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A 3‐year‐old crossbreed dog (case 1) and a 3‐month‐old German Shorthaired Pointer (case 2) were presented for acute signs of encephalopathy. A portosystemic shunt (PSS) was suspected based on clinical context and laboratory exam results and was confirmed on computed tomography (CT) angiography in both cases. A left‐sided azygos (case 1) and right‐sided azygos (case 2) continuation of an interrupted caudal vena cava (CVC) and a situs ambiguous (SA) were also observed and considered as incidental findings. Both dogs underwent PSS surgical correction. Postsurgical follow‐up imaging procedures suggested concomitant primary hypoplasia of the portal vein (PHPV) in both cases. [ABSTRACT FROM AUTHOR]

Background: A heart positioned on the right side of the thorax can be more a complex situation than it seems, also the potentially associated congenital cardiopathies are variable. In this regard, patients with dextrocardia presenting with complete atrioventricular block require a thorough anatomical investigation to map the veno-arterial system and potential cardiovascular defects before proceeding with a permanent pacing procedure. Case presentation: A 73-year-old Caucasian woman with no significant medical history presented with syncope. Physical examination showed regular heart sounds with an average heart rate of 35–40 beats per minute and no other relevant physical findings. Chest X-rays revealed a heart positioned in the right hemithorax. A standard electrocardiogram revealed complete atrioventricular block with junctional escape rhythm at nearly 35–40 beats per minute. A transthoracic echocardiogram showed a mirror image dextrocardia without any other remarkable abnormalities. Venogram performed using the left peripheral cephalic vein showed normal venous return into the right atrium positioned on the left side. Surgical intervention consisted of permanent dual chamber pacemaker implantation using the left subclavian vein. Discussion is provided based on the relevant medical literature outlining different potential scenarios with associated cardiac and major vessels abnormalities. Conclusion: This case highlights an atypical presentation of atrioventricular block in a patient with dextrocardia and situs inversus, for whom a successful dual-pacemaker implantation procedure was performed. [ABSTRACT FROM AUTHOR]

The article discusses a case report of a 35-year-old woman with Kartagener's syndrome who was found to have a novel alpha-1 antitrypsin gene variant. Kartagener's syndrome is a genetic condition characterized by bronchiectasis, situs inversus, and sinusitis. The patient underwent testing for alpha-1 antitrypsin deficiency (AATD) due to her diagnosis, revealing a previously unidentified genetic variant. The significance of this variant and its impact on the patient's health remain unknown, highlighting the importance of AATD testing in patients with Kartagener's syndrome. [Extracted from the article]

Primary ciliary dyskinesia (PCD) is predominantly an autosomal recessive disorder that is characterized by recurrent respiratory infections stemming from impaired ciliary motility. Granulomatous polyangiitis is a necrotizing vasculitic disease marked by granulomatous inflammation in the vascular wall that often manifests in the lungs with cavitating nodules, masses and consolidations. A 24-year-old female patient presented to our clinic complaining of dyspnea, productive cough and pleuritic chest pain, and was diagnosed with Kartagener Syndrome based on her situs inversus, bronchiectasis and sinusitis. Subsequent genetic tests and further clinical evaluations, including thoracic CT, revealed findings of cavitating nodules, PR3-ANCA positivity and leukocytic vasculitis from a skin biopsy pathology, confirming the coexistence of PCD and granulomatous polyangiitis. [ABSTRACT FROM AUTHOR]

Background: Situs inversus totalis (SIT), a rare recessive autosomal disease, involves the complete transposition of the thoracic and abdominal viscera in the left-right axis. Patients with SIT combined with lung cancer are extremely uncommon. Case presentation: We present a case of a 57-year-old woman with SIT who underwent uniportal video-assisted thoracoscopic left middle lobectomy for adenocarcinoma of the lung. The procedure was performed safely with adequate anatomical identification and careful intraoperative manipulation based on the preoperative three-dimensional-computed tomography bronchography and angiography (3D-CTBA). The patient's perioperative period was uneventful, and no recurrence was observed 2 year postoperatively. Conclusion: With the preoperative planning of the 3D-CTBA, uniportal video-assisted thoracoscopic lobectomy in lung cancer patients with sit can be performed safely and effectively. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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.

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.

Abstract 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. Case presentation 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. Conclusion Anomalous cerebral dominance for language and visceral situs inversus in our patient both may result from a single, genetically coded atypicality of developmental gradient.

Situs inversus is a rare congenital abnormality characterized by mirror-image transposition of the major visceral organs and vessels. Few reports have discussed the use of mechanical thrombectomy in acute ischemic stroke with situs inversus. We present such a case, to raise awareness and deepen the knowledge on these cases. A 44-year-old man was admitted to our hospital with sudden-onset dysarthria and left-sided paresis. Computed tomography (CT) angiography revealed situs inversus and occlusion in the internal carotid artery. First, intravenous tissue plasminogen activator was administered, followed by immediate reperfusion with mechanical thrombectomy. We achieved thrombolysis in cerebral infarction grade 3. After the procedure, the patient fully recovered. Prompt diagnosis is crucial for rapid recanalization in patients with vascular anomalies such as situs inversus.

