Results 41 to 50 of about 4,220 (207)

Ccdc11 is a novel centriolar satellite protein essential for ciliogenesis and establishment of left-right asymmetry [PDF]

, 2016
The establishment of left–right (L-R) asymmetry in vertebrates is dependent on the sensory and motile functions of cilia during embryogenesis. Mutations in CCDC11 disrupt L-R asymmetry and cause congenital heart disease in humans, yet the molecular and ...
Betleja, Ewelina, John, Emily, Mahjoub, Moe R, Mitchell, Brian J, Moresco, James J, Silva, Erica, Spear, Philip, Yates, John R, III, Zhang, Siwei   +8 more
core   +2 more sources

Liver and pancreas transplantation in adult donor and recipients with situs inversus totalis: a case series and review of the literature

Journal of Medical Case Reports
Background Situs inversus totalis is a rare congenital anomaly characterized by a mirror-image orientation of abdominal, and in some cases, thoracic organs.
Alireza Shamsaeefar, Fatemeh Masjedi, Jamshid Roozbeh, Sahar Sohrabi Nazari, Edalat Zarei, Mehran Jafari, Sara Farifteh, Mohammad Alikhani, Mohammad Eslamian, Maryam Mardani, Reyhaneh Naseri, Hamed Nikoupour   +11 more
doaj   +1 more source

Cor triatriatum sinister with situs inversus totalis in an infant. [PDF]

, 2012
Cor triatriatum sinister is a rare congenital cardiac malformation characterized by a membrane in the left atrium which separates the left atrium into the proximal and distal chambers.Association of cor triatriatum is extremely rare with situs inversus
Gadekar, A., Meshram, Sushant, Pathak, Swanand, Taksande, Amar M.   +3 more
core   +1 more source

Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary Findings

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
The aim of this study is to provide meaningful data surrounding prenatal diagnostic and secondary finding results that can aid in the exome consenting process. As an emerging area of genomic medicine, these results provide holistic incidence rates for rare genetic conditions, presently understudied in the prenatal realm.
Kayleigh Avello, Shawn Gessay, Megan Nelson, Connie Schultz, Natalie Jacob   +4 more
wiley   +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   +6 more sources

Common bile duct adenocarcinoma in a patient with situs inversus totalis: report of a rare case

BMC Research Notes, 2012
Background Situs inversus totalis represents an unusual anomaly characterized by a mirror-image transposition of the abdominal and thoracic viscera.
Benhammane Hafida, Kharmoum Saoussane, Terraz Sylvain, Berney Thierry, Nguyen-Tang Thai, Genevay Muriel, El Mesbahi Omar, Roth Arnaud   +7 more
doaj   +1 more source

Laparoscopic Gallbladder Surgery in A Patient with Situs Inversus Totalis and Cholecystitis without Stones [PDF]

, 2023
This article presents a relevant clinical case of a 72-year-old female patient with recurrent episodes of acute abdomen. Two rare conditions were confirmed: Situs Inversus Totalis (SIT) and Cholelithiasis, leading to the scheduling of elective surgery ...
Chano, Christian Vicente Sogso, Elizabeth, Jami Carrera Jeanneth, Portero, María José Villacreses, Villa, Carlos Omar Blacio   +3 more
core   +2 more sources

The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice

Pediatric Pulmonology, Volume 61, Issue 4, April 2026.
ABSTRACT Primary ciliary dyskinesia (PCD) is a rare inherited disease which is characterised by progressive lung disease, chronic rhinosinusitis, repeated middle ear infections, laterality defects, and reduced fertility. An early diagnosis is critical to reduce morbidity, however diagnosis is often delayed due to the heterogeneity in clinical ...
Katharine Harman, Amjad Horani, Amelia Shoemark   +2 more
wiley   +1 more source

Laparoscopic Cholecystectomy in Situs Inversus Totalis with Stage 5 Chronic Kidney Disease: A Case Report

Journal of Nepal Medical Association, 2023
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 ...
Sneha Raut, Yugal Limbu, Prashanta Pudasaini, Swagat Gongal, Dhiresh Kumar Maharjan   +4 more
doaj   +1 more source

Balance Impairment, Muscle Oxygenation, and Functional Exercise Capacity in Patients With Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 4, April 2026.
ABSTRACT Background and Objectives Extrapulmonary effects are observed in patients with primary ciliary dyskinesia (PCD), however, few studies have examined these manifestations, particularly regarding balance and muscle oxygenation during exercise. This study aimed to compare balance, functional exercise capacity, muscle oxygenation, respiratory and ...
Şeyma Mutlu Kayaarslan, Meral Boşnak Güçlü, Tuğba Şişmanlar Eyüboğlu, Ayşe Tana Aslan   +3 more
wiley   +1 more source