49 CFR 1242.34 - Administration (account XX-26-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-26-01). 1242.34 Section...-Equipment § 1242.34 Administration (account XX-26-01). Separate common expenses according to distribution of common expenses in the following accounts: Repair and Maintenance (XX-26-41) Machinery Repair (XX-26-40...

Vocational Training in Portugal.

ERIC Educational Resources Information Center

Mota, Artur; And Others

This report on vocational training in Portugal contains 8 chapters, a 26-item bibliography, and 2 appendices. Chapter 1 describes the geography, political system, population, and employment situation of Portugal. Chapter 2 describes the economic framework of Portugal. Chapter 3 describes the education system, the apprenticeship system, other…

49 CFR 1242.12 - Administration-signals (account XX-19-04).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-signals (account XX-19-04). 1242.12... Structures § 1242.12 Administration—signals (account XX-19-04). Separate common administration—signals... (XX-17-19) Switching (XX-18-19) ...

Medicinal Product Regulation: Portugal׳s Framework.

PubMed

Herdeiro, Maria Teresa; Bastos, Paulo D; Teixeira-Rodrigues, António; Roque, Fátima

2016-09-01

The pharmaceutical industry is one of the most tightly regulated sectors, and it is essential to know each country׳s legal framework to understand the regulation, approval, and marketing of medicinal products for human use. This article describes the main statutes and procedures governing medicinal products for human use in Portugal and the role of the country׳s National Medicines and Health Products Authority (Autoridade Nacional do Medicamento e Produtos de Saúde, I.P.; INFARMED). From the most recently available data, an update of requests and approvals concerning marketing authorizations, variations, pricing, and reimbursements is provided. Data were sourced from the INFARMED website, Infomed (database of medicinal products for human use), and periodic reports issued by national authorities. Organic laws, acts, and law decrees published in the government gazette (Diário da República) are cited and reproduced as required. In 2015 Portugal ranked fifth in the European System of Medicines Evaluation in terms of the number of completed procedures as a reference member state. Approximately 80% of all approved drug applications in Portugal in 2015 were for generic drugs, mostly pertaining to the nervous system. In Portugal, INFARMED monitors drug quality, safety profile, and efficacy in all stages of the drug life cycle, ensuring patients' safety. The Portuguese market for medicinal products for human use has been appreciably changed by the advent of generic drugs. There is an increased trend for new request applications for biological and biotechnological substances. Copyright © 2016 Elsevier HS Journals, Inc. All rights reserved.

Roadmap Through Title XX. Financing Services for Children Through Title XX and Other Programs: Manual 5.

ERIC Educational Resources Information Center

Copeland, William C.; Iversen, Iver A.

This manual, part of a Hecht Institute four-manual series entitled Financing Children's Services Through Title XX and Related Programs, teaches what Title XX regulations are, what they mean, and what actions and procedures are commanded by them. The first section covers the necessity of rule systems, the characteristics of a good rule system and…

49 CFR 1242.18 - Communication systems (account XX-19-20).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems (account XX-19-20). 1242.18... Structures § 1242.18 Communication systems (account XX-19-20). Separate common expenses on the basis of the... (accounts XX-19-02 to XX-19-04, inclusive) Equipment—Administration—Locomotives and Other Equipment...

49 CFR 1242.47 - Machinery (account XX-27-40).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Machinery (account XX-27-40). 1242.47 Section 1242...-Equipment § 1242.47 Machinery (account XX-27-40). Separate common expenses on the basis of the freight/passenger separation of administration (account XX-27-01). ...

49 CFR 1242.43 - Administration (account XX-27-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration (account XX-27-01). 1242.43 Section...-Equipment § 1242.43 Administration (account XX-27-01). Separate common expenses according to freight/passenger separation of the following accounts: Passenger and Other Revenue Equipment (XX-27-45) Work and...

Inherited XX sex reversal originating from wild medaka populations.

PubMed

Shinomiya, A; Otake, H; Hamaguchi, S; Sakaizumi, M

2010-11-01

The teleost fish, medaka (Oryzias latipes), has an XX/XY sex-determining mechanism. A Y-linked DM domain gene, DMY, has been isolated by positional cloning as the sex-determining gene in this species. Previously, we conducted a field survey of genotypic sex and found that approximately 1% of wild medaka are sex-reversed (XX males and XY females). Here, we performed genetic analyses of nine spontaneous XX sex-reversed males to elucidate its genetic basis. In all cases, the F(1) progeny were all females, whereas XX males reappeared in the backcross (BC) progeny, suggesting that XX sex reversal is a recessive trait. Although the incidences of sex reversal in the BC progeny were mostly low, 40% were males derived from one XX male. We performed linkage analysis using 55 BC males and located a single major factor, sda-1 (sex-determining autosomal factor-1), controlling sex reversal in an autosomal linkage group. Thus, genes involved in the sex-determining pathway can be isolated from spontaneous mutants in wild populations.

Contrails over Lisbon, Portugal

NASA Image and Video Library

2008-09-05

This image from NASA EarthKAM shows Lisbon, the capital of Portugal. The superb natural harbor at Lisbon is a commercially important European port handling much of the import-export traffic for Portugal and Spain.

45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.

PubMed

Nieto, Karem; Peña, Rocío; Palma, Icela; Dorantes, Luis M; Eraña, Luis; Alvarez, Rebeca; García-Cavazos, Ricardo; Kofman-Alfaro, Susana; Queipo, Gloria

2004-10-15

Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual. Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH in peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases.

The reddening and variability of XX Ophiuchi

NASA Technical Reports Server (NTRS)

Evans, A.; Albinson, J. S.; Barrett, P.; Davies, J. K.; Goldsmith, M. J.; Hutchinson, M. G.; Maddison, R. C.

1993-01-01

We present polarization data on the XX Oph system which suggest that the interstellar extinction to this object has been overestimated in the past: our data imply A(V) = 1.6 mag. Our photometry and infrared spectroscopy suggest a spectral class of M7III for the late component, and a BOV companion that ionizes the wind of the cool component. XX Oph seems more like a Zeta Aur/VV Cep system than a 'symbiotic object'. The photometric variability of XX Oph seems to have a number of causes, ranging from shell-type variability in the U band to variations in the M component in the infrared.

49 CFR 1242.14 - Administration-other (account XX-19-06).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-other (account XX-19-06). 1242.14... Structures § 1242.14 Administration—other (account XX-19-06). Separate common administration—other expenses... accounts are separated between freight and passenger services: Administration: Track (XX-19-02) Bridges and...

49 CFR 1242.13 - Administration-communica- tions (account XX-19-05).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-communica- tions (account XX-19-05... Structures § 1242.13 Administration—communica- tions (account XX-19-05). Separate common administration... (XX-19-20) ...

49 CFR 1242.25 - Locomotive servicing facilities (account XX-19-27).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and...) Electric Power Purchased or Produced for Motive Power (XX-51-68 and XX-52-68) Servicing Locomotives (XX-51...

Basic Needs and Education in Portugal. The Portugal Project. Document No. XIII.

ERIC Educational Resources Information Center

Erasmie, Thord

The aim of this study was to describe and compare the socio-economic factors that can be expected to influence the education system in Portugal, where urbanization has been very slow. The report examines basic needs in Portugal's 18 districts and makes recommendations about resource allocation to planners of adult education programs. Extensive…

49 CFR 1242.16 - Road property damaged-other (account XX-19-48).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Road property damaged-other (account XX-19-48... Structures § 1242.16 Road property damaged—other (account XX-19-48). Separate common expenses in proportion... accounts: Road Property Damaged—Running (XX-17-48) Road Property Damaged—Switching (XX-18-48) ...

49 CFR 1242.66 - Administration (account XX-52-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Locomotive Fuel (XX-52-67) Servicing Locomotives (XX-52-69) Electric Power Purchased/Produced for Motive...

49 CFR 1242.55 - Administration (account XX-51-01).

Code of Federal Regulations, 2010 CFR

2010-10-01

... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses...) Electric Power Purchased/Produced for Motive Power (XX-51-68) Servicing Locomotives (XX-51-69) Clearing...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-locomotives (account XX-19-24... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to distribution of common expenses in the following accounts: Machinery Repair (XX-26-40) Locomotive—Repair and...

49 CFR 1242.79 - Communication systems operations (account XX-55-77).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Communication systems operations (account XX-55-77...-Transportation § 1242.79 Communication systems operations (account XX-55-77). Separate common expenses on bases of the percentages calculated for the separation of Communication Systems (account XX-19-20), § 1242...

49 CFR 1242.28 - Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38...

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Roadway machines, small tools and supplies, and snow removal (accounts XX-19-36 to XX-19-38, inclusive). 1242.28 Section 1242.28 Transportation Other... PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.28 Roadway machines, small...

Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells.

PubMed

Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-Ichirou

2017-02-02

SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells.

Differential lactate and cholesterol synthetic activities in XY and XX Sertoli cells

PubMed Central

Shishido, Yurina; Baba, Takashi; Sato, Tetsuya; Shima, Yuichi; Miyabayashi, Kanako; Inoue, Miki; Akiyama, Haruhiko; Kimura, Hiroshi; Kanai, Yoshiakira; Ishihara, Yasuhiro; Haraguchi, Shogo; Miyazaki, Akira; Rozman, Damjana; Yamazaki, Takeshi; Choi, Man-Ho; Ohkawa, Yasuyuki; Suyama, Mikita; Morohashi, Ken-ichirou

2017-01-01

SRY, a sex-determining gene, induces testis development in chromosomally female (XX) individuals. However, mouse XX Sertoli cells carrying Sry (XX/Sry Sertoli cells) are incapable of fully supporting germ cell development, even when the karyotype of the germ cells is XY. While it has therefore been assumed that XX/Sry Sertoli cells are not functionally equivalent to XY Sertoli cells, it has remained unclear which specific functions are affected. To elucidate the functional difference, we compared the gene expression of XY and XX/Sry Sertoli cells. Lactate and cholesterol metabolisms, essential for nursing the developing germ cells, were down-regulated in XX/Sry cells, which appears to be caused at least in part by the differential expression of histone modification enzymes SMCX/SMCY (H3K4me3 demethylase) and UTX/UTY (H3K27me3 demethylase) encoded by the sex chromosomes. We suggest that down-regulation of lactate and cholesterol metabolism that may be due to altered epigenetic modification affects the nursing functions of XX/Sry Sertoli cells. PMID:28150810

XX males SRY negative: a confirmed cause of infertility.

PubMed

Vetro, Annalisa; Ciccone, Roberto; Giorda, Roberto; Patricelli, Maria Grazia; Della Mina, Erika; Forlino, Antonella; Zuffardi, Orsetta

2011-10-01

SOX9 is a widely expressed transcription factor playing several relevant functions during development and essential for testes differentiation. It is considered to be the direct target gene of the protein encoded by SRY and its overexpression in an XX murine gonad can lead to male development in the absence of Sry. Recently, a family was reported with a 178 kb duplication in the gene desert region ending about 500 kb upstream of SOX9 in which 46,XY duplicated persons were completely normal and fertile whereas the 46,XX ones were males who came to clinical attention because of infertility. We report a family with two azoospermic brothers, both 46,XX, SRY negative, having a 96 kb triplication 500 kb upstream of SOX9. Both subjects have been analyzed trough oligonucleotide array-CGH and the triplication was confirmed and characterised through qPCR, defining the minimal region of amplification upstream of SOX9 associated with 46,XX infertile males, SRY negative. Our results confirm that even in absence of SRY, complete male differentiation may occur, possibly driven by overexpression of SOX9 in the gonadal ridge, as a consequence of the amplification of a gene desert region. We hypothesize that this region contains gonadal specific long-range regulation elements whose alteration may impair the normal sex development. Our data show that normal XX males, with alteration in copy number or, possibly, in the critical sequence upstream to SOX9 are a new category of infertility inherited in a dominant way with expression limited to the XX background.

Title XX and CETA. A Coordination Guide for Title XX Administrators.

ERIC Educational Resources Information Center

Urban Management Consultants of San Francisco, Inc., CA.

Written for the social service (Title XX) administrator at the State or sub-State level, this guide is intended to serve four major purposes: (1) Provide selected insights into what the Comprehensive Employment and Training Act (CETA) is and how it works; (2) point out potential areas for coordination which, from study or field experience, hold…

78 FR 15406 - Proposed Collection; Comment Request for Revenue Procedure 2013-XX

Federal Register 2010, 2011, 2012, 2013, 2014

2013-03-11

... Revenue Procedure 2013- XX AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice and request... comments concerning Revenue Procedure 2013-XX, Disaster Relief. DATES: Written comments should be received... . SUPPLEMENTARY INFORMATION: Title: Disaster Relief. OMB Number: 1545-2237. Form Number: Rev. Proc. 2013-XX...

Severe XIST hypomethylation clearly distinguishes (SRY+) 46,XX-maleness from Klinefelter syndrome.

PubMed

Poplinski, Andreas; Wieacker, Peter; Kliesch, Sabine; Gromoll, Jörg

2010-01-01

46,XX-maleness affects 1 in 20 000 live male newborns resulting in infertility and hypergonadotrophic hypogonadism. Although the phenotypes of XX-males have been well described, the molecular nature of the X chromosomes remains elusive. We assessed the X inactivation status by DNA methylation analysis of four informative loci and compared those to Klinefelter syndrome (KS) and Turner syndrome. Patient cohort consisted of ten sex-determining region of the Y (SRY+) XX-males, two (SRY-) XX-males, ten 47,XXY Klinefelter men, six 45,X Turner females and ten male and female control individuals each. Methylation analysis was carried out by bisulphite sequencing of DNA from peripheral blood lymphocytes analysing X-inactive-specific transcript (XIST), phosphoglycerate kinase 1 (PGK1), ferritin, heavy peptide-like 17 (FTHL17) and short stature homeobox (SHOX). XIST methylation was 18% in (SRY+) XX-males, and thus they were severely hypomethylated compared to (SRY-) XX-males (48%; P<0.01), Klinefelter men (44%; P<0.01) and female controls (47%; P<0.01). Turner females and male controls displayed a high degree of XIST methylation of 98 and 94% respectively. Methylation of PGK1, undergoing X inactivation, was not significantly reduced in (SRY+) XX-males compared to female controls in spite of severe XIST hypomethylation (51 vs 69%; P>0.05). FTHL17, escaping X inactivation, but undergoing cell-type-specific inactivation was similarly methylated in XX-males (89%), KS patients (87%) and female controls (90%). SHOX, an X inactivation escapee located in the pseudoautosomal region, displays similarly low degrees of methylation for XX-males (7%), KS patients (7%) and female controls (9%). XIST hypomethylation clearly distinguishes (SRY+) XX-males from Klinefelter men. It does not, however, impair appropriate epigenetic regulation of representative X-linked loci.

49 CFR 1242.26 - Miscellaneous building and structures (account XX-19-28).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Miscellaneous building and structures (account XX... XX-19-28). Separate common expenses as specific facts indicate or according to distribution of common expenses listed in § 1242.10, Administration-Track (account XX-19-02). ...

Genetics Home Reference: 46,XX testicular disorder of sex development

MedlinePlus

... of sex development 46,XX testicular disorder of sex development Printable PDF Open All Close All Enable ... collapse boxes. Description 46,XX testicular disorder of sex development is a condition in which individuals with ...

Two males with SRY-positive 46,XX testicular disorder of sex development.

PubMed

Gunes, Sezgin; Asci, Ramazan; Okten, Gülsen; Atac, Fatih; Onat, Onur E; Ogur, Gonul; Aydin, Oguz; Ozcelik, Tayfun; Bagci, Hasan

2013-02-01

The 46,XX testicular disorder of sex development (46,XX testicular DSD) is a rare phenotype associated with disorder of the sex chromosomes. We describe the clinical, molecular, and cytogenetic findings of a 16- and a 30-year-old male patient with sex-determining region Y (SRY)-positive 46,XX testicular DSD. Chromosomal analysis revealed 46,XX karyotype. Fluorescence in situ hybridization (FISH) showed the SRY region translocated to the short arm of the X chromosome. The presence of the SRY gene was also confirmed by polymerase chain reaction (PCR). The X chromosome inactivation (XCI) assay showed that both patients have a random pattern of X chromosome inactivation. This report compares the symptoms and features of the SRY-positive 46,XX testicular DSD patients.

Transient development of ovotestes in XX Sox9 transgenic mice.

PubMed

Gregoire, Elodie P; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R; Chaboissier, Marie-Christine

2011-01-01

The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9(Tg/+) gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads and is able to induce the expression of EGFP, knocked into the 3' UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX fetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. Copyright © 2010 Elsevier Inc. All rights reserved.

Transient development of ovotestes in XX Sox9 transgenic mice

PubMed Central

Gregoire, Elodie P.; Lavery, Rowena; Chassot, Anne-Amandine; Akiyama, Haruhiko; Treier, Mathias; Behringer, Richard R.; Chaboissier, Marie-Christine

2010-01-01

The sex of an individual results from the paternal transmission of the SRY gene located on the Y chromosome. In turn, SRY initiates Sox9 expression, a transcription factor required for testicular differentiation. Ectopic activation of SOX9 in XX Wt1:Sox9 transgenic mice, induces female-to-male sex reversal in adult mice. Here we show that complete sex reversal is preceded by a transient phase of ovotestis differentiation with XX Wt1:Sox9 transgenic gonads containing a testicular central region and one or both ovarian poles indicating that Wt1:Sox9 is not as efficient as Sry to induce male development. In XX Wt1:Sox9Tg/+ gonads, transgenic Sox9 is expressed earlier than Sox9 in XY gonads, and is able to induce the expression of EGFP, knocked into the 3′ UTR of Sox9 indicating that SOX9 is involved in the initiation and maintenance of its own expression. However, the delayed onset of expression of endogenous Sox9-EGFP suggests that this activation requires other factors, whose expression depends on SOX9. In the testicular regions of the XX Wt1:Sox9 ovotestes, proliferation of the XX foetal germ cells is hampered and they differentiate as pro-spermatogonia. This indicates that XX germ cells are not competent to respond to proliferative signals released from a testicular environment. In the ovarian regions, despite the continuous mRNA expression of the WT1:Sox9 transgene, the SOX9 protein does not accumulate suggesting that regulation of this gene in ovarian cells involves post-transcriptional mechanisms. Finally, ovarian cells of the XX Wt1:Sox9 ovotestis undergo apoptosis during late embryogenesis leading to complete female-to-male sex reversal of the transgenic mice at birth. PMID:20965161

Space Radar Image of Lisbon, Portugal

NASA Image and Video Library

1999-04-15

This radar image of Lisbon, Portugal illustrates the different land use patterns that are present in coastal Portugal. Lisbon, the national capital, lies on the north bank of the Rio Tejo where the river enters the Atlantic Ocean.

Postnatal outcomes of prenatally diagnosed 45,X/46,XX.

PubMed

Tokita, Mari J; Sybert, Virginia P

2016-05-01

High quality information is critical for informed decision-making in pregnancy following a prenatal diagnosis of sex chromosome aneuploidy. The goal of this study was to define the spectrum of outcomes in patients with prenatally diagnosed 45,X/46,XX mosaic Turner syndrome in order to provide a better basis for genetic counseling at the time of intrauterine diagnosis. Phenotype data for twenty-five patients with prenatally diagnosed 45,X/46,XX mosaicism were collected by retrospective chart review and, when possible, semi-structured telephone interview. Existing data from a cohort of 58 patients with postnatally diagnosed 45,X/46,XX mosaicism were used for comparison. Relative to those diagnosed postnatally, prenatal patients were more likely to have normal growth and normal secondary sexual development, less likely to manifest distinctive Turner syndrome features such as nuchal webbing and edema, and had significantly fewer renal defects. These differences underscore the need for a nuanced approach to prenatal counseling in cases of 45,X/46,XX mosaicism. © 2016 Wiley Periodicals, Inc.

Pocketguide to Title XX: Social Services to Children & Youth.

ERIC Educational Resources Information Center

Mueller, Candace

This brief guide to Title XX contains the following chapter headings: (1) Historical Overview of the Social Services Program, (2) The Provisions of Title XX at a Glance, (3) Implications for Services to Children and Youth, (4) The Planning Process, (5) Publication of the Proposed Plan and the Public Comment Period, (6) After the Final Plan is…

Optometry in Portugal: a historical perspective

NASA Astrophysics Data System (ADS)

Teixeira, Eduardo; Baptista, António M. G.; Sousa, Raul A. R. C.

2011-05-01

The establishment and development of optometry in Portugal resulted from the committed work of many individuals and institutions. These efforts have had good results in terms of raising the public's awareness of the major role played by optometrists in primary eye care. Back in the late 80's higher education in optometry was started. Ten years ago the results of scientific research on the topic first became available and are now also contributing to the success of optometry in Portugal. In regard to the optometry profession, specific regulations are to be discussed in the national parliament. The Associação de Profissionais Licenciados de Optometria (APLO), as the professional organization representing optometrists in Portugal, has been critically important in this process. This article will present an overview of the history of optometry in Portugal, of change in the foreseeable future and of the APLO's experience and activities.

Early Childhood Education in Portugal.

ERIC Educational Resources Information Center

Vasconcelos, Teresa

This booklet provides an overview of the policy and status of early childhood education in Portugal and includes the text of Law 5/97, the Framework Law for Pre-School Education, as well as the Curriculum Guidelines for Pre-School Education adopted by Portugal's government. Two of Law 5/97's nine main goals are: (1) to promote the child's personal…

49 CFR 1242.62 - Clearing wrecks (account XX-51-63).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-51-63). 1242.62 Section 1242.62 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.62 Clearing wrecks (account XX-51-63). Separate common expenses according to specific...

49 CFR 1242.86 - Industrial development (account XX-61-90).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Industrial development (account XX-61-90). 1242.86 Section 1242.86 Transportation Other Regulations Relating to Transportation (Continued) SURFACE....86 Industrial development (account XX-61-90). These accounts pertain solely to freight service and...

49 CFR 1242.69 - Clearing wrecks (account XX-52-63).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Clearing wrecks (account XX-52-63). 1242.69 Section 1242.69 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.69 Clearing wrecks (account XX-52-63). Separate common expenses according to specific...

XX model on the circle

NASA Astrophysics Data System (ADS)

de Pasquale, A.; Costantini, G.; Facchi, P.; Florio, G.; Pascazio, S.; Yuasa, K.

2008-07-01

We diagonalize the XX model with a finite number of spins and periodic boundary conditions. We solve for the ground state, focus on the rapidity of the convergence to the thermodynamic limit and study the features of multipartite entanglement.

49 CFR 1242.57 - Dispatching trains (account XX-51-58).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dispatching trains (account XX-51-58). 1242.57 Section 1242.57 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.57 Dispatching trains (account XX-51-58). Separate common expenses on the basis of train...

46,XX male disorder of sexual development:a case report.

PubMed

Anık, Ahmet; Çatlı, Gönül; Abacı, Ayhan; Böber, Ece

2013-01-01

The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.

Comprehensive Social Service Programs for Handicapped Citizens through Title XX.

ERIC Educational Resources Information Center

Roten, Shelby Jean

Reviewed are present and potential services and social programs for handicapped children in Mississippi through purchase of service contracts under Title XX of the Social Security Act. Sections cover the following topics: background and purpose of Title XX which gives states greater control over social service programs, planning state supported…

Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.

PubMed

Hipp, Lauren E; Mohnach, Lauren H; Wei, Sainan; Thomas, Inas H; Elhassan, Maha E; Sandberg, David E; Quint, Elisabeth H; Keegan, Catherine E

2016-01-01

Carriers of isodicentric Y (idicY) mosaicism exhibit a wide range of clinical features, including short stature, gonadal abnormalities, and external genital anomalies. However, the phenotypic spectrum for individuals carrying an idicY and a 46, XX cell line is less clearly defined. A more complete description of the phenotype related to idicY is thus essential to guide management related to pubertal development, fertility, and gonadoblastoma risk in mosaic carriers. Findings from the evaluation of twin females with an abnormal karyotype, 48, XX, +idic(Yq) x2/47, XX, +idic(Yq)/46, XX, are presented to highlight the importance of interdisciplinary care in the management of multifaceted disorders of sex development. © 2015 Wiley Periodicals, Inc.

49 CFR 1242.48 - Work and other non-revenue equipment (account XX-27-47).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Work and other non-revenue equipment (account XX... RAILROADS 1 Operating Expenses-Equipment § 1242.48 Work and other non-revenue equipment (account XX-27-47...—other (account XX-19-06). ...

49 CFR 1242.10 - Administration-track (account XX-19-02).

Code of Federal Regulations, 2011 CFR

2011-10-01

... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

49 CFR 1242.10 - Administration-track (account XX-19-02).

Code of Federal Regulations, 2010 CFR

2010-10-01

... accounts are separated between freight and passenger services: Roadway: Running (XX-17-10) Switching (XX-18-10) Ties: Running (21-17-13) Switching (21-18-13) Rails: Running (21-17-14) Switching (21-18-14) Other Track Materials: Running (21-17-15) Switching (21-18-15) Ballast: Running (21-17-16) Switching (21...

Title XX: Social Services in Your State. A Child Advocate's Handbook for Action.

ERIC Educational Resources Information Center

Children's Defense Fund, Washington, DC.

This booklet is a guide for those wishing to route Title XX money into the community programs for children. Part I discusses ways for child advocates to participate in four key stages of the Title XX planning process in their state: planning proposals, raising the 25% non-federal share of the funds required by Title XX, and publishing proposed and…

Lessons from wind policy in Portugal

DOE Office of Scientific and Technical Information (OSTI.GOV)

Peña, Ivonne; L. Azevedo, Inês; Marcelino Ferreira, Luís António Fialho

Wind capacity and generation grew rapidly in several European countries, such as Portugal. Wind power adoption in Portugal began in the early 2000s, incentivized by a continuous feed-in tariff policy mechanism, coupled with public tenders for connection licenses in 2001, 2002, and 2005. These policies led to an enormous success in terms of having a large share of renewables providing electricity services: wind alone accounts today for ~23.5% of electricity demand in Portugal. We explain the reasons wind power became a key part of Portugal's strategy to comply with European Commission climate and energy goals, and provide a detailed reviewmore » of the wind feed-in tariff mechanism. We describe the actors involved in wind power production growth. We estimate the environmental and energy dependency gains achieved through wind power generation, and highlight the correlation between wind electricity generation and electricity exports. Finally, we compare the Portuguese wind policies with others countries' policy designs and discuss the relevance of a feed-in tariff reform for subsequent wind power additions.« less

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

49 CFR 1242.22 - Shop buildings-locomotives (account XX-19-24).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-locomotives (account XX-19-24). 1242.22 Section 1242.22 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.22 Shop buildings—locomotives (account XX-19-24). Separate common expenses according to...

[Profile of tropical diseases in Portugal].

PubMed

Ventura, F A

1996-01-01

The increased incidence of Imported Tropical Diseases in Portugal is correlated to a recent higher standard of living, influence of media and a consequent expansion of tourism, and above all to the close relationship existing between Portugal and Africa. The number and pathology (parasitic diarrhoeas, protozoal and helminthic infections) of in-patients with Tropical Diseases at the Unidade de Doenças Infecciosas, Parasitárias e de Medicina Tropical (UDIP-MT) were described, with special emphasis on Malaria (155 in-patients during the period from 1989 to 1993) and on Sleeping Sickness, where Eflornitin (DFMO) was for the first time used in Portugal. Finally, the impact of HIV epidemic on incidence and different clinical presentations of parasitic and other tropical pathology was also evaluated.

Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus)

DOE Office of Scientific and Technical Information (OSTI.GOV)

Zhou, Linyan; Luo, Feng; Fang, Xuelian

Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Terminationmore » of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. - Highlights: • DHP plays a critical role in early stage oogenesis of XX tilapia. • Blockage of DHP actions by RU486 treatment led to masculinization and/or sex reversal in XX tilapia. • Both DHP and estrogen are indispensable for ovarian differentiation.« less

Prevalence of human papillomavirus infection in women in Portugal: the CLEOPATRE Portugal study.

PubMed

Pista, Angela; de Oliveira, Carlos Freire; Cunha, Maria João; Paixao, Maria Teresa; Real, Odete

2011-08-01

Human papillomavirus (HPV) is responsible for a range of diseases, including cervical cancer. The primary objectives of the CLEOPATRE Portugal study were to estimate the overall and age-stratified prevalence of cervical HPV infection and to assess HPV prevalence and type-specific distribution by cytological results among women aged 18 to 64 years, who reside in mainland Portugal. This cross-sectional population-based study recruited women aged 18 to 64 years, according to an age-stratified sampling strategy, who attended gynecology/obstetrics or sexually transmitted disease clinics across the 5 regional health administrations in mainland Portugal between 2008 and 2009. Liquid-based cytology samples were collected and analyzed centrally for HPV genotyping (clinical array HPV 2 assay) and cytology. Prevalence estimates were adjusted for age using 2007 Portuguese census data. A total of 2326 women were included in the study. The overall prevalence of HPV infection in the study was 19.4% (95% confidence interval, 17.8%-21.0%), with the highest prevalence in women aged 18 to 24 years. High-risk HPV types were detected in 76.5% of infections, of which 36.6% involved multiple types. The commonest high-risk type was HPV-16. At least 1 of the HPV types 6/11/16/18 was detected in 32.6% of infections. The HPV prevalence in normal cytology samples was 16.5%. There was a statistically significant association between high-risk infection and cytological abnormalities (P < 0.001). This is the first population-based study to quantify and describe cervical HPV infection in mainland Portugal. This study provides baseline data for future assessment of the impact of HPV vaccination programs.

49 CFR 1242.35 - Repair and maintenance (account XX-26-41).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Repair and maintenance (account XX-26-41). 1242.35...-Equipment § 1242.35 Repair and maintenance (account XX-26-41). (a) Where the carrier maintains records of... locomotive units or classes of locomotive units are used exclusively in road-freight, road-passenger, yard...

49 CFR 1242.19 - Electric power systems (account XX-19-21).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Electric power systems (account XX-19-21). 1242.19... OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Way and Structures § 1242.19 Electric power systems (account XX-19-21). Separate common expenses on basis of common...

75 FR 67165 - Proposed Collection; Comment Request for Revenue Procedure2007-XX (RP-155430-05)

Federal Register 2010, 2011, 2012, 2013, 2014

2010-11-01

... Revenue Procedure 2007- XX (RP-155430-05) AGENCY: Internal Revenue Service (IRS), Treasury. ACTION: Notice... soliciting comments concerning Revenue Procedure 2007-XX (RP-155430-05), Section 6707/6707A Accelerated... Procedure 2007-XX (RP-155430-05). Abstract: The collection of information this revenue procedure requires is...

One-Way Deficit and Quantum Phase Transitions in XX Model

NASA Astrophysics Data System (ADS)

Wang, Yao-Kun; Zhang, Yu-Ran

2018-02-01

Quantum correlations including entanglement and quantum discord have drawn much attention in characterizing quantum phase transitions. Quantum deficit originates in questions regarding work extraction from quantum systems coupled to a heat bath (Oppenheim et al. Phys. Rev. Lett. 89, 180402, 2002). It links quantum thermodynamics with quantum correlations and provides a new standpoint for understanding quantum non-locality. In this paper, we evaluate the one-way deficit of two adjacent spins in the bulk for the XX model. In the thermodynamic limit, the XX model undergoes a first order transition from fully polarized to a critical phase with quasi-long-range order with decrease of quantum parameter. We find that the one-way deficit becomes nonzero after the critical point. Therefore, the one-way deficit characterizes the quantum phase transition in the XX model.

Student Mobility in Portugal: Grappling with Adversity

ERIC Educational Resources Information Center

Sin, Cristina; Tavares, Orlanda; Neave, Guy

2017-01-01

The article examines how far the key Bologna objective of student mobility has been achieved in Portuguese higher education institutions and the main factors shaping it. It analyzes credit mobility, outgoing and incoming, between Portugal and Europe. Although mobility overall has risen, incoming mobility has grown faster, making Portugal an…

Development of the LSF95xx 2nd generation flexure bearing coolers

NASA Astrophysics Data System (ADS)

Mullie, J. C.; Bruins, P. C.; Benschop, T.; Meijers, M.

2005-05-01

Thales Cryogenics has been working on high reliability cryocoolers since 1997. During this period two cooler series have been developed, the LSF91xx series for cooling powers up to 3W at 80K and the LSF93xx series for cooling powers up to 8W at 80K. As a result of several design improvements, it was possible to decrease the length and mass of our flexure-bearing coolers. These improvements have been applied in the new LSF95xx series. With the length and mass reduction, the LSF95xx complies with the SADA II specification with respect to envelope and mass. Based on this, Thales Cryogenics is the first manufacturer offering a full flexure-bearing supported cooler that fits within the SADA II envelope. By using a moving magnet configuration in all our flexure-bearing coolers, the risk with respect to contamination problems due to out-gassing has been diminished because the coils are not part of the helium circuit. Furthermore, all connections in the LSF95xx are laser-welded, which means that there is no additional locking required inside the cooler. By using a different magnet design, no magnet segments have to be glued together, which decreases the risk of out-gassing and increases the reliability even more. This paper describes the trade-offs that have been considered in the design phase, and gives a detailed overview of the test results, the status of the qualification program and the resulting specification of the LSF95xx cooler series.

More than just numbers: Suicide rates and the economic cycle in Portugal (1910-2013).

PubMed

Dos Santos, João Pereira; Tavares, Mariana; Barros, Pedro Pita

2016-12-01

Suicides are a major concern for public health first and foremost because they are an avoidable cause of death. Moreover, they can be an indicator of self-reported emotional satisfaction and a good marker of overall well-being. In this study we examine how different economic and social aspects affected Portuguese suicide rates for more than one hundred years (1910-2013). We place this exercise in the specific historical context of the XX and early XXI century in Portugal, emphasizing the role of economic recessions and expansions. Controlling for aspects like wars, health care availability, political instability, and demographic changes, we find a strong association between a decline in the growth rate of real output and an increase in suicide rates for the whole population. In this regard, while male suicide rates are non-negligibly influenced by economic downturns, female suicide rates are in general more responsive to a more open political and economic environment. Our results are robust if we consider the mid-term cyclical relationship. Our findings advocate that, during recessions, public health responses should be seen as a crucial component of suicide prevention.

49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

49 CFR 1242.11 - Administration-bridges and buildings (account XX-19-03).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Administration-bridges and buildings (account XX... RAILROADS 1 Operating Expenses-Way and Structures § 1242.11 Administration—bridges and buildings (account XX-19-03). Separate common administration—bridges and buildings expenses between freight and passenger...

A comparative genomic hybridization study in a 46,XX male.

PubMed

Rigola, M Angels; Carrera, Marta; Ribas, Isabel; Egozcue, Josep; Miró, Rosa; Fuster, Carme

2002-07-01

To identify Y chromosome material in an azoospermic male with an XX karyotype. Case report. Faculty of medicine and Centro de Patologia Celular (CPC) medical center. A 33-year-old man with infertility. G-banding, fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR), and comparative genomic hybridization (CGH). FISH for X and Y chromosomes, PCR for the SRYgene and amelogenin gene in the Xp (AMGX) and (AMGY), and losses or gains with CGH. FISH analysis using X and Y chromosome-specific probes showed an X chromosome containing Y chromosome sequences on the top of the short arm; this Y chromosome region was not visible by conventional cytogenetic analysis. PCR amplification of DNA showed the presence of the sex-determining region of the Y chromosome (SRY) and the amelogenin gene in the pseudoautosomal boundary of the X chromosome (AMGX). CGH confirmed the presence of the chromosome region Yp11.2-pter and detected the presence of the two otherwise normal X chromosomes. The two Xpter (XPAR1) pseudoautosomal regions present in this XX male suggest the need to reevaluate XX males using CGH and PCR to characterize the clinical variability in XX males due to genes other than those located on the Y chromosome.

Child Labour and Educational Success in Portugal

ERIC Educational Resources Information Center

Goulart, Pedro; Bedi, Arjun S.

2008-01-01

The current debate on child labour focuses on developing countries. However, Portugal is an example of a relatively developed country where child labour is still a matter of concern as between 8% and 12% of Portuguese children may be classified as workers. This paper studies the patterns of child labour in Portugal and assesses the consequences of…

Population pharmacokinetics of ticagrelor and AR-C124910XX in patients with prior myocardial infarction
.

PubMed

Röshammar, Daniel; Bergstrand, Martin; Andersson, Tomas; Storey, Robert F; Hamrén, Bengt

2017-05-01

The population pharmacokinetics of ticagrelor and its active metabolite AR-C124910XX were characterized following ticagrelor 60 mg or 90 mg twice daily oral long-term treatment in 4,426 patients with a history of myocardial infarction. The ticagrelor and AR-C124910XX plasma concentration-time data were described by one-compartment models with first-order absorption or metabolite formation and elimination. Systemic exposure to ticagrelor and AR-C124910XX were stable over time. Ticagrelor apparent clearance (CL/F) was 17 L/h for the 60-mg and 15.4 L/h for the 90-mg dose. The CL/F of AR-C124910XX was 11.1 L/h for the 60-mg and 9.95 L/h for the 90-mg dose. Both ticagrelor and AR-C124910XX CL/F were independently influenced by body weight, sex, age, smoking, and Japanese ethnicity. Female sex and age > 75 years were the only categorical covariates, having more than 20% effect on AR-C124910XX CL/F. Ticagrelor CL/F was 6% higher and 11% lower, whereas AR-C124910XX CL/F was 26% higher and 34% lower for patients weighing 110 and 50 kg, respectively, compared with an 83 kg patient. The small differences in exposure to both ticagrelor and AR-C124910XX between demographic subgroups were in accordance with the consistent efficacy and safety outcomes observed across the population. The results were similar to those observed previously in patients with acute coronary syndromes.
.