Kartagener’s Syndrome, alternatively known as Primary Ciliary Dyskinesia (PCD) is a rare and intricate inherited disorder that impacts the structure and function of cilia, leading to compromised mucociliary clearance. The defining features of this condition consist of chronic sinusitis, situs inversus totalis, and bronchiectasis, forming a characteristic triad. Kartagener’s Syndrome presents numerous challenges in its diagnosis and management, and its clinical implications have significant ramifications for affected individuals. This review aims to comprehensively review and analyse the clinical impact of this syndrome, focusing on the diagnosis, treatment, and management modalities. The ciliary dysfunction in Kartagener’s Syndrome disrupts the mucus clearance and pathogens from the respiratory tract, resulting in chronic infections, progressive lung damage, and respiratory failure in severe cases. Through a narrative review of literature, reviews, and case studies, the authors have explored clinicians’ diagnostic challenges and the advances in genetic testing methods that aid in early and accurate diagnosis. The authors have discussed the multidisciplinary approach to manage Kartagener’s Syndrome, which involves respiratory therapies, antibiotics, and surgical interventions to improve the patient’s quality of life and prevent complications. The review paper also includes in-depth case studies of individuals with Kartagener’s Syndrome, highlighting the variability in clinical presentations and treatment outcomes. These case studies provide valuable insights into the diverse manifestations of this syndrome, further enhancing the existing understanding of the disease and its management. Ultimately, this review is directed to raise awareness among healthcare professionals about Kartagener’s Syndrome, its clinical implications, and its diagnostic and treatment challenges. By shedding light on this rare and intricate genetic disorder, the authors here promote early recognition and proactive management, leading to improved outcomes and better quality of life for individuals with Kartagener’s Syndrome.

Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital anomaly defined by double discordance – atrioventricular and ventricular-arterial. ccTGA frequently has associated lesions, which influence long-term survival.

Background: Heart transplantation in patients with situs inversus is challenging, especially in terms of reconstruction of the systemic venous return. Several rerouting techniques have been presented but are associated with vulnerability to external compression, which might cause hemodynamic instability, especially in the presence of chest deformity. In this study, we report a rare case of successful heart transplantation in the presence of situs inversus and pectus excavatum. Case presentation: A 55-year-old man, with a history of surgeries for corrected transposition of the great arteries with ventricular septal defect, was registered for heart transplantation owing to progression of heart failure. Subsequently, he had undergone a left ventricular assist device implantation; 14 years after registration, he underwent transplantation of the heart with normal anatomy. The inferior vena cava was reconstructed by anastomosing the left atria with a counterclockwise rotation of the donor heart and by lengthening the recipient inferior vena cava with a conduit made of the residual right atrial tissue. The superior vena cava was reconstructed using a donor innominate vein harvested with sufficient length. After successful weaning from cardiopulmonary bypass, the chest could not be closed because the heart was compressed owing to chest deformity, resulting in hemodynamic instability. Therefore, to exclude the left lung, a left pericardial screen was created using a bovine pericardium, allowing the chest to be closed with acceptable hemodynamics. The patient suffered postoperatively from a higher venous pressure, suggesting an obstruction of venous return early after surgery. The obstruction gradually resolved, and the patient was transferred for rehabilitation. Conclusions: Heart transplantation in the presence of situs inversus is challenging; moreover, the presence of pectus excavatum further complicates the procedure. The paradoxically larger left lung and chest deformity compressed and impaired reconstructed systemic venous return. Although intrathoracic exclusion of the left lung was effective, an intraoperative or early postoperative thoracoplasty for pectus excavatum was also a viable option. Patient-specific management is mandatory, depending on the anatomy. [ABSTRACT FROM AUTHOR]

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. Case presentation: 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. Conclusion: Anomalous cerebral dominance for language and visceral situs inversus in our patient both may result from a single, genetically coded atypicality of developmental gradient. [ABSTRACT FROM AUTHOR]

Jerome Wakefield criticizes my biostatistical analysis of the pathological—as statistically subnormal biological part-functional ability relative to species, sex, and age—for its lack of a harm clause. He first charges me with ignoring two general distinctions: biological versus medical pathology, and disease of a part versus disease of a whole organism. He then offers 10 counterexamples that, he says, are harmless dysfunctions but not medical disorders. Wakefield ends by arguing that we need a harm clause to explain American psychiatry's 1973 decision to declassify homosexuality. I reply, first, that his two distinctions are philosophic fantasies alien to medical usage, invented only to save his own harmful-dysfunction analysis (HDA) from a host of obvious counterexamples. In any case, they do not coincide with the harmless/harmful distinction. In reality, medicine admits countless chronic diseases that are, contrary to Wakefield, subclinical for most of their course, as well as many kinds of typically harmless skin pathology. As for his 10 counterexamples, no medical source he cites describes them as he does. I argue that none of his examples contradicts the biostatistical analysis: all either are not part-dysfunctions (situs inversus, incompetent sperm, normal-flora infection) or are indeed classified as medical disorders (donated kidney, Typhoid Mary's carrier status, latent tuberculosis or HIV, cherry angiomas). And if Wakefield's HDA fits psychiatry, the fact that it does not fit medicine casts doubt on psychiatry's status as a medical specialty. [ABSTRACT FROM AUTHOR]

