keyword
https://read.qxmd.com/read/38432987/primary-ciliary-dyskinesia-caused-by-homozygous-dnaaf1-mutations-resulting-from-a-consanguineous-marriage-a-case-report-from-japan
#21
JOURNAL ARTICLE
Masashi Ito, Kozo Morimoto, Mikio Saotome, Akiko Miyabayashi, Keiko Wakabayashi, Hiroyuki Yamada, Minako Hijikata, Naoto Keicho, Ken Ohta
We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene...
March 4, 2024: Internal Medicine
https://read.qxmd.com/read/38410807/first-case-of-a-reversed-parabothus-taiwanensis-amaoka-shen-1993-from-taiwan-pleuronectiformes-bothidae-with-first-evidence-of-situs-inversus-viscerum-in-bothid
#22
JOURNAL ARTICLE
Yo Su, Hsuan-Ching Ho, Tah-Wei Chu
BACKGROUND: Reversed condition is rarely found in most flatfishes in natural environment, except for some certain species. The mechanism controlling the reversals in flatfishes has been studied in some cultivated species, whereas some have only few cases for the entire family and remain unclear. Here, we report the first record of a dextral (reversed) specimen of Parabothus taiwanensis Amaoka & Shen, 1993 collected off southwestern Taiwan recently. It represents the second reversed case ever recorded in Bothidae...
2024: PeerJ
https://read.qxmd.com/read/38409778/a-case-of-left-sided-acute-appendicitis-in-a-45-year-old-man-with-situs-inversus-totalis-managed-by-emergent-laparoscopic-appendectomy
#23
JOURNAL ARTICLE
Lord Mvoula, Tarek Khrisat, Meno Lueders
BACKGROUND Situs inversus totalis (SIT) is a rare congenital abnormality that includes mirror-image transposition of both the abdominal and the thoracic organs. It may remain undetected into adulthood until an acute medical emergency results in diagnostic imaging. This report presents a challenging case of left-sided acute appendicitis in a 45-year-old man with SIT. CASE REPORT A 45-year-old man with a medical history of gastroesophageal reflux disease, class 2 obesity, prediabetes, and elevated low-density lipoprotein cholesterol presented with severe acute abdominal pain localized in the left lower quadrant with localized tenderness, nausea, and 2 episodes of non-bloody and non-bilious emesis that started a day before the clinical encounter...
February 27, 2024: American Journal of Case Reports
https://read.qxmd.com/read/38404738/situs-viscerum-inversus-and-abdominal-aortic-aneurysm-a-systematic-review-of-a-rare-association
#24
REVIEW
Paolo Ossola, Federico Mascioli, Andrea Pierre Luzzi, Lorenzo Epis, Diego Coletta
Situs viscerum inversus (SVI) is a very rare condition in that abdominal and thoracic organs are located reversed. Abdominal aortic aneurysm (AAA) is a life-threatening pathology due to progressive aortic enlargement until the rupture. The association between SVI and AAA is very infrequent. The aim of this study is to identify the surgical procedures available to treat AAA in SVI. We performed a literature review of all studies about AAA in SVI patients, analyzing PubMed/MEDLINE, EMBASE, Web of Science (WOS), Google Scholar databases...
February 2024: Intractable & Rare Diseases Research
https://read.qxmd.com/read/38397788/redox-imbalance-in-nasal-epithelial-cells-of-primary-ciliary-dyskinesia-patients
#25
JOURNAL ARTICLE
Ana Reula, Silvia Castillo-Corullón, Miguel Armengot, Guadalupe Herrera, Amparo Escribano, Francisco Dasí
Background: Primary Ciliary Dyskinesia (PCD) represents a rare condition marked by an abnormal mobility pattern of cilia and flagella, resulting in impaired mucociliary clearance. This deficiency leads to recurrent infections and persistent inflammation of the airways. While previous studies have indicated heightened oxidative stress levels in the exhaled breath condensate of pediatric PCD patients, the assessment of oxidative stress within the affected respiratory tissue remains unexplored. Aims: To assess the oxidative status of human nasal epithelial cells (NECs) in PCD patients...
