Results 91 to 100 of about 5,943 (241)

Primary Ciliary Dyskinesia and Hydrocephalus With Aqueductal Stenosis [PDF]

, 2011
We report 1 female patient with situs inversus, dextrocardia, a complex heart malformation, hydrocephalus due to aqueductal stenosis, and abnormal ultrastructure of the respiratory epithelium cilia.
Lopes, P, Silva, R, Vieira, JP
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Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School [PDF]

, 2018
Primary ciliary dyskinesia (PCD) is a chronic suppurative airways disease that is usually recessively inherited and has marked clinical phenotypic heterogeneity.
A Onoufriadis, AF Ramsdell, Agatha Wisse, AJ Shapiro, AJ Shapiro, Amelia Shoemark, Ana Reula, Bruna Rubbo, C Edelbusch, CE Kuehni, Claire Hogg, Claudia E. Kuehni, CW Wilson, D Hoogewijs, Dominic P. Norris, Hannah Farley, Hannah Wilkins, Jane S. Lucas, JK Marthin, JS Lucas, JS Lucas, June K. Marthin, Katharine Harman, Kim G. Nielsen, L Behan, L Behan, M Fliegauf, M Goutaki, Mahmoud Fassad, Myrofora Goutaki, Nisreen Rumman, P Kouis, SD Dell, Susana Lopes, YI Nozawa, Zuzanna Bukowy-Bieryllo   +35 more
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Diagnosis of Granulomatosis With Polyangiitis in a 39‐Year‐Old Woman With a Recent History of Traveling to Malaria‐Endemic Region: A Case Report

Clinical Case Reports, Volume 13, Issue 3, March 2025.
ABSTRACT Granulomatosis with Polyangiitis (GPA) is a rare vasculitis that can complicate the diagnostic process, especially in patients with complex medical histories. This case report details a 39‐year‐old woman with situs inversus totalis, Kartagener syndrome, and hypothyroidism, who presented to the emergency department with intermittent petechiae ...
Hanie Forouzandeh, Ahmadreza Rajabi, Abbas Ali Torfeh Esfahani, Farzin Khorvash, Mansoor Karimifar   +4 more
wiley   +1 more source

Primary Ciliary Dyskinesia Complicated by Stroke in an Elderly Male: A Case Report

Respirology Case Reports, Volume 13, Issue 3, March 2025.
This report presents a unique case of primary ciliary dyskinesia, complicated by an ischemic cerebrovascular accident (CVA) in a patient with Kartagener syndrome. It underscores the diagnostic complexities and emphasises the need for prompt, multidisciplinary intervention to mitigate the risk of severe neurological outcomes.
Ali Gohar, Bilal Ahmed, Asim Ali, Maryam Ilyas, Momina Masroor, Ayesha Ayman, Masab Ali, Muhammad Husnain Ahmad   +7 more
wiley   +1 more source

Gdf11 regulates left‐right asymmetry development through TGF‐β signal

Cell Proliferation, Volume 58, Issue 3, March 2025.
Gdf11 forms a heterodimer with Spaw, activating the activin receptor and phosphorylating Smad2/3. This process DFC proliferation, subsequently activates the expression of foxj1a and its target genes, promoting cilia formation. Abstract During the embryonic developmental stage in vertebrates, internal organs are arranged along the left–right axis ...
Wantao Yao, Zhaohui Wei, Xinning Tian, Jin Tan, Jingwen Liu   +4 more
wiley   +1 more source

Expanding MNS1 Heterotaxy Phenotype

American Journal of Medical Genetics Part A, Volume 197, Issue 1, January 2025.
ABSTRACT MNS1 (meiosis‐specific nuclear structural protein‐1 gene) encodes a structural protein implicated in motile ciliary function and sperm flagella assembly. To date, two different homozygous MNS1 variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948).
Julien Maraval, Andrée Delahaye‐Duriez, Caroline Racine, Ange‐Line Bruel, Anne‐Sophie Denommé‐Pichon, Léa Gaudillat, Christel Thauvin‐Robinet, Marie Lucain, Véronique Satre, Charles Coutton, AURAGEN Consortium, Jean‐Madelaine de Sainte Agathe, Boris Keren, Laurence Faivre   +13 more
wiley   +1 more source

Colecistite calculosa em situs inversus totalis: abordagem laparoscópica [PDF]

, 2019
Introduction: Situs inversus is a rare congenital anomaly characterized by transposition of the abdominal organs, viscera and vasculature, in relation to the sagittal direction, offering an image called “mirror image”.
Andrade, Mariana Alma Rocha de, Andrade, Renata Lima Batalha de, Araujo, Naiana Mota, Cavalcanti, Marília de Macedo, Ferrari, Yasmim Anayr Costa, Jesus, Adrielle Almeida de, Lima, Sonia Oliveira, Silva, Filipe Miguel Brito Fernandes da, Sousa, Maria Luiza Coelho de   +8 more
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Longest Known Survivor With HeartMate II Continuous‐Flow Left Ventricular Assist System—A Case Report of the 16‐Year Success Story

Clinical Case Reports, Volume 13, Issue 1, January 2025.
ABSTRACT Left ventricular assist devices (LVADs) have been used as a bridge to transplantation in patients with advanced heart failure. In this case, LVAD therapy was used as a destination therapy for 16 years, representing the longest documented and continuously ongoing support with the original implanted device.
Yamane Chawa, Mhd Baraa Habib, Ammar Chapra, Salah Elbdri   +3 more
wiley   +1 more source

Case Reports of Situs Inversus Totalis and Dextrocardia in Sprague Dawley Rats

Veterinary Sciences, 2019
Situs inversus totalis is a condition where there is a transposition of all internal organs from their normal anatomical location. This infrequent and rare congenital condition has been described in several species of mammals. Dextorcardia is a series of
Reynaldo Oliva Hernández, Jordan D. Lewicky, Nya L. Fraleigh, Hoang-Thanh Le   +3 more
doaj   +1 more source

Successful heart transplantation in a patient with Ivemark syndrome combined with situs inversus, single atrium and ventricle after total cavo-pulmonary connection [PDF]

, 2017
Heart transplantation represents a valuable therapeutical option for patients with congenital heart disease and end-stage heart failure. We report the case of a young adult patient with a situs inversus and additional complex congenital malformations of ...
Althaus, Ulrich, Berdat, Pascal A., Carrel, Thierry, Mohacsi, Paul   +3 more
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