Ivemark’s syndrome or right-isomerism sequence is a rare condition in newborn, manifests with asplenia, complex congenital heart disease, and situs ambiguous. Diagnosis and managing this syndrome remain challenging, especially in developing countries. The mainstay of management involves surgical correction of cardiac abnormalities and infection prevention. We present a case of a newborn who exhibited cyanosis since birth and developed persistent respiratory distress despite intubation. The mother had not undergone fetal echocardiography or other prenatal screening. Upon physical examination, he looked respiratory distress with SpO2 ranging from 29-70%. A systolic murmur was heard during cardiac examination, with no abnormalities observed in the face, abdomen, and extremities. Plain radiographs revealed situs inversus, right-located stomach and midline-located liver. This finding was supported by abdominal ultrasound and MSCT, which showed absence of the spleen and a right-sided pancreas. Echocardiography and cardiac catheterization identified situs ambiguous, along with complex cardiac anomalies. These findings confirmed the diagnosis of Ivemark’s syndrome. Plans were made to transfer the infant to national cardiovascular center for cardiac surgery. Unfortunately, the infant succumbed to infection at three months of age. This case highlights the significant challenges in managing rare diseases, particularly Ivemark’s syndrome in developing countries. Limited access to advanced diagnostic tools and specialized cardiac surgical expertise complicate timely diagnosis and intervention. The potential causes of mortality associated with complex cardiac malformation, the increased risk of severe infections due to asplenia, or a combination of both factors. [ABSTRACT FROM AUTHOR]

Background: Situs inversus totalis (SIT) is a rare congenital anomaly in which the thoracic and abdominal cavity structures are completely opposite to normal. Performing robot-assisted surgery in these patients is difficult because of these anomalies. A few reports have described robot-assisted surgery for rectal cancer in patients with SIT, but no reports to date have described robot-assisted surgery for colon cancer. Case presentation: A 74-year-old female presented with abdominal pain and was diagnosed with ascending colon cancer and SIT. We carefully planned the surgical procedure and performed robot-assisted hemi-colectomy. Although we used unusual port placement, the operation was performed safely. The patient was discharged without any complications. Conclusions: Robot-assisted surgery is safe and efficient for patients with anatomical anomalies. [ABSTRACT FROM AUTHOR]

Introduction: Primary ciliary dyskinesia (PCD) is caused by the dysfunction of motile cilia resulting in insufficient mucociliary clearance of the lungs. This study aimed to map novel PCD variants and determine their pathogenicity in PCD patients in Kuwait. Methods: Herein, we present five PCD individuals belonging to a cohort of 105 PCD individuals recruited from different hospitals in Kuwait. Genomic DNAs from the family members were analysed to screen for pathogenic PCD variants. Transmission electron microscopy (TEM) and immunofluorescence (IF) analyses were performed on the nasal biopsies to detect specific structural abnormalities within the ciliated cells. Results: Genetic screening and functional analyses confirmed that the five PCD individuals carried novel pathogenic variants of DNAH5 causing PCD in three Arabic families. Of these, one multiplex family with two affected individuals showed two novel homozygous missense variants in DNAH5 causing PCD with situs inversus; another multiplex family with two affected individuals showed two newly identified compound heterozygous variants in DNAH5 causing PCD with situs solitus. In addition, novel heterozygous variants were identified in a child with PCD and situs solitus from a singleton family with unrelated parents. TEM analysis demonstrated the lack of outer dynein arms (ODAs) in all analysed samples, and IF analysis confirmed the absence of the dynein arm component of DNAH5 from the ciliary axoneme. Conclusion: The newly identified pathogenic variants of DNAH5 are associated with PCD as well as variable pulmonary clinical manifestations in Arabic families. [ABSTRACT FROM AUTHOR]

