Malformation

畸形
  • 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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  • 文章类型: Journal Article
    目的:探讨矫正后不同严重程度的缩窄耳的治疗时间和疗效。
    方法:我们将2021年12月至2023年12月期间到我院就诊的耳部狭窄患者纳入回顾性分析。病人被分为一类,II和III组基于收缩的严重程度。然后我们收集了每个患者的严重程度分类数据,和性一起,家族史,初始校正时的年龄,在出生后诊断时被告知,以及耳廓矫正系统的利用。进行Logistic回归分析以确定与治疗时间和效率相关的因素。
    结果:矫正系统在收缩的耳朵中产生了很高的有效率。调整这些参数后,与I类相比,II类的治疗时间明显更长。与第一类的情况相比,III类患者的症状和状况显着减弱(95%CI:0.034,0.365;P<0.001),在初始校正时调整年龄后,在出生后诊断时被告知,耳廓矫正系统的应用。校正后,II级和III级之间的治疗效率没有统计学差异。
    结论:惊人的耳朵矫正系统可有效治疗耳朵狭窄,产生令人满意的处理效率。与I类相比,II类收缩的患者需要更长的治疗时间。I类收缩的治疗结果优于III类。
    OBJECTIVE: To investigate the treatment time and efficiency of constricted ears of different severity after correction.
    METHODS: We included the patients with constricted ear presented to our hospital for treatment between December 2021 and December 2023 in this retrospective analysis. The patients were divided into class I, II and III groups based on the severity of the constriction. Then we collected the data on classification of severity from each patient, together with sex, family history, age at initial correction, being informed upon diagnosis after birth, as well as utilization of auricle correction system. Logistic regression analysis was performed to identify the factors associated with the treatment time and efficiency.
    RESULTS: The correction system yielded a high effective rate in the constricted ears. The treatment time in class II was significantly longer compared with those of class I after adjusting these parameters. Compared with the cases of class I, those with a class III showed significant attenuation in the symptoms and conditions (95 % CI: 0.034, 0.365; P < 0.001), after adjusting the age at initial correction, being informed upon diagnosis after birth, and utilization of auricle correction system. There were no statistical differences between class II and III in the treatment efficiency after correction.
    CONCLUSIONS: The Amazing Ear Correction System was effective in treating constricted ear, yielding satisfactory treatment efficiency. Patients with class II constriction required longer treatment time compared with those of class I. The treatment outcome in the class I constriction was better than that of class III.
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  • 文章类型: Journal Article
    目的:本回顾性系统文献综述旨在总结有关流行病学的现有数据,病因学,介绍,调查,差分,治疗,预防,监测,并发症,和儿童患者放射性海绵状畸形(RICMs)的预后。
    方法:按照PRISMA指南进行审查。谷歌学者,PubMed,TripMedicalDatabase,Cochrane图书馆使用一个关键词进行搜索,根据纳入/排除标准过滤的文章,排除重复项。根据标准,确定了25篇文章,7进一步从系统数据中排除,但包括在讨论中(5×数据不足,2×其他系统评价)。
    结果:许多研究并不包含所有探索的数据。2487例患者进行了回顾,325人后来发现有RICM(143名男性,92女)。平均照射年龄7.6岁(范围1.5-19)。平均总辐射剂量56Gy(12-112)。放射髓母细胞瘤的最常见适应症133x,星形细胞瘤23x,室管膜瘤21x,生殖细胞瘤19x.RICM诊断的平均年龄18岁(3.6-57岁)。RICM的平均潜伏期9.9年(0.25-41)。最常见的解剖位置-颞叶36,额叶36,顶叶13,基底节16,幕下20。临床表现-偶发270,癫痫发作19,头痛11,局灶性神经功能缺损7,其他13。264例患者观察,34做手术。RICM在28例患者中出血。平均随访11.7年(0.5-50.3)。预后报告变化很大。
    结论:从我们的数据来看,儿科RICM似乎显示出轻微的男性优势,在青少年后期初次照射后大约10年,在大多数情况下都是偶然出现的。它们大多在出血时进行手术,随着时间的推移,主要观察到附带病变。进一步的前瞻性详细研究需要得出更强有力的结论。
    OBJECTIVE: This retrospective systematic literature review aimed to summarize available data regarding epidemiology, etiology, presentation, investigations, differentials, treatment, prevention, monitoring, complications, and prognosis for radiation-induced cavernous malformations (RICMs) in pediatric patients.
