Results 81 to 90 of about 17,146 (248)

Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]

, 2018
We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.
Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara   +10 more
core  

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]

, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete, Afzelius, Afzelius, Afzelius, Alanin, Altenburg, Bartoloni, Behan, Bhatt, Bilton, Boaretto, Boe, Boon, Boon, Boon, Bradley, Brenner, Brown, Bush, Bush, Campbell, Carotenuto, Chang, Chang, Chernick, Cohen-Cymberknoh, Cole, Coren, Davis, Daviskas, De Benedetti, Desai, Deuse, Eastham, El-Abiad, Eliasson, Elkins, Ellerman, Fedakar, Ferkol, Ferkol, Fliegauf, Fliegauf, Flume, Fokkens, Fretzayas, Frommer, Fuchs, Gokdemir, Goutaki, Halbert, Hart, Hellinckx, Hill, Horani, Horani, Irving, Jeanson, Kartagener, Kellett, Kennedy, Kennedy, Kennedy, Kim, King, Knowles, Knowles, Knowles, Kobbernagel, Konstan, Kott, Kuehni, Kumar, Lai, Lebl, Leigh, Lucas, Lucas, Lucas, Lucas, Macchiarini, Mackerness, Madsen, Maglione, Maglione, Manna, Marks, Marthin, Marthin, Marthin, Mateos-Corral, McManus, Merveille, Mirra, Mitchison, Montella, Montella, Montella, Montella, Moore, Mossberg, Mullowney, Munro, Nakhleh, Nicolson, Noone, Noone, Oktem, Olbrich, Omran, Onoufriadis, Onoufriadis, O’Callaghan, O’Callaghan, Paff, Paff, Papon, Pasteur, Patella, Phillips, Picot, Pifferi, Potter, Prulière-Escabasse, Raidt, Rogers, Rutland, Sagel, Santamaria, Santamaria, Schwabe, Serisier, Shah, Shapiro, Shoemark, Sommer, Spagnolo, Stenbit, Stillwell, Sturgess, Svobodova, ten Berge, Valerio, Walker, Wallmeier, Werner, Werner, Wirschell, Wong, Yan-Wei, Zimmerman   +150 more
core   +1 more source

[Situs inversus totalis].

Revista de gastroenterologia del Peru : organo oficial de la Sociedad de Gastroenterologia del Peru, 2013
Situs inversus totalis (SIT) is a rare disease in which there is transposition of thoracic and abdominal organs. The symptoms of appendicitis in SIT are often confused with other intraperitoneal processes such as diverticulitis. We report the case of a 65-year-old, attended by emergency epigastric pain of 20 hours of the onset after a few hours left ...
Navarro, Veronica, Oshiro, Harumi, Peña, Bruce, Moquillaza Pineda, Fernando   +3 more
openaire   +4 more sources

Assessment of Double Outlet Left Ventricle in Pediatrics Using Transthoracic Echocardiography and Computed Tomographic Angiography

Pediatric Discovery, Volume 3, Issue 4, December 2025.
The clinical manifestation of DOLV was atypical. TTE has a relatively high diagnostic accuracy for DOLV in pediatric, which is very valuable for its early detection. ABSTRACT Double outlet left ventricle (DOLV) is a rare congenital cardiac anomaly in which both great arteries originate entirely or predominantly from the morphologic left ventricle.
Xu Zhu, Guangyi Zhong, Xiaojuan Ji, Xue Xiang, Min Zheng, Huina Yan, Rui Li   +6 more
wiley   +1 more source

Peritonitis generalizada de origen apendicular con hallazgo intraoperatorio de situs inversus abdominalis

Cirugía Paraguaya
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.
Daisy Analía González Ayala
doaj   +1 more source

Noncompaction cardiomyopathy and heterotaxy syndrome [PDF]

, 2017
Left ventricular noncompaction cardiomyopathy (LVNC) is characterized by compact and trabecular layers of the left ventricular myocardium. This cardiomyopathy may occur with congenital heart disease (CHD).
Martinez, Hugo R., Parent, John J., Schamberger, Marcus S., Ware, Stephanie M.   +3 more
core   +1 more source

Immunostaining and Ciliary Movement Analysis in Primary Ciliary Dyskinesia With a Homozygous Deletion Involving Exons 1–4 of DRC1: A Case Report

Respirology Case Reports, Volume 13, Issue 12, December 2025.
We report the case of a 29‐year‐old male diagnosed with primary ciliary dyskinesia (PCD) with a homozygous loss‐of‐function deletion involving exons 1–4 of DRC1. A high‐speed video microscopy analysis showed motile cilia with reduced amplitude, and immunofluorescence (IF) showed the absence of DRC3 in the cilia, suggesting a DRC1 deletion affects DRC3 ...
Atsushi Kurokawa, Mitsuko Kondo, Mayoko Tsuji, Yuno Shiota, Azusa Miyoshi, Fumi Miyata, Keiko Kan‐o, Tomohiro Akaba, Ken Arimura, Osamitsu Yagi, Kaname Nakatani, Makoto Ikejiri, Kazuhiko Takeuchi, Etsuko Tagaya   +13 more
wiley   +1 more source

An Opto‐Bio‐Hydrodynamic Platform for Instructing Cardiac Left‐Right Asymmetry Development

Advanced Science, Volume 12, Issue 42, November 13, 2025.
By establishing mechanistic links among optically tuned ciliary dynamics, flow‐mediated signaling, and organ asymmetry, a multifunctional Opto‐Bio‐Hydrodynamic platform is developed to modulate ciliary motion with the programmable near infrared light for instructing cardiac left‐right asymmetry development in a spatiotemporally controlled manner, which
Haifeng Qin, Xiaoshuai Liu, Yufeng Lin, Guangyi Yang, Haojiang Ren, Mingyuan Cao, Zhenheng Jiao, Baojun Li, Xianchuang Zheng   +8 more
wiley   +1 more source

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
core  

Diagnosis of atrial situs by transesophageal echocardiography [PDF]

, 1963
In a prospective investigation, direct visualization of both atrial appendages was attempted during transesophageal echocardiographic studies in 132 patients with congenital heart disease.
Oliver F.W. Stümper, Narayanswami Sreeram, Nynke J. Elzenga, George R. Sutherland, Lev, Van Praagh, Tynan, Van Mierop, Partridge, Deanfield, Huhta, Macartney, Sapire, Peoples, Stanger, Caruso, Sharma, Gussenhoven, Aschenberg, Gussenhoven, Hanrath, Schülter, Tynan, Chiu   +23 more
core   +1 more source