Primary yolk sac tumor of the endometrium combined with situs inversus totalis: a case report and literature review.

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. CASE PRESENTATION: 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.

Anaesthetic implications in situs inversus totalis: A case report.

Situs inversus totalis (SIT) is a rare congenital condition which is characterised by the reversal of orientation of abdominal and thoracic organs where heart is on the right side of the thoracic cavity and liver on the left side, whereas stomach and spleen are on the right side in the abdomen. The reported prevalence of this anomaly is one in 5,000- 20,000 live births. This case reports the anaesthetic management of situs inversus totalis in a 38-year-old male patient, with a history of poorly differentiated adenocarcinoma of the colon, who underwent laparoscopic intervention converted to open nodular excision with incisional hernia repair. The report analyses the anaesthetic implications and challenges associated with situs inversus totalis during surgery, including preoperative evaluation, monitoring techniques and potential complications.

Radiofrequency ablation of persistent atrial fibrillation in a patient with situs inversus totalis and interrupted inferior vena cava.

INTRODUCTION: Catheter ablation of atrial fibrillation (AF) has emerged as the most effective therapy. However, rare anatomical abnormalities such as situs inversus totalis, dextrocardia, or interrupted inferior vena cava can make ablation challenging. METHODS AND RESULTS: We report a case of a 55-year-old woman with situs inversus totalis, dextrocardia, surgical atrial septal defect repair, left-sided dual chamber pacemaker in place, and symptomatic recurrent persistent AF who underwent successful pulmonary vein and posterior wall isolation by the superior access from the left internal jugular vein. CONCLUSIONS: It is a feasible and safe approach with support of transesophageal echocardiography and multiple emerging technologies.

Diagnostic challenge of Creutzfeldt-Jakob disease in a patient with multimorbidity: a case-report.

BACKGROUND: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive and ultimately fatal neurodegenerative condition caused by prions. The clinical symptoms of CJD vary with its subtype, and may include dementia, visual hallucinations, myoclonus, ataxia, (extra)pyramidal signs and akinetic mutism. In the early course of disease however, several clinical symptoms of CJD may mimic those of co-existing morbidities. CASE PRESENTATION: We report a male in his 60s with a history of situs inversus totalis and Churg Strauss syndrome, who presented with speech fluency disturbances, neuropsychiatric symptoms and allodynia, a few months after becoming a widower. Initially presumed a bereavement disorder along with a flare-up of Churg Strauss, his symptoms gradually worsened with apraxia, myoclonic jerks and eventually, akinetic mutism. MRI revealed hyperintensities at the caudate nucleus and thalami, while the cerebrospinal fluid was positive for the 14-3-3 protein and the real-time quick test, making the diagnosis of CJD highly probable. This case illustrates the complexities that may arise in diagnosing CJD when pre-existing multimorbidity may cloud the clinical presentation. We also discuss the potential mechanisms underlying the co-occurrence of three rare conditions (situs inversus totalis, Churg Strauss syndrome, CJD) in one patient, taking into consideration the possibility of coincidence as well as common underlying factors. CONCLUSIONS: The diagnosis of CJD may be easily missed when its clinical symptoms are obscured by those of pre-existing (rare) multimorbidity. This case highlights that when the multimorbidity has neurological manifestations, an extensive evaluation remains crucial to establish the diagnosis, minimize the risk of prion-transmission and provide appropriate guidance to patients and their caregivers.

Situs inversus totalis: A challenge for cardiac resynchronization therapy.

Situs inversus totalis (SIT) is a congenital condition in which the major visceral organs are reversed or in a mirror image from their normal positions that affects one per 10,000 live births. It is associated with dextrocardia (DXC) in which the heart is located on the right side of the chest. We present a challenging cardiac resynchronization therapy (CRT) implantation in a 60-year-old man with SIT-DXC, heart failure, extreme bradycardia, wide QRS, and left ventricular (LV) dysfunction. The procedure was complex due to the mirror-image anatomy and the tortuous origin of the coronary sinus (CS) branches that required a subselection catheter for adequate lead implantation.

Salivary Gland Choristoma in External Auditory Canal: A Case Report.

INTRODUCTION: Salivary gland choristomas have been described in the middle ear but tend not to involve the external auditory canal. CASE PRESENTATION: A 6-year-old boy with situs inversus totalis presented with congenital hearing loss in the left ear due to external auditory canal atresia. High resolution computed tomography of the temporal bone demonstrated a soft tissue obstruction of the external auditory canal with a normal middle ear. Histopathologically, this was a salivary gland choristoma. Post operatively the patient had a facial nerve palsy. CONCLUSION: Salivary gland choristomas of middle ear have been reported, but have not been described with external auditory canal atresia and situs inversus totalis.

