Twins

双胞胎
  • 文章类型: Case Reports
    母马双胎妊娠是流产的主要原因之一。堕胎总是影响两个胎儿。本报告描述了一个不寻常的情况,即在7岁的埃及阿拉伯母马中,双胞胎在9个月时流产了双胞胎。在妊娠9个月流产时,流产胎儿的大小相当于大约5个月大的一个,而同胎的同胎的年龄为9个月.两个胎儿都是男性。从流产的胎儿收集皮肤样本,从大坝收集头发样本,父亲和活马驹进行亲子关系分析。亲子关系分析证实,两个胎儿都是同一个大坝和父亲种马。作者提出了几种情况来解释这种情况。本报告描述了一个独特的情况,即双胞胎在母马中9个月时流产后存活到足月。
    Twin pregnancy in mares is one of the leading causes of abortions. Abortion invariably impacts both fetuses. This report describes an unusual case of a twin surviving to term following the abortion of its co-twin at 9 months in a 7-year-old Egyptian Arabian mare. At the time of abortion at 9 months of gestation, the size of the aborted fetus was equivalent to one of approximately 5 months of age while the age of the live co-twin was 9 months. Both fetuses were males. A skin sample was collected from the aborted fetus and hair samples were collected from the dam, sire and live foal for parentage analysis. The parentage analysis confirmed that both fetuses were by the same dam and sire stallion. The authors suggest several scenarios to explain this condition. This report describes a unique case of a twin surviving to term following the abortion of its co-twin at 9 months in a mare.
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  • 文章类型: Journal Article
    单胚胎体外受精后,父母在第10周了解到怀了双胞胎,并有各种迹象表明可能发生了胚胎混淆。因此,受影响的夫妇表示迫切需要澄清考虑堕胎的父母身份。然而,产前检查结果要到怀孕14/15周才能获得.法律上,然后,医生必须声称孕妇的严重身体或精神困扰,以证明第十二周后堕胎是合理的。然而,缺乏遗传相关性可能会给父母带来严重的心理困扰,即使在第十二周之后也可以终止妊娠,这在这个案例研究中与跨学科团队的伦理一起讨论,legal,和医学考虑。对于侵入性关系测试,使用经典的短串联重复序列(STR)分析对未出生的绒毛膜绒毛样本(CVS)和推定父母的唾液样本进行了遗传分析。两个CVS剖面的完美匹配表明发生了不寻常的晚期双轴,为此,幸运的是,父母是可以确认的。据我们所知,这是关于辅助生殖技术(ART)后疑似胚胎混合的产前调查的第一份报告,父母身份应该是固定的。我们想提请注意这个不可思议的场景,未来随着ART引起的多胎妊娠的增加,这种情况可能会增加。
    After in vitro fertilization with a single embryo, the parents learned about being pregnant with twins in the 10th week with various indications that an embryonic mix-up could have taken place. The affected couple thus expressed the urgent desire for a clarification of parenthood considering an abortion. However, the prenatal test results would not have been available until the 14/15th week of pregnancy. Legally, then, severe physical or mental distress of the pregnant woman must be claimed by physicians to justify an abortion after the twelfth week. However, a lack of genetic relatedness could lead to serious psychological distress for the parents, making a pregnancy termination possible even after the twelfth week, which is discussed in this case study alongside the interdisciplinary team\'s ethical, legal, and medical considerations.For the invasive relationship testing, cultivated chorionic villi samples (CVS) from both unborn and saliva samples from the putative parents were genetically analyzed using classical short tandem repeats (STR) analysis. The perfect match of both CVS profiles suggested the occurrence of an unusual late twin shaft, for which, fortunately, parenthood could be confirmed. To our knowledge, this is the first report on a prenatal investigation of a suspected embryo mix-up after assisted reproductive technology (ART), in which parenthood should be fixed. We want to draw attention to this unthinkable scenario, which may increase in the future with ART-induced rising multiple pregnancies.