Background: Situs inversus totalis (SIT) is a rare congenital condition characterized by the mirror-image reversal of the thoracic and abdominal organs. SIT presents significant challenges during surgical procedures that require anatomical familiarity and dexterity, such as laparoscopic cholecystectomy. Case Presentation: A 73-year-old woman with SIT presented with a 2-day history of left-sided hypochondrial colicky abdominal pain aggravated by food intake and associated with nausea. Physical examination revealed a positive Murphy's sign in the left hypochondrium. Laboratory tests showed leukocytosis and elevated liver enzymes. Imaging (See Figures 1-4) confirmed acute cholecystitis with the gallbladder in the left upper quadrant. The patient was scheduled for laparoscopic cholecystectomy. Preoperative planning involved detailed imaging and coordination with the anesthesiology team. The surgical technique was adapted for SIT, including specific patient positioning and a mirror-image approach. The gallbladder was successfully removed, with careful dissection of the cystic duct and artery. Postoperative management included non-steroidal anti-inflammatory drugs, opioids, and monitoring. The patient's recovery was uneventful, and she was discharged on the third postoperative day with follow-up instructions. The care plan included pain management, regular monitoring, early mobilization, diet progression, and scheduled outpatient visits. Conclusion: Laparoscopic cholecystectomy in patients with SIT requires careful preoperative planning, skilled surgical techniques, and effective team communication. Despite these challenges, successful outcomes are possible with meticulous attention to detail and adaptation to the reversed anatomy. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Kartagener’s Syndrome, alternatively known as Primary Ciliary Dyskinesia (PCD) is a rare and intricate inherited disorder that impacts the structure and function of cilia, leading to compromised mucociliary clearance. The defining features of this condition consist of chronic sinusitis, situs inversus totalis, and bronchiectasis, forming a characteristic triad. Kartagener’s Syndrome presents numerous challenges in its diagnosis and management, and its clinical implications have significant ramifications for affected individuals. This review aims to comprehensively review and analyse the clinical impact of this syndrome, focusing on the diagnosis, treatment, and management modalities. The ciliary dysfunction in Kartagener’s Syndrome disrupts the mucus clearance and pathogens from the respiratory tract, resulting in chronic infections, progressive lung damage, and respiratory failure in severe cases. Through a narrative review of literature, reviews, and case studies, the authors have explored clinicians’ diagnostic challenges and the advances in genetic testing methods that aid in early and accurate diagnosis. The authors have discussed the multidisciplinary approach to manage Kartagener’s Syndrome, which involves respiratory therapies, antibiotics, and surgical interventions to improve the patient’s quality of life and prevent complications. The review paper also includes in-depth case studies of individuals with Kartagener’s Syndrome, highlighting the variability in clinical presentations and treatment outcomes. These case studies provide valuable insights into the diverse manifestations of this syndrome, further enhancing the existing understanding of the disease and its management. Ultimately, this review is directed to raise awareness among healthcare professionals about Kartagener’s Syndrome, its clinical implications, and its diagnostic and treatment challenges. By shedding light on this rare and intricate genetic disorder, the authors here promote early recognition and proactive management, leading to improved outcomes and better quality of life for individuals with Kartagener’s Syndrome. [ABSTRACT FROM AUTHOR]

Previous research reported reversal of the prototypical brain torque in individuals with mirrored visceral topology (situs inversus totalis, SIT). Here, we investigate if typical asymmetry of the posterior intracranial venous system is also reversed in SIT and whether the direction and magnitude of this asymmetry is related to the direction and magnitude of the brain torque. Brain structural MRI images of 38 participants with SIT were compared with those of 38 matched control participants. Occipital and frontal petalia and bending were measured using a standardized procedure. In addition, representative sections of the left and right transverse sinuses were segmented, and their respective volumes determined. Participants with SIT showed general reversal of occipital and frontal petalia and occipital bending, as well as reversal of typical transverse sinus asymmetry. Transverse sinus volume was significantly correlated with several torque measures, such that the smaller transverse sinus was associated with a larger ipsilateral occipital petalia, contralateral occipital bending, and ipsilateral frontal bending. We propose an anatomical mechanism to explain occipital petalia and bending, and conclude that anatomical constraints imposed by the asymmetry of the posterior venous system provide and additional account to elucidate the formation of the human brain torque. [ABSTRACT FROM AUTHOR]

Introduction. Organ transposition due to situs inversus (SI) is a rare condition that makes the diagnosis of acute appendicitis difficult. This condition entails that the patient' symptoms and physical examination findings may be atypical, which requires the use of images for diagnostic confirmation in most cases. Clinical cases. Three cases of appendicitis in patients diagnosed with situs inversus are described. Two of them had a known medical history, while the third case was diagnosed intraoperatively. Results. In two patients it was decided to undergo laparoscopic surgery without additional diagnostic images. The patients progressed satisfactorily. Conclusion. Appendicitis should always be considered in the differential diagnoses in patients with pain in the left iliac fossa. It is essential to diagnose and treat appendicitis effectively to minimize associated complications. The importance of the anamnesis and the examiner's clinical suspicion are vital in these cases, which can be confirmed with diagnostic images. There may be cases where the patient's clinical condition does not allow diagnostic imaging studies to be performed, increasingly supports the use of the laparoscopic approach. It is recommended to consider the laparoscopic approach in the first instance, since it allows us to confirm the diagnosis of situs inversus totalis in case the history is unknown and facilitates timely management of the emergency. [ABSTRACT FROM AUTHOR]

