WorldWideScience

Sample records for muir-torre syndrome includes

  1. Muir-Torre Syndrome

    Science.gov (United States)

    ... small bowel (intestinal), urinary tract , prostate , and hepatobiliary ( liver or bile duct ) cancers. People with Muir-Torre syndrome are also ... 80% Stomach cancer 11% to 19% Hepatobiliary tract ( liver or bile duct ) cancer 2% to 7% Urinary tract cancer 4% ...

  2. A case report of Muir-Torre syndrome in a woman with breast cancer and MSI-Low skin squamous cell carcinoma

    OpenAIRE

    Kientz, Caroline; Joly, Marie-Odile; Faivre, Laurence; Clemenson, Alix; Dalac, Sophie; Lepage, C?me; Chapusot, Caroline; Jacquot, Caroline; Schiappa, Renaud; Lebrun, Marine

    2017-01-01

    Background The tumor spectrum in the Lynch syndrome is well defined, comprising an increased risk of developing colonic and extracolonic malignancies. Muir-Torre syndrome is a variant with a higher risk of skin disease. Patients have been described carrying mutations in the mismatch repair genes and presenting tumors with unusual histology or affected organ not part of the Lynch syndrome spectrum. Hence, the real link between Lynch syndrome, or Muir-Torre syndrome, and these tumors remains di...

  3. Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.

    Science.gov (United States)

    Ponti, G; Ponz de Leon, M; Maffei, S; Pedroni, M; Losi, L; Di Gregorio, C; Gismondi, V; Scarselli, A; Benatti, P; Roncari, B; Seidenari, S; Pellacani, G; Varotti, C; Prete, E; Varesco, L; Roncucci, L

    2005-11-01

    Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations.Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar feature is the presence of sebaceous gland tumors associated with visceral malignancies. We describe one patient in whom multiple sebaceous gland tumors were associated with early onset colon and thyroid cancers and attenuated polyposis coli. Her family history was positive for colonic adenomas. She had a daughter presenting with yellow papules in the forehead region developed in the late infancy. Skin and visceral neoplasms were tested for microsatellite instability and immunohistochemical status of mismatch repair (MMR), APC and MYH proteins. The proband colon and skin tumors were microsatellite stable and showed normal expression of MMR proteins. Cytoplasmic expression of MYH protein was revealed in colonic cancer cells. Compound heterozygosity due to biallelic mutations in MYH, R168H and 379delC, was identified in the proband. The 11-year-old daughter was carrier of the monoallelic constitutional mutation 379delC in the MYH gene; in the sister, the R168H MYH gene mutation was detected. This report presents an interesting case of association between MYH-associated polyposis and sebaceous gland tumors. These findings suggest that patients with MTS phenotype that include colonic polyposis should be screened for MYH gene mutations.

  4. Ileocecal Adenocarcinoma and Ureteral Transitional Cell Carcinoma with Multiple Sebaceous Tumors and Keratoacanthomas in a Case of Muir-Torre Syndrome

    Directory of Open Access Journals (Sweden)

    Michael C. Lynch

    2010-01-01

    Full Text Available Cutaneous neoplasms including sebaceous tumors, keratoacanthomas, and basal cell carcinomas with sebaceous differentiation can be markers of internal malignancy associated with the Muir-Torre Syndrome (MTS. We report a 56-year-old man with a diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC and ureteral transitional cell carcinoma who subsequently developed two sebaceous gland neoplasms and several keratoacanthomas, leading to the diagnosis of MTS. Our case highlights the clinical advantages of immunohistochemistry (IHC in identifying mutations in the mismatch repair (MMR genes responsible for both HNPCC and MTS. The importance of continued clinical suspicion in the dermatological assessment of patients with sebaceous neoplasms is emphasized.

  5. Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma

    Directory of Open Access Journals (Sweden)

    Sunil Tulpule

    2016-02-01

    Full Text Available Muir-Torre syndrome (MTS is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. The back mass was excised, and pathology confirmed microsatellite instability in MSH2 and MSH6. Abdominal CT and colonoscopy confirmed the presence of synchronous masses in the cecum, ascending colon, and the transverse colon. He refused any further workup or treatment, only to return 8 months later complaining of hematochezia and discomfort due to an enlarging mass protruding from the rectum. After consenting to surgical intervention, he agreed to outpatient chemotherapy treatment. The presence of sebaceous neoplasms should raise suspicion for the possibility of an associated internal malignancy.

  6. The reflectance confocal microscopy features of sebaceous adenoma in a case of Muir Torre syndrome

    Directory of Open Access Journals (Sweden)

    Esma İnan Yüksel

    2015-03-01

    Full Text Available Muir-Torre syndrome (MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies. It is considered as a subtype of hereditary nonpolyposis colorectal cancer syndrome. Characteristic sebaceous gland neoplasms include sebaceous adenoma, sebaceous carcinoma, sebaceoma, and keratoacanthoma with sebaceous differentiation. The most common visceral malignancies are colorectal and genitourinary tumors. CASE: A 47year-old male patient admitted to our clinic complaining of two lesions on the nose. Dermatological examination revealed a plaque in 1 cm diameter consisting of bright yellowish-white coloured papules with slightly umblicated appearance and telangiectasias on the left site of the nose and had a dome shaped papule in 3 mm diameter with hyperkeratotic plug on the tip of the nose. He had personal history of partial colon resection because of colon cancer and familial Lynch 2 syndrome. On dermoscopic examination of sebaceous adenoma, a few yellow comedo-like globules and branching arborizing vessels were detected. Reflectance confocal microscopy (RCM revealed a good histopathologic correlation. Sebaceous lobules were composed by clusters of ovoid cells with hyporefractile dark nuclei and bright, hyperrefractile glistening cytoplasm. Numerous roundish to ovoid dark spaces corresponding to sebaceous ducts were detected. The diagnosis of MTS was established based on the personal and family history, dermoscopic, RCM and histopathologic findings. CONCLUSIONS: MTS evaluation is required in patients with biopsy-proven sebaceous adenoma. Early diagnosis may be lifesaving in patients with MTS. A better characterization of RCM features of sebaceous tumors will allow early diagnosis of the patients with MTS.

  7. Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.

    Science.gov (United States)

    Harper, Holly L; McKenney, Jesse K; Heald, Brandie; Stephenson, Andrew; Campbell, Steven C; Plesec, Thomas; Magi-Galluzzi, Cristina

    2017-01-01

    Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Patients were cross-referenced for history of colorectal carcinoma or other common Lynch syndrome-associated neoplasms to enrich for potential Lynch syndrome cases. Tumor histopathologic characteristics were reviewed and each case was analyzed for loss of mismatch repair proteins, MLH1, MSH2, MSH6, and PMS2, by immunohistochemistry. Of 444 patients with upper tract urothelial carcinoma, a subset of 215 (encompassing 30 with upper tract urothelial carcinoma and another common Lynch syndrome-associated neoplasm) was analyzed for loss of mismatch repair protein expression. Of 30 patients with Lynch syndrome-associated neoplasms, six had documented Lynch syndrome, including two with Muir-Torre syndrome. Mismatch repair protein loss was identified in 7% of total upper tract urothelial carcinomas and 30% of patients with Lynch syndrome-associated neoplasms (including all patients with Lynch syndrome/Muir-Torre syndrome). Of patients without history of Lynch syndrome-associated neoplasms, 5 of 184 (2.7%) had loss of mismatch repair protein expression. Twelve cases with mismatch repair protein loss demonstrated loss of MSH2 and MSH6, and 2 had isolated loss of MSH6. MLH1 and PMS2 expression were consistently retained. Although increased intratumoral lymphocytes, inverted growth, pushing tumor-stromal interface, and lack of nuclear pleomorphism were more commonly seen in cases with mismatch repair protein loss, only intratumoral lymphocytes and presence of pushing borders were statistically significant. MLH1 and PMS2 testing appear to have little utility in upper tract urothelial

  8. Process evaluation of a pilot evidence-based Polycystic Ovary Syndrome clinic in the Torres Strait.

    Science.gov (United States)

    Boyle, Jacqueline; Hollands, Grace; Beck, Sarah; Hampel, Gaynor; Wapau, Hylda; Arnot, Marissa; Browne, Louise; Teede, Helena J; Moran, Lisa J

    2017-06-01

    Polycystic ovary syndrome (PCOS) is a chronic endocrine syndrome in reproductive-aged women which is very common among Aboriginal and Torres Strait Islander women. The objective of this study was to conduct a process evaluation of a pilot clinic on Thursday Island which aimed to provide a comprehensive evidence-based service for women with PCOS throughout the Torres Strait. Mixed-method evaluation at 12 months comprising a medical record audit, semi-structured interviews and focus group discussions. Primary care. Audit of n = 11 clinics (n = 36 women), qualitative semi-structured interviews with n = 8 clinicians and focus group discussions with n = 8 women. (i) Fidelity to evidence-based guidelines, (ii) barriers and enablers to women using the service, (iii) the ability to meet the needs of women and the community. The clinic was largely successful in providing evidence-based care with up to 78% of women receiving recommended cardiometabolic screening, 100% emotional screening and 89% lifestyle management despite the remoteness of the clinic and limited financial and human resources. Health care providers report sustainability of the clinic will be dependent on factors including staffing, administrative support and inclusion of Aboriginal and Torres Strait Islander health workers. While the clinic has been largely successful there are areas identified for potential improvement and to facilitate sustainability which should be considered before up-scaling this model to a national level. These include systems, administrative and staffing support, engaging with other community services to facilitate lifestyle changes and ongoing engagement and upskilling of Aboriginal and Torres Strait Islander health care providers. © 2016 National Rural Health Alliance Inc.

  9. Nevoid basal cell carcinoma syndrome (Gorlin syndrome

    Directory of Open Access Journals (Sweden)

    Lo Muzio Lorenzo

    2008-11-01

    Full Text Available Abstract Nevoid basal cell carcinoma syndrome (NBCCS, also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1. Main clinical manifestations include multiple basal cell carcinomas (BCCs, odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism (macrocephaly, cleft lip/palate and severe eye anomalies. Intellectual deficit is present in up to 5% of cases. BCCs (varying clinically from flesh-colored papules to ulcerating plaques and in diameter from 1 to 10 mm are most commonly located on the face, back and chest. The number of BBCs varies from a few to several thousand. Recurrent jaw cysts occur in 90% of patients. Skeletal abnormalities (affecting the shape of the ribs, vertebral column bones, and the skull are frequent. Ocular, genitourinary and cardiovascular disorders may occur. About 5–10% of NBCCS patients develop the brain malignancy medulloblastoma, which may be a potential cause of early death. NBCCS is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity. Clinical diagnosis relies on specific criteria. Gene mutation analysis confirms the diagnosis. Genetic counseling is mandatory. Antenatal diagnosis is feasible by means of ultrasound scans and analysis of DNA extracted from fetal cells (obtained by amniocentesis or chorionic villus sampling. Main differential diagnoses include Bazex syndrome, trichoepithelioma papulosum multiplex and Torre's syndrome (Muir-Torre's syndrome. Management requires a multidisciplinary approach. Keratocysts are treated by surgical removal. Surgery for BBCs is indicated when the number of lesions is limited; other treatments include laser

  10. Dermatologic symptoms associated with gastrointestinal neoplasia

    Directory of Open Access Journals (Sweden)

    Beata Młynarczyk-Bonikowska

    2017-03-01

    Full Text Available Gastrointestinal tumors are among the most common neoplastic causes of death worldwide. Presence of characteristic skin lesions can allow faster diagnosis and therapy and this way can increase the probability of a cure. In the paper we present the most important paraneoplastic syndromes that can coexist with gastrointestinal malignancy including colon, gastric, esophagus and pancreatic cancers. We take into account genetic syndromes such as Cowden syndrome, familial atypical multiple mole melanoma syndrome (FAMMM (melanoma/pancreatic cancer, Clarke Howel-Evans, Peutz-Jeghers, Muir-Torre, Gardner syndromes and acquired syndromes such as acantosis nigricans maligna, tripe palms, Leser-Trelat, Bazex, hypertrichosis languinosa, erythema gyratum repens , carcinoid and glucagonoma syndrome. We also include cutaneous metastases and coexistence of neoplasia in some cases of dermatomyositis.

  11. Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome

    Directory of Open Access Journals (Sweden)

    Erin Baumgartner

    2018-01-01

    Full Text Available Hereditary nonpolyposis colorectal carcinoma (HNPCC is an autosomal dominant genetic disorder characterized by a predisposition towards colorectal carcinoma and other extracolonic neoplasms. Histiocytic sarcoma (HS is a very rare hematologic neoplasm characterized by a malignant proliferation of cells with histiocytic differentiation. We present the case of a 62-year-old male with previous diagnosis of MTS who presented with metastatic colorectal adenocarcinoma, bilateral papillary renal cell carcinoma, and a new squamous cell carcinoma of the scalp, treated with resection and adjuvant radiation therapy. After reconstructive surgery for his scalp resection, the patient developed a persistent nonhealing skin defect. A punch biopsy of this nonhealing skin defect and subsequent immunohistochemistry revealed neoplastic histiocytic cells restricted to the epidermis and underlying dermis. The diagnosis of cutaneous histiocytic sarcoma was then rendered. Histiocytic sarcoma is an exceptionally rare malignancy. Consequently, there is no universally agreed upon management protocol for this malignancy. The patient was admitted to hospice and treated with palliative radiation. This case demonstrates the need for awareness of the risk of secondary malignancies in cancer patients in order to facilitate early surgical intervention and optimal treatment.

  12. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications

    Science.gov (United States)

    Lynch, HT; Lynch, PM; Lanspa, SJ; Snyder, CL; Lynch, JF; Boland, CR

    2010-01-01

    More than one million patients will manifest colorectal cancer (CRC) this year of which, conservatively, approximately 3% (~30,700 cases) will have Lynch syndrome (LS), the most common hereditary CRC predisposing syndrome. Each case belongs to a family with clinical needs that require genetic counseling, DNA testing for mismatch repair genes (most frequently MLH1 or MSH2) and screening for CRC. Colonoscopy is mandated, given CRC’s proximal occurrence (70–80% proximal to the splenic flexure). Due to its early age of onset (average 45 years of age), colonoscopy needs to start by age 25, and because of its accelerated carcinogenesis, it should be repeated every 1 to 2 years through age 40 and then annually thereafter. Should CRC occur, subtotal colectomy may be necessary, given the marked frequency of synchronous and metachronous CRC. Because 40–60% of female patients will manifest endometrial cancer, tailored management is essential. Additional extracolonic cancers include ovary, stomach, small bowel, pancreas, hepatobiliary tract, upper uroepithelial tract, brain (Turcot variant) and sebaceous adenomas/carcinomas (Muir-Torre variant). LS explains only 10–25% of familial CRC. PMID:19659756

  13. Reducing visitor noise levels at Muir Woods National Monument using experimental management.

    Science.gov (United States)

    Stack, David W; Peter, Newman; Manning, Robert E; Fristrup, Kurt M

    2011-03-01

    Noise impacts resources and visitor experience in many protected natural areas, and visitors can be the dominant source of noise. This experimental study tested the efficacy and acceptability of signs asking visitors to be quiet at Muir Woods National Monument, California. Signs declaring a "quiet zone" (at the park's Cathedral Grove) or a "quiet day" (throughout the park) were posted on a randomized schedule that included control days (no signs). Visitor surveys were conducted to measure the cognitive and behavioral responses of visitors to the signs and test the acceptability of these management practices to visitors. Visitors were highly supportive of these management practices and reported that they consciously limited the amount of noise they produced. Sound level measurements showed substantial decreases on days when signs were posted. © 2011 Acoustical Society of America

  14. The nature of conflict between hikers and recreational stock users in the John Muir wilderness

    Science.gov (United States)

    Alan E. Watson; M. J. Niccolucci; Daniel R. Williams

    1994-01-01

    The purpose of this research was to determine the extent of conflict between hikers and recreational stock users in a Sierra Nevada wilderness and to test the relative importance of various hypothetical predictors of conflict using multiple conflict measures. A survey of hikers and recreational stock users of the John Muir Wilderness in California revealed the ability...

  15. Framing a Philosophy of Environmental Action: Aldo Leopold, John Muir, and the Importance of Community

    Science.gov (United States)

    Goralnik, Lissy; Nelson, Michael P.

    2011-01-01

    A philosophy of action consists of a theory about how and why we do things and what motivates us to act. By juxtaposing the theory of environmental action implied by the works and life of John Muir with the philosophy of action suggested by Aldo Leopold's Land Ethic, we will illuminate the importance of a philosophy of action in determining one's…

  16. Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome

    Czech Academy of Sciences Publication Activity Database

    Švec, Jiří; Schwarzová, L.; Janošíková, B.; Štekrová, J.; Mandys, V.; Kment, M.; Vodička, Pavel

    2014-01-01

    Roč. 7, č. 8 (2014), s. 5196-5202 ISSN 1936-2625 Grant - others:GA MŠk(CZ) Prvouk-P27/LF1/1; Univerzita Karlova(CZ) CZ.2.16/3.1.00/24024 Institutional support: RVO:68378041 Keywords : germline mutation * gastric cancer * MLH1 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.891, year: 2014

  17. Understanding and managing experiential aspects of soundscapes at Muir woods national monument.

    Science.gov (United States)

    Pilcher, Ericka J; Newman, Peter; Manning, Robert E

    2009-03-01

    Research has found that human-caused noise can detract from the quality of the visitor experience in national parks and related areas. Moreover, impacts to the visitor experience can be managed by formulating indicators and standards of quality as suggested in park and outdoor recreation management frameworks, such as Visitor Experience and Resource Protection (VERP), as developed by the U.S. National Park Service. The research reported in this article supports the formulation of indicators and standards of quality for human-caused noise at Muir Woods National Monument, California. Phase I identified potential indicators of quality for the soundscape of Muir Woods. A visitor "listening exercise" was conducted, where respondents identified natural and human-caused sounds heard in the park and rated the degree to which each sound was "pleasing" or "annoying." Certain visitor-caused sounds such as groups talking were heard by most respondents and were rated as annoying, suggesting that these sounds may be a good indicator of quality. Loud groups were heard by few people but were rated as highly annoying, whereas wind and water were heard by most visitors and were rated as highly pleasing. Phase II measured standards of quality for visitor-caused noise. Visitors were presented with a series of 30-second audio clips representing increasing amounts of visitor-caused sound in the park. Respondents were asked to rate the acceptability of each audio clip on a survey. Findings suggest a threshold at which visitor-caused sound is judged to be unacceptable, and is therefore considered as noise. A parallel program of sound monitoring in the park found that current levels of visitor-caused sound sometimes violate this threshold. Study findings provide an empirical basis to help formulate noise-related indicators and standards of quality in parks and related areas.

  18. Torre de televisión, Stuttgart

    Directory of Open Access Journals (Sweden)

    Leonhardt, F.

    1957-11-01

    Full Text Available Descripción general y estudio estático de la torre de televisión, construida en Stuttgart, de unos 310 m de altura total —antena metálica incluida— y provista de una especie de tronco de cono invertido, de mayor diámetro medio que el del fuste de la torre que, situado en la parte superior de la torre entre los 138 y 150 m de altura respecto al suelo, se ha subdividido, en altura, formando cuatro plantas, en las que se han alojado los servicies y un restaurante. Por encima de este cuerpo superior troncocónico se ha construido una terraza para poder disfrutar de espléndidas vistas panorámicas. La torre propiamente dicha tiene 10,8 m de diámetro en la base y 5,04 m en la parte superior, con una altura de 138 m entre estas dos secciones extremas.

  19. National Aboriginal and Torres Strait Islander Education Strategy 2015

    Science.gov (United States)

    Education Council, 2015

    2015-01-01

    Despite determined effort much more needs to be done to close the gap in Aboriginal and Torres Strait Islander education outcomes. Aboriginal and Torres Strait Islander people are the first Australians with the oldest continuing cultures in human history. Governments across Australia affirm the right of Aboriginal and Torres Islander people to…

  20. Creating walking tracks to success: A narrative analysis of AustralianAboriginal and Torres Strait Islander nursing students’ stories ofsuccess.

    Science.gov (United States)

    West, Roianne; Foster, Kim; Usher, Kim

    2016-01-01

    Australian Aboriginal and Torres Strait Islander people have higher rates of morbidity and mortality thanother Australians. One proposed strategy to improve this situation is to increase the participation ofAboriginal and Torres Strait Islander people, including Aboriginal and Torres Strait Islander nurses, inthe health workforce. Although the numbers of Aboriginal and Torres Strait Islander students under-taking tertiary nursing courses have increased, completion rates have not kept pace. The study aimedto describe Aboriginal and Torres Strait Islander nursing students’ experiences of enablers for successfulcourse completion and to develop a narrative of student experience. A qualitative study using a strengths-based approach with a narrative analysis of semi-structured interview data was conducted across fourschools of Nursing in Queensland, Australia. Eight final-year Aboriginal and Torres Strait Islander nursingstudents volunteered to participate in the study. A collective story with the overarching plotline Creatingwalking tracks to success was developed. Six threads of experience emerged: Making a difference, Valu-ing Indigeneity, Healing strength of connections, Resisting racism, Embracing support, and perseveringtowards completion. Key success factors included resilient attributes, building supportive connectionsand having positive expectations of the future, along with sustained institutional support from Aboriginaland Torres Strait Islander nurse academics and clinicians. Development of tailored resilience-buildingtraining for Aboriginal and Torres Strait Islander nursing students and appointment of Aboriginal andTorres Strait Islander academics in Schools of Nursing that include such students may facilitate futuresuccessful completions in other programs.

  1. Assisting an Australian Aboriginal and Torres Strait Islander person with gambling problems: a Delphi study.

    Science.gov (United States)

    Bond, Kathy S; Dart, Katrina M; Jorm, Anthony F; Kelly, Claire M; Kitchener, Betty A; Reavley, Nicola J

    2017-08-02

    Gambling problems appear to be more prevalent in the Australian Aboriginal and Torres Strait Islander population than in the non-Indigenous population. Although gambling harms can be significant, treatment-seeking rates are low. The Delphi expert consensus method was used to develop a set of guidelines on how a family or community member can assist an Aboriginal or Torres Strait Islander person with gambling problems. Building on a previous systematic review of websites, books and journal articles a questionnaire was developed that contained items about the knowledge, skills and actions needed for supporting an Aboriginal or Torres Strait Islander person with gambling problems. These items were rated over three rounds by an expert panel comprising professionals who provide treatment to or conduct research with Aboriginal and Torres Strait Islander people with gambling problems. A total of 22 experts rated 407 helping statements according to whether they thought the statements should be included in these guidelines. There were 225 helping statements that were endorsed by at least 90% of participants. These endorsed statements were used to develop the guidelines. Experts were able to reach substantial consensus on how someone can recognise the signs of gambling problems and support an Aboriginal or Torres Strait Islander person to change.

  2. Claves para el conocimiento de la configuración espacial de una torre banderiza: la Torre de Murga (siglos XIV-XV

    Directory of Open Access Journals (Sweden)

    García Gómez, Ismael

    2003-12-01

    Full Text Available This work schematically presents the results of archaeological analysis of the torre banderiza (a type of tower particular to the Basque Country of Murga (Ayala, Álava and makes use of these —in combination with results found at similar towers— to establish a proposal of interpretation of the spatial basis of this type of tower. The work highlights, among other aspects, the importance of the platform/ scaffold and the inexistence of ground floor access in this type of construction. Lastly the work summarises the criteria which, in the authors’ opinion, should be followed in analysing a tower of these characteristics.En este trabajo se presentan esquemáticamente los resultados del análisis arqueológico de la torre banderiza de Murga (Ayala, Álava, y se hace uso de ellos —en combinación con los resultados arrojados por otras torres similares— para establecer una propuesta de interpretación de la articulación espacial de este tipo de edificaciones. Entre otras cosas se resalta la importancia del cadalso y la inexistencia de un acceso por la planta baja. Finalmente se reseñan los criterios que, a juicio de los autores, deben ser seguidos a la hora de analizar una torre de estas características.

  3. Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome.

    Science.gov (United States)

    Knaudt, Björn; Volz, Thomas; Krug, Markus; Burgdorf, Walter; Röcken, Martin; Berneburg, Mark

    2012-01-01

    The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

  4. Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

    Science.gov (United States)

    McVeigh, Terri P; Banka, Siddharth; Reardon, William

    2015-10-01

    Kabuki syndrome is a rare genetic malformation syndrome that is characterized by distinct facies, structural defects and intellectual disability. Kabuki syndrome may be caused by mutations in one of two histone methyltransferase genes: KMT2D and KDM6A. We describe a male child of nonconsanguineous Irish parents presenting with multiple malformations, including bilateral extreme microphthalmia; cleft palate; congenital diaphragmatic hernia; duplex kidney; as well as facial features of Kabuki syndrome, including interrupted eyebrows and lower lid ectropion. A de-novo germline mutation in KMT2D was identified. Whole-exome sequencing failed to reveal mutations in any of the known microphthalmia/anopthalmia genes. We also identified four other patients with Kabuki syndrome and microphthalmia. We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. Children presenting with microphthalmia/anophthalmia should be examined closely for other signs of Kabuki syndrome, especially at an age where the facial gestalt might be less readily appreciable.

  5. Needs of Aboriginal and Torres Strait Islander clients residing in Australian residential aged-care facilities.

    Science.gov (United States)

    Brooke, Nicole J

    2011-08-01

    This review was undertaken to identify evidence-based practice guidelines to support the care needs of Aboriginal and Torres Strait Islander clients residing in residential aged-care facilities. A systematic literature review was undertaken. An electronic search of online databases and subsequent manual retrieval process was undertaken to identify relevant reports and studies that explored interventions for care of an Aboriginal and Torres Strait Islander person. Very limited published material identified strategies necessary within residential aged care. Sixty-seven articles were considered for inclusion, and a subsequent review resulted in 34 being included due to direct alignment with the study aim. Strategies recommended within the review cover areas such as care, communication, palliative care, activities and the environment. Care for an Aboriginal and Torres Strait Islander person in an Australian residential aged-care facility requires a collaborative and individual approach. Cultural safety principles should be maintained across a culturally competent workforce. Aboriginal and Torres Strait Islander persons in care is a significant experience that should not be considered 'routine' as there is much to consider in the care of this person and their community. © 2011 The Author. Australian Journal of Rural Health © National Rural Health Alliance Inc.