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  • 文章类型: Review
    背景:双角子宫妊娠的处理尤其具有挑战性。双角子宫是一种罕见的现象,双角子宫中的双胎妊娠更为罕见。这些怀孕需要深入的诊断调查和跨学科护理。
    方法:我们报告了一名27岁的欧洲女性患者(gravidaI,para0)在胚胎移植后在双角双颈子宫的每个腔中同时怀孕。通过宫腔镜和腹腔镜检查证实了病情。在每个玉米的胚胎移植之前,已经进行了几次失败的体外受精(IVF)尝试。在妊娠12+6周和22+0周进行差异筛查的生理妊娠过程后,患者在27+2周时出现治疗抵抗收缩.最终导致主胎的自然分娩和第二个胎儿的自然分娩延迟。
    结论:世界范围内仅有16例双颈单颈子宫双胎妊娠报告,6例双颈子宫双胎妊娠报告。这种怀孕的主要风险是早产,宫内生长受限,表现异常和先兆子痫。在上述情况下,双胎妊娠的这些典型风险因素大大增强。
    结论:存在子宫畸形的双胎妊娠是罕见且难以处理的。必须收集和报告这些罕见病例,以便制定出监测和治疗的算法,并为其管理提出适当的建议。
    BACKGROUND: The management of a pregnancy in a bicornuate uterus is particularly challenging. A bicornuate uterus is a rare occurrence and a twin pregnancy in a bicornuate uterus even more rare. These pregnancies call for intensive diagnostic investigation and interdisciplinary care.
    METHODS: We report on a 27-year-old European woman patient (gravida I, para 0) with a simultaneous pregnancy in each cavity of a bicornuate bicollis uterus after embryo transfer. The condition was confirmed by hysteroscopy and laparoscopy. Several unsuccessful in vitro fertilization (IVF) attempts had been performed earlier before embryo transfer in each cornus. After a physiological course of pregnancy with differential screening at 12 + 6 weeks and 22 + 0 weeks of gestation, the patient presented with therapy-resistant contractions at 27 + 2 weeks. This culminated in the uncomplicated spontaneous delivery of the leading fetus and delayed spontaneous delivery of the second fetus.
    CONCLUSIONS: Only 16 cases of twin pregnancy in a bicornuate unicollis uterus have been reported worldwide and only 6 in a bicornuate bicollis uterus. The principal risks in such pregnancies are preterm labor, intrauterine growth restriction, malpresentation and preeclampsia. These typical risk factors of a twin pregnancy are greatly potentiated in the above mentioned setting.
    CONCLUSIONS: A twin pregnancy in the presence of a uterine malformation is rare and difficult to manage. These rare cases must be collected and reported in order to work out algorithms of monitoring and therapy as well as issue appropriate recommendations for their management.
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  • 文章类型: Case Reports
    我们已经描述了一个药物成瘾的单卵双胞胎中合成卡西酮引起的精神障碍的临床病例。这个临床病例很独特,因为它提供了观察孪生兄弟依赖综合征奇异性的许多特征的机会:药物选择;使用药物的动机;和多个,其中一个兄弟的长期精神病。我们对此案进行了为期12个月的随访。该案例证实了对精神障碍的基本理解的缺乏,并强调了进一步研究药物引起的精神病的临床特征的重要性,特别是那些由新型精神活性物质如合成卡西酮引起的。
    We have described a clinical case of psychotic disorder induced by synthetic cathinones in one drug-addicted monozygotic twin. This clinical case is unique, because it offers the opportunity to observe many features of the singularity of the dependence syndrome in twin brothers: drug choice; motivation to use drugs; and the development of multiple, long-lasting psychoses in one of the brothers. We pursued a twelve-month follow-up of this case. The case substantiates the paucity of a fundamental understanding of mental disorders and highlights the importance of further research into the clinical features of drug-induced psychoses, especially those induced by novel psychoactive substances such as synthetic cathinones.
