Search results for "lobo"
showing 10 items of 83 documents
Congenital hypopituitarism and multiple midline defects in a newborn with non-familial Cat Eye syndrome
2022
Abstract Background Cat eye syndrome (CES) is a rare chromosomal disease, with estimated incidence of about 1 in 100,000 live newborns. The classic triad of iris coloboma, anorectal malformations, and auricular abnormalities is present in 40% of patients, and other congenital defects may also be observed. The typical associated cytogenetic anomaly relies on an extra chromosome, derived from an inverted duplication of short arm and proximal long arm of chromosome 22, resulting in partial trisomy or tetrasomy of such regions (inv dup 22pter-22q11.2). Case presentation We report on a full-term newborn, referred to us soon after birth. Physical examination showed facial dysmorphisms, including …
Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of…
2022
Abstract Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynost…
Planktonic foraminifera in ODP Hole 160-963A
2006
New faunal and floral records from Ocean Drilling Project Hole 963A, resolved at ?80-year spacing, provide evidence of suborbital scale climate variability in the central Mediterranean Sea throughout Marine Isotope Stage (MIS) 5. Cold events in the central Mediterranean Sea, indicated by low abundances of warm species and high abundances of cold species, are also evident in a planktonic foraminifera paleoclimatic curve. They have been linked to NGRIP Greenland ice core “C” events and appear correlative with similar sub-millennial climate fluctuations identified in the North Atlantic region and in the Alboran Basin (Westernmost Mediterranean). Low-resolution benthic and planktonic Oxygen Iso…
FISH of supernumerary marker chromosomes (SMCs) identifies six diagnostically relevant intervals on chromosome 22q and a novel type of bisatellited S…
2005
Supernumerary marker chromosomes (SMCs) are frequently found at pre- and postnatal cytogenetic diagnosis and require identification. A disproportionally large subset of SMCs is derived from the human chromosome 22 and confers tri- or tetrasomy for the cat eye chromosomal region (CECR, the proximal 2 Mb of chromosome 22q) and/or other segments of 22q. Using fluorescence in situ hybridization (FISH) and 15 different DNA probes, we studied nine unrelated patients with an SMC(22) that contained the CECR. Five patients showed the small (type I) cat eye syndrome (CES) chromosome and each one had the larger (type II) CES chromosome, small ring chromosome 22, der(22)t(11;22) extrachromosome, and a …
Karyotypic diversity among Blastocystis hominis isolates
1997
Fifteen Blastocystis hominis strains, 13 axenic and 2 monoxenic, have been included in the present study. The chromosomal pattern was analyzed by the contour-clamped homogeneous electric-field (CHEF) system. The number of chromosomes detected ranged between 9 and 13, with sizes from 2200 kbp to 260 kbp. Eleven karyotypic profiles, with a common pattern constituted by 8 chromosomes of 2200, 1280, 890, 840, 700, 650, 540 and 260 kbp, were observed. The Jaccard index demonstrated that the similarity between isolates ranged from 0.5714 to 1. The different isolates were clustered in 3 karyotypes (A: 8 isolates; B: 6 isolates and C: 1 isolate). All isolates grouped in karyotype A presented a char…
Acanthamoeba isolates belonging to T1, T2, T3, T4 and T7 genotypes from environmental freshwater samples in the Nile Delta region, Egypt.
2006
The free-living amoebae of the genus Acanthamoeba include non-pathogenic and pathogenic species and has been recently classified into 15 different genotypes, T1–T15. In this study, a survey was conducted in order to determine the presence and pathogenic potential of free-living amoebae of Acanthamoeba genus in freshwater sources associated with human activities in the Nile Delta region, Egypt. Identification of Acanthamoeba was based on the morphology of cyst and trophozoite forms and PCR amplification with a genus specific primer pair. The pathogenic potential of Acanthamoeba isolates was characterized using temperature and osmotolerance assays and PCR reactions with two primer pairs speci…
Estudio del desarrollo del macizo craneaofacial y del globo ocular en un modelo de hipotiroidismo congénito-neonatal 2en la rata
2000
RESUMEN Nuestro objetivo es identificar factores que regulen procesos de diferenciación y proliferación celular en el globo ocular y tejidos anexos, cuya alteración estuviera relacionada con la aparición de dismorfogénesis ocular. Basándonos en publicaciones que demuestran que la hormona tiroidea (HT) modula la expresión génica en el cerebro, hemos estudiado si el hipotiroidismo congénito-neonatal (HPCN) inducido experimentalmente en la rata gestante (G) interfiere en el desarrollo embrionario de estructuras del macizo craneofacial y esbozo ocular y particularmente en la ontogénesis de la retina. El HPCN se logró mediante administración ininterrumpida a las ratas en el agua de bebida, desde…
La familia española en el tardofranquismo : una aproximación desde el humor gráfico de Hermano Lobo
2016
El objetivo de la comunicación es caracterizar la institución familiar, en los últimos años de la dictadura franquista, y determinar su tratamiento a través del humor gráfico del semanario, Hermano Lobo. Con este fin, se analizan las viñetas publicadas en la revista en las que aparezcan escenas familiares. Hermano Lobo surge en 1972, enmarcado en los años finales del franquismo, y desaparece en plena Transición Democrática, en el verano de 1976. Su principal promotor fue Chumy Chúmez, que pretendía acabar con el reinado de la revista de humor, La Codorniz, con una revista muy visual y ligera. Summers, El Perich, Gila, Forges y Ops serían algunos de sus colaboradores gráficos del semanario j…