  6. Outpatient alcohol withdrawal management for Aboriginal and Torres Strait Islander peoples.

    Science.gov (United States)

    Brett, Jonathan; Lawrence, Leanne; Ivers, Rowena; Conigrave, Kate

    2014-08-01

    There is concern from within Aboriginal and Torres Strait Islander communities about the lack of access to alcohol withdrawal management ('detox') services. Outpatient detox is described within national Australian guidelines as a safe option for selected drinkers. However, uncertainly exists as to how suited Aboriginal and Torres Strait Islander peoples are to this approach. 
 Consultations were conducted with stakeholders of four health services providing outpatient detox for Aboriginal and Torres Strait Islander peoples in NSW. Thematic analysis was performed to determine elements perceived as important for success. Key themes that emerged were individual engagement, flexibility, assessment of suitability, Aboriginal staff and community engagement, practical support, counselling, staff education and support, coping with relapse and contingency planning. 
 There is a need to improve access to alcohol detox services for Aboriginal and Torres Strait Islander peoples. The outpatient setting seems to be a feasible and safe environment to provide this kind of service for selected drinkers.

  7. Chamaebatiaria millefolium (Torr.) Maxim.: fernbush

    Science.gov (United States)

    Nancy L. Shaw; Emerenciana G. Hurd

    2008-01-01

    Fernbush - Chamaebatiaria millefolium (Torr.) Maxim. - the only species in its genus, is endemic to the Great Basin, Colorado Plateau, and adjacent areas of the western United States. It is an upright, generally multistemmed, sweetly aromatic shrub 0.3 to 2 m tall. Bark of young branches is brown and becomes smooth and gray with age. Leaves are leathery, alternate,...

  8. Torres Strait: A channel clearing project

    International Nuclear Information System (INIS)

    Bankert, Stanley

    1970-01-01

    The Torres Strait is a reef-laden stretch of water lying south of New Guinea and north of the tip of the Cape York Peninsula of northeastern Australia. Because of its location and geologic structure it is particularly hazardous to shipping, and limits passage through the area. It was suggested that nuclear explosives might be used to create a safe shipping channel through the strait, and in this paper that possibility will be explored. While the construction of the Torres Strait Channel appears feasible from both a technical and an economic point of view, a great deal of further research will have to be done in a number of areas. The Channel would be a great economic boost to northwestern Australia and to trade between southeast Asia and Australia, but its effect on the Great Barrier Reef and the people of the region will require serious consideration

  9. Torres Strait: A channel clearing project

    Energy Technology Data Exchange (ETDEWEB)

    Bankert, Stanley [Department of Applied Science, University of California - Davis (United States)

    1970-05-15

    The Torres Strait is a reef-laden stretch of water lying south of New Guinea and north of the tip of the Cape York Peninsula of northeastern Australia. Because of its location and geologic structure it is particularly hazardous to shipping, and limits passage through the area. It was suggested that nuclear explosives might be used to create a safe shipping channel through the strait, and in this paper that possibility will be explored. While the construction of the Torres Strait Channel appears feasible from both a technical and an economic point of view, a great deal of further research will have to be done in a number of areas. The Channel would be a great economic boost to northwestern Australia and to trade between southeast Asia and Australia, but its effect on the Great Barrier Reef and the people of the region will require serious consideration.

  10. Marine resources, biophysical processes, and environmental management of a tropical shelf seaway: Torres Strait, Australia Introduction to the special issue

    Science.gov (United States)

    Harris, P. T.; Butler, A. J.; Coles, R. G.

    2008-09-01

    This special issue of Continental Shelf Research contains 20 papers giving research results produced as part of Australia's Torres Strait Co-operative Research Centre (CRC) Program, which was funded over a three-year period during 2003-2006. Marine biophysical, fisheries, socioeconomic-cultural and extension research in the Torres Strait region of northeastern Australia was carried out to meet three aims: 1) support the sustainable development of marine resources and minimize impacts of resource use in Torres Strait; 2) enhance the conservation of the marine environment and the social, cultural and economic well being of all stakeholders, particularly the Torres Strait peoples; and 3) contribute to effective policy formulation and management decision making. Subjects covered, including commercial and traditional fisheries management, impacts of anthropogenic sediment inputs on seagrass meadows and communication of science results to local communities, have broad applications to other similar environments.

  11. Draft genome sequence of Bacillus velezensis 2A-2B strain: a rhizospheric inhabitant of Sporobolus airoides (Torr.) Torr., with antifungal activity against root rot causing phytopathogens.

    Science.gov (United States)

    Martínez-Raudales, Inés; De La Cruz-Rodríguez, Yumiko; Alvarado-Gutiérrez, Alejandro; Vega-Arreguín, Julio; Fraire-Mayorga, Ahuitz; Alvarado-Rodríguez, Miguel; Balderas-Hernández, Victor; Fraire-Velázquez, Saúl

    2017-01-01

    A Bacillus velezensis strain from the rhizosphere of Sporobolus airoides (Torr.) Torr . , a grass in central-north México, was isolated during a biocontrol of phytopathogens scrutiny study. The 2A-2B strain exhibited at least 60% of growth inhibition of virulent isolates of phytopathogens causing root rot. These phytopathogens include Phytophthora capsici , Fusarium solani , Fusarium oxysporum and Rhizoctonia solani . Furthermore, the 2A-2B strain is an indolacetic acid producer, and a plant inducer of PR1, which is an induced systemic resistance related gene in chili pepper plantlets. Whole genome sequencing was performed to generate a draft genome assembly of 3.953 MB with 46.36% of GC content, and a N50 of 294,737. The genome contains 3713 protein coding genes and 89 RNA genes. Moreover, comparative genome analysis revealed that the 2A-2B strain had the greatest identity (98.4%) with Bacillus velezensis.

  12. Literatura y pintura. Jusep Torres Campanals, una novela cubista

    Directory of Open Access Journals (Sweden)

    Vílchez Ruiz, Carmen E

    2007-08-01

    Full Text Available This article presents a study of the relation between the arts of literature and painting, from the interdisciplinary point of view. Focused on the structural analysis of Max Aub’s novel Jusep Torres Campanals, we will see how this work represents the translation of cubist painting’s aesthetics into the literary discourse. Through this analysis we will be able to prove how the narrative discourse’s decompositive technique, as used in a cubist painting, shows Jusep Torres Campanals as a fascinating dialogic dimension between truth and falseness, between painting and writing. Setting the reader again before the reflection of the old dialogue between literature and painting.Este artículo se presenta desde la perspectiva interdisciplinar del estudio de las relaciones entre dos artes, la Literatura y la Pintura, centrándose en el análisis estructural de la novela de Max Aub, Jusep Torres Campanals, tras el que observaremos cómo esta obra supone la traslación de la estética de la pintura cubista al discurso literario. A lo largo del análisis podremos comprobar, pues, cómo la técnica de descomposición del discurso narrativo, a la manera de un cuadro cubista, convierte a Jusep Torres Campanals, en un fascinante espacio de diálogo entre la verdad y la mentira, la pintura y la escritura, situándonos de nuevo ante la reflexión del antiguo diálogo entre la Literatura y la Pintura.

  13. The TorR High-Affinity Binding Site Plays a Key Role in Both torR Autoregulation and torCAD Operon Expression in Escherichia coli

    OpenAIRE

    Ansaldi, Mireille; Simon, Gwénola; Lepelletier, Michèle; Méjean, Vincent

    2000-01-01

    In the presence of trimethylamine N-oxide (TMAO), the TorS-TorR two-component regulatory system induces the torCAD operon, which encodes the TMAO respiratory system of Escherichia coli. The sensor protein TorS detects TMAO and transphosphorylates the response regulator TorR which, in turn, activates transcription of torCAD. The torR gene and the torCAD operon are divergently transcribed, and the short torR-torC intergenic region contains four direct repeats (the tor boxes) which proved to be ...

  14. Aboriginal and Torres Strait Islander community governance of health research: Turning principles into practice.

    Science.gov (United States)

    Gwynn, Josephine; Lock, Mark; Turner, Nicole; Dennison, Ray; Coleman, Clare; Kelly, Brian; Wiggers, John

    2015-08-01

    Gaps exist in researchers' understanding of the 'practice' of community governance in relation to research with Aboriginal and Torres Strait Islander peoples. We examine Aboriginal community governance of two rural NSW research projects by applying principles-based criteria from two independent sources. One research project possessed a strong Aboriginal community governance structure and evaluated a 2-year healthy lifestyle program for children; the other was a 5-year cohort study examining factors influencing the mental health and well-being of participants. The National Health and Medical Research Council of Australia's 'Values and ethics: guidelines for ethical conduct in Aboriginal and Torres Strait Islander research' and 'Ten principles relevant to health research among Indigenous Australian populations' described by experts in the field. Adopt community-based participatory research constructs. Develop clear governance structures and procedures at the beginning of the study and allow sufficient time for their establishment. Capacity-building must be a key component of the research. Ensure sufficient resources to enable community engagement, conduct of research governance procedures, capacity-building and results dissemination. The implementation of governance structures and procedures ensures research addresses the priorities of the participating Aboriginal and Torres Strait Islander communities, minimises risks and improves outcomes for the communities. Principles-based Aboriginal and Torres Strait Islander community governance of research is very achievable. Next steps include developing a comprehensive evidence base for appropriate governance structures and procedures, and consolidating a suite of practical guides for structuring clear governance in health research. © 2015 National Rural Health Alliance Inc.

  15. Hand-in-hand with Hélène Cixous: A re-vision of the work of scottish writers Willa Muir, Jessie Kesson and Janice Galloway

    OpenAIRE

    Armental Romero, María Dolores

    2016-01-01

    [Abstract] In the early years of the twentieth century, Willa Muir warned women of their own self-destruction if they aligned themselves with the power of the Self that came to them, which was imposed by the ‘Law of the Father,’ the authority represented by a Calvinist religion based on the coldness of rationality and on the value of human beings measured according to their productivity, and by a Church that regarded the world of emotions as profane, an evil that had to be r...

  16. Very high-power electron-beam transport in long gas cells from 10-3 to 103 Torr N2

    International Nuclear Information System (INIS)

    Sanford, T.W.L.

    1994-01-01

    Measurements and analyses show that the 13-TW, pulsed Hermes-III electron beam, with current near the Alfven limit, has two regimes of stable transport: a low-pressure window (between ∼1 and ∼100 mTorr) that is dominated by propagation in the semi-collisionless IFR (ion-focused regime), and a high-pressure window (between ∼1 and ∼100 Torr) that is dominated by propagation in the resistive CDR (collision-dominated regime). Propagation in both regimes (the IFR at early time and the CDR at later time) is observed from ∼10 to ∼100 mTorr. Below ∼1 mTorr, there is insufficient ionization to confine the beam. As the pressure increases, two-stream instabilities terminate IFR propagation earlier in time. Above 10 mTorr, this instability is sufficiently quenched by gas collisions that CDR propagation in the beam body occurs. Above ∼100 mTorr, the gas breaks down too rapidly for a significant IFR pulse to form, and for higher pressures only a single pulse in the CDR is propagated. Between ∼100 mTorr and ∼1 Torr, however, the hollowing instability and lack of magnetic confinement limit CDR propagation, and above ∼100 Torr, the resistive hose instability again degrades propagation

  17. Torres Blancas

    Directory of Open Access Journals (Sweden)

    José Manuel López-Peláez

    2016-01-01

    Full Text Available Nella Madrid degli anni sessanta l’architetto navarro Sáenz de Oíza sperimenta la costruzione di un edificio residenziale a torre in cemento armato. Risultato della felice relazione con un imprenditore mecenate, Juan Huarte, l’edificio si articola nella variazione tipologica di alloggi ad L e duplex, di locali per uffici e servizi, fino agli spazi ad uso comune, come la piscina e il ristorante della terrazza sul tetto, per proporsi come modello di piccola città autosufficiente. / In 1960s Madrid, the Navarrese architect Sáenz de Oíza tried constructing a residential tower in reinforced concrete. The happy result of a partnership with an entrepreneur patron, Juan Huarte, the building is split into L-shaped dwellings and duplexes, rooms for offices and services, as well as communal spaces, such as a swimming pool and a restaurant on the roof terrace, to exemplify a model of a small, self-sufficient town.

  18. Grúas-torre

    Directory of Open Access Journals (Sweden)

    Chinchilla, M.

    1964-09-01

    Full Text Available The current large volume of construction, and the new building methods, including large scale préfabrication, have made it necessary to develop adequate machinery to cope with the new requirements. These include the quick distribution of materials and the lifting of large and heavy items. One of these machines which has now attained a widespread use is the tower crane, both of the fixed and moveable type, either on tyres, rails, or of the climbing type. Although these cranes have been known for the last fifty years, their full development only began after the last World War. Their most usual features and varieties make it possible to classify these cranes in a table, which includes most of the models now in standard use.Los nuevos volúmenes de edificación, y los nuevos sistemas, como la prefabricación, han exigido el desarrollo de la maquinaria auxiliar correspondiente, con el fin de poder cubrir las necesidades de alimentación de la obra, reparto de materiales y elevación de cargas y piezas voluminosas. Entre las máquinas auxiliares que h a n obtenido una verdadera mayoría, de edad se encuentran las grúas-torre, fijas, móviles sobre neumáticos o carriles y trepadoras, las cuales, pese a ser conocidas y empleadas desde los años 10, han encontrado su verdadero campo de aplicación después de la segunda guerra mundial. Sus características más comunes respecto a elementos que constituyen la mayor parte de los modelos, permiten agruparlas en una tabla en la que quedan incluidas casi todas las de uso normal.

  19. Calixto Torres Umaña

    Directory of Open Access Journals (Sweden)

    Pablo Gómez Martinez

    1985-12-01

    Full Text Available

    Hago uso de esta tribuna en mi doble carácter de Presidente de la Academia Nacional de Medicina y por la gentil invitación que me hiciera el Coordinador del Comité Organizador de esta celebración, el Académico Jorge Camacho Gamba.

    Y lo hago por dos motivos fundamentales: porque la Academia no podía dejar de hacer oír su voz en esta solemne ocasión y porque no podía estar ausente en el sentido homenaje en que se honra la memoria de uno de sus hijos más ilustres: el Profesor Calixto Torres Umaña.
    Me asalta, eso sí, el temor de no poder cumplir a cabalidad mi propósito de enaltecer su nombre o hacer siquiera, una síntesis aproximada de sus eximias cualidades humanas y de sus grandes virtudes ciudadanas. Pero otros mucho más capacitados que ye en el uso del idioma y del conocimiento, seencargarán de transmitir a los oyentes, en frases grávidas de justicia y sentimiento, los extraordinarios méritos que colmaron y enriquecieron la vida del Profesor Calixto Torres Umaña.

    No soy el más calificado para juzgar la personalidad atrayente y la extraordinaria labor que desarrolló durante su existencia. Ni tampoco para hacer un breve comentario de su brillante hoja de vida y de sus numerosas publicaciones, lo cual harán los oradores que me siguen, muy bien documentados y calificados para ello. Me limitaré, pues, a destacar con la mejor intención posible y mayor deseo de acertar, los rasgos más sobresalientes que llamaron mi atención y que lo destacaron como pensador y maestro, como investigador y científico; como profesional y colega; como hombre y como amigo. El ilustre profesional que respondió al nombre de Calixto Torres Umaña, nació en Tunja el 13 de agosto de 1885. Vástago de una ilustre familia, inició sus estudios de bachillerato en el Colegio Boyacá y luego pasó a la Universidad Nacional, de donde egresó como Doctor en Medicina y Cirugía en el año de 1913...

  20. Ten years of the Tiger: Aedes albopictus presence in Australia since its discovery in the Torres Strait in 2005

    Directory of Open Access Journals (Sweden)

    Andrew F. van den Hurk

    2016-12-01

    Full Text Available The “Asian tiger mosquito”, Aedes albopictus, is highly invasive, an aggressive biter and a major arbovirus vector. It is not currently present on mainland Australia despite being intercepted on numerous occasions at international ports and infesting the Torres Strait of Australia since at least 2004. In the current paper, we describe the invasion and current status of Ae. albopictus in the Torres Strait, as well as research conducted to assess the threat of this species becoming established in arbovirus transmission cycles on the Australian mainland. Genetic analysis of the invading population demonstrated that the Indonesian region was the likely origin of the invasion and not Papua New Guinea (PNG as initially suspected. There was also intermixing between Torres Strait, PNG and Indonesian populations, indicating that the species could be re-introduced into the Torres Strait compromising any successful eradication programme. Vector competence experiments with endemic and exotic viruses revealed that Ae. albopictus from the Torres Strait are efficient alphavirus vectors, but less efficient flavivirus vectors. Ae. albopictus obtains blood meals from a range of vertebrate hosts (including humans, indicating that it could play a role in both zoonotic and human-mosquito arbovirus transmission cycles in Australia. Predictive models coupled with climate tolerance experiments suggest that a Torres Strait strain of Ae. albopictus could colonise southern Australia by overwintering in the egg stage before proliferating in the warmer months. Cohabitation experiments demonstrated that the presence of Aedes notoscriptus larvae in containers would not prevent the establishment of Ae. albopictus. Evidence from these studies, coupled with global experience suggests that we need to be prepared for the imminent invasion of Australia by Ae. albopictus by thoroughly understanding its biology and being willing to embrace emerging control technologies.

  1. Recuerdo y presencia del profesor Calixto Torres Umaña

    Directory of Open Access Journals (Sweden)

    Alberto Amaris Mora

    1986-01-01

    Full Text Available El 13 de Agosto de 1.985 se cumplió el primer centenario del nacimiento del Profesor Calixto Torres Umaña en la ilustre y señorial ciudad de Tunja, primero de los cuatro hijos que llegaron al hogar del matrimonio constituído por el médico Severo Torres Barreto y doña Ana Josefa Umaña Quijano. El mundo médico en general, pero particularmente el que se halla vinculado al área pediátrica de la Facultad de Medicina de la Universidad Nacional, recordó el hecho con especial solemnidad y devoción científica.

  2. Deadly progress: changes in Australian Aboriginal and Torres Strait Islander adult daily smoking, 2004–2015

    Directory of Open Access Journals (Sweden)

    Raymond Lovett

    2017-12-01

    Full Text Available Background: Tobacco smoking is the leading contributor to the burden of disease among Aboriginal and Torres Strait Islander Australians. Reducing tobacco use in this population is a public health priority. Precise monitoring of smoking prevalence trends is central to implementation and evaluation of effective tobacco control. The way in which trends are reported influences understanding of the extent of progress, with potential implications for policy. Our objective was to quantify absolute changes in Aboriginal and Torres Strait Islander adult (≥18 years old daily tobacco smoking prevalence from 2004 to 2015, including comparisons with the total Australian population, and by age, sex and remoteness. Methods: We analysed multiple nationally representative surveys of the Aboriginal and Torres Strait Islander, and total Australian, population conducted from 2004 to 2015. Aligned with strength-based approaches, we applied a progress frame, focusing on absolute differences in smoking prevalence within the Aboriginal and Torres Strait Islander population. Results: The prevalence of current daily smoking among Aboriginal and Torres Strait Islander adults nationally was 50.0% (95% confidence interval [CI] 47.9, 52.2 in 2004–05 and 41.4% (95% CI 39.1, 43.6 in 2014–15, representing an absolute prevalence decrease of 8.6 percentage points (95% CI 5.5, 11.8 over the past decade. This is comparable with the 6.8 percentage point (95% CI 5.6, 7.9 decrease in smoking prevalence in the total Australian population over the same period, from 21.3% in 2004–05 (95% CI 20.5, 22.0 to 14.5% in 2014–15 (95% CI 13.6, 15.4. Particular success in reducing Aboriginal and Torres Strait Islander daily smoking was observed among younger age groups, with a decrease of 13.2 percentage points for 18–24-year-olds (95% CI 5.9, 20.4, 9.0 percentage points for 25–34-year-olds (95% CI 2.7, 15.3 and 8.7 percentage points for 35–44-year-olds (95% CI 2.6, 14.8. Smoking

  3. Cardiorenal metabolic syndrome in the African diaspora: rationale for including chronic kidney disease in the metabolic syndrome definition.

    Science.gov (United States)

    Lea, Janice P; Greene, Eddie L; Nicholas, Susanne B; Agodoa, Lawrence; Norris, Keith C

    2009-01-01

    Chronic kidney disease (CKD) is more likely to progress to end-stage renal disease (ESRD) in African Americans while the reasons for this are unclear. The metabolic syndrome is a risk factor for the development of diabetes, cardiovascular disease, and has been recently linked to incident CKD. Historically, fewer African Americans meet criteria for the definition of metabolic syndrome, despite having higher rates of cardiovascular mortality than Caucasians. The presence of microalbuminuria portends increased cardiovascular risks and has been shown to cluster with the metabolic syndrome. We recently reported that proteinuria is a predictor of CKD progression in African American hypertensives with metabolic syndrome. In this review we explore the potential value of including CKD markers--microalbuminuria/proteinuria or low glomerular filtration rate (GFR)-in refining the cluster of factors defined as metabolic syndrome, ie, "cardiorenal metabolic syndrome."

  4. Exploration of Aboriginal and Torres Strait Islander perspectives of Home Medicines Review.

    Science.gov (United States)

    Swain, Lindy S; Barclay, Lesley

    2015-01-01

    In Australia, Home Medicines Review (HMR) has been found to be an important tool to raise awareness of medication safety, reduce adverse events and improve medication adherence. Aboriginal and Torres Strait Islander people are 'underserviced' by the HMR program and are the most likely of all Australians to miss out on HMRs despite their high burden of chronic disease and high rates of hospitalisation due to medication misadventure. The goal of this study was to explore Aboriginal and Torres Strait Islander perspectives of the Home Medicines Review program and their suggestions for an 'improved' or more readily accessible model of service. Eighteen semi-structured focus groups were conducted with 102 Aboriginal and Torres Strait Islander patients at 11 Aboriginal Health Services (AHSs). Participants who were multiple medication users and understood English were recruited to the study by AHS staff. Seven focus groups were conducted for people who had already used the HMR program (User, n=23) and 11 focus groups were conducted for people who had not had an HMR (Non User, n=79). Focus groups were recorded, de-identified and transcribed. Transcripts were coded and analysed for themes. Focus groups continued and concepts were explored until no new findings were being generated and thus saturation of data occurred. Focus group participants who had not had an HMR had little or no awareness of the HMR program. All the participants felt that lack of awareness and promotion of the HMR program were contributing factors to the low uptake of the HMR program by Aboriginal and Torres Strait Islander people. Most participants felt that an HMR would assist them to better understand their medicines, would empower them to seek information about medicines, would improve relationships with health professionals and would increase the likelihood of medication adherence. Most of the User participants reported that the HMR interview had been very useful for learning more about their

  5. Phenotypes in defined genotypes including siblings with Usher syndrome.

    Science.gov (United States)

    Malm, Eva; Ponjavic, Vesna; Möller, Claes; Kimberling, William J; Andréasson, Sten

    2011-06-01

    To characterize visual function in defined genotypes including siblings with Usher syndrome. Thirteen patients with phenotypically different subtypes of Usher syndrome, including 3 families with affected siblings, were selected. Genetic analysis and ophthalmological examinations including visual fields, full-field electroretinography (ERG), multifocal electroretinography (mf ERG), and optical coherence tomography (OCT) were assessed. The patients' degree of visual handicap was evaluated by a questionnaire (ADL). Twelve of thirteen patients were genotyped as Usher 1B, 1D, 1F, 2A, 2C or 3A. In 12 of 13 patients examined with ERG the 30 Hz flickering light response revealed remaining cone function. In 3 of the patients with Usher type 1 mf ERG demonstrated a specific pattern, with a sharp distinction between the area with reduced function and the central area with remaining macular function and normal peak time. OCT demonstrated loss of foveal depression with distortion of the foveal architecture in the macula in all patients. The foveal thickness ranged from 159 to 384 µm and was not correlated to retinal function. Three siblings shared the same mutation for Usher 2C but in contrast to previous reports regarding this genotype, 1 of them diverged in phenotype with substantially normal visual fields, almost normal OCT and mf ERG findings, and only moderately reduced rod and cone function according to ERG. Evaluation of visual function comprising both the severity of the rod cone degeneration and the function in the macular region confirm phenotypical heterogeneity within siblings and between different genotypes of Usher syndrome.

  6. Understanding practitioner professionalism in Aboriginal and Torres Strait Islander health: lessons from student and registrar placements at an urban Aboriginal and Torres Strait Islander primary healthcare service.

    Science.gov (United States)

    Askew, Deborah A; Lyall, Vivian J; Ewen, Shaun C; Paul, David; Wheeler, Melissa

    2017-10-01

    Aboriginal and Torres Strait Islander peoples continue to be pathologised in medical curriculum, leaving graduates feeling unequipped to effectively work cross-culturally. These factors create barriers to culturally safe health care for Aboriginal and Torres Strait Islander peoples. In this pilot pre-post study, the learning experiences of seven medical students and four medical registrars undertaking clinical placements at an urban Aboriginal and Torres Strait Islander primary healthcare service in 2014 were followed. Through analysis and comparison of pre- and post-placement responses to a paper-based case study of a fictitious Aboriginal patient, four learning principles for medical professionalism were identified: student exposure to nuanced, complex and positive representations of Aboriginal peoples; positive practitioner role modelling; interpersonal skills that build trust and minimise patient-practitioner relational power imbalances; and knowledge, understanding and skills for providing patient-centred, holistic care. Though not exhaustive, these principles can increase the capacity of practitioners to foster culturally safe and optimal health care for Aboriginal peoples. Furthermore, competence and effectiveness in Aboriginal health care is an essential component of medical professionalism.