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  • 文章类型: Case Reports
    Alstrom综合征是属于常染色体隐性遗传病的最罕见的单基因纤毛病之一。Alstrom综合征的病理生理学尚不清楚,但根据现有的医学文献,其机制可能与Alstrom综合征1(ALSM1)基因的隐性突变有关,从而导致各种多器官受累和预后不良。此外,在同一时期内双胞胎中同时发生这种综合征被认为是罕见的。
    自新生儿期以来,双胎双胎双胎双胎双胎双胎双胎的健康父母所生男性,有明显的产前和出生史,双胎双眼视力下降。在整个童年时期,该疾病在没有任何确证诊断的情况下进展,在此期间,双胞胎在11岁时同时发生了多个系统受累,例如两个双胞胎的合法失明,胰岛素抵抗和糖尿病的特征,感觉神经性听力损失,亚临床甲状腺功能减退症和各种紊乱的代谢小组。经过全外显子组测序,两个双胞胎在16岁时就诊断出了Alstrom综合征。
    基于遗传特征的alstrom综合征是一种独特的诊断。除了其多器官受累的特点,在此类综合征患者的诊断和治疗过程中,还应关注其进展和预后.在这种情况下的诊断延迟也是一个令人关注的问题,其可导致进一步延迟停止疾病本身的不利影响。由内生学家参与的多学科方法,眼科医生和听力学家可以提高患者的生活质量。
    AlstromHallgren综合征是罕见的遗传性疾病之一,预后不良。在我们的案例中,我们提出了双胞胎的经典发现,这些双胞胎同时被诊断为Alstrom综合征,并且进一步的疾病同时进展。
    UNASSIGNED: Alstrom syndrome is one of the rarest monogenic ciliopathy belonging to autosomal recessive disorder. The pathophysiology of Alstrom syndrome is not well understood but based upon the available medical literature its mechanism can be linked with recessive mutation in Alstrom syndrome 1(ALSM1) gene resulting in various multiple organ involvement and poor prognosis. Moreover the co-occurrence of such syndrome simultaneously in twins in same period of time is considered rare.
    UNASSIGNED: Monochorionic diamniotic twins male born to healthy parents with significant antenatal and natal history along with decreased vision in both eyes in both twins since neonatal period. Throughout the childhood the disease progressed without any confirmatory diagnosis during which the twins underwent simultaneous multiple systemic involvement such as legal blindness in both twins at the age of 11 years, insulin resistance and features of diabetes mellitus, sensorineural hearing loss, subclinical hypothyroidism and various deranged metabolic panels. Certain diagnosis of Alstrom syndrome was made at the age of 16 years in both twins after whole-exome sequencing.
    UNASSIGNED: Based on genetic profile alstrom syndrome is a unique diagnosis. Along with its multi-organ involvement features, its progression and prognosis should also be looked upon while diagnosis and management in such syndromic patients. The diagnostic delay in such cases is also a matter of concern which can result in further delay in halting adverse effects of the disease itself. The multidisciplinary approach with involvement of endocrionologist, ophthalmologist and audiologist can bring upon improvement in quality of life of the patients.
    UNASSIGNED: With the prevalence of 1 in million cases Alstrom Hallgren syndrome is one of the rare genetic disorder with poor prognosis. In our case we present classical findings in twins who were diagnosed as Alstrom syndrome concurrently and further diseases progressed simultaneously.
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  • 文章类型: Case Reports
    Diprosopus是一种先天性异常,其中发生部分或完全的颅面结构重复。因为它很罕见,死亡率很高,关于这种异常的信息很少。这项研究描述了一个9岁男性的人类diprosopus病例,有严重的中枢神经并发症,心血管,呼吸,和消化系统。自出生以来,他在专门的医院环境中接受了监控,在那里他经历了几次手术和多学科治疗。关于颅面方面,他有call体发育不全,鼻腔的地板,和前颅窝的地板,除了骨发育不良,眼球过度过度和腭裂伴鼻腔和口腔畸胎瘤。关于牙齿特征,病人的上颌骨有重复,下颌骨,舌头,还有一些牙齿.补充影像学检查后,发现了几颗多余的牙齿,有些受到影响,在复杂的地区,由于撞击的风险,有提取的迹象,颠覆性偏差,根吸收,和相关的囊性或肿瘤性病变。由于众多的并发症,知识,整个团队的准备对于正确管理案件是必要的。
    Diprosopus is a congenital anomaly in which partial or complete duplication of craniofacial structures occurs. Because it is rare, the mortality rate is high, and information concerning this anomaly is scarce. This study describes a case of human diprosopus in a 9-year-old male individual, who has severe complications associated with the central nervous, cardiovascular, respiratory, and digestive systems. Since birth, he has been monitored in a specialized hospital environment, where he has undergone several surgeries and multidisciplinary treatments. Regarding the craniofacial aspects, he had agenesis of the corpus callosum, floor of the nasal cavity, and floor of the anterior cranial fossa, in addition to the presence of bone dysplasia, ocular hypertelorism and cleft palate with nasal and oral teratoma. Regarding dental characteristics, the patient has duplication of the maxilla, mandible, tongue, and some teeth. After complementary imaging exams, several supernumerary teeth were found, with some being impacted and in complex regions, with an indication for extraction due to the risks of impaction, irruptive deviation, root resorption, and associated cystic or tumoral lesions. Because of the numerous complications, knowledge, and preparation of the entire team is necessary for the correct management of the case.