49 CFR 1242.59 - Train inspection and lubrication (account XX-51-62).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Train inspection and lubrication (account XX-51-62). 1242.59 Section 1242.59 Transportation Other Regulations Relating to Transportation (Continued) SURFACE...-Transportation § 1242.59 Train inspection and lubrication (account XX-51-62). Separate common expenses on basis...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2013 CFR

2013-10-01

... 49 Transportation 9 2013-10-01 2013-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.24 - Shop buildings-other equipment (account XX-19-26).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-other equipment (account XX-19-26). 1242.24 Section 1242.24 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.24 Shop buildings—other equipment (account XX-19-26). Assign directly to freight (or as...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2011 CFR

2011-10-01

... 49 Transportation 9 2011-10-01 2011-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2014 CFR

2014-10-01

... 49 Transportation 9 2014-10-01 2014-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

49 CFR 1242.23 - Shop buildings-freight cars (account XX-13-25).

Code of Federal Regulations, 2012 CFR

2012-10-01

... 49 Transportation 9 2012-10-01 2012-10-01 false Shop buildings-freight cars (account XX-13-25). 1242.23 Section 1242.23 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.23 Shop buildings—freight cars (account XX-13-25). These accounts pertain solely to freight...

Primary osteomyelofibrosis and an XX-male genotype.

PubMed

Schanz, Julie; Haase, Detlef; Steuernagel, Peter; Shirneshan, Katayoo; Bäsecke, Jörg

2015-09-01

A 62-yr-old man with two healthy daughters was diagnosed with osteomyelofibrosis. To our surprise, a female XX-karyotype was observed in bone marrow and confirmed in PHA-stimulated T-lymphocytes from peripheral blood. Further molecular genetic investigation revealed a submicroscopic translocation between the short arm of X and Y, which leads to an XX-male genotype based on an unbalanced translocation X;Y. This rare coincidence was further accentuated as the USP9Y gene, suspected to be to be involved in sperm cell production, was absent, but no azoospermia was present. In general, routine cytogenetics may result in findings that need to be further delineated and, as here, lead to a rare observation. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Phytoplankton off the Coast of Portugal

NASA Technical Reports Server (NTRS)

2002-01-01

A large phytoplankton bloom off of the coast of Portugal can be seen in this true-color image taken on April 23, 2002, by the Moderate-resolution Imaging Spectroradiometer (MODIS) aboard NASA's Terra satellite. The bloom is roughly half the size of Portugal and forms a bluish-green cloud in the water. The red spots in northwest Spain denote what are likely small agricultural fires. Image courtesy Jacques Descloitres, MODIS Land Rapid Response Team at NASA GSFC

49 CFR 1242.21 - Station and office buildings (account XX-19-23).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Station and office buildings (account XX-19-23). 1242.21 Section 1242.21 Transportation Other Regulations Relating to Transportation (Continued) SURFACE... Structures § 1242.21 Station and office buildings (account XX-19-23). If the sum of the direct freight and...

Comparison of growth-related traits and gene expression profiles between the offspring of neomale (XX) and normal male (XY) rainbow trout.

PubMed

Kocmarek, Andrea L; Ferguson, Moira M; Danzmann, Roy G

2015-04-01

All-female lines of fish are created by crossing sex reversed (XX genotype) males with normal females. All-female lines avoid the deleterious phenotypic effects that are typical of precocious maturation in males. To determine whether all-female and mixed sex populations of rainbow trout (Oncorhynchus mykiss) differ in performance, we compared the growth and gene expression profiles in progeny groups produced by crossing a XX male and a XY male to the same five females. Body weight and length were measured in the resulting all-female (XX) and mixed sex (XX/XY) offspring groups. Microarray experiments with liver and white muscle were used to determine if the gene expression profiles of large and small XX offspring differ from those in large and small XX/XY offspring. We detected no significant differences in body length and weight between offspring groups but XX offspring were significantly less variable in the value of these traits. A large number of upregulated genes were shared between the large XX and large XX/XY offspring; the small XX and small XX/XY offspring also shared similar expression profiles. No GO category differences were seen in the liver or between the large XX and large XX/XY offspring in the muscle. The greatest differences between the small XX and small XX/XY offspring were in the genes assigned to the "small molecule metabolic process" and "cellular metabolic process" GO level 3 categories. Similarly, genes within these categories as well as the category "macromolecule metabolic process" were more highly expressed in small compared to large XX fish.

Excited state properties of naphtho-homologated xxDNA bases and effect of methanol solution, deoxyribose, and base pairing.

PubMed

Zhang, Laibin; Ren, Tingqi; Tian, Jianxiang; Yang, Xiuqin; Zhou, Liuzhu; Li, Xiaoming

2013-04-18

Design and synthesis of fluorescent nucleobase analogues for studying structures and dynamics of nucleic acids have attracted much attention in recent years. In the present work, a comprehensive theoretical study of electronic transitions of naphtho-homologated base analogues, namely, xxC, xxT, xxA, and xxG, was performed. The nature of the low-lying excited states was discussed, and the results were compared with those of x-bases. Geometrical characteristics of the lowest excited singlet ππ* states were explored using the CIS method. The calculated excitation maxima are 423, 397, 383, and 357 nm for xxA, xxG, xxC, and xxT, respectively, and they are greatly red-shifted compared with x-bases and natural bases, allowing them to be selectively excited in the presence of the natural bases. In the gas phase, the fluorescence from them would be expected to occur around 497, 461, 457, and 417 nm, respectively. The effects of methanol solution, deoxyribose, and base paring with their complementary natural bases on the relevant absorption and emission spectra of these modified bases were also examined.

Portugal to Accede to ESO

NASA Astrophysics Data System (ADS)

2000-06-01

The Republic of Portugal will become the ninth member state of the European Southern Observatory (ESO) [1]. Today, during a ceremony at the ESO Headquarters in Garching (Germany), a corresponding Agreement was signed by the Portuguese Minister of Science and Technology, José Mariano Gago and the ESO Director General, Catherine Cesarsky , in the presence of other high officials from Portugal and the ESO member states (see Video Clip 05/00 below). Following subsequent ratification by the Portuguese Parliament of the ESO Convention and the associated protocols [2], it is foreseen that Portugal will formally join this organisation on January 1, 2001. Uniting European Astronomy ESO PR Photo 16/00 ESO PR Photo 16/00 [Preview - JPEG: 400 x 405 pix - 160k] [Normal - JPEG: 800 x 809 pix - 408k] Caption : Signing of the Portugal-ESO Agreement on June 27, 2000, at the ESO Headquarters in Garching (Germany). At the table, the ESO Director General, Catherine Cesarsky , and the Portuguese Minister of Science and Technology, José Mariano Gago . In his speech, the Portuguese Minister of Science and Technology, José Mariano Gago , stated that "the accession of Portugal to ESO is the result of a joint effort by ESO and Portugal during the last ten years. It was made possible by the rapid Portuguese scientific development and by the growth and internationalisation of its scientific community." He continued: "Portugal is fully committed to European scientific and technological development. We will devote our best efforts to the success of ESO". Catherine Cesarsky , ESO Director General since 1999, warmly welcomed the Portuguese intention to join ESO. "With the accession of their country to ESO, Portuguese astronomers will have great opportunities for working on research programmes at the frontiers of modern astrophysics." "This is indeed a good time to join ESO", she added. "The four 8.2-m VLT Unit Telescopes with their many first-class instruments are nearly ready, and the VLT

Cytogenetic analysis of somatic and germinal cells from 38,XX/38,XY phenotypically normal boars.

PubMed

Barasc, Harmonie; Ferchaud, Stéphane; Mary, Nicolas; Cucchi, Marie Adélaïde; Lucena, Amalia Naranjo; Letron, Isabelle Raymond; Calgaro, Anne; Bonnet, Nathalie; Dudez, Anne Marie; Yerle, Martine; Ducos, Alain; Pinton, Alain

2014-01-15

Many chromosomal abnormalities have been reported to date in pigs. Most of them have been balanced structural rearrangements, especially reciprocal translocations. A few cases of XY/XX chimerism have also been diagnosed within the national systematic chromosomal control program of young purebred boars carried out in France. Until now, this kind of chromosomal abnormality has been mainly reported in intersex individuals. We investigated 38,XY/38,XX boars presenting apparently normal phenotypes to evaluate the potential effects of this particular chromosomal constitution on their reproductive performance. To do this, we analyzed (1) the chromosomal constitution of cells from different organs in one boar; (2) the aneuploidy rates for chromosomes X, Y, and 13 in sperm nuclei sampled from seven XY/XX boars. 2n = 38,XX cells were identified in different nonhematopoietic tissues including testis (frequency, <8%). Similar aneuploidy rates were observed in the sperm nuclei of XY/XX and normal individuals (controls). Altogether, these results suggest that the presence of XX cells had no or only a very limited effect on the reproduction abilities of the analyzed boars. Copyright © 2014 Elsevier Inc. All rights reserved.

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

PubMed

Lee, Gyung Min; Ko, Jung Min; Shin, Choong Ho; Yang, Sei Won

2014-06-01

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. The sex-determining region Y (SRY) gene can be identified in most 46,XX testicular DSD patients; however, approximately 20% of patients with 46,XX testicular DSD are SRY-negative. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans. Here, we report a 4.2-year-old SRY-negative 46,XX boy with complete sex reversal caused by SOX9 duplication for the first time in Korea. He showed normal external and internal male genitalia except for small testes. Fluorescence in situ hybridization and polymerase chain reaction (PCR) analyses failed to detect the presence of SRY, and SOX9 intragenic mutation was not identified by direct sequencing analysis. Therefore, we performed real-time PCR analyses with specific primer pairs, and duplication of the SOX9 gene was revealed. Although SRY-negative 46,XX testicular DSD is a rare condition, an effort to make an accurate diagnosis is important for the provision of proper genetic counseling and for guiding patients in their long-term management.

Post Fire Vegetation Recovery in Portugal

NASA Astrophysics Data System (ADS)

Gouveia, Celia; Bastos, Ana; DaCamara, Carlos; Trigo, Ricardo M.

2011-01-01

Fires in Portugal, as in the Mediterranean ecosystems, have a complex effect on vegetation regeneration due to the different responses of vegetation to the variety of fire regimes and to the complexity of landscape structures. A thorough evaluation of vegetation recovery after fire events becomes therefore crucial in land management. In 2005, Portugal suffered a strong damage from forest fires that damaged an area of 300 000 ha of forest and shrub. This year are particularly interesting because it is associated the severe drought of 2005. The aim of the present study is to identify large burnt scars in Portugal during the 2005 fire seasons and monitoring vegetation behaviour throughout the pre and the post fire periods. The mono-parametric model developed by Gouveia et al. (2010), based on monthly values of NDVI, at the 1km×1km spatial scale, as obtained from the VEGETATION-SPOT5 instrument, from 1999 to 2009, was used.

49 CFR 1242.41 - Other and casualties and insurance (accounts XX-26-99 and 50-26-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-26... RAILROADS 1 Operating Expenses-Equipment § 1242.41 Other and casualties and insurance (accounts XX-26-99 and... administration (account XX-26-01). freight cars ...

49 CFR 1242.65 - Other and casualties and insurance (accounts XX-51-99 and 50-51-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-51... RAILROADS 1 Operating Expenses-Transportation § 1242.65 Other and casualties and insurance (accounts XX-51... separation of administration (account XX-51-01). yard operations ...

Blockage of progestin physiology disrupts ovarian differentiation in XX Nile tilapia (Oreochromis niloticus).

PubMed

Zhou, Linyan; Luo, Feng; Fang, Xuelian; Charkraborty, Tapas; Wu, Limin; Wei, Jing; Wang, Deshou

2016-04-22

Previous studies indicated that maturation inducing hormone, 17α, 20β-Dihydroxy-4-pregnen-3-one (DHP), probably through nuclear progestin receptor (Pgr), might be involved in spermatogenesis and oogenesis in fish. To further elucidate DHP actions in teleostean ovarian differentiation, we analyzed the expression of pgr in the ovary of Nile tilapia (Oreochromis niloticus), and performed RU486 (a synthetic Pgr antagonist) treatment in XX fish from 5 days after hatching (dah) to 120 dah. Tilapia Pgr was abundantly expressed in the follicular cells surrounding oocytes at 30 and 90 dah. Continuous RU486 treatment led to the blockage of oogenesis and masculinization of somatic cells in XX fish. Termination of RU486 treatment and maintenance in normal condition resulted in testicular differentiation, and estrogen compensation in RU486-treated XX fish successfully restored oogenesis. In RU486-treated XX fish, transcript levels of female dominant genes were significantly reduced, while male-biased genes were evidently augmented. Meanwhile, both germ cell mitotic and meiotic markers were substantially reduced. Consistently, estrogen production levels were significantly declined in RU486-treated XX fish. Taken together, our data further proved that DHP, possibly through Pgr, might be essential in the ovarian differentiation and estrogen production in fish. Copyright © 2016 Elsevier Inc. All rights reserved.

Monitoring Services to Children: Title XX

ERIC Educational Resources Information Center

Black Child Development Institute

1977-01-01

The proliferation of State offices of child development and the advent of Social Security Title XX funds have been accompanied by confusion at every level of government and in the black community. The impact of these developments on availability of good day care for children is examined and recommendations are made. (Author/AM)

49 CFR 1242.45 - Passenger and other revenue equipment (account XX-27-45).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Passenger and other revenue equipment (account XX-27-45). 1242.45 Section 1242.45 Transportation Other Regulations Relating to Transportation... RAILROADS 1 Operating Expenses-Equipment § 1242.45 Passenger and other revenue equipment (account XX-27-45...

Estimating the prevalence of female genital mutilation in Portugal.

PubMed

Teixeira, A L; Lisboa, M

2016-10-01

Due to globalized migratory processes, female genital mutilation/cutting (FGM/C) has spread to other countries, including countries in Europe, where, with a few exceptions, it remains a concealed problem. To the authors' knowledge, this is the first national extensive study to estimate the prevalence of FGM/C in Portugal. Prevalence estimation. Using extrapolation of country-of-origin prevalence data and the 2011 Census data, this study estimated: the prevalence of FGM/C in Portugal among women of reproductive age (15-49 years) and among all women aged ≥15 years; and the number of girls aged <15 years living in Portugal who have undergone or will probably undergo FGM/C. It is estimated that 6576 women aged ≥15 years living in Portugal have undergone FGM/C, with cases distributed unevenly throughout the national territory. In addition, it is estimated that 1830 girls aged <15 years living in Portugal have undergone or are likely to undergo FGM/C. This study estimated that more than 6000 women living in Portugal have undergone FGM/C, and many girls remain at risk. These two groups need different types of interventions. Awareness of the number and geographical dispersion of cases of FGM/C will enable more informed and targeted definition of public health policies for protection of females who have undergone or are at risk of undergoing FGM/C. Copyright © 2016 The Royal Society for Public Health. Published by Elsevier Ltd. All rights reserved.

49 CFR 1242.54 - Other and casualties and insurance (accounts XX-27-99 and 50-27-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-27... RAILROADS 1 Operating Expenses-Equipment § 1242.54 Other and casualties and insurance (accounts XX-27-99 and... administration (account XX-27-01). Operating Expenses—Transportation train operations ...

49 CFR 1242.82 - Other and casualties and insurance (accounts XX-55-99 and 50-55-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-55... RAILROADS 1 Operating Expenses-Transportation § 1242.82 Other and casualties and insurance (accounts XX-55... separation of administration (account XX-55-01). Operating Expenses general and administration ...

49 CFR 1242.72 - Other and casualties and insurance (accounts XX-52-99 and 50-52-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Other and casualties and insurance (accounts XX-52... RAILROADS 1 Operating Expenses-Transportation § 1242.72 Other and casualties and insurance (accounts XX-52... separation of administration (account XX-52-01). train and yard operations common ...

The XX sex chromosome complement in mice is associated with increased spontaneous lupus compared with XY.

PubMed

Sasidhar, Manda V; Itoh, Noriko; Gold, Stefan M; Lawson, Gregory W; Voskuhl, Rhonda R

2012-08-01

Many autoimmune diseases are characterised by a female predominance. This may be caused by sex hormones, sex chromosomes or both. This report uses a transgenic mouse model to investigate how sex chromosome complement, not confounded by differences in gonadal type, might contribute to lupus pathogenesis. Transgenic NZM2328 mice were created by deletion of the Sry gene from the Y chromosome, thereby separating genetic from gonadal sex. Survival, renal histopathology and markers of immune activation were compared in mice carrying the XX versus the XY(-) sex chromosome complement, with each genotype being ovary bearing. Mice with XX sex chromosome complement compared with XY(-) exhibited poorer survival rates and increased kidney pathology. Splenic T lymphocytes from XX mice demonstrated upregulated X-linked CD40 ligand expression and higher levels of activation markers ex vivo. Increased MMP, TGF and IL-13 production was found, while IL-2 was lower in XX mice. An accumulation of splenic follicular B cells and peritoneal marginal zone B cells was observed, coupled with upregulated costimulatory marker expression on B cells in XX mice. These data show that the XX sex chromosome complement, compared with XY(-), is associated with accelerated spontaneous lupus.

Intergenerational private transfers: Portugal in the European context.

PubMed

Albuquerque, Paula C

2014-12-01

Intergenerational private transfers should be made important as a common occurrence in familialistic societies when establishing the identity of Southern European welfare state regimes. They function as a safety net and as a way of reinforcing the bonds amongst elements in a family. Although Portugal is undoubtedly a Southern European country, it is frequently ignored in comparative studies, and is assumed to share the characteristics of Spain and Italy. But do these countries really belong to a common, distinctive model? Portugal was included in the fourth wave of the survey of health, ageing and retirement in Europe, which provides a large sample for the study of intergenerational private transfers in this country. It also enables comparison with what happens elsewhere in Europe. We examine the upward and downward flows between generations and identify several important determinants of each type of transfers. Additionally, we show that the different types and directions of transfers are positively correlated, pointing to a self-reinforcement of transfer behaviour in families. We find that Portugal has an especially low probability of private transfers of time and money. After taking into consideration the household-level characteristics, none of the countries included in this study has a significantly lower probability of occurrence of any type of transfer than that of Portugal. A Southern European specific pattern of family transfers is only partially confirmed, yet Portugal and Spain do share the same model.

Increased HDL cholesterol levels in mice with XX versus XY sex chromosomes

PubMed Central

Link, Jenny C.; Chen, Xuqi; Prien, Christopher; Borja, Mark S.; Hammerson, Bradley; Oda, Michael N.; Arnold, Arthur P.; Reue, Karen

2015-01-01

Objective The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. Approach and Results We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the Four Core Genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male–female gonadal sex and XX–XY chromosome complement. Gonadectomy of adult mice revealed that the male–female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male–female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared to a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with two X chromosomes compared to mice with an X and Y chromosome. By generating mice with XX, XY and XXY chromosome complements, we determined that the presence of two X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. Conclusions We demonstrate that having two X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. PMID:26112012

Long-distance entanglement and quantum teleportation in XX spin chains

DOE Office of Scientific and Technical Information (OSTI.GOV)

Campos Venuti, L.; Giampaolo, S. M.; CNR-INFM Coherentia, Napoli

2007-11-15

Isotropic XX models of one-dimensional spin-1/2 chains are investigated with the aim to elucidate the formal structure and the physical properties that allow these systems to act as channels for long-distance, high-fidelity quantum teleportation. We introduce two types of models: (i) open, dimerized XX chains, and (ii) open XX chains with small end bonds. For both models we obtain the exact expressions for the end-to-end correlations and the scaling of the energy gap with the length of the chain. We determine the end-to-end concurrence and show that model (i) supports true long-distance entanglement at zero temperature, while model (ii) supportsmore » 'quasi-long-distance' entanglement that slowly falls off with the size of the chain. Due to the different scalings of the gaps, respectively exponential for model (i) and algebraic in model (ii), we demonstrate that the latter allows for efficient qubit teleportation with high fidelity in sufficiently long chains even at moderately low temperatures.« less

Increased high-density lipoprotein cholesterol levels in mice with XX versus XY sex chromosomes.

PubMed

Link, Jenny C; Chen, Xuqi; Prien, Christopher; Borja, Mark S; Hammerson, Bradley; Oda, Michael N; Arnold, Arthur P; Reue, Karen

2015-08-01

The molecular mechanisms underlying sex differences in dyslipidemia are poorly understood. We aimed to distinguish genetic and hormonal regulators of sex differences in plasma lipid levels. We assessed the role of gonadal hormones and sex chromosome complement on lipid levels using the four core genotypes mouse model (XX females, XX males, XY females, and XY males). In gonadally intact mice fed a chow diet, lipid levels were influenced by both male-female gonadal sex and XX-XY chromosome complement. Gonadectomy of adult mice revealed that the male-female differences are dependent on acute effects of gonadal hormones. In both intact and gonadectomized animals, XX mice had higher HDL cholesterol (HDL-C) levels than XY mice, regardless of male-female sex. Feeding a cholesterol-enriched diet produced distinct patterns of sex differences in lipid levels compared with a chow diet, revealing the interaction of gonadal and chromosomal sex with diet. Notably, under all dietary and gonadal conditions, HDL-C levels were higher in mice with 2 X chromosomes compared with mice with an X and Y chromosome. By generating mice with XX, XY, and XXY chromosome complements, we determined that the presence of 2 X chromosomes, and not the absence of the Y chromosome, influences HDL-C concentration. We demonstrate that having 2 X chromosomes versus an X and Y chromosome complement drives sex differences in HDL-C. It is conceivable that increased expression of genes escaping X-inactivation in XX mice regulates downstream processes to establish sexual dimorphism in plasma lipid levels. © 2015 American Heart Association, Inc.

49 CFR 1242.74 - Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and...

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Adjusting and transferring loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). 1242.74 Section 1242.74 Transportation Other... loads, and car loading devices and grain doors (accounts XX-33-71 and XX-33-72). These accounts pertain...

First Annual Report to Congress on Title XX of the Social Security Act.

ERIC Educational Resources Information Center

Department of Health, Education, and Welfare, Washington, DC.

This annual report to Congress on Title XX of the Social Security Act reports on the operation of the 1976 fiscal year program. Preceding the report are descriptive highlights of the program. Title XX of the Social Security Act changes the role and relationships of the Department of Health, Education, and Welfare; the individual states; and…

Gender reversal in 46XX congenital virilizing adrenal hyperplasia.

PubMed

Sripathi, V; Ahmed, S; Sakati, N; al-Ashwal, A

1997-05-01

To review the results of gender reversal in six patients with 46XX congenital virilizing adrenal hyperplasia (CVAH). Fifty-one patients with 46XX CVAH were seen in an 8 year period; 45 were managed by conventional feminizing genitoplasty, but six underwent gender reversal and were managed as males. The clinical decision for gender reversal was made after appropriate counselling and was based primarily on parental choice, this being influenced significantly by a delayed diagnosis in four patients. Surgical management consisted of gonadectomy, excision of Müllerian structures and staged hypospadias repair/ chordee correction in four patients, and circumcision in two completely masculinized children. All six boys are well adjusted to their gender of rearing, with ages ranging from 3 years to 16.5 years (mean 8.5) at the time of review. Two children have normal penises and four have a satisfactory result after two-stage repair of hypospadias/chordee. Most patients with 46XX CVAH are preferably raised as females and require a feminizing genitoplasty. However, the clinical decision may be influenced by many factors, including delay in diagnosis, social bias and the premium on male rearing in certain communities. When male rearing is chosen, early gonadectomy and excision of Müllerian structures, together with staged hypospadias repair, gives satisfactory results.

The first case of 38,XX (SRY-positive) disorder of sex development in a cat.

PubMed

Szczerbal, Izabela; Stachowiak, Monika; Dzimira, Stanislaw; Sliwa, Krystyna; Switonski, Marek

2015-01-01

SRY-positive XX testicular disorder of sex development (DSD) caused by X;Y translocations was not yet reported in domestic animals. In humans it is rarely diagnosed and a majority of clinical features resemble those which are typical for Klinefelter syndrome (KS). Here we describe the first case of SRY-positive XX DSD in a tortoiseshell cat with a rudimentary penis and a lack of scrotum. Molecular analysis showed the presence of two Y-linked genes (SRY and ZFY) and a normal sequence of the SRY gene. Application of classical cytogenetic techniques revealed two X chromosomes (38,XX), but further FISH studies with the use of the whole X chromosome painting probe and BAC probes specific to the Yp chromosome facilitated identification of Xp;Yp translocation. The SRY gene was localised at a distal position of Xp. The karyotype of the studied case was described as: 38,XX.ish der(X)t(X;Y)(p22;p12)(SRY+). Moreover, the X inactivation status assessed by a sequential R-banding and FISH with the SRY-specific probe showed a random inactivation of the derivative X(SRY) chromosome. Our study showed that among DSD tortoiseshell cats, apart from XXY trisomy and XX/XY chimerism, also SRY-positive XX cases may occur. It is hypothesized that the extremely rare occurrence of this abnormality in domestic animals, when compared with humans, may be associated with a different organisation of the Yp arm in these species.

Immigration and Supplementary Ethnic Schooling: Ukrainian Students in Portugal

ERIC Educational Resources Information Center

Tereshchenko, Antonina; Grau Cárdenas, Valeska Valentina

2013-01-01

Immigration from Eastern European countries to Portugal is a recent phenomenon. Within the last decade, economic migrants from Ukraine, Russia, Romania and Moldova set up a number of supplementary schools across the country. No academic attention has been given to the phenomenon of supplementary ethnic schools in Portugal, whilst there is a…

Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects.

PubMed

Grinspon, Romina P; Rey, Rodolfo A

2016-01-01

Virilisation of the XX foetus is the result of androgen excess, resulting most frequently from congenital adrenal hyperplasia in individuals with typical ovarian differentiation. In rare cases, 46,XX gonads may differentiate into testes, a condition known as 46,XX testicular disorders of sex development (DSD), or give rise to the coexistence of ovarian and testicular tissue, a condition known as 46,XX ovotesticular DSD. Testicular tissue differentiation may be due to the translocation of SRY to the X chromosome or an autosome. In the absence of SRY, overexpression of other pro-testis genes, e.g. SOX family genes, or failure of pro-ovarian/anti-testis genes, such as WNT4 and RSPO1, may underlie the development of testicular tissue. Recent experimental and clinical evidence giving insight into SRY-negative 46,XX testicular or ovotesticular DSD is discussed. © 2016 S. Karger AG, Basel.

A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis.

PubMed

Weinberg-Shukron, Ariella; Renbaum, Paul; Kalifa, Rachel; Zeligson, Sharon; Ben-Neriah, Ziva; Dreifuss, Amatzia; Abu-Rayyan, Amal; Maatuk, Noa; Fardian, Nilly; Rekler, Dina; Kanaan, Moien; Samson, Abraham O; Levy-Lahad, Ephrat; Gerlitz, Offer; Zangen, David

2015-11-02

Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism. Here, we report an extended consanguineous family of Palestinian origin, in which 4 females exhibited XX-GD. Using homozygosity mapping and whole-exome sequencing, we identified a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls. NUP107 is a component of the nuclear pore complex, and the NUP107-associated protein SEH1 is required for oogenesis in Drosophila. In Drosophila, Nup107 knockdown in somatic gonadal cells resulted in female sterility, whereas males were fully fertile. Transgenic rescue of Drosophila females bearing the Nup107D364N mutation, which corresponds to the human NUP107 (p.D447N), resulted in almost complete sterility, with a marked reduction in progeny, morphologically aberrant eggshells, and disintegrating egg chambers, indicating defective oogenesis. These results indicate a pivotal role for NUP107 in ovarian development and suggest that nucleoporin defects may play a role in milder and more common conditions such as premature ovarian failure.

XY females do better than the XX in the African pygmy mouse, Mus minutoides.

PubMed

Saunders, Paul A; Perez, Julie; Rahmoun, Massilva; Ronce, Ophélie; Crochet, Pierre-André; Veyrunes, Frédéric

2014-07-01

All therian mammals have a similar XY/XX sex-determination system except for a dozen species. The African pygmy mouse, Mus minutoides, harbors an unconventional system in which all males are XY, and there are three types of females: the usual XX but also XX* and X*Y ones (the asterisk designates a sex-reversal mutation on the X chromosome). The long-term evolution of such a system is a paradox, because X*Y females are expected to face high reproductive costs (e.g., meiotic disruption and loss of unviable YY embryos), which should prevent invasion and maintenance of a sex-reversal mutation. Hence, mechanisms for compensating for the costs could have evolved in M. minutoides. Data gathered from our laboratory colony revealed that X*Y females do compensate and even show enhanced reproductive performance in comparison to the XX and XX*; they produce significantly more offspring due to (i) a higher probability of breeding, (ii) an earlier first litter, and (iii) a larger litter size, linked to (iv) a greater ovulation rate. These findings confirm that rare conditions are needed for an atypical sex-determination mechanism to evolve in mammals, and provide valuable insight into understanding modifications of systems with highly heteromorphic sex chromosomes. © 2014 The Author(s). Evolution © 2014 The Society for the Study of Evolution.

[Demography and employment in Portugal].

PubMed

Barata, O S

1981-01-01

The population of Portugal showed a period of slow growth between 1950-60; however, in the 1970s, the return of large numbers of former residents in African territories along with a reduction in emigration changed the trend so that the 1981 census showed a significant increase. The Portuguese economy, on the other hand, is in a state of crisis which has resulted in large numbers of unemployed. The growth of the population along with these hard times has made it more difficult to reduce the rate of unemployment. It is also more difficult for those leaving school to find jobs. The better educated generations are seeking jobs in industry and in other services that Portugal will find difficult to offer in sufficient numbers in the immediate future. At present, the Portuguese economy has a large component of agricultural labor. In any case, the means of economic and social intervention to fight unemployment have limited potential. Therefore, many of those unable to find jobs in Portugal will attempt to emigrate. Many Portuguese are already working in Germany, France, and in other Western European countries but migration today is much more difficult. In addition, these countries cannot be expected to recive many more migrant workers in the future. In fact, those better educated workers from Portugal will not be very interested in the low paying jobs which can be found more easily by foreign workers in Western Euorpe. Many will therefore attempt to find jobs in non-European countries. There has been a recent increase of migration to Canada and the US. A renewal of interest in jobs in Brazil and other South Amerian countries is also to be expected. There may also be a future increase in the number of experts, technicians, and other qualified personnel emigrating to Portuguese speaking African countries if there is adequate security and if these countries find the way to expand economic growth. (author's modified)

[Analysis of clinical features and related genes variation in five patients with 46, XX male syndrome].

PubMed

Qin, X Y; Dong, W K; Wang, W; Dong, Z Y; Xiao, Y; Lu, W L; Wang, D F

2016-11-02

Objective: To explore the clinical manifestations and molecular features of 46, XX male syndrome. Method: The clinical and molecular data of five 46, XX male syndrome cases treated in the Department of Pediatrics of Shanghai Ruijin Hospital form August 2010 to August 2014 were retrospectively analyzed. Result: The five patients were all sociopsychologically males and came to hospital respectively for short stature, ambiguous genitalia or gynecomastia. They were all below the normal male's average height, and their karyotype was all 46, XX. One case in five was verified as sex determining region of Y chromosome (SRY gene) positive revealed no abnormality in their external genitalia. He had short stature since childhood, whose SRY gene fragments were shown by FISH transferred to the ends of X chromosome. Three cases in four were SRY gene negative with ambiguous genitalia of cryptorchidism and testicular dysplasia to different degrees. The copy number variations of SOX9 gene was found in one case, the loss of heterozygosity area in DHH gene of one case. Another SRY gene negative patient who had normal male external genitalia, came to the hospital due to puberty gynecomastia, that of SOX9 gene and its upstream gene both increased. Conclusion: The main clinical characteristics of 46, XX male syndrome are male phenotype, 46, XX karyotype, gonad of testis or ovotestis and no uterus. In addition, short stature, ambiguous genitalia or gynecomastia can be one reason for hospital visits. SRY gene translocation, SOX9 gene and its upstream gene copy number increase all can lead to 46, XX male syndrome. The cause of some may play an important role in 46, XX male syndrome, but has not yet been determined.

Coexistence of Trisomy 13 and SRY (-) XX Ovotesticular Disorder of Sex Development.

PubMed

Ürel Demir, Gizem; Doğan, Özlem Akgün; Şimşek Kiper, Pelin Özlem; Utine, Gülen Eda; Boduroğlu, Koray; Gucer, Safak; Alikaşifoğlu, Mehmet

2017-12-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both testicular and ovarian tissue in an individual and the majority of cases have been reported with 46,XX karyotype. In 46,XX cases, testicular differentiation may occur due to the translocation of SRY to the X chromosome or to an autosome. Herein, we present a female newborn with a combination of trisomy 13 and SRY (-) XX OT-DSD. Trisomy 13 is a relatively common and well-known chromosomal disorder in which disorders of sexual differentiation are not frequent. In the absence of SRY, overexpression of pro-testis genes, or decreased expression of pro-ovarian/anti-testis genes have been suggested as underlying mechanisms of testicular formation. The findings in this patient were suggestive of an underlying genomic disorder associated with FGF9 and/or SPRY2.

A Case With Short Stature, Growth Hormone Deficiency and 46, XX, Xq27-qter Deletion.

PubMed

Yıldırım, Şule; Topaloğlu, Naci; Tekin, Mustafa; Sılan, Fatma

2017-10-01

We report a case of 11-year-old girl with growth retardation and 46, XX, Xq27-qter deletion. The endocrinologic evaluation revealed growth hormone deficiency. In karyotype analysis  46, XX, Xq27-qter deletion was determined. The deletion of terminal region of chromosome 27 is most commonly being detected during the evaluation of infertility, premature ovarian insufficiency or in screening for fragile X carrier status. To our knowledge, this is the first reported case with 46, XX, Xq27-qter deletion and growth hormone deficiency. Furthermore, this case might facilitate future search for candidate genes involved in growth hormone deficiency.

Epidemiological review of Toxoplasma gondii infection in humans and animals in Portugal.

PubMed

Lopes, A P; Dubey, J P; Dardé, M-L; Cardoso, L

2014-11-01

Toxoplasmosis is a worldwide zoonosis. However, data from Portugal are limited and a considerable part of the literature is in Portuguese. Currently, the rate of congenital infection in Portugal is unknown, and almost nothing is known of sequelae of congenital toxoplasmosis. There is no recent general population-based serological survey of Toxoplasma gondii in humans in Portugal. In addition, there is little information on genetic characteristics of T. gondii in animals and humans. In the present paper, we review prevalence, clinical spectrum and epidemiology of T. gondii in humans and animals in Portugal. This knowledge should be useful to biologists, public health workers, physicians and veterinarians.

46 XX karyotype during male fertility evaluation; case series and literature review

PubMed Central

Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

2017-01-01

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients’ clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using “46 XX man” as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients’ mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption. PMID:27297128

46 XX karyotype during male fertility evaluation; case series and literature review.

PubMed

Majzoub, Ahmad; Arafa, Mohamed; Starks, Christopher; Elbardisi, Haitham; Al Said, Sami; Sabanegh, Edmund

2017-01-01

Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome.

PubMed

Manne, Sriharibabu; Veeraabhinav, C H; Jetti, Mounica; Himabindu, Yalamanchali; Donthu, Kiranmai; Badireddy, Mutyalarayudu

2016-01-01

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases.

Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens.

PubMed

Lathi, Ruth B; Gustin, Stephanie L F; Keller, Jennifer; Maisenbacher, Melissa K; Sigurjonsson, Styrmir; Tao, Rosina; Demko, Zach

2014-01-01

To examine the rate of maternal contamination in miscarriage specimens. Retrospective review of 1,222 miscarriage specimens submitted for chromosome testing with detection of maternal cell contamination (MCC). Referral centers requesting genetic testing of miscarriage specimens at a single reference laboratory. Women with pregnancy loss who desire complete chromosome analysis of the pregnancy tissue. Analysis of miscarriage specimens using single-nucleotide polymorphism (SNP) microarray technology with bioinformatics program to detect maternal cell contamination. Chromosome content of miscarriages and incidence of 46,XX results due to MCC. Of the 1,222 samples analyzed, 592 had numeric chromosomal abnormalities, and 630 were normal 46,XX or 46,XY (456 and 187, respectively). In 269 of the 46,XX specimens, MCC with no embryonic component was found. With the exclusion of maternal 46,XX results, the chromosomal abnormality rate increased from 48% to 62%, and the ratio for XX to XY results dropped from 2.6 to 1.0. Over half of the normal 46,XX results in miscarriage specimens were due to MCC. The use of SNPs in MCC testing allows for precise identification of chromosomal abnormalities in miscarriage as well as MCC, improving the accuracy of products of conception testing. Copyright © 2014 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

CFS Products

Science.gov Websites

vddsf.xx.YYYYMMDDHH.daily.grb2 Not Available CFS Near <em>IR> Diffuse Downward Solar Flux Filename Inventory Available CFS Near <em>IR> Diffuse Downward Solar Flux Filename Inventory nddsf.xx.YYYYMMDDHH.daily.grb2 6hrly Image of NCEP logo For questions related to this website, send mail to <em>Web> Manager. NCEP/NCO Production

Services to Status Offenders and Delinquents under Title XX.