February 2, 2024: Antioxidants (Basel, Switzerland)
https://read.qxmd.com/read/38396316/metastatic-upper-tract-urothelial-carcinoma-with-nest-like-features-presenting-as-malignant-pleural-effusion
#26
JOURNAL ARTICLE
Francesca Arienzo, Alessandra Valenti, Paolo Ricci, Valeria Ascoli
Metastatic urothelial carcinoma is a rare cause of pleural effusions. We report a case of urothelial carcinoma of the upper urinary tract in an oldest-old male patient, a smoker, with situs inversus totalis, that presented uniquely with malignant pleural effusion at presentation without evidence of a primary tumor on imaging. Cytological smears of the massive left pleural effusion revealed epithelioid neoplastic cells arranged in short cords, small-to-large clusters, and raspberry-like morules, mimicking mesothelioma; cell block preparations highlighted the presence of tubules and nest-like structures...
February 23, 2024: Diagnostic Cytopathology
https://read.qxmd.com/read/38394506/association-between-types-of-abdominopelvic-cancer-in-patients-with-situs-inversus-total-systematic-review
#27
JOURNAL ARTICLE
Juan José Valenzuela-Fuenzalida, Daniela Martínez Hernández, Daniel Milos-Brandenberg, Zmilovan Koscina, Roberto Avila-Sepulveda, Belen Baez, Daniela Perez-Jimenez, Pablo Nova Baeza, Mathias Orellana Donoso, Alejandro Bruna-Mejias
BACKGROUND: Situs inversus is a rare congenital anatomical variant that involves a group of anomalies regarding the arrangement of intrathoracic and intraabdominal organs. Being able to find in the abdominal region the liver, gallbladder, inferior vena cava, and head of the pancreas and ascending colon on the left side of the abdomen, while on the right side there is the spleen, the stomach, the body of the pancreas, the ligament of Treitz, descending colon among others. In this same way, the thoracic organs, lungs and heart, are changed in their position in a mirror translocation...
February 23, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38384744/persistent-cough-and-situs-inversus-in-a-middle-aged-female
#28
Besharat Rahimi, Ghazal Roostaei, Hossein Kazemizadeh, Maryam Edalatifard, Niloofar Khoshnam-Rad
Kartagener syndrome, a rare genetic disorder, can present in adults with persistent respiratory symptoms and radiological changes, such as bronchiectasis and situs inversus. Clinicians should maintain a high clinical suspicion, as early recognition and appropriate management are crucial for preserving pulmonary function.
February 2024: Respirology Case Reports
https://read.qxmd.com/read/38347982/dextrocardia-with-situs-inversus-in-a-covid-19-patient
#29
Anastasia Rigatou, Konstantinos C Christodoulou, Xafnoula Zlatidou, Ioannis Nikolakakis
With an estimated incidence of one in 10,000 to one in 50,000 patients, Situs inversus totalis (SIT) is a rare innate anomaly, portraying a mirror image of the normal anatomy, as the cardiac position and abdominal viscera are completely inverted. Despite the fact that physicians and researchers have been dealing with the SARS-CoV-2 pandemic for three years, there is a lack of published data examining the potential effects of anatomic variations on coronavirus disease 2019 (COVID-19) infection. This study aimed to contribute to this domain by presenting a rare case of a COVID-19 infection coexisting with SIT as one of the very few cases reporting the simultaneous presence of the two pathologies...
January 2024: Curēus
https://read.qxmd.com/read/38346735/how-to-treat-atrial-fibrillation-and-concomitant-sick-sinus-syndrome-in-patients-with-situs-inversus-accompanied-by-dextrocardia
#30
JOURNAL ARTICLE
Naoya Kataoka, Teruhiko Imamura
No abstract text is available yet for this article.
