Situs inversus totalis is a rare recessive autosomal congenital abnormality in which the mediastinal and abdominal organs are in a mirrored position when compared to the usual topography. The literature reports some cases of situs inversus totalis and concomitant conditions: spinal abnormalities, cardiac malformations and hematological diseases, such as idiopathic thrombocytopenic purpura, which is an autoimmune disease that causes thrombocytopenia due to platelet destruction or suppression of its production. This article aimed to report the coexistence of situs inversus totalis and idiopathic thrombocytopenic purpura.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6924875 | PMC |
| http://dx.doi.org/10.31744/einstein_journal/2020RC5111 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Undocking of an extensive ciliary network induces proteostasis and cell fate switching resulting in severe primary ciliary dyskinesia.
Sci Transl Med
January 2025
Department of Cell Biology and Physiology, Washington University School of Medicine, Saint Louis, MO 63110, USA.
Article Synopsis
- Primary ciliary dyskinesia (PCD) is a rare genetic disorder linked to chronic respiratory issues, infertility, and problems with body asymmetry, primarily caused by mutations in the CCDC39 and CCDC40 genes.
- Researchers used advanced techniques to investigate how these genetic variants impact cellular functions beyond just causing cilia to stop moving.
- They discovered that the absence of CCDC39/CCDC40 creates a significant loss of over 90 ciliary structural proteins, leading to cilia dysfunction and other cellular issues, suggesting that gene therapy could potentially offer a new treatment strategy for PCD.
Application of copy number variation sequencing combined with whole exome sequencing in prenatal left-right asymmetry disorders.
BMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Successful Endoscopic Retrograde Cholangiopancreatography for Management of Choledocholithiasis in a Patient With Situs Inversus Totalis: A Case Report and Literature Review.
Gastro Hep Adv
September 2024
Gastroenterology Division, Medicine Department, Prince Mohammed Bin Abdulaziz Hospital, Ministry National Guard - Health Affairs, Almadinah, Almunawwarah, KSA.
Situs inversus totalis is a rare congenital disorder defined by the transposition of all viscera to the opposite side of the body. Because of this anatomical alteration, endoscopic retrograde cholangiopancreatography (ERCP) in such a population is significantly challenging. Herein we report a case of a 50-year-old woman presented with epigastric and left upper quadrant pain.
View Article and Find Full Text PDFMini Atrial Septal Defect Closure In Dextrocardia With Situs Inversus By Left Anterolateral Thoracotomy(Lalt) Approach - A Surgical Challenge.
Port J Card Thorac Vasc Surg
January 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.
Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.
Mixed reality for preoperative planning and intraoperative assistance of surgical correction of complex congenital heart defects.
J Thorac Cardiovasc Surg
January 2025
Division of Cardiology, The Hospital for Sick Children, Toronto, ON, Canada; Center for Image Guided Innovation and Therapeutic Intervention, The Hospital for Sick Children, Toronto, ON, Canada.
Objectives: Mixed reality (MixR) is an innovative visualization tool that presents virtual elements in a real-world environment, enabling real-time interaction between the user and the combined digital/physical reality. We aimed to explore the feasibility of MixR in enhancing preoperative planning and intraoperative guidance for the correction of various complex congenital heart defects (CHDs).
Methods: Patients underwent cardiac computed tomography or cardiac magnetic resonance and segmentation of digital imaging and communications in medicine (DICOM) images was performed.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!