  7. TORR system polishes oily water clean

    International Nuclear Information System (INIS)

    Mowers, J.

    2002-01-01

    The TORR (total oil recovery and remediation) system utilizes a specially patented polymer material, similar to styrofoam, which is used to get rid of non-soluble hydrocarbons from water. An application in Fort Smith, Northwest Territories, is described where it was used to recover diesel oil, which had been seeping into the groundwater over a period of 20 years. About 100,000 gallons of heating oil had leached into the water; TORR removed the non-soluble hydrocarbons, while another piece of equipment removed the soluble portions. After treatment the water tested consistently at non-detectable levels and was clean enough to be discharged into the town's sewer system. The system is considered ideal for oil spills clean-up underground, onshore, or the open sea, but it also has many potentially useful applications in industrial and oilfield applications. Water used in steam injection and water floods to produce heavy oil and SAGD applications are some of the obvious ones that come to mind. Cleaning up the huge tailings ponds at the mining and processing of oil sands, and removing diluent from water that is used to thin out bitumen in pipelines so that it can be transported to processing plants, are other promising areas of application. Several field trials to test the effectiveness of the system in these type of applications are scheduled for the summer and fall of 2002

  8. Defining the gap: a systematic review of the difference in rates of diabetes-related foot complications in Aboriginal and Torres Strait Islander Australians and non-Indigenous Australians.

    Science.gov (United States)

    West, Matthew; Chuter, Vivienne; Munteanu, Shannon; Hawke, Fiona

    2017-01-01

    The Aboriginal and Torres Strait Islander community has an increased risk of developing chronic illnesses including diabetes. Among people with diabetes, foot complications are common and make a significant contribution to the morbidity and mortality associated with this disease. The aim of this review was to systematically evaluate the literature comparing the rates of diabetes related foot complications in Aboriginal and Torres Strait Islander Australians to non-Indigenous Australians. MEDLINE, EMBASE, The Cochrane Library; PUBMED and CINAHL were searched from inception until August 2016. Inclusion criteria were: published cross-sectional or longitudinal studies reporting the prevalence of diabetes related foot complications in both a cohort of Aboriginal and Torres Strait Islander Australians and a cohort of one other Australian population of any age with diabetes. Risk of bias was assessed using the STROBE tool. Eleven studies including a total of 157,892 participants were included. Studies were set in Queensland, the Northern Territory and Western Australia, primarily in rural and remote areas. Aboriginal and Torres Strait Islander Australians experienced substantially more diabetes related foot complications with the mean age up to 14 years younger than non-Indigenous Australians. Aboriginality was associated with increased risk of peripheral neuropathy, foot ulceration and amputation. In several studies, Aboriginal and Torres Strait Islander Australians accounted for the vast majority of diabetes related foot complications (up to 91%) while comprising only a small proportion of the regional population. Reporting quality as assessed with the STROBE tool showed underreporting of: methods, sample description and potential sources of bias. There are no data available for some Australian states and for specific types of diabetes related foot complications. Aboriginal and Torres Strait Islander Australians have a 3-6 fold increased likelihood of experiencing a

  9. What are the legal dimensions to climate change in the Torres Strait?

    International Nuclear Information System (INIS)

    Green, Donna

    2007-01-01

    Full text: Full text: Climate change projections suggest that the Torres Strait Islands are one of the most vulnerable regions in Australia. This is due, in part, because several of the islands are only a metre or two above local mean sea level. Social and economic disadvantage further reduces the capacity to adapt to rapid environmental change, and so this problem is compounded on many of the Islands which lack adequate infrastructure, health services and employment opportunities. Consequently, considering the biophysical impacts in the socio-economic context is highly significant in order to understand - and hopefully improve - these communities' resilience to climate change. Cultural issues, not normally considered by natural scientists working on identifying climate impacts in human settlements, add increasing complexity to comprehending the full impacts of climate change in this location. Many Islanders connect the health of their land and sea country to their mental and physical wellbeing and, more broadly, their cultural integrity. In the longer term, the very existence of Ailan Kastom (Island Custom) may be threatened if projected sea level rise in combination with extreme weather events increases the frequency and/or severity of inundation incidents and necessitates relocation from the Islands. One other significant concern that has not been given appropriate consideration relates to the legal status of land (and sea) ownership. Over the last 15 years, the Torres Strait Islanders have successfully fought to obtain native title rights. Some Islanders are now concerned that these rights may disappear due to the impacts of climate change. In order to explore these issues, this paper provides: 1. a background to the climate change projections and likely direct and indirect impacts on the islands; and 2. a discussion of the legal dimension of the potential for climate change to impact on the native title rights of Torres Strait Islanders. We use the Torres

  10. Ramón Torres Méndez y la pintura de tipos y costumbres

    Directory of Open Access Journals (Sweden)

    Efraín Sánchez Cabra

    1991-09-01

    Full Text Available En 1940, al anunciar la publicación de 37 "escenas de costumbres" de Ramón Torres Méndez, la revista Cromos lo presentó como "el pintor más famoso de Colombia". A juzgar por casi un siglo de testimonios, Cromos no exageraba. Hasta mediados del siglo XX las "escenas de costumbres" de Torres Méndez fueron uno de los recursos más frecuentemente utilizados en los periódicos y revistas locales para la ilustración de relatos de viajes, descripciones de tradiciones y costumbres bogotanas y aun para la publicidad de industrias y casas comerciales. Hasta mediados del presente siglo, los escasos críticos y comentaristas del arte nacional fueron unánimes en situar a Torres Méndez como el pintor más notable de la Nueva Granada en el siglo XIX.

  11. Acceptability of Mental Health Apps for Aboriginal and Torres Strait Islander Australians: A Qualitative Study.

    Science.gov (United States)

    Povey, Josie; Mills, Patj Patj Janama Robert; Dingwall, Kylie Maree; Lowell, Anne; Singer, Judy; Rotumah, Darlene; Bennett-Levy, James; Nagel, Tricia

    2016-03-11

    Aboriginal and Torres Strait Islander Australians experience high rates of mental illness and psychological distress compared to their non-Indigenous counterparts. E-mental health tools offer an opportunity for accessible, effective, and acceptable treatment. The AIMhi Stay Strong app and the ibobbly suicide prevention app are treatment tools designed to combat the disproportionately high levels of mental illness and stress experienced within the Aboriginal and Torres Strait Islander community. This study aimed to explore Aboriginal and Torres Strait Islander community members' experiences of using two culturally responsive e-mental health apps and identify factors that influence the acceptability of these approaches. Using qualitative methods aligned with a phenomenological approach, we explored the acceptability of two culturally responsive e-mental health apps through a series of three 3-hour focus groups with nine Aboriginal and Torres Strait Islander community members. Thematic analysis was conducted and coresearcher and member checking were used to verify findings. Findings suggest strong support for the concept of e-mental health apps and optimism for their potential. Factors that influenced acceptability related to three key themes: personal factors (eg, motivation, severity and awareness of illness, technological competence, and literacy and language differences), environmental factors (eg, community awareness, stigma, and availability of support), and app characteristics (eg, ease of use, content, graphics, access, and security and information sharing). Specific adaptations, such as local production, culturally relevant content and graphics, a purposeful journey, clear navigation, meaningful language, options to assist people with language differences, offline use, and password protection may aid uptake. When designed to meet the needs of Aboriginal and Torres Strait Islander Australians, e-mental health tools add an important element to public health

  12. Interleukin-1 antagonists in the treatment of autoinflammatory syndromes, including cryopyrin-associated periodic syndrome

    Directory of Open Access Journals (Sweden)

    Pierre Quartier

    2011-01-01

    Full Text Available Pierre QuartierUnité d'Immunologie-Hématologie et Rhumatologie pédiatriques, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, FranceAbstract: Cryopyrin-associated periodic syndrome (CAPS include a group of rare autoinflammatory disorders, the spectrum of which ranges from the mildest form, ie, familial cold autoinflammatory syndrome to more severe phenotypes, ie, Muckle-Wells syndrome, and chronic infantile neurological cutaneous and articular syndrome, also known as neonatal-onset multisystem inflammatory disease. Three interleukin (IL-1 antagonists have been tested in adults and children with CAPS, ie, anakinra, a recombinant homolog of the human IL-1 receptor antagonist; rilonacept, a fusion protein comprising the extracellular domains of IL-1 receptor I and the IL-1 adaptor protein, IL-1RAcP, attached to a human immunoglobulin G molecule; and canakinumab, the anti-IL-1β monoclonal antibody. Following rapid clinical development, rilonacept and canakinumab were approved by both the US Food and Drug Administration and the European Medicines Agency for use in adults and children. This review describes how the study of CAPS has helped us to understand better the way the innate immune system works, the pathogenesis of autoinflammatory syndromes, and the key role of IL-1. It also reviews the effects of IL-1 blockade in CAPS and other disorders, in particular systemic juvenile idiopathic arthritis, adult-onset Still's disease, and gout. Finally, this review covers some issues addressed by very recent and ongoing work regarding treatment indications, from orphan diseases to common disorders, continuous versus intermittent treatment, the pharmacokinetics, pharmacodynamics, and optimal dosages of the different drugs, as well as the need for Phase IV trials, exhaustive registries, and long-term follow-up of several patient cohorts.Keywords: inflammation, interleukin-1, cytokines, treatment

  13. Measuring emotional and social wellbeing in Aboriginal and Torres Strait Islander populations: an analysis of a Negative Life Events Scale

    Directory of Open Access Journals (Sweden)

    Gunthorpe Wendy

    2007-11-01

    Full Text Available Abstract Aboriginal and Torres Strait Islander Australians experience widespread socioeconomic disadvantage and health inequality. In an attempt to make Indigenous health research more culturally-appropriate, Aboriginal and Torres Strait Islander Australians have called for more attention to the concept of emotional and social wellbeing (ESWB. Although it has been widely recognised that ESWB is of crucial importance to the health of Aboriginal and Torres Strait Islander peoples, there is little consensus on how to measure in Indigenous populations, hampering efforts to better understand and improve the psychosocial determinants of health. This paper explores the policy and political context to this situation, and suggests ways to move forward. The second part of the paper explores how scales can be evaluated in a health research setting, including assessments of endorsement, discrimination, internal and external reliability. We then evaluate the use of a measure of stressful life events, the Negative Life Events Scale (NLES, in two samples of Aboriginal people living in remote communities in the Northern Territory of Australia. We argue that the Negative Life Events Scale is a promising assessment of psychosocial wellbeing in Aboriginal and Torres Strait Islander populations. Evaluation of the scale and its performance in other samples of Aboriginal and Torres Strait Islander populations is imperative if we hope to develop better, rather than more, scales for measuring ESWB among Indigenous Australians. Only then will it be possible to establish standardized methods of measuring ESWB and develop a body of comparable literature that can guide both a better understanding of ESWB, and evaluation of interventions designed to improve the psychosocial health of Indigenous populations and decrease health inequalities.

  14. Defining the gap: a systematic review of the difference in rates of diabetes-related foot complications in Aboriginal and Torres Strait Islander Australians and non-Indigenous Australians

    Directory of Open Access Journals (Sweden)

    Matthew West

    2017-11-01

    Full Text Available Abstract Background The Aboriginal and Torres Strait Islander community has an increased risk of developing chronic illnesses including diabetes. Among people with diabetes, foot complications are common and make a significant contribution to the morbidity and mortality associated with this disease. The aim of this review was to systematically evaluate the literature comparing the rates of diabetes related foot complications in Aboriginal and Torres Strait Islander Australians to non-Indigenous Australians. Methods MEDLINE, EMBASE, The Cochrane Library; PUBMED and CINAHL were searched from inception until August 2016. Inclusion criteria were: published cross-sectional or longitudinal studies reporting the prevalence of diabetes related foot complications in both a cohort of Aboriginal and Torres Strait Islander Australians and a cohort of one other Australian population of any age with diabetes. Risk of bias was assessed using the STROBE tool. Results Eleven studies including a total of 157,892 participants were included. Studies were set in Queensland, the Northern Territory and Western Australia, primarily in rural and remote areas. Aboriginal and Torres Strait Islander Australians experienced substantially more diabetes related foot complications with the mean age up to 14 years younger than non-Indigenous Australians. Aboriginality was associated with increased risk of peripheral neuropathy, foot ulceration and amputation. In several studies, Aboriginal and Torres Strait Islander Australians accounted for the vast majority of diabetes related foot complications (up to 91% while comprising only a small proportion of the regional population. Reporting quality as assessed with the STROBE tool showed underreporting of: methods, sample description and potential sources of bias. There are no data available for some Australian states and for specific types of diabetes related foot complications. Conclusions Aboriginal and Torres Strait Islander

  15. Enhancing national data to align with policy objectives: Aboriginal and Torres Strait Islander smoking prevalence at finer geographic levels.

    Science.gov (United States)

    Wright, Alyson; Lovett, Ray; Roe, Yvette; Richardson, Alice

    2017-06-05

    Objectives The aim of the study was to assess the utility of national Aboriginal survey data in a regional geospatial analysis of daily smoking prevalence for Aboriginal and Torres Strait Islander Australians and discuss the appropriateness of this analysis for policy and program impact assessment. Methods Data from the last two Australian Bureau of Statistics (ABS) national surveys of Aboriginal and Torres Strait Islander people, the National Aboriginal and Torres Strait Islander Social Survey 2014-15 (n=7022 adults) and the National Aboriginal and Torres Strait Islander Health Survey 2012-13 (n=10896 adults), were used to map the prevalence of smoking by Indigenous regions. Results Daily smoking prevalence in 2014-15 at Indigenous regions ranges from 27.1% (95%CI 18.9-35.3) in the Toowoomba region in Queensland to 68.0% (95%CI 58.1-77.9) in the Katherine region in the Northern Territory. The confidence intervals are wide and there is no significant difference in daily smoking prevalence between the two time periods for any region. Conclusion There are significant limitations with analysing national survey data at finer geographical scales. Given the national program for Indigenous tobacco control is a regional model, evaluation requires finer geographical analysis of smoking prevalence to inform public health progress, policy and program effects. Options to improve the data currently collected include increasing national survey sample sizes, implementing a smoking status question in census surveys, investing in current cohort studies focused on this population or implementing localised surveys. What is known about the topic? The last geospatial analysis of Aboriginal and Torres Strait Islander smoking prevalence was undertaken in 1997. Current national survey data have not been analysed geospatially. What does this paper add? This paper provides new insights into the use of national survey data for understanding regional patterns and prevalence levels of smoking

  16. Using Metasynthesis to Develop Sensitising Concepts to Understand Torres Strait Islander Migration

    Directory of Open Access Journals (Sweden)

    Vinnitta Patricia Mosby

    2013-03-01

    Full Text Available Emerging research indicates that more and more Indigenous peoples will be forced to migrate due to climate change. Current responses focus on mitigation and adaptation strategies. One such group, Torres Strait Islander people are already moving for other reasons and existing vulnerabilities compound levels of disadvantage when moving. It will be important to understand Torres Strait Islander people’s experiences of contemporary movements in order to inform policy development and facilitate the process of migration and resettlement as movement increases. A synthesis of existing studies would allow the development of sensitising concepts that could inform future research in the Torres Strait Islander context. This article presents a metasynthesis of six qualitative studies of the experiences of different Indigenous and minority groups at various stages of migration, displacement and resettlement. Articles were selected on contemporary movements (2001-2011 and importantly the inclusion of first person voice. Reciprocal translation was used to synthesise common themes and a core construct. The overarching construct that became apparent from the metasynthesis was ‘continuity of being’ through staying connected to self, family and culture. Three themes emerged: ‘freedom to be’, ‘staying close’ and ‘forming anchor’. These were enacted through people valuing their personal, social, religious and political freedom and recognising the importance of maintaining or forming strong social and family networks. When researching the experiences of Torres Strait Islanders it will be necessary to focus on motivations for moving, and understand the processes for staying connected to kin and homeland in order to achieve the desired outcomes of successful resettlement under conditions of uncertainty.

  17. Stand-off laser-induced breakdown spectroscopy of aluminum and geochemical reference materials at pressure below 1 torr

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kang-Jae; Choi, Soo-Jin; Yoh, Jack J., E-mail: jjyoh@snu.ac.kr

    2014-11-01

    Laser-induced breakdown spectroscopy (LIBS) is an atomic emission spectroscopy that utilizes a highly irradiated pulse laser focused on the target surface to produce plasma. We obtain spectroscopic information from the microplasma and determine the chemical composition of the sample based on its elemental and molecular emission peaks. We develop a stand-off LIBS system to analyze the effect of the remote sensing of aluminum and various geochemical reference materials at pressures below 1 torr. Using a commercial 4 inch refracting telescope, our stand-off LIBS system is configured at a distance of 7.2 m from the four United States Geological Survey (USGS) geochemical samples that include granodiorite, quartz latite, shale-cody, and diabase, which are selected for planetary exploration. Prepared samples were mixed with a paraffin binder containing only hydrogen and carbon, and were pelletized for experimental convenience. The aluminum plate sample is considered as a reference prior to using the geochemical samples in order to understand the influence of a low pressure condition on the resulting LIBS signal. A Q-switched Nd:YAG laser operating at 1064 nm and pulsed at 10 Hz with 21.7 to 48.5 mJ/pulse was used to obtain signals, which showed that the geochemical samples were successfully detected by the present stand-off detection scheme. A low pressure condition generally results in a decrease of the signal intensity, while the signal to noise ratio can vary according to the samples and elements of various types. We successfully identified the signals at below 1 torr with stand-off detection by a tightly focused light detection and by using a relatively larger aperture telescope. The stand-off LIBS detection at low pressure is promising for potential detection of the minor elements at pressures below 1 torr. - Highlights: • Stand-off LIBS signals at below 1 torr are compared to those of in-situ conditions. • Vacuum condition provides easier detection of the

  18. Rem Koolhaas y la nueva Babel. De la torre metropolitana al monumento al vacío

    Directory of Open Access Journals (Sweden)

    José Antonio Tallón

    2015-05-01

    Full Text Available Un primer acercamiento a las reflexiones de Rem Koolhaas en torno a la tipología de torre introduce al rascacielos neoyorquino como la alegoría del “automonumen­to”: una construcción en esencia destinada a reafirmar su sola presencia y que se distingue del resto por medio de su estatura, que la monumentaliza. La torre de Babel, símbolo inquebrantable de la leyenda de la construcción en altura, escenifi­ca una historia de construcción y destrucción que está vinculada ineludiblemente al pensamiento crítico de Rem Koolhaas en torno a la torre como tipología desa­creditada. Un recorrido por las distintas “Babel” que Rem Koolhaas cataloga en el glosario de términos incluido en el texto SMLXL construye un discurso en torno a la destrucción de la torre bíblica y la construcción de la nueva Babel koolhaasiana que inicia su recorrido con el rascacielos para acabar reclamando un nuevo estado de monumentalidad: la ausencia en su estado más puro representado por el muro, el máximo ejemplo de ausencia como la forma más elevada de presencia monu­mental. Una mirada crítica que comienza con la torre metropolitana como la nueva Babel para finalizar con el muro como el monumento al vacío

  19. The Torre de los Secretos in the context of Baena Castle

    Directory of Open Access Journals (Sweden)

    José Manuel López Osorio

    2012-12-01

    Full Text Available The text addresses the structural consolidation carried out on the Torre de los Secretos of Baena Castle (Cordoba, as part of the restoration works planned for the castle complex. The intervention began with a comprehensive preliminary study that made it possible to glean rigorous knowledge of the materials and traditional building methods. The structural consolidation of this fabric, a mixture of masonry and rammed earth, was performed by means of a simple timber mesh system that remained concealed once the works were completed. The works also included the repair of the walls, showing the greatest possible respect for the existing materials and conserving the original textures and shapes.

  20. Reversal of subtidal dune asymmetries caused by seasonally reversing wind-driven currents in Torres Strait, northeastern Australia

    Science.gov (United States)

    Harris, Peter T.

    1991-07-01

    Large subtidal sand dunes (sandwaves) located in Adolphus Channel, Torres Strait, have been observed to reverse their asymmetric orientation between September-February. This has been attributed to a reversal in wind-driven currents, which flow westward during the SE trade season (April-November) and eastwards during the NW monsoon season [December-March: HARRIS (1989) Continental Shelf Research, 9, 981-1002]. Observations in September 1988 and February 1989 from another area of dunes in Torres Strait corroborate this asymmetry reversal pattern. The results indicate that such reversals may be common in Torres Strait and in other areas where subtidal bedforms are subject to modification by superimposed, seasonally reversing, wind-driven currents.

  1. [Effect of NaCl stress on ion compartmentation, photosynthesis and growth of Salicornia bigelovii Torr].

    Science.gov (United States)

    Wang, Li-Yan; Zhao, Ke-Fu

    2004-02-01

    Seedlings of Salicornia bigelovii Torr. were treated with different concentrations of NaCl (0, 100, 300, 600 mmol/L). Ion contents, Na(+) subcelluar localization, photosynthetic rate, ultrastructure of chloroplast and other parameters were measured. The data showed both fresh and dry weight of whole plant of Salicornia bigelovii Torr. under salinity were higher than the control. When NaCl concentration is about 300 mmol/L Salicornia bigelovii Torr. grow strongest. The contents of Na(+) and Cl(-) and c(Na)/c(K) in shoots increased with the salinity. Both Na(+) and Cl(-) were mainly transported to shoots. Ion X-ray microanalysis indicated Na(+) was mainly compartmentalized into vacuoles. Photosynthetic rate increased with the salinity under NaCl 100-300 mmol/L, but declined under NaCl 600 mmol/L. Ultrastructure of chloroplast was destroyed by NaCl 600 mmol/L.

  2. Understanding burn injuries in Aboriginal and Torres Strait Islander children: protocol for a prospective cohort study

    Science.gov (United States)

    Ivers, Rebecca Q; Hunter, Kate; Clapham, Kathleen; Coombes, Julieann; Fraser, Sarah; Lo, Serigne; Gabbe, Belinda; Hendrie, Delia; Read, David; Kimble, Roy; Sparnon, Anthony; Stockton, Kellie; Simpson, Renee; Quinn, Linda; Towers, Kurt; Potokar, Tom; Mackean, Tamara; Grant, Julian; Lyons, Ronan A; Jones, Lindsey; Eades, Sandra; Daniels, John; Holland, Andrew J A

    2015-01-01

    Introduction Although Aboriginal and Torres Strait Islander children in Australia have higher risk of burns compared with non-Aboriginal children, their access to burn care, particularly postdischarge care, is poorly understood, including the impact of care on functional outcomes. The objective of this study is to describe the burden of burns, access to care and functional outcomes in Aboriginal and Torres Strait Islander children in Australia, and develop appropriate models of care. Methods and analysis All Aboriginal and Torres Strait Islander children aged under 16 years of age (and their families) presenting with a burn to a tertiary paediatric burn unit in 4 Australian States (New South Wales (NSW), Queensland, Northern Territory (NT), South Australia (SA)) will be invited to participate. Participants and carers will complete a baseline questionnaire; follow-ups will be completed at 3, 6, 12 and 24 months. Data collected will include sociodemographic information; out of pocket costs; functional outcome; and measures of pain, itch and scarring. Health-related quality of life will be measured using the PedsQL, and impact of injury using the family impact scale. Clinical data and treatment will also be recorded. Around 225 participants will be recruited allowing complete data on around 130 children. Qualitative data collected by in-depth interviews with families, healthcare providers and policymakers will explore the impact of burn injury and outcomes on family life, needs of patients and barriers to healthcare; interviews with families will be conducted by experienced Aboriginal research staff using Indigenous methodologies. Health systems mapping will describe the provision of care. Ethics and dissemination The study has been approved by ethics committees in NSW, SA, NT and Queensland. Study results will be distributed to community members by study newsletters, meetings and via the website; to policymakers and clinicians via policy fora, presentations and

  3. Research methods of Talking About The Smokes: an International Tobacco Control Policy Evaluation Project study with Aboriginal and Torres Strait Islander Australians.

    Science.gov (United States)

    Thomas, David P; Briggs, Viki L; Couzos, Sophia; Davey, Maureen E; Hunt, Jennifer M; Panaretto, Kathryn S; van der Sterren, Anke E; Stevens, Matthew; Nicholson, Anna K; Borland, Ron

    2015-06-01

    To describe the research methods and baseline sample of the Talking About The Smokes (TATS) project. The TATS project is a collaboration between research institutions and Aboriginal community-controlled health services (ACCHSs) and their state and national representative bodies. It is one of the studies within the International Tobacco Control Policy Evaluation Project, enabling national and international comparisons. It includes a prospective longitudinal study of Aboriginal and Torres Strait Islander smokers and recent ex-smokers; a survey of non-smokers; repeated cross-sectional surveys of ACCHS staff; and descriptions of the tobacco policies and practices at the ACCHSs. Community members completed face-to-face surveys; staff completed surveys on paper or online. We compared potential biases and the distribution of variables common to the main community baseline sample and unweighted and weighted results of the 2008 National Aboriginal and Torres Strait Islander Social Survey (NATSISS). The baseline survey (Wave 1) was conducted between April 2012 and October 2013. 2522 Aboriginal and Torres Strait Islander people in 35 locations (the communities served by 34 ACCHSs and one community in the Torres Strait), and 645 staff in the ACCHSs. Sociodemographic and general health indicators, smoking status, number of cigarettes smoked per day and quit attempts. The main community baseline sample closely matched the distribution of the Aboriginal and Torres Strait Islander population in the weighted NATSISS by age, sex, jurisdiction and remoteness. There were inconsistent differences in some sociodemographic factors between our sample and the NATSISS: our sample had higher proportions of unemployed people, but also higher proportions who had completed Year 12 and who lived in more advantaged areas. In both surveys, similar percentages of smokers reported having attempted to quit in the past year, and daily smokers reported similar numbers of cigarettes smoked per day. The

  4. Fallugia paradoxa (D. Don) Endl. ex Torr.: Apache-plume

    Science.gov (United States)

    Susan E. Meyer

    2008-01-01

    The genus Fallugia contains a single species - Apache-plume, F. paradoxa (D. Don) Endl. ex Torr. - found throughout the southwestern United States and northern Mexico. It occurs mostly on coarse soils on benches and especially along washes and canyons in both warm and cool desert shrub communities and up into the pinyon-juniper vegetation type. It is a sprawling, much-...

