Situs Inversus

Situs 倒置
  • 文章类型: Case Reports
    UNASSIGNED: Acute appendicitis is widely recognized as the prevailing abdominal surgical emergency globally, exhibiting an annual incidence ranging from 96.5 to 100 cases per 100,000 adults. Conversely, situs inversus totalis is a rare anatomical anomaly characterized by the complete reversal of the chest and abdominal organs, occurring in approximately 1 out of every 10,000 to 50,000 individuals.
    UNASSIGNED: 53-year-old female patient who presented to the emergency department with a complaint of diffuse abdominal pain of colic nature that had persisted for 5 days. The patient referred systemic hypertension, pre-diabetes mellitus type 2, and situs inversus as relevant medical history. A laparotomy procedure was conducted, revealing a perforated appendix located in the right hypochondrium. Additionally, the patient exhibited situs inversus totalis, with the colon positioned in its normal anatomical location.
    UNASSIGNED: Due to the low incidence of situs inversus totalis, in cases similar to the one presented, the utilization of image studies and laboratory studies is imperative for accurate diagnosis. In the face of diagnostic suspicions and inconclusive paraclinical studies, the most effective approach is to pursue surgical examination and intervention, preferably utilizing laparoscopic techniques.
    UNASSIGNED: la apendicitis aguda es la urgencia quirúrgica abdominal más frecuente en el mundo, con una incidencia anual de 96.5 a 100 casos por 100,000 adultos. Por otra parte, el situs inversus totalis es un trastorno posicional inverso de los órganos torácicos y abdominales con una incidencia de 1 en 10,000 a 50,000 personas.
    UNASSIGNED: paciente del sexo femenino de 53 años que se presentó en sala de urgencias refiriendo dolor abdominal difuso tipo cólico de 5 días de evolución. La paciente refirió hipertensión arterial sistémica esencial, prediabetes mellitus tipo 2 y situs inversus. Se realizó intervención quirúrgica (laparotomía) en la que se encontró el apéndice perforado en hipocondrio derecho y situs inversus totalis con colon en posición anatómica normal.
    UNASSIGNED: debido a la baja incidencia del situs inversus totalis, el diagnóstico en casos como el presentado representa un reto en el que el uso de estudios de imagen y laboratorio resulta indispensable. Ante la sospecha diagnóstica y estudios paraclínicos con resultados no concluyentes, la mejor estrategia consiste en la exploración y el manejo quirúrgicos, preferentemente laparoscópicos.
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  • 文章类型: Case Reports
    多脾综合征是一种胚胎学疾病,胸部和腹部内脏通常的左右不对称无法发展。这是一个罕见的实体,估计发生频率为40,000分之一,通常与心脏和胆道异常有关。超过75%的患者在5岁之前死亡,即使没有心脏异常,只有5%-10%的患者有望存活到成年而没有并发症。尽管多脾综合征包括广泛的解剖异常,没有单一的病理特征。因此,多脾患者的预后取决于他们的解剖结构,因此需要放射学在他们的管理。在这里,我们介绍了一例56岁的男子,患有多脾综合征和全位倒位。这种表现是非典型的,因为多脾症通常被认为是一种形式的位置模糊,完全位倒置的病例极为罕见。我们的病人还注意到大血管的变化,包括主动脉弓分支和腔静脉,这些特征通常与多脾综合征或全位倒位无关。患者健康,基线时无症状,他的诊断是偶然做出的。我们的病例报告是第一个描述这种独特的心胸和心血管解剖学组合的病例。它还强调了放射科医生在照顾有侧向缺陷的患者方面的重要性。由于这些疾病并不常见,有关其解剖变异的更多数据可能有助于为该患者人群提供更好的医疗服务.
    Polysplenia syndrome is an embryological disorder whereby the usual left-right asymmetry of thoracic and abdominal viscera fails to develop. It is a rare entity, estimated to occur at a frequency of 1 in 40,000, and is often associated with cardiac and biliary abnormalities. More than 75% of patients die before the age of 5 years, and even in the absence of cardiac anomalies, only 5%-10% of patients are expected to survive into adulthood without complications. Although polysplenia syndrome encompasses a wide range of anatomic abnormalities, there is no single pathognomonic feature. Hence, the prognosis of patients with polysplenia depends on their anatomy, thus necessitating radiology in their management. Here we present a case of a 56-year-old man with polysplenia syndrome and situs inversus totalis. This presentation is atypical because polysplenia is usually considered a form of situs ambiguus, and cases with situs inversus totalis are exceedingly rare. Also noted in our patient are variations in the great vessels, including aortic arch branches and the venae cavae which are features not typically associated with either polysplenia syndrome or situs inversus totalis. The patient is healthy and asymptomatic at baseline, with his diagnosis being made incidentally. Our case report is the first to describe this unique combination of cardiothoracic and cardiovascular anatomy. It also emphasizes the importance of radiologists in caring for patients with laterality defects. As these disorders are uncommon, more data on their anatomic variations may help provide better medical care to this patient population.
