scholarly journals Newborn Screening for Homocystinuria Revealed a High Frequency of MAT I/III Deficiency in Iberian Peninsula

2014 ◽  
pp. 113-120 ◽  
Author(s):  
Ana Marcão ◽  
María L. Couce ◽  
Célia Nogueira ◽  
Helena Fonseca ◽  
Filipa Ferreira ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Iberian Peninsula ◽  
High Frequency

High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening

2019 ◽  
Vol 32 (5) ◽  
pp. 499-504
Author(s):  
Patrícia S. Castro ◽  
Tatiana O. Rassi ◽  
Raquel F. Araujo ◽  
Isabela L. Pezzuti ◽  
Andresa S. Rodrigues ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Newborn Screening ◽  
Molecular Analysis ◽  
High Frequency ◽  
Clinical Status ◽  
Confirmatory Test ◽  
Adrenal Hyperplasia ◽  
Asymptomatic Children ◽  
17 Hydroxyprogesterone

Abstract Background Early diagnosis after newborn screening (NBS) for congenital adrenal hyperplasia (CAH) allows proper treatment, reducing mortality rates and preventing development of hyperandrogenic manifestations and incorrect sex assignment at birth. Despite the high NBS sensitivity to detect CAH classical forms, one of the main issues is identifying asymptomatic children who remained with increased 17-hydroxyprogesterone (17-OHP) levels. In this study, we aimed to contribute to understanding the diagnosis of these children. Methods Children with increased serum 17-OHP levels, and without disease-related clinical features during follow-up, underwent the entire CYP21A2 gene sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis (SALSA MLPA P050B CAH). Patients’ genotypes were subsequently sorted as compatible with CAH disease, and children were evaluated to determine the clinical status. Results During the study period, 106,476 newborns underwent CAH NBS. During follow-up, 328 children (0.3%) were identified as having false-positive tests and 295 were discharged after presenting with 17-OHP levels within reference values. Thirty-three remained asymptomatic and with increased serum 17-OHP levels after a mean follow-up of 3.4 years, and were subjected to molecular analysis. Seventeen out of the 33 children carried mutations: seven in the heterozygous state, nine carried non-classical genotypes and the remaining child carried a classical genotype. Conclusions We found a high frequency of non-classical CAH (NCCAH) diagnosis among children with persistent elevation of 17-OHP levels. Our findings support molecular study as decisive for elucidating diagnosis in these asymptomatic children. Molecular analysis as a confirmatory test is relevant to guide their follow-up, allows genetic counseling and avoids over treating NCCAH form.

scholarly journals An Unexpectedly High Frequency of Hypergalactosemia in an Immigrant Bosnian Population Revealed by Newborn Screening

2002 ◽  
Vol 51 (5) ◽  
pp. 598-601 ◽  
Author(s):  
Susanne Reich ◽  
Julia Hennermann ◽  
Barbara Vetter ◽  
Luitgard M Neumann ◽  
Yoon S Shin ◽  
...  
Keyword(s):  
Newborn Screening ◽  
High Frequency

scholarly journals High frequency of biotinidase deficiency in Italian population identified by newborn screening

2020 ◽  
Vol 25 ◽  
pp. 100689
Author(s):  
Silvia Funghini ◽  
Rodolfo Tonin ◽  
Sabrina Malvagia ◽  
Anna Caciotti ◽  
Maria Alice Donati ◽  
...  
Keyword(s):  
Newborn Screening ◽  
High Frequency ◽  
Biotinidase Deficiency ◽  
Italian Population

Biodiversity of Apis mellifera iberica (Hymenoptera: Apidae) from northeastern Spain assessed by mitochondrial Analysis

2005 ◽  
Vol 36 (1) ◽  
pp. 21-28 ◽  
Author(s):  
Pilar De La Rúa ◽  
José Galián ◽  
José Serrano ◽  
Raquel Hernández-García ◽  
Yolanda Jiménez
Keyword(s):  
Apis Mellifera ◽  
Iberian Peninsula ◽  
High Frequency ◽  
Human Influence ◽  
Natural Evolution ◽  
The West ◽  
Molecular Variability ◽  
East European ◽  
New Information ◽  
Evolutionary Lineages