ERIC Educational Resources Information Center

Nelson, Gary M.

1982-01-01

Found that states prohibiting institutionalization of status offenders and juvenile delinquents were no more likely to provide high levels of child foster care and protective services under Title XX than states not prohibiting institutionalization. (Author)

Molecular mechanisms associated with 46,XX disorders of sex development.

PubMed

Knarston, Ingrid; Ayers, Katie; Sinclair, Andrew

2016-03-01

In the female gonad, distinct signalling pathways activate ovarian differentiation while repressing the formation of testes. Human disorders of sex development (DSDs), such as 46,XX DSDs, can arise when this signalling is aberrant. Here we review the current understanding of the genetic mechanisms that control gonadal development, with particular emphasis on those that drive or inhibit ovarian differentiation. We discuss how disruption to these molecular pathways can lead to 46,XX disorders of ovarian development. Finally, we look at recently characterized novel genes and pathways that contribute and speculate how advances in technology will aid in further characterization of normal and disrupted human ovarian development. © 2016 Authors; published by Portland Press Limited.

A fiber-coupled 9xx module with tap water cooling

NASA Astrophysics Data System (ADS)

Schleuning, D.; Anthon, D.; Chryssis, A.; Ryu, G.; Liu, G.; Winhold, H.; Fan, L.; Xu, Z.; Tanbun-Ek, T.; Lehkonen, S.; Acklin, B.

2016-03-01

A novel, 9XX nm fiber-coupled module using arrays of highly reliable laser diode bars has been developed. The module is capable of multi-kW output power in a beam parameter product of 80 mm-mrad. The module incorporates a hard-soldered, isolated stack package compatible with tap-water cooling. Using extensive, accelerated multi-cell life-testing, with more than ten million device hours of test, we have demonstrated a MTTF for emitters of >500,000 hrs. In addition we have qualified the module in hard-pulse on-off cycling and stringent environmental tests. Finally we have demonstrated promising results for a next generation 9xx nm chip design currently in applications and qualification testing

Serological Evidence for Schmallenberg Virus Infection in Sheep of Portugal, 2014.

PubMed

Esteves, Fernando; Mesquita, João R; Vala, Helena; Abreu-Silva, Joana; van der Poel, Wim H M; Nascimento, Maria S J

2016-01-01

Between November and December of 2014, a serosurvey was set up to evaluate the presence of Schmallenberg virus (SBV) antibodies in sheep of Portugal. Sera (n = 1068) were tested using an indirect enzyme linked immunosorbent assay (ID Screen(®) Schmallenberg virus indirect, IDvet Innovative Diagnostics, Montpellier, France). The estimated occurrence of immunogobulin G (IgG) antibodies against SBV in sheep of Portugal was 12.8% (95% confidence interval 11.0-15.0%). This is the first study reporting the presence of SBV antibodies in sheep of Portugal.

Pediatric and neonatal transport in Spain, Portugal and Latin America.

PubMed

de la Mata, S; Escobar, M; Cabrerizo, M; Gómez, M; González, R; López-Herce Cid, J

2017-04-01

To study the organization of inter-hospital transport of pediatric and neonatal patients in Spain, Portugal and Latin America. An observational study was performed. An on-line survey was sent by email including questions about characteristics of national, regional and local health transport systems, vehicles, material, and composition of the transport team and their training. Hospital pediatric healthcare professionals treating children in Spain, Portugal and Latin America RESULTS: A total of 117 surveys from 15 countries were analyzed. Of them, 55 (47%) come from 15 regions of Spain and the rest from Portugal and 13 Latin American countries. The inter-hospital transport of pediatric patients is unified only in the Spanish regions of Baleares and Cataluña and in Portugal. Chile has a mixed unified transport system for pediatric and adult patients. Only 51.4% of responders have an educational program for the transport personnel, and only in 36.4% of them the educational program is specific for pediatric patients. In Spain and Portugal the transport is executed mostly by public entities, while in Latin America public and private systems coexist. Specific pediatric equipment is more frequent in the transport teams in the Iberian Peninsula than in Latin American teams. The specific pediatric transport training is less frequent for teams in Latin America than on Spain and Portugal. There is a great variation in the organization of children transport in each country and region. Most of countries and cities do not have unified and specific teams of pediatric transport, with pediatric qualified personnel and specific material. Copyright © 2016 Elsevier España, S.L.U. y SEMICYUC. All rights reserved.

Burden of burns in Portugal, 2000-2013: A clinical and economic analysis of 26,447 hospitalisations.

PubMed

Santos, João V; Oliveira, Andreia; Costa-Pereira, Altamiro; Amarante, José; Freitas, Alberto

2016-06-01

There is a lack of recent and nation-wide epidemiological studies of burns in Europe, mainly in southern Europe. There are no recent studies describing the clinical and economic burden of burns in this European area. Hence, this research aimed to describe the clinical and economic burden of burn hospitalisations in Portugal. A retrospective observational study was performed and the Portuguese hospitalisation database of public hospitals was used; all inpatients, discharged between 2000 and 2013, with a main or secondary diagnosis of burns (ICD-9-CM: 940.xx-949.xx) were taken into account. Furthermore, admissions to hospitals with and without burn centres were compared. A total of 26,447 burn hospitalisations were registered (mean of 1889burn admissions/year). The total hospitalisation rate was of 18.9hospitalisations/100,000inhabitants/year, and there was a higher incidence of male patients. Burn hospitalisations and hospitalisation rates are significantly decreasing - mostly in 0-14-year-old patients - and children below the age of 5 years represented a fifth of all admissions. Besides the important morbidity, the in-hospital mortality rate was of 4.4%. With a total annual charge of almost 13million Euros, the average cost per burn admission is increasing, and reached 8032Euros in 2013. Additionally, more than half of the patients admitted to hospitals without burn centres were not transferred to hospitals with burn centres, not following the European Burns Association transferral criteria. As the largest southern European nation-wide epidemiological study of burn patients, this research highlights that burn admissions, as well as hospitalisation rates, are decreasing significantly. This was particularly obvious among the youngest patients despite the fact that the numbers still remain very high. Moreover, the in-hospital mortality rate is still excessively high and the burn transferral criteria are not being followed. Thus, it is important to improve preventive

High temperature increases the masculinization rate of the all-female (XX) rainbow trout "Mal" population.

PubMed

Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

2014-01-01

Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species.

Ten cases with 46,XX testicular disorder of sex development: single center experience.

PubMed

Akinsal, Emre Can; Baydilli, Numan; Demirtas, Abdullah; Saatci, Cetin; Ekmekcioglu, Oguz

2017-01-01

To present clinical, chromosomal and hormonal features of ten cases with SRY-positive 46,XX testicular disorder of sex development who were admitted to our infertility clinic. Records of the cases who were admitted to our infertility clinic between 2004 and 2015 were investigated. Ten 46,XX testicular disorder of sex development cases were detected. Clinical, hormonal and chromosomal assessments were analized. Mean age at diagnosis was 30.4, mean body height was 166.9cm. Hormonal data indicated that the patients had a higher FSH, LH levels, lower TT level and normal E2, PRL levels. Karyotype analysis of all patients confirmed 46,XX karyotype, and FISH analysis showed that SRY gene was positive and translocated to Xp. The AZFa, AZFb and AZFc regions were absent in 8 cases. In one case AZFb and AZFc incomplete deletion and normal AZFa region was present. In the other one all AZF regions were present. Gonadal development disorders such as SRY-positive 46,XX testicular disorder of sex development can be diagnosed in infertility clinics during infertility workup. Although these cases had no chance of bearing a child, they should be protected from negative effects of testosterone deficiency by replacement therapies. Copyright® by the International Brazilian Journal of Urology.

76 FR 57767 - Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-09-16

... NUCLEAR REGULATORY COMMISSION [NRC-2011-0204] Proposed Generic Communication; Draft NRC Generic Letter 2011-XX: Seismic Risk Evaluations for Operating Reactors AGENCY: Nuclear Regulatory Commission... FR 54507), that requested public comment on Draft NRC Generic Letter 2011- XX: Seismic Risk...

Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.

PubMed

Öcal, Gönül; Berberoğlu, Merih; Sıklar, Zeynep; Aycan, Zehra; Hacıhamdioglu, Bülent; Savas Erdeve, Şenay; Çamtosun, Emine; Kocaay, Pınar; Ruhi, Hatice I; Kılıç, Birim G; Tukun, Ajlan

2015-02-01

The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort. The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD. Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness. 46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure. Copyright © 2015 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.

Modernising Portugal's Secondary Schools

ERIC Educational Resources Information Center

Heitor, Teresa V.

2008-01-01

Portugal has a total of 477 public secondary schools. Some date from the end of the 19th century but the majority were built after 1970, reflecting the period of expansion in the school network and the extension of compulsory schooling. The schools are heterogeneous in terms of building types, architectural features and quality. An assessment of…

Long term outcomes in 46, XX adult patients with congenital adrenal hyperplasia reared as males.

PubMed

Khattab, A; Yau, M; Qamar, A; Gangishetti, P; Barhen, A; Al-Malki, S; Mistry, H; Anthony, W; Toralles, M B; New, Maria I

2017-01-01

Patients with Congenital Adrenal Hyperplasia (CAH) owing to 21-hydroxylase deficiency and whose karyotype is 46, XX are usually assigned to the female gender. Reported herein are the long term outcomes in three patients with CAH whose karyotype is 46, XX and who were reared as males. A retrospective review of three CAH patients with a 46, XX karyotype who were reared as males was conducted. Gender assignment, clinical and biochemical data, pre and post-genitoplasty genital examinations were reviewed. Gender identity was tested by an extensive questionnaire. Gender role, sexual preference, marital status and sexual satisfaction were evaluated by interview. The three patients were genotyped for the CYP21A2 gene confirming the diagnosis of CAH. Owing to genital virilization, cultural preferences for male gender and the lack of newborn screening programs the three patients reported herein were assigned to the male gender at birth before the diagnosis of CAH was established. In adulthood the patients remained significantly virilized. Thorough psychosexual assessments in adulthood revealed well established male gender identities compatible with their male gender assignments at birth. In all three patients, gender role and behavior were consistent with male gender identity including sexual intercourse with female partners. The three patients reported herein revealed that male gender assignment to CAH patients with a 46, XX karyotype may have a successful outcome providing there is strong parental support and expert endocrine care. No standard guidelines have been published for the gender assignment of CAH patients with a 46, XX karyotype and genital ambiguity. More studies concerning gender assignment in CAH patients with a 46, XX karyotype reared as males are needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

XX male sex reversal with genital abnormalities associated with a de novo SOX3 gene duplication.

PubMed

Moalem, Sharon; Babul-Hirji, Riyana; Stavropolous, Dmitri J; Wherrett, Diane; Bägli, Darius J; Thomas, Paul; Chitayat, David

2012-07-01

Differentiation of the bipotential gonad into testis is initiated by the Y chromosome-linked gene SRY (Sex-determining Region Y) through upregulation of its autosomal direct target gene SOX9 (Sry-related HMG box-containing gene 9). Sequence and chromosome homology studies have shown that SRY most probably evolved from SOX3, which in humans is located at Xq27.1. Mutations causing SOX3 loss-of-function do not affect the sex determination in mice or humans. However, transgenic mouse studies have shown that ectopic expression of Sox3 in the bipotential gonad results in upregulation of Sox9, resulting in testicular induction and XX male sex reversal. However, the mechanism by which these rearrangements cause sex reversal and the frequency with which they are associated with disorders of sex development remains unclear. Rearrangements of the SOX3 locus were identified recently in three cases of human XX male sex reversal. We report on a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene. These data provide additional evidence that SOX3 gain-of-function in the XX bipotential gonad causes XX male sex reversal and further support the hypothesis that SOX3 is the evolutionary antecedent of SRY. Copyright © 2012 Wiley Periodicals, Inc.

8- to 13-micron spectroscopy of Comet Levy 1990 XX

NASA Technical Reports Server (NTRS)

Lynch, David K.; Russell, Ray W.; Hackwell, John A.; Hanner, Martha S.; Hammel, Heidi B.

1992-01-01

The results are reported of IR spectroscopy of Comet Levy 1990 XX over a three-day period when the comet was about 1.54 AU from the sun roughly 70 days before perihelion. Comet Levy 1990 XX was bright, and for at least part of its inbound journey toward perihelion, active. At a distance of 1.54 AU from the sun it showed strong structured silicate emission with peaks or shoulders at 9.8 and 11.2 microns. These features resemble those of Comets P/Halley and Bradfield 1987 XXIX. The comet was variable in brightness. Specifically, the contrast of the silicate features changed by a factor of two relative to the continuum level and showed some evidence for a shape change as well.

Geology and religion in Portugal

PubMed Central

Carneiro, Ana; Simoes, Ana; Diogo, Maria Paula; Mota, Teresa Salomé

2013-01-01

This paper addresses the relationship between geology and religion in Portugal by focusing on three case studies of naturalists who produced original research and lived in different historical periods, from the eighteenth to the twentieth century. Whereas in non-peripheral European countries religious themes and even controversies between science and religion were dealt with by scientists and discussed in scientific communities, in Portugal the absence of a debate between science and religion within scientific and intellectual circles is particularly striking. From the historiographic point of view, in a country such as Portugal, where Roman Catholicism is part of the religious and cultural tradition, the influence of religion in all aspects of life has been either taken for granted by those less familiar with the national context or dismissed by local intellectuals, who do not see it as relevant to science. The situation is more complex than these dichotomies, rendering the study of this question particularly appealing from the historiographic point of view, geology being by its very nature a well-suited point from which to approach the theme. We argue that there is a long tradition of independence between science and religion, agnosticism and even atheism among local elites. Especially from the eighteenth century onwards, they are usually portrayed as enlightened minds who struggled against religious and political obscurantism. Religion—or, to be more precise, the Roman Catholic Church and its institutions—was usually identified with backwardness, whereas science was seen as the path to progress; consequently men of science usually dissociated their scientific production from religious belief.

First autochthone case of sporotrichosis by Sporothrix globosa in Portugal.

PubMed

de Oliveira, Manoel Marques Evangelista; Veríssimo, Cristina; Sabino, Raquel; Aranha, João; Zancopé-Oliveira, Rosely Maria; Sampaio, Paula; Pais, Célia

2014-04-01

In this study, we characterize the first autochthone case of human sporotrichosis reported in Lisbon, Portugal. Phenotypic and genotypic characterization revealed that the infection was caused by Sporothrix globosa. We conclude that sporotrichosis may be underdiagnosed particularly in Southern Europe and suggest Portugal as an emerging area for this fungal infection. © 2014 Elsevier Inc. All rights reserved.

46,XX T testicular disorder of sex development. Case report.

PubMed

Pastor Guzmán, José María; Pastor Navarro, Hector; Quintanilla Mata, María Luisa; Carrión López, Pedro; Martínez Ruíz, Jesús; Martínez Sanchiz, Carlos; Perán Teruel, Miguel; Virseda Rodríguez, Julio Antonio

2011-06-01

We present a case of X-Y translocation with male phenotype (46,XX testicular disorder of sex development) and review the literature. Disorders of sex development with mismatch of genetic, gonadal and phenotypic sex are quite rare, and some are due to genetic or chromosomal abnormalities. The karyotype was investigated by a cytogenetic study of peripheral blood (phytohemagglutinin-timulated lymphocyte culture over 72 hours). G-banding analysis of 25 metaphases showed a 46,XX chromosome constitution (46 chromosomes with XX sexual composition). Fluorescence in situ hybridization (FISH) analysis with probes for X centromeres and the sex-determining region of the Y chromosome (SRY) (testis-determining factor gene) showed two X chromosomes. The analysis also showed the SRY signal in the telomeric region of the short arm of one of the chromosomes. In recent years, a number of other genes involved in disorders of sex development in animals and humans have also been identified. Genetic defects in the peptide hormone receptors, members of the steroid receptor superfamily, and other transcription factors, as well as any of a series of enzymes and cofactors involved in steroid biosynthesis can cause abnormal determination and differentiation. Although chromosomal abnormalities are rarely present in patients with apparently normal external genitalia, they should be considered in urology consultations by adolescents and adults, particularly in the investigation of gynecomastia or infertility.

High Temperature Increases the Masculinization Rate of the All-Female (XX) Rainbow Trout “Mal” Population

PubMed Central

Valdivia, Karina; Jouanno, Elodie; Volff, Jean-Nicolas; Galiana-Arnoux, Delphine; Guyomard, René; Helary, Louise; Mourot, Brigitte; Fostier, Alexis; Quillet, Edwige; Guiguen, Yann

2014-01-01

Salmonids are generally considered to have a robust genetic sex determination system with a simple male heterogamety (XX/XY). However, spontaneous masculinization of XX females has been found in a rainbow trout population of gynogenetic doubled haploid individuals. The analysis of this masculinization phenotype transmission supported the hypothesis of the involvement of a recessive mutation (termed mal). As temperature effect on sex differentiation has been reported in some salmonid species, in this study we investigated in detail the potential implication of temperature on masculinization in this XX mal-carrying population. Seven families issued from XX mal-carrying parents were exposed from the time of hatching to different rearing water temperatures ((8, 12 and 18°C), and the resulting sex-ratios were confirmed by histological analysis of both gonads. Our results demonstrate that masculinization rates are strongly increased (up to nearly two fold) at the highest temperature treatment (18°C). Interestingly, we also found clear differences between temperatures on the masculinization of the left versus the right gonads with the right gonad consistently more often masculinized than the left one at lower temperatures (8 and 12°C). However, the masculinization rate is also strongly dependent on the genetic background of the XX mal-carrying families. Thus, masculinization in XX mal-carrying rainbow trout is potentially triggered by an interaction between the temperature treatment and a complex genetic background potentially involving some part of the genetic sex differentiation regulatory cascade along with some minor sex-influencing loci. These results indicate that despite its rather strict genetic sex determinism system, rainbow trout sex differentiation can be modulated by temperature, as described in many other fish species. PMID:25501353

Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype.

PubMed

Ozsu, Elif; Mutlu, Gul Yesiltepe; Cizmecioglu, Filiz M; Ekingen, Gülsen; Muezzinoglu, Bahar; Hatun, Sukru

2013-01-01

Ovotesticular disorder of sexual development (DSD) is characterized by the presence of both ovarian and testicular tissues in the same individual. The most common karyotype is 46,XX. Here, we report the case of a boy with a 46,XX/47,XXY karyotype diagnosed as ovotesticular DSD by gonadal biopsy. A 5-month-old boy presented with hypospadias, unilateral cryptorchidism, and a micropenis. Pelvic magnetic resonance imaging revealed a suspicious gonad tissue that is solid in structure in the right scrotum and a suspicious gonad that is cystic in structure in the left inguinal canal. He underwent a diagnostic laparoscopy. Cytogenetic analysis of peripheral blood revealed a 46,XX/47,XXY karyotype. Histopathologic examination of the left gonad showed ovarian tissue containing primordial follicles with ipsilateral undifferentiated tuba uterina. The right gonad showed immature testis tissue. He underwent left gonadectomy and hypospadias repair, and was raised as a male. Through this rare case, we highlight the importance of histological and cytogenetic investigation in DSD.

Discordant sex in monozygotic XXY/XX twins: a case report.

PubMed

Tachon, G; Lefort, G; Puechberty, J; Schneider, A; Jeandel, C; Boulot, P; Prodhomme, O; Meyer, P; Taviaux, S; Touitou, I; Pellestor, F; Geneviève, D; Gatinois, V

2014-12-01

We report a case of discordant phenotypic sex in monozygotic twins mosaic 47,XXY/46,XX: monozygotic heterokaryotypic twins. The twins presented with cognitive and comprehension delay, behavioural and language disorders, all symptoms frequently reported in Klinefelter syndrome. Molecular zygosity analysis with several markers confirmed that the twins are in effect monozygotic (MZ). Array comparative genomic hybridization found no evidence for the implication of copy number variation in the phenotypes. Ultrasound scans of the reproductive organs revealed no abnormalities. Endocrine tests showed a low testosterone level in Twin 1 (male phenotype) and a low gonadotrophin level in Twin 2 (female phenotype) which, combined with the results from ultrasound examination, provided useful information for potentially predicting the future fertility potential of the twins. Blood karyotypes revealed the presence of a normal 46,XX cell line and an aneuploïd 47,XXY cell line in both patients. Examination of the chromosome constitutions of various tissues such as blood, buccal smear and urinary sediment not surprisingly showed different proportions for the 46,XX and 47,XXY cell lines, which most likely explains the discordant phenotypic sex and mild Klinefelter features. The most plausible underlying biological mechanism is a post-zygotic loss of the Y chromosome in an initially 47,XXY zygote. This would result in an embryo with both 46,XX and 47,XXY cells lines which could subsequently divide into two monozygotic embryos through a twinning process. The two cell lines would then be distributed differently between tissues which could result in phenotypic discordances in the twins. These observations emphasize the importance of regular paediatric evaluations to determine the optimal timing for fertility preservation measures and to detect new Klinefelter features which could appear throughout childhood in the two subjects. © The Author 2014. Published by Oxford University Press on

Portugal's Secondary School Modernisation Programme

ERIC Educational Resources Information Center

Heitor, Teresa V.; Freire da Silva, Jose M. R.

2009-01-01

The aim of the Secondary School Modernisation Programme, being implemented in Portugal by "Parque Escolar, EPE", is based on the pursuit of quality and makes Portuguese education a potential international benchmark. This paper discusses the strategies adopted to reorganise school spaces. It describes the conceptual model and highlights…

Multivariate statistical analysis of wildfires in Portugal

NASA Astrophysics Data System (ADS)

Costa, Ricardo; Caramelo, Liliana; Pereira, Mário

2013-04-01

Several studies demonstrate that wildfires in Portugal present high temporal and spatial variability as well as cluster behavior (Pereira et al., 2005, 2011). This study aims to contribute to the characterization of the fire regime in Portugal with the multivariate statistical analysis of the time series of number of fires and area burned in Portugal during the 1980 - 2009 period. The data used in the analysis is an extended version of the Rural Fire Portuguese Database (PRFD) (Pereira et al, 2011), provided by the National Forest Authority (Autoridade Florestal Nacional, AFN), the Portuguese Forest Service, which includes information for more than 500,000 fire records. There are many multiple advanced techniques for examining the relationships among multiple time series at the same time (e.g., canonical correlation analysis, principal components analysis, factor analysis, path analysis, multiple analyses of variance, clustering systems). This study compares and discusses the results obtained with these different techniques. Pereira, M.G., Trigo, R.M., DaCamara, C.C., Pereira, J.M.C., Leite, S.M., 2005: "Synoptic patterns associated with large summer forest fires in Portugal". Agricultural and Forest Meteorology. 129, 11-25. Pereira, M. G., Malamud, B. D., Trigo, R. M., and Alves, P. I.: The history and characteristics of the 1980-2005 Portuguese rural fire database, Nat. Hazards Earth Syst. Sci., 11, 3343-3358, doi:10.5194/nhess-11-3343-2011, 2011 This work is supported by European Union Funds (FEDER/COMPETE - Operational Competitiveness Programme) and by national funds (FCT - Portuguese Foundation for Science and Technology) under the project FCOMP-01-0124-FEDER-022692, the project FLAIR (PTDC/AAC-AMB/104702/2008) and the EU 7th Framework Program through FUME (contract number 243888).

Uncertainties in climate change projections for viticulture in Portugal

NASA Astrophysics Data System (ADS)

Fraga, Helder; Malheiro, Aureliano C.; Moutinho-Pereira, José; Pinto, Joaquim G.; Santos, João A.

2013-04-01

The assessment of climate change impacts on viticulture is often carried out using regional climate model (RCM) outputs. These studies rely on either multi-model ensembles or on single-model approaches. The RCM-ensembles account for uncertainties inherent to the different models. In this study, using a 16-RCM ensemble under the IPCC A1B scenario, the climate change signal (future minus recent-past, 2041-2070 - 1961-2000) of 4 bioclimatic indices (Huglin Index - HI, Dryness Index - DI, Hydrothermal Index - HyI and CompI - Composite Index) over mainland Portugal is analysed. A normalized interquartile range (NIQR) of the 16-member ensemble for each bioclimatic index is assessed in order to quantify the ensemble uncertainty. The results show significant increases in the HI index over most of Portugal, with higher values in Alentejo, Trás-os-Montes and Douro/Porto wine regions, also depicting very low uncertainty. Conversely, the decreases in the DI pattern throughout the country show large uncertainties, except in Minho (northwestern Portugal), where precipitation reaches the highest amounts in Portugal. The HyI shows significant decreases in northwestern Portugal, with relatively low uncertainty all across the country. The CompI depicts significant decreases over Alentejo and increases over Minho, though decreases over Alentejo reveal high uncertainty, while increases over Minho show low uncertainty. The assessment of the uncertainty in climate change projections is of great relevance for the wine industry. Quantifying this uncertainty is crucial, since different models may lead to quite different outcomes and may thereby be as crucial as climate change itself to the winemaking sector. This work is supported by European Union Funds (FEDER/COMPETE - Operational Competitiveness Programme) and by national funds (FCT - Portuguese Foundation for Science and Technology) under the project FCOMP-01-0124-FEDER-022692.

Structural fire risk of Portugal

NASA Astrophysics Data System (ADS)

Parente, Joana; Pereira, Mário

2017-04-01

Portugal is on the top of the European countries most affected by vegetation fires which underlines the importance of the existence of an updated and coherent fire risk map. This map represent a valuable supporting tool for forest and fire management decisions, focus prevention activities, improve the efficiency of fire detection systems, manage resources and actions of fire fighting with greater effectiveness. Therefore this study proposed a structural fire risk map of the vegetated area of Portugal using a deterministic approach based on the concept of fire risk currently accepted by the scientific community which consists in the combination of the fire hazard and the potential economic damage. The existing fire susceptibility map for Portugal based on the slope, land cover and fire probability, was adopted and updated by the use of a higher resolution digital terrain model, longer burnt area perimeter dataset (1975 - 2013) and the entire set of Corine land cover inventories. Five susceptibility classes were mapped to be in accordance with the Portuguese law and the results confirms the good performance of this model not only in terms of the favourability scores but also in the predictive values. Considering three different scenarios of (maximum, mean, and minimum annual) burnt area, fire hazard were estimate. The vulnerability scores and monetary values of species defined in the literature and by law were used to calculate the potential economic damage. The result was a fire risk map that identifies the areas more prone to be affected by fires in the future and provides an estimate of the economic damage of the fire which will be a valuable tool for forest and fire managers and to minimize the economic and environmental consequences of vegetation fires in Portugal. Acknowledgements: This work was supported by: (i) the project Interact - Integrative Research in Environment,Agro-Chain and Technology, NORTE-01-0145-FEDER-000017, research line BEST, cofinanced by

Students' Perceptions of Assessment: A Comparative Analysis between Portugal and Sweden

ERIC Educational Resources Information Center

Pereira, Diana; Niklasson, Laila; Flores, Maria Assunção

2017-01-01

This paper aims at investigating students' perceptions about assessment, especially the ways in which it is put into practice. Data were collected through questionnaires in different programmes in Portugal and Sweden. In total, 173 students from Portugal and 72 from Sweden participated in the study. Findings showed that students had similar ideas…

Population diversity of Theileria annulata in Portugal.

PubMed

Gomes, Jacinto; Salgueiro, Patrícia; Inácio, João; Amaro, Ana; Pinto, João; Tait, Andy; Shiels, Brian; Pereira da Fonseca, Isabel; Santos-Gomes, Gabriela; Weir, William

2016-08-01

The tick-borne protozoan parasite Theileria annulata causes tropical theileriosis, a severe disease of cattle that occurs across the Mediterranean littoral, the Middle East and Southern Asia. In the Mediterranean region, the disease has long been perceived as being a constraint to livestock production in North Africa and Turkey but was believed to have minimal impact in Southern European countries. It has recently been demonstrated that in Southern Portugal the prevalence of T. annulata is approximately 30%. While the population genetics of the parasite and the multiplicity of infection in the bovine host have been studied in a number of countries, no information is currently available on the composition of the parasite population in Southern Europe or its relationship to populations in bordering regions. A parasite genotyping system, based on micro- and mini-satellite amplification, was used to perform genetic analysis of T. annulata populations from T. annulata infected cattle in twelve farms in Southern Portugal. A diversity of genotypes and a high multiplicity of infection were found, suggesting that the parasite possesses a panmictic population in this region. In comparison with genotypes found in Tunisia and Turkey, parasites from Portugal form a genetically distinct group and show lower genetic diversity. Copyright © 2016 Elsevier B.V. All rights reserved.

Health professionals moving to... and from Portugal.

PubMed

Ribeiro, Joana Sousa; Conceição, Claudia; Pereira, Joel; Leone, Cláudia; Mendonça, Pedro; Temido, Marta; Vieira, Carlota Pacheco; Dussault, Gilles

2014-02-01

The mobility of health professionals in the European Union is a phenomenon which policy-makers must take into account to provide the conditions to adjust for demand and supply of health services. This paper presents the case of Portugal, a country which at the same time imports and exports health workers. Since the early 1990s Portugal became a destination country receiving foreign health care professionals. This situation is now changing with the current economic situation as fewer immigrants come and more Portuguese emigrate. Foreigners coming to Portugal do so in part for similar reasons that bring Portuguese to want to emigrate, mainly the search for better work conditions and professional development opportunities. The emigration of Portuguese health professionals is also stimulated by the difficulty for recently graduated nurses, dentists and diagnostic and therapeutic technicians to find employment, low salaries in the public and private sectors, heavy workloads, remuneration not related to performance and poor career prospects. The paradoxes described in this study illustrate the consequences of the absence of a policy for the health professions. Strategies based on evidence, and on an integrated information system that captures the dynamic evolution of the workforce in health are not only necessary but also a good investment. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.

PubMed

Igarashi, Maki; Takasawa, Kei; Hakoda, Akiko; Kanno, Junko; Takada, Shuji; Miyado, Mami; Baba, Takashi; Morohashi, Ken-Ichirou; Tajima, Toshihiro; Hata, Kenichiro; Nakabayashi, Kazuhiko; Matsubara, Yoichi; Sekido, Ryohei; Ogata, Tsutomu; Kashimada, Kenichi; Fukami, Maki

2017-01-01

The role of monogenic mutations in the development of 46,XX testicular/ovotesticular disorders of sex development (DSD) remains speculative. Although mutations in NR5A1 are known to cause 46,XY gonadal dysgenesis and 46,XX ovarian insufficiency, such mutations have not been implicated in testicular development of 46,XX gonads. Here, we identified identical NR5A1 mutations in two unrelated Japanese patients with 46,XX testicular/ovotesticular DSD. The p.Arg92Trp mutation was absent from the clinically normal mothers and from 200 unaffected Japanese individuals. In silico analyses scored p.Arg92Trp as probably pathogenic. In vitro assays demonstrated that compared with wild-type NR5A1, the mutant protein was less sensitive to NR0B1-induced suppression on the SOX9 enhancer element. Other sequence variants found in the patients were unlikely to be associated with the phenotype. The results raise the possibility that specific mutations in NR5A1 underlie testicular development in genetic females. © 2016 WILEY PERIODICALS, INC.

Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelter's syndrome.

PubMed

Werler, Steffi; Poplinski, Andreas; Gromoll, Jörg; Wistuba, Joachim

2011-06-01

We hypothesized that patients with Klinefelter's syndrome (KS) not only undergo X inactivation, but also that genes escape from inactivation. Their transcripts would constitute a significant difference, as male metabolism is not adapted to a 'female-like' gene dosage. We evaluated the expression of selected X-linked genes in our 41, XX(Y)* male mice to determine whether these genes escape inactivation and whether tissue-specific differences occur. Correct X inactivation was identified by Xist expression. Relative expression of X-linked genes was examined in liver, kidney and brain tissue by real-time PCR in adult XX(Y)* and XY* males and XX females. Expression of genes known to escape X inactivation was analysed. Relative mRNA levels of Pgk1 (control, X inactivated), and the genes Eif2s3x, Kdm5c, Ddx3x and Kdm6a escaping from X inactivation were quantified from liver, kidney and brain. Pgk1 mRNA expression showed no difference, confirming correct X inactivation. In kidney and liver, XX(Y)* males resembled the female expression pattern in all four candidate genes and were distinguishable from XY* males. Contrastingly, in brain tissue XX(Y)* males expressed all four genes higher than male and female controls. Altered expression of genes escaping X inactivation probably contributes directly to the XX(Y)* phenotype. © 2011 The Author(s)/Acta Paediatrica © 2011 Foundation Acta Paediatrica.

SU-E-T-472: Improvement of IMRT QA Passing Rate by Correcting Angular Dependence of MatriXX

DOE Office of Scientific and Technical Information (OSTI.GOV)

Chen, Q; Watkins, W; Kim, T

2015-06-15

Purpose: Multi-channel planar detector arrays utilized for IMRT-QA, such as the MatriXX, exhibit an incident-beam angular dependent response which can Result in false-positive gamma-based QA results, especially for helical tomotherapy plans which encompass the full range of beam angles. Although MatriXX can use with gantry angle sensor to provide automatically angular correction, this sensor does not work with tomotherapy. The purpose of the study is to reduce IMRT-QA false-positives by correcting for the MatriXX angular dependence. Methods: MatriXX angular dependence was characterized by comparing multiple fixed-angle irradiation measurements with corresponding TPS computed doses. For 81 Tomo-helical IMRT-QA measurements, two differentmore » correction schemes were tested: (1) A Monte-Carlo dose engine was used to compute MatriXX signal based on the angular-response curve. The computed signal was then compared with measurement. (2) Uncorrected computed signal was compared with measurements uniformly scaled to account for the average angular dependence. Three scaling factor (+2%, +2.5%, +3%) were tested. Results: The MatriXX response is 8% less than predicted for a PA beam even when the couch is fully accounted for. Without angular correction, only 67% of the cases pass the >90% points γ<1 (3%, 3mm). After full angular correction, 96% of the cases pass the criteria. Of three scaling factors, +2% gave the highest passing rate (89%), which is still less than the full angular correction method. With a stricter γ(2%,3mm) criteria, the full angular correction method was still able to achieve the 90% passing rate while the scaling method only gives 53% passing rate. Conclusion: Correction for the MatriXX angular dependence reduced the false-positives rate of our IMRT-QA process. It is necessary to correct for the angular dependence to achieve the IMRT passing criteria specified in TG129.« less

[Scientific Research Policy for Health in Portugal: II - Facts and Suggestions].

PubMed

Guerreiro, Cátia Sá; Hartz, Zulmira; Sambo, Luís; Conceição, Cláudia; Dussault, Gilles; Russo, Giuliano; Viveiros, Miguel; Silveira, Henrique; Pita Barros, Pedro; Ferrinho, Paulo

2017-03-31

After more than 40 years of democracy and 30 years of European integration, Portugal has bridged the research gap it had previously. However, when compared to global and European research policies, Portugal still has a long way go regarding investment in research and development. Health Research in Portugal has been managed by the Fundação para a Ciência e Tecnologia and the National Health Institute Doctor Ricardo Jorge, and it has not been a political priority, emphasized by the absence of a national scientific research plan for health, resulting in a weak coordination of actors in the field. The strategic guidelines of the 2004 - 2010 National Health Plan are what comes closest to a health research policy, but these were not implemented by the institutions responsible for scientific research for the health sector. Trusting that adopting a strategy of incentives to stimulate health research is an added-value for the Portuguese health system, the authors present five strategic proposals for research in health in Portugal.

Hydro-geomorphologic events in Portugal and its association with Circulation weather types

NASA Astrophysics Data System (ADS)

Pereira, Susana; Ramos, Alexandre M.; Rebelo, Luís; Trigo, Ricardo M.; Zêzere, José L.

2017-04-01

Floods and landslides correspond to the most hazardous weather driven natural disasters in Portugal. A recent improvement on their characterization has been achieved with the gathering of basic information on past floods and landslides that caused social consequences in Portugal for the period 1865-2015 through the DISASTER database (Zêzere et al., 2014). This database was built under the assumption that strong social impacts of floods and landslides are sufficient relevant to be reported consistently by national and regional newspapers. The DISASTER database contains detailed information on the location, date of occurrence and social impacts (fatalities, injuries, missing people, evacuated and homeless people) of each individual hydro-geomorphologic case (1677 flood cases and 292 landslide cases). These hydro-geomorphologic disaster cases are grouped in a restrict number of DISASTER events that were selected according to the following criteria: a set of at least 3 DISASTER cases sharing the same trigger in time (with no more than 3 days without cases), which have a widespread spatial extension related to the triggering mechanism and a certain magnitude. In total, the DISASTER database includes 134 events (3.7 average days of duration) that generated high social impacts in Portugal (962 fatalities and 40878 homeless people). Each DISASTER event was characterized with the following attributes: hydro-geomorphologic event type (e.g landslides, floods, flash floods, urban floods); date of occurrence (year, month and days); duration in days; spatial location in GIS; number of fatalities, injured, evacuated and homeless people; and weather type responsible for triggering the event. The atmospheric forcing at different time scales is the main trigger for the hydro-meteorological DISASTER events occurred in Portugal. In this regard there is an urge for a more systematic assessment of the weather types associated to flood and landslide damaging events to correctly

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice.