  5. Small-signal gain spectrum of an 1800-torr CO2 amplifier

    International Nuclear Information System (INIS)

    Goldstein, J.C.; Haglund, R.F. Jr.; Comly, J.

    1981-01-01

    Prominent hot band effects have been observed in the 9.4 and 10.6 μm gain spectrum of an 1800 torr electron-beam-controlled-discharge CO 2 laser amplifier. Theoretical calculations agree well with data at 53 wavelengths

  6. [The effects of TorR protein on initiation of DNA replication in Escherichia coli].

    Science.gov (United States)

    Yuan, Yao; Jiaxin, Qiao; Jing, Li; Hui, Li; Morigen, Morigen

    2015-03-01

    The two-component systems, which could sense and respond to environmental changes, widely exist in bacteria as a signal transduction pathway. The bacterial CckA/CtrA, ArcA/ArcB and PhoP/PhoQ two-component systems are associated with initiation of DNA replication and cell division, however, the effects of the TorS/TorR system on cell cycle and DNA replication remains unknown. The TorS/TorR system in Escherichia coli can sense changes in trimethylamine oxide (TMAO) concentration around the cells. However, it is unknown if it also affects initiation of DNA replication. We detected DNA replication patterns in ΔtorS and ΔtorR mutant strains by flow cytometry. We found that the average number of replication origins (oriCs) per cell and doubling time in ΔtorS mutants were the same while the average number of oriCs in ΔtorR mutants was increased compared with that in wild-type cells. These results indicated that absence of TorR led to an earlier initiation of DNA replication than that in wild-type cells. Strangely, neither overexpression of TorR nor co-expression of TorR and TorS could restore ΔtorR mutant phenotype to the wild type. However, overexpression of SufD in both wild type and ΔtorR mutants promoted initiation of DNA replication, while mutation of SufD delayed it in ΔtorR mutants. Thus, TorR may affect initiation of DNA replication indirectly through regulating gene expression of sufD.

  7. Self-management programs for Aboriginal and Torres Strait Islander Peoples with chronic conditions: A rapid review.

    Science.gov (United States)

    Moore, Ellie; Lawn, Sharon; Oster, Candice; Morello, Andrea

    2017-01-01

    Objectives Review the evidence for the effectiveness of chronic condition self-management programs applied to Aboriginal and Torres Strait Islander Peoples. Methods A rapid review methodology was followed to develop an evidence summary from peer-reviewed and grey literature. Results Only seven peer-reviewed studies were identified. The evidence indicated that group programs, particularly the Stanford Program, and structured individual chronic condition self-management programs were of good quality for Aboriginal and Torres Strait Islander Peoples, although these need to be integrated into practice in order to see the greatest benefits. The Flinders Program showed promise as a standardised program with content designed specifically with and for these populations. Numerous grey literature sources were identified, many using strong participatory approaches developed locally within Aboriginal and Torres Strait Islander Peoples. However, few of these programs have been subject to rigorous evaluation. Discussion Despite the significant focus on chronic condition self-management programs to help address the burden of disease for Aboriginal and Torres Strait Islander Peoples, few studies exist that have been properly evaluated. The Closing the Gap Principles developed by the Australian Institute of Health and Welfare offer important guidance for how to proceed to maximise engagement, cultural appropriateness and ownership of program initiatives.

  8. Recall of anti-tobacco advertising and information, warning labels and news stories in a national sample of Aboriginal and Torres Strait Islander smokers.

    Science.gov (United States)

    Nicholson, Anna K; Borland, Ron; Sarin, Jasmine; Wallace, Sharon; van der Sterren, Anke E; Stevens, Matthew; Thomas, David P

    2015-06-01

    To describe recall of anti-tobacco advertising (mainstream and targeted), pack warning labels, and news stories among a national sample of Aboriginal and Torres Strait Islander smokers, and to assess the association of these messages with attitudes that support quitting, including wanting to quit. A quota sampling design was used to recruit participants from communities served by 34 Aboriginal community-controlled health services and one community in the Torres Strait. We surveyed 1643 Aboriginal and Torres Strait Islander smokers from April 2012 to October 2013. Frequency of recall of advertising and information, warning labels and news stories; recall of targeted and local advertising; attitudes about smoking and wanting to quit. More smokers recalled often noticing warning labels in the past month (65%) than recalled advertising and information (45%) or news stories (24%) in the past 6 months. When prompted, most (82%) recalled seeing a television advertisement. Just under half (48%) recalled advertising that featured an Aboriginal or Torres Strait Islander person or artwork (targeted advertising), and 16% recalled targeted advertising from their community (local advertising). Frequent recall of warning labels, news stories and advertising was associated with worry about health and wanting to quit, but only frequent advertising recall was associated with believing that society disapproves of smoking. The magnitude of association with relevant attitudes and wanting to quit increased for targeted and local advertising. Strategies to tackle Aboriginal and Torres Strait Islander smoking should sustain high levels of exposure to anti-tobacco advertising, news stories and warning labels. More targeted and local information may be particularly effective to influence relevant beliefs and subsequently increase quitting.

  9. Eduardo Torres Quintero: hombre y mito

    Directory of Open Access Journals (Sweden)

    Gustavo Páez Escobar

    1979-06-01

    Full Text Available Buscándole título a esta nota he demorado un homenaje que traigo en mente hace buen tiempo a la memoria de Eduardo Torres Quintero, muerto en Tunja, la tierra de sus luchas y de sus sueños, el 10 de mayo de 1973. Para mí el rótulo de un escrito es definitivo. Si coincide con mis vibraciones cerebrales, la materia se vuelve maleable y acaso logre también hallar dúctil el pensamiento; y si no consigo acuñar la inscripción mágica, la que incite el nervio preciso, las ideas se escaparán esquivas y volátiles.

  10. [Tics and Tourette syndrome in literature, cinema and television].

    Science.gov (United States)

    Collado-Vázquez, Susana; Carrillo, Jesús M

    2013-08-01

    Different neurological diseases have often been portrayed in literature, cinema and television. Tics and Tourette syndrome, for example, are commonly represented from different perspectives, which are sometimes very realistic but in some cases are used for more dramatic purposes or to make a character look ridiculous. One of the main effects of these inadequate views is to further stigmatise those who suffer these movement disorders. To review the way tics and Tourette syndrome have been portrayed in certain literary works, films and television. Tics are rapid, stereotypic, involuntary, recurring, non-purposeful movements of the skeletal and pharyngeal-laryngeal muscles. In Gilles de la Tourette syndrome a number of tics are associated to involuntary vocalisations (echolalia, coprolalia). They begin in childhood and are usually associated to obsessive-compulsive behaviours. These disorders have appeared in literature in works such as Little Dorrit, Angel Guerra, La torre de los siete jorobados or Motherless Brooklyn. Film-makers have also shown an interest in tics and Tourette syndrome and they have been portrayed in films such as Young and Innocent, The Tic Code or Matchstick Men. Likewise, a number of television series also contain characters with these disorders, including Shameless, Ally McBeal, Quincy, M.E. or L.A. Law. Tics and Tourette syndrome have frequently been portrayed in literature, cinema and television, sometimes in a very realistic manner. In other cases, however, the way they are dealt with has only helped to create false beliefs and stereotyped images of the disorders.

  11. Australian Aboriginal people and Torres Strait Islanders have an atherogenic lipid profile that is characterised by low HDL-cholesterol level and small LDL particles.

    Science.gov (United States)

    O'Neal, D N; Piers, L S; Iser, D M; Rowley, K G; Jenkins, A J; Best, J D; O'Dea, K

    2008-12-01

    To characterise lipid profiles for Australian Aboriginal people and Torres Strait Islanders. Community-based, cross-sectional surveys in 1995-1997 including: 407 female and 322 male Australian Aboriginal people and 207 female and 186 male Torres Strait Islanders over 15 years old. A comparator of 78 female (44 with diabetes) and 148 male (73 with diabetes) non-indigenous participants recruited to clinical epidemiological studies was used. Lipids were determined by standard assays and LDL diameter by gradient gel electrophoresis. Diabetes prevalence was 14.8% and 22.6% among Aboriginal people and Torres Strait Islanders, respectively. LDL size (mean [95% CI (confidence interval)]) was smaller (P<0.05) in non-diabetic Aboriginal (26.02 [25.96-26.07] nm) and Torres Strait Islander women (26.01 [25.92-26.09] nm) than in non-diabetic non-indigenous women (26.29 [26.13-26.44] nm). LDL size correlated (P<0.0005) inversely with triglyceride, WHR, and fasting insulin and positively with HDL-cholesterol. HDL-cholesterol (mean [95% CI] mmol/L) was lower (P<0.0005) in indigenous Australians than in non-indigenous subjects, independent of age, sex, diabetes, WHR, insulin, triglyceride, and LDL size: Aboriginal (non-diabetic women, 0.86 [0.84-0.88]; diabetic women, 0.76 [0.72-0.80]; non-diabetic men, 0.79 [0.76-0.81]; diabetic men, 0.76 [0.71-0.82]); Torres Strait Islander (non-diabetic women, 1.00 [0.95-1.04]; diabetic women, 0.89 [0.83-0.96]; non-diabetic men, 1.00 [0.95-1.04]; diabetic men, 0.87 [0.79-0.96]); non-indigenous (non-diabetic women, 1.49 [1.33-1.67]; diabetic women, 1.12 [1.03-1.21]; non-diabetic men, 1.18 [1.11-1.25]; diabetic men, 1.05 [0.98-1.12]). Indigenous Australians have a dyslipidaemia which includes small LDL and very low HDL-cholesterol levels. The dyslipidaemia was equally severe in both genders. Strategies aimed at increasing HDL-cholesterol and LDL size may reduce high CVD risk for indigenous populations.

  12. La Torre de Augusto en la Campa Torres (Gijón, Asturias. Las antiguas excavaciones y el epígrafe de Calpurnio Pisón

    Directory of Open Access Journals (Sweden)

    Fernández Ochoa, Carmen

    2005-12-01

    Full Text Available Through the historiographic data and the architectonic and archaeologic study of the Roman remains found during the 18th and 19th Centuries, today disappeared, we present here an hypothesis about the Augustean construction of a big tower in Campa Torres. This would be identified as a lighthouse controlling the entrance of the Gijón's bay. The commemorative stone of Cn. Calpurnius Piso (CIL II, 2703, dated on 9-10 AD, was founded in this building. We cannot accept the identification of this monument as one of the wellknown Arae Sestianae. This light-house, with a symbolic character as well a purpose of informing to the mariners the access of the harbour, would be erected in a militarized region recently conquered.Partiendo del análisis exhaustivo de la documentación historiográfica y del estudio arqueoarquitectónico de los restos arqueológicos exhumados en los siglos XVIII y XIX, hoy en día destruidos, planteamos la hipótesis de que en la Campa Torres se erigió en época augustea una gran torre con función de faro, que señalaba el acceso a la bahía de Gijón. Dicho monumento, del que procede la lapida calpurniana datada en el 9-10 d. C. (CIL II, 2703, no puede de ninguna manera interpretarse como una de las famosas Aras Sestianas. Con un carácter claramente simbólico, el faro constituiría un hito señalizador en el paisaje de una región militarizada y recientemente conquistada, además de desempeñar un claro papel de apoyo a la navegación cantábrica, al indicar la entrada al mejor puerto astur.

  13. Using cultural immersion as the platform for teaching Aboriginal and Torres Strait Islander health in an undergraduate medical curriculum.

    Science.gov (United States)

    Smith, Janie D; Wolfe, Christina; Springer, Shannon; Martin, Mary; Togno, John; Bramstedt, Katrina A; Sargeant, Sally; Murphy, Bradley

    2015-01-01

    In 2011 Bond University was looking for innovative ways to meet the professional standards and guidelines in Aboriginal and Torres Strait Islander health in its Bachelor of Medicine, Bachelor of Surgery (MBBS) curriculum. In 2012 Bond piloted a compulsory cultural immersion program for all first year students, which is now a usual part of the MBBS program. Three phases were included - establishing an Indigenous health group, determining the Aboriginal and Torres Strait Islander educational content based on the professional standards and developing nine educational sessions and resources - as well as significant administrative processes. The cultural immersion was piloted in 2012 with 92 first year medical students. Following refinements it was repeated in 2013 with 95 students and in 2014 with 94 students. A comprehensive evaluation process was undertaken that included a paper-based evaluation form using a five-point Likert scale, as well as a confidential talking circle evaluation. The response rate was 95.4% (n=271, pooled cohort). Data were entered separately into SPSS and annual reports were written to the Faculty. Descriptive statistics are reported alongside themed qualitative data. The three combined student evaluation results were extremely positive. Students (n=271) strongly agreed that the workshop was well organised (M=4.3), that the facilitators contributed very positively to their experience (M=4.3), and that they were very satisfied overall with the activity (M=4.2). They agreed that the eight overall objectives had been well met (M=3.9-4.3). The nine sessions were highly evaluated with mean ratings of between 3.9 and 4.8. The 'best thing' about the immersion identified by more than half of the students was overwhelmingly (n=140) the Storytelling session, followed by bonding with the cohort, the Torres Strait Islander session and learning more about culture. The item identified as needing most improvement was the food (n=87), followed by the

  14. Subjects and ideas of a lost work: the Spongia (1617 by Pedro de Torres Rámila

    Directory of Open Access Journals (Sweden)

    Xavier Tubau

    2010-12-01

    Full Text Available The literary controversy between Lope de Vega and Pedro de Torres Rámila has not been addressed since the publication of Joaquin de Entrambasaguas’s pioneering study on the subject. The original Spongia (1617 went missing, and we only have the excerpts of the book reproduced by the authors of Expostulatio Spongiae (1618. The aim of this article is to rebuild Torres Ramila’s basic ideas on literary theory from the contents of such excerpts.

  15. Making every Australian count: challenges for the National Disability Insurance Scheme (NDIS) and the equal inclusion of homeless Aboriginal and Torres Strait Islander Peoples with neurocognitive disability.

    Science.gov (United States)

    Townsend, Clare; White, Paul; Cullen, Jennifer; Wright, Courtney J; Zeeman, Heidi

    2017-03-30

    This article highlights the dearth of accurate evidence available to inform the National Disability Insurance Scheme (NDIS) regarding the extent and nature of neurocognitive disability amongst homeless Aboriginal and Torres Strait Islander people. Without accurate prevalence rates of neurocognitive disability, homeless Aboriginal and Torres Strait Islander people are in danger of not being counted by the NDIS and not receiving supports to which they are entitled. Addressing this knowledge gap is challenged by a range of factors, including: (1) the long-term effect of profound intergenerational disenfranchisement of Aboriginal and Torres Strait Islander people; (2) Aboriginal and Torres Strait Islander cultural perspectives around disability; (3) the generally unrecognised and poorly understood nature of neurocognitive disability; (4) the use of research methods that are not culturally safe; (5) research logistics; and (6) the absence of culturally appropriate assessment tools to identify prevalence. It is argued that an accurate evidence base that is informed by culturally safe research methods and assessment tools is needed to accurately guide the Commonwealth government and the National Disability Insurance Agency about the expected level of need for the NDIS. Research within this framework will contribute to the realisation of a truly inclusive NDIS.

  16. Understanding burn injuries in Aboriginal and Torres Strait Islander children: protocol for a prospective cohort study.

    Science.gov (United States)

    Ivers, Rebecca Q; Hunter, Kate; Clapham, Kathleen; Coombes, Julieann; Fraser, Sarah; Lo, Serigne; Gabbe, Belinda; Hendrie, Delia; Read, David; Kimble, Roy; Sparnon, Anthony; Stockton, Kellie; Simpson, Renee; Quinn, Linda; Towers, Kurt; Potokar, Tom; Mackean, Tamara; Grant, Julian; Lyons, Ronan A; Jones, Lindsey; Eades, Sandra; Daniels, John; Holland, Andrew J A

    2015-10-13

    Although Aboriginal and Torres Strait Islander children in Australia have higher risk of burns compared with non-Aboriginal children, their access to burn care, particularly postdischarge care, is poorly understood, including the impact of care on functional outcomes. The objective of this study is to describe the burden of burns, access to care and functional outcomes in Aboriginal and Torres Strait Islander children in Australia, and develop appropriate models of care. All Aboriginal and Torres Strait Islander children aged under 16 years of age (and their families) presenting with a burn to a tertiary paediatric burn unit in 4 Australian States (New South Wales (NSW), Queensland, Northern Territory (NT), South Australia (SA)) will be invited to participate. Participants and carers will complete a baseline questionnaire; follow-ups will be completed at 3, 6, 12 and 24 months. Data collected will include sociodemographic information; out of pocket costs; functional outcome; and measures of pain, itch and scarring. Health-related quality of life will be measured using the PedsQL, and impact of injury using the family impact scale. Clinical data and treatment will also be recorded. Around 225 participants will be recruited allowing complete data on around 130 children. Qualitative data collected by in-depth interviews with families, healthcare providers and policymakers will explore the impact of burn injury and outcomes on family life, needs of patients and barriers to healthcare; interviews with families will be conducted by experienced Aboriginal research staff using Indigenous methodologies. Health systems mapping will describe the provision of care. The study has been approved by ethics committees in NSW, SA, NT and Queensland. Study results will be distributed to community members by study newsletters, meetings and via the website; to policymakers and clinicians via policy fora, presentations and publication in peer-reviewed journals. Published by the BMJ

  17. A propósito de torres y de libros: la circularidad de las lecturas (de Borges a Rapunzel

    Directory of Open Access Journals (Sweden)

    Eloy Martos

    2013-01-01

    Full Text Available La torre, la casa, el cuerpo, el mundo... son metáforas en suma del universo cuya correlación (en especial, cuerpo-casa-mundo ha puesto de evidencia M. Eliade. El libro, los libros que están en la torre del texto de Borges son en realidad las historias que pueblan nuestra imaginación, de ahí esa vinculación simbólica, que percibimos en los textos citados de Borges, en el poema de A. Machado, en el cuento de Rapunzel o en las leyendas de torres encantadas, igual que en las actuales narrativas transmediáticas tomadas como medios permeables con los clásicos y la cultura escrita en general.

  18. La Torre de Hanói y los Qn Grafos

    Directory of Open Access Journals (Sweden)

    Mª Milagros Latasa Asso

    2011-10-01

    Full Text Available La Torre de Hanói es uno de los hallazgos matemáticos más ingeniosos de la matemática recreativa. Gracias a una leyenda con tinte oriental hoy se conoce de modo universal. Se describen en este artículo las relaciones entre las soluciones del rompecabezas y los ciclos hamiltonianos en los grafos Qn.

  19. Re-development of mental health first aid guidelines for supporting Aboriginal and Torres Strait Islanders who are engaging in non-suicidal self-injury.

    Science.gov (United States)

    Armstrong, Gregory; Ironfield, Natalie; Kelly, Claire M; Dart, Katrina; Arabena, Kerry; Bond, Kathy; Jorm, Anthony F

    2017-08-22

    Non-suicidal self-injury (NSSI) disproportionally affects Indigenous Australians. Friends, family and frontline workers (for example, teachers, youth workers) are often best positioned to provide initial assistance if someone is engaging in NSSI. Culturally appropriate expert consensus guidelines on how to provide mental health first aid to Australian Aboriginal and Torres Strait Islanders who are engaging in NSSI were developed in 2009. This study describes the re-development of these guidelines to ensure they contain the most current recommended helping actions. The Delphi consensus method was used to elicit consensus on potential helping statements to be included in the guidelines. These statements describe helping actions that Indigenous community members and non-Indigenous frontline workers can take, and information they should have, to help someone who is engaging in NSSI. The statements were sourced from systematic searches of peer-reviewed literature, grey literature, books, websites and online materials, and existing NSSI courses. A panel was formed, comprising 26 Aboriginal and Torres Strait Islanders with expertise in NSSI. The panellists were presented with the helping statements via online questionnaires and were encouraged to suggest re-wording of statements and any additional helping statements that were not included in the original questionnaire. Statements were only accepted for inclusion in the guidelines if they were endorsed by ≥90% of panellists as essential or important. From a total of 185 statements shown to the expert panel, 115 were endorsed as helping statements to be included in the re-developed guidelines. A panel of Aboriginal and Torres Strait Islander people with expertise in NSSI were able to reach consensus on appropriate strategies for providing mental health first aid to an Aboriginal and Torres Strait Islander engaging in NSSI. The re-development of the guidelines has resulted in more comprehensive guidance than the earlier

  20. Indicators for continuous quality improvement for otitis media in primary health care for Aboriginal and Torres Strait Islander children.

    Science.gov (United States)

    Sibthorpe, Beverly; Agostino, Jason; Coates, Harvey; Weeks, Sharon; Lehmann, Deborah; Wood, Marianne; Lannigan, Francis; McAullay, Daniel

    2017-04-01

    Otitis media is a common, generally self-limiting childhood illness that can progress to severe disease and have lifelong sequelae, including hearing loss and developmental delays. Severe disease is disproportionately prevalent among Aboriginal and Torres Strait Islander children. Primary health care is at the frontline of appropriate prevention and treatment. Continuous quality improvement in the prevention and management of important causes of morbidity in client populations is accepted best practice in primary health care and now a requirement of Australian Government funding to services providing care for Aboriginal and Torres Strait Islander children. To date, there have been no indicators for continuous quality improvement in the prevention and management of otitis media and its sequelae in primary health care. Through an expert group consensus process, seven evidence-based indicators, potentially extractable from electronic health records, have been developed. The development process and indicators are described.

  1. Símbolos Universitarios. La Torre Del Reloj

    Directory of Open Access Journals (Sweden)

    Brithney Morales Jaimes

    2016-12-01

    Full Text Available Se presenta una reflexión acerca del significado del uso de las artes y la arquitectura en la academia, a través de la representación de las obras incorporadas en su patrimonio con el propósito de resaltar todos aquellos valores artísticos, arquitectónicos e históricos dentro de la Universidad Central de Venezuela. La Torre del Reloj punto de referencia y reunión obligatoria, representa el ícono más conocido de la Universidad Central de Venezuela, utilizada por toda los graduandos universitarios como recuerdo final de su paso por la universidad

  2. Improving the Bevatron vacuum to 10-10 torr

    International Nuclear Information System (INIS)

    Avery, R.; Elioff, T.; Grunder, H.

    1981-03-01

    Pressure of approx. 10 -10 torr is needed in the Bevatron to accelerate partially-stripped very-heavy ions (e.g. U 69+ ) in the Bevatron without significant loss due to interactions with the residual gas. This ultra-high vacuum will be achieved by installing (summer and fall 1981) a cryogenic liner, mostly 12 0 K, surrounding the Bevatron circulating beam. The novel construction features are presented along with results from successful tests of prototype sections. This is believed to be the largest application of cryogenic pumping to particle accelerators yet undertaken

  3. Food and nutrition programs for Aboriginal and Torres Strait Islander Australians: an overview of systematic reviews.

    Science.gov (United States)

    Browne, Jennifer; Adams, Karen; Atkinson, Petah; Gleeson, Deborah; Hayes, Rick

    2017-09-19

    Objective To provide an overview of previous reviews of programs that aimed to improve nutritional status or diet-related health outcomes for Aboriginal and Torres Strait Islander peoples, in order to determine what programs are effective and why. Methods A systematic search of databases and relevant websites was undertaken to identify reviews of nutrition interventions for Aboriginal and Torres Strait Islander Australians. Pairs of reviewers undertook study selection and data extraction and performed quality assessment using a validated tool. Results Twelve papers reporting 11 reviews were identified. Two reviews were rated high quality, three were rated medium and six were rated low quality. The reviews demonstrated that a positive effect on nutrition and chronic disease indicators can be a result of: 1) incorporating nutrition and breastfeeding advice into maternal and child health care services; and 2) multifaceted community nutrition programs. The evidence suggests that the most important factor determining the success of Aboriginal and Torres Strait Islander food and nutrition programs is community involvement in (and, ideally, control of) program development and implementation. Conclusions Community-directed food and nutrition programs, especially those with multiple components that address the underlying causes of nutrition issues, can be effective in improving nutrition-related outcomes. What is known about the topic? More effective action is urgently required in order to reduce the unacceptable health inequalities between Aboriginal and Torres Strait Islander peoples and non-Indigenous Australians. Food insecurity and nutrition-related chronic conditions are responsible for a large proportion of the ill health experienced by Australia's First Peoples. What does this paper add? This narrative overview of 11 reviews published between 2005 and 2015 provides a synthesis of the current evidence for improving Aboriginal and Torres Strait Islander nutrition

  4. Fatherhood in Australian Aboriginal and Torres Strait Islander communities: An Examination of Barriers and Opportunities to Strengthen the Male Parenting Role.

    Science.gov (United States)

    Reilly, Lyndon; Rees, Susan

    2018-03-01

    Traditional Australian Aboriginal and Torres Strait Islander societies value men's role as parents; however, the importance of promoting fatherhood as a key social determinant of men's well-being has not been fully appreciated in Western medicine. To strengthen the Aboriginal and Torres Strait Islander male parenting role, it is vital to examine current barriers and opportunities. The first author (a male Aboriginal health project officer) conducted yarning sessions in three remote Australian communities, two being Aboriginal, the other having a high Aboriginal population. An expert sample of 25 Aboriginal and 6 non-Aboriginal stakeholders, including maternal and child health workers and men's group facilitators, considered barriers and opportunities to improve men's parenting knowledge and role, with an aim to inform services and practices intended to support men's parenting. A specific aim was to shape an existing men's group program known as Strong Fathers, Strong Families. A thematic analysis of data from the project identified barriers and opportunities to support men's role as parents. Challenges included the transition from traditional to contemporary parenting practices and low level of cultural and male gender sensitivity in maternal and child health services. Services need to better understand and focus on men's psychological empowerment and to address shame and lack of confidence around parenting. Poor literacy and numeracy are viewed as contributing to disempowerment. Communities need to champion Aboriginal and Torres Strait Islander male father role models. Biases and barriers should be addressed to improve service delivery and better enable men to become empowered and confident fathers.