AbstractThe molecular variability has been analysed at the mitochondrial level in 288 honeybee colonies from 28 localities distributed along the four Catalonian provinces. In total sixteen different haplotypes belonging to three evolutionary lineages were found. The west European M lineage has been found at a high frequency in the four provinces and is fixed in Lérida, whereas the African A lineage shows a cline of distribution being more frequent in the northern Catalonia. The east European C lineage has been found in three colonies (one in Gerona and two from Barcelona). These results are most likely attributable to natural evolution events but the human influence should also be considered as an agent causing recent changes in the distribution of the honeybee populations. New insights about the evolution of the honeybee populations from the Iberian Peninsula are discussed in the light of the new information provided.

scholarly journals A high frequency of the Cystic Fibrosis 2184insA mutation in Western Ukraine: Genotype–phenotype correlations, relevance for newborn screening and genetic testing

2010 ◽  
Vol 9 (5) ◽  
pp. 371-375 ◽  
Author(s):  
Halyna Makukh ◽  
Petra Křenková ◽  
Marta Tyrkus ◽  
Lyudmyla Bober ◽  
Miroslava Hančárová ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Newborn Screening ◽  
High Frequency ◽  
Western Ukraine

The Microstructure of Steatite (Protoenstatite)

1985 ◽  
Vol 43 ◽  
pp. 236-237
Author(s):  
W. E. Lee ◽  
A. H. Heuer
Keyword(s):  
High Frequency ◽  
Glass Ceramics ◽  
Magnesium Silicate ◽  
Beam Current ◽  
Glassy Matrix ◽  
Angle Of Incidence ◽  
X Ray ◽  
Mechanical And Electrical Properties ◽  
Argon Ions ◽  
High Temperature Polymorph

IntroductionTraditional steatite ceramics, made by firing (vitrifying) hydrous magnesium silicate, have long been used as insulators for high frequency applications due to their excellent mechanical and electrical properties. Early x-ray and optical analysis of steatites showed that they were composed largely of protoenstatite (MgSiO3) in a glassy matrix. Recent studies of enstatite-containing glass ceramics have revived interest in the polymorphism of enstatite. Three polymorphs exist, two with orthorhombic and one with monoclinic symmetry (ortho, proto and clino enstatite, respectively). Steatite ceramics are of particular interest a they contain the normally unstable high-temperature polymorph, protoenstatite.Experimental3mm diameter discs cut from steatite rods (∼10” long and 0.5” dia.) were ground, polished, dimpled, and ion-thinned to electron transparency using 6KV Argon ions at a beam current of 1 x 10-3 A and a 12° angle of incidence. The discs were coated with carbon prior to TEM examination to minimize charging effects.

Simulations of high-resolution images of amorphous silicon films

1986 ◽  
Vol 44 ◽  
pp. 544-545
Author(s):  
G. Y. Fan ◽  
J. M. Cowley
Keyword(s):  
Electron Microscope ◽  
High Frequency ◽  
Fourier Transformation ◽  
Amorphous Materials ◽  
Low Frequency ◽  
Chromatic Aberration ◽  
Structure Information ◽  
Frequency Components ◽  
High Resolution Images ◽  
Spatial Frequency Spectrum

It is well known that the structure information on the specimen is not always faithfully transferred through the electron microscope. Firstly, the spatial frequency spectrum is modulated by the transfer function (TF) at the focal plane. Secondly, the spectrum suffers high frequency cut-off by the aperture (or effectively damping terms such as chromatic aberration). While these do not have essential effect on imaging crystal periodicity as long as the low order Bragg spots are inside the aperture, although the contrast may be reversed, they may change the appearance of images of amorphous materials completely. Because the spectrum of amorphous materials is continuous, modulation of it emphasizes some components while weakening others. Especially the cut-off of high frequency components, which contribute to amorphous image just as strongly as low frequency components can have a fundamental effect. This can be illustrated through computer simulation. Imaging of a whitenoise object with an electron microscope without TF limitation gives Fig. 1a, which is obtained by Fourier transformation of a constant amplitude combined with random phases generated by computer.

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