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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: Case Reports
    原发性纤毛运动障碍(PCD)是一种罕见的常染色体隐性遗传疾病,由纤毛功能受损引起。PCD的发病率是每20,000个婴儿中就有1个。Kartagener综合征(KS),PCD的亚型,以反位的存在为特征。KS发生在约32,000至40,000的新生儿中。以完全位倒置的三合会为特征,鼻窦炎,通常是下叶支气管扩张,Kartagener综合征表现出明显的放射学特征,在这个案例研究中进行了探索。我们报道了一名患有Kartagener综合征的青春期男性,在左上叶表现出非典型支气管扩张,导致双侧肺移植,严重的漏斗胸需要手术矫正。该病例记录了一名男性患者并发Kartagener综合征和漏斗胸,支持以前探索过的,尽管这些条件之间存在理论联系。
    Primary Ciliary Dyskinesia (PCD) is a rare autosomal recessive disorder caused by impaired ciliary function. The incidence of PCD is 1 in 20,000 births. Kartagener\'s syndrome (KS), a subtype of PCD, is distinguished by the presence of situs inversus. KS occurs in about 1 in 32,000 to 40,000 births. Characterized by a triad of situs inversus totalis, sinusitis, and typically lower lobe bronchiectasis, Kartagener\'s syndrome presents with distinct radiological features, which are explored in this case study. We report on an adolescent male with Kartagener\'s syndrome, manifesting atypical bronchiectasis in the left upper lobe, leading to a bilateral lung transplant, and severe pectus excavatum requiring surgical correction. This case documents a male patient with concurrent Kartagener\'s syndrome and pectus excavatum, supporting a previously explored, albeit theoretical association between these conditions.
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  • 文章类型: Case Reports
    肥胖患病率随着现代生活方式的增加而增加。减肥手术是维持体重减轻的绝佳方法,最常用的手术是腹腔镜袖状胃切除术(LSG)。在某些情况下,例如全位倒置(SIT),腹腔镜方法可能会受到挑战。我们报告了一位38岁的II级肥胖绅士,已知患有SIT。在完成术前准备后,我们进行了LSG,没有出现并发症.对SIT患者进行任何外科手术的主要困难是解剖结构的逆转。强调解剖学对外科医生的重要性至关重要。正确的术前解剖评估以及外科医生的经验是在罕见的情况下(如SIT)进行LSG或任何减肥腹腔镜手术的关键因素。
    Obesity prevalence is increasing with the modern lifestyle. Bariatric surgery is an excellent method to sustain weight reduction and the most commonly performed surgery is laparoscopic sleeve gastrectomy (LSG). The laparoscopic approach can be challenged in certain conditions such as situs inversus totalis (SIT). We report a 38-year-old gentleman with class II obesity known to have SIT. After complete preoperative preparation, we performed LSG with no complications. The main difficulty of performing any surgical procedure for SIT patients is the reversed anatomy. It is essential to highlight the importance of anatomy for surgeons. Proper preoperative anatomy assessment along with the surgeon\'s experience is the key element to perform LSG or any bariatric laparoscopic procedure in rare conditions such as SIT.
