Situs Inversus

Situs 倒置
  • 文章类型: Case Reports
    背景:卵黄囊瘤(YST)是一种高度恶性的生殖细胞肿瘤,其中大部分起源于性腺,子宫内膜极为罕见。
    方法:这里我们介绍一例42岁女性,患有原发性子宫内膜纯卵黄囊瘤,并伴有全位倒位。患者出现在我们医院的不规则阴道出血。影像学检查显示宫颈占位病变,血清甲胎蛋白(AFP)水平明显较高(超过1210ng/ml)。然后她接受了全子宫切除术,双侧附件卵巢切除术和盆腔淋巴结清扫术。术后病理诊断为子宫内膜产生的卵黄囊瘤。接下来,患者接受平阳霉素化疗6个周期,依托泊苷和顺铂方案存活13个月,没有复发或远处转移的证据。
    结论:这种罕见疾病需要与子宫内膜上皮瘤区分开来,AFP的显着升高有助于诊断。结合以往的文献报道,综合分期剖腹手术或最大限度的细胞减灭术辅以标准化疗通常可以取得良好的疗效。
    BACKGROUND: Yolk sac tumor (YST) is a highly malignant germ cell tumor, a majority of which originate from the gonads and are extremely rare from endometrium.
    METHODS: Here we present a case of a 42-year-old woman suffered from primary pure yolk sac tumor of the endometrium complicated with situs inversus totalis. The patient presented at our hospital with irregular vaginal bleeding. Imageological examination showed a space-occupying lesion in the cervix and the serum Alpha-fetoprotein (AFP) level was significantly high (more than 1210ng/ml). Then she underwent total hysterectomy, bilateral salpingo-oophorectomy and pelvic lymph node dissection. The subsequent postoperative pathological diagnosis was yolk sac tumor arising from the endometrium. Next, the patient was treated with 6 cycles of chemotherapy with Pingyangmycin, etoposide and cisplatin regimen and was alive without evidence of recurrence or distant metastases for 13 months.
    CONCLUSIONS: This rare disease needs to be differentiated from endometrial epithelial neoplasia and the significant increase in AFP is helpful for diagnosis. Combined with previous literature reports, comprehensive staging laparotomy or maximum cytoreductive surgery complemented by standard chemotherapy can usually achieve a good efficacy.
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  • 文章类型: Case Reports
    背景:坐位倒位(SI)是一种罕见的先天性异常,其中全身器官和血管位于其正常位置的镜像中。关于患有这种疾病的人的一个有趣的问题是他们是否也具有逆转的大脑不对称性。大多数关于这个问题的研究表明,类似于许多内脏排列正常的人,患有SI的患者在语言功能方面具有左半球优势。
    方法:我们报告了一例患有完全反位的患者罕见的语言异常脑支配现象。右撇子患者在颈动脉支架置入术后出现失语,脑磁共振成像显示右顶叶脑梗死。
    结论:我们患者的语言和内脏位置倒置的异常大脑优势可能是由于单一的,发育梯度的遗传编码非典型性。
    BACKGROUND: Situs inversus (SI) is a rare congenital anomaly in which systemic organs and vessels are positioned in a mirror image of their normal positions. An interesting issue regarding individuals with such a condition is whether they also have reversed brain asymmetries. Most of studies on this issue indicate that, similarly to many people with normal visceral alignment, patients with SI have a left hemispheric dominance for language functions.
    METHODS: We report a rare occurrence of anomalous cerebral dominance for language in a patient with complete situs inversus. The right-handed patient developed aphasia after carotid stenting, and brain magnetic resonance imaging showed cerebral infarction in the right parietal lobe.
    CONCLUSIONS: Anomalous cerebral dominance for language and visceral situs inversus in our patient both may result from a single, genetically coded atypicality of developmental gradient.