Three-dimensional laparoscopic treatment of situs inversus totalis combined with gastric cancer: Case report with review of literature.

Situs inversus totalis (SIT) is a rare congenital disease. Due to the abnormal distribution of blood vessels in the organs of SIT patients, the anatomical structure is different from that of normal people, which increases the difficulty of surgery, especially laparoscopic surgery. However, there are few reports on the treatment of SIT combined with gastric cancer surgery by three-dimensional (3D) laparoscopy. Here, we describe a case of SIT combined with gastric cancer who underwent 3D laparoscopy-assisted distal radical gastrectomy in March 2021 and with a brief review of the literature.

Efficacy and safety of ERCP in patients with situs inversus totalis: multicenter case series and literature review.

BACKGROUND: Endoscopic retrograde cholangiopancreatography (ERCP) in patients with situs inversus totalis (SIT) is rarely understood due to its rarity. Patient position and endoscope manipulation were the main concerns in published case reports. The aim of this study was to investigate the efficacy and safety of ERCP in SIT patients. METHODS: Patients with SIT who underwent ERCP were enrolled in nine endoscopic centers in China. ERCP procedural details and complications in SIT patients were retrieved from electronic medical record. The data was retrospectively analyzed. RESULTS: From 2011 to 2021, totally 14 patients with SIT undergoing ERCP were identified. The mean age was 56.8 years old and the male-female ratio was 5:2. The main indication for ERCP was common bile duct stones (13/14, 92.9%). All procedure were performed by experienced endoscopists. 21.4% (3/14) of patients were under regular position (prone), while 78.6% under modified position (supine, left or right lateral). Difficult cannulation was occurred in 71.4% (10/14) of patients. The rate of successful cannulation was 85.7% (12/14). Complication occurred in 3 patients (3/14, 21.4%), including 1 bleeding, 1 pneumonia and 1 acute myocardial infarction. No post-pancreatitis or death happened. Compared to patients in modified position, those in prone position had numerically less successful cannulations (66.7% vs. 90.9%) and higher adverse events (33.3% vs. 18.2%). CONCLUSIONS: ERCP in patient with SIT is challenging even for experienced endoscopists, modified patient positions might have potential benefits concerning more successful cannulations and less complications. More case experiences are need for comprehensive understanding of ERCP in patients with SIT.

Thoracoscopic AF ablation in situs inversus dextrocardia with interrupted inferior vena cava continuation in azygos vein.

INTRODUCTION: Situs inversus totalis, dextrocardia with interrupted inferior vena cava, and azygos vein continuation concomitant with symptomatic atrial fibrillation requiring ablation. This case was deemed not suitable for percutaneous ablation due to anatomic variations and the lack of case reports in the literature. METHODS AND RESULTS: We performed bilateral thoracoscopic epicardial ablation and epicardial left atrial appendage exclusion. The direct vision allowed for a complete box lesion set with bipolar radiofrequency device. Patient remained in sinus rhythm at the 12-months follow-up. CONCLUSION: Surgical thoracoscopic epicardial ablation is safe and effective also in congenital defects. Multidisciplinary expertise can offer minimally invasive ablation treatments.

Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction.

PROPOSE: To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level. METHODS: To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlations in two patients carrying novel homozygous (missense and frameshift) CCDC103 variants. Whole-exome sequencing, quantitative PCR, Western blot, electron microscopy, immunohistochemistry, immunocytochemistry, and immunogold labelling were performed to characterize CCDC103 expression profiles in reproductive and somatic cells. RESULTS: Our data demonstrate that pathogenic variants in CCDC103 gene negatively affect gene and protein expression in both patients who presented absence of DA on their axonemes. Further, we firstly report that CCDC103 is expressed at different levels in reproductive tissues and somatic cells and described that CCDC103 protein forms oligomers with tissue-specific sizes, which suggests that CCDC103 possibly undergoes post-translational modifications. Moreover, we reported that CCDC103 was restricted to the midpiece of sperm and is present at the cytoplasm of the other cells. CONCLUSIONS: Overall, our data support the CCDC103 involvement in PCD and suggest that CCDC103 may have different assemblies and roles in cilia and sperm flagella biology that are still unexplored.

Rare case of septum primum malposition defect in dextrocardia and situs inversus totalis without heterotaxy syndrome.

Septum primum malposition defect is an extremely rare CHD and is often found in patients with visceral heterotaxy, particularly of the polysplenia type. We describe a unique patient with dextrocardia, situs inversus totalis, and bilateral superior vena caval veins without heterotaxy syndrome who was diagnosed with an interatrial defect and partial anomalous pulmonary venous drainage due to malposition of the septum primum.

"Mirror, Mirror on the Wall" Pediatric liver transplantation in the case of situs inversus totalis with a disrupted inferior vena cava.

