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Biomedical subjects

G Moya

Publications and source records attributed to G Moya.

At least 19 recordsLinked to original sources
PubMed2001

Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy.

Two cases of trisomy 4 mosaicism are reported including one with molecularly confirmed uniparental disomy (UPD) of chromosome 4. Cytogenetic analysis of a chorionic villus sample (CVS) in Case 1 showed complete trisomy 4 in trophoblast and diploidy in chorionic stroma. Amniotic fluid analysis demonstrated a 46,XX complement. After intrauterine fetal death at 30 weeks, molecular analysis confirmed the presence of trisomy 4 of maternal meiotic origin, while fetal tissues showed maternal UPD for chromosome 4. Cultured CVS in Case 2 revealed trisomy 4 in 2/30 cells analyzed. This pregnancy resulted in a healthy livebirth with biparental inheritance of chromosome 4. Molecularly confirmed UPD4 has not been previously reported, and therefore, although the adverse outcome in Case 1 is likely due to the trisomy 4 in the placenta, an imprinting effect associated with UPD4 cannot be excluded.

Adult↗
PubMed1999

[Primary ciliary dyskinesia. Experience in 6 patients].

BACKGROUND: Primary ciliary dyskinesia is characterized by a congenital alteration of the ciliary ultrastructure and function. As a consequence, their respiratory tract sweeping action is lost and recurrent respiratory infections ensue. AIM: To analyze a clinical series of patients with primary ciliary dyskinesia, their clinical and laboratory features. PATIENTS AND METHODS: A retrospective review of patients with primary ciliary dyskinesia seen a University Hospital, between 1994 and 1998. Bronchial biopsies were obtained with 3.6 mm diameter Olympus fibrobronchoscope, using a cayman type forceps. Ultrastructural alterations of respiratory tract ciliated cells were recorded. RESULTS: Six patients (four male) aged 9 months to 13 years old were reviewed. Three patients had situs inversus. All had repeated bouts of obstructive bronchitis and pneumonia, five had sinusitis, four atelectasis, three recurrent otitis and three had bronchiectasis. Cystic fibrosis and immunological alterations were ruled out in five children. Ultrastructural analysis revealed absence of dynein arms in three cases, absence of the internal dynein arm in one, additional peripheral microtubules and absence of dynein arms in one case. CONCLUSIONS: Primary ciliary dyskinesia must be considered in the differential diagnosis of recurrent respiratory infections. Ultrastructural analysis of ciliary structure can be done in bronchial biopsies obtained through bronchoscopy.

Adolescent↗
PubMed1998

[Obtention and characterization of murine beta-NGF. Application in a model of cerebral aging].

INTRODUCTION: beta-NGF is a basic protein of 118 aminoacids which acts are a trophic factor for sensory and sympathetic neurons of the peripheral nervous system, and on cholinergic neurons of the anterior basal cerebrum. OBJECTIVES: In view of the functional effect of beta-HGF and its possibilities as a therapeutic agent in neurodegenerative disease, including Alzheimer's disease in this study our aim was to obtain, characterize and show the main results of the application of beta-NGFm in a model of cerebral ageing in rats with cognitive disorders. MATERIAL AND METHODS: For the obtention of beta-NGFm we followed Mobley's method as modified by Ebendal and used mouse submaxillary gland as a source of raw material. The characterization studies were carried out by application of seven techniques which allowed physicochemical characterization and demonstration of the biological activity of the product. Application of beta-NGF obtained under these conditions was carried out in a mode of cerebral ageing and the effects of treatment were assessed by conduct studies, measurement of the activity of the enzyme acetyl cholinesterase and study of neural plasticity. CONCLUSIONS: Characterization studies carried out on the beta-NGFm showed that the protein obtained consists of a mixture of molecules of beta-NGFm which are intact at their extreme N-Terminal, and molecules which have lost the octapeptide of the N-terminal position and show some modification increasing hydrophobicity. All these species were recognized immunologically by the specific antibody anti-NGFm and showed biological activity.

Aging↗
PubMed1997

Severe fetal malformations associated with trisomy 16 confined to the placenta.

Chorionic villus sampling (CVS) and amniocentesis were performed on a pregnant woman during her 24th week of amenorrhoea following an ultrasound scan which showed a fetus with hydrocephaly, intrauterine growth retardation (IUGR), and a single umbilical artery. The direct karyotype from the cytotrophoblast was non-mosaic 47,XXX,+16, while in amniotic fluid and several fetal tissues, studied post-mortem, a normal 46,XX karyotype was found in more than 400 cells. Uniparental disomy (UPD) was excluded by molecular genetic studies. Autopsy confirmed the echographic findings; in addition, agenesis of the corpus callosum and polysplenia were observed. This is the second example of congenital abnormality associated with confined placental mosaicism (CPM) for trisomy 16, without evidence of either UPD or an apparent contribution of abnormal cells to the fetus.

Adult↗