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  • 文章类型: Journal Article
    背景:在中国2022年12月严重急性呼吸道综合征冠状病毒2(SARS-CoV-2)激增后的几个月中,超声诊断胎儿倒位的急剧增加,这使我们调查了母亲SARS-CoV-2暴露是否与胎儿倒位的风险升高有关。
    方法:在这个多机构中,以医院为基础,配对病例对照研究,我们调查了在妊娠20~24周时在我们医院接受超声胎儿生物特征评估的孕妇.根据分娩日期,每位携带倒位胎儿的孕妇与四个对照组随机匹配。相关信息,包括SARS-CoV-2感染,和其他潜在的危险因素被收集。使用条件逻辑回归来测试不同孕周胎儿倒位与SARS-CoV-2感染之间的可能关联以及个体危险因素。
    结果:共纳入了在2023年1月1日至10月31日期间诊断为胎儿位置倒置的52名孕妇和208名与正常胎儿相匹配的对照。我们发现胎儿位置倒置的风险增加与妊娠SARS-CoV-2感染或其他危险因素之间没有关联。然而,胎儿位置倒置与SARS-CoV-2感染显着相关,特别是在4-6孕周(校正比值比[aOR]6.54[95%置信区间1.76-24.34]),但在其他胎龄没有感染,在调整协变量后。
    结论:在4-6孕周,胎儿位置倒置的风险增加与母亲SARS-CoV-2感染显著相关,对应于人类内脏侧化的胎儿发育窗口。
    背景:中国国家重点研发计划,等。
    BACKGROUND: A dramatic increase in fetal situs inversus diagnoses by ultrasound in the months following the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) surge of December 2022 in China led us to investigate whether maternal SARS-CoV-2 exposure could be associated with elevated risk of fetal situs inversus.
    METHODS: In this multi-institutional, hospital-based, matched case-control study, we investigated pregnant women who underwent ultrasonographic fetal biometric assessment at gestational weeks 20-24 at our hospitals. Each pregnant woman carrying a situs inversus fetus was randomly matched with four controls based on the date of confinement. Relevant information, including SARS-CoV-2 infection, and other potential risk factors were collected. Conditional logistic regression was used to test possible associations between fetal situs inversus and SARS-CoV-2 infection at different gestational weeks as well as individual risk factors.
    RESULTS: A total of 52 pregnant women diagnosed with fetal situs inversus between January 1 and October 31, 2023 and 208 matched controls with normal fetuses were enrolled. We found no association between an increased risk of fetal situs inversus with gestational SARS-CoV-2 infection or with other risk factors. However, fetal situs inversus was significantly associated with SARS-CoV-2 infection specifically in gestational weeks 4-6 (adjusted odds ratio [aOR] 6.54 [95% confidence interval 1.76-24.34]), but not with infection at other gestational ages, after adjusting for covariates.
    CONCLUSIONS: Increased risk of fetal situs inversus is significantly associated with maternal SARS-CoV-2 infection at gestational weeks 4-6, corresponding to the fetal developmental window for visceral lateralization in humans.
    BACKGROUND: National Key R&D Program of China, etc.
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  • 文章类型: Journal Article
    背景:左右偏侧障碍是由胸和腹内器官和脉管系统在左右轴上的位置或方向改变引起的一组异质性障碍。它们主要包括倒位和异位。这些疾病因心血管异常而复杂化,其频率明显高于原位。
    方法:在本研究中,使用单核苷酸多态性阵列(SNP-arry)结合全外显子组测序(WES)评估了16例胎儿诊断为先天性心脏缺陷(CHD)的侧向障碍的患者。
    结果:尽管拷贝数变异的诊断率为0,WES的诊断率为6.3%(1/16),最终确定了可能的致病基因DNAH11和候选基因OFD1。此外,在DNAH11基因中发现了新的复合杂合突变和OFD1基因中发现了新的半合子变体。在合并的冠心病中,单心房/单心室的发病率最高(50%,8/16),其次是房室间隔缺损(37.5%,6/16)。值得注意的是,尸检中还发现了2例罕见的常见肺静脉闭锁(CPVA)。
    结论:本研究确定了在偏侧障碍患者中具有高发病率的冠心病类型。很明显,WES是诊断偏侧疾病的有效工具,可以在未来的研究中发挥重要作用。
    BACKGROUND: Left-right laterality disorders are a heterogeneous group of disorders caused by an altered position or orientation of the thoracic and intra-abdominal organs and vasculature across the left-right axis. They mainly include situs inversus and heterotaxy. Those disorders are complicated by cardiovascular abnormalities significantly more frequently than situs solitus.
    METHODS: In this study, 16 patients with a fetal diagnosis of laterality disorder with congenital heart defects (CHD) were evaluated with a single nucleotide polymorphism array (SNP-arry) combined with whole-exome sequencing (WES).
    RESULTS: Although the diagnostic rate of copy number variations was 0 and the diagnostic rate of WES was 6.3% (1/16), the likely pathogenic gene DNAH11 and the candidate gene OFD1 were ultimately identified. In addition, novel compound heterozygous mutations in the DNAH11 gene and novel hemizygous variants in the OFD1 gene were found. Among the combined CHD, a single atrium/single ventricle had the highest incidence (50%, 8/16), followed by atrioventricular septal defects (37.5%, 6/16). Notably, two rare cases of common pulmonary vein atresia (CPVA) were also found on autopsy.
