Search results for "Monogen"
showing 10 items of 50 documents
Tasso di persistenza in terapia di anakinra e canakinumab nelle malattie autoinfiammatorie monogeniche: studio osservazionale dal registro internazio…
2021
Perspective validation of the eurofever classification criteria for monogenic periodic fevers.
2014
We recently proposed a set of provisional, evidence-based, clinical criteria for the classification of children and adults patients affected by monogenic periodic fevers. These criteria, built and validated in a cohort of 1215 patients with periodic fever enrolled in the Eurofever Registry from November 2009 to February 2013, displayed a high sensitivity and specificity.
Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene
2006
Summary Objective Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. Design The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from genomic DNA. Patients Two girls found to have CH in the neonatal screening programme and suspected of having thyroid dyshormonogenesis were investigated to identify their molecular defect. Results Patient A had a novel heterozygous 1 bp insertion in the THOX2 gene (ins602…
Congenital hypothyroidism: A 2020-2021 consensus guidelines update-An ENDO-European Reference Network initiative endorsed by the European Society for…
2021
Background: An ENDO-European Reference Network (ERN) initiative was launched that was endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology with 22 participants from the ENDO-ERN and the two societies. The aim was to update the practice guidelines for the diagnosis and management of congenital hypothyroidism (CH). A systematic literature search was conducted to identify key articles on neonatal screening, diagnosis, and management of primary and central CH. The evidence-based guidelines were graded with the Grading of Recommendations, Assessment, Development and Evaluation system, describing both the strength of recommendations and the quali…
Parasites of Diplodus puntazzo in Western Mediterranean: Morphological, developmental and host-parasite relationships of monogeneans
2014
En España la acuicultura ha experimentado un gran crecimiento durante el pasado siglo, sin embargo, durante los últimos años se ha producido una disminución en la producción de las especies de cultivo más importantes, como la dorada, la lubina y el rodaballo (APROMAR, 2011). Esta situación ha supuesto la primera reducción en la producción de los últimos 25 años. Por este motivo, los productores españoles apuestan por la recuperación de la productividad y el aumento de la competitividad en el mercado y, para poder llevar a cabo estas mejoras, uno de los objetivos marcados es diversificar las especies cultivadas (APROMAR, 2011). En el Mediterráneo español, una de las especies candidatas para …
Human-induced hybridization and population bottleneck : population genetics, morphometrics and parasitology applied to the invaded and invasive tilap…
2011
Biological invasions are recognized as a significant evolutionary factor over short time scales. In particular, their effect is well recorded on the genetic structure of populations, the patterns of phenotypic evolution and the richness of parasite fauna associated to invasive populations. This study aims at quantifying the consequences of a biological invasion according to these three levels (genetical, phenotypical and parasitological) taking as example the Mozambique tilapia Oreochromis mossambicus. This African cichlid is characterized by an unusual conservation status since it is both (i) ranked among the world’s worst invasive species due to its global dispersion during the 20th centu…
Seasonal population dynamics of Zeuxapta seriolae (Monogenea: Heteraxinidae) parasitising Seriola dumerili (Carangidae) in the Western Mediterranean.
2013
We examined the seasonal and yearly population dynamics of the monogenean pathogen Zeuxapta seriolae on juvenile fish from wild populations of Seriola dumerili. The study is based on bimonthly monitoring between April, 2005 and April, 2007 off Majorca, and newly obtained monogenean population data for juvenile fish from three additional localities in the Western Mediterranean (off Alicante, Corsica and Sardinia). We documented the highest intensities and abundances of Z. seriolae, with mean abundance values similar to or higher than those reported in the single case of wild fish mortalities reported to date. There was a recurrent pattern of seasonal change in infection with Z. seriolae in t…
Developmental Abnormalities of the Thyroid
2010
Publisher Summary This chapter explores the abnormalities in the development of the thyroid gland during organogenesis referred to as thyroid dysgenesis. Permanent primary congenital hypothyroidism (CH) is mentioned to be the most common congenital endocrine disorder as estimated from systematic biochemical screening of newborns. The functional disorders of the thyroid gland are known as thyroid dyshormonogenesis and this disorder is typically inherited in an autosomal recessive manner and common in populations with a high degree of consanguinity. It briefly reviews the single gene disorders that cause CH from thyroid dysgenesis, and mutations that activate the thyrotropin receptor (TSH) re…
Phenotypic Buffering in a Monogenean: Canalization and Developmental Stability in Shape and Size of the Haptoral Anchors of Ligophorus cephali (Monog…
2015
Phenotypic variation results from the balance between sources of variation and counteracting regulatory mechanisms. Canalization and developmental stability are two such mechanisms, acting at two different levels of regulation. The issue of whether or not they act concurrently as a common developmental buffering capacity has been subject to debate. We used geometric morphometrics to quantify the mechanisms that guarantee phenotypic constancy in the haptoral anchors of Ligophorus cephali. Canalization and developmental stability were appraised by estimating inter- and intra-individual variation, respectively, in size and shape of dorsal and ventral anchors. The latter variation was estimated…
(no title)
2017
Biological invasions are recognized as a significant evolutionary factor over short time scales. In particular, their effect is well recorded on the genetic structure of populations, the patterns of phenotypic evolution and the richness of parasite fauna associated to invasive populations. This study aims at quantifying the consequences of a biological invasion according to these three levels (genetical, phenotypical and parasitological) taking as example the Mozambique tilapia Oreochromis mossambicus. This African cichlid is characterized by an unusual conservation status since it is both (i) ranked among the world's worst invasive species due to its global dispersion during the 20th centu…