February 12, 2024: Internal Medicine
https://read.qxmd.com/read/38344889/to-flip-or-not-case-series-of-coronary-angioplasty-in-patients-with-right-sided-heart
#31
Brian P Kelley, Shanice Glasco, Charlie J Sang, Bianca Yoo, Michael Yeung, Jiandong Zhang
Coronary angioplasty in patients with a right-sided heart may be difficult due to challenges in engaging the coronary arteries, interpreting angiogram, and further delivering intracoronary therapies. We present our experience of percutaneous coronary intervention in two cases and propose a practical algorithm to approach cardiac catheterization in these patients.
February 12, 2024: Catheterization and Cardiovascular Interventions
https://read.qxmd.com/read/38344417/case-report-of-pulmonary-vein-isolation-in-situs-inversus-totalis
#32
Annina Stauber, Raban Jeger, Omer Dzemali, Andreas Stephan Müller
BACKGROUND: Situs inversus totalis (SIT) is a rare condition, where all the organs in the body are mirrored. Atrial fibrillation occurs in patients with SIT. We describe the case of pulmonary vein isolation (PVI) in SIT. CASE SUMMARY: A patient with atrial fibrillation was referred to our hospital due to palpitations. Diagnosis of atrial fibrillation was made by electrocardiogram. The patient reported to have a SIT that was confirmed. Meticulous preparation was done including a three-dimensional model and radiofrequency PVI was performed successfully...
February 2024: European Heart Journal. Case Reports
https://read.qxmd.com/read/38308485/three-scandinavian-countries-did-not-see-the-same-increase-in-foetal-situs-inversus-observed-in-china-during-the-covid-19-pandemic
#33
JOURNAL ARTICLE
Jonas F Ludvigsson, Siri Eldevik Håberg, Petur B Juliusson, Anne-Marie Nybo Andersen, Stine Kjaer Urhoj, Olof Stephansson
No abstract text is available yet for this article.
February 3, 2024: Acta Paediatrica
https://read.qxmd.com/read/38303356/-laparoscopic-colectomy-for-a-patient-with-transverse-colon-cancer-in-situs-inversus-totalis
#34
JOURNAL ARTICLE
Yutaro Naka, Junichiro Kamiya, Dan Takeuchi, Takaaki Kaneko, Seiki Miura, Chizu Yamada, Takayuki Suzuki, Akira Ogata
A 74-year-old man with situs inversus totalis visited our hospital for a positive fecal occult blood. He was diagnosed with transverse colon cancer by total colonoscopy. We performed laparoscopic partial colectomy. He was discharged on the 8th postoperative day, without postoperative complications. Histopathological examination revealed well differentiated adenocarcinoma, pT1aN0M0, pStage Ⅰ. Preoperative assessment of the anatomical position and vascular malformations, using 3- dimensional computed tomography, was essential for our safe surgical conduct...
December 2023: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://read.qxmd.com/read/38289743/laparoscopic-cholecystectomy-in-situs-inversus-totalis-with-stage-5-chronic-kidney-disease-a-case-report
#35
JOURNAL ARTICLE
Sneha Raut, Yugal Limbu, Prashanta Pudasaini, Swagat Gongal, Dhiresh Kumar Maharjan
UNLABELLED: Situs inversus totalis is a rare congenital anomaly in which the abdominal and thoracic organs are transposed in a mirror image. Diagnosis and management of cholelithiasis in patients with situs inversus totalis pose a challenge due to the anatomical variation. A laparoscopic cholecystectomy in such a case can be technically challenging, especially for a right-handed surgeon. In this case report, we present a case of a 38-year-old male with symptomatic cholelithiasis in a chronic kidney disease stage five patient under maintenance hemodialysis planned for recipient renal transplant...
November 1, 2023: JNMA; Journal of the Nepal Medical Association
https://read.qxmd.com/read/38282372/-don-t-let-it-hold-you-back-the-experience-of-transition-to-adulthood-in-young-people-with-primary-ciliary-dyskinesia-an-interpretative-phenomenological-analysis
#36
JOURNAL ARTICLE
Rhys Dore, Isabella E Nizza, Hannah M Mitchison, Celine Lewis
Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied. Semi-structured interviews were conducted with three participants aged 18-24 years...