    CONCLUSIONS: This study identified the types of CHD with a high incidence in patients with laterality disorders. It is clear that WES is an effective tool for diagnosing laterality disorders and can play an important role in future research.
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  • 文章类型: Case Reports
    背景:全位倒位是一种罕见的器官错位,通常涉及呼吸道病变,循环,或泌尿系统。先天性半椎骨合并全位倒置的病例极为罕见,报道有限。
    方法:我们报告了一个2.5岁的女孩,患有2个先天性半锥体和完整的内脏倒置,最终接受了半椎板切除术。
    方法:先天性半椎体合并全位倒位。
    方法:患者接受半椎板切除术。
    结果:脊柱畸形得到纠正。
    结论:对于脊柱畸形合并全位倒位的患者,手术可以是一种有效的治疗方法。但我们也需要对各种系统的功能障碍保持警惕。
    BACKGROUND: Situs inversus totalis is a rare malposition of organs that typically involves lesions in the respiratory, circulatory, or urinary systems. Cases of congenital hemivertebrae combined with situs inversus totalis are extremely rare and have limited reports.
    METHODS: We report a 2.5 years old girl with 2 congenital hemipyramids and complete visceral inversion who ultimately underwent hemilaminectomy.
    METHODS: Congenital hemivertebrae combined with situs inversus totalis.
    METHODS: The patient underwent hemilaminectomy.
    RESULTS: The spinal deformity was corrected.
    CONCLUSIONS: For patient with spinal deformities combined with situs inversus totalis, surgery can be an effective treatment method. But we also need to be vigilant about the dysfunction of various systems.
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  • 文章类型: Journal Article
    背景:坐位倒位是一种罕见的先天性疾病,由腹胸器官的镜像移位定义。它与不同疾病的风险增加有关,例如,先天性心脏缺陷和原发性纤毛运动障碍。最近,一些报道称,COVID-19大流行后,坐位倒置的发病率增加。
    目的:探讨母体COVID-19感染与胎儿坐位倒置发生风险的关系。
    方法:选取2022年1-5月和2023年在济南市妇幼保健院接受胎儿超声检查的所有孕妇。采用卡方检验评估母体COVID-19感染与胎儿倒位发生率的关系。
    结果:总共8381名患者,招募了25名患有situsinversus的胎儿。共有3956名患者患有COVID-19,而4400名患者没有。在25位胎儿坐位倒置的母亲中,22人患有COVID-19,3人最近没有感染。我们的分析显示,COVID-19与胎儿坐位倒置的高风险之间存在很强的联系(P<.001,比值比8.196)。
    结论:妊娠早期母亲COVID-19感染与胎儿位置倒置发生的风险增加有关。因此,在这一领域的进一步研究似乎是必要的。
    BACKGROUND: Situs inversus is a rare congenital condition, defined by the mirror-image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID-19 pandemic.
    OBJECTIVE: To investigate the association between maternal COVID-19 infection and fetal situs inversus occurrence risk.
    METHODS: All pregnant women who underwent fetal ultrasound examinations at Jinan Maternal and Child Health Hospital from January to May of 2022 and 2023 were recruited. A chi-square test was conducted to assess the association of maternal COVID-19 infection with the incidence rate of fetal situs inversus.
    RESULTS: A total of 8381 patients, including 25 with situs inversus fetuses were recruited. A total of 3956 patients had COVID-19, while 4400 did not. Among 25 mothers with situs inversus fetuses, 22 had COVID-19 and 3 without recent infection. Our analysis showed a strong link between COVID-19 and a higher risk of fetus situs inversus (P < .001, odds ratio 8.196).
    CONCLUSIONS: Maternal COVID-19 infection in the early stages of the pregnancy is associated with an increased risk of fetal situs inversion occurrence. Therefore, further research in this field seems necessary.
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  • 文章类型: Review
    背景:使用电子可视化双腔支气管导管(E-visualDLT)可以在单肺通气期间实现出色的手术可视化。全位倒位(SIT)是一种罕见的常染色体隐性遗传病,其中与普通人群相比,个体左侧和右侧的支气管和肺叶结构相反。在SIT的情况下,将左侧电子视觉DLT置入右支气管可能提供更有利的单肺通气。然而,尚未报道使用E-visualDLT单肺通气麻醉技术进行SIT的实例.