  5. Torre de Valencia - Madrid – España

    Directory of Open Access Journals (Sweden)

    Carvajal, J.

    1974-02-01

    Full Text Available This unique building, which occupies a privileged position opposite the Retiro Park, the most important green area inside the town, has been organized like a tower, attending mainly to the special reasons of its location, in order to obtain excellent views for the dwellings which occupy it, and the least possible shade of the surrounding areas. It is made up of a basement element, with three commercial and office floors over ground level and four one commercial and three for garages, lumber rooms and facilities - underneath same. The 25 storeys of the tower are designed for dwelling with varying surfaces. Vertical metal structure and reinforced concrete screns, in staircase boxes, and flat pugging, without girders.Este edificio singular, que ocupa una situación privilegiada frente al Retiro, la más importante zona verde interior de la ciudad, se ha organizado en forma de torre, atendiendo, principalmente, a sus especiales razones de emplazamiento, a fin de lograr unas inmejorables vistas a las viviendas que lo ocupan, y un menor sombreamiento a las zonas circundantes. Consta de un elemento basamental, con tres plantas comerciales y de oficinas sobre el nivel del suelo y cuatro —una comercial y tres de garajes, trasteros e instalaciones— por debajo del mismo. Las 25 plantas de la torre están destinadas a viviendas de superficies diversas. Estructura vertical metálica y de pantallas de hormigón armado, en cajas de escalera, y forjados planos, sin vigas.

  6. The Virtual Reconstruction of Torre Guaceto Landscape (Brindisi, Italy

    Directory of Open Access Journals (Sweden)

    Italo Spada

    2017-07-01

    Full Text Available This paper describes the design and development of mobile applications that use Augmented Reality technology (AR and virtual reality (VR to improve the dissemination of the archaeological evidence found at the State Nature Reserve and Protected Marine Area of Torre Guaceto (Brindisi; the finds are part of the Bronze Age fortified settlement of Scogli di Apani. In more general terms, they also help in understanding the natural and anthropic character of its coastal territory during the second millennium B.C.

  7. The Coffin-Siris syndrome: five new cases including two siblings.

    Science.gov (United States)

    Carey, J C; Hall, B D

    1978-07-01

    Five new cases and one previously reported case of the Coffin-Siris syndrome are described. These cases plus the remaining four already published bring to ten the number of cases available for scrutiny. Constant features (100% frequency) include variable degrees of mental retardation, nail hypoplasia or absence with predominantly fifth digit involvement, hypotonia, infancy feeding problems, and retarded bone age. Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair hypotrichosis. Significant but less frequent findings include short philtrum (50%, scoliosis (40%), decreased fetal activity (40%), smallness for gestational age (30%), and congenital heart defects (30%). We found the craniofacial phenotype to be mild in the young infant, but progressively more characteristic with age. Autosomal recessive inheritance is suspected on the basis of our brother-and-sister pair.

  8. The Torres del Paine intrusion as a model for a shallow magma chamber

    Science.gov (United States)

    Baumgartner, Lukas; Bodner, Robert; Leuthold, Julien; Muntener, Othmar; Putlitz, Benita; Vennemann, Torsten

    2014-05-01

    The shallow magmatic Torres del Paine Intrusive Complex (TPIC) belongs to a series of sub-volcanic and plutonic igneous bodies in Southern Chile and Argentina. This trench-parallel belt is located in a transitional position between the Patagonia Batholith in the West, and the alkaline Cenozoic plateau lavas in the East. While volumetrically small amounts of magmatism started around 28 my ago in the Torres del Paine area, and a second period occurred between 17-16 Ma, it peaked with the TPIC 12.59-12.43 Ma ago. The spectacular cliffs of the Torres del Paine National park provide a unique opportunity to study the evolution of a very shallow magma chamber and the interaction with its host rocks. Intrusion depth can be estimated based on contact metamorphic assemblages and granite solidus thermobarometry to 750±250 bars, corresponding to an intrusion depth of ca. 3km, ca. 500m above the base of the intrusion. Hornblende thermobarometry in mafic rocks agrees well with these estimates (Leuthold et al., 2014). The TPIC is composed of a granitic laccolith emplaced over 90ka (Michel et al., 2008) in 3 major, several 100m thick sheets, forming an overall thickness of nearly 2 km. Contacts are sharp between sheets, with the oldest sheet on the top and the youngest on the bottom (Michel et al., 2008). The granitic laccolith is under-plated by a ca. 400m thick mafic laccolith, built up over ca. 50ka (Leuthold et al. 2012), constructed from the bottom up. Granitic and mafic sheets are themselves composed of multiple metric to decametric pulses, mostly with ductile contacts between them, resulting in outcrop patterns resembling braided stream sediments. The contact of the TPIC with the Cretaceous flysch sediments document intrusion mechanism. Pre-existing sub-horizontal fold axes are rotated in the roof of the TPIC, clearly demonstrating ballooning of the roof; no ballooning was observed in the footwall of the intrusion. Extension during ballooning of the roof is indicated by

  9. Commissione parlamentare di inchiesta sul fenomeno della mafia in Sicilia 1976: la relazione di minoranza di Pio La Torre e Cesare Terranova

    Directory of Open Access Journals (Sweden)

    a cura di Sarah Mazzenzana

    2017-04-01

    Full Text Available In occasione del novantesimo anniversario dalla nascita di Pio La Torre, e in sintonia con numerose celebrazioni istituzionali, la Rivista propone, all’interno di questa sezione, un documento il cui valore storico, politico e giudiziario è stato riconosciuto solo a distanza di anni. Si tratta della Relazione di minoranza datata 4 febbraio 1976, redatta dall’onorevole Pio La Torre, insieme al giudice Cesare Terranova e sottoscritta dai deputati Benedetti, Malagugini, e dai senatori Adamoli, Chiaromonte, Lugnano e Maffioletti alla fine della VI Legislatura. La Relazione, qui integralmente ripubblicata - fatta esclusione per gli allegati -, si pone in netto contrasto con l’impianto della Relazione di maggioranza della Commissione parlamentare di inchiesta sul fenomeno della mafia in Sicilia, presieduta dal senatore Luigi Carraro. La valutazione fortemente critica proposta dai firmatari muove dall’accusa di aver omesso nella Relazione generale, il tema centrale per la comprensione del fenomeno mafioso ovvero il rapporto di compenetrazione tra il sistema di potere mafioso e l’apparato statuale-politico. La Relazione, come può intuire il lettore, contiene già le premesse della proposta di legge di Pio La Torre sul reato di associazione mafiosa, che sarà approvata il 13 settembre 1982 e diventerà come Legge “Rognoni- La Torre” una pietra miliare della normativa antimafia italiana.    For the ninetieth anniversary of the birth of Pio La Torre, the Review proposes in this section the minority report dated 4 February 1976. The report was drawn up by the deputy La Torre, together with the judge Terranova and it was endorsed by deputies Benedetti, Malagugini and by senators Adamoli, Chiaromonte, Lugnano e Maffioletti by the end of the legislature. The Review publishes the report fully, excluding the annexes. The document highlights limits, inconsistencies and reticence present within the majority report of the parliamentary Antimafia

  10. Personal attitudes towards smoking in a national sample of Aboriginal and Torres Strait Islander smokers and recent quitters.

    Science.gov (United States)

    Nicholson, Anna K; Borland, Ron; Bennet, Pele T; van der Sterren, Anke E; Stevens, Matthew; Thomas, David P

    2015-06-01

    To describe attitudes towards smoking in a national sample of Aboriginal and Torres Strait Islander smokers and recent quitters and assess how they are associated with quitting, and to compare these attitudes with those of smokers in the general Australian population. The Talking About The Smokes project used a quota sampling design to recruit participants from communities served by 34 Aboriginal community-controlled health services and one community in the Torres Strait. We surveyed 1392 daily smokers, 251 non-daily smokers and 78 recent quitters from April 2012 to October 2013. Personal attitudes towards smoking and quitting, wanting to quit, and attempting to quit in the past year. Aboriginal and Torres Strait Islander daily smokers were less likely than daily smokers in the general Australian population to report enjoying smoking (65% v 81%) and more likely to disagree that smoking is an important part of their life (49% v 38%); other attitudes were similar between the two groups. In the Aboriginal and Torres Strait Islander sample, non-daily smokers generally held less positive attitudes towards smoking compared with daily smokers, and ex-smokers who had quit within the past year reported positive views about quitting. Among the daily smokers, 78% reported regretting starting to smoke and 81% reported spending too much money on cigarettes, both of which were positively associated with wanting and attempting to quit; 32% perceived smoking to be an important part of their life, which was negatively associated with both quit outcomes; and 83% agreed that smoking calms them down when stressed, which was not associated with the quitting outcomes. Aboriginal and Torres Strait Islander smokers were less likely than those in the general population to report positive reasons to smoke and held similar views about the negative aspects, suggesting that factors other than personal attitudes may be responsible for the high continuing smoking rate in this population.

  11. Social determinants and lifestyle risk factors only partially explain the higher prevalence of food insecurity among Aboriginal and Torres Strait Islanders in the Australian state of Victoria: a cross-sectional study

    Science.gov (United States)

    2014-01-01

    Background The prevalence of food insecurity is substantially higher among Australians of Aboriginal or Torres Strait Islander descent. The purpose of this study is to explain the relationship between food insecurity and Aboriginal and Torres Islander status in the state of Victoria. Methods Data were obtained from the 2008 Victorian Population Health Survey; a cross-sectional landline computer-assisted telephone interview survey of 34,168 randomly selected Victorians aged 18 years and older; including 339 Aboriginal and Torres Strait Islanders. We categorised a respondent as food insecure, if in the previous 12 months, they reported having run out of food and not being able to afford to buy more. We used multivariable logistic regression to adjust for age, sex, socioeconomic status (household income), lifestyle risk factors (smoking, alcohol consumption and obesity), social support (ability to get help from family, friends or neighbours), household composition (lone parent status, household with a child, and household size), and geographic location (rurality). Results Aboriginal and Torres Strait Islanders (20.3%) were more likely than their non-Aboriginal and Torres Strait Islander counterparts (5.4%) to have experienced food insecurity; odds ratio (OR) = 4.5 (95% CI; 2.7-7.4). Controlling for age, SES, smoking, obesity and inability to get help from family or friends reduced the odds ratio by 38%; ORadjusted = 2.8 (1.6-5.0). Conclusions Social determinants and lifestyle risk factors only partially explained the higher prevalence of food insecurity among Aboriginal and Torres Strait Islanders in Victoria. Further research is needed to explain the disparity in food insecurity between the two populations in order to inform and guide corrective action. PMID:24924598

  12. Appropriate health promotion for Australian Aboriginal and Torres Strait Islander communities: crucial for closing the gap.

    Science.gov (United States)

    Demaio, Alessandro; Drysdale, Marlene; de Courten, Maximilian

    2012-06-01

    Health promotion for Australian Aboriginal and Torres Strait Islander communities and their people has generally had limited efficacy and poor sustainability. It has largely failed to recognise and appreciate the importance of local cultures and continues to have minimal emphasis on capacity building, community empowerment and local ownership. Culturally Appropriate Health Promotion is a framework of principles developed in 2008 with the World Health Organization and the Global Alliance for Health Promotion. It serves as a guide for community-focused health promotion practice to be built on and shaped by the respect for understanding and utilisation of local knowledge and culture. Culturally Appropriate Health Promotion is not about targeting, intervening or responding. Rather, it encourages health programme planners and policymakers to have a greater understanding, respect, a sense of empowerment and collaboration with communities, and their sociocultural environment to improve health. This commentary aims to examine and apply the eight principles of Culturally Appropriate Health Promotion to the Australian Aboriginal and Torres Strait Islander context. It proposes a widespread adoption of the framework for a more respectful, collaborative, locally suitable and therefore appropriate approach to Australian Aboriginal and Torres Strait Islander health promotion.

  13. Torres e icebergs

    Directory of Open Access Journals (Sweden)

    Martínez de Velasco, Emilio F.

    1982-06-01

    Full Text Available In this article a personal is offered of the designer of the TVE tower in Madrid, reviewing all the aspects which have influenced the final aesthetic result, and the role of the architect within the team of tecnicians of different specialities, which in the words of the writer is like the point of an iceberg of great dimensions, but it is not for this that his invention is less important, since the design is in this case a determined problem, by the conditioning of the outline and above all technological, it is necessary to surmount this barrier so that the elements making up the complex, shaft, platform, decks arid mast form a satisfactory plastic unit.Se ofrece en este artículo una visión personal del proyectista de la torre de TVE, en Madrid, pasando revista a todos los aspectos que han incidido en el resultado estético final, y el papel del arquitecto dentro del equipo pluridisciplinar de técnicos de diferentes especialidades, que aparece en palabras del autor como la punta de un iceberg de grandes dimensiones, pero no por esto su intervención es menos importante, ya que si bien el diseño es en este caso un problema sobredeterminado; por los condicionantes del entorno y sobre todo tecnológicos, es preciso superar esta barrera para conseguir que los elementos que componen el conjunto, fuste, plataformas, cubiertas y mástil formen una unidad plástica satisfactoria.

  14. Torre de control. aeropuerto de Fort Worth - Dallas - Texas – (EE. UU.

    Directory of Open Access Journals (Sweden)

    Becket, Welton

    1975-11-01

    Full Text Available The control tower consists of a low building and the actual tower. The 2,400 m2 surface space of the concrete base building is occupied by administrative offices, training facilities, shops and reception area. The structural system of the 60 m high tower is made up of 4 service cores, completed by a cabin and a control equipment level. The service cores are hollow modular units, equally of concrete, which house the elevator, stairs, power and communication cables. The cabin that crowns the tower is an 11-sided polygon. Immediately below it is the equipment level, formed by four quadrants the configuration of which guarantees 360 degree visibility. The control tower is the focal point and nerve centre of the activities at the airport.Está formada por un cuerpo bajo y la torre propiamente dicha. La base, realizada de hormigón, distribuye, en sus 2.400 m2 de superficie: oficinas administrativas, locales de enseñanza, tiendas y una zona de recepción. La torre, de 60 m de altura, se diseñó como un sistema estructural constituido por cuatro núcleos de servicio, rematada por una cabina y una planta para los equipos de control. Los núcleos son unidades modulares huecas, también de hormigón, que albergan en su interior un ascensor, las escaleras, las instalaciones de electricidad y comunicaciones. La cabina que corona el edificio es un polígono regular de once lados. Inmediatamente debajo de ella se encuentra el nivel de equipos, formado por cuatro cuadrantes cuya configuración asegura una visibilidad de 360°. La torre es el punto focal y centro neurálgico de todas las actividades del aeropuerto.

  15. Using Indigenist and Indigenous methodologies to connect to deeper understandings of Aboriginal and Torres Strait Islander peoples' quality of life.

    Science.gov (United States)

    Kite, Elaine; Davy, Carol

    2015-12-01

    The lack of a common description makes measuring the concept of quality of life (QoL) a challenge. Whether QoL incorporates broader social features or is attributed to health conditions, the diverse range of descriptions applied by various disciplines has resulted in a concept that is multidimensional and vague. The variety of theoretical conceptualisations of QoL confounds and confuses even the most astute. Measuring QoL in Aboriginal and Torres Strait Islander populations is even more challenging. Instruments commonly developed and used to measure QoL are often derived from research methodologies shaped by Western cultural perspectives. Often they are simply translated for use among culturally and linguistically diverse Aboriginal and Torres Strait Islander peoples. This has implications for Aboriginal and Torres Strait Islander populations whose perceptions of health are derived from within their specific cultures, value systems and ways of knowing and being. Interconnections and relationships between themselves, their communities, their environment and the natural and spiritual worlds are complex. The way in which their QoL is currently measured indicates that very little attention is given to the diversity of Aboriginal and Torres Strait Islander peoples' beliefs or the ways in which those beliefs shape or give structure and meaning to their health and their lives. The use of Indigenist or Indigenous methodologies in defining what Aboriginal and Torres Strait Islander peoples believe gives quality to their lives is imperative. These methodologies have the potential to increase the congruency between their perceptions of QoL and instruments to measure it.

  16. Diversity in eMental Health Practice: An Exploratory Qualitative Study of Aboriginal and Torres Strait Islander Service Providers.

    Science.gov (United States)

    Bird, Jennifer; Rotumah, Darlene; Bennett-Levy, James; Singer, Judy

    2017-05-29

    In Australia, mental health services are undergoing major systemic reform with eMental Health (eMH) embedded in proposed service models for all but those with severe mental illness. Aboriginal and Torres Strait Islander service providers have been targeted as a national priority for training and implementation of eMH into service delivery. Implementation studies on technology uptake in health workforces identify complex and interconnected variables that influence how individual practitioners integrate new technologies into their practice. To date there are only two implementation studies that focus on eMH and Aboriginal and Torres Strait Islander service providers. They suggest that the implementation of eMH in the context of Aboriginal and Torres Strait Islander populations may be different from the implementation of eMH with allied health professionals and mainstream health services. The objective of this study is to investigate how Aboriginal and Torres Strait Islander service providers in one regional area of Australia used eMH resources in their practice following an eMH training program and to determine what types of eMH resources they used. Individual semistructured qualitative interviews were conducted with a purposive sample of 16 Aboriginal and Torres Strait Islander service providers. Interviews were co-conducted by one indigenous and one non-indigenous interviewer. A sample of transcripts were coded and thematically analyzed by each interviewer and then peer reviewed. Consensus codes were then applied to all transcripts and themes identified. It was found that 9 of the 16 service providers were implementing eMH resources into their routine practice. The findings demonstrate that participants used eMH resources for supporting social inclusion, informing and educating, assessment, case planning and management, referral, responding to crises, and self and family care. They chose a variety of types of eMH resources to use with their clients, both culturally

  17. Strategic approaches to enhanced health service delivery for Aboriginal and Torres Strait Islander people with chronic illness: a qualitative study

    Directory of Open Access Journals (Sweden)

    Aspin Clive

    2012-06-01

    Full Text Available Abstract Background Aboriginal and Torres Strait Islander people with chronic illness confront multiple challenges that contribute to their poor health outcomes, and to the health disparities that exist in Australian society. This study aimed to identify barriers and facilitators to care and support for Aboriginal and Torres Strait Islander people with chronic illness. Methods Face-to-face in-depth interviews were conducted with Aboriginal and Torres Strait Islander people with diabetes, chronic heart failure or chronic obstructive pulmonary disease (n-16 and family carers (n = 3. Interviews were transcribed verbatim and the transcripts were analysed using content analysis. Recurrent themes were identified and these were used to inform the key findings of the study. Results Participants reported both negative and positive influences that affected their health and well-being. Among the negative influences, they identified poor access to culturally appropriate health services, dislocation from cultural support systems, exposure to racism, poor communication with health care professionals and economic hardship. As a counter to these, participants pointed to cultural and traditional knowledge as well as insights from their own experiences. Participants said that while they often felt overwhelmed and confused by the burden of chronic illness, they drew strength from being part of an Aboriginal community, having regular and ongoing access to primary health care, and being well-connected to a supportive family network. Within this context, elders played an important role in increasing people’s awareness of the impact of chronic illness on people and communities. Conclusions Our study indicated that non-Indigenous health services struggled to meet the needs of Aboriginal and Torres Strait Islander people with chronic illness. To address their complex needs, health services could gain considerably by recognising that Aboriginal and Torres Strait

  18. Propiedades químicas, estructurales y funcionales de la lechuguilla (Agave lechuguilla Torr.)

    DEFF Research Database (Denmark)

    Carmona, Juan E.; Morales-Martínez, Thelma K.; Mussatto, Solange I.

    2017-01-01

    Agave lechuguilla Torr. Is a non-timber forest resource in the arid and semi-arid zones of northeastern Mexico, due to its range of distribution, it is interesting to evaluate the potential of this raw material for biotechnological applications such as the production of second generation biofuels...

  19. Metodologie di rilievo tra ricerca e innovazione tecnologica per un caso di archeologia medievale: Torre Melissa in provincia di Crotone

    Directory of Open Access Journals (Sweden)

    Francesca Fatta

    2017-12-01

    Full Text Available   Il complesso di Torre Melissa è uno dei manufatti storici di pregio che si affacciano sulle coste calabresi del mare Jonio. Una torre-castello d’epoca aragonese sottoposta ad un restauro conservativo agli inizi degli anni duemila. In quella occasione, la torre fu rilevata con procedure manuali e l’ausilio di una stazione totale. Nel 2014 si è proceduto con un rilievo eseguito con strumenti digitali d’alta definizione (laser scanner, fotografia digitale e telecamera applicata a drone. La comparazione tra i due rilievi, effettuati con metodologie differenti, mostrano delle disuguaglianze semantiche evidenti che mettono in risalto i progressi delle odierne strumentazioni per la definizione di modelli 3D d’altissima precisione, fondamentali per le pratiche di tutela e valorizzazione di un patrimonio architettonico complesso e stratificato

  20. Social media e pratiche emergenti di partecipazione: il caso Porto Torres: quando la comunità locale va on-line

    OpenAIRE

    Bonesu, Rodolfo

    2011-01-01

    This study looks at a territory-based virtual community grown up on the most recent platform for online community building: the social network site (SNS). With the Sardinian industrial town of Porto Torres being the local community, and Facebook the virtual platform of interaction, this study specifically approaches the question of how and to what extent territory-based online interaction can impact local political participation and social capital. Porto Torres is a small town in the Italian ...

  1. Aboriginal and Torres Strait Islander Worldviews and Cultural Safety Transforming Sexual Assault Service Provision for Children and Young People

    Directory of Open Access Journals (Sweden)

    Leticia Funston

    2013-08-01

    Full Text Available Child Sexual Assault (CSA in Aboriginal and Torres Strait Islander communities is a complex issue that cannot be understood in isolation from the ongoing impacts of colonial invasion, genocide, assimilation, institutionalised racism and severe socio-economic deprivation. Service responses to CSA are often experienced as racist, culturally, financially and/or geographically inaccessible. A two-day forum, National Yarn Up: Sharing the Wisdoms and Challenges of Young People and Sexual Abuse, was convened by sexual assault services to identify the main practice and policy concerns regarding working with Aboriginal and Torres Strait Islander children and young people (C&YP, families and communities in the context of CSA. The forum also aimed to explore how services can become more accountable and better engaged with the communities they are designed to support. The forum was attended by eighty invited Aboriginal and Torres Strait Islander and non-Aboriginal youth sexual assault managers and workers representing both “victim” and “those who sexually harm others” services. In keeping with Aboriginal Community-Based Research methods forum participants largely directed discussions and contributed to the analysis of key themes and recommendations reported in this article. The need for sexual assault services to prioritise cultural safety by meaningfully integrating Aboriginal and Torres Strait Islander Worldviews emerged as a key recommendation. It was also identified that collaboration between “victims” and “those who sexually harm” services are essential given Aboriginal and Torres Strait Islander C&YP who sexually harm others may have also been victims of sexual assault or physical violence and intergenerational trauma. By working with the whole family and community, a collaborative approach is more likely than the current service model to develop cultural safety and thus increase the accessibility of sexual assault services.

  2. The Re-Creation and Resolution of the 'Problem' of Indigenous Education in the Aboriginal and Torres Strait Islander Cross-Curriculum Priority

    Science.gov (United States)

    Maxwell, Jacinta; Lowe, Kevin; Salter, Peta

    2018-01-01

    This paper focuses on the 'problem' of Aboriginal and Torres Strait Islander education represented in the Australian Curriculum's Aboriginal and Torres Strait Islander histories and cultures cross-curriculum priority. Looking beyond particular curriculum content, we uncover the policy discourses that construct (and reconstruct) the…

  3. Representation of Power of the Prince-Bishop Raimondo della Torre Patriarch of Aquileia (1273- 1299

    Directory of Open Access Journals (Sweden)

    Luca Demontis

    2013-12-01

    Full Text Available La rappresentazione del potere del principe-vescovo Raimondo della Torre, Patriarca di Aquileia (1273-1299 Raimondo della Torre, fratello del signore di Milano Napoleone della Torre, venne nominato patriarca di Aquileia nel 1273 da papa Gregorio X. Subito attuò un’attenta costruzione della propria immagine, organizzando il viaggio verso la sede patriarcale secondo una precisa simbologia biblica ispirata alle figure di Salomone e Davide; arrivò nei territori del patriarcato e assunse ufficialmente il potere con due cerimonie d’entrata nella capitale religiosa, Aquileia, e in quella politica, Cividale. Per rafforzare il suo potere e ottenere la collaborazione dei sudditi unì concrete azioni di buon governo a un’ampia comunicazione politica che comprendeva cerimonie d’investitura feudale rivolte a nobili, ministeriali e prelati del patriarcato, e ai principi confinanti; cerimonie di liberazione dei servi di masnada; una rinascita economica e architettonica delle città del patriarcato, depresse dalla potente feudalità friulana, con la costruzione di torri, palazzi, castelli, vie, piazze, fontane e la concessione di privilegi; la fondazione di una nuova città chiamata Milano di Raimondo; il ricorso all’iconografia del potere, alle monete, alle opere tessili, alla poesia e al teatro. La comunicazione politica gli permise di sviluppare un rapporto positivo con i suoi interlocutori raggiungendo i suoi obiettivi e creando una solida immagine di sé come principe-patriarca di Aquileia.