PubMed

Qin, Yangjun; Poirier, Christophe; Truong, Cavatina; Schumacher, Armin; Agoulnik, Alexander I; Bishop, Colin E

2003-03-01

We have previously reported a dominant mouse mutant, Odd sex (Ods), in which XX Ods/+ mice on the FVB/N background show complete sex reversal, associated with expression of Sox9 in the fetal gonads. Remarkably, when crossed to the A/J strain approximately 95% of the (AXFVB) F(1) XX Ods/+ mice developed as fully fertile, phenotypic females, the remainder developing as males or hermaphrodites. Using a (AXFVB) F(2) population, we conducted a genome-wide linkage scan to identify the number and chromosomal location of potential Ods modifier genes. A single major locus termed Odsm1 was mapped to chromosome 18, tightly linked to D18Mit189 and D18Mit210. Segregation at this locus could account for the presence of sex reversal in 100% of XX Ods/+ mice which develop as males, for the absence of sex reversal in approximately 92% of XX Ods/+ mice which develop as females, and for the mixed sexual phenotype in approximately 72% of XX Ods/+ mice that develop with ambiguous genitalia. We propose that homozygosity for the FVB-derived allele strongly favors Ods sex reversal, whereas homozygosity for the A/J-derived allele inhibits it. In mice heterozygous at Odsm1, the phenotypic outcome, male, female or hermaphrodite, is determined by a complex interaction of several minor modifying loci. The close proximity of Smad2, Smad7 and Smad4 to D18Mit189/210 provides a potential mechanism through which Odsm1 might act.

Using Title XX to Serve Children and Youth.

ERIC Educational Resources Information Center

Twiname, John D.; And Others

With the passage in early 1975 of the social service amendments to the Social Security Act, referred to as Title XX, a major new opportunity to serve children and youth has emerged. Seizing the opportunity will be largely dependent on the well-prepared presentation of a case for the needs of young people by dedicated advocates in every state.…

Tetracycline antibiotics in hospital and municipal wastewaters: a pilot study in Portugal.

PubMed

Pena, A; Paulo, M; Silva, L J G; Seifrtová, M; Lino, C M; Solich, P

2010-04-01

This study investigated the occurrence of tetracyclines (TCs), namely minocycline (MIN), TC, and its epimer epitetracycline (ETC), and doxycycline (DC), in four hospital wastewater effluents and its fate in municipal wastewater treatment plants (WWTPs), in Coimbra, Portugal. Analytical determination was carried out by solid-phase extraction followed by liquid chromatography with fluorescence detection. A gradient system with a mobile phase containing oxalic acid 0.02 M and acetonitrile was used. After postcolumn derivatization with magnesium reagent, TCs were detected at lambda(exc) 386 nm and lambda(em) 500 nm. The proposed method allowed good sensitivity, accuracy, and precision. LOQs were 0.5 microg l(-1) for ETC and TC and 15 and 5 microg l(-1) for MIN and DC, respectively. The recovery values ranged between 66.4% and 117.1%, and intraday and interday repeatability was lower than 6.8%. The method was successfully used to determine the presence of the above-mentioned TCs in 24 wastewater composite samples obtained from hospital effluents and from influent and effluent of the WWTP located in Coimbra, Portugal. MIN and TC were found in 41.7% of the samples; ETC and DC were found in 25% and 8.3% of the samples, respectively. The levels found ranged from 6 to 531.7 microg l(-1) in hospital effluents, while its concentrations in WWTP ranged from 95.8 to 915.3 microg l(-1). A seasonal influence in the concentrations found has also been observed, the levels found in samples collected during spring being higher than those observed in samples collected during autumn; however, these are only preliminary results. The WWTP removal rate ranged between 89.5% and 100%.

Sex steroid levels in XY males and sex-reversed XX males, of rainbow trout (Oncorhynchus mykiss), during the reproductive cycle.

PubMed

Espinosa, E; Josa, A; Gil, L; González, N

2011-02-01

In this study, the annual cycle of the gonadal steroids testosterone (T), 11-ketotestosterone (11-KT), 17β-oestradiol (E2) and 17α, 20β-dihydroxy-4-pregnen-3-one (DHP) was determined using radioimmunoassay and then compared, for XY males (n=35) and sex-reversed XX males (n=27) rainbow trout, to establish possible endocrinology differences. Both in XY males and sex-reversed XX males, significant correlation was shown between body weight and T (r=0.5046 and 0.34078, respectively; p<0.0001) or KT (r=0.52494 and 0.43545, respectively; p<0.0001) concentrations. Plasma androgen levels in XY and sex-reversed XX males were similar and showed an intense seasonal variation. The highest levels for T and 11-KT were detected from December to April with a peak in January (51.67 ± 5.11 and 61.95 ± 4.25 ng/ml, for XY males and 57.1 ± 5.82 and 59.27 ± 4.84 ng/ml, respectively, for XX males). In addition, there was a positive correlation (p<0.0001) between T and 11-KT levels for XY males (r=0.7533) and sex-reversed XX males (r=0.6019). Concentrations of DHP in XY males also showed seasonal variation with a peak in February (25.18 ± 12.99 ng/ml). However, DHP levels in sex-reversed XX males were undetectable (<0.1 ng/ml) over the year. Levels of E2 were undetectable through the year in both groups of trout. In conclusion, the androgenic and oestrogenic profiles of sex-reversed XX males were similar to those observed in XY males. The only difference in the annual gonadal steroid cycle between XY and sex-reversed XX males was in the DHP profile. © 2009 Blackwell Verlag GmbH.

Textiles and Training in Portugal.

ERIC Educational Resources Information Center

Andrez, Jaime Serrao; Dias, Mario Caldeira

Analyzing the role of vocational training in an economic sector that is declining in Portugal, this document consists of five chapters, a bibliography, and a list of training organizations. An introduction tells why the study is important and explains that the major obstacles to development of the Portuguese textile and clothing sector are the…

Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes.

PubMed

Salvemini, Marco; D'Amato, Rocco; Petrella, Valeria; Ippolito, Domenica; Ventre, Giuseppe; Zhang, Ying; Saccone, Giuseppe

2014-01-01

The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) anddifferential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function.

Subtractive and differential hybridization molecular analyses of Ceratitis capitata XX/XY versus XX embryos to search for male-specific early transcribed genes

PubMed Central

2014-01-01

The agricultural pest Ceratitis capitata, also known as the Mediterranean fruit fly or Medfly, is a fruit crop pest of very high economic relevance in different continents. The strategy to separate Ceratitis males from females (sexing) in mass rearing facilities is a useful step before the sterilization and release of male-only flies in Sterile Insect Technique control programs (SIT). The identification of genes having early embryonic male-specific expression, including Y-linked genes, such as the Maleness factor, could help to design novel and improved methods of sexing in combination with transgenesis, aiming to confer conditional female-specific lethality or female-to-male sexual reversal. We used a combination of Suppression Subtractive Hybrydization (SSH), Mirror Orientation Selection (MOS) and differential screening hybridization (DSH) techniques to approach the problem of isolating corresponding mRNAs expressed in XX/XY embryos versus XX-only embryos during a narrow developmental window (8-10 hours after egg laying, AEL ). Here we describe a novel strategy we have conceived to obtain relatively large amounts of XX-only embryos staged at 8-10 h AEL and so to extract few micrograms of polyA+ required to apply the complex technical procedure. The combination of these 3 techniques led to the identification of a Y-linked putative gene, CcGm2, sharing high sequence identity to a paralogous gene, CcGm1, localized either on an autosome or on the X chromosome. We propose that CcGm2 is a first interesting putative Y-linked gene which could play a role in sex determination. The function exterted by this gene should be investigated by novel genetic tools, such as CRISPR-CAS9, which will permit to target only the Y-linked paralogue, avoiding to interfere with the autosomal or X-linked paralogue function. PMID:25472628

29. Coke oven byproduct building "XX" with ammonia stills; powerhouse ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

29. Coke oven by-product building "XX" with ammonia stills; powerhouse with 8 sisters (stacks) in background; conveyor #20 (with break) on right, pulevrized coal storage bunker on left. Looking north/northwest - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

Epidemiological review of Toxoplasma gondii infection in humans and animals in Portugal

USDA-ARS?s Scientific Manuscript database

Toxoplasmosis is a worldwide zoonosis. However, data from Portugal are limited and a considerable part of the literature is in Portuguese. Currently, the rate of congenital infection in Portugal is unknown, and almost nothing is known of sequelae of congenital toxoplasmosis. There is no general popu...

Does 45,X/46,XX mosaicism with 6-28% of aneuploidy affect the outcomes of IVF or ICSI?

PubMed

Homer, L; Morel, F; Gallon, F; Le Martelot, M-T; Amice, V; Kerlan, V; De Braekeleer, M

2012-07-01

Several studies have shown an increased frequency of chromosomal aberrations in female partners of couples examined prior to intracytoplasmic sperm injection (ICSI). A retrospective cohort study was performed to determine whether 45,X/46,XX mosaicism affects the outcomes of in vitro fertilization (IVF) or ICSI. Forty-six women with a 45,X/46,XX karyotype with 6-28% of aneuploidy were compared with 59 control women (46,XX), matched for age, from the female population who underwent IVF or ICSI between 1 January 1996 and 31 December 2006 at the Reproductive Medicine Unit at Brest University Hospital. The outcomes of 254 treatment cycles were compared according to patient karyotype. No difference was found in the number of retrieved oocytes (8.9 ± 5.5 vs 8.5 ± 4.7; p=0.56) or the number of mature oocytes (7.4 ± 4.7 vs 6.9 ± 4.2; p=0.49) between the 45,X/46,XX group and the 46,XX group, respectively. Fertilization rates did not differ between the groups for either IVF or ICSI. In addition, no difference was found in the pregnancy rate by cycle (17.4% vs 18.7%, respectively; p=0.87). The percentage of first-trimester miscarriages was similar in both groups (13.6% vs 12.5%, respectively; p=0.51). 45,X/46,XX mosaicism with 6-28% of aneuploidy has no adverse effect on the outcomes of IVF or ICSI among women referred to assisted reproductive technologies. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

49 CFR 1242.51 - Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-27-39 and 62-27-00). 1242.51 Section 1242.51 Transportation Other Regulations Relating to... (accounts XX-27-39 and 62-27-00). Separate common expenses in proportion to the separation of common repair...

49 CFR 1242.37 - Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Dismantling retired property and depreciation (accounts XX-26-39 and 62-26-00). 1242.37 Section 1242.37 Transportation Other Regulations Relating to... (accounts XX-26-39 and 62-26-00). Separate common expenses in each account in proportion to the separation...

Distribution of Cryptosporidium subtypes in humans and domestic and wild ruminants in Portugal.

PubMed

Alves, Margarida; Xiao, Lihua; Antunes, Francisco; Matos, Olga

2006-08-01

To investigate the transmission of cryptosporidiosis in Portugal, Cryptosporidium hominis and Cryptosporidium parvum from HIV-infected patients, cattle, and wild ruminants were characterized by sequence analysis of the 60-kDa glycoprotein (GP60) gene. Fourteen subtypes within nine subtype families were identified, and three of the subtype families (If, IIb, and IId) were restricted or largely limited to Portugal. Parasites from cattle from various regions in Portugal and wild ruminants in Lisbon showed limited genetic heterogeneity (only two subtype families). All wild ruminants had the same subtype, which was also the predominant subtype in cattle all over Portugal and was found in nine HIV-infected patients in Lisbon. Two other C. parvum subtypes were only restricted to limited locations. In contrast, human parasites displayed 13 subtypes in nine subtype families, with most of the infections caused by parasites in Ib, IIa, IIc, and IId families. Two of the C. parvum subtype families (IIc and IIb) had only been found in humans. The high overall parasite diversity and high percentage of C. hominis infections attributable to Ib and C. parvum infections to IId represent unique characteristics of Cryptosporidium transmission in humans in Portugal.

A Comprehensive Child Development Program; Title XX, Final Report.

ERIC Educational Resources Information Center

Whatley, Juanita T.

This booklet describes the Comprehensive Child Day Care Program for the Atlanta Public School System, a Title XX Program. This program provided day care services for children of clients in various categories. The program goals for 1975-76 were geared toward providing comprehensive day care to encompass social services to the family and…

Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).

PubMed

Hyon, Capucine; Chantot-Bastaraud, Sandra; Harbuz, Radu; Bhouri, Rakia; Perrot, Nicolas; Peycelon, Matthieu; Sibony, Mathilde; Rojo, Sandra; Piguel, Xavier; Bilan, Frederic; Gilbert-Dussardier, Brigitte; Kitzis, Alain; McElreavey, Ken; Siffroi, Jean-Pierre; Bashamboo, Anu

2015-08-01

Disorders of Sex Development (DSD) are a heterogeneous group of disorders affecting gonad and/or genito-urinary tract development and usually the endocrine-reproductive system. A genetic diagnosis is made in only around 20% of these cases. The genetic causes of 46,XX-SRY negative testicular DSD as well as ovotesticular DSD are poorly defined. Duplications involving a region located ∼600 kb upstream of SOX9, a key gene in testis development, were reported in several cases of 46,XX DSD. Recent studies have narrowed this region down to a 78 kb interval that is duplicated or deleted respectively in 46,XX or 46,XY DSD. We identified three phenotypically normal patients presenting with azoospermia and 46,XX testicular DSD. Two brothers carried a 83.8 kb duplication located ∼600 kb upstream of SOX9 that overlapped with the previously reported rearrangements. This duplication refines the minimal region associated with 46,XX-SRY negative DSD to a 40.7-41.9 kb element located ∼600 kb upstream of SOX9. Predicted enhancer elements and evolutionary-conserved binding sites for proteins known to be involved in testis determination are located within this region. © 2015 Wiley Periodicals, Inc.

ANALYSIS AND CHARACTERIZATION OF OZONE-RICH EPISODES IN NORTHEAST PORTUGAL

NASA Astrophysics Data System (ADS)

Carvalho, A.; Monteiro, A.; Ribeiro, I.; Tchepel, O.; Miranda, A.; Borrego, C.; Saavedra, S.; Souto, J. A.; Casares, J. J.

2009-12-01

Each summer period extremely high ozone levels are registered at the rural background station of Lamas d’Olo, located in the Northeast of Portugal. In average, 30% of the total alert threshold registered in Portugal is detected at this site. The main purpose of this study is to characterize the atmospheric conditions that lead to the ozone-rich episodes. Synoptic patterns anomalies and back trajectories cluster analysis were performed for a period of 76 days where ozone maximum concentrations were above 200 µg.m-3. This analysis was performed for the period between 2004 and 2007. The obtained anomaly fields suggested that a positive temperature anomaly is visible above the Iberian Peninsula. In addition, a strong wind flow pattern from NE is visible in the North of Portugal and Galicia, in Spain. These two features may lead to an enhancement of the photochemical production and to the transport of pollutants from Spain to Portugal. In addition, the 3D mean back trajectories associated to the ozone episode days were analysed. A clustering method has been applied to the obtained back trajectories. Four main clusters of ozone-rich episodes were identified, with different frequencies of occurrence: north-westerly flows (11%); north-easterly flows (45%), southern flow (4%) and westerly flows (40%). Both analyses highlight the NE flow as a dominant pattern over the North of Portugal. The analysis of the ozone concentrations for each selected cluster indicates that this northeast circulation pattern, together with the southern flow, is responsible for the highest ozone peak episodes. This also suggests that long-range transport of atmospheric pollutants may be the main contributor to the ozone levels registered at Lamas d’Olo. This is also highlighted by the correlation of the ozone time series with the meteorological parameters analysed in the frequency domain.

30. XX byproducts building (containing coke gas compressors at north ...

Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

30. XX by-products building (containing coke gas compressors at north end, ammonia stills in south end), #20 coal conveyor jutting out of top on east side, continuing out west side to bunker. Looking south/southeast - Rouge Steel Company, 3001 Miller Road, Dearborn, MI

Assessing International Product Design and Development Graduate Courses: The MIT-Portugal Program

ERIC Educational Resources Information Center

Dori, Yehudit Judy; Silva, Arlindo

2010-01-01

The Product Design and Development (PDD) course is part of the graduate curriculum in the Engineering Design and Advanced Manufacturing (EDAM) study in the MIT-Portugal Program. The research participants included about 110 students from MIT, EDAM, and two universities in Portugal, Instituto Superior Técnico-Universidade Técnica de Lisboa (IST) and…

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.

PubMed

Chiang, Han-Sun; Wu, Yi-No; Wu, Chien-Chih; Hwang, Jiann-Loung

2013-02-01

XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gene was duplicated in that case compared to the normal female control and was significantly lower than that of the normal male control. No such genomic gain was observed in the case of the two SRY-positive 46,XX males. Similar to clinical manifestations of 46,XX male syndrome, genetic evidence in this study suggests that FGF9 may contribute to sex reversal, but additional confirmation with more cases is still needed. Copyright © 2012. Published by Elsevier B.V.

Gene expression profile during testicular development in patients with SRY-negative 46,XX testicular disorder of sex development.

PubMed

Mizuno, Kentaro; Kojima, Yoshiyuki; Kamisawa, Hideyuki; Moritoki, Yoshinobu; Nishio, Hidenori; Kohri, Kenjiro; Hayashi, Yutaro

2013-12-01

To elucidate alternative pathways in testicular development, we attempted to clarify the genetic characteristics of SRY-negative XX testes. We previously reported 5 cases of SRY-negative 46,XX testicular disorders of sex development and demonstrated that coordinated expression of genes such as SOX9, SOX3, and DAX1 was associated with testicular development. We performed a case-control study between the aforementioned boy with 46,XX testicular disorders of sex development and an age-matched patient with hydrocele testis (46,XY). During their consecutive surgeries, testicular biopsy specimens were obtained. Genes with differential expression compared with XY testis were identified using polymerase chain reaction (PCR)-based subtractive hybridization and sequencing. For validation of differential gene expression, real-time RT-PCR was performed using gene-specific primers. The distribution of candidate proteins in the testicular tissue was clarified by immunohistochemistry in human and rodent specimens. Moreover, in vitro inhibitory assays were performed. We identified 13 upregulated and 7 downregulated genes in XX testis. Among the candidate genes, we focused on ROCK1 (Rho-associated, coiled-coil protein kinase 1) in the upregulated gene group, because high expression in XX testis was validated by real-time RT-PCR. ROCK1 protein was detected in germ cells, Leydig cells, and Sertoli cells by immunohistochemistry. Moreover, the addition of specific ROCK1 inhibitor to Sertoli cells decreased SOX9 gene expression. On the basis of in vitro inhibitory assay, it is suggested that ROCK1 phosphorylates and activates SOX9 in Sertoli cells. Testes formation might be initiated by an alternative signaling pathway attributed to ROCK1, not SRY, activation in XX testes. Copyright © 2013 Elsevier Inc. All rights reserved.

Post-fire vegetation dynamics in Portugal

NASA Astrophysics Data System (ADS)

Gouveia, C.; Dacamara, C. C.; Trigo, R. M.

2009-04-01

The number of fires and the extent of the burned surface in Mediterranean Europe have increased significantly during the last three decades. This may be due either to modifications in land-use (e.g. land abandonment and fuel accumulation) or to climatic changes (e.g. reduction of fuel humidity), both factors leading to an increase of fire risk and fire spread. As in the Mediterranean ecosystems, fires in Portugal have an intricate effect on vegetation regeneration due to the complexity of landscape structures as well as to the different responses of vegetation to the variety of fire regimes. A thorough evaluation of vegetation recovery after fire events becomes therefore crucial in land management. In the above mentioned context remote sensing plays an important role because of its ability to monitor and characterise post-fire vegetation dynamics. A number of fire recovery studies, based on remote sensing, have been conducted in regions characterised by Mediterranean climates and the use of NDVI to monitor plant regeneration after fire events was successfully tested (Díaz-Delgado et al., 1998). In particular, several studies have shown that rapid regeneration occurs within the first 2 years after the fire occurrences, with distinct recovery rates according to the geographical facing of the slopes (Pausas and Vallejo, 1999). In 2003 Portugal was hit by the most devastating sequence of large fires, responsible by a total burnt area of 450 000 ha (including 280 000 ha of forest), representing about 5% of the Portuguese mainland (Trigo et al., 2006). The aim of the present work is to assess and monitor the vegetation behaviour over Portugal following the 2003 fire episodes. For this purpose we have used the regional fields of the Normalized Difference Vegetation Index (NDVI) as obtained from the VEGETATION-SPOT5 instrument, from 1999 to 2008. We developed a methodology to identify large burnt scars in Portugal for the 2003 fire season. The vegetation dynamics was then

Overrepresentation of the ACTN3 XX genotype in elite canoe and kayak paddlers.

PubMed

Orysiak, Joanna; Sitkowski, Dariusz; Zmijewski, Piotr; Malczewska-Lenczowska, Jadwiga; Cieszczyk, Pawel; Zembron-Lacny, Agnieszka; Pokrywka, Andrzej

2015-04-01

The aim of the study was to examine the association between the ACTN3 R577X polymorphism in canoe sprint athletes (canoe and kayak paddlers) and their results at 200- or 1000-m distance. Eighty-six European white male athletes divided into 2 groups-successful, who were outstanding at national championships, and nonsuccessful in these competitions-and 354 nonathletic controls were included in this study. The R577X polymorphism of ACTN3 was typed using PCR-RFLP. ACTN3 genotype distribution among all tested athletes and controls was in Hardy-Weinberg equilibrium. The odds ratio (OR) for successful 1000-m athletes harboring the XX genotype compared with sedentary controls was 2.95 (95% confidence interval [CI]: 1.37-6.35), but the OR for nonsuccessful 200-m athletes having the XX genotype compared with controls was 2.64 (95% CI: 1.30-5.36). These results suggest that factors associated with the ACTN3 XX genotype in canoe and kayak paddlers might provide some competitive advantage in performance at 1000 m, but it seems to limit at 200 m. Further studies aimed at development of training strategies based on genetic factors are needed.

The case of an Sry-negative XX male Pug with an inguinal gonad.

PubMed

Rota, A; Cucuzza, A Starvaggi; Iussich, S; Delorenzi, L; Parma, P

2010-08-01

A case of intersexuality in a Pug that was bought as a male in a pet shop is described. The dog was presented at the Veterinary Teaching Hospital, University of Turin, for a reddish mass protruding from the prepuce. The mass had the aspect of an enlarged clitoris, with a caudoventral direction and a dorsal urethral ostium. A gonad was palpable in the left inguinal region. Laparotomy confirmed ultrasound detection of an abdominal uterine structure together with the right gonad. The histology of both gonads was similar, showing an exclusively masculine character, with seminiferous tubules lined only by Sertoli cells; the uterus showed a normal histological structure. Karyological analysis revealed a female karyotype (78,XX), and polymerase chain reaction showed the absence of Sry. The diagnosis was an XX male. The pathogenesis of the XX sex reversal syndrome in dogs is not completely understood, as Sry, the master gene regulating testis differentiation, is not present; to date, no genetic cause has been identified for this phenotypic condition in dogs. This case is unusual because the dog showed an inguinal testis, implying a partial activity of the mechanisms leading to abdominal testis translocation along a gubernaculum and transinguinal migration.

Vocational Education and Training in Portugal.

ERIC Educational Resources Information Center

Grilo, E. Marcal

This document describes the vocational education and training system in Portugal, beginning in chapter 1 with the administrative, demographic, and economic background in which the training system exists. Chapter 2 provides a brief historical review of the development of the training systems; arrangements for initial training; and arrangements for…

Intersexuality associated with XX/XY mosaicism in a horned goat.

PubMed

Bongso, T A; Thavalingam, M; Mukherjee, T K

1982-01-01

Anatomical, histological, and cytogenetic studies were undertaken on a horned intersex goat kid and three of its normal litter mates. The intersex had male type horns, male beard, vestigial mammary glands, female external genitalia, and an enlarged peniform clitoris, exuded a pungent male odor, had a male bleat, and came into estrus every 20 days. At laparotomy and subsequent slaughter, an ovotestes was observed on the right side and a testis and epididymal remnants on the left side. Uterine horn segments, cervix, vagina, and enlarged clitoris (2 cm) were also present. Histologically, spermatogenesis was not observed in either testis, but active Leydig cells were present. The ovary contained mature follicles. Chromosome analysis revealed 60XX/60XY cell populations in blood, bone marrow, and skin. Lymphocytic metaphases from the male and female cosibs showed single populations of 60XY and 60XX, respectively. Mosaicism associated with the horned condition in the intersex goat was established.

[A case of 63,X/64,XX mosaicism in a subfertile pony mare].

PubMed

Pieńkowska-Schelling, A; Handler, J; Neuhauser, S; Schelling, C

2016-04-01

The present case report describes a 6-year old subfertile pony mare, which became pregnant after the eleventh artificial insemination. The examination of the ovaries and the uterus did not reveal any abnormal clinical findings and the mare showed a regular oestrous cycle. Based on cytogenetic and molecular genetic analyses it became possible to elucidate the observed subfertility. The mosaic karyotype of the mare consisted of 63,X (20%) and 64,XX (80%) cells. A PCR analysis failed to amplify sequences from the equine SRY gene. The observed classic 63,X/64,XX mosaicism is a plausible explanation for the subfertility of the mare.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris).

PubMed

Meyers-Wallen, Vicki N; Boyko, Adam R; Danko, Charles G; Grenier, Jennifer K; Mezey, Jason G; Hayward, Jessica J; Shannon, Laura M; Gao, Chuan; Shafquat, Afrah; Rice, Edward J; Pujar, Shashikant; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism.

XX Disorder of Sex Development is associated with an insertion on chromosome 9 and downregulation of RSPO1 in dogs (Canis lupus familiaris)

PubMed Central

Boyko, Adam R.; Grenier, Jennifer K.; Mezey, Jason G.; Hayward, Jessica J.; Shannon, Laura M.; Gao, Chuan; Shafquat, Afrah; Rice, Edward J.; Eggers, Stefanie; Ohnesorg, Thomas; Sinclair, Andrew H.

2017-01-01

Remarkable progress has been achieved in understanding the mechanisms controlling sex determination, yet the cause for many Disorders of Sex Development (DSD) remains unknown. Of particular interest is a rare XX DSD subtype in which individuals are negative for SRY, the testis determining factor on the Y chromosome, yet develop testes or ovotestes, and both of these phenotypes occur in the same family. This is a naturally occurring disorder in humans (Homo sapiens) and dogs (C. familiaris). Phenotypes in the canine XX DSD model are strikingly similar to those of the human XX DSD subtype. The purposes of this study were to identify 1) a variant associated with XX DSD in the canine model and 2) gene expression alterations in canine embryonic gonads that could be informative to causation. Using a genome wide association study (GWAS) and whole genome sequencing (WGS), we identified a variant on C. familiaris autosome 9 (CFA9) that is associated with XX DSD in the canine model and in affected purebred dogs. This is the first marker identified for inherited canine XX DSD. It lies upstream of SOX9 within the canine ortholog for the human disorder, which resides on 17q24. Inheritance of this variant indicates that XX DSD is a complex trait in which breed genetic background affects penetrance. Furthermore, the homozygous variant genotype is associated with embryonic lethality in at least one breed. Our analysis of gene expression studies (RNA-seq and PRO-seq) in embryonic gonads at risk of XX DSD from the canine model identified significant RSPO1 downregulation in comparison to XX controls, without significant upregulation of SOX9 or other known testis pathway genes. Based on these data, a novel mechanism is proposed in which molecular lesions acting upstream of RSPO1 induce epigenomic gonadal mosaicism. PMID:29053721

Implementation of the NEAMTWS in Portugal

NASA Astrophysics Data System (ADS)

Matias, L. M.; Annunziato, A.; Carrilho, F.; Baptista, M.

2008-12-01

In this paper we present the ongoing implementation of a national tsunami warning system in Portugal. After the Sumatra event in December 2004, the UNESCO, through its International Oceanographic Commission, recognized the need for an end to end global tsunami warning system and International Coordination Groups have been established for different areas around the globe: Indian, Caribbean, Atlantic and Mediterranean ocean basins. This system is the natural response to the historical and recent instrumental events generated along the western segment of the Eurasia and Nubian plates, which eastern end corresponds to the Gulf of Cadiz. The TWS includes three main components: the seismic detection, the tsunami detection and the issue of warnings/alerts. In Portugal the automatic earthquake processing is installed at IM (Instituto de Meteorologia) which is the only national institution operating on a 24x7 basis. This makes IM the natural candidate to host the Portuguese tsunami warning system. The TWS under implementation has several key points: definition of the tsunami scenarios, tsunami detection, and tsunami protocol messages. The system will also be able to predict tsunami potential impact along the coast, wave-heights and arrival times at pre-defined locations along the coast. In this study we present the recent results on definition of tsunami scenarios, establishment of the scenario database and the tsunami analysis tool. This work is a joint effort between Instituto de Meteorologia (Portugal), the Joint Research Center, JRC- ISPRA, Italy and the coordination of the Portuguese Group for the implementation of NEAMTWS in the area. This work has been financed by different European projects as NEAREST and TRANSFER, and also by the JRC, the IM and CGUL/IDL institutions.

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

PubMed

Haines, Bryan; Hughes, James; Corbett, Mark; Shaw, Marie; Innes, Josie; Patel, Leena; Gecz, Jozef; Clayton-Smith, Jill; Thomas, Paul

2015-05-01

46,XX male sex reversal occurs in approximately 1: 20 000 live births and is most commonly caused by interchromosomal translocations of the Y-linked sex-determining gene, SRY. Rearrangements of the closely related SOX3 gene on the X chromosome are also associated with 46,XX male sex reversal. It has been hypothesized that sex reversal in the latter is caused by ectopic expression of SOX3 in the developing urogenital ridge where it triggers male development by acting as an analog of SRY. However, altered regulation of SOX3 in individuals with XX male sex reversal has not been demonstrated. Here we report a boy with SRY-negative XX male sex reversal who was diagnosed at birth with a small phallus, mixed gonads, and borderline-normal T. Molecular characterization of the affected individual was performed using array comparative genomic hybridization, fluorescent in situ hybridization of metaphase chromosomes, whole-genome sequencing, and RT-PCR expression analysis of lymphoblast cell lines. The affected male carries ∼774-kb insertion translocation from chromosome 1 into a human-specific palindromic sequence 82 kb distal to SOX3. Importantly, robust SOX3 expression was identified in cells derived from the affected individual but not from control XX or XY cells, indicating that the translocation has a direct effect on SOX3 regulation. This is the first demonstration of altered SOX3 expression in an individual with XX male sex reversal and suggests that SOX3 can substitute for SRY to initiate male development in humans.

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

PubMed

Rossi, Elena; Radi, Orietta; De Lorenzi, Lisa; Vetro, Annalisa; Groppetti, Debora; Bigliardi, Enrico; Luvoni, Gaia Cecilia; Rota, Ada; Camerino, Giovanna; Zuffardi, Orsetta; Parma, Pietro

2014-01-01

Sexual development in mammals is based on a complicated and delicate network of genes and hormones that have to collaborate in a precise manner. The dark side of this pathway is represented by pathological conditions, wherein sexual development does not occur properly either in the XX and the XY background. Among them a conundrum is represented by the XX individuals with at least a partial testis differentiation even in absence of SRY. This particular condition is present in various mammals including the dog. Seven dogs characterized by XX karyotype, absence of SRY gene, and testicular tissue development were analysed by Array-CGH. In two cases the array-CGH analysis detected an interstitial heterozygous duplication of chromosome 9. The duplication contained the SOX9 coding region. In this work we provide for the first time a causative mutation for the XXSR condition in the dog. Moreover this report supports the idea that the dog represents a good animal model for the study of XXSR condition caused by abnormalities in the SOX9 locus.

Familial hypercholesterolaemia in Portugal.

PubMed

Bourbon, M; Alves, A C; Medeiros, A M; Silva, S; Soutar, A K

2008-02-01

Familial hypercholesterolaemia (FH) is characterised clinically by an increased level of circulating LDL cholesterol that leads to lipid accumulation in tendons and arteries, premature atherosclerosis and increased risk of coronary heart disease (CHD). Although Portugal should have about 20,000 cases, this disease is severely under-diagnosed in our country, this being the first presentation of Portuguese data on FH. A total of 602 blood samples were collected from 184 index patients and 418 relatives from several centres throughout Portugal. Fifty-three different mutations were found in 83 index patients, 79 heterozygous and 4 with two defective LDLR alleles. Additionally, 4 putative alterations were found in 8 patients but were not considered mutations causing disease, mainly because they did not co-segregate with hypercholesterolaemia in the families. Three unrelated patients were found to be heterozygous for the APOB(3500) mutation and two unrelated patients were found to be heterozygous for a novel mutation in PCSK9, predicted to cause a single amino acid substitution, D374H. Cascade screening increased the number of FH patients identified genetically to 204. The newly identified FH patients are now receiving counselling and treatment based on the genetic diagnosis. The early identification of FH patients can increase their life expectancy and quality of life by preventing the development of premature CHD if patients receive appropriate pharmacological treatment.

Co-circulation of a novel phlebovirus and Massilia virus in sandflies, Portugal.

PubMed

Amaro, Fátima; Zé-Zé, Líbia; Alves, Maria J; Börstler, Jessica; Clos, Joachim; Lorenzen, Stephan; Becker, Stefanie Christine; Schmidt-Chanasit, Jonas; Cadar, Daniel

2015-10-24

In Portugal, entomological surveys to detect phleboviruses in their natural vectors have not been performed so far. Thus, the aims of the present study were to detect, isolate and characterize phleboviruses in sandfly populations of Portugal. From May to October 2007-2008, 896 female sandflies were trapped in Arrábida region, located on the southwest coast of Portugal. Phlebovirus RNA was detected by using a pan-phlebovirus RT-PCR in 4 out of 34 Phlebotomus perniciosus pools. Direct sequencing of the amplicons showed that 2 samples exhibited 72 % nucleotide identity with Arbia virus, and two showed 96 % nucleotide identity with Massilia virus. The Arbia-like virus (named Alcube virus) was isolated in cell culture and complete genomic sequences of one Alcube and two Massila viruses were determined using next-generation sequencing technology. Phylogenetic analysis demonstrated that Alcube virus clustered with members of the Salehabad virus species complex. Within this clade, Alcube virus forms a monophyletic lineage with the Arbia, Salehabad and Adana viruses sharing a common ancestor. Arbia virus has been identified as the most closely related virus with 20-28 % nucleotide and 10-27 % amino acid divergences depending on the analysed segment. We have provided genetic evidence for the circulation of a novel phlebovirus species named Alcube virus in Ph. perniciosus and co-circulation of Massilia virus, in Arrábida region, southwest of Portugal. Further epidemiological investigations and surveillance for sandfly-borne phleboviruses in Portugal are needed to elucidate their medical importance.

Governance in Educational Institutions in Portugal

ERIC Educational Resources Information Center

García Redondo, Eva

2016-01-01

The present study addresses the governance processes governing the organization and management of educational institutions in Portugal, in a context of analysis in which the educational reforms carried out in this country, from the early nineteenth century (when school responsibility is assumed exclusively by the State) to the present, play what…

46, XX true hermaphroditism associated with a terminal deletion of the short arm of the X chromosome

DOE Office of Scientific and Technical Information (OSTI.GOV)

Barbaux, S.; Vilain, E.; McElreavey, K.

1994-09-01

Testes are determined by the activity of the SRY gene product encoded by the Y chromosome. Mutations in SRY can lead to XY sex reversal (XY females) and the presence of the SRY gene in some XX individuals can lead either to complete (XX males) or incomplete (XX true hermaphrodites) sex reversal. Approximately 10% of XX true hermaphrodites contain a portion of the Y chromosome, including SRY, in their genome. The etiology of the remaining cases is unestablished but may be caused by mutations in other as yet unidentied sex determining genes downstream of SRY. Here we describe an SRY-negativemore » true hermaphrodite with a 46,X,del(X)(p21.1-pter). The patient also presented with severe mental retardation, abnormal skin pigmentation and below average height. Histological examination of the gonad revealed bilateral ovotestis. We postulate that the Xp deletion has unmasked a recessive allele on the apparently normal X chromosome generating the intersex phenotype. This observation together with recent findings of certain XY females carrying duplications of Xp21.3 suggests that there may be a loci on Xp which acts as a switch in the testis/ovarian determination pathways.« less

Incidence, prevalence, diagnostic delay, morbidity, mortality and socioeconomic status in males with 46,XX disorders of sex development: a nationwide study.