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  • 文章类型: Case Reports
    背景:我们介绍了一个独特的单卵女性双胞胎病例,其临床和放射学表现几乎相同,为幕上脑积水和鞍上池囊性形成。
    结论:评估遗传易感性和产前暴露对双胞胎脑积水至关重要。家族性病例意味着遗传对这些异常的发展有贡献,包括染色体异常和与各种综合征中蛛网膜囊肿形成相关的特定变异。广泛的遗传分析发现双胞胎中没有致病变异。怀孕期间已知产前暴露于抗癫痫药物,可能与胎儿异常有关。但不是中枢神经系统(CNS)畸形,因此不被认为是双胞胎病情的原因。由鞍上囊肿(SAC)引起的同时出现脑积水的双胞胎接受了两步手术治疗:最初的脑室-腹膜分流术(VPS)放置,然后开窗。术后影像学显示囊肿减少,但在这两种情况下都需要进行二次VPS。
    结论:在非综合征性SAC病例中,遗传分析不太可能确定单基因病因,它们被认为是多因素的。没有确定的证据将抗癫痫药物的致畸作用与CNS畸形联系起来。此外,这种复杂情况的手术治疗构成了讨论的重点。
    BACKGROUND: We present a unique case of monozygotic female twins with virtually identical clinical and radiological presentations of supratentorial hydrocephalus and cystic formations from the suprasellar cistern.
    CONCLUSIONS: Evaluating genetic predispositions and prenatal exposures is crucial for hydrocephalus in twins. Familial cases imply a genetic contribution to the development of these anomalies, including chromosomal abnormalities and specific variants linked to arachnoid cyst formation in various syndromes. Extensive genetic analyses found no pathogenic variants in the twins. Prenatal exposure to anti-epileptic medication was known during pregnancy and may be associated with fetal abnormalities, but not central nervous system (CNS) malformations, and was therefore not considered the cause of the condition in the twins. The twins presenting simultaneously with hydrocephalus caused by suprasellar cysts (SAC) underwent a two-step surgical management: initial ventriculoperitoneal shunt (VPS) placement followed by fenestration. Postoperative imaging showed cyst reduction, but a secondary VPS was necessary in both cases.
    CONCLUSIONS: Genetic analysis is less likely to identify a monogenic etiology in non-syndromic cases of SACs, which are assumed to be multifactorial. There is no established evidence linking a teratogenic effect of anti-epileptic drugs to CNS malformations. Moreover, the surgical treatment of this complex condition constitutes a point of discussion.
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  • 文章类型: Review
    背景:Beckwith-Wiedemann综合征(BWS,OMIM#130,650)是一种儿科过度生长障碍,涉及肿瘤发展的易感性。尽管受影响患者的临床管理已经确立,尚不清楚如何处理受影响患者的兄弟姐妹的病例,因为双胞胎(1:1000)的患病率是单胎(1:10000)的十倍。
    方法:我们报告了一个早产双胎患者的病例,在她的随访期间,出现了与BWS相符的临床表型,在血液中得到基因证实。然而,在几乎表型正常的同胞中也发现了该疾病的甲基化改变特征,这让她的管理层感到羞愧.
    结论:通过我们的病例报告,我们强调了如何在没有任何产前怀疑的情况下做出BWS的诊断,我们建议对相关文献进行综述,以了解如何处理双胞胎患者的兄弟姐妹。
    BACKGROUND: Beckwith-Wiedemann syndrome (BWS, OMIM #130,650) is a pediatric overgrowth disorder involving a predisposition to tumor development. Although the clinical management of affected patients is well established, it is less clear how to handle with the cases of siblings of affected patients, since the prevalence of the condition in twins (1:1000) is ten times higher than in singletones (1:10000).