  4. What constitutes 'support' for the role of the Aboriginal and Torres Strait Islander child health workforce?

    Science.gov (United States)

    Watson, Karen; Young, Jeanine; Barnes, Margaret

    2013-02-01

    As well as providing primary health care services, Aboriginal and Torres Strait Islander health workers are known to significantly contribute to the overall acceptability, access and use of health services through their role of cultural brokerage in the communities within which they work. As such they are uniquely positioned to positively influence health improvements for this vulnerable population. This study sought to identify key areas that both Aboriginal and Torres Strait Islander and non-Indigenous health professionals working within Indigenous communities felt were important in providing support for their roles. This group of workers require support within their roles particularly in relation to cultural awareness and capability, resource provision, educational opportunities, collaboration with colleagues and peers, and professional mentorship.

  5. VET Retention in Remote Aboriginal and Torres Strait Islander Communities. Good Practice Guide

    Science.gov (United States)

    National Centre for Vocational Education Research (NCVER), 2017

    2017-01-01

    This good practice guide is based on the research project "Enhancing training advantage for remote Aboriginal and Torres Strait Islander learners" by John Guenther et al. on behalf of Ninti One Limited. The project examines five unique and successful vocational education and training (VET) programs in remote areas and identifies how…

  6. HISTRAP [Heavy Ion Storage Ring for Atomic Physics] vacuum test stand for pressures of 10-12 Torr

    International Nuclear Information System (INIS)

    Johnson, J.W.; Atkins, W.H.; Dowling, D.T.; McConnell, J.W.; Milner, W.T.; Olsen, D.K.

    1988-01-01

    HISTRAP, Heavy Ion Storage Ring for Atomic Physics, is a proposed synchrotron/cooler/storage ring accelerator optimized for advanced atomic physics research. The ring has a circumference of 46.8 m, a bore diameter of about 15 cm, and requires a vacuum of 10 -12 Torr in order to decelerate highly-charged very-heavy ions down to low energies. To be able to test components and procedures to achieve this pressure, a test stand approximately modeling one-sixteenth of the ring vacuum chamber has been built. The 3.5-m-long test stand has been fabricated from 10-cm-diameter components, with 316LN stainless steel flanges. Prior to assembly, these components were vacuum fired at 950/degree/C at a pressure of 10 -4 Torr. The test stand is bakeable in situ at 300/degree/C. Pumping is achieved with two 750-L/s titanium sublimator pumps and one 60-L/s ion pump. Pressure is measured with two extractor ion gauges and a 10 -14 PP RGA. The roughing for the test stand consists of cryosorption pumps followed by a cryopump. A pressure of 4 x 10 -12 Torr has been achieved. 7 refs., 5 figs

  7. Primer registro de Conidiobolus coronatus (Zygomycetes: Entomophthorales en crías experimentales de dos especies plaga del maíz: Delphacodes kuscheli y D. haywardi (Hemiptera: Delphacidae en la Argentina First record of Conidiobolus coronatus (Zygomycetes: Entomophthorales in experimental breeding of two pest species of corn: Delphacodes kuscheli and D. haywardi Muir (Hemiptera: Delphacidae in Argentine

    Directory of Open Access Journals (Sweden)

    A. V. Toledo

    Full Text Available Se investigó la ocurrencia natural del hongo entomopatógeno Conidiobolus coronatus (Costantin Batko (Zygomycetes: Entomophthorales en adultos de Delphacodes kuscheli Fennah y D. haywardi Muir (Hemiptera: Delphacidae, criados sobre Hordeum vulgare L. bajo condiciones de invernadero. Los insectos muertos, por una sospechada infección fúngica, fueron recolectados, esterilizados superficialmente, y examinados en el laboratorio. Conidiobolus coronatus fue aislado en cultivos puros, descrito morfológicamente y depositado en colecciones micológicas. Este trabajo presenta el primer registro de C. coronatus contra insectos perjudiciales en la Argentina.The natural occurrence of the entomopathogenic fungus Conidiobolus coronatus (Costantin Batko (Zygomycetes: Entomophthorales in adults of Delphacodes kuscheli Fennah and D. haywardi Muir (Hemiptera: Delphacidae, reared on Hordeum vulgare L. under greenhouse conditions, was investigated. Dead insects, suspected of fungal infection, were collected, surface sterilized, and examined in the laboratory. Conidiobolus coronatus was isolated in pure cultures, described morphologically, and deposited in mycological collections. This paper presents the first record of C. coronatus against harmful insects in Argentina.

  8. Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

    Directory of Open Access Journals (Sweden)

    Colovati Mileny ES

    2012-01-01

    Full Text Available Abstract Background The majority of Marfan syndrome (MFS cases is caused by mutations in the fibrillin-1 gene (FBN1, mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature. Results We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. Discussion This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.

  9. Providing culturally appropriate mental health first aid to an Aboriginal or Torres Strait Islander adolescent: development of expert consensus guidelines

    Science.gov (United States)

    2014-01-01

    Background It is estimated that the prevalence of mental illness is higher in Aboriginal and Torres Strait Islander adolescents compared to non-Aboriginal adolescents. Despite this, only a small proportion of Aboriginal youth have contact with mental health services, possibly due to factors such as remoteness, language barriers, affordability and cultural sensitivity issues. This research aimed to develop culturally appropriate guidelines for anyone who is providing first aid to an Australian Aboriginal or Torres Strait Islander adolescent who is experiencing a mental health crisis or developing a mental illness. Methods A panel of Australian Aboriginal people who are experts in Aboriginal youth mental health, participated in a Delphi study investigating how members of the public can be culturally appropriate when helping an Aboriginal or Torres Strait Islander adolescent with mental health problems. The panel varied in size across the three sequential rounds, from 37–41 participants. Panellists were presented with statements about cultural considerations and communication strategies via online questionnaires and were encouraged to suggest additional content. All statements endorsed as either Essential or Important by ≥ 90% of panel members were written into a guideline document. To assess the panel members’ satisfaction with the research method, participants were invited to provide their feedback after the final survey. Results From a total of 304 statements shown to the panel of experts, 194 statements were endorsed. The methodology was found to be useful and appropriate by the panellists. Conclusion Aboriginal and Torres Strait Islander Youth mental health experts were able to reach consensus about what the appropriate communication strategies for providing mental health first aid to an Aboriginal and Torres Strait Islander adolescent. These outcomes will help ensure that the community provides the best possible support to Aboriginal adolescents who

  10. Hypertension: high prevalence and a positive association with obesity among Aboriginal and Torres Strait Islander youth in far north Queensland.

    Science.gov (United States)

    Esler, Danielle; Raulli, Alexandra; Pratt, Rohan; Fagan, Patricia

    2016-04-01

    Hypertension and other chronic disease risks are common among Aboriginal and Torres Strait Islander adults but there is little evidence regarding the epidemiology of these risk factors during adolescence. This study examines the prevalence of pre-hypertension, hypertension and other cardiovascular risk factors in Aboriginal and Torres Strait Islander people aged 15-24 years living in remote Indigenous communities in north Queensland. In so doing, it aims to better inform the approach to cardiovascular disease in this population. This is a descriptive study that retrospectively examines health service data from a program of community screening, the Young Persons Check (YPC). Participants were 1,883 Aboriginal and Torres Strait Islander people aged 15-24 years who attended for a YPC in 11 remote communities in north Queensland between March 2009 and April 2011. Overall, the prevalence of pre-hypertension was 34.0%; stage I hypertension was 17.7% and stage II hypertension was 3.3%. The prevalence of elevated waist circumference was 47.6%, overweight or obesity 45.9%, elevated triglycerides 18.3%, decreased HDL 54.8% and proteinuria 24.3%. The prevalence of hypertension (stage I or II) among Torres Strait Islander males was 34.1%, Aboriginal males 26.9%, Torres Strait Islander females 12.6% and Aboriginal females 13.0%. Hypertension was associated with sex (males) (OR= 4.37, p<0.000), overweight (OR=2.46, p<0.000), obesity (OR=4.59, p<0.000) and elevated triglycerides (OR=2.38, p<0.000). Pre-hypertension, hypertension and other cardiovascular risk in this population is highly prevalent. Hypertension was particularly prevalent among male participants. The results reiterate the importance of early life experience in cardiovascular disease prevention. © 2015 The Authors.

  11. Providing culturally appropriate mental health first aid to an Aboriginal or Torres Strait Islander adolescent: development of expert consensus guidelines.

    Science.gov (United States)

    Chalmers, Kathryn J; Bond, Kathy S; Jorm, Anthony F; Kelly, Claire M; Kitchener, Betty A; Williams-Tchen, Aj

    2014-01-28

    It is estimated that the prevalence of mental illness is higher in Aboriginal and Torres Strait Islander adolescents compared to non-Aboriginal adolescents. Despite this, only a small proportion of Aboriginal youth have contact with mental health services, possibly due to factors such as remoteness, language barriers, affordability and cultural sensitivity issues. This research aimed to develop culturally appropriate guidelines for anyone who is providing first aid to an Australian Aboriginal or Torres Strait Islander adolescent who is experiencing a mental health crisis or developing a mental illness. A panel of Australian Aboriginal people who are experts in Aboriginal youth mental health, participated in a Delphi study investigating how members of the public can be culturally appropriate when helping an Aboriginal or Torres Strait Islander adolescent with mental health problems. The panel varied in size across the three sequential rounds, from 37-41 participants. Panellists were presented with statements about cultural considerations and communication strategies via online questionnaires and were encouraged to suggest additional content. All statements endorsed as either Essential or Important by ≥ 90% of panel members were written into a guideline document. To assess the panel members' satisfaction with the research method, participants were invited to provide their feedback after the final survey. From a total of 304 statements shown to the panel of experts, 194 statements were endorsed. The methodology was found to be useful and appropriate by the panellists. Aboriginal and Torres Strait Islander Youth mental health experts were able to reach consensus about what the appropriate communication strategies for providing mental health first aid to an Aboriginal and Torres Strait Islander adolescent. These outcomes will help ensure that the community provides the best possible support to Aboriginal adolescents who are developing mental illnesses or are in a

  12. Blackbrush (Coleogyne ramosissima Torr.): State of our knowledge and future challenges [Chapter 10

    Science.gov (United States)

    Rosemary L. Pendleton; Burton K. Pendleton; Susan E. Meyer; Bryce Richardson; Todd Esque; Stanley G. Kitchen

    2015-01-01

    Blackbrush (Coleogyne ramosissima Torr.) is a regionally dominant shrub species found in the transition zone between North American warm and cold deserts where it occupies millions of hectares on National Park Service, Bureau of Land Management, and National Forest lands. Blackbrush habitat is under severe threat of loss from the combined effects of exotic annual...

  13. Los cuadros de costumbres de Torres Méndez

    Directory of Open Access Journals (Sweden)

    Jorge Moreno Clavijo

    1965-12-01

    Full Text Available El timbre Sol y luna distingue el excelente libro que el Banco Cafetero ha lanzado, en edición exigente de lujo, forrado en tela, con los cuadros de costumbres que firmara, a mediados del siglo pasado, ese eximio pintor bogotano que se llamó Ramón Torres Méndez. La obra está integrada por cincuenta y cinco dibujos pertenecientes a la colección que reposa en el Museo Nacional. El regalo que la empresa privada, asociándose al fomento de la cultura en clara labor colombianista, hace a los amantes de los buenos libros, no puede ser más oportuno,  ahora, cuando parecen desdibujarse los perfiles de cuanto hasta hoy nos ha definido y caracterizado.

  14. Effects of Community Singing Program on Mental Health Outcomes of Australian Aboriginal and Torres Strait Islander People: A Meditative Approach.

    Science.gov (United States)

    Sun, Jing; Buys, Nicholas

    2016-03-01

    To evaluate the impact of a meditative singing program on the health outcomes of Aboriginal and Torres Strait Islander people. The study used a prospective intervention design. The study took place in six Aboriginal and Torres Strait Islander communities and Community Controlled Health Services in Queensland, Australia. Study participants were 210 Australian Aboriginal and Torres Strait Islander adults aged 18 to 71 years, of which 108 were in a singing intervention group and 102 in a comparison group. A participative community-based community singing program involving weekly singing rehearsals was conducted over an 18-month period. Standardized measures in depression, resilience, sense of connectedness, social support, and singing related quality of life were used. The general linear model was used to compare differences pre- and postintervention on outcome variables, and structural equation modeling was used to examine the pathway of the intervention effect. Results revealed a significant reduction in the proportion of adults in the singing group classified as depressed and a concomitant significant increase in resilience levels, quality of life, sense of connectedness, and social support among this group. There were no significant changes for these variables in the comparison group. The participatory community singing approach linked to preventative health services was associated with improved health, resilience, sense of connectedness, social support, and mental health status among Aboriginal and Torres Strait Islander adults. © The Author(s) 2016.

  15. Vanguardia, postvanguardia, posmodernidad. Max Aub, Jusep Torres Campalans y la vacunación vanguardista

    Directory of Open Access Journals (Sweden)

    Ette, Ottmar

    2002-12-01

    Full Text Available The analysis of one of Max Aub's most brilliant novels, «Jusep Torres Campalans» (1958, allows us a deep insight in the complex relationship between the «historic» Avantgarde and the Neoavantgardes of the sixties and seventies as well as between postvanguardist aesthetics and (the cultural space of Postmodernity. Focussing different forms of the break with the break of tradition, this essay deals with the avantgardist vaccination of postmodern cultural practices.

    Partiendo del análisis de una de las obras estéticamente más logradas de Max Aub, «Jusep Torres Campalans» (1958, el presente estudio enfoca las relaciones complejas entre las vanguardias «históricas» y las neovanguardias de los años sesenta y setenta, entre una estética postvanguardista y (el espacio cultural de la Posmodernidad, vacunada —en el sentido de Roland Barthes— con un poquito de Vanguardia.

  16. Increased bone mineral density in Aboriginal and Torres Strait Islander Australians: impact of body composition differences.

    Science.gov (United States)

    Maple-Brown, L J; Hughes, J; Piers, L S; Ward, L C; Meerkin, J; Eisman, J A; Center, J R; Pocock, N A; Jerums, G; O'Dea, K

    2012-07-01

    Bone mineral density (BMD) has been reported to be both higher and lower in Indigenous women from different populations. Body composition data have been reported for Indigenous Australians, but there are few published BMD data in this population. We assessed BMD in 161 Indigenous Australians, identified as Aboriginal (n=70), Torres Strait Islander (n=68) or both (n=23). BMD measurements were made on Norland-XR46 (n=107) and Hologic (n=90) dual-energy X-ray absorptiometry (DXA) machines. Norland BMD and body composition measurements in these individuals, and also in 36 Caucasian Australians, were converted to equivalent Hologic BMD (BMD(H)) and body composition measurements for comparison. Femoral neck (FN) and lumbar spine Z-scores were high in Indigenous participants (mean FN Z-score: Indigenous men +0.98, pAboriginal and/or Torres Strait Islander than Caucasian participants, after adjusting for age, gender, diabetes and height and remained higher in men after addition of lean mass to the model. We conclude that FN BMD is higher in Aboriginal and/or Torres Strait Islander Australians than Caucasian Australian reference ranges and these differences still remained significant in men after adjustment for lean mass. It remains to be seen whether these BMD differences translate to differences in fracture rates. Copyright © 2012 Elsevier Inc. All rights reserved.

  17. Screening for Vision Problems, Including Usher's Syndrome, among Hearing Impaired Students.

    Science.gov (United States)

    Fillman, Robyn D.; And Others

    1987-01-01

    A screening program for vision problems and Usher's Syndrome (a common cause of deaf-blindness) among 210 hearing-impaired students found 44 percent had significant vision problems and 1 percent had Usher's Syndrome. The program involved an interagency network of school, health care, and support personnel and utilized a dilated ophathalmological…

  18. Modelagem fenomenológica do desempenho de torres de resfriamento de água acopladas e estudo de casos.

    OpenAIRE

    Rafael Candido de Lima Junior

    2011-01-01

    Neste trabalho foi realizada a modelagem fenomenológica do desempenho de uma torre de resfriamento de água e de um sistema de duas torres de resfriamento em série, com temperatura de água de entrada de até 65 ºC. Verificou-se a validade do modelo através de comparação dos resultados previstos com os obtidos em ensaios em uma unidade piloto. Em seguida, através de simulação matemática, a partir do modelo desenvolvido, foi feito o estudo de diversos casos de aplicação. Estudou-se a influência d...

  19. Indigenous Language Learning and Maintenance among Young Australian Aboriginal and Torres Strait Islander Children

    Science.gov (United States)

    Verdon, Sarah; McLeod, Sharynne

    2015-01-01

    Internationally, cultural renewal and language revitalisation are occurring among Indigenous people whose lands were colonised by foreign nations. In Australia, the Aboriginal and Torres Strait Islander people are striving for the re-voicing of their mother tongue and the re-practicing of their mother culture to achieve cultural renewal in the…

  20. The Torres Indigenous Hip Hop Project: evaluating the use of performing arts as a medium for sexual health promotion.

    Science.gov (United States)

    McEwan, Alexandra; Crouch, Alan; Robertson, Heather; Fagan, Patricia

    2013-08-01

    The Torres Indigenous Hip Hop Project (the Project) was conducted in the Torres and Northern Peninsula Area of Queensland during early 2010. This paper provides a critical analysis of project outcomes and identifies criteria that may form a suitable framework for the assessment of proposals for sexual health promotion using performing arts-based approaches in Aboriginal and Torres Strait Islander settings. A case study method was used. The first phase of analysis assessed whether project objectives were met using data collected during project planning and implementation. The second phase used these findings, augmented by interviews with key personnel, to respond to the question 'How could this be done better?'. The Project required significant human and organisational implementation support. The project was successful in facilitating event-specific community mobilisation. It raised awareness of sexual health disadvantage and engaged effectively with the target group. It laid important groundwork to progress school-based and community mechanisms to address regional youth disadvantage. Against these benefits are issues of opportunity cost and the need for ongoing resources to capitalise on the opportunities created. With substantial support and planning, such approaches can play an important role in engaging young people and bridging the gap between clinical interventions and improvements in health deriving from community-driven strategies. SO WHAT? This paper contributes to existing literature by identifying key elements of an effective approach to using performing arts in sexual health promotion in Aboriginal and Torres Strait Islander settings. It also provides guidance when consideration is being given to investment in resource-intensive health promotion initiatives.

  1. Angle-resolved environmental X-ray photoelectron spectroscopy: A new laboratory setup for photoemission studies at pressures up to 0.4 Torr

    International Nuclear Information System (INIS)

    Mangolini, F.; Wabiszewski, G. E.; Egberts, P.; Åhlund, J.; Backlund, K.; Karlsson, P. G.; Adiga, V. P.; Streller, F.; Wannberg, B.; Carpick, R. W.

    2012-01-01

    The paper presents the development and demonstrates the capabilities of a new laboratory-based environmental X-ray photoelectron spectroscopy system incorporating an electrostatic lens and able to acquire spectra up to 0.4 Torr. The incorporation of a two-dimensional detector provides imaging capabilities and allows the acquisition of angle-resolved data in parallel mode over an angular range of 14° without tilting the sample. The sensitivity and energy resolution of the spectrometer have been investigated by analyzing a standard Ag foil both under high vacuum (10 −8 Torr) conditions and at elevated pressures of N 2 (0.4 Torr). The possibility of acquiring angle-resolved data at different pressures has been demonstrated by analyzing a silicon/silicon dioxide (Si/SiO 2 ) sample. The collected angle-resolved spectra could be effectively used for the determination of the thickness of the native silicon oxide layer.

  2. Seagrass-Watch: Engaging Torres Strait Islanders in marine habitat monitoring

    Science.gov (United States)

    Mellors, Jane E.; McKenzie, Len J.; Coles, Robert G.

    2008-09-01

    Involvement in scientifically structured habitat monitoring is a relatively new concept to the peoples of Torres Strait. The approach we used was to focus on awareness, and to build the capacity of groups to participate using Seagrass-Watch as the vehicle to provide education and training in monitoring marine ecosystems. The project successfully delivered quality scientifically rigorous baseline information on the seasonality of seagrasses in the Torres Strait—a first for this region. Eight seagrass species were identified across the monitoring sites. Seagrass cover varied within and between years. Preliminary evidence indicated that drivers for seagrass variability were climate related. Generally, seagrass abundance increased during the north-west monsoon ( Kuki), possibly a consequence of elevated nutrients, lower tidal exposure times, less wind, and higher air temperatures. Low seagrass abundance coincided with the presence of greater winds and longer periods of exposure at low tides during the south-east trade wind season ( Sager). No seasonal patterns were apparent when frequency of disturbance from high sedimentation and human impacts was high. Seagrass-Watch has been incorporated in to the Thursday Island High School's Marine Studies Unit ensuring continuity of monitoring. The students, teachers, and other interested individuals involved in Seagrass-Watch have mastered the necessary scientific procedures to monitor seagrass meadows, and developed skills in coordinating a monitoring program and skills in mentoring younger students. This has increased the participants' self-esteem and confidence, and given them an insight into how they may participate in the future management of their sea country.

  3. Aberrant lymphatic development in euploid fetuses with increased nuchal translucency including Noonan syndrome.

    NARCIS (Netherlands)

    Mooij, Y.M. de; Akker, N.M. van den; Bekker, M.N.; Bartelings, M.M.; Vugt, J.M.G. van; Gittenberger-de Groot, A.C.

    2011-01-01

    OBJECTIVE: Increased nuchal translucency in the human fetus is associated with aneuploidy, structural malformations and several syndromes such as Noonan syndrome. In 60-70% of the Noonan syndrome cases, a gene mutation can be demonstrated. Previous research showed that aneuploid fetuses with

  4. MLPA analysis for a panel of syndromes with mental retardation reveals imbalances in 5.8% of patients with mental retardation and dysmorphic features, including duplications of the Sotos syndrome and Williams-Beuren syndrome regions

    DEFF Research Database (Denmark)

    Kirchhoff, Maria; Bisgaard, Anne-Marie; Bryndorf, Thue

    2007-01-01

    MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal conventional karyotypes (P064 probe set, MRC-Holland, for detection of (micro)deletions associated with 1p36-deletion, Sotos, Williams...... referred with a clinical suspicion of a specific syndrome, which was confirmed in 17 patients (21.3%). The remaining 90 patients were referred because of mental retardation and dysmorphism but without suspicion of a specific syndrome. Seven imbalances, including four duplications, were detected in these 90...

  5. High precision ages from the Torres del Paine Intrusion, Chile

    Science.gov (United States)

    Michel, J.; Baumgartner, L.; Cosca, M.; Ovtcharova, M.; Putlitz, B.; Schaltegger, U.

    2006-12-01

    The upper crustal bimodal Torres del Paine Intrusion, southern Chile, consists of the lower Paine-Mafic- Complex and the upper Paine-Granite. Geochronologically this bimodal complex is not well studied except for a few existing data from Halpern (1973) and Sanchez (2006). The aim of this study is to supplement the existing data and to constrain the age relations between the major magmatic pulses by applying high precision U-Pb dating on accessory zircons and 40Ar/39Ar-laser-step-heating-ages on biotites from the Torres del Paine Intrusion. The magmatic rocks from mafic complex are fine to medium-grained and vary in composition from quartz- monzonites to granodiorites and gabbros. Coarse-grained olivine gabbros have intruded these rocks in the west. The granitic body is represented by a peraluminous, biotite-orthoclase-granite and a more evolved leucocratic granite in the outer parts towards the host-rock. Field observations suggest a feeder-zone for the granite in the west and that the granite postdates the mafic complex. Two granite samples of the outermost margins in the Northeast and South were analyzed. The zircons were dated by precise isotope-dilution U-Pb techniques of chemically abraded single grains. The data are concordant within the analytical error and define weighted mean 206/238U ages of 12.59 ± 0.03 Ma and 12.58 ± 0.01 Ma for the two samples respectively. A 40Ar/39Ar-age for the second sample yield a date of 12.37 ± 0.11 Ma. Three 40Ar/39Ar -ages of biotites were obtained for rocks belonging to the mafic complex. A hbl-bio- granodiorite from the central part, approximately 150 m below the subhorizontal contact with the granite, gives an age of 12.81 ± 0.11 Ma. A hbl-bio-granodiorite and an olivine-gabbro west of the feeder-zone date at 12.42 ± 0.14 Ma and 12.49 ± 0.11 Ma, respectively. The obtained older age of 12.81 Ma for the granodiorite in the central part is consistent with structural relationships of brittle fracturing of the mafic

  6. Love(s in Clarice and Rui Torres

    Directory of Open Access Journals (Sweden)

    Keilla Conceição Petrin Grande

    2013-10-01

    Full Text Available This article, attempts to demonstrate one of several forms of dialogue between the portuguese literatures, proposes an anlysis of the short story Amor, by Clarice Lispector and the poem Amor de Clarice, by Rui Torres. Considering that the poem is from of a preexisting text, or an “hypotext”, as defined by Gennete, analyse these productions from the perspective of intersemiotic translation according the works of Julio Plaza and Claus Clüver, since these theorists treat the “translation” less as a transfer of meaning from the original, which should be subordinate to it, an activity which involves creating thus transforming. Also, the Torres’s (rewrinting proposes, as a poet, a way to make the contemporary literary criticism. Thus, this study will develop towards analyzing how text elements clariceano were (reproduced, (recreated, transformed in the poem Rui and how a work of twenty-first century can shed new questions, new perspectives and new reflections to text in the last century.

  7. Torre de Oficinas en la Península de Zorrotzaure, Bilbao.

    OpenAIRE

    Hevia Sánchez, Raúl de

    2015-01-01

    El proyecto se encuadra dentro de la península de Zorrotzaure, una zona industrial degradada en la que apenas hay hoy actividad. El alcance de este estudio es plantear diversas soluciones estructurales para el edificio que se planea construir y elegir la más adecuada atendiendo a conceptos tales como económicos, de plazo, funcionales y ambientales. El área no ocupada por la torre se destinará a aparcamientos, accesos y zonas verdes. Se planea construir una zona de aparcamiento para los trabaj...