PubMed

Berglund, A; Johannsen, T H; Stochholm, K; Aksglaede, L; Fedder, J; Viuff, M H; Main, K M; Gravholt, C H

2017-08-01

What is the epidemiology and trajectory of health and socioeconomic status in males with 46,XX disorders of sex development (DSD)? 46,XX DSD males had an increased overall morbidity compared to male background population controls, and the socioeconomic status was inferior on outcome parameters such as education and long-term income. 46,XX DSD males are rare and estimates of prevalence and incidence are limited. An increased morbidity and mortality as well as a negatively affected socioeconomic status are described in males with Klinefelter Syndrome. However, this has never been systematically studied in 46,XX DSD males. In this nationwide registry study including 44 males with a verified diagnosis of 46,XX DSD we aimed to estimate incidence, prevalence and diagnostic delay. Further, we aimed to study morbidity, mortality and socioeconomic outcome parameters using the Danish registries. The socioeconomic outcome parameters were education, income, retirement, parenthood and cohabitation. 46,XX DSD males were born during 1908-2012 and follow-up started at birth or at start of registration and ended in 2014. Potential cases (n = 69) were identified in the Danish Cytogenetic Central Registry and the diagnosis was verified by medical record evaluation (n = 44). A randomly selected age-matched control group of 100 males and 100 females per case was identified by Statistics Denmark. Among newborn males the prevalence of diagnosed 46,XX DSD males was 3.5-4.7 per 100 000. Median age at diagnosis was 17.0 years (range: 0.0-62.8). Overall morbidity was increased compared to male controls (hazard ratio [HR] = 2.4, 95% CI: 1.8-3.3) but not when excluding endocrine and urogenital diseases as well as congenital malformations (HR = 1.2, 95% CI: 0.8-1.6). Mortality was not increased (HR = 0.6, 95% CI: 0.2-2.5) compared to male controls. 46,XX DSD males had poorer education (HR = 0.1, 95% CI: 0.0-0.9) and fewer fatherhoods (HR = 0.4, 95% CI: 0.2-0.7) than male controls

Viticultural zoning in Portugal: current conditions and future scenarios

NASA Astrophysics Data System (ADS)

Fraga, H.; Santos, J. A.; Malheiro, A. C.; Moutinho-Pereira, J.

2012-04-01

Viticulture and wine production represent a main economic activity of the agro-production sector in Portugal, particularly over some world famous winemaking regions, such as the Port Wine / Douro Valley, Minho and Alentejo. As viticultural zoning provides valuable information regarding the suitability of a given grapevine variety to local climatic conditions, it is thus of great interest to the Portuguese winemaking sector. Furthermore, projected future climates are also likely to have important impacts on this zoning. Therefore, in the current study we aim at 1) discussing the current viticultural zoning in Portugal, and 2) assessing its future changes under anthropogenic greenhouse gas forcing (A1B SRES scenario) in the 2011-2070 time period. A set of appropriate bioclimatic indices, computed using temperatures and precipitations defined on a daily basis, is used for viticultural zoning. For the assessment of the recent-past conditions an observational gridded dataset (E-OBS) is used, while for future climate change projections, a 16-member ensemble of model experiments (ENSEMBLES project dataset), is considered. Overall, statistically significant increases (decreases) in the thermally-based (humidity-based) indices are projected to occur in the future throughout the country, particularly over its southern and innermost regions. All these changes are in agreement with the widely accepted projections for warmer and dryer Southern European climates. High impacts are found in the most important winemaking regions in Portugal, highlighting the urgent need for developing suitable adaptation and mitigation measures so as to cope with a changing climate. A reshaping of the viticultural regions is thereby expected to occur within the next decades over Portugal.

Mutation of foxl2 or cyp19a1a Results in Female to Male Sex Reversal in XX Nile Tilapia.

PubMed

Zhang, Xianbo; Li, Mengru; Ma, He; Liu, Xingyong; Shi, Hongjuan; Li, Minghui; Wang, Deshou

2017-08-01

It is well accepted that Forkhead box protein L2 (Foxl2) and aromatase (Cyp19a1; the enzyme responsible for estrogen synthesis) are critical for ovarian development in vertebrates. Knockouts of Foxl2 and Cyp19a1 in goat, mouse, and zebrafish have revealed similar but not identical functions across species. Functional analyses of these two genes in other animals are needed to elucidate their conserved roles in vertebrate sexual development. In this study, we established foxl2 and cyp19a1a mutant lines in Nile tilapia. Both foxl2-/- and cyp19a1a-/- XX fish displayed female-to-male sex reversal. Sf1, Dmrt1, and Gsdf were upregulated in the foxl2-/- and the cyp19a1a-/- XX gonads. Downregulation of Cyp19a1a and serum estradiol-17β level, and upregulation of Cyp11b2 and serum 11-ketotestosterone level were observed in foxl2-/- XX fish. The mutant phenotype of foxl2-/- XX individuals could be rescued by 17β-estradiol treatment from 5 to 30 days after hatching (dah). Upregulation of Star1, the enzyme involved in androgen production in tilapia, was also observed in the foxl2-/- XX gonad at 30 and 90 dah. In vitro promoter analyses consistently demonstrated that Foxl2 could suppress the transcription of star1 in a dose-dependent manner. In addition, compared with the control XX gonad, fewer germ cells were detected in the foxl2-/- XX, cyp19a1a-/- XX, and control XY gonads 10 dah. These results demonstrate that Foxl2 promotes ovarian development by upregulating Cyp19a1a expression and repressing male pathway gene expression. These results extend the study of Foxl2 and Cyp19a1a loss of function to a commercially important fish species. Copyright © 2017 Endocrine Society.

Crown heights in the permanent teeth of 45,X and 45,X/46,XX females.

PubMed

Pentinpuro, Raija Helena; Lähdesmäki, Raija Eliisa; Niinimaa, Ahti Olavi; Pesonen, Paula Ritva Orvokki; Alvesalo, Lassi Juhani

2014-11-01

Previous results regarding human sex chromosome aneuploidies have shown that the X and Y chromosomes affect tooth size and morphology. This study looked for the effect of sex chromosome deficiency on permanent tooth crown heights. The material, from the Finnish KVANTTI Research Project, consisted of 97 45,X females and 15 45,X/46,XX females. The controls were 32 sisters and 28 mothers of the 45,X females, eight sisters and two mothers of the 45,X/46,XX females and 35 female population controls. Crown heights of all the available teeth except third molars on both sides of the jaws were measured from panoramic radiographs with a digital calliper according to the defined procedure. The tooth crown heights were significantly smaller in the 45,X females than in the female population controls, except for the incisors and one canine in the maxilla, whereas the tooth crown heights of the 45,X/46,XX females were close to those of the normal control females. The differences between the 45,X and 45,X/46,XX females were statistically significant, excluding the upper incisor area and a few teeth in the mandible. The effect of the sex chromosome deficiency on permanent tooth crown height is due to the magnitude of lacking sex chromosome material. The present results regarding the 45,X females are parallel to previous findings in Turner patients regarding reduced mesiodistal and labiolingual dimensions and tooth crown heights in the permanent dentition.

Methylation Patterns of SOX3, SOX9, and WNT4 Genes in Gonads of Dogs with XX (SRY-Negative) Disorder of Sexual Development.

PubMed

Salamon, Sylwia; Flisikowski, Krzysztof; Switonski, Marek

2017-01-01

Ovotesticular or testicular disorder of sexual development in dogs with female karyotype and lack of SRY (XX DSD) is a common sexual anomaly diagnosed in numerous breeds. The molecular background, however, remains unclear, and epigenetic mechanisms, including DNA methylation, have not been studied. The aim of our study was comparative methylation analysis of CpG islands in promoters of candidate genes for XX DSD: SOX9, SOX3, and WNT4. Methylation studies were performed on DNA extracted from formalin-fixed/paraffin-embedded or frozen gonads from 2 dogs with ovotesticular and 2 dogs with testicular XX DSD as well as control females (n = 4) and males (n = 2). Bisulfite-converted DNA was used for CpG methylation analysis using quantitative pyrosequencing. Promoter regions of SOX9 and WNT4 showed similar CpG methylation in each group, ranging from 0 to 5.5% and from 39 to 74%, respectively. The SOX3 promoter showed significantly higher methylation in the ovotesticular XX DSD cases and the testicular XX DSD and control males, suggesting that SOX3 methylation may play a role in canine XX DSD pathogenesis. © 2017 S. Karger AG, Basel.

Phytoplankton Bloom Off Portugal

NASA Technical Reports Server (NTRS)

2002-01-01

Turquoise and greenish swirls marked the presence of a large phytoplankton bloom off the coast of Portugal on April 23, 2002. This true-color image was acquired by the Moderate-resolution Imaging Spectroradiometer (MODIS), flying aboard NASA's Terra satellite. There are also several fires burning in northwest Spain, near the port city of A Coruna. Please note that the high-resolution scene provided here is 500 meters per pixel. For a copy of this scene at the sensor's fullest resolution, visit the MODIS Rapidfire site.

Heart failure in numbers: Estimates for the 21st century in Portugal.

PubMed

Fonseca, Cândida; Brás, Daniel; Araújo, Inês; Ceia, Fátima

2018-02-01

Heart failure is a major public health problem that affects a large number of individuals and is associated with high mortality and morbidity. This study aims to estimate the probable scenario for HF prevalence and its consequences in the short-, medium- and long-term in Portugal. This assessment is based on the EPICA (Epidemiology of Heart Failure and Learning) project, which was designed to estimate the prevalence of chronic heart failure in mainland Portugal in 1998. Estimates of heart failure prevalence were performed for individuals aged over 25 years, distributed by age group and gender, based on data from the 2011 Census by Statistics Portugal. The expected demographic changes, particularly the marked aging of the population, mean that a large number of Portuguese will likely be affected by this syndrome. Assuming that current clinical practices are maintained, the prevalence of heart failure in mainland Portugal will increase by 30% by 2035 and by 33% by 2060, compared to 2011, resulting in 479 921 and 494 191 affected individuals, respectively. In addition to the large number of heart failure patients expected, it is estimated that the hospitalizations and mortality associated with this syndrome will significantly increase its economic impact. Therefore, it is extremely important to raise awareness of this syndrome, as this will favor diagnosis and early referral of patients, facilitating better management of heart failure and helping to decrease the burden it imposes on Portugal. Copyright © 2017 Sociedade Portuguesa de Cardiologia. Publicado por Elsevier España, S.L.U. All rights reserved.

A new model for cork weight estimation in Northern Portugal with methodology for construction of confidence intervals

Treesearch

Teresa J.F. Fonseca; Bernard R. Parresol

2001-01-01

Cork, a unique biological material, is a highly valued non-timber forest product. Portugal is the leading producer of cork with 52 percent of the world production. Tree cork weight models have been developed for Southern Portugal, but there are no representative published models for Northern Portugal. Because cork trees may have a different form between Northern and...

Post-fire vegetation recovery in Portugal based on spot/vegetation data

NASA Astrophysics Data System (ADS)

Gouveia, C.; Dacamara, C. C.; Trigo, R. M.

2010-04-01

A procedure is presented that allows identifying large burned scars and the monitoring of vegetation recovery in the years following major fire episodes. The procedure relies on 10-day fields of Maximum Value Composites of Normalized Difference Vegetation Index (MVC-NDVI), with a 1 km×1 km spatial resolution obtained from the VEGETATION instrument. The identification of fire scars during the extremely severe 2003 fire season is performed based on cluster analysis of NDVI anomalies that persist during the vegetative cycle of the year following the fire event. Two regions containing very large burned scars were selected, located in Central and Southwestern Portugal, respectively, and time series of MVC-NDVI analysed before the fire events took place and throughout the post-fire period. It is shown that post-fire vegetation dynamics in the two selected regions may be characterised based on maps of recovery rates as estimated by fitting a monoparametric model of vegetation recovery to MVC-NDVI data over each burned scar. Results indicated that the recovery process in the region located in Central Portugal is mostly related to fire damage rather than to vegetation density before 2003, whereas the latter seems to have a more prominent role than vegetation conditions after the fire episode, e.g. in the case of the region in Southwestern Portugal. These differences are consistent with the respective predominant types of vegetation. The burned area located in Central Portugal is dominated by Pinus Pinaster whose natural regeneration crucially depends on the destruction of seeds present on the soil surface during the fire, whereas the burned scar in Southwestern Portugal was populated by Eucalyptus that may quickly re-sprout from buds after fire. Besides its simplicity, the monoparametric model of vegetation recovery has the advantage of being easily adapted to other low-resolution satellite data, as well as to other types of vegetation indices.

High ozone levels in the northeast of Portugal: Analysis and characterization

NASA Astrophysics Data System (ADS)

Carvalho, A.; Monteiro, A.; Ribeiro, I.; Tchepel, O.; Miranda, A. I.; Borrego, C.; Saavedra, S.; Souto, J. A.; Casares, J. J.

2010-03-01

Each summer period extremely high ozone levels are registered at the rural background station of Lamas d'Olo, located in the Northeast of Portugal. In average, 30% of the total alert threshold registered in Portugal is detected at this site. The main purpose of this study is to characterize the atmospheric conditions that lead to the ozone-rich episodes at this site. Synoptic patterns anomalies and back trajectories cluster analysis were performed, for the period between 2004 and 2007, considering 76 days when ozone maximum hourly concentrations were above 200 μg m -3. The obtained atmospheric anomaly fields suggested that a positive temperature anomaly is visible above the Iberian Peninsula. A strong wind flow pattern from NE is observable in the North of Portugal and Galicia, in Spain. These two features may lead to an enhancement of the photochemical production and to the transport of pollutants from Spain to Portugal. In addition, the 3D mean back trajectories associated to the ozone episode days were analysed. A clustering method has been applied to the obtained back trajectories. Four main clusters of ozone-rich episodes were identified, with different frequencies of occurrence: north-westerly flows (11%); north-easterly flows (45%), southern flow (4%) and westerly flows (40%). Both analyses highlight the NE flow as a dominant pattern over the North of Portugal during summer. The analysis of the ozone concentrations for each selected cluster indicates that this northeast circulation pattern, together with the southern flow, are responsible for the highest ozone peak episodes. This also suggests that long-range transport of atmospheric pollutants is the main contributor to the ozone levels registered at Lamas d'Olo. This is also highlighted by the correlation of the ozone time-series with the meteorological parameters analysed in the frequency domain.

Finding Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 1.

ERIC Educational Resources Information Center

Copeland, William C.

This is the first manual of a 4-part series on how to find, obtain, contract for and manage Federal money for children's services. The first manual concentrates on ways to locate funds for new and existing programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not…

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2013 CFR

2013-07-01

... 40 Protection of Environment 11 2013-07-01 2013-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2010 CFR

2010-07-01

... 40 Protection of Environment 10 2010-07-01 2010-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

40 CFR Table 1 to Subpart Xx of... - Hazardous Air Pollutants

Code of Federal Regulations, 2011 CFR

2011-07-01

... 40 Protection of Environment 10 2011-07-01 2011-07-01 false Hazardous Air Pollutants 1 Table 1 to Subpart XX of Part 63 Protection of Environment ENVIRONMENTAL PROTECTION AGENCY (CONTINUED) AIR PROGRAMS (CONTINUED) NATIONAL EMISSION STANDARDS FOR HAZARDOUS AIR POLLUTANTS FOR SOURCE CATEGORIES (CONTINUED...

Challenges and strategies to improve the availability and geographic accessibility of physicians in Portugal.

PubMed

de Oliveira, Ana Paula Cavalcante; Dussault, Gilles; Craveiro, Isabel

2017-03-23

Shortages of physicians in remote, rural and other underserved areas and lack of general practitioners limit access to health services. The aims of this article are to identify the challenges faced by policy and decision-makers in Portugal to guarantee the availability and geographic accessibility to physicians in the National Health Service and to describe and analyse their causes, the strategies to tackle them and their results. We also raise the issue of whether research evidence was used or not in the process of policy development. We analysed policy and technical documents, peer-reviewed papers and newspaper articles from 1995 to 2015 through a structured search of government websites, Portuguese online newspapers and PubMed and Virtual Health Library (Biblioteca Virtual em Saúde (BVS)) databases; key informants were consulted to validate and complement the documentary search. The challenges faced by decision-makers to ensure access to physicians were identified as a forecasted shortage of physicians, geographical imbalances and maldistribution of physicians by level of care. To date, no human resources for health policy has been formulated, in spite of most documents reviewed stating that it is needed. On the other hand, various isolated and ad hoc strategies have been adopted, such as incentives to choose family health as a specialty or to work in an underserved region and recruitment of foreign physicians through bilateral agreements. Health workforce research in Portugal is scarce, and therefore, policy decisions regarding the availability and accessibility of physicians are not based on evidence. The policy interventions described in this paper should be evaluated, which would be a good starting point to inform health workforce policy development.

Regulation, circulation and distribution of penicillin in Portugal (1944-1954).

PubMed

Bell, Victoria; Rui Pita, João; Pereira, Ana Leonor

Portugal did not participate in World War II but was one of the first countries in the world to receive penicillin for civilian use. The Portuguese Red Cross began to import the antibiotic from the United States of America in 1944 and appointed a controlling committee to oversee its distribution, due to the small amount available. In 1945, as world production increased, penicillin began to be distributed through the normal channels. An important role in its regulation was played by the official department responsible for controlling pharmaceutical and chemical products in Portugal, the Comissão Reguladora dos Produtos Químicos e Farmacêuticos (Regulatory Committee for Chemical and Pharmaceutical Products). Penicillin was imported as a raw material from 1947 and the first medicaments containing penicillin, prepared in Portugal, were released into the commercial circuit in 1948. A laboratory had been established in 1942 by the Comissão Reguladora for the analytical verification of medicaments and medicinal products with the aim of certifying their quality and minimizing the number of products with no attested therapeutic efficacy. The number of medicaments analysed by this laboratory increased substantially from 72 in the year of its foundation (1942) to 2478 in 1954, including, after 1948, medicaments containing penicillin. The aim of the present paper was to elucidate the role of the Comissão Reguladora dos Produtos Químicos e Farmacêuticos in regulating and controlling the distribution of penicillin in Portugal during the 1940s and 1950s.

Palliative care and nursing in dissertations and theses in Portugal: a bibliometric study.

PubMed

Ferreira, Maria Amélia Leite; Pereira, Alexandra Manuela Nogueira de Andrade; Martins, José Carlos Amado; Barbieri-Figueiredo, Maria do Céu

2016-04-01

To identify the academic scientific production on palliative care in master dissertations and PhD theses carried out by nurses in Portugal. A descriptive retrospective study of bibliometric type with search for the abstracts available in repositories of higher education institutions in the period 2000-2014. Of the 1814 papers identified, 249 met the inclusion criteria (ten doctoral theses and 239 master dissertations). The most representative methodological approach was quantitative (31.35%) and the most studied area was family/informal caregiver (20.69%). The most studied target population were the students/health professionals (38.51%). The academic scientific production in this area has been growing in spite of the need for continued investment in order to fill the identified gaps. Identificar a produção científica académica sobre cuidados paliativos nos estudos de mestrados e doutoramentos efetuados por enfermeiros em Portugal. Estudo descritivo e retrospetivo, do tipo bibliométrico, recorrendo aos resumos disponíveis nos repositórios das instituições de ensino superior no período 2000-2014. Dos 1814 trabalhos identificados, 249 corresponderam aos critérios de inclusão (10 teses de doutoramento e 239 dissertações de mestrado). A abordagem metodológica mais representativa é a quantitativa (31,35%), a área mais estudada foi a família/cuidador informal (20,69%) e a população-alvo mais estudada foram os estudantes/profissionais de saúde (38,51%). A produção científica académica nessa área tem vindo a crescer. Embora exista necessidade de investimento contínuo de forma a colmatar as lacunas identificadas.

Marine fungi from Mira river salt marsh in Portugal.

PubMed

Barata, Margarida

2006-09-01

The occurrence of fungi in the Mira salt marsh, Portugal was investigated for 12 months. Baits of Spartina maritima stems were exposed to permanent or temporary submersion at the upper and lower limits of the intertidal zone. The baits were observed for fruit bodies and spores directly and after incubation in moist chambers. Twenty six marine species were identified (17 Ascomycota, two Basidiomycota and seven mitosporic fungi). Twenty four are new records for Portugal. Nia globospora Barata and Basílio was published as a new species. Species were characterized with respect to frequency of occurrence, colonization capability and substrate succession. The diversity and similarity indexes of the fungi under different conditions were determined.

The valuation of the EQ-5D in Portugal.

PubMed

Ferreira, Lara N; Ferreira, Pedro L; Pereira, Luis N; Oppe, Mark

2014-03-01

The EQ-5D is a preference-based measure widely used in cost-utility analysis (CUA). Several countries have conducted surveys to derive value sets, but this was not the case for Portugal. The purpose of this study was to estimate a value set for the EQ-5D for Portugal using the time trade-off (TTO). A representative sample of the Portuguese general population (n = 450) stratified by age and gender valued 24 health states. Face-to-face interviews were conducted by trained interviewers. Each respondent ranked and valued seven health states using the TTO. Several models were estimated at both the individual and aggregated levels to predict health state valuations. Alternative functional forms were considered to account for the skewed distribution of these valuations. The models were analyzed in terms of their coefficients, overall fit and the ability for predicting the TTO values. Random effects models were estimated using generalized least squares and were robust across model specification. The results are generally consistent with other value sets. This research provides the Portuguese EQ-5D value set based on the preferences of the Portuguese general population as measured by the TTO. This value set is recommended for use in CUA conducted in Portugal.

Lyme borreliosis spirochetes in questing ticks from mainland Portugal.

PubMed

Baptista, Susana; Quaresma, Ana; Aires, Tânia; Kurtenbach, Klaus; Santos-Reis, Margarida; Nicholson, Matthew; Collares-Pereira, Margarida

2004-04-01

In Portugal, Ixodes ricinus ticks have been shown to contain DNA of several spirochetes belonging to the Borrelia burgdorferi sensu lato complex, with major differences in the genetic diversity between ecozones. Some isolates have been obtained since 1999, confirming the circulation of pathogenic strains in these ticks. Ixodes ricinus is considered to be a widespread species, however, in Portugal it is found only in a few habitats. Here we present preliminary results from a nationwide survey of questing I. ricinus (n = 4,001) and other Ixodidae (n = 1,534) in Portugal, initiated in 2001. The sampling points (so far 41) were selected using a Geographic Information System, according to the type of vegetation, accessibility and prevalence of human cases. The spatial and temporal of tick abundance and the infection of B. burgdorferi sensu lato in ticks were determined in selected areas. Ticks were examined for the presence of B. burgdorferi sensu lato by culturing (719 out of 4,001 I. ricinus), and direct PCR amplification of the 5S-23S intergenic spacer region (1,870 out of 5,535) followed by RFLP analysis, the reverse line blot assay and nucleotide sequencing of PCR amplicons. The most abundant tick genus was Rhipicephalus (53%), followed by Dermacentor (34%), I. ricinus and Hyalomma (7%, each). The Mafra and Grândola sites, where a more intensive study was carried out, were excellent habitats for I. ricinus. However, a clear difference of the prevalence of Borrelia infection and the genetic diversity of circulating spirochetes was observed in these two sites. Genotyping of all I. ricinus isolates revealed 5 B. garinii, 8 B. lusitaniae and 1 B. valaisiana strains, which were obtained for the first time in these regions along with a considerable percentage of tick-derived PCR amplicons. Two hard-tick species other than I. ricinus in Grândola were also B. lusitaniae positive, thus seeming to take part in the transmission cycle of Borrelia. The seasonal dynamics of I

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

PubMed

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A; Looijenga, Leendert H J; De Baere, Elfride; Cools, Martine

2017-04-01

We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad.Genet Med 19 4, 367-376.

Training in the Retail Trade in Portugal. Report for the FORCE Programme. Retail Sector.

ERIC Educational Resources Information Center

Cerdeira, Maria Conceicao; And Others

A study examined training in the retail trade in Portugal. Employment, work, and training patterns in Portugal's retail sector were researched, and case studies of two firms in the supermarket/hypermarket group, one firm in the stationary/cigarette shop sector, and one clothing manufacturer/retailer were conducted. Teams of researchers interviewed…

Portugal takes step back on abortion legalization.

PubMed

1998-07-01

According to international press reports, a law that would have allowed Portuguese women abortions through the 10th week of pregnancy and into the 16th week if their physical or mental health was at risk has been rescinded after a referendum to determine the statute's future was voided because of low voter turnout. Passed in February, the law was a liberalization of Portugal's strict anti-abortion laws, which ban all abortions except for narrowly defined medical reasons or in the case of rape (and those are permitted only until the 12th week of pregnancy). Because the issue is such a controversial one, politicians had turned to a national referendum asking Portuguese voters to overturn or ratify the new law. The referendum was the first in the country since the end of its right-wing dictatorship in 1974, and 50% participation was required. Only 31.5% of the country's 8.5 million eligible voters went to the polls on June 28. Of those voting, 50.9% voted against the liberalized new legislation. Sunny weather and World Cup soccer matches were both pointed to as reasons for the low turnout. Officials estimate there are some 20,000 illegal abortions annually in Portugal. Abortion-rights activists in the mostly Roman-Catholic country say hospitals see roughly 10,000 women a year suffering from complications from illegal abortions, and that at least 800 women die each year from the procedure. In the next day's Diario de Noticias, a daily paper in Portugal, the entire front page was filled with a giant question mark. "What now, lawmakers?" the headline read. full text

Attempt to rescue sex-reversal by transgenic expression of the PISRT1 gene in XX PIS-/- goats.

PubMed

Boulanger, L; Kocer, A; Daniel, N; Pannetier, M; Chesné, P; Heyman, Y; Renault, L; Mandon-Pépin, B; Chavatte-Palmer, P; Vignon, X; Vilotte, J-L; Cotinot, C; Renard, J-P; Pailhoux, E

2008-01-01

The Polled Intersex Syndrome (PIS mutation) in goats leads to an absence of horn and to an early sex-reversal of the XX gonads. This mutation is a deletion of an 11.7-kb DNA fragment showing a tissue-specific regulatory activity. Indeed, in XX PIS(-/-) gonads the deletion of PIS leads to the transcriptional extinction of at least 3 neighboring genes, FOXL2, PFOXic and PISRT1. Among them, only FOXL2 is a 'classical' gene, encoding a highly conserved transcription factor. On the other hand, knock-out of Foxl2 in mice results in an early blocking of follicle formation without sex-reversal. This phenotype discrepancy leads to two hypotheses, either FOXL2 is responsible for XX sex-reversal in goat assuming distinct functions of its protein during ovarian differentiation in different mammals, or other PIS-regulated genes are involved. To assess the second possibility, PISRT1 expression was constitutively restored in XX PIS(-/-) gonads. Six transgenic fetuses were obtained by nuclear transfer and studied at 2 developmental stages, 41 and 46 days post-reconstruction. The gonads of these fetuses appear phenotypically identical to those of cloned non-transgenic controls. Conclusively, this result argues for FOXL2 being responsible for the PIS gonad-associated phenotype. Its invalidation in goat will help to better understand this complex syndrome. Copyright 2008 S. Karger AG, Basel.

Crystal structure of the second fibronectin type III (FN3) domain from human collagen α1 type XX.

PubMed

Zhao, Jingfeng; Ren, Jixia; Wang, Nan; Cheng, Zhong; Yang, Runmei; Lin, Gen; Guo, Yi; Cai, Dayong; Xie, Yong; Zhao, Xiaohong

2017-12-01

Collagen α1 type XX, which contains fibronectin type III (FN3) repeats involving six FN3 domains (referred to as the FN#1-FN#6 domains), is an unusual member of the fibril-associated collagens with interrupted triple helices (FACIT) subfamily of collagens. The results of standard protein BLAST suggest that the FN3 repeats might contribute to collagen α1 type XX acting as a cytokine receptor. To date, solution NMR structures of the FN#3, FN#4 and FN#6 domains have been determined. To obtain further structural evidence to understand the relationship between the structure and function of the FN3 repeats from collagen α1 type XX, the crystal structure of the FN#2 domain from human collagen α1 type XX (residues Pro386-Pro466; referred to as FN2-HCXX) was solved at 2.5 Å resolution. The crystal structure of FN2-HCXX shows an immunoglobulin-like fold containing a β-sandwich structure, which is formed by a three-stranded β-sheet (β1, β2 and β5) packed onto a four-stranded β-sheet (β3, β4, β6 and β7). Two consensus domains, tencon and fibcon, are structural analogues of FN2-HCXX. Fn8, an FN3 domain from human oncofoetal fibronectin, is the closest structural analogue of FN2-HCXX derived from a naturally occurring sequence. Based solely on the structural similarity of FN2-HCXX to other FN3 domains, the detailed functions of FN2-HCXX and the FN3 repeats in collagen α1 type XX cannot be identified.

XX/XY Sex Chromosomes in the South American Dwarf Gecko (Gonatodes humeralis).

PubMed

Gamble, Tony; McKenna, Erin; Meyer, Wyatt; Nielsen, Stuart V; Pinto, Brendan J; Scantlebury, Daniel P; Higham, Timothy E

2018-05-11

Sex-specific genetic markers identified using restriction site-associated DNA sequencing, or RADseq, permits the recognition of a species' sex chromosome system in cases where standard cytogenetic methods fail. Thus, species with male-specific RAD markers have an XX/XY sex chromosome system (male heterogamety) while species with female-specific RAD markers have a ZZ/ZW sex chromosome (female heterogamety). Here, we use RADseq data from 5 male and 5 female South American dwarf geckos (Gonatodes humeralis) to identify an XX/XY sex chromosome system. This is the first confidently known sex chromosome system in a Gonatodes species. We used a low-coverage de novo G. humeralis genome assembly to design PCR primers to validate the male-specificity of a subset of the sex-specific RADseq markers and describe how even modest genome assemblies can facilitate the design of sex-specific PCR primers in species with diverse sex chromosome systems.

FGF9, activin and TGFβ promote testicular characteristics in an XX gonad organ culture model.

PubMed

Gustin, Sonja E; Stringer, Jessica M; Hogg, Kirsten; Sinclair, Andrew H; Western, Patrick S

2016-11-01

Testis development is dependent on the key sex-determining factors SRY and SOX9, which activate the essential ligand FGF9. Although FGF9 plays a central role in testis development, it is unable to induce testis formation on its own. However, other growth factors, including activins and TGFβs, also present testis during testis formation. In this study, we investigated the potential of FGF9 combined with activin and TGFβ to induce testis development in cultured XX gonads. Our data demonstrated differing individual and combined abilities of FGF9, activin and TGFβ to promote supporting cell proliferation, Sertoli cell development and male germ line differentiation in cultured XX gonads. FGF9 promoted proliferation of supporting cells in XX foetal gonads at rates similar to those observed in vivo during testis cord formation in XY gonads but was insufficient to initiate testis development. However, when FGF9, activin and TGFβ were combined, aspects of testicular development were induced, including the expression of Sox9, morphological reorganisation of the gonad and deposition of laminin around germ cells. Enhancing β-catenin activity diminished the testis-promoting activities of the combined growth factors. The male promoting activity of FGF9 and the combined growth factors directly or indirectly extended to the germ line, in which a mixed phenotype was observed. FGF9 and the combined growth factors promoted male germ line development, including mitotic arrest, but expression of pluripotency genes was maintained, rather than being repressed. Together, our data provide evidence that combined signalling by FGF9, activin and TGFβ can induce testicular characteristics in XX gonads. © 2016 Society for Reproduction and Fertility.

Determinant representations of spin-operator matrix elements in the XX spin chain and their applications

NASA Astrophysics Data System (ADS)

Wu, Ning

2018-01-01

For the one-dimensional spin-1/2 XX model with either periodic or open boundary conditions, it is shown by using a fermionic approach that the matrix element of the spin operator Sj- (Sj-Sj'+ ) between two eigenstates with numbers of excitations n and n +1 (n and n ) can be expressed as the determinant of an appropriate (n +1 )×(n +1 ) matrix whose entries involve the coefficients of the canonical transformations diagonalizing the model. In the special case of a homogeneous periodic XX chain, the matrix element of Sj- reduces to a variant of the Cauchy determinant that can be evaluated analytically to yield a factorized expression. The obtained compact representations of these matrix elements are then applied to two physical scenarios: (i) Nonlinear optical response of molecular aggregates, for which the determinant representation of the transition dipole matrix elements between eigenstates provides a convenient way to calculate the third-order nonlinear responses for aggregates from small to large sizes compared with the optical wavelength; and (ii) real-time dynamics of an interacting Dicke model consisting of a single bosonic mode coupled to a one-dimensional XX spin bath. In this setup, full quantum calculation up to N ≤16 spins for vanishing intrabath coupling shows that the decay of the reduced bosonic occupation number approaches a finite plateau value (in the long-time limit) that depends on the ratio between the number of excitations and the total number of spins. Our results can find useful applications in various "system-bath" systems, with the system part inhomogeneously coupled to an interacting XX chain.

The Trouble with Title XX: A Review of Child Daycare Policy.

ERIC Educational Resources Information Center

Morgan, Gwen G.

This discussion of government policy concerning child day care calls for a shift from provider-oriented to consumer-oriented services funded under Title XX of the Social Security Amendments. Three general views of child day care are described: the social services view, the school-oriented view, and a newer, parent-supportive, consumer-oriented…

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

PubMed Central

Baetens, Dorien; Stoop, Hans; Peelman, Frank; Todeschini, Anne-Laure; Rosseel, Toon; Coppieters, Frauke; Veitia, Reiner A.; Looijenga, Leendert H.J.; De Baere, Elfride; Cools, Martine

2017-01-01

Purpose: We aimed to identify the genetic cause in a cohort of 11 unrelated cases and two sisters with 46,XX SRY-negative (ovo)testicular disorders of sex development (DSD). Methods: Whole-exome sequencing (n = 9), targeted resequencing (n = 4), and haplotyping were performed. Immunohistochemistry of sex-specific markers was performed on patients' gonads. The consequences of mutation were investigated using luciferase assays, localization studies, and RNA-seq. Results: We identified a novel heterozygous NR5A1 mutation, c.274C>T p.(Arg92Trp), in three unrelated patients. The Arg92 residue is highly conserved and located in the Ftz-F1 region, probably involved in DNA-binding specificity and stability. There were no consistent changes in transcriptional activation or subcellular localization. Transcriptomics in patient-derived lymphocytes showed upregulation of MAMLD1, a direct NR5A1 target previously associated with 46,XY DSD. In gonads of affected individuals, ovarian FOXL2 and testicular SRY-independent SOX9 expression observed. Conclusions: We propose NR5A1, previously associated with 46,XY DSD and 46,XX primary ovarian insufficiency, as a novel gene for 46,XX (ovo)testicular DSD. We hypothesize that p.(Arg92Trp) results in decreased inhibition of the male developmental pathway through downregulation of female antitestis genes, thereby tipping the balance toward testicular differentiation in 46,XX individuals. In conclusion, our study supports a role for NR5A1 in testis differentiation in the XX gonad. Genet Med 19 4, 367–376. PMID:27490115

Risk factors for human papillomavirus infection among women in Portugal: the CLEOPATRE Portugal Study.

PubMed

Pista, Angela; de Oliveira, Carlos F; Cunha, Maria J; Paixao, Maria T; Real, Odete

2012-08-01

To investigate demographic, socioeconomic, lifestyle, and medical factors that might predispose women to cervical human papillomavirus (HPV) infection. A cross-sectional population-based study was performed. Women aged 18-64 years who attended selected obstetrics and gynecology or sexually transmitted disease (STD) clinics in mainland Portugal between February 2008 and March 2009 were recruited, according to an age-stratified sampling strategy. Liquid-based cytology samples were analyzed centrally for HPV genotype and for cytologic features. Univariate and multivariate logistic regression analyses identified risk factors for HPV infection. Among the 2326 women evaluated, the crude prevalence of HPV infection was 19.4%. Lifetime number of sexual partners was a strong predictor of HPV infection (odds ratio 5.44 for 5-10 partners versus 1 partner; P<0.001). Other risk factors were young age (particularly among women aged 20-24 years; P<0.001); country of birth other than mainland Portugal (P=0.002); education up to secondary school level (P=0.010); smoking history (≤ 10 years; P=0.004); and any STD in the past 12 months (P=0.052). Data from the present study may aid identification of women at increased risk of HPV infection and target prevention strategies. National Commission of Data Protection (CNPD) registration number 5346/2007; Sanofi Pasteur MSD study number HPV-E05. Copyright © 2012 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

Chewing lice (Phthiraptera) from wild birds in southern Portugal.

PubMed

Tomás, André; Palma, Ricardo L; Rebelo, Maria Teresa; da Fonseca, Isabel Pereira

2016-06-01

This study was carried out to determine chewing louse species of wild birds in the Ria Formosa Natural Park, located in southern Portugal. In addition, the hypothesis that bird age, avian migration and social behaviour have an impact on the louse prevalence was tested. Between September and December of 2013, 122 birds (belonging to 10 orders, 19 families, 31 genera and 35 species) captured in scientific ringing sessions and admitted to the Wildlife Rehabilitation and Investigation Centre of Ria Formosa were examined for lice. Twenty-six (21.3%) birds were found to be infested with at least one chewing louse species. The chewing lice identified include 18 species. Colonial birds (34.9%) and migratory birds (29.5%) had statistically significant higher prevalence than territorial birds (6.8%) and resident birds (13.1%), respectively. This paper records 17 louse species for the first time in southern Portugal: Laemobothrion maximum, Laemobothrion vulturis, Actornithophilus piceus lari, Actornithophilus umbrinus, Austromenopon lutescens, Colpocephalum heterosoma, Colpocephalum turbinatum, Eidmanniella pustulosa, Nosopon casteli, Pectinopygus bassani, Pseudomenopon pilosum, Trinoton femoratum, Trinoton querquedulae, Craspedorrhynchus platystomus, Degeeriella fulva, Falcolipeurus quadripustulatus, Lunaceps schismatus. Also a nymph of the genus Strigiphilus was collected from a Eurasian eagle-owl. These findings contribute to the knowledge of avian chewing lice from important birds areas in Portugal. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

[Cerebrovascular mortality in Portugal: are we overemphasizing hypertension and neglecting atrial fibrillation?].