Percutaneous transvenous mitral commissurotomy is an established treatment for rheumatic mitral stenosis. Dextrocardic heart can be affected by rheumatic pathology just like the normal heart. However, it is technically demanding to percutaneous interventions especially the septal puncture which should be done in a mirror image of the normal. Here we are reporting a 45 year old woman with severe rheumatic mitral stenosis with dextrocardia with situs inversus totalis. She has undergone a successful percutaneous transvenous mitral commissurotomy. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

OBJECTIVES End-stage congenital heart disease (CHD) in children with heterotaxy syndrome might necessitate a heart transplant (HTx). An HTx in heterotaxy patients can be associated with several technical (e.g. redo, systemic/pulmonary-venous/situs anomalies, pulmonary artery reconstruction) and extra-cardiac (e.g. ciliary dyskinesia, infections, gastrointestinal) challenges. Our goal was to determine if heterotaxy syndrome is associated with increased early or late transplant risks. METHODS The United Network for Organ Sharing transplant database was merged with the Paediatric Health Information System administrative database to identify children with heterotaxy who received an HTx. Characteristics and outcomes were compared between children with heterotaxy and contemporaneous non-heterotaxy congenital and non-congenital cardiomyopathy control groups. RESULTS After we merged the databases, we divided our cohort of 1122 patients into 3 groups: the heterotaxy (n  = 143), group the non-heterotaxy congenital (n  = 428) group and the cardiomyopathy (n  = 551) group. There were differences in the characteristics between the 3 groups, with the heterotaxy group being comparable to the non-heterotaxy congenital group. The waiting list duration was longer for the heterotaxy than for the non-heterotaxy congenital and cardiomyopathy groups (91 vs 63 vs 56 days, P  < 0.001). Early post-transplant complications were similar for all groups except for operative mortality, which was 1% for the cardiomyopathy and 4% for the heterotaxy and non-heterotaxy congenital groups (P  < 0.001). The post-transplant hospital stay was shorter for the cardiomyopathy (57 days) compared to the non-heterotaxy congenital (99 days) and heterotaxy (89 days) groups (P  < 0.001). Whereas rejection prior to discharge was comparable between the heterotaxy and the CHD groups, it was higher at 1 year for the heterotaxy (22%) than for the non-heterotaxy congenital (19%) and cardiomyopathy (13%) groups (P  < 0.001). Survival at 5 years was superior for the cardiomyopathy (87%) compared to the heterotaxy (69%) and non-heterotaxy congenital groups (78%) (P  < 0.001). For the heterotaxy group, no risk factors affecting survival were identified on multivariable analysis. CONCLUSIONS Regardless of the complexity, an HTx in selected children with heterotaxy is associated with good mid-term outcomes. Despite early results that are comparable to those of other patients with CHD, the increasing rejection rate at 1 year and the relatively accelerated attrition at mid-term warrant further follow-up. Due to database limitations in defining morphologic and surgical details, further work is warranted to delineate anatomical and surgical variables that could affect survival. [ABSTRACT FROM AUTHOR]

Purpose: We aimed to examine the correlation between clinical characteristics and the pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD). Methods: We conducted a retrospective single-center study in patients with PCD followed at the University Hospitals Leuven. We included patients with genetically confirmed PCD and described their genotype, data from ultrastructural ciliary evaluation and clinical characteristics. Genotype/phenotype correlations were studied in patients with the most frequently involved genes. Results: We enrolled 74 patients with a median age of 25.58 years. The most frequently involved genes were DNAH11 (n = 23) and DNAH5 (n = 19). The most frequent types of pathogenic variants were missense (n = 42) and frameshift variants (n = 36) and most patients had compound heterozygous variants (n = 44). Ciliary ultrastructure (p < 0.001), situs (p = 0.015) and age at diagnosis (median 9.50 vs 4.71 years, p = 0.037) differed between DNAH11 and DNAH5. When correcting for situs this difference in age at diagnosis was no longer significant (p = 0.973). Patients with situs inversus were diagnosed earlier (p = 0.031). Respiratory tract microbiology (p = 0.161), lung function (cross-sectional, p = 0.829 and longitudinal, p = 0.329) and chest CT abnormalities (p = 0.202) were not significantly different between DNAH11 and DNAH5 variants. Conclusion: This study suggests a genotype–phenotype correlation for some of the evaluated clinical characteristics of the two most frequently involved genes in this study, namely DNAH11 and DNAH5. [ABSTRACT FROM AUTHOR]

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The article explores the incidence of primary ciliary dyskinesia (PCD) in diverse communities, focusing on the Bedouin-Muslim and Jewish populations in southern Israel. The study conducted at Soroka University Medical Center from 2009 to 2023 revealed a higher incidence of PCD in the Bedouin-Muslim community compared to the Jewish community. While genetic variants causing PCD were more common in the Bedouin-Muslim population, clinical characteristics did not significantly differ between the two groups. The study highlights the importance of tailored clinical and diagnostic strategies in populations with high rates of consanguinity. [Extracted from the article]