  8. Generando conciencia ambiental en el asentamiento las Torres de San Borja

    OpenAIRE

    Burgos Jiménez, Jherica Elizabeth; Ulloa Prado, María Anabelen; Gil Leytón, José Francisco; Terrones Mejía, Gino; Diestra Romero, Mike

    2017-01-01

    Resumen El presente proyecto tiene como finalidad concientizar en el AA.HH. Las Torres de San Borja sobre el uso y cuidado que debemos tener con el medio ambiente. Debido a que sus recursos son de vital importancia se hace necesario crear una cultura para su cuidado. Nuestra primera actividad fue crear sensibilización en los ciudadanos mediante la difusión de folletos informativos sobre cuidado del medio ambiente y la importancia del reciclaje, además de colocar afiches donde había...

  9. Effective Behaviour Management Strategies for Australian Aboriginal and Torres Strait Islander Students: A Literature Review

    Science.gov (United States)

    Llewellyn, Linda L.; Boon, Helen J.; Lewthwaite, Brian E.

    2018-01-01

    This paper reports findings from a systematic literature review conducted to identify effective behaviour management strategies which create a positive learning environment for Aboriginal and Torres Strait Islander students. The search criteria employed resulted in 103 documents which were analysed in response to this focus. Results identified…

  10. Mathematics Funds of Knowledge: "Sotmaute" and "Sermaute" Fish in a Torres Strait Islander Community

    Science.gov (United States)

    Ewing, Bronwyn

    2012-01-01

    The purpose of this article is to describe a project with one Torres Strait Islander Community. It provides some insights into parents' funds of knowledge that are mathematical in nature, such as sorting shells and giving fish. The idea of funds of knowledge is based on the premise that people are competent and have knowledge that has been…

  11. Torre de Hanoi: datos normativos y desarrollo evolutivo de la planificación

    Directory of Open Access Journals (Sweden)

    Alicia Díaz

    2012-06-01

    Full Text Available El objetivo de este trabajo ha sido evaluar el desarrollo evolutivo de la planificación y obtener datos normativos de la prueba de planificación “Torre de Hanoi” en escolares de Educación Primaria (EP. Con este propósito se ha seleccionado una muestra de 1.032 alumnos/as escolarizados desde primero hasta sexto curso de EP en la Comunidad Autónoma de Canarias, con edades comprendidas entre los 6 años y 3 meses y los 12 años y 4 meses. Se analizó el número de diseños correctamente realizados por los escolares en los diferentes cursos. Los resultados encontrados ponen de manifiesto la existencia de tres momentos diferenciados en el desarrollo de la planificación, observándose un rendimiento inferior del alumnado de primer curso frente al resto de los cursos y un rendimiento más similar entre, por un lado, el alumnado de segundo, tercero y cuarto, y, por otro lado, entre el de quinto y sexto curso. Asimismo, se observa una mejora progresiva en la planificación -en función de la edad. Por último, se presenta el baremo para EP de la prueba “Torre de Hanoi”

  12. Absorption spectrum and absorption cross sections of the 2ν1 band of HO2 between 20 and 760 Torr air in the range 6636 and 6639 cm-1

    Science.gov (United States)

    Assaf, Emmanuel; Liu, Lu; Schoemaecker, Coralie; Fittschen, Christa

    2018-05-01

    The absorption spectrum of HO2 radicals has been measured in the range 6636-6639 cm-1 at several pressures between 20 and 760 Torr of air. Absolute absorption cross sections of the strongest line at around 6638.2 cm-1 have been determined from kinetic measurements, taking advantage of the well known rate constant of the self-reaction. Peak absorption cross sections of 22.6, 19.5, 14.4, 7.88, 5.12 and 3.23 × 10-20 cm2 were obtained at 20, 50, 100, 200, 400 and 760 Torr, respectively. By fitting these data, an empirical expression has been obtained for the absorption cross section of HO2 in the range 20-760 Torr air: σ6638.2cm-1 = 1.18 × 10-20 + (2.64 × 10-19 × (1-exp (-63.1/p (Torr))) cm2.

  13. Al margen de las Obras de Francisco de la Torre

    Directory of Open Access Journals (Sweden)

    Pérez-Abadín Barro, Soledad

    2003-12-01

    Full Text Available Francisco de la Torre's Works, published by Quevedo in 1631, enclose a second part, described in later years as an «appendix», with translations that did not belong in the original project prepared by the author some decades before. The summary of the 1588 license for printing describes the work's content as «lyric and adonic verse, and bucolic», without mentioning the translations. The new date throws into question the participation of Almeida and Brocense in the preparation and transmission of the manuscript that came to Quevedo. Therefore, the volume of 1631 cannot be considered as an example of salmantin group's collective poetical essay. Related chronological considerations also throw new light on the relationship between the author and Fernando de Herrera.Las Obras de Francisco de la Torre, publicadas por Quevedo en 1631, incluyen una segunda parte, que más tarde se llamaría «apéndice», con traducciones ajenas al proyecto inicial preparado por el propio autor décadas antes. El sumario de la licencia de impresión de 1588 describe el contenido de la obra aprobada como «los versos líricos y adónicos y la bucólica», sin mencionar las traducciones. La nueva fecha lleva a cuestionar el protagonismo de Almeida y el Brócense en la preparación y transmisión del manuscrito que más tarde llegaría a Quevedo. El volumen de 1631, por lo tanto, no puede considerarse como un exponente de un ejercicio poético colectivo del círculo salmantino. Los datos cronológicos también permiten replantear la relación del autor con Fernando de Herrera.

  14. The Aboriginal and Torres Strait Islander smoking epidemic: what stage are we at, and what does it mean?

    Directory of Open Access Journals (Sweden)

    Ray Lovett

    2017-10-01

    Full Text Available Smoking is the leading contributor to the burden of disease among Aboriginal and Torres Strait Islander Australians, and there is considerable potential for change. Understanding the epidemic stage may provide insight into probable trends in smoking-attributable mortality, and inform program and policy development. Tobacco use among Aboriginal and Torres Strait Islander Australians has declined substantially, accompanied by declining tobacco-related cardiovascular mortality. Based on the available evidence, we expect tobacco-related cancer mortality to remain high, but peak within the next decade; however, there is a critical need for improved evidence to make an accurate assessment. The continuation and expansion of comprehensive tobacco reduction measures is expected to further decrease tobacco use. Health gains will be observed over both the short and long term.

  15. The Anatomy of Directed Motivational Currents: Exploring Intense and Enduring Periods of L2 Motivation

    Science.gov (United States)

    Henry, Alastair; Dornyei, Zoltan; Davydenko, Sofia

    2015-01-01

    In a series of articles Dörnyei and his colleagues (Dörnyei, Ibrahim, & Muir, 2015; Dörnyei, Muir, & Ibrahim, 2014; Muir & Dörnyei, 2013) describe the phenomenon of a period of intense and enduring motivation in pursuit of a highly desired personal goal or vision. These surges of motivational energy, which they call "Directed…

  16. The Aboriginal and Torres Strait Islander casemix study.

    Science.gov (United States)

    Fisher, D A; Murray, J M; Cleary, M I; Brewerton, R E

    1998-10-19

    With increasing implementation of casemix-based funding for hospitals, quantitative data were needed to confirm the clinical impression that treating Aboriginal (compared with non-Aboriginal) inpatients consumes significantly more resources. Utilisation data, collected over a three-month period in 10 hospitals, were used to determine a cost per inpatient episode, which was grouped according to AN-DRG-3 to give a cost per AN-DRG for Aboriginal and Torres Strait Islander (ATSI) patients and non-ATSI patients. ATSI patients had consistently longer average length of stay and significant variation in relative frequency of admissions, compared with non-ATSI patients, with higher prevalences of infectious diseases. Degenerative and neoplastic conditions were more common in non-ATSI patients. There were significant differences in casemix-adjusted costs per patient episode (ATSI, $1856; non-ATSI, $1558; P < 0.001). Our study has quantified differential resource consumption between two Australian populations, and highlights the need for recognition of some hospitals' atypical populations and special funding requirements.

  17. Supporting Australian Torres Strait Islander and Aboriginal Nursing Students Using Mentoring Circles: An Action Research Study

    Science.gov (United States)

    Mills, Jane; Felton-Busch, Catrina; Park, Tanya; Maza, Karen; Mills, Frances; Ghee, McCauley; Hitchins, Marnie; Chamberlain-Salaun, Jennifer; Neuendorf, Nalisa

    2014-01-01

    Attempts to recruit Aboriginal and Torres Strait Islander students into nursing degrees have made minimal impact on the number of registered nurses working in Australia's healthcare sector. Yet increasing the number of Indigenous nurses remains one of the most important objectives in strategies to close the health gap between Indigenous and…

  18. Serum vitamin D levels, diabetes and cardio-metabolic risk factors in Aboriginal and Torres Strait Islander Australians.

    Science.gov (United States)

    Maple-Brown, Louise J; Hughes, Jaquelyne T; Lu, Zhong X; Jeyaraman, Kanakamani; Lawton, Paul; Jones, Graham Rd; Ellis, Andrew; Sinha, Ashim; Cass, Alan; MacIsaac, Richard J; Jerums, George; O'Dea, Kerin

    2014-01-01

    Low levels of serum 25-hydroxy vitamin D (25(OH)D), have been associated with development of type 2 diabetes and cardiovascular disease (CVD); however there are limited data on serum 25(OH)D in Indigenous Australians, a population at high risk for both diabetes and CVD. We aimed to assess levels of serum 25(OH)D in Aboriginal and Torres Strait Islander Australians and to explore relationships between 25(OH)D and cardio-metabolic risk factors and diabetes. 592 Aboriginal and/or Torres Strait Islander Australian participants of The eGFR (estimated glomerular filtration rate) Study, a cross-sectional analysis of a cohort study performed in 2007-2011, from urban and remote centres within communities, primary care and tertiary hospitals across Northern Territory, Far North Queensland and Western Australia. Assessment of serum 25(OH)D, cardio-metabolic risk factors (central obesity, diabetes, hypertension, history of cardiovascular disease, current smoker, low HDL-cholesterol), and diabetes (by history or HbA1c ≥6.5%) was performed. Associations were explored between 25(OH)D and outcome measures of diabetes and number of cardio-metabolic risk factors. The median (IQR) serum 25(OH)D was 60 (45-77) nmol/L, 31% had 25(OH)D 72 nmol/L, respectively) after adjusting for known cardio-metabolic risk factors. The percentage of 25(OH)D levels Aboriginal and Torres Strait Islander Australians from Northern and Central Australia. Low 25(OH)D level was associated with adverse cardio-metabolic risk profile and was independently associated with diabetes. These findings require exploration in longitudinal studies.

  19. La torre del Danubio, en Viena

    Directory of Open Access Journals (Sweden)

    Schmidt, Wilhelm

    1965-04-01

    Full Text Available The symbolic tower of the horticultural exhibition, held recently in Vienna, is a 260 m high structure made of reinforced concrete. Of the total height, 181 m constitute the stem, and the rest is made up of a metallic needle. Inside the tower there are two lifts, each with capacity for 15 people, and a travelling velocity of 6.5 m/sec. In the top 31 ms of the stem there are two terraces, a bar and a restaurant: they provide a wonderful view of the city and the surrounding district. The vertical outline of the stem is an arc of a parabola. A sliding formwork has been utilized for its construction, and a height of 4 m has been concreted every day: this has meant a movement of 25 cm of the formwork every hour. The tower has a weight of 17000 tons, which imposes large loads on the foundation. To withstand these, the foundations have been made in the form of a truncated cone, with a cylindrical hollow core. The base of the cone has an external diameter of 31 m, and an internal diameter of 10.20 m. A compression hoop strengthens the joint between the foundation cone and the stem itself. Although this tower is located in the centre of the city, it harmonizes very well with the surrounding buildings.La torre simbólica de la Exposición de Horticultura, celebrada recientemente en Viena (Austria, es de hormigón armado y tiene 260 m de altura total, de los que 181 corresponden al fuste y el resto a una aguja metálica. En el interior del fuste se han instalado dos ascensores para 15 personas cada uno, con una velocidad de 6,5 m por segundo. En los últimos 31 m se han montado terrazas, un bar y un restaurante, constituyendo las primeras unos magníficos miradores para contemplar la ciudad y sus alrededores- Dicho fuste es de hormigón armado y tiene un perfil en arco de parábola. Su construcción se ha realizado utilizando encofrados deslizantes. Se hormigonó a un ritmo de 4 m por día y una velocidad de corrimientos de los encofrados de 0,25 m por

  20. [B_Erandio_Martiartu] Documentación del conjunto formado por la Torre de Martiartu y la ermita de San Antonio (Erandio, Bizkaia)

    OpenAIRE

    Álvarez González, Irantzu; Lopetegi Galarraga, Ane; Mesanza Moraza, Amaia; Rodríguez Miranda, Álvaro; Valle Melón, José Manuel

    2002-01-01

    [ES] El conjunto está formado por la torre de Martiartu (de unas 16 x 16 metros de planta), la pequeña ermita de la San Antonio y el área circundante. La documentación de la torre se realiza mediante fotogrametría estereoscópica y rectificación fotográfica para la obtención de las ortoimágenes. La ermita de San Antonio y el entorno se ha documentado mediante estación total y mallado para crear un modelo de superficies tridimensional. Posteriormente se presentan los modelos 3D y la colecció...

  1. Hamartomatous polyposis syndromes

    DEFF Research Database (Denmark)

    Jelsig, Anne Marie; Qvist, Niels; Brusgaard, Klaus

    2014-01-01

    Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as ......Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes...

  2. A review of the use of Al-alloy vacuum components for operation at 10-13 Torr

    Science.gov (United States)

    Ishimaru, Hajime

    1990-02-01

    An extremely high vacuum (XHV) chamber was fabricated and tested. The vacuum chamber was made of special surface finished (EX-process) aluminum alloy in oxygen and argon atmosphere. The chamber was assembled using TIG welding in an argon atmosphere and by electron beam welding. The system was evacuated with a turbo-backed 300 l/s turbomolecular pump separated from the main chamber using a right angle valve. The liquid nitrogen shroud is installed inside the main vacuum chamber. The XHV is maintained by two 300 l/s sputter ion pumps and a titanium sublimation pump with a liquid nitrogen shroud. These pumps are also made of aluminum alloys. An ultimate pressure of 3×10-13 Torr was measured with a point collector gauge with a spherical anode mounted on an Al-flange. Residual gas analysis in the order 10-13 Torr was performed by a newly developed Q-mass filter. To suppress outgassing from the quadrupole electrode, the ion source is mounted on an Al-flange separated from the quadrupole electrode.

  3. Study protocol: a pragmatic randomised controlled trial of a 12-week physical activity and nutritional education program for overweight Aboriginal and Torres Strait Islander women

    Directory of Open Access Journals (Sweden)

    Cargo Margaret

    2011-08-01

    Full Text Available Abstract Background Aboriginal and Torres Strait Islander women have a higher prevalence and incidence of obesity and type 2 diabetes than non-Indigenous Australian women. Physical inactivity is a key modifiable risk factor for obesity and evidence shows that even modest reductions in waist circumference (WC have significant health benefits. Trialing physical activity programs in difficult-to-reach high risk groups, especially urban Indigenous Australians poses distinct implementation challenges. Methods/Design The trial objective is to evaluate the effectiveness of a structured 12-week physical activity group program with nutritional advice. The design is a pragmatic randomised controlled trial. This study protocol describes the implementation and evaluation of the program. Participants are randomised into either an intervention or waitlisted group. The waitlisted group have a 12 month waiting period before commencing the 12-week program. Participant data is collected at baseline, 12, 24 and 52 weeks. Participants are Aboriginal and Torres Strait Islander women, aged 18-64 years with a waist circumference greater than 80 centimetres residing in Adelaide. The primary outcome measure is WC change immediately post program from baseline. Secondary outcomes include short term and long term changes in WC, weight, blood pressure, fasting blood glucose, insulin, insulin resistance (calculated HOMA, haemoglobin A1C (HbA1C, triglycerides and C-reactive protein (CRP. Behavioural and psychosocial surveys are administered to assess physical activity, dietary intake and the participant's motivation, self-efficacy and perceived social support for physical activity. Qualitative interviews focusing on participants' motivation, enablers and barriers to healthy eating and physical activity will be undertaken. Implementation fidelity and participation are also assessed. Discussion The Aboriginal and Torres Strait Islander Women's Fitness Program (WFP is designed

  4. DiamondTorre Algorithm for High-Performance Wave Modeling

    Directory of Open Access Journals (Sweden)

    Vadim Levchenko

    2016-08-01

    Full Text Available Effective algorithms of physical media numerical modeling problems’ solution are discussed. The computation rate of such problems is limited by memory bandwidth if implemented with traditional algorithms. The numerical solution of the wave equation is considered. A finite difference scheme with a cross stencil and a high order of approximation is used. The DiamondTorre algorithm is constructed, with regard to the specifics of the GPGPU’s (general purpose graphical processing unit memory hierarchy and parallelism. The advantages of these algorithms are a high level of data localization, as well as the property of asynchrony, which allows one to effectively utilize all levels of GPGPU parallelism. The computational intensity of the algorithm is greater than the one for the best traditional algorithms with stepwise synchronization. As a consequence, it becomes possible to overcome the above-mentioned limitation. The algorithm is implemented with CUDA. For the scheme with the second order of approximation, the calculation performance of 50 billion cells per second is achieved. This exceeds the result of the best traditional algorithm by a factor of five.

  5. Adjusting for under-identification of Aboriginal and/or Torres Strait Islander births in time series produced from birth records: Using record linkage of survey data and administrative data sources

    Directory of Open Access Journals (Sweden)

    Lawrence David

    2012-07-01

    Full Text Available Abstract Background Statistical time series derived from administrative data sets form key indicators in measuring progress in addressing disadvantage in Aboriginal and Torres Strait Islander populations in Australia. However, inconsistencies in the reporting of Indigenous status can cause difficulties in producing reliable indicators. External data sources, such as survey data, provide a means of assessing the consistency of administrative data and may be used to adjust statistics based on administrative data sources. Methods We used record linkage between a large-scale survey (the Western Australian Aboriginal Child Health Survey, and two administrative data sources (the Western Australia (WA Register of Births and the WA Midwives’ Notification System to compare the degree of consistency in determining Indigenous status of children between the two sources. We then used a logistic regression model predicting probability of consistency between the two sources to estimate the probability of each record on the two administrative data sources being identified as being of Aboriginal and/or Torres Strait Islander origin in a survey. By summing these probabilities we produced model-adjusted time series of neonatal outcomes for Aboriginal and/or Torres Strait Islander births. Results Compared to survey data, information based only on the two administrative data sources identified substantially fewer Aboriginal and/or Torres Strait Islander births. However, these births were not randomly distributed. Births of children identified as being of Aboriginal and/or Torres Strait Islander origin in the survey only were more likely to be living in urban areas, in less disadvantaged areas, and to have only one parent who identifies as being of Aboriginal and/or Torres Strait Islander origin, particularly the father. They were also more likely to have better health and wellbeing outcomes. Applying an adjustment model based on the linked survey data increased

  6. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

    Science.gov (United States)

    Woods, C G; Stricker, S; Seemann, P; Stern, R; Cox, J; Sherridan, E; Roberts, E; Springell, K; Scott, S; Karbani, G; Sharif, S M; Toomes, C; Bond, J; Kumar, D; Al-Gazali, L; Mundlos, S

    2006-08-01

    Fuhrmann syndrome and the Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome are considered to be distinct limb-malformation disorders characterized by various degrees of limb aplasia/hypoplasia and joint dysplasia in humans. In families with these syndromes, we found homozygous missense mutations in the dorsoventral-patterning gene WNT7A and confirmed their functional significance in retroviral-mediated transfection of chicken mesenchyme cell cultures and developing limbs. The results suggest that a partial loss of WNT7A function causes Fuhrmann syndrome (and a phenotype similar to mouse Wnt7a knockout), whereas the more-severe limb truncation phenotypes observed in Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome result from null mutations (and cause a phenotype similar to mouse Shh knockout). These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development.

  7. Using systems thinking and the Intervention Level Framework to analyse public health planning for complex problems: Otitis media in Aboriginal and Torres Strait Islander children.

    Science.gov (United States)

    Durham, Jo; Schubert, Lisa; Vaughan, Lisa; Willis, Cameron D

    2018-01-01

    documents were reviewed. We examined surveys and interviews with six key informants. Twenty-four individual and 3 group interviews were conducted across central and community level informants. One hundred and four items were coded from the 20 documents and 156 items from interview data. For both data sets, the majority of activities were coded at the structural elements level. The results suggested three key areas where further work is needed to drive sustained improvements: 1) build the governance structures needed for paradigm shift to achieve a multi-sectoral approach; 2) develop shared system level goals; 3) develop system-wide feedback processes. Sustained progress in improving ear health within Aboriginal and Torres Strait Islander children requires a holistic, system-wide approach. To advance such work, governance structures for multi-sectoral collaboration including the development of joint goals and monitoring and feedback are required. Intervening at these higher leverage points could have a profound effect on persistent public health issues.

  8. Las torres y atalayas de la costa tropical. ¿un recurso turístico pendiente de explotación?

    OpenAIRE

    Sánchez Holgado, José Ramón

    2015-01-01

    De las distintas fortalezas que en la actualidad se conservan distribuidas a lo largo del perímetro costero granadino, caracterizadas todas ellas por haber compartido la especial misión de integrar el sistema defensivo del reino, las torres y atalayas

  9. Appropriate Health Promotion for Australian Aboriginal and Torres Strait Islander Communities

    DEFF Research Database (Denmark)

    Demaio, Alessandro Rhyll; Drysdale, Marlene; de Courten, Maximilian

    2012-01-01

    building, community empowerment and local ownership. Culturally-Appropriate Health Promotion is a framework of principles developed in 2008 with the World Health Organization (Geneva) and Global Alliance for Health Promotion. It guides community-focused health promotion practice built on and shaped...... by the respect, understanding and utilisation of local knowledge and culture. Culturally-Appropriate Health Promotion is not about ‘targeting’, ‘intervening’ or ‘responding’. Rather, it results in health program planners and policy-makers understanding, respecting, empowering and collaborating with communities......, and their socio-cultural environment, towards better health. This commentary aims to examine and apply the 8 principles of Culturally-Appropriate Health Promotion to the Australian Aboriginal and Torres Strait Islander context. It proposes its widespread adoption as a framework for a more respectful...

  10. Visibility in health statistics: a population data linkage study more accurately identifying Aboriginal and Torres Strait Islander Births in Victoria, Australia, 1988-2008

    Directory of Open Access Journals (Sweden)

    Rebecca Ritte

    2017-04-01

    This is the first time that the VPDC and RBDM birth data were linked in Victoria. The matched birth information established a more complete population profile of Aboriginal and/or Torres Strait Islander births. These data will provide a more accurate baseline to enhance the Victorian and Australian governments’ ability to plan services, allocate resources and evaluate funded activities aimed at eliminating disparity experienced by Aboriginal and/or Torres Strait Islander peoples. Importantly, it has established a more accurate denominator from which to calculate Aboriginal infant mortality rates for Victoria, Australia. *Until 2009, the mother’s Indigenous identification only was recorded in the VPDC

  11. Delivery of eye and vision services in Aboriginal and Torres Strait Islander primary health care centres

    Directory of Open Access Journals (Sweden)

    Anthea M Burnett

    2016-12-01

    Full Text Available Background: Routine eye and vision assessments are vital for the detection and subsequent management of vision loss, which is particularly important for Aboriginal and Torres Strait Islander people, who face higher rates of vision loss than other Australians. In order to guide improvements, this paper will describe patterns, variations and gaps in these eye and vision assessments for Aboriginal and Torres Strait Islander people. Methods: Clinical audits from 124 primary health care centres (sample size 15,175 from five Australian States and Territories were conducted during 2005-2012. Main outcome measure was adherence to current guidelines for delivery of eye and vision assessments to adults with diabetes, those without a diagnosed major chronic disease and children attending primary health care centres. Results: Overall delivery of recommended eye and vision assessments varied widely between health centres. Of the adults with diabetes, 45% had a visual acuity assessment recorded within the previous 12 months (health centre range 0-88%, and 33% had a retinal examination recorded (health centre range 0-73%. Of the adults with no diagnosed major chronic disease, 31% had a visual acuity assessment recorded within the previous two years (health centre range 0-30%, and 13% had received an examination for trichiasis (health centre range 0-40%. In children, 49% had a record of a vision assessment (health centre range 0-97%, and 25% had a record of an examination for trachoma within the previous 12 months (health centre range 0-63%. Conclusions: There was considerable range, and variation in the recorded delivery of scheduled eye and vision assessments across health centres. Sharing the successful strategies of the better-performing health centres to support focused improvements in key areas of need may increase overall rates of eye examinations – important for the timely detection, referral and treatment of eye conditions affecting Aboriginal and

  12. Fluid and heat transport at the Torres del Paine laccolith (Patagonia/Chile)

    International Nuclear Information System (INIS)

    Putliz, B; Baumgartner, L.P; Oberhansli, R; Diamond, L; Altenberger, U

    2001-01-01

    The 12 Ma old Torres del Paine laccolith (TPL) is part of a chain of isolated Miocene plutons and subvolcanic rocks which intruded the foothills of the southern Andes of Chile and Argentina (Halpern, 1973; Michael, 1984). The 12x12 km big laccolith, an I-type granite, intruded mudstones, sandstones, carbonates and conglomerates of the Cretaceous Cerro Torre and Punta Barrosa formation (Wilson, 1991) creating a well defined, but small contact aureole of 200-400m width. The TPL contains abundant textural evidence of fluid exsolution and eutectic crystallisation. It hence represents a good example for the transport of large quantities of magmatic aqueous fluids to the uppermost level of the crust. The pluton is well exposed and its rugged topography allows the investigation of the roof, the lateral rims and the base of the intrusion. Field and textural observations, phase petrological constraints, oxygen isotope and fluid inclusion data are used to unravel mechanism and patterns of fluid and heat transport in the intrusion and the contact aureole. The Torres del Paine Intrusives form a calcalkaline suite, ranging from gabbros through diorites to leucogranites. The intrusive body has the general shape of a laccolith (Skarmeta and Castelli, 1997). Gabbroic and dioritic rocks are only exposed at the lower levels. Granites are clearly predominant - the main body of the laccolith is composed of a fine to medium grained biotite-orthoclase granite. The TPL is remarkable for its abundance of miarolitic cavities. Locally, at the margins of the pluton, a microgranitic phase is found with up to 15% of cavities. While some miaroles are isolated, others are interconnected, forming tube-like structures. Open miaroles contain euhedral crystals of quartz and feldspar. Other important phases are biotite, tourmaline, fayalite and late chlorite and carbonate. Individual crystals are typically between < 1cm up to a few cm in length. Some miaroles are completely filled with coarse quartz

  13. Torre «Reunión», en Dallas Texas - EE. UU.

    Directory of Open Access Journals (Sweden)

    Becket, Welton

    1980-12-01

    Full Text Available The Reunion Tower, 50 stories and 170 m high, along with the adjacent 1,000 room hotel, constitutes the first phase of an urbanistic rehabilitation complex for a plot of 20 hectares, located in the South-West sector of the city's shopping centre. Due to its singular characteristics, the Tower has in fact already become a clear identifying mark in the city of Dallas. Right at the top, it ends in a geodesic dome, in three levels, that amount to over 2,300 m2 of the total area, and where there is a restaurant on rotating platform, a cocktail room of the same characteristics, an observation terrace and a radio station. The project has been given the award of the Reinforced Cement Institute, and that of the American Institute of Architects (AIA corresponding to Los Angeles.

