Results 81 to 90 of about 1,234,995 (195)

The modified Fontan operation for asplenia and polysplenia syndromes

The Journal of Thoracic and Cardiovascular Surgery, 1988
From 1975 through 1986, 49 patients with asplenia (23 patients) or polysplenia (26 patients) syndromes underwent a modified Fontan operation. All patients had anomalous systemic venous return, and 43 (88%) had anomalous pulmonary venous return.
R A, Humes, R H, Feldt, C J, Porter, P R, Julsrud, F J, Puga, G K, Danielson   +5 more
openaire   +2 more sources

Prenatal imaging diagnosis of iniencephaly apertus associated with heterotaxy syndrome, alobar holoprosencephaly and myelomeningocele: a case report

AJOG Global Reports
Iniencephaly is a predominantly lethal and rare form of neural tube defect characterized by fixed hyperextension of the head, occipital bone abnormalities, and cervical dysraphism.
Jorge L. Minchola-Vega, MD, Víctor E. Zamora-Mostacero, MD, Claudia I. Lazarte-Rantes, MD   +2 more
doaj   +1 more source

Long-term survival and phenotypic spectrum in heterotaxy syndrome: a 25-year follow-up experience

, 2018
Background: Heterotaxy syndrome (HS) is a group of congenital disorders characterized by abnormal arrangement of thoraco-abdominal organs across the left-right axis of the body, classified as right (RAI) and left atrial isomerism (LAI)·We investigated ...
Baban, Anwar, Carsetti, Rita, Cantarutti, Nicoletta, ADORISIO, Rachele, Digilio, Maria Cristina, Calcagni, Giulio, LOMBARDI, ROBERTA, Drago, Fabrizio, Piano Mortari, Eva, Giannico, Salvatore, Marino, Bruno, Carotti, Adriano, Dallapiccola, Bruno, IORIO, FIORE SALVATORE   +13 more
core   +1 more source

Infections in sickle cell disease

Haematologica
Sickle cell disease (SCD) is one of the commonest severe inherited disorders in the world. Infection accounts for a significant amount of the morbidity and mortality, particularly in sub- Saharan Africa, but is relatively poorly studied and ...
Lily E.A. Scourfield, Amina Nardo-Marino, Thomas N. Williams, David C. Rees   +3 more
doaj   +1 more source

Asplenia in a patient with Fanconi's anemia-like congenital aplastic anemia

, 2000
Fanconi's anemia (FA) is an autosomal recessive disease manifested by pancytopenia resulting from bone marrow failure, variable physical anomalies and cancer susceptibility.
Gülay Kaya, Alişan Yıldıran, Erol Erduran, Ayşenür Ökten   +3 more
core   +2 more sources

Position statement of the Spanish Society of Paediatric Infectious diseases on the diagnosis and treatment of Mycoplasma pneumoniae infection

Anales de Pediatría (English Edition)
Mycoplasma pneumoniae (M. pneumoniae) is a bacterium with particular characteristics that give rise to a broad clinical spectrum, being respiratory infection the most frequent presentation. Infection by M.
Walter Alfredo Goycochea-Valdivia, Josefa Ares Alvarez, Antonio José Conejo Fernández, Ana Belén Jiménez Jiménez, Irene Maté Cano, Teresa de Jesús Reinoso Lozano, Carlos Rodrigo Gonzalo de Liria   +6 more
doaj   +1 more source

An Unusual Case of Heterotaxy Syndrome [PDF]

Introduction: Heterotaxy syndrome (HS), also referred to as situs ambiguous, is a rare congenital condition marked by the abnormal positioning and asymmetry of thoracoabdominal organs in relation to the body\u27s midline.
Kosoy, David, Simon, Jesse, Kay, Paul (presenting at HCA), Mata, Jose, Jaszewski, Kevin   +4 more
core  

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation

, 2017
STIM1 is a reticular Ca2+ sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic ...
Bédat-Millet, Anne-Laure, Stojkovic, Tanya, Peche, Georges Arielle, Malfatti, Edoardo, Noury, Jean-Baptiste, Chiche, Léa, Carlier, Robert-Yves, Guyant-Maréchal, Lucie, Bohm, Johann, Romero, Norma   +9 more
core   +1 more source

A case with asplenia syndrome

, 2005
Aspleni sendromu kompleks kardiyovasküler sistem anomalilerinin eşlik ettiği ender görülen bir durumdur. Dört aylık erkek vaka, öksürük, burun akıntısı yakınmaları ile başvurduğu doktor tarafından üfürümü olması nedeniyle hastanemize sevk edilmişti ...
Zülal Ülger, Bedir Akyol, Arif Ruhi Özyürek, Dolunay Gürses, Ertürk Levent, Neslihan Edeer   +5 more
core  

OASI Biobank: Advancing Asplenia Research through Integrated Bioinformatics and Collaborative Infrastructure

The OASI project stems from the collaboration of the Institute of Genetics and Biophysics (IGB) and the Institute of Computing and High-Performance Networks (ICAR) of the National Research Council (CNR) in Naples with the University of Campania "Luigi ...
Laura Casalino, Marcella Vacca, Maddalena Casale, Maurizio Giordano, Ilaria Granata   +4 more
core   +1 more source