The article discusses the challenges of performing laparoscopic sigmoidectomy for colorectal cancer in patients with situs inversus totalis (SIT), a rare congenital anomaly. The surgical procedure is complicated by the mirrored anatomical view and trocar placement required for patients with SIT. The article presents a case study of successful laparoscopic surgery for sigmoid cancer in a patient with SIT, highlighting the importance of anatomical knowledge and careful planning for safe surgery in this specific patient group. [Extracted from the article]

Situs inversus totalis (SIT) with dextrocardia is a rare congenital anomaly that poses a surgical challenge. This case report presents the first known case of a totally 3D endoscopic mitral valve replacement (MVR), which was performed in a 75-year-old woman with SIT and severe functional mitral regurgitation. Despite the anatomical complexity, the procedure was successfully completed using a simplified three-port system and a 3D endoscope by requiring careful preoperative planning and intraoperative adaptation to the mirrored anatomy of SIT. This case report demonstrates the feasibility and potential benefits of totally endoscopic MVR in patients withSIT. [ABSTRACT FROM AUTHOR]

This study presents the modified Cordes method, a novel ultrasonographic technique that provides a precise and practical evaluation of fetal situs during pregnancy, particularly in the first and early second trimesters. This method entails precisely aligning the probe and hand to obtain a clear image of the fetal thorax in the axial plane. The fundamental procedures involve ascertaining the initial location of the fetal head, rotating the probe, aligning the thorax at the center, and positioning the left hand to clearly identify the fetal situs. Tests conducted in many pregnancies have verified that the modified Cordes approach offers prompt and precise identification of fetal situs and is more accessible to acquire, particularly for new practitioners. The modified Cordes approach is a straightforward and reliable technique for establishing the position of the fetus. Its application during the first and early second trimesters improves diagnostic accuracy by minimizing the chances of misinterpretation. This method offers benefits by making the process of determining fetal situs more objective and straightforward for practitioners with varying degrees of experience. [ABSTRACT FROM AUTHOR]

El situs inversus es una enfermedad congénita muy rara que afecta a una de cada 10 000 personas. La revelación desitus inversuspor un síndrome peritoneal es un evento extremadamente raro. Los pacientes con situs inversus tienen una incidencia de 0,016-0,024 % de sufrir apendicitis aguda y generalmente se presentan con alguna complicación. Se presenta el caso de una paciente con peritonitis generalizada de origen apendicular con hallazgo intraoperatorio casual de situs inversus abdominalis.

Dextrocardia with situs inversus totalis is a rare hereditary condition characterized by reversed orientation of the major thoracic and abdominal organs. Though dextrocardia itself is not believed to increase the risk of coronary artery disease, the workup and surgical management of patients with this condition may be technically challenging to heart team clinicians. This report describes the case management of a high-risk 56-year-old man with dextrocardia who presented with multivessel coronary artery disease.

We are sharing a rare presentation of congenital duodenal obstruction with combined intrinsic and extrinsic causes with situs inversus, namely, duodenal stenosis with gastrointestinal malrotation in a neonate. The patient underwent successful exploratory laparotomy, Ladd's procedure, and appendicectomy were carried out. Early recognition of signs and symptoms, prompt corrective surgery, and adequate optimization of metabolic components post-operatively are important to determine the decreased morbidity and mortality of neonates.

Primary ciliary dyskinesia (PCD) is a rare disorder of motile cilia associated with situs abnormalities. At least 12% of patients with PCD have situs ambiguus (SA), including organ laterality defects falling outside normal arrangement (situs solitus [SS]) or mirror image inversion (situs inversus totalis [SIT]). Do patients with PCD and SA achieve worse clinical outcomes compared with those with SS or SIT? This cross-sectional, multicenter study evaluated participants aged 21 years or younger with PCD. Participants were classified as having SA, including heterotaxy, or not having SA (SS or SIT). Markers of disease severity were compared between situs groups, adjusting for age at enrollment and severe CCDC39 or CCDC40 genotype, using generalized linear models and logistic and Poisson regression. In 397 participants with PCD (mean age, 8.4 years; range, 0.1-21), 42 patients were classified as having SA, including 16 patients (38%) with complex cardiovascular malformations or atrial isomerism, 13 patients (31%) with simple CVM, and 13 patients (31%) without cardiovascular malformations. Of these, 15 patients (36%) underwent cardiac surgery, 24 patients (57%) showed an anatomic spleen abnormality, and seven patients (17%) showed both. The remaining 355 participants did not have SA, including 152 with SIT and 203 with SS. Overall, 70 participants (17%) harbored the severe CCDC39 or CCDC40 genotype. Compared with participants without SA, those with SA showed lower median BMI z scores (P =.03), lower FVC z scores (P =.01), and more hospitalizations and IV antibiotic courses for acute respiratory infections during the 5 years before enrollment (P <.01). Participants with cardiovascular malformations requiring surgery or with anatomic spleen abnormalities showed lower median BMI z scores and more hospitalizations and IV therapies for respiratory illnesses compared with participants without SA. Children with PCD and SA achieve worse nutritional and pulmonary outcomes with more hospitalizations for acute respiratory illnesses than those with SS or SIT combined. Poor nutrition and increased hospitalizations for respiratory infections in participants with SA and PCD are associated with cardiovascular malformations requiring cardiac surgery, splenic anomalies, or both. ClinicalTrials.gov; Nos.: NCT02389049 and NCT00323167; URL: www.clinicaltrials.gov. [ABSTRACT FROM AUTHOR]

