Results 11 to 20 of about 341 (88)

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

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

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

Anatomical Asplenia in Cat Eye Syndrome: An Expansion of the Disease Spectrum

Case Reports in Pediatrics, Volume 2013, Issue 1, 2013., 2013
We report a patient with Cat eye syndrome (CES) associated with anatomical asplenia. To the best of our knowledge, there have been no prior reports of this association. Screening for asplenia in CES is potentially important, as asplenia places patients at increased risk for life‐threatening bacterial infections. Hence patients with CES without a spleen
DeepakBabu Chellapandian, Adele Schneider, P. Pavone, M. Raes   +3 more
wiley   +1 more source

Splenic Anomalies of Shape, Size, and Location: Pictorial Essay

The Scientific World Journal, Volume 2013, Issue 1, 2013., 2013
Spleen can have a wide range of anomalies including its shape, location, number, and size. Although most of these anomalies are congenital, there are also acquired types. Congenital anomalies affecting the shape of spleen are lobulations, notches, and clefts; the fusion and location anomalies of spleen are accessory spleen, splenopancreatic fusion, and
Adalet Elcin Yildiz, Macit Orhan Ariyurek, Musturay Karcaaltincaba, Ferdinand Frauscher, Takeshi Fujita, Hiromu Mori, Mariano Scaglione   +6 more
wiley   +1 more source

Etiology and Management of Hemorrhagic Complications of Portal Hypertension in Children

International Journal of Hepatology, Volume 2012, Issue 1, 2012., 2012
Portal hypertension in children represents a particular diagnostic and management challenge for several reasons: (1) treatment outcomes should be evaluated in relationship with a long‐life expectancy, (2) pediatric patients with portal hypertension constitute an heterogeneous population, both in terms of individual characteristics and diversity of ...
Alejandro Costaguta, Fernando Alvarez, Nir Hilzenrat   +2 more
wiley   +1 more source

Accuracy of Prenatal Diagnosis in Elective Termination of Pregnancy: 385 Cases from 2000 to 2007

International Scholarly Research Notices, Volume 2011, Issue 1, 2011., 2011
Objective. To evaluate the quality of prenatal results in all cases of termination of pregnancy (TOP) due to fetal abnormalities in a tertiary prenatal diagnosis center. Material and Methods. Retrospective analysis of the 385 TOP performed on our department due to fetal abnormalities between January 1, 2000, and December 31, 2007.
Fabiana Ramos, Sofia Maia, Miguel Branco, Joana Raposo, Joaquim Sá, Sérgio Sousa, Margarida Venâncio, Raquel Pina, Eulália Galhano, Lina Ramos, Jorge Saraiva, N. A. Ginsberg, J. L. Neyro, B. Pertl   +13 more
wiley   +1 more source

Prenatal Diagnosis of Complete Atrioventricular Septal Defect: Perinatal and Neonatal Outcomes

Obstetrics and Gynecology International, Volume 2009, Issue 1, 2009., 2009
Objective. The purpose of this study was to establish the outlook for fetuses diagnosed with complete atrioventricular septal defect (cAVSD) prenatally and its relation to additional cardiac, extracardiac, and chromosomal abnormalities. Methods. We retrospectively reviewed fetal echocardiograms diagnosed with cAVSD from January 2002 to December 2007 ...
Gokhan Yıldırım, Kemal Gungorduk, Fehmi Yazıcıoğlu, Ahmet Gul, Fatma Çakar, Özgü Çelikkol, Yavuz Ceylan, Errol R. Norwitz   +7 more
wiley   +1 more source