Zobrazeno 1 - 10
of 88
pro vyhledávání: '"F, Nomballais"'
Publikováno v:
Archives de Pédiatrie. 7:40-44
Publikováno v:
Archives de Pédiatrie. 2:965-972
Resume Les investigations post mortem completes ou l'autopsie tient une place majeure sont essentielles pour comprendre la cause et/ou le mecanisme du deces au cours des morts subites du nourrisson (MSN). Le but de cette etude est d'envisager l'appor
Publikováno v:
Prenatal Diagnosis. 15:189-192
A case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy reveale
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 7(1)
Neonatal hemochromatosis is characterized by abnormal hepatic and extrahepatic iron overload, which spares the reticuloendothelial system. In neonates, hemochromatosis results in an acute and frequently lethal liver failure.We report five cases of ne
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 5(1)
Refractory hypoxemia in the newborn requires a precise diagnostic investigation for optimal and fast management.A full term newborn presented with refractory hypoxemia associated with radiologically clear lung fields and extrapulmonary shunt. Echocar
Autor:
N, Winer, M, Lefèvre, M F, Nomballais, A, David, J M, Rival, V, Gournay, T, Debillon, J C, Rozé, G, Boog
Publikováno v:
Fetal diagnosis and therapy. 13(4)
Persisting spongy myocardium (also known as noncompaction of the ventricular myocardium) is a rare and special form of cardiomyopathy. The few cases reported in the literature were detected postnatally and involved a high rate of cardiovascular compl
Publikováno v:
La Revue de medecine interne. 19(6)
Neuroendocrine tumors are rare, with poor prognosis when not or poorly differentiated.The authors report the case of a patient who presented with a metastatic poorly differentiated neuroendocrine tumor that was resistant to chemotherapy. The differen
Publikováno v:
Annales de genetique. 41(2)
We describe the combined use of comparative genomic hybridization (CGH) and fluorecence in situ hybridization (FISH) to identify the origin of de novo unbalanced translocations in a fetus with abnormalities on ultrasound examination and in a newborn
Autor:
C, Mainguene, N, Clement, E, Cassagnau, F, Nomballais, A, Gavelli, A, Marmorale, P, Brunner, C, Huguet
Publikováno v:
Annales de pathologie. 18(2)
Congenital hepatic fibrosis (CHF), is an autosomal recessive disease, presenting principally in childhood with portal hypertension and/or cholangitis, and often associated with renal malformations. The forms presenting later in adults are rare, and i
Publikováno v:
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 4(3)
Hepatoportal sclerosis is uncommon in European countries and its diagnosis is difficult. The etiology remains unknown; its familial origin is probably exceptional.An 18-month-old girl born to a mother with hepatoportal sclerosis had hepatomegaly. She