Results 1 to 10 of about 365 (127)

Ivemark syndrome in an adult with complete atrioventricular septal defect and a single ventricle with L-transposition of the great arteries: a case report [PDF]

Journal of Medical Case Reports
Background Ivemark syndrome is a rare heterotaxy disorder characterized by right atrial isomerism, complex congenital heart defects, and thoraco-abdominal anomalies. Because of such defects, survival beyond infancy is rare.
Hind Hibatouallah, Samah El-Mhadi, Selma Siagh, Zakia Touati, Mohamed Cherti   +4 more
doaj   +2 more sources

A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies. [PDF]

Mol Genet Genomic Med, 2021
Abstract Background Introduction of cell‐free fetal DNA (cff‐DNA) testing in maternal blood opened possibilities to improve the performance of combined first‐trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive testing rate.
Ridnõi K, Muru K, Keernik M, Pajusalu S, Ustav EL, Tammur P, Mölter-Väär T, Kahre T, Šamarina U, Asser K, Szirko F, Reimand T, Õunap K.   +12 more
europepmc   +2 more sources

Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes. [PDF]

Am J Med Genet A, 2021
Abstract Oral‐facial‐digital syndromes (OFDS) are a heterogeneous and rare group of Mendelian disorders characterized by developmental abnormalities of the oral cavity, face, and digits caused by dysfunction of the primary cilium, a mechanosensory organelle that exists atop most cell types that facilitates organ patterning and growth. OFDS is inherited
Strong A, Simone L, Krentz A, Vaccaro C, Watson D, Ron H, Kalish JM, Pedro HF, Zackai EH, Hakonarson H.   +9 more
europepmc   +2 more sources

Syndrome of right isomerism: Ivemark syndrome

Journal of Mahatma Gandhi Institute of Medical Sciences, 2018
Heterotaxy Syndrome is a complex syndrome that occurs when the axes of the body fail to rotate correctly when developing in the uterus. This can result in many different organ systems being affected.
Dipti Jain, Bhushan Chavan, Anita Manoj
doaj   +2 more sources

Renal-hepatic-pancreatic dysplasia syndrome (ivemark's syndrome) [PDF]

Diagnostic Pathology, 2007
Background Renal-Hepatic-Pancreatic dysplasia syndrome described by Ivemark in 1959 constitutes a triad pancreatic fibrosis, renal dysplasia and hepatic dysgenesis.
Kakkar Nandita, Gupta Kirti, Vankalakunti Mahesha, Das Ashim   +3 more
doaj   +3 more sources

A breviloquent description about the challenges involved and the management strategies for the complex cardiac abnormality — Ivemark syndrome

Journal of Rare Diseases
Ivemark syndrome, a classification of heterotaxy syndrome, is an extremely uncommon congenital condition. An aberrant configuration of the thoracoabdominal organs across the body’s left–right axis is known as heterotaxy, and it is always linked to either
Pooja C., Sankari A., Sashtipriyaa R., Mariyam Susan Joji, Sarumathy S.   +4 more
doaj   +2 more sources

Impairment of Innate Immunity and Depletion of Vaccine-Induced Memory B and T Cells in the Absence of the Spleen. [PDF]

Am J Hematol
ABSTRACT Splenectomy or congenital asplenia is associated with severe reduction of memory B cells and increased risk of fulminant sepsis by encapsulated bacteria. Current guidelines recommend vaccinations against these pathogens before or after splenectomy, but the longevity of immunity acquired after splenectomy has not been determined.
Bordoni V, Cinicola BL, Piano Mortari E, Castilletti C, Guarracino F, Albano C, Accordini S, Baban A, Di Sabatino A, Rossi CM, Lenti MV, Zicari AM, Cirelli R, Spada M, Forni GL, Quinti I, Algeri M, Casale M, Perrotta S, Locatelli F, Agrati C, Carsetti R.   +21 more
europepmc   +2 more sources

Partial anomalous hepatic venous drainage into left-sided atrium with right isomerism: A case report with review of literature

Indian Journal of Radiology and Imaging, 2017
Right isomerism, also known as Ivemark syndrome, is an unusual degree of symmetry of some of the abdominothoracic viscera reflecting bilateral right-sidedness. We report an exceedingly rare occurrence of anomalous drainage of the left hepatic vein to the
Ishan Kumar, Anmol Bhatia, Kushaljit S Sodhi, Niranjan Khandelwal   +3 more
doaj   +2 more sources

Identifying the optimal blood pressure for cerebral autoregulation in infants after cardiac surgery by monitoring cerebrovascular reactivity—A pilot study

Pediatric Anesthesia, Volume 32, Issue 12, Page 1320-1329, December 2022., 2022
Abstract Background Advances in the treatment of pediatric congenital heart disease have increased survival rates. Despite efforts to prevent neurological injury, many patients suffer from impaired neurodevelopmental outcomes. Compromised cerebral autoregulation can increase the risk of brain injury following pediatric cardiac surgery with ...
Julian Zipfel, Berit Wikidal, Bernadett Schwaneberg, Martin U. Schuhmann, Harry Magunia, Michael Hofbeck, Christian Schlensak, Simon Schmid, Felix Neunhoeffer   +8 more
wiley   +1 more source

Isolated congenital asplenia: An overlooked cause of thrombocytosis

, 2022
American Journal of Hematology, Volume 97, Issue 8, Page 1110-1115, August 2022.
Oscar Borsani, Takaki Asano, Bertrand Boisson, Sara Fraticelli, Marta Braschi‐Amirfarzan, Daniela Pietra, Ilaria Carola Casetti, Daniele Vanni, Chiara Trotti, Alessandro Borghesi, Jean‐Laurent Casanova, Luca Arcaini, Elisa Rumi   +12 more
wiley   +1 more source