Respiratory distress in the newborn is associated with numerous etiologies, some common and some rare. When respiratory distress is accompanied by laterality defects, namely, situs inversus (SI), the index of suspicion for comorbid primary ciliary dyskinesia (PCD) should be raised. Primary ciliary dyskinesia is characterized by ciliary dysmotility and the accumulation of thick secretions in the airways that obstruct air and gas exchange. Neonatal clinicians should know that while PCD is definitively diagnosed in infancy or early childhood, findings suspicious for PCD should be communicated to primary care providers at discharge from the hospital to facilitate timely subspecialty involvement, diagnosis, and treatment. This article will present a case report of a term newborn with SI totalis who was later diagnosed with PCD. We will discuss epidemiology, pathophysiology, clinical manifestations, and diagnostics, followed by management strategies. Additionally, we discuss the outpatient needs and lifespan implications. [ABSTRACT FROM AUTHOR]

Background: Kartagener syndrome (KS) is recognized as an inherited, autosomal recessive disorder characterized by a combination of chronic sinusitis, bronchiectasis, and situs inversus. It affects one in 12,500–50,000 live births worldwide. Aim: This paper aims to discuss the dental management of patients diagnosed with KS. Case Report: A 31‐year‐old male with KS manifests by impaired cilia motility which increases the risk of a frequent lung infection. The dental examination revealed that the patient required comprehensive oral hygiene care which included patient education and nonsurgical periodontal therapy under local anesthesia. Conclusions: Dental care providers should ask affected patients with KS about their signs and symptoms of cardiac and pulmonary disease and seek consultation with their attending physician regarding these health concerns before the initiation of general anesthesia and perhaps conscious sedation administration. Patients with KS with emerging cardiac and/or respiratory impairment should be referred promptly for medical assessment. [ABSTRACT FROM AUTHOR]

Background: This report presents a clinical case of syndromic rod-cone dystrophy due to a splice site variant in the ARL2BP gene causing situs inversus, asthenozoospermia, unilateral renal agenesis and microcysts. The presence of renal agenesis and cryptorchidism expands the clinical manifestations due to ARL2BP variants. The detailed, long-term follow-up contributes valuable insights into disease progression, aiding clinical diagnosis and patient management. Case Presentation: The male patient complained of photophobia as the first symptom when he was 20 years old followed by nyctalopia, loss of central visual acuity and peripheral visual field ten years later. Genetic analysis identified a likely pathogenic homozygous variant (c.294-1G > C) involving the splicing acceptor site of intron 4. Reported symptoms together with full-field stimulus threshold testing, electroretinogram and advanced multimodal imaging allowed us to recognize the typical characteristics of a mixed retinal dystrophy. Despite the end-stage retinal disease, this patient still retained a useful residual vision at 63 years and had a slow disease progression during the last 5 years of evaluation. Discussion and conclusions: Our findings underscore the variable clinical presentation of ARL2BP variants, emphasizing the importance of a nuanced approach in diagnosing and managing patients. The presence of renal cysts warrants consideration of a differential diagnosis, particularly with Senior-Loken (SLS), Bardet-Biedl (BBS) and Joubert syndromes (JS) but also with Short Rib Thoracic Dysplasia 9, highlighting the need for careful phenotypic evaluation in these cases. [ABSTRACT FROM AUTHOR]

Situs inversus totalis (SIT) is a rare medical condition characterized by a complete mirror-image reversal of the normal positioning of the internal organs. Aristotle initially described situs inversus in animals, while Fabricius first characterized it in humans. Although the specific cause is uncertain, there is evidence of autosomal recessive and X-linked inheritance. Before seeking treatment for an unrelated ailment, many people with SIT are unaware of their distinct anatomy, as in our case. The presented case is a 30-year-old female patient from Central Ethiopia, presented to Hakim Gizaw Teaching Hospital outpatient department of medicine with the complaint of right-sided anterior chest pain for five days. Clinically, the apical beat was heard in the right 5th intercostal space. After undergoing an electrocardiogram (ECG), echocardiogram, chest X-ray, and abdominal ultrasound, she was diagnosed with situs inversus totalis. The clinical implications of SIT encompass challenges in diagnosis and procedures, potential congenital cardiac abnormalities, considerations for organ transplantation, and clinical decision-making, particularly in emergency scenarios. Key Clinical Messages. This case highlights the clinical implications of dextrocardia with situs inversus totalis, emphasizing the importance of awareness for accurate diagnosis, procedural challenges, and informed clinical decision-making. Understanding this rare condition is crucial for providing appropriate medical care and to navigate potential complications in affected individuals. [ABSTRACT FROM AUTHOR]