We present the unique case of a 15-month-old male born with biliary atresia and situs inversus totalis and disrupted inferior vena cava who underwent a successful liver transplantation. The patient had previously undergone a failed Kasai procedure and presented with persistent hyperbilirubinemia. The patient was transplanted with a left lateral segment donor having standard arterial anatomy. Technical considerations included identifying completely replaced arterial anatomy in the recipient from the superior mesenteric artery and creating a branch patch between the gastroduodenal artery and HA, anastomosing the donor left hepatic vein to confluences of the donor left, middle, and right hepatic veins, using a "lazy-S" configuration of portal vein anastomosis, and suspending the allograft to the abdominal wall. Post-operatively, his liver function tests and total bilirubin normalized and he progressed to tolerating an oral diet with tube-feed supplementation.

Retrolaparoscopic adrenalectomy assisted by three-dimensional reconstructed digital model in a patient with situs inversus totalis.

BACKGROUND: Situs inversus totalis is a relatively rare congenital anomaly. Performing the retrolaparoscopic adrenalectomy for the patient with situs inversus totalis is a skill-demanding and challenging surgical task, which has been even more rarely reported. CASE PRESENTATION: We present a case with a large right adrenal mass (10.2 × 9.4 × 7.9 cm) complicated by situs inversus totalis. This 59-year-old female patient underwent the retrolaparoscopic adrenalectomy in our department. In order to facilitate the surgical orientation and improve the manipulating accuracy, the data from computed tomography images was extracted and the three-dimensional digital model was reconstructed. Under the assistance of preoperative planning and intraoperative navigation by the three-dimensional digital model, the retrolaparoscopic adrenalectomy was technically precise and successful. The targeted adrenal tumor was excised completely with final pathological diagnosis of adrenocortical adenoma. CONCLUSIONS: Retrolaparoscopic adrenalectomy can be performed safely in patients with situs inversus totalis. The assistance of preoperative planning and intraoperative navigation by the reconstructed three-dimensional digital model can facilitate the operation and lead to more precise vessel manipulation and accurate excision of tumor that is both effective and safe.

Variations in vascular anatomy and unilateral adrenal agenesis in a female cadaver with situs inversus totalis.

PURPOSE: Situs inversus totalis is mirror transposition of thoracic and abdominal organs. Very few reports have been published on anatomic dissections of cadavers with this condition. METHODS: This work describes a case of situs inversus totalis identified during the anatomical dissection of a 91-year-old woman. RESULTS: Thoracic and abdominal viscera were inverted, but otherwise normal. The aorta originated from the right ventricle, which exhibited characteristics of the systemic ventricle. The pulmonary artery originated from the left ventricle, which had a tricuspid valve, three papillary muscles, thick trabeculae, a supraventricular crest, and septomarginal trabecula. The atrial situs was concordant with ventricular morphology. Lungs and paranasal sinuses were not suggestive of Kartagener's syndrome. Only the right adrenal gland was present, and variations in vascular anatomy were observed. The latter included: the celiac trunk branching into a phrenic artery, the splenic artery and a right gastric artery; the common hepatic artery originating from the superior mesenteric artery; and, on the left side, two inferior thyroid arteries, both originating from thyrocervical trunk. The occurrence of a double inferior thyroid artery and agenesis of adrenal gland was never communicated in situs inversus. Embryonic origin of celiac trunk and superior mesenteric artery variations could be explained by the separation at higher levels of the longitudinal anastomoses formed between the four roots of omphalomesenteric artery. CONCLUSION: It can be hypothesized that this phenomenon could occur more frequently in situs inversus than in situs solitus. However, the number of cases investigated in such detail is too small to draw firm conclusions.

Thoracoscopic Lung Lobectomy for a Lung Cancer Patient with Situs Inversus Totalis.

Situs inversus totalis is a rare clinical condition that represents a complete mirror image of the normal arrangement of the thoracic and abdominal viscera. There are very few reported cases of lung cancer patients with situs inversus totalis, but this condition requires particular care during surgery. A 61-year-old woman presented to our hospital with an abnormal shadow on chest radiography. Computed tomography revealed a 25×12 mm solitary pulmonary nodule in the left upper lobe (S2) and a complete mirror image of the normal organ arrangement, which findings met the criteria of situs inversus totalis. Preoperative examination revealed left upper lobe lung cancer (c-T1bN0M0 Stage IA), and surgery was planned for diagnosis and treatment. Before the surgery, three-dimensional CT images were reconstructed for a precise evaluation of the pulmonary vessels and bronchi. The nodule was microscopically diagnosed as adenocarcinoma from a frozen section obtained by wedge resection. We performed a left upper lobectomy with lymph node dissection using video-assisted thoracic surgery. The aortic arch was absent from the left thoracic cavity and the left lung was well lobulated into three lobes. Although it revealed a mirror image of the usual arrangement, we could accomplished in the usual procedure and process. Careful preoperative anatomical evaluation and perioperative handling are essential for the prevention of intraoperative injuries and complications in patients with situs inversus totalis.