    METHODS: Review conducted per PRISMA guidelines. Google Scholar, PubMed, Trip Medical Database, and Cochrane Library searched utilizing a keyphrase, articles filtered per inclusion/exclusion criteria, duplicates excluded. Based on criteria, 25 articles identified, 7 further excluded from the systematic data but included in discussion (5 × insufficient data, 2 × other systematic reviews).
    RESULTS: Many studies did not contain all explored data. 2487 patients reviewed, 325 later found to have RICM (143 male, 92 female). Mean age at irradiation 7.6 years (range 1.5-19). Mean total radiation dose 56 Gy (12-112). Most common indications for radiation-medulloblastoma 133x, astrocytoma 23x, ependymoma 21x, germinoma 19x. Mean age at RICM diagnosis 18 years (3.6-57). Mean latency to RICM 9.9 years (0.25-41). Most common anatomic locations-temporal 36, frontal 36, parietal 13, basal ganglia 16, infratentorial 20. Clinical presentation-incidental 270, seizures 19, headache 11, focal neurological deficit 7, other 13. 264 patients observed, 34 undergone surgery. RICM bled in 28 patients. Mean follow-up 11.7 years (0.5-50.3). Prognostic reporting highly variable.
    CONCLUSIONS: From our data, pediatric RICMs appear to display slight male predominance, present about 10 years after initial irradiation in late teen years, and present incidentally in majority of cases. They are mostly operated on when they bleed, with incidental lesions mostly being observed over time. Further prospective detailed studies needed to draw stronger conclusions.
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  • 文章类型: Journal Article
    盐酸头孢卡戊酯是孕妇或可能怀孕的妇女经常使用的抗生素。然而,在怀孕的头三个月接触它的安全性尚未评估。在这项研究中,我们旨在阐明妊娠早期暴露对母婴结局的影响.数据来自1988年4月至2017年12月在两家日本机构接受怀孕期间药物使用咨询的孕妇。比较了在妊娠早期服用盐酸头孢布酯(n=270)和对照药物(n=1594)的妇女出生的新生儿在单胎妊娠中主要畸形的发生率。主要畸形发生率的调整比值比使用多变量logistic回归分析计算为在怀孕和母亲年龄期间吸烟。盐酸头孢布酯组的主要畸形发生率为2.6%,对照组为1.8%。盐酸头孢布酯与对照组的发生率无显著差异(调整比值比:1.48[95%置信区间:0.64-3.42],p=0.36)。这项前瞻性队列研究表明,在怀孕的头三个月中暴露于盐酸头孢戊酯与婴儿发生重大畸形的风险增加无关。我们的发现将帮助医疗保健提供者选择合适的药物。
    Cefcapene pivoxil hydrochloride is an antibiotic often used by women who are or may be pregnant. However, the safety of exposure to it during the first trimester of pregnancy has not been assessed. In this study, we aimed to clarify the effects of exposure during the first trimester of pregnancy on maternal and fetal outcomes. Data were obtained from pregnant women who were counseled on drug use during pregnancy at two Japanese facilities from April 1988 to December 2017. The incidence of major malformations in singleton pregnancy was compared between neonates born to women who took cefcapene pivoxil hydrochloride (n = 270) and control drugs (n = 1594) during their first trimester. The adjusted odds ratio of the incidence of major malformations was calculated using multivariate logistic regression analysis adjusted for smoking during pregnancy and maternal age. The incidence of major malformations was 2.6% in the cefcapene pivoxil hydrochloride group and 1.8% in the control group. There were no significant differences in the incidence between the cefcapene pivoxil hydrochloride and control groups (adjusted odds ratio: 1.48 [95% confidence interval: 0.64-3.42], p = 0.36). This prospective cohort study showed that exposure to cefcapene pivoxil hydrochloride during the first trimester of pregnancy was not associated with increased risk of major malformations in infants. Our findings will help healthcare providers in choosing appropriate medicines.