    方法:我们提供了一个病例报告,详细说明了在一名36岁男性诊断为SIT的全身麻醉下有效实施可视化单肺通气技术。该患者有纵隔肿块,并使用左侧入路对纵隔肿块进行了胸腔镜切除。
    方法:根据对比增强胸部计算机断层扫描(CT)结果,患者被诊断为SIT并伴有纵隔肿块。建议进行手术干预以减轻由肿块引起的心脏压迫。然而,麻醉的管理和处理带来了显著的挑战,因为临床麻醉医师遇到了相互矛盾的数据和数量有限的循证指南.
    方法:在麻醉开始前召开多学科会议,制定综合策略。在整个麻醉管理中,我们的团队确保了细致的监控,提供足够的氧合,建立了血流动力学平衡。麻醉小组审议并设计了一项计划,通过右支气管采用左侧电子视觉DLT放置,用于SIT患者的右侧单肺通气。对麻醉诱导过程进行重复模拟以保证患者安全。
    结果:由于麻醉的细致有效管理和监督,手术按计划完成。随后,在没有任何并发症的情况下,进行了E-visualDLT的移除.
    结论:关于SIT的数据和文献很少,需要彻底的预先规划和准备。
    BACKGROUND: Using an electronic visualized double-lumen endobronchial tube (E-visual DLT) allows for excellent surgical visualization during one-lung ventilation. Situs inversus totalis (SIT) is a rare autosomal recessive genetic condition wherein the bronchial and pulmonary lobar structures on the left and right sides of individuals are reversed compared to those of the general population. In the case of SIT, placing a left-sided E-visual DLT into the right bronchus might offer more advantageous one-lung ventilation. However, there have been no reported instances of using E-visual DLT single-lung ventilation anesthesia techniques for SIT.
    METHODS: We present a case report detailing the effective implementation of a visualized single-lung ventilation technique under general anesthesia in a 36-year-old male diagnosed with SIT. The patient had a mediastinal mass and underwent thoracoscopic resection of the mediastinal mass using a left-sided approach.
    METHODS: Based on the findings from the contrast-enhanced chest computed tomography (CT) results, the patient was diagnosed with SIT along with a mediastinal mass. Surgical intervention was proposed to alleviate the cardiac compression caused by the mass. Nevertheless, the administration and handling of anesthesia posed a notable challenge since clinical anesthesiologists encounter contradictory data and a limited number of evidence-based guidelines.
    METHODS: Convened a multidisciplinary meeting prior to the initiation of anesthesia to formulate a comprehensive strategy. Throughout the anesthetic management, our team ensured meticulous monitoring, delivered sufficient oxygenation, and established hemodynamic equilibrium. The anesthesia team deliberated and devised a plan to employ a left-sided E-visual DLT placement through the right bronchus for right-sided one-lung ventilation in the patient with SIT. The process of anesthesia induction was subjected to repeated simulations to guarantee patient safety.
    RESULTS: Due to the meticulous and effective administration and supervision of anesthesia, the surgery was completed as planned. Subsequently, the removal of the E-visual DLT was executed without any complications.
    CONCLUSIONS: Data and literature about SIT are scarce, necessitating thorough pre-planning and preparation.
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  • 文章类型: Case Reports
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  • 文章类型: Letter
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  • 文章类型: Case Reports
    患有全位倒位肌的患者的结肠癌很少与右位心相关,化疗通常用于治疗。中心静脉接入装置用于对结肠癌患者进行静脉内流体和化疗。与经外周插入的中心导管和Hickman型隧道导管相比,完全植入式血管通路装置(TIVAD)更安全、更有效。然而,对于右心和内位患者,导管尖端的定位可能具有挑战性.我们在此描述了一个新的病例,该病例涉及右心和结肠癌患者,该患者通过腔内心电图辅助尖端定位的TIVAD插入治疗。
    Colon cancer in patients with situs inversus totalis is rarely associated with dextrocardia, and chemotherapy is commonly used for treatment. Central venous access devices are used to administer intravenous fluids and chemotherapy in patients with colon cancer. Compared with peripherally inserted central catheters and Hickman-type tunneled catheters, totally implantable vascular access devices (TIVADs) are safer and more effective. However, positioning the catheter tip may be challenging in patients with dextrocardia and situs inversus. We herein describe a novel case involving a patient with dextrocardia and colon cancer who was treated by TIVAD insertion with intracavitary electrocardiography-aided tip localization.
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