PubMed

Providência, Rui; Gonçalves, Lino; Ferreira, Maria João

2013-11-01

Cerebrovascular disease has long been the leading cause of death in Portugal. Despite improvements in the treatment of hypertension and the resulting decrease in associated mortality, the progressive aging of the population and increased prevalence of atrial fibrillation have prevented the incidence of stroke from falling as much as desired. The authors review the evidence on the situation in Portugal and propose an intervention plan. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.

PubMed

Swartz, Jonathan M; Ciarlo, Ryan; Guo, Michael H; Abrha, Aser; Weaver, Benjamin; Diamond, David A; Chan, Yee-Ming; Hirschhorn, Joel N

2017-01-01

A variant in steroidogenic factor-1 (SF-1, encoded by the gene NR5A1), p.Arg92Trp, has recently been reported in multiple families with 46,XX ovotesticular or testicular disorders of sex development (DSD). This amino acid change impacts the DNA-binding domain and perturbs gonadal differentiation pathways. Whole-exome sequencing was performed on a 46,XX subject with ovotesticular DSD. Exome results identified a heterozygous NR5A1 variant, p.Arg92Gln, in the 46,XX ovotesticular DSD proband. This arginine-to-glutamine change has been previously reported in the homozygous state in a 46,XY patient with gonadal and adrenal dysgenesis, though 46,XY and 46,XX heterozygous carriers of this variant have not been previously reported to have any clinical phenotype. The NR5A1 p.Arg92Gln variant, which has thus far only been seen in a family with 46,XY DSD, most likely contributes to the ovotesticular DSD in this case. In light of the recent reports of unrelated 46,XX subjects with testicular or ovotesticular DSD with the NR5A1 variant p.Arg92Trp, it appears that other mutations in the DNA binding domain have the potential to impact the factors determining testicular and ovarian differentiation. This case demonstrates the variability of phenotypes with the same genotype and broadens our understanding of the role of SF-1 in gonadal differentiation. © 2016 S. Karger AG, Basel.

Short-term rainfall: its scaling properties over Portugal

NASA Astrophysics Data System (ADS)

de Lima, M. Isabel P.

2010-05-01

The characterization of rainfall at a variety of space- and time-scales demands usually that data from different origins and resolution are explored. Different tools and methodologies can be used for this purpose. In regions where the spatial variation of rain is marked, the study of the scaling structure of rainfall can lead to a better understanding of the type of events affecting that specific area, which is essential for many engineering applications. The relevant factors affecting rain variability, in time and space, can lead to contrasting statistics which should be carefully taken into account in design procedures and decision making processes. One such region is Mainland Portugal; the territory is located in the transitional region between the sub-tropical anticyclone and the subpolar depression zones and is characterized by strong north-south and east-west rainfall gradients. The spatial distribution and seasonal variability of rain are particularly influenced by the characteristics of the global circulation. One specific feature is the Atlantic origin of many synoptic disturbances in the context of the regional geography (e.g. latitude, orography, oceanic and continental influences). Thus, aiming at investigating the statistical signature of rain events of different origins, resulting from the large number of mechanisms and factors affecting the rainfall climate over Portugal, scale-invariant analyses of the temporal structure of rain from several locations in mainland Portugal were conducted. The study used short-term rainfall time series. Relevant scaling ranges were identified and characterized that help clarifying the small-scale behaviour and statistics of this process.

Atmospheric circulation classification comparison based on wildfires in Portugal

NASA Astrophysics Data System (ADS)

Pereira, M. G.; Trigo, R. M.

2009-04-01

Atmospheric circulation classifications are not a simple description of atmospheric states but a tool to understand and interpret the atmospheric processes and to model the relation between atmospheric circulation and surface climate and other related variables (Radan Huth et al., 2008). Classifications were initially developed with weather forecasting purposes, however with the progress in computer processing capability, new and more robust objective methods were developed and applied to large datasets prompting atmospheric circulation classification methods to one of the most important fields in synoptic and statistical climatology. Classification studies have been extensively used in climate change studies (e.g. reconstructed past climates, recent observed changes and future climates), in bioclimatological research (e.g. relating human mortality to climatic factors) and in a wide variety of synoptic climatological applications (e.g. comparison between datasets, air pollution, snow avalanches, wine quality, fish captures and forest fires). Likewise, atmospheric circulation classifications are important for the study of the role of weather in wildfire occurrence in Portugal because the daily synoptic variability is the most important driver of local weather conditions (Pereira et al., 2005). In particular, the objective classification scheme developed by Trigo and DaCamara (2000) to classify the atmospheric circulation affecting Portugal have proved to be quite useful in discriminating the occurrence and development of wildfires as well as the distribution over Portugal of surface climatic variables with impact in wildfire activity such as maximum and minimum temperature and precipitation. This work aims to present: (i) an overview the existing circulation classification for the Iberian Peninsula, and (ii) the results of a comparison study between these atmospheric circulation classifications based on its relation with wildfires and relevant meteorological

The Afrotropical Miomantiscaffra Saussure 1871 and Miomantispaykullii Stal 1871: first records of alien mantid species in Portugal and Europe, with an updated checklist of Mantodea in Portugal (Insecta: Mantodea).

PubMed

Marabuto, Eduardo

2014-01-01

The recent growing interest on the Mantodea fauna of southern Europe and Portugal in particular, has enabled the discovery of two geographically separated populations of hitherto unknown species in Europe. Analysis of specimens shows that they belong to two Afrotropical mantids: Miomantiscaffra Saussure, 1871 and Miomantispaykullii Stal, 1871, thus raising the number of known species in Europe to 39 and in Portugal to 11. While these are remarkable findings, they also represent the first alien mantis species recorded from this continent. As yet, these species appear to be confined to artificial humanised gardened areas but call for more attention to the problem of biological invasions and the need for better bio-security measures for the conservation of natural ecosystems. In the absence of recent revisionary work on the Mantodea of Portugal and given the need to provide an accessible identification tool, both a checklist and a key to species are provided for all species in the country.

Genetic and physical analyses of Methylobacterium organophilum XX genes encoding methanol oxidation

DOE Office of Scientific and Technical Information (OSTI.GOV)

Machlin, S.M.; Tam, P.E.; Bastien, C.A.

When allyl alcohol was used as a suicide substrate, spontaneous mutants and UV light- and nitrous acid-generated mutants of Methylobacterium organophilum XX were selected which grew on methylamine but not on methanol. There was no detectable methanol dehydrogenase (MDH) activity in crude extracts of these mutants, yet Western blots revealed that some mutants still produced MDH protein. Complementation of 50 mutants by a cosmid gene bank of M. organophilum XX demonstrated that three major regions of the genome, each of which was separated by a minimum of 40 kilobases, were required for expression of active MDH. By subcloning and Tn5more » insertion mutagenesis of subcloned fragments, at least 11 genes clustered within these three regions were subsequently identified. The identity of the MDH structural gene, which was initially determined by hybridization to the structural gene of Methylobacterium sp. strain AM1, was confirmed by Western blot analysis of an MDH-..beta..-galactosidase fusion protein.« less

Child Poverty in Portugal: Dimensions and Dynamics

ERIC Educational Resources Information Center

Bastos, Amelia; Nunes, Francisco

2009-01-01

This article analyses the extent and persistence of child poverty in Portugal between 1995 and 2001. Data from the Portuguese component of the European Community Household Panel Survey (ECHP) are used to estimate child poverty rates and children's flows in and out of poverty. The article focuses upon an analysis based on family income and on a set…

Migration Flow and Its Impact on Tuberculosis Notification in Portugal.

PubMed

Dias, Ana; Gaio, Rita; Sousa, Pedro; Gomes, Marta; Oliveira, Olena; Duarte, Raquel

2018-01-01

Tuberculosis notification in Portugal has decreased in the last few years. As a consequence of the economic crisis, emigration has increased and immigration has decreased. Immigrants are a risk group for tuberculosis. Most emigrants are 20-44 years old and belong to the age group most affected by tuberculosis. To describe the decrease in tuberculosis notification in Portugal over the last years from a demographical point of view. Mathematical analysis was performed to quantify the effect of the migration movements (separately and simultaneously) on tuberculosis notification in Portugal from 2008 to 2014. We calculated the estimated tuberculosis notification for each year during the period of study: 1) fixing immigration rate and tuberculosis rate in immigrants at 2008 values; 2) fixing emigration rate and tuberculosis rate in emigrants at 2008 values; 3) fixing both phenomenons at 2008 values. The differences between the observed and the estimated numbers were small (≤0.5 cases/100000 inhabitants). Impact of the migration movements on tuberculosis notification rate does not seem to be significant when analyzed for each phenomenon individually and simultaneously, by our model. This might mean that we have to concentrate our efforts in other risk factors for tuberculosis. Copyright © 2017 SEPAR. Publicado por Elsevier España, S.L.U. All rights reserved.

Contribution of spoligotyping to the characterization of the population structure of Mycobacterium tuberculosis isolates in Portugal.

PubMed

David, Suzana; Ribeiro, Diana Raposo; Antunes, Abílio; Portugal, Clara; Sancho, Luísa; de Sousa, José Germano

2007-09-01

Tuberculosis is a major health problem in Portugal. To begin characterizing the population structure of Mycobacterium tuberculosis, spoligotyping was used for the systematic typing, through consecutive sampling, of patient isolates from the Amadora-Sintra area of Greater Lisbon. Distribution amongst major spoligotype families, including the Latin American Mediterranean (LAM), T, Haarlem and Beijing, was compared to that of the international spoligotype database SpolDB4 and to the European countries of traditional Portuguese immigration represented in SpolDB4. Spoligotypes from 665 isolates were analyzed and 97 shared international types (SITs) identified. In SpolDB4 Portugal is represented by part of the spoligotypes from this study explaining the reduced number of unidentified patterns. The importance of the LAM family, and especially of LAM1 and LAM9 sub-families that alone represented 38% of all the isolates in this study as compared to 8% relative to the European sub group, led us to believe that at least in this respect the population structure was closer to that of Africa and South America than to Europe. Spoligotypes characteristic of Portugal or Portuguese related settings were identified. These included SIT244 a T1 sub-family predominant in Portugal and Bangladesh, SIT64 a LAM 6 sub-family common to Portugal and Brazil, and SIT1106 a LAM 9 sub-family. These studies were the first in Portugal stressing the importance of monitoring the population structure of M. tuberculosis isolates, an important step towards gaining an understanding of tuberculosis and the dynamics of this disease.

A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation.

PubMed

Talreja, Shyam M; Banerjee, Indraneel; Yadav, Sher Singh; Tomar, Vinay

2015-01-01

Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency.

Echinococcus granulosus in Portugal: the first report of the G7 genotype in cattle.

PubMed

Beato, Sílvia; Parreira, Ricardo; Roque, Cláudio; Gonçalves, Matilde; Silva, Liliana; Maurelli, Maria Paola; Cringoli, Giuseppe; Grácio, Maria Amélia

2013-11-15

Although cystic echinococcosis (CE) has been a recognized public health problem in Portugal, molecular data regarding the types and prevalence of infecting strains of its etiological agent (Echinococcus granulosus) are still scarce. Over the last years we have been evaluating the prevalence of CE in the country, and in this report we determined the parasite genotypes infecting sheep, goats, cattle and human in Portugal, based on 209 hydatid cysts recovered from liver (n=96), lung (n=95), pancreas (n=17) and kidney (n=1) samples obtained between 2008 and 2011. Protoscoleces or germinal layers were collected from individual cysts, DNA was extracted, and a part of the mitochondrial DNA encoding the cytochrome c oxidase subunit 1 was amplified by PCR. Overall, the results confirm the overall dominance of the G1-G3 cluster of strains, which are particularly prevalent in southern Portugal in livestock ruminants. Unexpectedly, one parasite sequence with cattle origin was found to correspond to E. granulosus G7 genotype (also known as E. intermedius), here reported for the first time in bovine, in Portugal. Copyright © 2013 Elsevier B.V. All rights reserved.

School Psychology in Portugal: Practitioners' Characteristics and Practices

ERIC Educational Resources Information Center

Mendes, Sofia A.; Abreu-Lima, Isabel; Almeida, Leandro S.; Simeonsson, Rune J.

2014-01-01

Little empirical evidence is available on the professional characteristics and practices of school psychologists in Portugal. This study surveyed a total of 477 Portuguese school psychologists employed in public (80%) and private schools (20%). Portuguese school psychologists are described with regard to demographic, professional, and educational…

Women in Portugal.

PubMed

Barbosa, M

1981-01-01

Prior to 1974, women in Portugal were restricted by the Penal Code and had little organizational power. Women's groups were formed within the Catholic Church to teach women about cooking, child care, and home economics. There was no contact with international women's groups. The press only reported events such as bra burning. 80% of all illiterates in Portugal are women. The conditions of Portuguese women are described after the revolution of April 25, 1974. Present roles are discussed for work, health, education, religion, trade unions and political parties, and women's organizations. The Women's Liberation Movement (WLM) appeared in May 1974 among a heterogenous group of women in Lisbon who were concerned about the oppression of women. WLM made feminist issues public amid ridicule and promoted the declaration of equal rights for women in the 1976 Republic Constitution and in the Family Code. Wage discrimination became illegal in 1979. Women represent 32.8% of the labor force. Unemployment is particularly high among women and is increasing. Women's wages and levels of skill are the lowest. The Christian Democratic government is actively engaged in a campaign to keep women at home and has formed the special Ministry of Family Affairs, which encourages large families and women's home activity in order to save jobs for men. There is a crisis in education: large class sizes and limited number of schools. Child care for the working mother is expensive when available and rarely available. An obstacle to women's rights has been the role of the Catholic Church, which fought equal rights legislation, condemned the Family Code and divorce laws, forbade the practice of contraception, and supported the movement against abortion. Only 1 member of government is a women, and she is considered a token. Trade unions have a women's section, but little attention is given to the problems of women. Women's groups within larger organizations have little autonomy. Those with autonomy

Statistical-dynamical modeling of the cloud-to-ground lightning activity in Portugal

NASA Astrophysics Data System (ADS)

Sousa, J. F.; Fragoso, M.; Mendes, S.; Corte-Real, J.; Santos, J. A.

2013-10-01

The present study employs a dataset of cloud-to-ground discharges over Portugal, collected by the Portuguese lightning detection network in the period of 2003-2009, to identify dynamically coherent lightning regimes in Portugal and to implement a statistical-dynamical modeling of the daily discharges over the country. For this purpose, the high-resolution MERRA reanalysis is used. Three lightning regimes are then identified for Portugal: WREG, WREM and SREG. WREG is a typical cold-core cut-off low. WREM is connected to strong frontal systems driven by remote low pressure systems at higher latitudes over the North Atlantic. SREG is a combination of an inverted trough and a mid-tropospheric cold-core nearby Portugal. The statistical-dynamical modeling is based on logistic regressions (statistical component) developed for each regime separately (dynamical component). It is shown that the strength of the lightning activity (either strong or weak) for each regime is consistently modeled by a set of suitable dynamical predictors (65-70% of efficiency). The difference of the equivalent potential temperature in the 700-500 hPa layer is the best predictor for the three regimes, while the best 4-layer lifted index is still important for all regimes, but with much weaker significance. Six other predictors are more suitable for a specific regime. For the purpose of validating the modeling approach, a regional-scale climate model simulation is carried out under a very intense lightning episode.

Critical analysis of documentary sources for Historical Climatology of Northern Portugal (17th-19th centuries)

NASA Astrophysics Data System (ADS)

Amorim, Inês; Sousa Silva, Luís; Garcia, João Carlos

2017-04-01

Critical analysis of documentary sources for Historical Climatology of Northern Portugal (17th-19th centuries) Inês Amorim CITCEM, Department of History, Political and International Studies, U. of Porto, Portugal. Luís Sousa Silva CITCEM, PhD Fellowship - FCT. João Carlos Garcia CIUHCT, Geography Department, U. of Porto, Portugal. The first major national project on Historical Climatology in Portugal, called "KLIMHIST: Reconstruction and model simulations of past climate in Portugal using documentary and early instrumental sources (17th-19th centuries)", ended in September 2015, coordinated by Maria João Alcoforado. This project began in March 2012 and counted on an interdisciplinary team of researchers from four Portuguese institutions (Centre of Geographical Studies, University of Trás-os-Montes and Alto Douro, University of Porto, and University of Évora), from different fields of knowledge (Geography, History, Biology, Climatology and Meteorology). The team networked and collaborated with other international research groups on Climate Change and Historical Climatology, resulting in several publications. This project aimed to reconstruct thermal and rainfall patterns in Portugal between the 17th and 19th centuries, as well as identify the main hydrometeorological extremes that occurred over that period. The basic methodology consisted in combining information from different types of anthropogenic sources (descriptive and instrumental) and natural sources (tree rings and geothermal holes), so as to develop climate change models of the past. The data collected were stored in a digital database, which can be searched by source, date, location and type of event. This database, which will be made publically available soon, contains about 3500 weather/climate-related records, which have begun to be studied, processed and published. Following this seminal project, other initiatives have taken place in Portugal in the area of Historical Climatology, namely a Ph

Audit-Proof Contracting for Federal Money for Children's Services: Financing Services for Children through Title XX and Other Programs. Manual 3.

ERIC Educational Resources Information Center

Copeland, William C.

This is the third of a 3-part series on how to locate, obtain, and manage Federal money for children's services. This manual concentrates on the contracting of money for specific programs. Emphasis is on Title XX of the Social Security Act, but attention is given also to alternative sources where Title XX funds are not sufficient. Although useful…

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

PubMed

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz-de-Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C; Mendonca, Berenice Bilharinho

2016-12-01

Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype-phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian-determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1-related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever-expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal dysfunction

Population pharmacokinetics and pharmacodynamics of ticagrelor and AR-C124910XX in Chinese healthy male subjects.

PubMed

Liu, Shuaibing; Xue, Ling; Shi, Xiangfen; Sun, Zhiyong; Zhu, Zhenfeng; Zhang, Xiaojian; Tian, Xin

2018-06-01

Ticagrelor, the first reversible P2Y 12 receptor antagonist, exhibits faster onset and offset of antiplatelet effects and more consistent platelet inhibition than clopidogrel in both healthy subjects and patients with stable coronary artery disease. The objectives of this study were to establish a population pharmacokinetics (PK) and pharmacodynamics (PD) model of ticagrelor and to provide a theoretical basis for the optimization of ticagrelor treatment in clinic. A single oral dose of 180 mg ticagrelor was administered to 14 healthy male subjects in a randomized study. Common single-nucleotide polymorphisms (SNPs) in biotransformation enzymes CYP3A4 and CYP3A5 (CYP3A4*1G and CYP3A5*3) were genotyped by PCR-direct sequencing. Blood samples were collected to measure plasma concentrations of ticagrelor and its active metabolite AR-C124910XX and maximal platelet inhibition. Various models were evaluated to characterize the pharmacokinetics of ticagrelor and AR-C124910XX as well as their PK-PD relationship. Covariates that may potentially affect PK or PD of ticagrelor and AR-C124910XX were included and assessed. Simulation for dosage regimen was performed based on the final PK-PD model. Ticagrelor and AR-C124910XX PK were best described by a two-compartment model with first-order transit absorption model. CYP3A4*1G increased clearance for AR-C124910XX, but had no significant effect on ticagrelor clearance. The relationship between concentration and platelet response of ticagrelor was best described by a turnover model. Simulation results indicated that a lower dosage regimen of 30 mg maintenance dose (MD) could produce an anticipated anti-platelet response in comparison to the routine clinical dosage regimen (180 mg loading dose (LD), 90 mg MD). Our study developed a population PK-PD model for ticagrelor and further simulation for dosage regimen was performed based on the final model. Compared to the current recommended dosage regimen (180 mg LD, 90 mg MD), our

History of Astronomy in Portugal: Theories, Institutions and Practices

NASA Astrophysics Data System (ADS)

Saraiva, Luis

2014-01-01

In Portugal, throughout its history, astronomy was developed in the context of the mathematical sciences. During the times of Portugal's Maritime Discoveries, astronomical navigation was based on spherical trigonometry, and therefore it was the mathematicians who taught astronomy to the pilots. During the 17th century, basic notions of astronomy were taught in mathematical courses in the University and in the main Jesuit colleges. This tradition continued in the 18th century, so it is no wonder that one of the most influent Portuguese astronomers during this period was the mathematician José Monteiro da Rocha. During the 19th century the new centres of science teaching, as the Polytechnic School in Lisbon, or the Polytechnic Academy in Oporto, developed astronomy teaching and research in the context of the mathematics subjects. The inheritors of these 19th century institutions, respectively the Faculties of Sciences of Lisbon and Oporto, upheld this tradition until the final decades of 20th century and continued to consider astronomy as a subject to be taught in their mathematics departments. This Meeting aims at outlining several perspectives on the history of astronomy in Portugal, particularly analysing its ties with mathematical sciences and astronomy applications. The Meeting is organised by the Museum of Science of the University of Lisbon (MCUL) with CMAF, CMUC, CMUP and the CIUHCT, and is included in CIM events. It is integrated in the commemorations of the International Year of Astronomy (IYA2009).

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.

PubMed

Zangen, David; Kaufman, Yotam; Zeligson, Sharon; Perlberg, Shira; Fridman, Hila; Kanaan, Moein; Abdulhadi-Atwan, Maha; Abu Libdeh, Abdulsalam; Gussow, Ayal; Kisslov, Irit; Carmel, Liran; Renbaum, Paul; Levy-Lahad, Ephrat

2011-10-07

XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. Most cases are unexplained but thought to be autosomal recessive. We elucidated the genetic basis of XX-GD in a highly consanguineous Palestinian family by using homozygosity mapping and candidate-gene and whole-exome sequencing. Affected females were homozygous for a 3 bp deletion (NM_016556.2, c.600_602del) in the PSMC3IP gene, leading to deletion of a glutamic acid residue (p.Glu201del) in the highly conserved C-terminal acidic domain. Proteasome 26S subunit, ATPase, 3-Interacting Protein (PSMC3IP)/Tat Binding Protein Interacting Protein (TBPIP) is a nuclear, tissue-specific protein with multiple functions. It is critical for meiotic recombination as indicated by the known role of its yeast ortholog, Hop2. Through the C terminus (not present in yeast), PSMC3IP also coactivates ligand-driven transcription mediated by estrogen, androgen, glucocorticoid, progesterone, and thyroid nuclear receptors. In cell lines, the p.Glu201del mutation abolished PSMC3IP activation of estrogen-driven transcription. Impaired estrogenic signaling can lead to ovarian dysgenesis both by affecting the size of the follicular pool created during fetal development and by failing to counteract follicular atresia during puberty. PSMC3IP joins previous genes known to be mutated in XX-GD, the FSH receptor, and BMP15, highlighting the importance of hormonal signaling in ovarian development and maintenance and suggesting a common pathway perturbed in isolated XX-GD. By analogy to other XX-GD genes, PSMC3IP is also a candidate gene for premature ovarian failure, and its role in folliculogenesis should be further investigated. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.

PubMed Central

Annerén, G; Andersson, M; Page, D C; Brown, L G; Berg, M; Läckgren, G; Gustavson, K H; de la Chapelle, A

1987-01-01

A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis. Images Fig. 1 Fig. 2 Fig. 3 Fig. 4 Fig. 5 PMID:2889356

Flora-On: Occurrence data of the vascular flora of mainland Portugal

PubMed Central

Pereira, Ana Júlia; Francisco, Ana; Porto, Miguel

2016-01-01

Abstract The Flora-On dataset currently includes 253,310 occurrence records for the class Embryopsidae (vascular plants), comprising data collated via the platform http://flora-on.pt/ relating to observation records of vascular plants across mainland Portugal. Observations are uploaded directly to the database primarily by experienced botanists and naturalists, typically on a weekly basis, and consist of geo-referenced data points for species (or infraspecific taxa) along with their date of observation and phenological state. The Flora-On project aims to compile and make publicly accessible chorological, ecological, morphological and photographic information for the entire vascular flora of Portugal. The project’s website offers powerful query and visualization capabilities, of which we highlight the probabilistic bioclimatic and phenological queries which operate based on the empirical density distributions of species in those variables. Flora-On was created and continues to be maintained by volunteers who are Associate members of Sociedade Portuguesa de Botânica (Botanical Society of Portugal). Given its focus on research-grade and current data, the Flora-On project represents a significant contribution to the knowledge of the present distribution and status of the Portuguese flora. PMID:27698587

Flora-On: Occurrence data of the vascular flora of mainland Portugal.

PubMed

Pereira, Ana Júlia; Francisco, Ana; Porto, Miguel

2016-01-01

The Flora-On dataset currently includes 253,310 occurrence records for the class Embryopsidae (vascular plants), comprising data collated via the platform http://flora-on.pt/ relating to observation records of vascular plants across mainland Portugal. Observations are uploaded directly to the database primarily by experienced botanists and naturalists, typically on a weekly basis, and consist of geo-referenced data points for species (or infraspecific taxa) along with their date of observation and phenological state. The Flora-On project aims to compile and make publicly accessible chorological, ecological, morphological and photographic information for the entire vascular flora of Portugal. The project's website offers powerful query and visualization capabilities, of which we highlight the probabilistic bioclimatic and phenological queries which operate based on the empirical density distributions of species in those variables. Flora-On was created and continues to be maintained by volunteers who are Associate members of Sociedade Portuguesa de Botânica (Botanical Society of Portugal). Given its focus on research-grade and current data, the Flora-On project represents a significant contribution to the knowledge of the present distribution and status of the Portuguese flora.

Parasites of marine, freshwater and farmed fishes of Portugal: a review.

PubMed

Eiras, Jorge da Costa

2016-01-01

An extensive literature review is made of the parasites in marine and freshwater fish in mainland Portugal, the Portuguese archipelagos of the Azores and Madeira, as well as in farmed fish. The host(s) of each parasite species, its location in the host, site of capture of the host, whenever possible, and all the available bibliographic references are described. The economic importance of some parasites and the zoonotic relevance of some parasitic forms are discussed. A general overview of the data is provided, and some research lines are suggested in order to increase and complement the current body of knowledge about the parasites of fish from Portugal.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative).

PubMed

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-10-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1.

Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

PubMed Central

Marcinkowska-Swojak, Malgorzata; Szczerbal, Izabela; Pausch, Hubert; Nowacka-Woszuk, Joanna; Flisikowski, Krzysztof; Dzimira, Stanislaw; Nizanski, Wojciech; Payan-Carreira, Rita; Fries, Ruedi; Kozlowski, Piotr; Switonski, Marek

2015-01-01

Although the disorder of sex development in dogs with female karyotype (XX DSD) is quite common, its molecular basis is still unclear. Among mutations underlying XX DSD in mammals are duplication of a long sequence upstream of the SOX9 gene (RevSex) and duplication of the SOX9 gene (also observed in dogs). We performed a comparative analysis of 16 XX DSD and 30 control female dogs, using FISH and MLPA approaches. Our study was focused on a region harboring SOX9 and a region orthologous to the human RevSex (CanRevSex), which was located by in silico analysis downstream of SOX9. Two highly polymorphic copy number variable regions (CNVRs): CNVR1 upstream of SOX9 and CNVR2 encompassing CanRevSex were identified. Although none of the detected copy number variants were specific to either affected or control animals, we observed that the average number of copies in CNVR1 was higher in XX DSD. No copy variation of SOX9 was observed. Our extensive studies have excluded duplication of SOX9 as the common cause of XX DSD in analyzed samples. However, it remains possible that the causative mutation is hidden in highly polymorphic CNVR1. PMID:26423656

Clinical features and management of 33 patients with 46,XX pure gonadal dysgenesis.

PubMed

Huang, He; Wang, Chun-Qing; Tian, Qin-Jie

2016-12-01

The objective of the study is to summarize the clinical characteristics of 33 patients' cohort (46,XX pure gonadal dysgenesis, 46,XX PGD), discuss the management, and propose treatment suggestions. Patients' information, medical history, and medical records were obtained. All patients were closely followed up. At the time of diagnosis, the patients presented 19.53 ± 3.60 years old, 165 ± 6.49 cm height, breast development of Tanner stage I, and infantile female genitalia. High level of follicle-stimulating hormone (87.41 ± 21.50 mIU/mL) and LH (27.10 ± 8.47 mIU/mL) and low level of E2 (8.85 ± 6.13 pg/mL) were observed. Individualized hormone replacement therapy (HRT) was initiated after diagnosis. After 2 years of treatment, all patients had obvious breast development; the uterus showed (2.38 ± 0.60) × (1.38 ± 0.70) × (1.38 ± 0.55) cm growth. The incidence of osteopenia changed from 69.70% to 22.22% and that of osteoporosis changed from 18.18% to 0. Dysgeminoma was found in one patient. We concluded that gonadal dysgenesis in 46,XX PGD causes secondary sexual characteristic absence, tendency of taller, osteoporosis, infertility, and sexual health problems. There is minor chance of tumor occurrence for the patients. Optimal care including HRT and close follow-up are required.

Toscana virus meningitis in Portugal, 2002-2005.

PubMed

Santos, L; Simões, J; Costa, R; Martins, S; Lecour, H

2007-06-01

Toscana virus infection is endemic in Italy, but has also been documented in other Mediterranean countries. Our aim was to investigate the occurrence of Toscana virus (TOSV) meningitis in children and young adults in a metropolitan area in the north of Portugal. Cerebrospinal fluid samples from 308 patients with the diagnosis of meningitis and with negative bacterial culture were tested for enteroviruses and herpesviruseses by reverse transcription PCR. Those samples that proved negative for enterovirus and herpesvirus were tested for Toscana virus with a commercial reverse transcription nested PCR assay. In total, we investigated 106 samples, collected between May and September during the four-year period between 2002 and 2005 from patients younger than 30 years old. Toscana virus was the cause of meningitis in six (5.6%) of the cases, three children and three young adults. All had a benign course and self-limited disease. Since a first case report of TOSV infection 1985 and another in 1996, both in foreign tourists, these six cases of Toscana virus meningitis are, to our knowledge, the first diagnosed in Portuguese inhabitants, and they underline the need for more studies on the prevalence of this virus in Portugal.

49 CFR 1242.73 - Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00).

Code of Federal Regulations, 2010 CFR

2010-10-01

... 49 Transportation 9 2010-10-01 2010-10-01 false Cleaning car interiors and freight lost and damaged-all other (accounts XX-53-70 and 51-53-00). 1242.73 Section 1242.73 Transportation Other... freight lost and damaged—all other (accounts XX-53-70 and 51-53-00). Separate common expenses on basis of...

Predicting Child Outcomes from Preschool Quality in Portugal

ERIC Educational Resources Information Center

Abreu-Lima, Isabel M. P.; Leal, Teresa B.; Cadima, Joana; Gamelas, Ana Madalena

2013-01-01

The main purpose of this study is to analyze whether quality of preschool classrooms relates to 4- and 5-year-old children developmental outcomes. The study was conducted in 60 classrooms in Porto Metropolitan Area, Portugal. Children (N = 215) were evaluated in the literacy, math, and behavior domains. Preschool quality was assessed through…

Early Intervention in Portugal: Family Support and Benefits

ERIC Educational Resources Information Center

Correia Leite, Carina Sofia; Da Silva Pereira, Ana Paula

2013-01-01

This study investigated the support and benefits of early intervention (EI) in families with children with special needs. Data were gathered through a written questionnaire, "Family Benefits Inventory," completed by 126 families with children with special needs supported by EI teams, with ages from six months to six years in Portugal.…

Clinical, cytogenetic, and molecular analysis with 46,XX male sex reversal syndrome: case reports.

PubMed

Gao, Xuefeng; Chen, Guian; Huang, Jing; Bai, Quan; Zhao, Nan; Shao, Minjie; Jiao, Liping; Wei, Yanling; Chang, Liang; Li, Dan; Yang, Liping

2013-03-01

To investigate the clinical characteristics of different categories of sex-reversed 46,XX individuals and their relationships with chromosomal karyotype and the SRY gene. Chromosome karyotyping for peripheral blood culture and multi-PCR and FISH were performed. Endocrinological data showed that their endocrine hormone levels were similar to that observed for Klinefelter syndrome, with higher FSH and LH levels and lower T levels. Chromosome karyotyping for peripheral blood culture revealed 46, XX complement for 11 males. Molecular studies showed that there were locus deletions at SY84, SY86, SY127, SY134, SY254 and SY255 in AZF on chromosome Y in 9 cases, with the SRY gene present at the terminus of the X chromosome short arm. In one case, besides 6 locus deletions in AZF, there was also SRY gene deletion. In another case, there were locus deletions only at SY254 and SY255, with SY84, SY86, SY127 SY134 loci and SRY present. The majority (10/11) of 46,XX males were SRY positive, with the SRY gene translocated into the terminus of the X chromosome short arm. These patients were caused mainly by an X/Y chromosomal inter-change during paternal meiosis, leading to the differentiation of primary gonads into testes. Only a single patient (1/11) was SRY-negative, in which there might be some unknown downstream genes involved in sex determination.

The Afrotropical Miomantis caffra Saussure 1871 and Miomantis paykullii Stal 1871: first records of alien mantid species in Portugal and Europe, with an updated checklist of Mantodea in Portugal (Insecta: Mantodea)

PubMed Central

2014-01-01

Abstract The recent growing interest on the Mantodea fauna of southern Europe and Portugal in particular, has enabled the discovery of two geographically separated populations of hitherto unknown species in Europe. Analysis of specimens shows that they belong to two Afrotropical mantids: Miomantis caffra Saussure, 1871 and Miomantis paykullii Stal, 1871, thus raising the number of known species in Europe to 39 and in Portugal to 11. While these are remarkable findings, they also represent the first alien mantis species recorded from this continent. As yet, these species appear to be confined to artificial humanised gardened areas but call for more attention to the problem of biological invasions and the need for better bio-security measures for the conservation of natural ecosystems. In the absence of recent revisionary work on the Mantodea of Portugal and given the need to provide an accessible identification tool, both a checklist and a key to species are provided for all species in the country. PMID:25425938

[Politicized sexualities: AIDS activism and sexual orientation in Portugal].

PubMed

Santos, Ana Cristina

2002-01-01

This article analyzes how both the Portuguese state and civil society have addressed the AIDS issue, focusing on participation by the lesbian, gay, bisexual, and transsexual community (LGBT) in the struggle against AIDS. The article begins by describing the situation of LGBT individuals in Portugal during the 1990s, when the Portuguese LGBT movement emerged and grew, and then characterizes the evolution of HIV/AIDS in Portugal, analyzing the relationship between civil society and sexuality in general and the situation of the epidemic in the country in particular, considering key facts, nongovernmental organizations, and state initiatives. Special attention is given to the role played by LGBT organizations in the struggle against HIV. Finally, the article reflects on the future of the struggle against both AIDS and discrimination in the 21st century, considering recent events in the country and the guidelines recommended by international policies.

Faunistic Inventory of Spheciformes Wasps at Three Protected Areas in Portugal

PubMed Central

Vieira, L. C.; Oliveira, N. G.; Brewster, C. C.; Gayubo, S. F.

2013-01-01

The importance of considering insects in the protection of biodiversity has been recently recognized. However, despite the importance of Spheciformes wasps (Hymenoptera: Ampulicidae, Sphecidae and Crabronidae) in natural ecosystems and their potential as bioindicators, the Spheciformes communities in Portugal (part of the European biodiversity hotspot) have rarely been studied, and data for Portuguese protected areas are scarce. The Spheciformes wasp communities at 3 protected areas in Portugal, Douro International Natural Park, Serras de Aire e Candeeiros Natural Park, and Paúl do Boquilobo Nature Reserve, were studied in 2000 and 2001. During the study, 134 species of Spheciformes belonging to 3 families, Ampulicidae, Sphecidae, and Crabronidae, were identified. The species collected constituted nearly 1/3 of the species known in the Iberian Peninsula, 42 were new records for Portugal. Additionally, several specimens of 6 potentially new species were collected. Douro International Natural Park had the highest species richness, followed by Serras de Aire e Candeeiros Natural Park and Paúl do Boquilobo Nature Reserve. All the protected areas studied had species that were found exclusively at an individual protected area and species that were found to be new records for Portugal. Based on the literature review of the geographic distribution, nidification types, and prey orders, it was found that most species collected had a Euroasiatic or Mediterranean distribution, species with fossorial habits predominated, and the orders/suborders of insects preyed upon by most species were Diptera, Orthoptera, Sternorrhyncha, and Auchenorrhyncha. This study underscores the importance of including the protected areas studied in the conservation of Spheciformes diversity and also suggests that insect diversity should be studied separately, as it does not necessarily follow the same patterns as other, more studied, groups. PMID:24738990

Hydro-meteorological extreme events in the 18th century in Portugal

NASA Astrophysics Data System (ADS)

Fragoso, Marcelo; João Alcoforado, Maria; Taborda, João Paulo

2013-04-01

The present work is carried out in the frame of the KLIMHIST PROJECT ("Reconstruction and model simulations of past climate in Portugal using documentary and early instrumental sources, 17th-19th century)", and is devoted to the study of hydro-meteorological extreme events during the last 350 years, in order to understand how they have changed in time and compare them with current analogues. More specifically, the results selected to this presentation will focus on some hydro-meteorological extreme events of the 18th century, like severe droughts, heavy precipitation episodes and windstorms. One of the most noteworthy events was the winterstorm Bárbara (3rd to 6th December 1739), already studied in prior investigations (Taborda et al, 2004; Pfister et al, 2010), a devastating storm with strong impacts in Portugal caused by violent winds and heavy rainfall. Several other extreme events were detected by searching different documentary archives, including individual, administrative and ecclesiastic sources. Moreover, a more detailed insight to the 1783-1787 period will be made with regard the Lisbon region, taking into consideration the availability of information for daily meteorological observations as well as documentary evidences, like descriptions from Gazeta de Lisboa, the periodic with more continuous publication in the 18thcentury. Key-words: Instrumental data, Documentary data, Extreme events, Klimhist Project, Portugal References Pfister, C., Garnier, E., Alcoforado, M.J., Wheeler, D. Luterbacher, J. Nunes, M.F., Taborda, J.P. (2010) The meteorological framework and the cultural memory of three severe winter-storms in early eighteenth-century Europe, Climatic Change, 101, 1-2, 281-310 Taborda, JP; Alcoforado, MJ and Garcia, JC (2004) O Clima do Sul de Portugal no Séc.XVIII, Centro de Estudos Geográficos, Área de de Investigação de Geo-Ecologia, relatório no 2

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2012 CFR

2012-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2012-10-01 2012-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2013 CFR

2013-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2013-10-01 2013-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2011 CFR

2011-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2011-10-01 2011-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2014 CFR

2014-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2014-10-01 2014-10-01 false Computers and data processing equipment (account...