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  • 文章类型: Journal Article
    卡马西平是一种抗惊厥药物,通常用于治疗癫痫和其他神经系统疾病。这项研究的目的是评估卡马西平对产前发育的影响,包括母胎,外部,内脏,和骨骼毒性。此外,本研究旨在研究较低剂量范围口服卡马西平对Wistar大鼠的影响。雌性大鼠随机分为对照组(G1组),口服蒸馏水(n=8),低剂量(G2)组,25mg/kg,中剂量(G3)组,50mg/kg,和高剂量(G4)组,从妊娠日(GD)5-19天通过口服灌胃100mg/kg。计划在妊娠日(GD)20对妊娠雌性大鼠进行尸检。在评估过程中,观察子宫存活或存活胎儿的数量,死去的胎儿,早期吸收,晚期再吸收,黄体数量和每窝性别比(m/f)。Further,胎儿接受母胎检查,包括胎盘观察,羊水,和脐带,然后进行外部评估。此外,一半的胎儿受到内脏,颅面评估和胎儿的另一半通过双重染色法进行骨骼评估,使用AlcianBlue用于软骨,茜素红S用于骨骼。观察到,与对照组相比,中间剂量(G3)组和高剂量(G4)组的妊娠率显著降低。此外,卡马西平治疗导致胎儿畸形显着增加,如大脑中的侧脑室和第三脑室扩张,与对照组(G1)相比,中剂量(G3)组和高剂量(G4)组,大剂量(G4)组输尿管扩张。在中剂量(G3)组中还观察到胎儿骨骼畸形,例如弯曲和结节的肋骨。现有研究基本上支持卡马西平即使在较低剂量范围内也可引起致畸作用和产前发育毒性的说法。
    Carbamazepine is an anticonvulsant medication commonly used to treat epilepsy and other neurological disorders. The purpose of this study was to assess the impact of carbamazepine on prenatal development, including maternal-fetal, external, visceral, and skeletal toxicity. Additionally, the study aimed to investigate the effects of orally administered Carbamazepine at a lower dose range in Wistar rats. Pregnant female rats were randomly distributed into control (G1) group administered with distilled water orally (n=8), low dose (G2) group administered at 25 mg/kg, intermediate dose (G3) group at 50 mg/kg, and high dose (G4) group at 100 mg/kg through oral gavage from gestation day (GD) 5-19. Pregnant female rats were scheduled to necropsy on gestation day (GD) 20. During the evaluation, the uterus was observed for number of live or viable fetuses, dead fetuses, early resorptions, late resorptions, number of corpora lutea and the sex ratio (m/f) per litter. Further, fetuses were subjected to materno-fetal examination which included observation for placenta, amniotic fluid, and umbilical cord followed by external evaluation. Additionally, half of the fetuses were subjected to visceral, craniofacial evaluation and other half of the fetuses were subjected to skeletal evaluation by double staining method using Alcian Blue for cartilages and Alizarin Red S for bones. It was observed that there was a significant decrease in the rate of pregnancy in the intermediate dose (G3) group and in high dose (G4) group when compared with the control group. Moreover, treatment with the Carbamazepine caused significant increase in fetal malformations such as dilation of lateral and third ventricle in brain, in intermediate dose (G3) group and high dose (G4) group when compared with the control (G1) group, dilation of ureters in high dose (G4) group. Fetal skeletal malformations like bent and nodulated ribs were also observed in intermediate dose (G3) group. Existing research substantially supports the claim that carbamazepine can cause teratogenic effects and prenatal development toxicity even at a lower dose range.
