Results 61 to 70 of about 17,146 (248)

Successful management of ectopic kidney stones in a patient with situs inversus totalis: a rare case report

BMC Urology, 2022
Background Situs inversus totalis is a very rare congenital anatomical variation, in which all thoracic and abdominal organs are right-left inverted.
Marah Mansour, Abdulmonem Naksho, Yassamine Ouerdane, Tamim Alsuliman, Hani Almozawer, Khaled Alrebdawi   +5 more
doaj   +1 more source

Surgical Management of Kartagener's Syndrome With Bronchiectasis in a Pediatric Patient: A Case Report on Right Lower Lung Lobectomy in a 9‐Year‐Old Female

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Kartagner syndrome is a rare congenital autosomal recessive disorder of ciliary movement, characterized by triad of chronic sinusitis, situs inversus and bronchiectasis leading to recurrent chest and sinuses infections. The primary objectives of this case report is to highlight the presentation of this rare disorder, its surgical challenge ...
Pakeezah Tabasum, Makhdooom Bilawal, Priya Devi, Waseem Sajjad, Ali Raza Brohi, Mohammed Hammad Jaber Amin   +5 more
wiley   +1 more source

Video Documentary of Situs Inversus Totalis in a Male Cadaver Module 5: Lungs and Heart

MedEdPORTAL, 2014
Situs inversus totalis is a condition in which the internal organs of the human body are transposed to opposite sides. On average, 1 in 20,000 individuals has situs inversus totalis.
Gregory Casey, Lisa Campeau
doaj   +1 more source

Dextrocardia with situs inversus totalis: coronary artery bypass grafting [PDF]

, 2012
Dextrocardia with situs inversus is a rare congenital abnormality involving a left-handed mal rotation of the visceral organs. The incidence of coronary artery disease is the same as that in the general population.
Anis, Mariam, Darr, Umer, Hashmi, Salila
core   +1 more source

A systems-biology approach to understanding the ciliopathy disorders. [PDF]

, 2011
'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core   +1 more source

Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this article, we investigate the pathogenesis of three unrelated Chinese children who exhibited mild to moderate developmental delay, mild intellectual disability, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the
Shan Ou, Shujie Zhang, Qi Yang, Qiang Zhang, Xunzhao Zhou, Qinle Zhang, Xiuliang Rong, Nana Qi, Jiale Qian, Bibing Xi, Ranran Lin, Shengkai Wei, Jingyu Su, Zailong Qin, Jingsi Luo   +14 more
wiley   +1 more source

Colecistectomia laparoscopica in situs viscerum inversus totalis: nota di tecnica [PDF]

, 2009
The Authors report the case of a patient admitted in Emergency Room for biliary colic. She knew her dextrocardia. ECG and chest X-ray confirmed the dextrocardia.
Di Luna, G., Grande, G., Musto, L.A., Romano, Fabio, Romano, Giovanni Gerardo Aniello, Saldutti, Luigi   +5 more
core  

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations [PDF]

, 2012
Rationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of ...
Amack, J.D., Belmont, J.W., Bertoli-Avella, A.M., Breedveld, G., Devriendt, K., French, V.M., Frohn-Mulder, I.M.E., Graaf, B.M. de, Graaff, E. de, Helbing, W.A., Jadot, E., Jiang, Z.X., Laar, I.M.B.H. van de, Meijers-Heijboer, E.J., Mientjes, E., Najmabadi, H., Oostra, B.A., Rahimi, Z., Rohe, C., Roos-Hesselink, J.W., Schot, R., Severijnen, L.A., Swagemakers, S., Tienhoven, M. van, Venselaar, H., Verkerk, A., Wang, G.L., Wessels, M.W., Willemsen, R.   +28 more
core   +2 more sources

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Primary ciliary dyskinesia (PCD) is a rare and heterogeneous inherited disease characterized by impaired mucociliary clearance. Patients with PCD typically present with recurrent respiratory infections resulting in the development of bronchiectasis. Even though awareness of the disease has increased over the years, PCD remains underdiagnosed.
Mirja M. Wirtz, Sabine Ebner, Anna Pleyers, Natalie Firlei-Fleischmann, Richard Untersteiner, Michael Studnicka, Irfan Ahmad   +6 more
wiley   +1 more source

Motile cilia defects in diseases other than primary ciliary dyskinesia:The contemporary diagnostic and research role for transmission electron microscopy [PDF]

, 2017
Ultrastructural studies have underpinned the cell biological and clinical investigations of the varied roles of motile cilia in health and disease, with a long history since the 1950s.
Afzelius BA, Amelia Shoemark, Hannah M Mitchison, Harrison MJ, Hirst R, Murcia NS, Piorunek T   +6 more
core   +3 more sources