49 CFR 1242.46 - Computers and data processing equipment (account XX-27-46).

Code of Federal Regulations, 2010 CFR

2010-10-01

... REPORTS SEPARATION OF COMMON OPERATING EXPENSES BETWEEN FREIGHT SERVICE AND PASSENGER SERVICE FOR RAILROADS 1 Operating Expenses-Equipment § 1242.46 Computers and data processing equipment (account XX-27-46... 49 Transportation 9 2010-10-01 2010-10-01 false Computers and data processing equipment (account...

Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.

PubMed

Wu, Qiu-Yue; Li, Na; Li, Wei-Wei; Li, Tian-Fu; Zhang, Cui; Cui, Ying-Xia; Xia, Xin-Yi; Zhai, Jin-Sheng

2014-08-28

To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding in lymphocytes and Fluorescence in situ hybridization (FISH) were performed. Genomic DNA from peripheral blood of the patients using QIAamp DNA Blood Kits was extracted. The three discrete regions, AZFa, AZFb and AZFc, located on the long arm of the Y chromosome, were performed by multiplex PCRs(Polymerase Chain Reaction) amplification. The set of PCR primers for the diagnosis of microdeletion of the AZFa, AZFb and AZFc region included: sY84, sY86, sY127, sY134, sY254, sY255, SRY and ZFX/ZFY. Our five patients had a lower body height. Physical examination revealed that their testes were small in volume, soft in texture and normal penis. Semen analyses showed azoospermia. All patients had a higher follicle-stimulating hormone(FSH), Luteinizing Hormone(LH) level, lower free testosterone, testosterone level and normal Estradiol, Prolactin level. Karyotype analysis of all patients confirmed 46, XX karyotype, and FISH analysis showed that SRY gene were positive and translocated to Xp. Molecular analysis revealed that the SRY gene were present, and the AZFa, AZFb and AZFc region were absent. This study adds cases on the five new 46, XX male individuals with SRY-positive and further verifies the view that the presence of SRY gene and the absence of major regions in Y chromosome should lead to the expectance of a completely masculinised phenotype, abnormal hormone levels and infertility.

Determinants of birth weight in Portugal: 1988 to 2011.

PubMed

Fuster, Vicente; Santos, Carlota

2016-01-01

The objective of this paper is to analyse temporal birth weight variation, its relationship to the frequency of premature births in Portugal, and the influence of native and immigrant mothers' characteristics as well as to determine the possible existence of a pattern of temporal change in birth weight in the Iberian Peninsula as a whole. Individual mother-child data from the Portuguese National Institute of Statistics regarding live births (N = 2,661,542) permitted an analysis, for the first time, of weight at birth in Portugal from a bio-demographic perspective. The results obtained show that from 1988 to 2011 there was a gradual decline in the average weight at birth in Portugal that may be related to shifts in the duration of gestation. An initial rapid decline in the relative frequency of post-term births took place, followed by small variations from 1995 on. Logistic regressions indicated a pattern unaffected by maternal origin or the sex of the newborn. With regard to weeks of gestation, the odds values obtained were < 1 when the reference category was < 28 weeks. For this factor, no significant differences were found in relation to the mother's origin. Portuguese mothers over 35 years were associated with a higher incidence of low birth weight. Regardless of maternal origin, being a newborn of parity 1, and with the mother not in a couple, resulted in unfavourable outcomes with regard to low birth weight. On the other hand, long gestation periods and having secondary or university education constituted a protective factor.

Origin and Population Dynamics of a Novel HIV-1 Subtype G Clade Circulating in Cape Verde and Portugal

PubMed Central

Guimarães, Monick L.; Morgado, Mariza G.; Bello, Gonzalo

2015-01-01

The human immunodeficiency virus type 1 (HIV-1) subtype G is the most prevalent and second most prevalent HIV-1 clade in Cape Verde and Portugal, respectively; but there is no information about the origin and spatiotemporal dispersal pattern of this HIV-1 clade circulating in those countries. To this end, we used Maximum Likelihood and Bayesian coalescent-based methods to analyze a collection of 578 HIV-1 subtype G pol sequences sampled throughout Portugal, Cape Verde and 11 other countries from West and Central Africa over a period of 22 years (1992 to 2013). Our analyses indicate that most subtype G sequences from Cape Verde (80%) and Portugal (95%) branched together in a distinct monophyletic cluster (here called GCV-PT). The GCV-PT clade probably emerged after a single migration of the virus out of Central Africa into Cape Verde between the late 1970s and the middle 1980s, followed by a rapid dissemination to Portugal a couple of years later. Reconstruction of the demographic history of the GCV-PT clade circulating in Cape Verde and Portugal indicates that this viral clade displayed an initial phase of exponential growth during the 1980s and 1990s, followed by a decline in growth rate since the early 2000s. Our data also indicate that during the exponential growth phase the GCV-PT clade recombined with a preexisting subtype B viral strain circulating in Portugal, originating the CRF14_BG clade that was later disseminated to Spain and Cape Verde. Historical and recent human population movements between Angola, Cape Verde and Portugal probably played a key role in the origin and dispersal of the GCV-PT and CRF14_BG clades. PMID:25993094

Origin and Population Dynamics of a Novel HIV-1 Subtype G Clade Circulating in Cape Verde and Portugal.

PubMed

de Pina-Araujo, Isabel Inês M; Delatorre, Edson; Guimarães, Monick L; Morgado, Mariza G; Bello, Gonzalo

2015-01-01

The human immunodeficiency virus type 1 (HIV-1) subtype G is the most prevalent and second most prevalent HIV-1 clade in Cape Verde and Portugal, respectively; but there is no information about the origin and spatiotemporal dispersal pattern of this HIV-1 clade circulating in those countries. To this end, we used Maximum Likelihood and Bayesian coalescent-based methods to analyze a collection of 578 HIV-1 subtype G pol sequences sampled throughout Portugal, Cape Verde and 11 other countries from West and Central Africa over a period of 22 years (1992 to 2013). Our analyses indicate that most subtype G sequences from Cape Verde (80%) and Portugal (95%) branched together in a distinct monophyletic cluster (here called G(CV-PT)). The G(CV-PT) clade probably emerged after a single migration of the virus out of Central Africa into Cape Verde between the late 1970s and the middle 1980s, followed by a rapid dissemination to Portugal a couple of years later. Reconstruction of the demographic history of the G(CV-PT) clade circulating in Cape Verde and Portugal indicates that this viral clade displayed an initial phase of exponential growth during the 1980s and 1990s, followed by a decline in growth rate since the early 2000s. Our data also indicate that during the exponential growth phase the G(CV-PT) clade recombined with a preexisting subtype B viral strain circulating in Portugal, originating the CRF14_BG clade that was later disseminated to Spain and Cape Verde. Historical and recent human population movements between Angola, Cape Verde and Portugal probably played a key role in the origin and dispersal of the G(CV-PT )and CRF14_BG clades.

The Distribution and Cellular Lineages of XX and XY Cells in Gonads Associated with Ovotesticular Disorder of Sexual Development.

PubMed

Nishina-Uchida, Noriko; Fukuzawa, Ryuji; Ishii, Tomohiro; Anaka, Matthew R; Hasegawa, Tomonobu; Hasegawa, Yukihiro

2016-01-01

Individuals with a 46,XX/46,XY karyotype are categorized as ovotesticular disorder of sexual development (ODSD) and have gonads with either an ovary on one side and a testis on the other side or a mixed ovotestis. To examine the distribution of 46,XX and 46,XY cells in gonads of 3 patients with ODSD, FISH for X and Y chromosomes and immunohistochemistry for SOX9 and FOXL2 were carried out. FISH analysis showed that XX signals were present in Sertoli cells in the seminiferous tubules, while cells containing Y signals were seen in epithelia of ovarian follicles. The immunolabeling of SOX9 and FOXL2 in the seminiferous tubules and ovarian follicles was mutually exclusive, irrespective of the presence of reversed sex chromosomes. We therefore suggest that the fate of individual gonadal epithelial cells is determined not only by the sex chromosomes but also by local environmental factors. © 2016 S. Karger AG, Basel.

Tuberculosis inequalities and socio-economic deprivation in Portugal.

PubMed

Apolinário, D; Ribeiro, A I; Krainski, E; Sousa, P; Abranches, M; Duarte, R

2017-07-01

To analyse the geographical distribution of tuberculosis (TB) in Portugal and estimate the association between TB and socio-economic deprivation. An ecological study at the municipality level using TB notifications for 2010-2014 was conducted. Spatial Bayesian models were used to calculate smoothed standardised notification rates, identify high- and low-risk areas and estimate the association between TB notification and the European Deprivation Index (EDI) for Portugal and its component variables. Standardised notification rates ranged from 4.41 to 76.44 notifications per 100 000 population. Forty-one high-risk and 156 low-risk municipalities were identified. There was no statistically significant association between TB notification rate and the EDI, but some of its variables, such as the proportion of manual workers and the percentage unemployed, were significantly and directly associated with TB notification, whereas the variable 'proportion of residents with low education level' showed an inverse relationship. Wide inequalities in TB notification rates were observed, and some areas continued to exhibit high TB notification rates. We found significant associations between TB and some socio-economic factors of the EDI.

Assessment of treatment systems for highway runoff pollution control in Portugal.

PubMed

Barbosa, A E; Fernandes, J N

2009-01-01

Treatment systems for highway runoff pollution control are now common structures for environmental impacts reduction in Portugal. Such systems must be monitored and its performance periodically assessed, in order to understand if they are accomplishing the targets for environmental protection. Wise management decisions must incorporate the soundness of the project, the construction and maintenance costs, and the ability of the system to reduce the pollution to the level required for environmental protection. To gather, organize and analyse all the existing information concerning the constructed treatment systems, their operation, maintenance and efficiency were understood as a priority by the Portuguese Roads' Institute. The authors of this article were responsible for this 3 years study that finished in May 2008. A total of 27 different systems, corresponding to 13 different project types, located in different places in Portugal have been characterized and evaluated. Several conclusions could be drawn from the evaluation and recommendations were produced concerning the project, the construction and operation phases and the monitoring activities. The recommendations concern tasks to be performed and information that should be gathered and presented to the Portuguese Road's Institute. It is expected that these indications will contribute to improve the future practice in Portugal.

Wide spectrum of NR5A1‐related phenotypes in 46,XY and 46,XX individuals

PubMed Central

Domenice, Sorahia; Machado, Aline Zamboni; Ferreira, Frederico Moraes; Ferraz‐de‐Souza, Bruno; Lerario, Antonio Marcondes; Lin, Lin; Nishi, Mirian Yumie; Gomes, Nathalia Lisboa; da Silva, Thatiana Evelin; Silva, Rosana Barbosa; Correa, Rafaela Vieira; Montenegro, Luciana Ribeiro; Narciso, Amanda; Costa, Elaine Maria Frade; Achermann, John C

2016-01-01

Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1‐related phenotypes may range from disorders of sex development (DSD) to oligo/azoospermia, and in 46,XX individuals, from 46,XX ovotesticular and testicular DSD to primary ovarian insufficiency (POI). The most common 46,XY phenotype is atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives. Notably, an undervirilized external genitalia is frequently seen at birth, while spontaneous virilization may occur later, at puberty. In 46,XX individuals, NR5A1 mutations are a rare genetic cause of POI, manifesting as primary or secondary amenorrhea, infertility, hypoestrogenism, and elevated gonadotropin levels. Mothers and sisters of 46,XY DSD patients carrying heterozygous NR5A1 mutations may develop POI, and therefore require appropriate counseling. Moreover, the recurrent heterozygous p.Arg92Trp NR5A1 mutation is associated with variable degrees of testis development in 46,XX patients. A clear genotype‐phenotype correlation is not seen in patients bearing NR5A1 mutations, suggesting that genetic modifiers, such as pathogenic variants in other testis/ovarian‐determining genes, may contribute to the phenotypic expression. Here, we review the published literature on NR5A1‐related disease, and discuss our findings at a single tertiary center in Brazil, including ten novel NR5A1 mutations identified in 46,XY DSD patients. The ever‐expanding phenotypic range associated with NR5A1 variants in XY and XX individuals confirms its pivotal role in reproductive biology, and should alert clinicians to the possibility of NR5A1 defects in a variety of phenotypes presenting with gonadal

XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis

PubMed Central

Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P.; Voskuhl, Rhonda R.

2014-01-01

Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease. PMID:24550311

XY sex chromosome complement, compared with XX, in the CNS confers greater neurodegeneration during experimental autoimmune encephalomyelitis.

PubMed

Du, Sienmi; Itoh, Noriko; Askarinam, Sahar; Hill, Haley; Arnold, Arthur P; Voskuhl, Rhonda R

2014-02-18

Women are more susceptible to multiple sclerosis (MS) and have more robust immune responses than men. However, men with MS tend to demonstrate a more progressive disease course than women, suggesting a disconnect between the severity of an immune attack and the CNS response to a given immune attack. We have previously shown in an MS model, experimental autoimmune encephalomyelitis, that autoantigen-sensitized XX lymph node cells, compared with XY, are more encephalitogenic. These studies demonstrated an effect of sex chromosomes in the induction of immune responses, but did not address a potential role of sex chromosomes in the CNS response to immune-mediated injury. Here, we examined this possibility using XX versus XY bone marrow chimeras reconstituted with a common immune system of one sex chromosomal type. We found that experimental autoimmune encephalomyelitis mice with an XY sex chromosome complement in the CNS, compared with XX, demonstrated greater clinical disease severity with more neuropathology in the spinal cord, cerebellum, and cerebral cortex. A candidate gene on the X chromosome, toll-like receptor 7, was then examined. Toll-like receptor 7 expression in cortical neurons was higher in mice with XY compared with mice with XX CNS, consistent with the known neurodegenerative role for toll-like receptor 7 in neurons. These results suggest that sex chromosome effects on neurodegeneration in the CNS run counter to effects on immune responses, and may bear relevance to the clinical enigma of greater MS susceptibility in women but faster disability progression in men. This is a demonstration of a direct effect of sex chromosome complement on neurodegeneration in a neurological disease.

The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.

PubMed

Jain, Manish; V, Veeramohan; Chaudhary, Isha; Halder, Ashutosh

2013-07-01

The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-07-18

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis.

Unique sex chromosome systems in Ellobius: How do male XX chromosomes recombine and undergo pachytene chromatin inactivation?

PubMed Central

Matveevsky, Sergey; Bakloushinskaya, Irina; Kolomiets, Oxana

2016-01-01

Most mammalian species have heteromorphic sex chromosomes in males, except for a few enigmatic groups such as the mole voles Ellobius, which do not have the Y chromosome and Sry gene. The Ellobius (XX ♀♂) system of sex chromosomes has no analogues among other animals. The structure and meiotic behaviour of the two X chromosomes were investigated for males of the sibling species Ellobius talpinus and Ellobius tancrei. Their sex chromosomes, despite their identical G-structure, demonstrate short synaptic fragments and crossover-associated MLH1 foci in both telomeric regions only. The chromatin undergoes modifications in the meiotic sex chromosomes. SUMO-1 marks a small nucleolus-like body of the meiotic XX. ATR and ubiH2A are localized in the asynaptic area and the histone γH2AFX covers the entire XX bivalent. The distribution of some markers of chromatin inactivation differentiates sex chromosomes of mole voles from those of other mammals. Sex chromosomes of both studied species have identical recombination and meiotic inactivation patterns. In Ellobius, similar chromosome morphology masks the functional heteromorphism of the male sex chromosomes, which can be seen at meiosis. PMID:27425629

A rare 47 XXY/46 XX mosaicism with clinical features of Klinefelter syndrome.

PubMed

Mohd Nor, Noor Shafina; Jalaludin, Muhammad Yazid

2016-01-01

47 XXY/46 XX mosaicism with characteristics suggesting Klinefelter syndrome is very rare and at present, only seven cases have been reported in the literature. We report an Indian boy diagnosed as variant of Klinefelter syndrome with 47 XXY/46 XX mosaicism at age 12 years. He was noted to have right cryptorchidism and chordae at birth, but did not have surgery for these until age 3 years. During surgery, the right gonad was atrophic and removed. Histology revealed atrophic ovarian tissue. Pelvic ultrasound showed no Mullerian structures. There was however no clinical follow up and he was raised as a boy. At 12 years old he was re-evaluated because of parental concern about his 'female' body habitus. He was slightly overweight, had eunuchoid body habitus with mild gynaecomastia. The right scrotal sac was empty and a 2mls testis was present in the left scrotum. Penile length was 5.2 cm and width 2.0 cm. There was absent pubic or axillary hair. Pronation and supination of his upper limbs were reduced and x-ray of both elbow joints revealed bilateral radioulnar synostosis. The baseline laboratory data were LH < 0.1 mIU/ml, FSH 1.4 mIU/ml, testosterone 0.6 nmol/L with raised estradiol, 96 pmol/L. HCG stimulation test showed poor Leydig cell response. The karyotype based on 76 cells was 47 XXY[9]/46 XX[67] with SRY positive. Laparoscopic examination revealed no Mullerian structures. Insisting on an adequate number of cells (at least 50) to be examined during karyotyping is important so as not to miss diagnosing mosaicism.

Imipenem Resistance in Clostridium difficile Ribotype 017, Portugal

PubMed Central

Isidro, Joana; Santos, Andrea; Nunes, Alexandra; Borges, Vítor; Silva, Catarina; Vieira, Luís; Mendes, Aristides L.; Serrano, Mónica; Henriques, Adriano O.; Gomes, João Paulo

2018-01-01

We describe imipenem-resistant and imipenem-susceptible clinical isolates of Clostridium difficile ribotype 017 in Portugal. All ribotype 017 isolates carried an extra penicillin-binding protein gene, pbp5, and the imipenem-resistant isolates had additional substitutions near the transpeptidase active sites of pbp1 and pbp3. These clones could disseminate and contribute to imipenem resistance. PMID:29553322

Sex determination and disorders of sex development according to the revised nomenclature and classification in 46,XX individuals.

PubMed

Kousta, Eleni; Papathanasiou, Asteroula; Skordis, Nicos

2010-01-01

There have been considerable advances concerning understanding of the early and later stages of ovarian development; a number of genes have been implicated and their mutations have been associated with developmental abnormalities. The most important genes controlling the initial phase of gonadal development, identical in females and males, are Wilms' tumor suppressor 1 (WT1) and steroidogenic factor 1 (SF1). Four genes are likely to be involved in the subsequent stages of ovarian development (WNT4, DAX1, FOXL2 and RSPO1), but none is yet proven to be the ovarian determining factor. Changes in nomenclature and classification were recently proposed in order to incorporate genetic advances and substitute gender-based diagnostic labels in terminology. The term "disorders of sex development" (DSD) is proposed to substitute the previous term "intersex disorders". Three main categories have been used to describe DSD in the 46,XX individual: 1) disorders of gonadal (ovarian) development: ovotesticular DSD, previously named true hermaphroditism, testicular DSD, previously named XX males, and gonadal dysgenesis; 2) disorders related to androgen excess (congenital adrenal hyperplasia, aromatase deficiency and P450 oxidoreductase deficiency); and 3) other rare disorders. In this mini-review, recent advances concerning development of the genital system in 46,XX individuals and related abnormalities are discussed. Basic embryology of the ovary and molecular pathways determining ovarian development are reviewed, focusing on mutations disrupting normal ovarian development. Disorders of sex development according to the revised nomenclature and classification in 46,XX individuals are summarized, including genetic progress in the field.

78 FR 10003 - Proposed Collection; Comment Request for Notice 2009-XX (NOT-151370-08)

Federal Register 2010, 2011, 2012, 2013, 2014

2013-02-12

... comments concerning Notice 2009-XX, Credit for Carbon Dioxide Sequestration under Section 45Q. [email protected] . SUPPLEMENTARY INFORMATION: Title: Credit for Carbon Dioxide Sequestration under Section... carbon dioxide sequestration (CO 2 sequestration credit) under Sec. 45Q of the Internal Revenue Code...

African horse sickness in Portugal: a successful eradication programme.

PubMed Central

Portas, M.; Boinas, F. S.; Oliveira E Sousa, J.; Rawlings, P.

1999-01-01

African horse sickness (AHS) was diagnosed for the first time in southern Portugal in autumn 1989, following outbreaks in Spain. AHS virus presence was confirmed by virus isolation and serotyping. An eradication campaign with four sanitary zones was set up by Central Veterinary Services in close collaboration with private organizations. Vaccination began on 6 October. In February 1990, vaccination was extended to all Portuguese equines (170000 animals). There were 137 outbreaks on 104 farms: 206 of the equidae present died (16%) or were slaughtered (14%); 81.5% were horses, 10.7% were donkeys and 7.8% were mules. Clinical AHS occurred more frequently in horses than donkeys and mules. In the vaccinated population, 82 animals (62.2% horses and 37.8% mules and donkeys), died or were slaughtered due to suspected or confirmed AHS. One year after ending vaccination, December 1991, Portugal was declared free of AHS. Cost of eradication was US$1955513 (US$11.5/Portuguese equine). PMID:10579455

Patterns of glucose lowering drugs utilization in Portugal and in the Netherlands. Trends over time.

PubMed

Torre, Carla; Guerreiro, José; de Oliveira Martins, Sofia; Raposo, João Filipe; Martins, Ana Paula; Leufkens, Hubert

2015-12-01

To compare the temporal trends in the consumption patterns of glucose lowering drugs (GLD) between Portugal and the Netherlands from 2004 to 2013 and to examine possible reasons behind the cross-national variation found. All GLD (ATC pharmacological subgroup A10B) were selected for analysis. Consumption data were obtained for the 10-year period. Portuguese and Dutch drug estimates were obtained from nationwide databases. The consumption of GLD increased in Portugal from 52.9 defined daily dose per 1000 inhabitants per day (DHD) in 2004 to 70.0 DHD in 2013 and in the Netherlands from 44.9 DHD in 2004 to 50.7 DHD in 2013. In Portugal, the use of fixed-dose combinations, especially with dipeptidyl peptidase-4 inhibitors (DPP-4) increased remarkably and in 2013 represented almost a quarter of total GLD consumption. In the Netherlands, the use of combinations was residual. The consumption of GLD rose over the 10-year period in both countries. However, Portuguese overall consumption and costs of GLD were higher. The differentially rapid uptake of DPP-4 inhibitors in Portugal was the main driver of the cost difference. Copyright © 2015 Primary Care Diabetes Europe. Published by Elsevier Ltd. All rights reserved.

Science Policy and the Internationalisation of Research in Portugal

ERIC Educational Resources Information Center

Patricio, Maria Teresa

2010-01-01

This article will examine Portuguese and European science and higher education policies and their impact on international collaborations. It will do so by looking at two key indicators: international academic mobility and the coauthored international scientific publications. The data show Portugal as an attractive country for foreign students and…

School-Based Sexuality Education in Portugal: Strengths and Weaknesses

ERIC Educational Resources Information Center

Rocha, Ana Cristina; Leal, Cláudia; Duarte, Cidália

2016-01-01

Portugal, like many other countries, faces obstacles regarding school-based sexuality education. This paper explores Portuguese schools' approaches to implementing sexuality education at a local level, and provides a critical analysis of potential strengths and weaknesses. Documents related to sexuality education in a convenience sample of 89…

Space Radar Image of Lisbon, Portugal

NASA Technical Reports Server (NTRS)

1994-01-01

This radar image of Lisbon, Portugal illustrates the different land use patterns that are present in coastal Portugal. Lisbon, the national capital, lies on the north bank of the Rio Tejo where the river enters the Atlantic Ocean. The city center appears as the bright area in the center of the image. The green area west of the city center is a large city park called the Parque Florestal de Monsanto. The Lisbon Airport is visible east of the city. The Rio Tejo forms a large bay just east of the city. Many agricultural fields are visible as a patchwork pattern east of the bay. Suburban housing can be seen on the southern bank of the river. Spanning the river is the Ponte 25 de Abril, a large suspension bridge similar in architecture to San Francisco's Golden Gate Bridge. The image was acquired on April 19, 1994 and is centered at 38.8 degrees north latitude, 9.2 degrees west longitude. North is towards the upper right. The image is 50 kilometers by 30 kilometers (31 miles by 19 miles). The colors in this image represent the following radar channels and polarizations: red is L-band, horizontally transmitted and received; green is L-band, horizontally transmitted and vertically received; and blue is C-band, horizontally transmitted and vertically received. SIR-C/X-SAR, a joint mission of the German, Italian, and the United States space agencies, is part of NASA's Mission to Planet Earth.

Atomic calculations for the Fe XX X-ray lines

NASA Technical Reports Server (NTRS)

Mason, H. E.; Bhatia, A. K.

1983-01-01

The atomic data presented here and in Bhatia and Mason (1980) allow the calculation of theoretical intensity ratios for all the EUV, UV, and X-ray lines from Fe XX. Tabulations are presently given for the transitions between levels in the 2s2 2p3, 2s2 2p2 3s, and 2s2 2p2 3d configurations of Fe(19+), and electron collision strengths are calculated by means of the 'distorted wave' approximation. In addition to the theoretical X-ray line intensity ratios, new spectral line identifications from a solar flare are presented.

Identification of SOX3 as an XX male sex reversal gene in mice and humans.

PubMed

Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

2011-01-01

Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome-linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box-containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad.

Identification of SOX3 as an XX male sex reversal gene in mice and humans

PubMed Central

Sutton, Edwina; Hughes, James; White, Stefan; Sekido, Ryohei; Tan, Jacqueline; Arboleda, Valerie; Rogers, Nicholas; Knower, Kevin; Rowley, Lynn; Eyre, Helen; Rizzoti, Karine; McAninch, Dale; Goncalves, Joao; Slee, Jennie; Turbitt, Erin; Bruno, Damien; Bengtsson, Henrik; Harley, Vincent; Vilain, Eric; Sinclair, Andrew; Lovell-Badge, Robin; Thomas, Paul

2010-01-01

Sex in mammals is genetically determined and is defined at the cellular level by sex chromosome complement (XY males and XX females). The Y chromosome–linked gene sex-determining region Y (SRY) is believed to be the master initiator of male sex determination in almost all eutherian and metatherian mammals, functioning to upregulate expression of its direct target gene Sry-related HMG box–containing gene 9 (SOX9). Data suggest that SRY evolved from SOX3, although there is no direct functional evidence to support this hypothesis. Indeed, loss-of-function mutations in SOX3 do not affect sex determination in mice or humans. To further investigate Sox3 function in vivo, we generated transgenic mice overexpressing Sox3. Here, we report that in one of these transgenic lines, Sox3 was ectopically expressed in the bipotential gonad and that this led to frequent complete XX male sex reversal. Further analysis indicated that Sox3 induced testis differentiation in this particular line of mice by upregulating expression of Sox9 via a similar mechanism to Sry. Importantly, we also identified genomic rearrangements within the SOX3 regulatory region in three patients with XX male sex reversal. Together, these data suggest that SOX3 and SRY are functionally interchangeable in sex determination and support the notion that SRY evolved from SOX3 via a regulatory mutation that led to its de novo expression in the early gonad. PMID:21183788

Research Management in Portugal: A Quest for Professional Identity

ERIC Educational Resources Information Center

Trindade, Margarida; Agostinho, Marta

2014-01-01

Research managers at science-intensive institutions appear as a continuously evolving group of professionals whose identity is somewhat fragmented, even to themselves. In Portugal, specialized research manager roles have rapidly emerged over the last years alongside the development of a small but consolidated scientific system. In order to get an…

Case of 46,XX/47,XY, +21 chimerism in a newborn infant with ambiguous genitalia

DOE Office of Scientific and Technical Information (OSTI.GOV)

Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Ei-ichi

The authors describe the whole-body chimerism in a newborn infant with small phallus, pseudo-vaginal perineal hypospadias, and a bifid scrotum containing gonads. The human testis determining factor gene (SRY) was detected by PCR amplification. GTG-banding chromosome analysis in peripheral blood lymphocytes and cultured fibroblasts derived from right cubital skin showed a 46,XX/47,XY, +21 karyotype. Their ratios in each cell line were 294:5 and 178:7, respectively. QFQ-banding chromosome analysis documented 3 heteromorphic satellites on trisomic chromsomes 21 in the 47,XY,+21 cell line and a homozygous satellite pattern in the 46,XX cell line. Heteromorphic patterns of chromsomes 4, 13, 14, and 22more » were also different between the two cell lines. To our knowledge, such disomy/trisomy chimeras have not been described previously. 10 refs., 3 figs.« less

Low Adherence to Mediterranean Diet in Portugal: Pregnant Women Nutrition in Portugal and its Repercussions.

PubMed

Pereira-da-Silva, Luis; Pinto, Elisabete

2016-10-01

Portuguese population is drifting away from the Mediterranean diet-like pattern. In this context, the current nutritionalstatus of women of childbearing age and of pregnant Portuguese women and their growing fetuses is critically reviewed. A narrative critical review was performed on recent published high quality studies assessing diet and nutritional status of women of childbearing age and pregnant women and its influence on the nutritional status of their offspring. Data from five multinational ecological studies that included Portugal, two national official surveys on food availability, seven national studies on the diet and nutritional status of women of childbearing age and pregnant women, and five national studies on the effect of nutritional maternal factors on their growing fetuses were selected and analyzed. The prevalence of overweight/obesity has dramatically increased in Portuguese women of childbearing age and pregnant women, associated with the described trend of low adherence to Mediterranean diet. Variations in energy and macronutrients intakes during pregnancy seem to have no significantly impact on the nutritional status of growing fetuses. On contrary, pre-pregnancy overweight/obesity has been associated with increased offspring adiposity at birth, and an excessive gestational weight gain may be associated with offspring's overweight status in childhood. Factors potentially contributing to low adherence to the Mediterranean diet, deserving further investigation, include European Union agriculture policies that have implemented the production of non-Mediterranean food groups at low cost, and insufficient financial capacity to afford foods of quality reported by Portuguese population. Retrieving traditional Mediterranean dietary habits should be incorporated into strategies for prevention and treatment ofoverweight/obesity in Portugal, especially in women of childbearing age.

Obtaining highly excited eigenstates of the localized XX chain via DMRG-X

NASA Astrophysics Data System (ADS)

Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A.; Sondhi, S. L.

2017-10-01

We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition. This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'.

Detection of the testis determining factor in an XX man.

PubMed

Fukutani, K; Kajiwara, T; Nagafuchi, S; Nakahori, Y; Nakagome, Y

1993-01-01

An XX male patient was examined for the presence of 25 loci on the Y chromosome. Only 2 loci, the proximal border of the pseudoautosomal region Y and the sex determining region Y, were detected in this patient. The other 23 loci, including the zinc finger protein Y, were absent. We presume that a crossing over between the X and Y chromosomes occurred at the region proximal to the sex determining region Y but distal to the zinc finger protein Y during meiosis of the father.

Establishment of heart teams in Portugal.

PubMed

Sousa Uva, M; Leite Moreira, A; Gavina, C; Pereira, H; Lopes, M G

2014-01-01

Whenever several therapeutic options exist, multidisciplinary decision-making is beneficial for the patient and for society at large. The main obstacles to the establishment of heart teams in Portugal are organizational and logistical. Implementing a heart team approach entails definition of the situations requiring multidisciplinary discussion, creation of clear lines of communication, written protocols and obtaining patient informed consent. The European Society of Cardiology guidelines define the clinical scenarios where intervention of the heart team is recommended. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Testing continuous earthquake detection and location in Alentejo (South Portugal) by waveform coherency analysis

NASA Astrophysics Data System (ADS)

Matos, Catarina; Grigoli, Francesco; Cesca, Simone; Custódio, Susana

2015-04-01

In the last decade a permanent seismic network of 30 broadband stations, complemented by dense temporary deployments, covered Portugal. This extraordinary network coverage enables now the computation of a high-resolution image of the seismicity of Portugal, which in turn will shed light on the seismotectonics of Portugal. The large data volumes available cannot be analyzed by traditional time-consuming manual location procedures. In this presentation we show first results on the automatic detection and location of earthquakes occurred in a selected region in the south of Portugal Our main goal is to implement an automatic earthquake detection and location routine in order to have a tool to quickly process large data sets, while at the same time detecting low magnitude earthquakes (i.e., lowering the detection threshold). We present a modified version of the automatic seismic event location by waveform coherency analysis developed by Grigoli et al. (2013, 2014), designed to perform earthquake detections and locations in continuous data. The event detection is performed by continuously computing the short-term-average/long-term-average of two different characteristic functions (CFs). For the P phases we used a CF based on the vertical energy trace, while for S phases we used a CF based on the maximum eigenvalue of the instantaneous covariance matrix (Vidale 1991). Seismic event detection and location is obtained by performing waveform coherence analysis scanning different hypocentral coordinates. We apply this technique to earthquakes in the Alentejo region (South Portugal), taking advantage from a small aperture seismic network installed in the south of Portugal for two years (2010 - 2011) during the DOCTAR experiment. In addition to the good network coverage, the Alentejo region was chosen for its simple tectonic setting and also because the relationship between seismicity, tectonics and local lithospheric structure is intriguing and still poorly understood. Inside

Technological Specialisation Courses in Portugal: Description and Suggested Improvements

ERIC Educational Resources Information Center

da Costa, Nilza Maria Vilhena Nunes; Simoes, Ana Raquel; Pereira, Giselia Antunes; Pombo, Lucia

2009-01-01

This study is a part of the "Post-secondary Vocational Training in Portugal Project: from a description through to suggestions to improve training quality", which ran from 2003 to 2006. This article, which makes use of data obtained from interviews with Directors of Schools which offer technological specialisation courses (CETs) and from…

Trends in gastric cancer mortality and in the prevalence of Helicobacter pylori infection in Portugal.

PubMed

Morais, Samantha; Ferro, Ana; Bastos, Ana; Castro, Clara; Lunet, Nuno; Peleteiro, Bárbara

2016-07-01

Portugal has the highest gastric cancer mortality rates in Western Europe, along with high prevalences of Helicobacter pylori infection. Monitoring their trends is essential to predict the burden of this cancer. We aimed to quantify time trends in gastric cancer mortality in Portugal and in each administrative region, and to compute short-term predictions, as well as to describe the prevalence of H. pylori infection, through a systematic review. Joinpoint analyses were used to identify significant changes in sex-specific trends in gastric cancer age-standardized mortality rates (ASMR) and to estimate annual percent changes (APC). The most recent trends were considered to compute estimates up to 2020 by adjusting Poisson regression models. We searched PubMed and IndexRMP to identify studies carried out in Portugal reporting the prevalence of H. pylori. Gastric cancer mortality has been decreasing in Portugal since 1971 in men (from ASMR=55.3/100 000; APC=-2.4, 95% confidence interval: -2.5 to -2.3) and since 1970 in women (from ASMR=28.0/100 000; APC=-2.8, 95% confidence interval: -2.9 to -2.7), although large regional differences were observed. Predicted ASMR for 2015 and 2020 were 18.8/100 000 and 16.7/100 000 for men and 8.5/100 000 and 7.4/100 000 for women, respectively. The prevalence of H. pylori varied from almost 5% at 0.5-2 years to just over 90% at 70 years or more. No consistent variation was observed since the 1990s. The downward trends in mortality rates are expected to remain in the next decades. The high prevalence of H. pylori infection across age groups and studies from different periods shows a large potential for decrease in the burden of gastric cancer in Portugal.

Multidrug-resistant tuberculosis in Lisbon, Portugal: a molecular epidemiological perspective.