Key Clinical Message: A 46‐year‐old woman with congenitally corrected transposition of the great arteries (ccTGA) associated with dextrocardia, situs viscerus inversus, and left superior vena cava persistence presented with an incessant supraventricular tachycardia. Electrophysiological study was not conclusive in differential diagnosis of atrial tachycardia versus atypical atrioventricular (AV) nodal reentrant tachycardia, also due to the unconventional anatomy of the coronary sinus. By a comprehensive mapping of cardiac chambers, a double side slow‐pathway was localized in both atrial chambers and subsequently ablated by radiofrequency delivery without tachycardia changes. Aortic root and cusps were devoid of electrical activity. The muscular part of the sub‐pulmonary ventricle at the level of interatrial septum showed an earliest activation signal of −90 ms and ablation of this site was effective in abolish the tachycardia. This is the first case to report technical concerns of septal atrial tachycardia ablation in ccTGA associated with multiple anatomical malformations. Moreover, some peculiarities have been reported for the first time including the presence of double‐side AV nodal slow‐pathway and atypical localization of the tachycardia origin into the muscular part of the sub‐pulmonary ventricle instead of posterior pulmonary cusp. [ABSTRACT FROM AUTHOR]

Background: Bilious vomiting in a child potentially portends the dire emergency of intestinal malrotation with volvulus, necessitating prompt surgical management, with differentials including small-bowel atresia, duodenal stenosis, annular pancreas, and intussusception. Although the upper-gastrointestinal series (UGI) is the diagnostic investigation of choice, up to 15% of the studies are inconclusive, thereby posing a diagnostic challenge. Case Reports: We report a case series of 3 children referred for bilious vomiting, whose initial UGI was inconclusive and who were eventually confirmed to have intestinal malrotation at surgery. The first child was a female born at 37 weeks with antenatally diagnosed situs inversus and levocardia, who developed bilious vomiting on day 1 of life. The duodenojejunal flexure (DJ) could not be visualized on the UGI because of faint opacification on first pass of the contrast and subsequent overlap with the proximal jejunal loops. The second child was a male born at 36 weeks, presenting at age 4 months with bilious vomiting of 2 days duration. The third child was a female born at 29 weeks, presenting with bilious aspirates on day 3 of life. UGI for all 3 showed persistent hold-up of contrast at the proximal duodenum with no opacification of the distal duodenum or small bowel. Adjunctive techniques during the UGI and ultrasound examination helped achieve a preoperative diagnosis of malrotation in these children. Conclusions: Application of diagnostic adjuncts to an inconclusive initial UGI may help elucidate a preoperative diagnosis of intestinal malrotation in infantile bilious vomiting. [ABSTRACT FROM AUTHOR]

Objective: Congenital defects/diseases Background: Duplication of the gastrointestinal tract is a rare congenital malformation that can develop in any part of the digestive tract. These duplications may be asymptomatic into adult age. Situs inversus totalis is a rare congenital anomaly characterized by a mirror transposition of thoracic and abdominal organs. We present a case of a pancreatic pseudocyst in a patient with a combination of situs inversus totalis and doubling of the esophagus, stomach, and first part of the duodenum. Case Report: A 64-year-old woman presented with epigastric pain. Abdominal computed tomography revealed a pancreatic pseudocyst and a previously identified duplication of the esophagus, stomach, and duodenum with situs inversus totalis. The patient underwent esophagogastroduodenoscopy (EGD) with endoscopic ultrasonography for pseudocyst drainage. During EGD, a bifurcation of the esophagus was found. Duplication of the esophagus, stomach, and first part of the duodenum was evident on further advancement. A week later, there was repeated filling of the pseudocyst with a liquid component, and the patient underwent cystogastrostomy with stenting. Five months after discharge, the stent was removed without complications. Conclusions: Duplication of the gastrointestinal tract and situs inversus totalis are very rare congenital malformations that require early diagnosis. While situs inversus totalis does not represent any medical disadvantage, physicians should be aware of abnormal anatomy before procedures to prepare specialists for this in case of the need for special techniques. Endoscopic treatment of pancreatic pseudocysts is safe and effective even in such rare cases. The use of endoscopic methods also minimizes intervention and decreases the length of the patients' stays in the hospital. [ABSTRACT FROM AUTHOR]

Primary appendicitis presenting in left side is uncommon. Diagnosis is dependent on index of suspicion which is high. We present to you a case of left-sided appendicitis. Appendix was visualized as a long, tubular, edematous, inflamed structure in left lower quadrant with the whole of the colon present in the same region. Commuted tomography is useful in providing accurate diagnosis of acute appendicitis and in detecting rotational abnormalities. [ABSTRACT FROM AUTHOR]