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    文章类型: Case Reports
    与全位倒位相关的性心动过速是一种罕见的先天性异常。我们在此报告了患有这种疾病和缺血性冠状动脉疾病的患者,该患者接受了紧急手术心肌血运重建术。一名76岁的男子因诊断为不稳定型心绞痛而入院。在住院的第二天,他不断的心室纤颤发作。紧急冠状动脉造影显示解剖左前降支和右冠状动脉完全阻塞,解剖学上左旋支动脉严重狭窄。成功进行了使用大隐静脉移植物的紧急非体外循环冠状动脉搭桥术。术中,除了在左旋支动脉的静脉移植物吻合期间,主要外科医生一直站在患者的右侧。除了短暂的肾脏置换和长时间的通气外,术后过程几乎平安无事。
    Dextrocardia associated with situs inversus totalis is a rare congenital anomaly. We herein report a patient with this condition and ischemic coronay artery disease who underwent emergency surgical myocardial revascularization. A 76-year-old man was admitted to our hospital with a diagnosis of unstable angina pectoris. He had incessant ventricular fibrillation attack on the second day of hospitalization. Emergent coronary angiography revealed total obstruction of the anatomically left anterior descending and right coronary arteries, and severe stenosis in the anatomically left circumflex artery. Emergent off-pump coronary artery bypass using saphenous vein grafts was successfully performed. Intraoperatively, the main surgeon continuouly stood on the patient\'s right side except during anastosiso of a vein graft to the left circumflex artery. Postoperative course was almost uneventful aside from transient renal replacement and prolonged ventilation.
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  • 文章类型: Case Reports
    Kartagener综合征是一种罕见的常染色体隐性遗传性纤毛运动障碍。它结合了由支气管扩张组成的三合会,慢性鼻窦炎,和Situs倒置。这项工作旨在描述以Kartagener综合征为模型的原发性纤毛运动障碍的临床和旁临床方面,并强调在我们的背景下确认诊断的困难。我们报告了在小儿肺炎变态反应科收集的Kartagener综合征的四个观察结果(三个男孩和一个女孩,平均年龄为10岁)。在所有病例中均发现慢性支气管溢和耳鼻喉科表现。仅在一例中发现了新生儿呼吸窘迫综合征的迹象。一名儿童的面部畸形特征提示Noonan综合征和传导性听力损失。在一半的病例中发现了数字海马,以及右侧的肺部裂纹和心音。胸部CT扫描显示所有患者均有支气管扩张,其中1例显示坏死性腺病提示肺结核。鼻窦成像显示出现全鼻窦炎。所有儿童均有腹位倒置伴右位心。他们接受了与呼吸物理治疗相关的阿莫西林-克拉维酸抗生素治疗。该女孩受益于右叶切除术,随访18个月,进展良好。根据这四个观察,Kartagener综合征是一种罕见的疾病,但如果早期进行治疗,可以与正常生活相适应。然而,在我们的背景下,确认诊断的困难解释了其延迟与肺部病变进展的风险。
    Kartagener\'s syndrome is an uncommon autosomal recessive ciliary dyskinesia. It combines a triad comprised of bronchiectasis, chronic sinusitis, and situs inversus. This work aims to describe the clinical and paraclinical aspects of primary ciliary dyskinesia using Kartagener\'s syndrome as a model and to highlight the difficulties of confirming the diagnosis in our context. We report four observations (three boys and one girl with an average age of 10 years) of Kartagener\'s syndrome collected in the department of pediatric pneumo-allergology. Chronic bronchorrhea and otorhinolaryngological manifestations were found in all cases. Signs of neonatal respiratory distress syndrome were found in only one case. One child had dysmorphic facial features suggestive of Noonan\'s syndrome and conductive hearing loss. Digital hippocratism was found in half of the cases, along with pulmonary crackles and heart sounds perceived on the right. A chest CT scan showed bronchiectasis in all patients and necrotic adenopathy suggestive of tuberculosis in one case. Sinus imaging showed an appearance of pansinusitis. All children had abdominal situs inversus with dextrocardia. They had received antibiotic therapy with amoxicillin-clavulanic acid associated with respiratory physiotherapy. The girl had benefited from a right lobectomy with a follow-up of 18 months and a good evolution. In light of these four observations, Kartagener\'s syndrome is a rare disease but can be compatible with normal life if the treatment is done early. However, in our context, the difficulty of confirming the diagnosis explains its delay with the risk of progression of pulmonary lesions.
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  • 文章类型: Journal Article
    冷冻球囊消融已被确立为肺静脉隔离的有效方法,并且最近已对其在持续性房颤患者的左心房顶部区域进行基质修饰的功效进行了研究。我们在此报告了第一个成功的左心房后壁隔离的病例,包括在持续性心房颤动患者中使用冷冻球囊进行屋顶线消融。右位心,和Situs倒置。冷冻球囊消融被证明是一种安全而直接的方法,可以沿着左心房顶部线和左心房后壁产生持久的损伤。即使在具有挑战性的解剖条件下。
    Cryoballoon ablation has been established as an effective method for pulmonary vein isolation and has recently been investigated for its efficacy of substrate modification on the left atrial roof area in patients with persistent atrial fibrillation. We herein report the first successful case of left atrial posterior wall isolation including roof line ablation using cryoballoons in a patient with persistent atrial fibrillation, dextrocardia, and situs inversus. Cryoballoon ablation proved to be a safe and straightforward approach to create lasting lesions along the left atrial roof line and left atrial posterior wall, even under challenging anatomical conditions.