January 28, 2024: Journal of Health Psychology
https://read.qxmd.com/read/38276893/a-successful-cardiac-transplant-in-a-patient-with-situs-inversus-totalis-and-congenitally-corrected-transposition-of-the-great-arteries
#37
Sebastian Johannes Bauer, Hug Aubin, Raphael Bruno, Moritz Benjamin Immohr, Yukiharu Sugimura, Arash Mehdiani, Payam Akhyari, Udo Boeken, Artur Lichtenberg
A heart transplant is the gold standard therapy for patients with end-stage heart failure. In this case report, situs inversus totalis and congenitally corrected transposition of the great arteries led to a unique and complex preoperative setting. Extended donor organ harvesting, donor graft rotation of 45° to the right and post-operative stenting of the superior vena cava were essential steps in the interdisciplinary management of this case. The patient was transferred to the intensive care unit with moderate inotropic support...
January 26, 2024: Multimedia Manual of Cardiothoracic Surgery: MMCTS
https://read.qxmd.com/read/38261620/methylation-of-ciliary-dynein-motors-involves-the-essential-cytosolic-assembly-factor-dnaaf3-pf22
#38
JOURNAL ARTICLE
Miho Sakato-Antoku, Ramila S Patel-King, Jeremy L Balsbaugh, Stephen M King
Axonemal dynein motors drive ciliary motility and can consist of up to twenty distinct components with a combined mass of ~2 MDa. In mammals, failure of dyneins to assemble within the axonemal superstructure leads to primary ciliary dyskinesia. Syndromic phenotypes include infertility, rhinitis, severe bronchial conditions, and situs inversus. Nineteen specific cytosolic factors (Dynein Axonemal Assembly Factors; DNAAFs) are necessary for axonemal dynein assembly, although the detailed mechanisms involved remain very unclear...
January 30, 2024: Proceedings of the National Academy of Sciences of the United States of America
https://read.qxmd.com/read/38244377/complete-common-bile-duct-injury-after-laparoscopic-cholecystectomy-in-situs-inversus-totalis-a-case-report-review-of-the-literature-and-illustrative-case-video
#39
Bahaa I Aburayya, Layan R Obeidat, Farah I Kitana, Omar Al Khatib, Saleh Romman, Osama H Hamed
INTRODUCTION AND IMPORTANCE: Situs Inversus Totalis (SIT) is a rare condition characterized by the transposition of internal organs. Given the anatomical variations in SIT, surgeons must exercise extreme caution when performing laparoscopic cholecystectomy to avoid iatrogenic bile duct injury. Despite the high difficulty index associated with laparoscopic cholecystectomy in SIT, there is only one case report of common bile duct (CBD) injury in the English-language literature. CASE PRESENTATION: A 41-year-old female patient, known to have Kartagener syndrome, underwent laparoscopic cholecystectomy for acute cholecystitis and was discharged home on post-operative day one...
February 2024: International Journal of Surgery Case Reports
https://read.qxmd.com/read/38240878/unveiling-the-complexities-of-lung-transplantation-in-situs-inversus
#40
JOURNAL ARTICLE
Chitaru Kurihara, Taisuke Kaiho, Ankit Bharat
BACKGROUND: Lung transplantation for situs inverse is considered technically challenging because of the reverse positioning of the organs. By providing a detailed description of the surgical procedure, perioperative care, and post-transplant follow-up, we aim to contribute valuable information to the existing knowledge base. We presented two cases of successful bilateral sequential lung transplantation in situs inverse patients. CASE PRESENTATION: Our first patient was a 28-year-old, non-smoking woman with Kartagener syndrome and advanced bronchiectasis that developed into pneumonia and required repeated hospital admissions...
January 19, 2024: Surgical Case Reports
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