurcation of the mastoid segment, an anterior or posterior displacement of the labyrinthine segment and a hypoplasia of the geniculate ganglion. Associated inner ear malformations included vestibular aqueduct dilation, cochlear hypoplasia and total labyrinthine aplasia. We noted a bilateral agenesis of the cochlear nerve in three patients. Facial nerve malformations should be suspected in patients presenting a congenital hearing loss especially in association with other temporal bone malformations. Their pre-operative discovery is helpful in planning the surgical procedure.
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  • 文章类型: Case Reports
    在全世界的兽医物种和人类中已经报道了与遗传和致畸相关的心脏先天性缺陷。其中,异位(EC),其特征是通过裂隙外化的心脏,在绵羊中极为罕见。本报告介绍了新生儿羔羊中两例完整的胸部EC的诊断特征。羔羊的临床发现,除了欧共体,平淡无奇。两种动物都表现出心脏外裂,没有心包覆盖,在胸廓裂隙中由心包和邻近皮肤的纤维环划定。组织学上,两只羔羊的心外膜被纤维组织增厚,一只动物也表现出明显的水肿,出血,和嗜中性炎症浸润。本研究羔羊EC的预后较差,尽管尝试了手术矫正,但仍有致命的结果。
    Cardiac congenital defects related to inheritance and teratogenesis have been reported in veterinary species and humans worldwide. Among these, ectopia cordis (EC), characterized by an externalized heart through a cleft, is extremely rare in sheep. This report presents the diagnostic features of two cases of complete thoracic EC in newborn lambs. Clinical findings in the lambs, aside from the EC, were unremarkable. Both animals exhibited exteriorized hearts without pericardial coverage, delineated in the thoracic cleft by a fibrous ring of the pericardium and adjacent skin. Histologically, the epicardium was thickened by fibrous tissue in both lambs, with one animal also showing marked edema, hemorrhage, and neutrophilic inflammatory infiltration. The prognosis of EC in the lambs of this study was poor, with fatal outcomes despite attempts at surgical correction.
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  • 文章类型: Journal Article
    这项研究研究了温度如何影响日本树蛙(日本树蛙)对微塑料(MP)污染的反应,评估温度是否可以调节国会议员对其生活史的有害影响以及国会议员在栖息地的扩散。本分析旨在了解MP污染的生态和生理后果。我们的结果表明MP颗粒在两栖动物变态中的个体发育转移,可能允许和促进国会议员在生态系统中的易位。温度没有显着影响水生MPs向陆地的转运。然而,高温可显着降低由MP引起的死亡率和后肢畸形,从而减轻它们对两栖动物生活史的有害影响。重要的是,我们的研究发现,在两栖动物变态过程中,MPs会导致后肢畸形,可能与氧化应激有关。此外,MP暴露和摄入诱导了消化道形态的可塑性反应和粪便微生物组的变化,这在高温下很明显,但在低温下却没有。即使青蛙过渡到陆地阶段,国会议员的影响仍然存在,暗示国会议员可能有复杂的,对两栖动物种群可持续性的长期影响。我们的结果增强了对MP带来的复杂环境挑战的理解,并强调了温度在体外遗传影响和污染物相互作用方面的重要作用。
    This study examines how temperature influences the response of Japanese tree frogs (Dryophytes japonicus) to microplastic (MP) pollution, assessing whether temperature can regulate the harmful effects of MPs on their life history and the dispersal of MPs across habitats. This analysis aims to understand the ecological and physiological ramifications of MP pollution. Our results demonstrated an ontogenetic transfer of MP particles across amphibian metamorphosis, possibly allowing and facilitating the translocation of MPs across ecosystems. Temperature did not significantly affect the translocation of aquatic MPs to land. However, high temperatures significantly reduced mortality and hindlimb deformities caused by MPs, thereby mitigating their harmful impact on amphibian life histories. Importantly, our study found that MPs cause hindlimb deformities during amphibian metamorphosis, potentially linked to oxidative stress. Additionally, MP exposure and ingestion induced a plastic response in the morphology of the digestive tract and changes in the fecal microbiome, which were evident at high temperatures but not at low temperatures. The effects of MPs persisted even after the frogs transitioned to the terrestrial stage, suggesting that MPs may have complex, long-term impacts on amphibian population sustainability. Our results enhance the understanding of the intricate environmental challenges posed by MPs and underscore the significant role of temperature in ectotherms regarding ontogenetic impacts and pollutant interactions.
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  • 文章类型: Case Reports
    血管瘤被认为是生长缓慢的良性肿瘤。原发性甲状腺血管瘤并不常见,由于缺乏独特的影像学特征和相关的临床症状,可能难以诊断。在某些情况下,准确识别这些病变以帮助实施非手术治疗计划而不是诉诸外科手术至关重要。在本报告中,我们介绍了一名76岁的女性,她表现出无痛,快速,并在1天内突然注意到右侧颈部肿胀。她的放射学检查引起了对血管内扩张的血管病变的关注。然后,手术切除了,最终确定为原发性甲状腺血管瘤。此外,我们对以前发表的病例进行了文献综述,并讨论了肿瘤病理生理学,临床表现,放射学特征,和鉴别诊断。
    Hemangiomas are considered slow growing benign neoplasms. Primary thyroid hemangiomas are uncommon and may pose difficulty in diagnosis due to absence of distinctive imaging characteristics and related clinical symptoms. It is crucial to precisely identify these lesions to aid in implementing nonsurgical treatment plans rather than resorting to surgical procedures in certain cases. In this report we present a case of a 76-year-old female who presented with painless, rapid, and sudden notice of right-side neck swelling over a 1-day duration. Her radiological examinations raised the concern of a vascular lesion that was emoblized endovascularly. Then, it was surgically removed, which was eventually determined to be primary thyroid hemangioma. In addition, we present a literature review of previously published cases and discuss tumor pathophysiology, clinical presentations, radiology features, and differential diagnosis.
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  • 文章类型: English Abstract
    眶上额叶裂是Tessier在1976年描述的罕见颅面裂之一,通常偶发。它们在这个分类中被编号为9、10和11,并分别位于横向,在轨道上部的中间和中间。它们的临床表现在软组织和骨骼上是可变的,与可能的参与分离。它们的范围从简单的美学缺陷到眼睛功能预后。在这种情况下,需要系统地进行CT扫描。他们的管理必须适应损害的多态性,并基于多学科方法。如果有眼部风险,眼睑重建是紧急情况。在所有其他情况下,治疗被推迟,但必须在早期进行,以确保孩子的健康发展。
    Superior orbital frontal clefts are one of the rare craniofacial clefts described by Tessier in 1976, and occur most often sporadically. They are numbered 9, 10 and 11 in this classification, and are located respectively laterally, in the middle and medially to the upper part of the orbit. Their clinical expression is variable on soft tissue and bone, with possible dissociation of involvement. They range from a simple aesthetic defect to an eyes functional prognosis. CT scans are systematically required in this context. Their management must be adapted to the polymorphism of the damage, and is based on multidisciplinary approach. In case of ocular risk, the eyelid reconstruction is an emergency. In all other cases, treatment is deferred, but must be carried out at an early stage to ensure the child\'s healthy development.
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