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  • 文章类型: Case Reports
    由于相对于正常解剖结构的镜像器官放置,内位使诊断和治疗复杂化。本报告描述了一名78岁的女性患者,该患者因胆囊结石和胆总管结石而接受了腹腔镜胆囊切除术和腹腔镜胆总管探查术。利用“法国镜像技术”进行端口放置,在相反的解剖学环境中,外科医生熟练地用左手2毫米的针钳和右手5毫米的镊子反映了标准操作。这项技术保持了熟悉的手部动作,尽管病人独特的解剖结构。外科医生应用经胆囊导管胆管探查术,使用胆道镜检查进行导管探查,并使用篮式导管进行结石清除。腹腔镜胆囊切除术和通过经胆囊导管途径的胆总管探查对于反位患者是可行且有效的。
    Situs inversus complicates diagnosis and treatment due to the mirrored organ placement in relation to normal anatomy. This report describes a 78-year-old female patient with situs inversus totalis who underwent laparoscopic cholecystectomy and laparoscopic common bile duct exploration for cholecystolithiasis and choledocholithiasis. Utilizing the \"French mirror technique\" for port placement, the surgeon adeptly mirrored standard maneuvers with a 2-mm needle forceps in the left hand and a 5-mm forceps in the right in a reversed anatomical setting. This technique maintained familiar hand movements, despite the patient\'s unique anatomy. The surgeon applied transcystic ductal bile duct exploration, using choledochoscopy for duct exploration and a basket catheter for stone removal. Laparoscopic cholecystectomy and common bile duct exploration through the transcystic ductal route are viable and effective for patients with situs inversus.
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  • 文章类型: Journal Article
    活动纤毛的缺陷,称为能动纤毛病,导致影响呼吸系统和生殖系统的临床表现,以及侧向缺陷和脑积水。我们先前定义了双等位基因MNS1变异,导致坐位倒置和男性不育,反映了Mns1-/-小鼠的发现。这里,我们介绍了5个新发现的个体的临床和基因组发现,这些个体来自4个无关的受MNS1相关疾病影响的家庭.纤毛病组测试和全外显子组测序确定了一个先前报道的和两个新的MNS1变体,扩展了疾病的基因型谱。确认了广泛的侧向缺陷,包括全位倒置和异位性。有趣的是,一名患有MNS1无义变异的6岁女孩纯合子,有新生儿呼吸窘迫综合征病史,反复呼吸道感染,慢性鼻炎,还有湿咳.因此,免疫荧光分析显示该个体的呼吸道上皮细胞不存在MNS1。另外两个具有低态变异的个体显示出侧向缺陷和轻度呼吸表型。这项研究代表了在具有双等位基因MNS1变体的个体中异位性和呼吸系统疾病的首次观察。与MNS1相关的能动纤毛病相关的表型的重要扩展。
    Defects in motile cilia, termed motile ciliopathies, result in clinical manifestations affecting the respiratory and reproductive system, as well as laterality defects and hydrocephalus. We previously defined biallelic MNS1 variants causing situs inversus and male infertility, mirroring the findings in Mns1-/- mice. Here, we present clinical and genomic findings in five newly identified individuals from four unrelated families affected by MNS1-related disorder. Ciliopathy panel testing and whole exome sequencing identified one previously reported and two novel MNS1 variants extending the genotypic spectrum of disease. A broad spectrum of laterality defects including situs inversus totalis and heterotaxia was confirmed. Interestingly, a single affected six-year-old girl homozygous for an MNS1 nonsense variant presented with a history of neonatal respiratory distress syndrome, recurrent respiratory tract infections, chronic rhinitis, and wet cough. Accordingly, immunofluorescence analysis showed the absence of MNS1 from the respiratory epithelial cells of this individual. Two other individuals with hypomorphic variants showed laterality defects and mild respiratory phenotype. This study represents the first observation of heterotaxia and respiratory disease in individuals with biallelic MNS1 variants, an important extension of the phenotype associated with MNS1-related motile ciliopathy disorder.
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