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  • 文章类型: Journal Article
    简介:脑组胺被认为是内源性抗惊厥药和组胺H1受体。H1N1拮抗剂,在早期的研究中,被发现诱发抽搐。此外,在过去的二十年中,研究提供了有关在各种动物癫痫模型中研究的组胺H3R(H3R)拮抗剂的抗惊厥活性的更多信息。方法:因此,H3R拮抗剂DL76的体内抗惊厥作用,具有良好的体外亲和力,体外选择性谱,和高体内拮抗剂效力的小鼠对抗最大电休克(MES)诱导的小鼠癫痫发作,被评估。丙戊酸(VPA)用作参考抗癫痫药(AED)。此外,在同一动物物种中测试了DL76的生殖和胎儿毒性。结果和讨论:我们的观察结果表明,急性全身给药(腹膜内;腹膜内)DL76(7.5mg/kg,15mg/kg,30mg/kg,和60mg/kg,i.p.)在雌性和雄性小鼠中提供了针对MES诱导的癫痫发作的显着和剂量依赖性保护。此外,DL76提供的保护作用与VPA提供的保护作用相当,并且当动物共同施用CNS渗透选择性H3R激动剂R-(α)-甲基组胺(RAM,10mg/kg,i.p.)。此外,单次给药(7.5mg/kg,15mg/kg,30mg/kg,或60mg/kg,i.p.)或多剂量(3×15mg/kg,i.p.)的H3R拮抗剂DL76在妊娠第8天或13天(GD)与对照组相比,未能影响小鼠的母体体重。在妊娠早期和器官发生期间,对照组和DL76治疗组之间的平均植入和吸收次数未检测到显着变化。此外,骨骼异常的发生没有显着差异,泌尿生殖系统异常,外脑,exomphalos,面部裂痕,并观察到尾部畸形。在小鼠的治疗组中观察到的唯一的显著异常是长骨的长度和体长。总之,新型H3R拮抗剂DL76可保护受试动物免受MES引起的癫痫发作,并且在体内具有较低的生殖和胎儿畸形发生率,并减少了长骨长度。表明H3R拮抗剂DL76在未来的临床前以及用于治疗癫痫的临床开发中的潜在治疗价值。
    Introduction: Brain histamine is considered an endogenous anticonvulsant and histamine H1 receptor. H1R antagonists have, in earlier studies, been found to induce convulsions. Moreover, research during the last two decades has provided more information concerning the anticonvulsant activities of histamine H3R (H3R) antagonists investigated in a variety of animal epilepsy models. Methods: Therefore, the in vivo anticonvulsant effect of the H3R antagonist DL76, with proven high in vitro affinity, in vitro selectivity profile, and high in vivo antagonist potency in mice against maximal electroshock (MES)-induced seizures in mice, was assessed. Valproic acid (VPA) was used as a reference antiepileptic drug (AED). In addition, DL76 was tested for its reproductive and fetal toxicity in the same animal species. Results and discussion: Our observations showed that acute systemic administration (intraperitoneal; i.p.) of DL76 (7.5 mg/kg, 15 mg/kg, 30 mg/kg, and 60 mg/kg, i.p.) provided significant and dose-dependent protection against MES-induced seizures in female and male mice. Moreover, the DL76-provided protective effects were comparable to those offered by the VPA and were reversed when animals were co-administered the CNS-penetrant selective H3R agonist R-(α)-methylhistamine (RAM, 10 mg/kg, i.p.). Furthermore, the administration of single (7.5 mg/kg, 15 mg/kg, 30 mg/kg, or 60 mg/kg, i.p.) or multiple doses (3 × 15 mg/kg, i.p.) of H3R antagonist DL76 on gestation days (GD) 8 or 13 failed to affect the maternal body weight of mice when compared with the control mice group. No significant alterations were detected in the average number of implantations and resorptions between the control and DL76-treated groups at the early stages of gestation and the organogenesis period. In addition, no significant differences in the occurrence of skeletal abnormalities, urogenital abnormalities, exencephaly, exomphalos, facial clefts, and caudal malformations were observed. The only significant abnormalities witnessed in the treated groups of mice were in the length of long bones and body length. In conclusion, the novel H3R antagonist DL76 protected test animals against MES-induced seizures and had a low incidence of reproductive and fetal malformation with decreased long bone lengths in vivo, signifying the potential therapeutic value of H3R antagonist DL76 for future preclinical as well as clinical development for use in the management of epilepsy.
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