    METHODS: We report the case of a premature twin patient who during her follow-up develops a clinical phenotype compatible with BWS, genetically confirmed in blood. However, the methylation alteration characteristic of the condition was also found in the almost phenotypically normal sibling, making it challening her management.
    CONCLUSIONS: Through our case report we highlight how the diagnosis of BWS can be made without any prenatal suspicion and we propose a review of the literature on how to manage siblings of affected patients in twinning situation.
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  • 文章类型: Case Reports
    肠道病毒是全球急性病毒性疾病的最常见原因之一。在新生儿中,这些感染的临床过程是异质的。严重并发症,比如心肌炎,与高死亡率有关。在这个案例报告中,我们介绍了胎龄35周时出生的早产双胞胎的临床过程,患有严重的新生儿肠道病毒感染并累及心脏,其中一对双胞胎被证明是致命的。该课程导致迅速识别另一对双胞胎,并促进及时转移到具有新生儿血液动力学专业知识的新生儿重症监护病房。并促进及时转移到具有血液动力学专业知识的新生儿重症监护室,并立即获得AZCMO。另一对双胞胎的早期支持疗法有助于获得积极的结果。因此,我们强调及早认识对避免不良后果的重要性。作为一个建议,我们建议在发热新生儿的病毒面板中常规筛查肠道病毒。
    Enteroviruses are among the most common causes of acute viral illness worldwide, and in neonates, the clinical course of these infections is heterogeneous. Severe complications, such as myocarditis, are associated with high mortality rates. In this case report, we present the clinical course of premature twins born at 35 weeks of gestational age, suffering from a severe neonatal enterovirus infection with cardiac involvement, which proved fatal in one of the twins. This course led to prompt identification in the other twin and facilitated timely transfer to a neonatal intensive care unit with neonatal hemodynamic expertise, and facilitated the timely transfer to a neonatal intensive care nit with hemodynamic expertise and immediate availability of AZCMO would it have been indicated. Early supportive therapy in the other twin contributed to a positive outcome. Therefore, we emphasize the importance of early recognition in averting adverse consequences. As a recommendation, we propose routine screening of enterovirus in viral panels for febrile newborns.
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  • 文章类型: Case Reports
    无功能垂体腺瘤(NFPA)在育龄女性中很少见。我们介绍了一名37岁的孕妇在中期妊娠,诊断为双胎妊娠的有症状的垂体大腺瘤。磁共振成像(MRI)证实了一个明确的大腺瘤压缩视交叉,因此需要手术。患者在全身麻醉下接受了经鼻蝶入路肿瘤切除术。由于同时考虑妊娠和神经外科手术,麻醉管理提出了挑战。感应,维护,监测,和液体管理被仔细地执行。患者经历了氧饱和度的短暂下降,随着肺部募集动作的改善。手术成功,没有任何并发症。术后,进行了眼科咨询,这表明病人的视力有所改善,如视野检查结果所证明。稍后,她在怀孕36周零6天时产下了健康的双胞胎。这个案例突出了多学科的方法和细致的麻醉管理的重要性,当处理怀孕患者接受非产科手术时,确保最佳的母胎灌注,并最大程度地减少对母亲和胎儿的风险。
    Non-functioning pituitary adenomas (NFPAs) are rare in females of reproductive age. We present the case of a 37-year-old pregnant woman in her second trimester with a diagnosis of symptomatic pituitary macroadenoma with twin pregnancy. Magnetic resonance imaging (MRI) confirmed a well-defined macroadenoma compressing the optic chiasm, thus necessitating surgery. The patient underwent transnasal transsphenoidal resection of the tumor under general anesthesia. Anesthesia management posed challenges due to concurrent considerations of pregnancy and neurosurgery. Induction, maintenance, monitoring, and fluid management were carefully performed. The patient experienced a transient decrease in oxygen saturation, which improved with lung recruitment maneuvers. The surgery was successful without any complications. Postoperatively, an ophthalmology consultation was done, which showed an improvement in the patient\'s vision, as evidenced by the perimetry findings. Later, she delivered healthy twins at 36 weeks and six days of gestation. This case highlights the importance of a multidisciplinary approach and meticulous anesthetic management when dealing with pregnant patients undergoing non-obstetric surgery, ensuring optimal maternal-fetal perfusion and minimizing risks to both the mother and the fetus.
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