PubMed

Perdigão, João; Macedo, Rita; João, Inês; Fernandes, Elisabete; Brum, Laura; Portugal, Isabel

2008-06-01

Portugal has the fourth highest tuberculosis (TB) incidence rate in the European Union (EU). Thirty-nine percent of all cases originate in Lisbon Health Region. Portugal also presents high levels of multidrug-resistant tuberculosis (MDR-TB) (1.5%, primary rate and 2.4%, in retreatment cases). In the present study we have characterized 58 MDR-TB clinical isolates by: (i) determining the resistance profile to first- and second-line drugs used in the treatment of tuberculosis; (ii) genotyping all isolates by MIRU-VNTR; (iii) analyzing mutations conferring resistance to isoniazid, rifampicin, streptomycin, and ethambutol, in katG, mabA-inhA, rpoB, rpsL, rrs, and pncA genes. We have therefore established the prevalence of the most common mutations associated with drug resistance in the Lisbon Health Region: C-15T in mabA-inhA for isoniazid; S531L in rpoB for rifampicin; K43R in rpsL for streptomycin; and V125G in pncA for pyrazinamide. By genotyping all isolates and combining with the mutational results, we were able to assess the isolates' genetic relatedness and determine possible transmission events. Strains belonging to family Lisboa, characterized several years ago, are still responsible for the majority of the MDR-TB. Even more alarming is the high prevalence of extensive drug-resistant tuberculosis (XDR-TB) among the MDR-TB isolates, which was found to be 53%. The TB status in Portugal therefore requires urgent attention to contain the strains continuously responsible for MDR-TB and now, XDR-TB.

The Regulation of Sox9 Gene Expression by the GATA4/FOG2 Transcriptional Complex in Dominant XX Sex Reversal Mouse Models.

PubMed Central

Manuylov, Nikolay L.; Fujiwara, Yuko; Adameyko, Igor I.; Poulat, Francis

2007-01-01

We have previously established an in vivo requirement for GATA4 and FOG2 transcription factors in sexual differentiation. Fog2 null mouse fetuses or fetuses homozygous for a targeted mutation in Gata4 (Gata4ki), which cripples the GATA4-FOG2 interaction, exhibit a profound and early block in testis differentiation in both sexes. Others have shown that XX mice with the Ods transgenic insertion or the Wt1-Sox9 YAC transgene overexpress the testis differentiation gene, Sox9. Thus, these XX animals undergo dominant sex-reversal by developing into phenotypically normal, but sterile, males. Now we have determined that Fog2 haploinsufficiency prevents (suppresses) this dominant sex-reversal and Fog2+/− Wt1-Sox9 or Ods XX animals develop normally - as fertile females. The suppression of sex-reversal in Fog2 heterozygous females results from approximately 50% downregulation of the expression from the transgene-associated allele of Sox9. The GATA4/FOG2-dependent sex reversal observed in the transgenic XX gonads has to rely on gene targets other than the Y chromosome-linked Sry gene. Importantly, Fog2 null or Gata4ki/ki embryos (either XX or XY) fail to express detectable levels of Sox9 despite carrying the Ods mutation or Wt1-Sox9 transgene. Fog2 haploinsufficiency leads to a decreased amount of SOX9-positive cells in XY gonads. We conclude that FOG2 is a limiting factor in the formation of a functional GATA4/FOG2 transcription complex that is required for Sox9 expression during gonadogenesis. PMID:17540364

Evaluation of the level of depression among medical students from Poland, Portugal and Germany.

PubMed

Seweryn, Mariusz; Tyrała, Kinga; Kolarczyk-Haczyk, Aleksandra; Bonk, Magdalena; Bulska, Weronika; Krysta, Krzysztof

2015-09-01

Depression is a serious illness affecting health, family and professional life of many people of all sectors of society. It also concerns students, regardless of their geographical location. The Beck Depression Inventory (BDI) is a proper tool to brief check of the level of depression because it has high correlation with depression. The aim of this study was to assess and compare the level of depression among medical students from Poland, Portugal and Germany. Students from different countries were asked to fill in an electronic form containing the BDI. The form was created separately for each country, using official translation of the BDI, approved by the competent psychiatric association. Google Drive software was used for the electronic form, and Stat soft Statistica v10 software for statistical analysis. There were statistically significant differences (p<0.05) in terms of average score of the BDI and of the proportion of the scores more than 10 points of medical and technology students among kinds of studies and countries. The average score of the BDI of medical students: Poland: 13.76±9.99 points; Germany: 8.49±7.64 points; Portugal: 7.37±7.67 points. The average score of the BDI of technology students: Poland: 12.42±9.66 points; Germany: 10.51±8.49 points; Portugal: 9.25±8.97 points. The proportion of the scores more than 10 points of medical students: Poland 56.32% (285/506) Germany 34.92% (154/441) Portugal 26.03% (82/315). The proportion of the scores more than 10 points of technology students: Poland 55.01% (368/669) Germany 43.82% (156/356) Portugal 37.57% (136/362). The highest depression score among medical and technology students according the BDI was found in Poland. A proper monitoring of depression is required, as well as rapid and appropriate help for those who suffer from it.

Comparing flood mortality in Portugal and Greece under a gender and age perspective

NASA Astrophysics Data System (ADS)

Pereira, Susana; Diakakis, Michalis; Deligiannakis, Georgios; Luís Zêzere, José

2017-04-01

Flood mortality is analyzed and compared between Portugal and Greece. Flood fatality incidents are explored and compared in terms of their temporal evolution, spatial distribution, deadliest flood types, surrounding environments, gender and age of the victims. A common flood fatalities database for the period 1960-2010 was formed by merging the DISASTER database for Portugal and the Greek database previously built from documental sources. Each entry of the database, corresponding to a flood fatal incident has the following attributes: (i) ID number of the flood case; (ii) the flood type (riverine flood, flash flood, urban flood, or not defined type); (iii) date (day-month-year); (iv) location (x and y coordinates); (v) number of fatalities; (vi) surrounding environment where the flood fatal incident occurred (i.e. outdoors on foot, outdoors inside a vehicle, or inside a building). (vii) gender of the victim (male, female, or gender not reported); (viii) age of the victim (< 15; 15-29; 39-44; 45 - 64; >65 years). Excluding the outlier 1967 flash flood event occurred in the Lisbon metropolitan area that caused 522 fatalities, Portugal recorded 114 flood fatalities (related to 80 flood cases) and Greece registered 189 fatalities (related to 57 flood cases). Results identified decreasing mortality trend in both countries, despite some fluctuations irregularly distributed over time. Since the 1980's the number of flood cases with multiple fatalities has been gradually decreasing. In both Greece and Portugal flash floods were responsible for more than 80% of flood mortality and the main metropolitan areas of each country (Athens and Lisbon) presented a clustering of fatalities, attributed to the higher population density combined with the presence of flood-prone areas. Indoor fatalities have been gradually reducing with time, whereas vehicle-related deaths have been rising in both countries. In both countries the majority of flood victims are males, indicating that males

Trends of cross-border mobility of physicians and nurses between Portugal and Spain

PubMed Central

2013-01-01

Context Health workforce cross-border mobility has an impact not only on individual health workers, but also on how health services are organized, planned, and delivered. This paper presents the results of a study of current mobility trends of health professionals along the borders between Portugal and Spain. The objective was to describe the profile of mobile physicians and nurses; to elicit the opinions of employers on mobility factors; to describe incentive policies to retain or attract health professionals; and to collect and analyse employers’ opinions on the impact of this mobility on their health services. Methods Phone interviews of key informants were used to collect relevant data. The interviews were conducted during December 2010 and January 2011 in health organizations along the border of the two countries. In Portugal and Spain, four and 13 organizations were selected, respectively. Interviews were obtained in all the Portuguese organizations and in four of the Spanish organizations. Results Findings suggest that cross-border mobility between the two countries has decreased. From Spain to Portugal, mobility trends are mainly of physicians who seek professional development in the form of specialization, the availability of positions, better salaries, and the perceived good living conditions. The mobility of nurses lasted until 2008, when reforms improved working conditions in Spain and contributed to reversing the flow. Since then, there has been an increase of Portuguese nurses going to Spain seeking better working conditions or simply a job. Portuguese nurses as well as Spanish physicians are well considered in terms of professionalism and qualifications by their Spanish and Portuguese hosts, respectively. Conclusions There is a deficit of valid data on the health workforce in general. The present study allowed further exploration of the reality of the mobility trends between Portugal and Spain. At present, the mobility trends are mainly of Spanish

Weather types and the regime of wildfires in Portugal

NASA Astrophysics Data System (ADS)

Pereira, M. G.; Trigo, R. M.; Dacamara, C. C.

2009-04-01

An objective classification scheme, as developed by Trigo and DaCamara (2000), was applied to classify the daily atmospheric circulation affecting Portugal between 1980 and 2007 into a set of 10 basic weather types (WTs). The classification scheme relies on a set of atmospheric circulation indices, namely southerly flow (SF), westerly flow (WF), total flow (F), southerly shear vorticity (ZS), westerly shear vorticity (ZW) and total vorticity (Z). The weather-typing approach, together with surfacemeteorological variables (e.g. intensity and direction of geostrophic wind, maximum and minimum temperature and precipitation) were then associated to wildfire events as recorded in the official Portuguese fire database consisting of information on each fire occurred in the 18 districts of Continental Portugal within the same period (>450.000 events). The objective of this study is to explore the dependence of wildfire activity on weather and climate and then evaluate the potential of WTs to discriminate among recorded wildfires on what respects to their occurrence and development. Results show that days characterised by surface flow with an eastern component (i.e. NE, E and SE) account for a high percentage of daily burnt area, as opposed to surface westerly flow (NW, W and SW), which represents about a quarter of the total number of days but only accounts for a very low percentage of active fires and of burnt area. Meteorological variables such as minimum and maximum temperatures, that are closely associated to surface wind intensity and direction, also present a good ability to discriminate between the different types of fire events.. Trigo R.M., DaCamara C. (2000) "Circulation Weather Types and their impact on the precipitation regime in Portugal". Int J of Climatology, 20, 1559-1581.

Emerging Models of Teacher Training: The Case of Portugal

ERIC Educational Resources Information Center

Alexandre, Fernando; Ferreira, Manuela; Miranda, Branca

2004-01-01

The structural reforms of geography teacher training in Portugal have been justified by the global evolution of the educational system and took into account: (1) the political will to extend the period of compulsory schooling, which now covers the whole of lower secondary education, but will soon cover upper secondary education as well; (2) the…

Demographic Data for Special Needs Children in Title XX Day Care. Report No. 7698.

ERIC Educational Resources Information Center

Asano, Mildred

Presented are demographic data for handicapped children in the Philadelphia area who might be eligible for federally funded (Title XX) day care services. The report consists of data tables and narrative sections for the following information: estimated number of handicapped children within catchment areas (CA's); estimated median income level of…

Case of successful IVF treatment of an oligospermic male with 46,XX/46,XY chimerism.

PubMed

Laursen, R J; Alsbjerg, B; Vogel, I; Gravholt, C H; Elbaek, H; Lildballe, D L; Humaidan, P; Vestergaard, E M

2018-04-30

We present a case of an infertile male with 46,XX/46,XYchimerism fathering a child after ICSI procedure. Conventional cytogenetic analysis on chromosomes, derived from lymphocytes, using standard Q-banding procedures with a 450-550-band resolution and short-tandem-repeat analysis of 14 loci. Analysis of 20 metaphases from lymphocytes indicated that the proband was a karyotypic mosaic with an almost equal distribution between male and female cell lines. In total, 12 of 20 (60%) metaphases exhibited a normal female karyotype 46,XX, while 8 of 20 (40%) metaphases demonstrated a normal male karyotype 46,XY. No structural chromosomal abnormalities were present. Out of 14 STR loci, two loci (D18S51 and D21S11) showed four different alleles in peripheral blood, buccal mucosal cells, conjunctival mucosal cells, and seminal fluid. In three loci (D2S1338, D7S820, and vWA), three alleles were detected with quantitative differences that indicated presence of four alleles. In DNA extracted from washed semen, four alleles were detected in one locus, and three alleles were detected in three loci. This pattern is consistent with tetragametic chimerism. There were no quantitative significant differences in peak heights between maternal and paternal alleles. STR-analysis on DNA from the son confirmed paternity. We report a unique case with 46,XX/46,XY chimerism confirmed to be tetragametic, demonstrated in several tissues, with male phenotype and no genital ambiguity with oligospermia fathering a healthy child after IVF with ICSI procedure.

HLA genes in Madeira Island (Portugal) inferred from sequence-based typing: footprints from different origins.

PubMed

Spínola, Hélder; Bruges-Armas, Jácome; Mora, Marian Gantes; Middleton, Derek; Brehm, António

2006-04-01

Human leukocyte antigen (HLA)-A, HLA-B, and HLA-DRB1 polymorphisms were examined in Madeira Island populations. The data was obtained at high-resolution level, using sequence-based typing (SBT). The most frequent alleles at each loci were: A*020101 (24.6%), B*5101 (9.7%), B*440201 (9.2%), and DRB1*070101 (15.7%). The predominant three-loci haplotypes in Madeira were A*020101-B*510101-DRB1*130101 (2.7%) and A*010101-B*0801-DRB1*030101 (2.4%), previously found in north and central Portugal. The present study corroborates historical sources and other genetic studies that say Madeira were populated not only by Europeans, mostly Portuguese, but also sub-Saharan Africans due to slave trade. Comparison with other populations shows that Madeira experienced a stronger African influence due to slave trade than Portugal mainland and even the Azores archipelago. Despite this African genetic input, haplotype and allele frequencies were predominantly from European origin, mostly common to mainland Portugal.

Depression and unemployment incidence rate evolution in Portugal, 1995-2013: General Practitioner Sentinel Network data.

PubMed

Rodrigues, Ana Paula; Sousa-Uva, Mafalda; Fonseca, Rita; Marques, Sara; Pina, Nuno; Matias-Dias, Carlos

2017-11-17

Quantify, for both genders, the correlation between the depression incidence rate and the unemployment rate in Portugal between 1995 and 2013. An ecological study was developed to correlate the evolution of the depression incidence rates estimated by the General Practitioner Sentinel Network and the annual unemployment rates provided by the National Statistical Institute in official publications. There was a positive correlation between the depression incidence rate and the unemployment rate in Portugal, which was significant only for males (R2 = 0.83, p = 0.04). For this gender, an increase of 37 new cases of depression per 100,000 inhabitants was estimated for each 1% increase in the unemployment rate between 1995 and 2013. Although the study design does not allow the establishment of a causal association between unemployment and depression, the results suggest that the evolution of unemployment in Portugal may have had a significant impact on the level of mental health of the Portuguese, especially among men.

Participation in Lifelong Learning in Portugal and the UK

ERIC Educational Resources Information Center

Ingham, Hilary; Ingham, Mike; Afonso, José Adelino

2017-01-01

Lifelong learning is a long-standing European Union priority, with an emphasis on the need for it to be pursued by all, but particularly those at the risk of exclusion. This study explores participation in Portugal and the UK, countries at opposite ends of the European adult learning spectrum with markedly different contexts. Analysis reveals that…

Social Movements in Renewable Energy Development in Portugal and California

NASA Astrophysics Data System (ADS)

Walsh, Nathan William

Changes in the climatic stasis of the planet have been observed for many years and these changes are at last having an impact on the perceived security of the planet as a whole. The causes of these changes are linked generally to the emission of gasses emitted by the burning of hydrocarbons for the production of energy. The shift toward less intensive hydrocarbon use and more non-emitting sources of energy appear to be driven by a popular desire for action from populations. Among the many examples of renewable energy development Portugal stands out as a shining example of great development in a short period of time. Whether that development has been caused by popular demand within the state or due to political processes within the state or political influences external to the state is important to understand so that similar results can be replicated throughout the world. KEYWORDS: Social Movement Theory, Collective Action, Renewable Energy development, Portugal, California.

Current status of psychiatric rehabilitation in Portugal: A national survey.

PubMed

Teixeira, Carina; Santos, Eduardo; Abreu, Manuel Viegas; Rogers, E Sally

2015-09-01

This article reports on the current state of psychiatric rehabilitation in Portugal. A paper-and-pencil survey was sent to 70 institutions to inquire about the provision of psychiatric rehabilitation services and programs. With a response rate of 40%, 14% of institutions indicated that supported education was provided, 36% offered nonmainstream vocational training, and 29% provided supported employment; none provided evidence-based Individual Placement and Support. Permanent group homes in the community (29%) followed by transitional group homes on institutional grounds (18%) were the most common residential services, with supported housing services (14%) offered less frequently. Finally, 93% of institutions offered occupational activities, 61% provided multifamily psychoeducation, and 36% provided single-family psychoeducation. Despite recent national initiatives promoting effective psychiatric rehabilitation services, supported employment, supported education, and supported housing are not widely implemented in Portugal. To achieve better outcomes for clients, it is critical that evidence-based and promising practices be extensively disseminated. (c) 2015 APA, all rights reserved).

Identification of ectopic ovotestis in a dog with XX ovotesticular, SRY-negative, disorder of sexual development.

PubMed

Diel de Amorim, M; Lerer, A; Durzi, T; Foster, R A; Gartley, C J

2018-06-01

A 1-year-old, previously spayed phenotypic female Poodle/Soft-coated Wheaten Terrier (Whoodle) cross was presented for a suspected ovarian remnant. Serum luteinizing hormone (LH) concentration was below the detection limit (<1 ng/ml Witness ® LH), and serum progesterone concentration was elevated in the chemiluminescence immunoassay (CLIA; 20 ng/ml), consistent with dioestrus and presence of ovarian tissue. Transabdominal ultrasound revealed a retroperitoneal soft tissue structure suspected to be a gonad. On exploratory laparotomy, a gonad was removed from the cranial retroperitoneum, cranial to the right kidney, after ligation of its primary blood supply. Histological examination proved the gonad to be an ovotestis. Subsequent cytogenetics revealed a 78 XX karyotype, thus confirming the diagnosis of ectopic ovotestis in a XX ovotesticular, SRY-negative, disorder of sexual development in a dog. © 2018 Blackwell Verlag GmbH.

Obtaining highly excited eigenstates of the localized XX chain via DMRG-X.

PubMed

Devakul, Trithep; Khemani, Vedika; Pollmann, Frank; Huse, David A; Sondhi, S L

2017-12-13

We benchmark a variant of the recently introduced density matrix renormalization group (DMRG)-X algorithm against exact results for the localized random field XX chain. We find that the eigenstates obtained via DMRG-X exhibit a highly accurate l-bit description for system sizes much bigger than the direct, many-body, exact diagonalization in the spin variables is able to access. We take advantage of the underlying free fermion description of the XX model to accurately test the strengths and limitations of this algorithm for large system sizes. We discuss the theoretical constraints on the performance of the algorithm from the entanglement properties of the eigenstates, and its actual performance at different values of disorder. A small but significant improvement to the algorithm is also presented, which helps significantly with convergence. We find that, at high entanglement, DMRG-X shows a bias towards eigenstates with low entanglement, but can be improved with increased bond dimension. This result suggests that one must be careful when applying the algorithm for interacting many-body localized spin models near a transition.This article is part of the themed issue 'Breakdown of ergodicity in quantum systems: from solids to synthetic matter'. © 2017 The Author(s).

Drastic stability change of X-X mismatch in d(CXG) trinucleotide repeat disorders under molecular crowding condition.

PubMed

Teng, Ye; Pramanik, Smritimoy; Tateishi-Karimata, Hisae; Ohyama, Tatsuya; Sugimoto, Naoki

2018-02-05

The trinucleotide repeat d(CXG) (X = A, C, G or T) is the most common sequence causing repeat expansion disorders. The formation of non-canonical structures, such as hairpin structures with X-X mismatches, has been proposed to affect gene expression and regulation, which are important in pathological studies of these devastating neurological diseases. However, little information is available regarding the thermodynamics of the repeat sequence under crowded cellular conditions where many non-canonical structures such as G-quadruplexes are highly stabilized, while duplexes are destabilised. In this study, we investigated the different stabilities of X-X mismatches in the context of internal d(CXG) self-complementary sequences in an environment with a high concentration of cosolutes to mimic the crowding conditions in cells. The stabilities of full-matched duplexes and duplexes with A-A, G-G, and T-T mismatched base pairs under molecular crowding conditions were notably decreased compared to under dilute conditions. However, the stability of the DNA duplex with a C-C mismatch base pair was only slightly destabilised. Investigating different stabilities of X-X mismatches in d(CXG) sequences is important for improving our understanding of the formation and transition of multiple non-canonical structures in trinucleotide repeat diseases, and may provide insights for pathological studies and drug development. Copyright © 2018 Elsevier Inc. All rights reserved.

The role of transboundary air pollution over Galicia and North Portugal area.

PubMed

Borrego, C; Souto, J A; Monteiro, A; Dios, M; Rodríguez, A; Ferreira, J; Saavedra, S; Casares, J J; Miranda, A I

2013-05-01

In summer, high levels of ozone (O3) are frequently measured at both Galicia and Northern Portugal air quality monitoring stations, even exceeding the limit values imposed by legislation. This work aims to investigate the origin of these high O3 concentrations by the application of a chemical transport modelling system over the northwestern area of the Iberian Peninsula. The WRF-CHIMERE modelling system was applied with high resolution to simulate the selected air pollution episodes that occurred simultaneously in Galicia and North Portugal and in order to study both the contribution of local emission sources and the influence of transboundary pollution. Emission inputs have been prepared based on the development of the Portuguese and Galician emission inventories. The obtained results for O3 have been evaluated and validated against observations. Modelling results show possible contribution of the transboundary transport over the border of two neighbour regions/countries, indicating that the O3 episode starts over the urban and industrialised area of North coast of Portugal, reaching the maximum peaks over this region; at the same time, O3 levels increased over Galicia region, where lower concentrations, but still high, were observed. These results pointed out that air quality management should not be driven by political boundaries and highlight the importance of joining efforts between neighbouring countries.

Direct treatment costs of HIV/AIDS in Portugal.

PubMed

Perelman, Julian; Alves, Joana; Miranda, Ana Cláudia; Mateus, Céu; Mansinho, Kamal; Antunes, Francisco; Oliveira, Joaquim; Poças, José; Doroana, Manuela; Marques, Rui; Teófilo, Eugénio; Pereira, João

2013-10-01

To analyze the direct medical costs of HIV/AIDS in Portugal from the perspective of the National Health Service. A retrospective analysis of medical records was conducted for 150 patients from five specialized centers in Portugal in 2008. Data on utilization of medical resources during 12 months and patients' characteristics were collected. A unit cost was applied to each care component using official sources and accounting data from National Health Service hospitals. The average cost of treatment was 14,277 €/patient/year. The main cost-driver was antiretroviral treatment (€ 9,598), followed by hospitalization costs (€ 1,323). Treatment costs increased with the severity of disease from € 11,901 (> 500 CD4 cells/µl) to € 23,351 (CD4 count ≤ 50 cells/ µl). Cost progression was mainly due to the increase in hospitalization costs, while antiretroviral treatment costs remained stable over disease stages. The high burden related to antiretroviral treatment is counterbalanced by relatively low hospitalization costs, which, however, increase with severity of disease. The relatively modest progression of total costs highlights that alternative public health strategies that do not affect transmission of disease may only have a limited impact on expenditure, since treatment costs are largely dominated by constant antiretroviral treatment costs.

Will new gender policies stop the decrease of women physicists in Portugal?

NASA Astrophysics Data System (ADS)

Rosa, Carla Carmelo; Peña, Maria Teresa; Saavedra, Luisa; Providência, Constança

2013-03-01

The present context of women physicists in Portugal is discussed, updating our report for the 2002 IUPAP International Conference on Women in Physics, in which the 30 years prior to 2000 were analyzed.

Genetic characterization of Toxoplasma gondii isolates from Portugal, Austria, and Israel reveals higher genetic variability within the type II lineage

USDA-ARS?s Scientific Manuscript database

This study compared genetic diversity of Toxoplasma gondii isolates from Portugal, Austria and Israel. For this, we genotyped 90 T. gondii isolates (16 from Portugal, 67 from Austria and 7 from Israel) using 10 nested PCR-restriction length polymorphism (RFLP) genetic markers and 15 microsatellite (...

A seismicity boundary in the low-strain region of Alentejo, south Portugal

NASA Astrophysics Data System (ADS)

Matos, Catarina; Zahradník, Jirí; Arroucau, Pierre; Silveira, Graça; Custódio, Susana

2017-04-01

Mainland Portugal lays on a stable continental setting characterized by low strain rates (convergence velocities < 1 mm/yr). However, the region has been the source of documented moderate magnitude earthquakes. The Alentejo region (south Portugal) presents belts of high epicenter density, the two main ones being (1) the Viana do Alentejo cluster in the south and (2) the NW-SE oriented Arraiolos alignment in the north. The latter appears as a sharp transition between a nearly aseismic area to the north and a seismically active area to the south. Active fault studies based on geological observations have not identified tectonic features able to explain the observed seismicity patterns. Our objective is to contribute to the understanding of the deformation pattern in south Portugal. Several hypotheses need to be addressed: (1) Are those clusters the expression of a broad region of distributed deformation?; (2) Do they mark structures that might have the potential to generate moderate magnitude events? We use a high-quality dataset recorded by a temporary array deployed in the area to produce a robust image of earthquake locations and to compute focal mechanisms. Newly detected events match well the previously identified earthquake alignments. The local network provides good control of the focal depths. We observe a spatial variation in the depth distribution. The Arraiolos alignment seems to produce deeper earthquakes than the Viana do Alentejo cluster. Earthquake locations inferred using 1D and 3D velocity models show a persistent concentration of seismicity at middle to lower crust depths (15 - 30 km) in the SE section of that alignment. We also present relocation of instrumental seismicity for the period (1970-2016). Previous studies show that a strike-slip faulting regime dominates mainland Portugal. IPMA (Instituto Português do Mar e da Atmosfera) routinely computes focal mechanisms for earthquakes with reported local magnitudes of 3.5 or greater using the

Air quality management in Portugal: example of needs and available tools.

PubMed

Borrego, C; Miranda, A I; Coutinho, M; Ferreira, J; Carvalho, A C

2002-01-01

The Framework Directive (FWD) and the proposed Daughter Directives are the newest legislative instruments concerning a new political strategy and air quality management approach for Europe. Additionally, the member countries of the United Nations Economic Commission for Europe have included the concepts of critical load and level for planning air pollution abatement strategies and as a base of international agreements concerning limitation of the emissions of air pollutants. These concepts imply an accurate knowledge about pollutants deposition fluxes. The paper describes the main needs and the tools available to define a strategy of air quality management in Portugal. Two study cases are presented: (1) extensive monitoring plan to assess the impact of an urban incinerator plant; and (2) contribution to a methodology to estimate critical levels for a coastal region in Portugal. These different approaches allowed illustrating the complexity of the implementation of an air pollution management strategy.

[Career Satisfaction of Medical Residents in Portugal].

PubMed

Martins, Maria João; Laíns, Inês; Brochado, Bruno; Oliveira-Santos, Manuel; Teixeira, Pedro Pinto; Brandão, Mariana; Cerqueira, Rui João; Castro-Ferreira, Ricardo; Bernardes, Carlos; Menezes, Miguel Nobre; Baptista, Bernardo Soares; Ladeiras-Lopes, Ricardo; Rei, Mariana Cruz; Rosa, Gilberto Pires da; Martins, José Luís; Mendonça Sanches, Maria; Ferreira-Pinto, Manuel J; Rato, Margarida; Costa e Silva, Miguel; Policiano, Catarina; Beato, João; Barbosa-Breda, João; Torres, João Pimentel; Leal, Inês; Rosa, Sílvia Aguiar; Ribeiro, Bárbara Carvalho; Costa, Francisco Rego; Palmela, Carolina; Gonçalves, Tiago Cúrdia; Morais, Luis; Marques, Tiago Reis

2015-01-01

The satisfaction with the medical profession has been identified as an essential factor for the quality of care, the wellbeing of patients and the healthcare systems' stability. Recent studies have emphasized a growing discontent of physicians, mainly as a result of changes in labor relations. To assess the perception of Portuguese medical residents about: correspondence of residency with previous expectations; degree of satisfaction with the specialty, profession and place of training; reasons for dissatisfaction; opinion regarding clinical practice in Portugal and emigration intents. Cross-sectional study. Data collection was conducted through the "Satisfaction with Specialization Survey", created in an online platform, designed for this purpose, between May and August 2014. From a total population of 5788 medical residents, 804 (12.25 %) responses were obtained. From this sample, 77% of the responses were from residents in the first three years. Results showed that 90% of the residents are satisfied with their specialty, 85% with the medical profession and 86% with their place of training. Nevertheless, results showed a decrease in satisfaction over the final years of residency. The overall assessment of the clinical practice scenario in Portugal was negative and 65% of residents have plans to emigrate after completing their residency. Portuguese residents revealed high satisfaction levels regarding their profession. However, their views on Portuguese clinical practice and the results concerning the intent to emigrate highlight the need to take steps to reverse this scenario.

Hydro-geomorphologic disasters in Portugal: mortality trends in the past 150 years

NASA Astrophysics Data System (ADS)

Pereira, Susana; Zêzere, José L.; Quaresma, Ivânia; Santos, Pedro P.; Santos, Mónica

2015-04-01

For the first time in Portugal, an extensive analysis of the mortality caused by hydro-geomorphological hazards was made, for a long period (1865-2010) using the DISASTER database (Zêzere et al., 2014). This database was built under the assumption that social consequences (including fatalities) of floods and landslides are relevant enough to be reported by newspapers, which were the source for data collection. This database counts 1902 hydro-geomorphologic cases that caused 1248 fatalities, 14 191 evacuated persons and 41 844 homeless persons. Floods correspond to the majority of cases (85.2%) that caused 1012 fatalities. Landslides correspond to 14.8 % of the total hydro-geomorphologic cases and caused 236 fatalities. The exploitation of the DISASTER database allowed: (i) to analyze the frequency and the temporal evolution of fatal floods and landslides; (ii) to analyze the spatio-temporal distribution of fatalities; (iii) to identify the most deadly flood and landslide types; and (iv) to evaluate the individual and societal risk. The obtained results demonstrate the absence of any exponential growth with time of hydro-geomorphologic cases and associated fatalities in Portugal. The highest flood and landslide cases as well as the associated mortality were registered in the period 1935-1969. After this period, flood and landslide mortality decreased, although landslide fatalities remained higher than the registered in the period 1865-1934. These features do not account the exceptional flash flood event occurred in the Lisbon region in November 1967. This outlier event was responsible for 522 fatalities, which corresponds to more than half of the total mortality generated by floods in Portugal in the complete time series (1865 - 2010). Moreover, the 1967 flash flood event was the deadliest natural disaster registered in Portugal after the Lisbon earthquake occurred in 1755, not accounting heat waves. Flood fatalities occurred widespread in the country, with an

Corporate Blended Learning in Portugal: Current Status and Future Directions

ERIC Educational Resources Information Center

Marcal, Julia; Caetano, Antonio

2010-01-01

The aim of this study is to characterize the current status of blended learning in Portugal, given that b-learning has grown exponentially in the Portuguese market over recent years. 38 organizations (representing 68% of all institutions certified to provide distance training by the Government Labour Office--DGERT-) participated in this study. The…

School Closures and Community Revitalisation: The Case of Obidos, Portugal

ERIC Educational Resources Information Center

Godinho, Ana Sofia

2012-01-01

Rural communities in many countries are faced with the need to restructure their school networks and close some smaller facilities. Obidos, a town in western Portugal, provides a case study of how to meet these challenges by creating new school complexes that offer improved educational opportunities to the teaching staff, students and local…

The distribution of ticks (Acari: Ixodidae) of domestic livestock in Portugal.

PubMed

Estrada-Peña, Agustín; Santos-Silva, Maria Margarida

2005-01-01

This paper introduces the first countrywide faunistic study of the tick parasites on ruminants in Portugal. The aim of this study was to map accurately the distribution of the ticks Dermacentor marginatus, Rhipicephalus (Boophilus) annulatus, R. bursa, Hyalomma m. marginatum, H. lusitanicum and Ixodes ricinus in Portugal. Additional information about the abiotic preferences of these species has been obtained through the use of abiotic (temperature- and vegetation-derived) variables have been recorded from remotely sensed information at a nominal resolution of 1.1 km(2). A further aim was the development of predictive models of distribution using Classification and Regression Trees (CART) methodologies. Four species (R. annulatus, R. bursa, D. marginatus and H. m. marginatum) are mostly restricted to south-eastern parts of the country, under hot and dry climate conditions of Mediterranean type. H. lusitanicum has been collected almost only in the southern half of Portugal. I. ricinus has a very patchy distribution and is mainly associated with vegetation of Quercus spp., found in southern zones of the country, but it is present also in the more humid western part. A variable number of abiotic variables, mainly temperature derived, are able to describe the preferences of the tick species. It is remarkable that variables derived from maximum values of the Normalized Derived Vegetation Index (yearly or summer-derived) only apply to discriminate areas where I. ricinus has been collected. CART models are able to map the distribution of these ticks with accuracy ranging within 75.3 and 96.4% of actual positive sites.

Teleportation via thermally entangled states of a two-qubit Heisenberg XX chain

DOE Office of Scientific and Technical Information (OSTI.GOV)

Yeo Ye

2002-12-01

Recently, entanglement teleportation has been investigated by Lee and Kim [Phys. Rev. Lett. 84, 4236 (2000)]. In this paper we study entanglement teleportation via two separate thermally entangled states of a two-qubit Heisenberg XX chain. We established the condition under which the parameters of the model have to satisfy in order to teleport entanglement. The necessary minimum amount of thermal entanglement for some fixed strength of exchange coupling is a function of the magnetic field and the temperature.

[Molecular and cytogenetic characterization of six 46, XX males due to translocations between the short arms of X and Y chromosomes].

PubMed

Xing, Ya; Ji, Xing; Xiao, Bing; Jiang, Wen-ting; Hu, Qin; Hu, Juan; Cao, Ying; Tao, Jiong

2012-08-01

To characterize molecular and cytogenetic abnormalities in six 46, XX males, and to investigate the clinical manifestations and underlying mechanisms in such patients. Clinical data of six XX male patients were collected. Karyotyping, multiple polymerase chain reaction (PCR) and fluorescence in situ hybridization (FISH) were utilized to detect and locate the sex determining region (SRY) gene. PCR and FISH showed that all patients were SRY-positive XX males. All patients have their SRY gene located at the tip of derivative X chromosomes, which have resulted from translocation between short arms of X and Y chromosomes. High resolution karyotyping at 550-750 band level has revealed that the translocation breakpoints were at Xp22.33 and Yp11.2 in three patients. In the remaining patients, the breakpoints were either at Xp22.32 and Yp11.31 or Xp22.31 and Yp11.2. The breakpoints at Xp22.32, Xp22.31 and Yp11.31 were rarely reported. Genotype-phenotype correlation analysis indicated that the clinical manifestations were age-specific. Four adult patients have come to clinical attention due to infertility, with typical features including azoospermia and testis dysgenesis, whereas poorly developed secondary sexual characteristics and short stature were main complaints of adolescence patients, and short stature was the sole symptom in a child patient. Combined karyotyping, PCR and FISH are important for the analysis of XX males. Particularly, high resolution karyotyping is valuable for the refinement of chromosome breakpoints and detailed analysis of genotype-phenotype correlation.

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

PubMed

Narayanan, Vidya Kanamkote; Kharbanda, Mira; Donaldson, Malcolm

2016-12-01

Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight -0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.

Discovery of DLT18h/AT 2018xx with PROMPT and the DLT40 Survey

NASA Astrophysics Data System (ADS)

Sand, D.; Valenti, S.; Wyatt, S.; Bostroem, K. A.; Reichart, D. E.; Haislip, J. B.; Kouprianov, V.

2018-02-01

We report the discovery of DLT18h/AT 2018xx, which was first imaged on 2018 Feb 21.1 (UT) at R 17.2 mag during the ongoing D < 40 Mpc (DLT40) one day cadence supernova search, which uses data from the PROMPT5 0.41m telescope located at CTIO.

Antimicrobial, antiviral and antioxidant activities of "água-mel" from Portugal.

PubMed

Miguel, Maria G; Faleiro, Leonor; Antunes, Maria D; Aazza, Smail; Duarte, Joana; Silvério, Ana R

2013-06-01

"Água-mel" is a honey-based product produced in Portugal for ancient times. Several attributes have been reported to "água-mel" particularly in the alleviation of simple symptoms of upper respiratory tract. Samples of "água-mel" from diverse beekeepers from different regions of Portugal were studied in what concerns antimicrobial, antioxidant and antiviral properties. The amounts of phenol and brown pigment were also evaluated and correlated with the antioxidant activities. A great variability on the levels of these compounds was found among samples which were responsible for the variability detected also on the antioxidant activities, independent on the method used. Generally, antioxidant activity correlated better with brown pigments' amount than with phenols' content. The antimicrobial activity found for "água-mel" samples confirm the virtues reported by popular findings. In addition, this work also reveals the antiviral properties of "água-mel" evidenced by a decrease on the infectivity of the Qβ bacteriophage. Copyright © 2013 Elsevier Ltd. All rights reserved.

Ocean Drilling Program: Completed Legs

Science.gov Websites

. Austin Leg summary Repository Wolfgang Schlager 102 14-Mar-85 25-Apr-85 Miami, <em>Florida> 418 Bermuda <em>Rise> Lisbon, Portugal 902-906 New Jersey <em>Sea-Level> Transect Peter Blum Gregory Mountain Leg summary Repository , Nova Scotia 1071-1073 Continuing the New Jersey <em>Sea-Level> Transect Mitchell J. Malone James A. Austin