Scoliosis convexity and organ anatomy are related.

PURPOSE: Primary ciliary dyskinesia (PCD) is a respiratory syndrome in which 'random' organ orientation can occur; with approximately 46% of patients developing situs inversus totalis at organogenesis. The aim of this study was to explore the relationship between organ anatomy and curve convexity by studying the prevalence and convexity of idiopathic scoliosis in PCD patients with and without situs inversus. METHODS: Chest radiographs of PCD patients were systematically screened for existence of significant lateral spinal deviation using the Cobb angle. Positive values represented right-sided convexity. Curve convexity and Cobb angles were compared between PCD patients with situs inversus and normal anatomy. RESULTS: A total of 198 PCD patients were screened. The prevalence of scoliosis (Cobb >10°) and significant spinal asymmetry (Cobb 5-10°) was 8 and 23%, respectively. Curve convexity and Cobb angle were significantly different within both groups between situs inversus patients and patients with normal anatomy (P ≤ 0.009). Moreover, curve convexity correlated significantly with organ orientation (P < 0.001; ϕ = 0.882): In 16 PCD patients with scoliosis (8 situs inversus and 8 normal anatomy), except for one case, matching of curve convexity and orientation of organ anatomy was observed: convexity of the curve was opposite to organ orientation. CONCLUSIONS: This study supports our hypothesis on the correlation between organ anatomy and curve convexity in scoliosis: the convexity of the thoracic curve is predominantly to the right in PCD patients that were 'randomized' to normal organ anatomy and to the left in patients with situs inversus totalis.

Fluorescence cholangiography during laparoscopic cholecystectomy in a patient with situs inversus totalis: a case report and literature review.

BACKGROUND: Situs inversus totalis is a rare autosomal disorder in which the patient's affected visceral organs are a perfect mirror image of their normal positions. Surgery in these patients is technically challenging. Minimally invasive surgery such as laparoscopic cholecystectomy is the standard treatment for symptomatic cholelithiasis, but it can be difficult to perform. Laparoscopic cholecystectomy in patients with situs inversus totalis may be even more technically challenging. Fluorescence cholangiography is a new innovation in the field of navigation surgery. This procedure is safe and easy to perform, its findings are easy to interpret, and it does not require a learning curve or radiographs. It can be used in real time during surgery to identify extrahepatic biliary structures. CASE PRESENTATION: We herein report a case of situs inversus totalis in a Thai patient with a history of biliary pancreatitis. He underwent laparoscopic cholecystectomy with intraoperative fluorescence cholangiography. The operation was successfully completed without complications. To the best of our knowledge, this is the first case report of the use of fluorescence cholangiography during laparoscopic cholecystectomy in a patient with situs inversus. CONCLUSION: Fluorescence cholangiographyis a new navigational surgical technique with which to identify extrahepatic biliary structures. It can be used as an adjunct technique during laparoscopic cholecystectomy to avoid biliary tract injury in difficult cases.

Radiofrequency Pulmonary Vein Isolation in a Patient with Dextrocardia With Situs Inversus Totalis.

BACKGROUND: We present a case report of a 67-year-old male with dextrocardia situs inversus totalis and persistent atrial fibrillation who presented for radiofrequency pulmonary vein isolation. METHODS: Pulmonary vein isolation was performed using the St Jude Medical Ensite NavX 3D mapping system with AccuNav ICE guidance. RESULTS: All pulmonary veins were successfully isolated. The procedure time was 125 mins with a fluoroscopy time of 44.3 mins. The fluoro dose was 2095cGycm2. There were no procedural complications. CONCLUSIONS: Radiofrequency pulmonary vein isolation can be performed safely and successfully in patients with dextrocardia and situs inversus totalis.

A Homozygous Nme7 Mutation Is Associated with Situs Inversus Totalis.

We investigated the cause of situs inversus totalis (SIT) in two siblings from a consanguineous family. Genotyping and whole-exome analysis revealed a homozygous change in NME7, resulting in deletion of an exon causing an in-frame deletion of 34 amino acids located in the second NDK domain of the protein and segregated with the defective lateralization in the family. NME7 is an important developmental gene, and NME7 protein is a component of the γ-tubulin ring complex. This mutation is predicted to affect the interaction of NME7 protein with this complex as it deletes the amino acids crucial for the binding. SIT associated with homozygous deletion in our patients is in line with Nme7(-/-) mutant mice phenotypes consisting of congenital hydrocephalus and SIT, indicating a novel human laterality patterning role for NME7. Further cases are required to elaborate the full human phenotype associated with NME7 mutations.