    La Torre «Reunión», de 50 plantas y 170 m de altura constituye, junto con el hotel de 1.000 habitaciones adyacente, la primera fase de un complejo de rehabilitación urbanística para una parcela de 20 hectáreas situada en el sector suroeste del centro comercial de la ciudad. De hecho, por sus singulares características, la Torre se ha convertido ya en una clara señal de identidad de la ciudad de Dallas. En su extremo superior está rematada por una cúpula geodésica, con tres niveles que suman más de 2.300 m2 de superficie total, y en los que están distribuidos un restaurante sobre plataforma giratoria, una sala de cocktails de iguales características, una terraza de observación y una emisora de radio. El proyecto ha merecido el premio concedido por el Instituto del Cemento Armado, y el del Instituto Americano de Arquitectos (AIA, correspondiente a Los Angeles.

  14. Entre experiência e invenção: incidências autobiográficas em Antônio Torres

    Directory of Open Access Journals (Sweden)

    Rogério Gustavo Gonçalves

    2016-01-01

    Full Text Available En la literatura de Antonio Torres, la presencia de elementos que hacen referencia a las experiencias personales y a las características específicas de su vida, elaborados artísticamente, hace que el memorialismo, que gobierna la narración de la historia d e los personajes, mézclese, a veces, con recuerdos íntimos del escritor. Basando - se en estas características, este artículo pretende estudiar, en las novelas de Antonio Torres, los procedimientos de ficcionalización de la experiencia, dada su importancia e n el proceso de construcción narrativa y en la relación autor - texto - lector. De la lectura dialógica de la totalidad de su obra, buscamos comprender la delineación de un "mito del escritor" o de una personalidad literaria y la consiguiente construcción de u n espacio autobiográfico, que se traduce en un universo ficticio singular donde personajes, temas y situaciones reaparecen con frecuencia, produciendo un enlace comunicativo entre los textos y causando la familiaridad inmediata del lector. Además de la pro ducción de una imagen literaria de Antonio Torres, nos fijamos en cómo la migración de elementos personales a su obra permite la entrada de información de la realidad socio - política de que es testigo en la esfera ficcional. Aprovechando su tierra y su pueb lo para retratar el impacto del cambio social en la gente del sertão del noreste de Brasil, la obra del autor termina expresando la preocupación de mostrar la crisis de identidad de estos sujetos del noreste, unida a los recuerdos de un pasado que no se re concilia al momento actual.

  15. Nephrogenic diabetes insipidus in a patient with L1 syndrome: a new report of a contiguous gene deletion syndrome including L1CAM and AVPR2.

    Science.gov (United States)

    Knops, Noël B B; Bos, Krista K; Kerstjens, Mieke; van Dael, Karin; Vos, Yvonne J

    2008-07-15

    We report on an infant boy with congenital hydrocephalus due to L1 syndrome and polyuria due to diabetes insipidus. We initially believed his excessive urine loss was from central diabetes insipidus and that the cerebral malformation caused a secondary insufficient pituitary vasopressin release. However, he failed to respond to treatment with a vasopressin analogue, which pointed to nephrogenic diabetes insipidus (NDI). L1 syndrome and X-linked NDI are distinct clinical disorders caused by mutations in the L1CAM and AVPR2 genes, respectively, located in adjacent positions in Xq28. In this boy we found a deletion of 61,577 basepairs encompassing the entire L1CAM and AVPR2 genes and extending into intron 7 of the ARHGAP4 gene. To our knowledge this is the first description of a patient with a deletion of these three genes. He is the second patient to be described with L1 syndrome and NDI. During follow-up he manifested complications from the hydrocephalus and NDI including global developmental delay and growth failure with low IGF-1 and hypothyroidism. 2008 Wiley-Liss, Inc.

  16. [Functional results of Hirschsprung's disease patients after Duhamel and De la Torre procedures].

    Science.gov (United States)

    Fernández Ibieta, M; Sánchez Morote, J M; Martínez Castaño, I; Reyes Ríos, P; Cabrejos Perotti, K; Rojas Ticona, J; Ruiz Pruneda, R; Aranda García, M J; Roqués Serradilla, J L; Trujillo Ascanio, A; Hernández Bermejo, J P; Ruiz Jiménez, J I

    2013-10-01

    Long term results of different surgical techniques in Hirschsprung's Disease (HD) are contradictory. There are still no long term large or multicentric reports about functional results of De la Torre technique. We have studied the mid term functional results of the patients operated on Duhamel (D) and De la Torre (dlT) pull-through procedures. We collected data from medical records and telephone interviews of the HD patients operated in our unit in the last 16 years. 38 patients were found. Ages ranged from 1.5 to 21 years. Mean age was 7.7 years. Median follow up was 5.9 years. 33 (86.8%) had rectosigmoid disease and 5 (13.2%) had long segment disease. D procedure was performed in 17 (44.7%), Soave in 1 (2.6%), Duhamel-Lester-Martin in 4 (10.5%) and dlT pull-through in 16(42%). In the last visit record, 12 (31.6%), had constipation, and fecal leaks were noted in 11 (33.3%) of the 33 patients > or = 4 years old.. 10 patients (29.4% of the > or = 4 years old group) referred encopresis along the follow-up. Patients from the D group referred higher rates of constipation than those in the dlT group (53.3% vs 20% p=0.048). dlT patients referred more frequency of leaks (46,1% vs 13,3%, p=0,05) Children with very short resections (Encopresis was similar in all groups. Both techniques show similar functional results in the mid term, although children in the D group were more prone to constipation and those in the dlT group presented more fecal leaks. All patients with EH need long follow-ups.

  17. With good intentions: complexity in unsolicited informal support for Aboriginal and Torres Strait Islander peoples. A qualitative study

    Directory of Open Access Journals (Sweden)

    Aspin Clive

    2011-09-01

    Full Text Available Abstract Background Understanding people's social lived experiences of chronic illness is fundamental to improving health service delivery and health outcomes, particularly in relation to self-management activity. In explorations of social lived experiences this paper uncovers the ways in which Aboriginal and Torres Strait Islander people with chronic illness experience informal unsolicited support from peers and family members. Methods Nineteen Aboriginal and Torres Islander participants were interviewed in the Serious and Continuing Illness Policy and Practice Study (SCIPPS. Participants were people with Type 2 diabetes (N = 17, chronic obstructive pulmonary disease (N = 3 and/or chronic heart failure (N = 11 and family carers (N = 3. Participants were asked to describe their experience of having or caring for someone with chronic illness. Content and thematic analysis of in-depth semi-structured interviews was undertaken, assisted by QSR Nvivo8 software. Results Participants reported receiving several forms of unsolicited support, including encouragement, practical suggestions for managing, nagging, growling, and surveillance. Additionally, participants had engaged in 'yarning', creating a 'yarn' space, the function of which was distinguished as another important form of unsolicited support. The implications of recognising these various support forms are discussed in relation to responses to unsolicited support as well as the needs of family carers in providing effective informal support. Conclusions Certain locations of responsibility are anxiety producing. Family carers must be supported in appropriate education so that they can provide both solicited and unsolicited support in effective ways. Such educational support would have the added benefit of helping to reduce carer anxieties about caring roles and responsibilities. Mainstream health services would benefit from fostering environments that encourage informal interactions that

  18. Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus.

    Science.gov (United States)

    Tüysüz, Beyhan; Collin, Anna; Arapoğlu, Müjde; Suyugül, Nezir

    2009-10-01

    Waardenburg-Shah syndrome (Waardenburg syndrome type IV-WS4) is an auditory-pigmentary disorder that combines clinical features of pigmentary abnormalities of the skin, hair and irides, sensorineural hearing loss, and Hirschsprung disease (HSCR). Mutations in the endothelin-B receptor (EDNRB) gene on 13q22 have been found to cause this syndrome. Mutations in both alleles cause the full phenotype, while heterozygous mutations cause isolated HSCR or HSCR with minor pigmentary anomalies and/or sensorineural deafness. We investigated the status of the EDNRB gene, by FISH analysis, in three patients with de novo proximal 13q deletions detected at cytogenetic analysis and examined the clinical variability of WS4 among these patients. Chromosome 13q was screened with locus specific FISH probes and breakpoints were determined at 13q22.1q31.3 in Patients 1 and 3, and at 13q21.1q31.3 in Patient 2. An EDNRB specific FISH probe was deleted in all three patients. All patients had common facial features seen in proximal 13q deletion syndrome and mild mental retardation. However, findings related to WS4 were variable; Patient 1 had hypopigmentation of the irides and HSCR, Patient 2 had prominent bicolored irides and mild bilateral hearing loss, and Patient 3 had only mild unilateral hearing loss. These data contribute new insights into the pathogenesis of WS4.

  19. Diabetic Foot Care: Developing Culturally Appropriate Educational Tools for Aboriginal and Torres Strait Islander Peoples in the Northern Territory, Australia.

    Science.gov (United States)

    Watson, Jennifer; Obersteller, Elizabeth A.; Rennie, Linda; Whitbread, Cherie

    2001-01-01

    Participatory research in Australia's Northern Territory sought opinions from nurses, general practitioners, Aboriginal health workers, and Aboriginal and Torres Strait Islanders on the development of culturally relevant foot care education for Indigenous people with diabetes. They decided to use a visual approach (posters and flip charts) to…

  20. Getting it Right: Study protocol to determine the diagnostic accuracy of a culturally-specific measure to screen for depression in Aboriginal and/or Torres Strait Islander people

    DEFF Research Database (Denmark)

    Hackett, Maree L.; Hackett, Maree L.; Farnbach, Sara

    2016-01-01

    for a study aiming to determine the validity, sensitivity and specificity of the culturally adapted 9-item Patient Health Questionnaire (aPHQ-9). Methods and analysis Cross-sectional validation study. A total of 500 people who self-identify as Aboriginal and/or Torres Strait Islander, are ≥18 €...years of age......© Published by the BMJ Publishing Group Limited. Introduction A freely available, culturally valid depression screening tool is required for use by primary care services across Australia to screen for depression in Aboriginal and/or Torres Strait Islander populations. This is the protocol...

  1. Survey of the University "Luis Vargas Torres" through Econometric Techniques. Comprehensive Income

    Directory of Open Access Journals (Sweden)

    Ramón Rodríguez-Betancourt

    2015-12-01

    Full Text Available Government Programme 2013-2017 defines in higher education, the principles of the curriculum proposals of much public interest careers. In this regard the authorities of the Technical University "Luis Vargas Torres" of Esmeraldas, have taken the decision to evaluate its management and action against the development of the province and the country. Therefore, the objective of this research is the application of a survey of students of different specialties, Faculty of Engineering and Technology to explore their views on the educational process, research, outreach, culture and sport, stratified random sampling with results showing that key processes are completed by 66% on average is applied, indicating that the authority still has to set goals to overcome the short comings that have an emphasis on research.

  2. Striking association between urinary cadmium level and albuminuria among Torres Strait Islander people with diabetes

    International Nuclear Information System (INIS)

    Haswell-Elkins, Melissa; Satarug, Soisungwan; O'Rourke, Peter; Moore, Michael; Ng, Jack; McGrath, Victor; Walmby, Maria

    2008-01-01

    Objectives: Indigenous people of the Torres Strait (Australia) have greater potential for cadmium exposure and renal damage than other Australians due to high cadmium in some traditional seafood and a high prevalence of Type 2 diabetes, hypertension, smoking, and obesity. This study explored associations between albuminuria and an index of cadmium exposure (urinary cadmium excretion) in the presence and absence of Type 2 diabetes. Research design and methods: Two population-based, cross-sectional studies were undertaken in the Torres Strait to obtain data on body mass index (BMI), blood pressure, chronic disease, smoking, urinary cadmium, and albumin creatinine ratio (ACR). Results: Age- and BMI-adjusted urinary cadmium levels were significantly higher (p<0.01) among people with diabetes and albuminuria (n=22, geometric mean (GM) 1.91 μg Cd/g creatinine) compared to those with diabetes and normal ACR (n=21, GM 0.74 μg Cd/g creatinine). Urinary cadmium was also strongly associated (p<0.001) with ACR among people with diabetes in regression models and remained significant after controlling for age, sex, BMI, smoking status, and hypertension (or continuous systolic and diastolic measurements). Conclusions: While the study has methodological limitations and the nature of the association is unclear, the striking dose-dependent links between markers of cadmium exposure and of Type 2 diabetic nephropathy highlight the need for further definitive research on the health effects of cadmium in the presence of diabetes

  3. A simple diabetes vascular severity staging instrument and its application to a Torres Strait Islander and Aboriginal adult cohort of north Australia

    Directory of Open Access Journals (Sweden)

    Gibson Odette R

    2012-07-01

    Full Text Available Abstract Background To develop an instrument that predicts diabetes-related vascular disease severity using routinely collected data on Australian Aboriginal and Torres Strait Islander adults with type 2 diabetes, in the absence of diabetes duration. Methods A complex diabetes severity classification system was simplified and adapted for use with an Australian Aboriginal and Torres Strait Islander adult population with type 2 diabetes in north Queensland. Detailed vascular health risks and morbidities were mapped to routinely collected measures. Individual–level health screening, hospital separation and mortality data were linked and used to plot mean monthly in-patient hospital cost and percent mortality by disease severity as defined by the newly developed instrument, to test construct validity. Results The revised instrument consists of four combined diabetes-related microvascular and macrovascular stages that range from least severe (stage 1 to severe irreversible vascular impairment (stage 4. When applied to data of an Aboriginal and Torres Strait Islander Australian population the instrument showed good construct validity, predicting higher hospital cost and mortality as vascular disease severity increased. Conclusions This instrument discriminates between levels of diabetes-related vascular disease severity, displays good construct validity by predicting increased hospital cost and mortality with worsening severity and can be populated with routinely collected data. It may assist with future health service research and its use could be extended to practice settings for health care planning for diabetes management programs and monitoring vascular disease progression.

  4. Memória hagiográfica e movimentos sociais urbanos: A militância de Antoine de Magarinos Torres Filho nas favelas cariocas

    Directory of Open Access Journals (Sweden)

    Mauro Amoroso

    2015-10-01

    Full Text Available Este artigo reflete sobre a história e a memória da atuação do advogado Antoine de Magarinos Torres Filho nos anos 1950 e 1960. Ligado ao Partido Comunista Brasileiro, o advogado foi um dos principais envolvidos na criação da União dos Trabalhadores Favelados (UTF, um dos primeiros órgãos a ter como objetivo organizar a ação conjunta de associações de moradores de favelas, além de projetos que visassem à construção de uma via de acesso ao “direito à cidade” para os moradores desses espaços. Sua atuação acabou sendo significada por diferentes olhares, o que será debatido a partir de suas ações em duas regiões distintas, a Favela do Borel e a região da Maré. The article Hagiographic Memory and Urban Social Movements: The Militancy of Antoine de Maga­rinos Torres Filho in the Favelas of Rio de Janeiro debates the history and memory of Antoine de Maga­rinos Torres Filho in the 1950s and 1960s. Connected to the Brazilian Communist Party, the lawyer was one of the main participants in the creation of the Union of the Favela Workers (UTF, one of the the first organizations to aim to empower the joint action of favela residents’ asso­ciations, as well as projects aimed at building the ways to acess the “rights to the city” for residents of these spaces. His action ended up being signified by different points of view, which will be debated based on his actions in two distinct regions, the Favela do Borel and the Maré region.Keywords: Antoine de Magarinos Torres, União dos Trabalhadores Favelados (UTF, associativism, Borel, Maré

  5. Antiphospholipid syndrome (APS) revisited: Would migraine headaches be included in future classification criteria?

    Science.gov (United States)

    Noureldine, Mohammad Hassan A; Haydar, Ali A; Berjawi, Ahmad; Elnawar, Rody; Sweid, Ahmad; Khamashta, Munther A; Hughes, Graham R V; Uthman, Imad

    2017-02-01

    Headaches have been extensively reported in Antiphospholipid syndrome (APS)/Antiphospholipid antibodies (aPL)-positive patients. The aim of this study was to highlight the prevalence of headaches among APS/aPL-positive patients and discuss its association with laboratory, clinical and imaging findings. We searched the literature through Google Scholar and PubMed for publications on the epidemiology, pathogenesis, laboratory, imaging and clinical findings, and management of headaches in APS/aPL-positive patients. The following keywords were used: Antiphospholipid, Hughes syndrome, anticardiolipin, lupus anticoagulant, anti-β2 glycoprotein I, headache, migraine, tension, and cluster. All reports published between 1969 and 2015 were included. Migraine is the most commonly reported type of headache in APS/aPL-positive patients. Thrombotic and platelet dysfunction hypotheses have been studied to uncover the pathogenic role of aPL in the development of headaches. Several studies are reporting higher levels of aPL in primary and secondary APS migraineurs, but only few reached statistical significance. Migraine patients without clinical signs/symptoms of cerebral infarction rarely show positive imaging findings. Digital subtraction angiography shows promise in demonstrating small vascular lesions otherwise not detected on computed tomography, magnetic resonance imaging, or cerebral angiograms. Although it may be solitary and harmless in many cases, the deleterious effect of migraine on the quality of life of APS patients prompts rapid diagnosis and proper management. An anticoagulation trial is advisable in APS patients with migraine as many cases of severe, refractory migraine resolved with anticoagulation therapy. The profile of migraine headaches discussed in this study permits its candidacy for inclusion in future APS classification criteria.

  6. Effect of Citrus floral extracts on the foraging behavior of the stingless bee Scaptotrigona pectoralis (Dalla Torre)

    OpenAIRE

    Grajales-Conesa,Julieta; Meléndez Ramírez,Virginia; Cruz-López,Leopoldo; Sánchez Guillén,Daniel

    2012-01-01

    Effect of Citrus floral extracts on the foraging behavior of the stingless bee Scaptotrigona pectoralis (Dalla Torre). Stingless bees have an important role as pollinators of many wild and cultivated plant species in tropical regions. Little is known, however, about the interaction between floral fragrances and the foraging behavior of meliponine species. Thus we investigated the chemical composition of the extracts of citric (lemon and orange) flowers and their effects on the foraging behavi...

  7. Génesis y autoría de La torre de los siete jorobados de Emilio Carrère

    Directory of Open Access Journals (Sweden)

    Labrador Ben, Julia M.

    2002-12-01

    Full Text Available In this paper the genesis of Emilio Carrère's novel, La torre de los siete jorobados is analyzed: its bakcground as a short novel, its authorship (with the participation of a second author, Jesús de Aragón, the inclusion in this participation of some texts from other works by Carrère, the dating of the novel's precedents and follows in the form of short novels, and the consecutive editions of both the novel and of the short ones. The origin of some additional texts and their later exploitation in a new novel, La calavera de Atahualpa, are also established. A detailed study of the second novel completes the paper with an overview of the literary work of Jesús de Aragón. A brief analysis on the filmic adaptation of the novel is finally provided.Se analiza en el presente artículo la génesis de la novela de Emilio Carrère La torre de los siete jorobados: sus antecedentes como novela corta, su autoría, en la que se valora la participación de un segundo autor (Jesús de Aragón, la inclusión en dicha participación de textos de otras obras de Carrère, la datación de los antecedentes y consecuentes de dicha novela en forma de relatos cortos y de las sucesivas ediciones tanto de La torre de los siete jorobados como de dichas novelas cortas. Se establece también el origen de algunos textos adicionales y su posterior utilización en una segunda novela: La calavera de Atahualpa. El artículo se completa con un estudio detallado de la novela, un repaso somero de la obra literaria de Jesús de Aragón, y un breve análisis de la adaptación cinematográfica.

  8. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

    Science.gov (United States)

    Falah, Nadia; Posey, Jennifer E; Thorson, Willa; Benke, Paul; Tekin, Mustafa; Tarshish, Brocha; Lupski, James R; Harel, Tamar

    2017-04-01

    Diagnosis of genetic syndromes may be difficult when specific components of a disorder manifest at a later age. We present a follow up of a previous report [Seeherunvong et al., (2004); AJMGA 127: 149-151], of an individual with 22q duplication and sex-reversal syndrome. The subject's phenotype evolved to include peripheral and central demyelination, Waardenburg syndrome type IV, and Hirschsprung disease (PCWH; MIM 609136). DNA microarray analysis defined the duplication at 22q11.2q13, including SOX10. Sequencing of the coding region of SOX10 did not reveal any mutations. Our data suggest that SOX10 duplication can cause disorders of sex development and PCWH, supporting the hypothesis that SOX10 toxic gain of function rather than dominant negative activity underlies PCWH. © 2017 Wiley Periodicals, Inc.

  9. Preventive conservation and management: contribution to a new integrated model, based on the case study of National Archive Torre do Tombo, Portugal

    Directory of Open Access Journals (Sweden)

    Luís Filipe Raposo Pereira

    2016-01-01

    Full Text Available The development of a management model, in the preventive conservation area in the National Archive Torre do Tombo, included the identification of the specificities related to assessment and risk management methodology in Archives area/field and the definition of concepts and processes connected to management in that context. The present paper will focus on those contributions, particularly in the changes resulting by a new perspective in terms of management, based in the methodology defined by the AS/NZS 4360 standard. It also represents the end of the characterization of a process with two sequential phases, corresponding to the periods 2006-2007 and 2009-2013, which intention was to reinforce management assumptions in the preventive conservation field.

  10. Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

    Science.gov (United States)

    Ebermann, Inga; Wilke, Robert; Lauhoff, Thomas; Lübben, Dirk; Zrenner, Eberhart; Bolz, Hanno Jörn

    2007-08-30

    To identify the genetic defect in a German family with Usher syndrome (USH) and linkage to the USH3A locus. DNA samples of five family members (both parents and the three patients) were genotyped with polymorphic microsatellite markers specific for eight USH genes. Three affected family members underwent detailed ocular and audiologic characterization. Symptoms in the patients were compatible with Usher syndrome and show intrafamilial variation, for both hearing loss (ranging from severe to profound with non-linear progression) and vision. Genotyping of microsatellite markers for the different USH loci was in line with a defect in the USH3A gene on chromosome 3q25. Sequence analysis of the USH3A gene revealed two truncating mutations; c.149_152delCAGGinsTGTCCAAT, which has been described previously, and a novel mutation, c.502_503insA, segregating with the phenotype. To date, only 11 USH3A mutations have been described. This is the first description of a German family with USH due to USH3A mutations, including one novel. Our findings indicate that also in the Central European population, USH3A mutations should be considered in cases of USH.

  11. Doctor Ramón Luis Miranda Torres, su relación con las neurociencias

    OpenAIRE

    Hodelín Tablada,Ricardo

    2005-01-01

    Objetivo: en el presente trabajo se reseña la relación del doctor Ramón Luis Miranda con las neurociencias, dirigido a destacar su inclinación por estas disciplinas. Desarrollo: conocido en la historiografía médica como el médico de José Martí el apóstol cubano el doctor Ramón Luis Miranda Torres, se destacó en otros aspectos poco divulgados, por lo que opinamos que no se le ha otorgado su verdadera dimensión. Nacido en la ciudad de Matanzas, Cuba, estudió medicina en Francia y desde sus años...

  12. High mountain soils and periglacial features at the Torres del Paine, National Park Torres del Paine, Chile.

    Science.gov (United States)

    Senra, Eduardo; Schaefer, Carlos; Simas, Felipe; Gjorup, Davi

    2015-04-01

    The Torres del Paine National Park (TPNP) is located on the southern limit of the Andean Southern Ice Field, part of the Magallanes and Antartica Chilena region, in the province of Ultima Esperanza. The TPNP has a very heterogeneous climate due to orographic influence and wet air masses from the Pacific. The geology is basically Cretaceous metasedimentary rocks and Miocene granitic plutons and batholiths. We studied the main soils and geoenvironments of Mt Ferrier mountain and its surroundings, based on soils , landforms and vegetation aspects. The geoenvironmental stratification was based on the combined variation and integration of pedo-litho-geomorphological features with the vegetation. WE used detailed geological maps, a DEM and slope maps and WorlView II satellite images. Fifteen soils profiles were sampled and classified according to Soil Taxonomy (2010) at all genovironments, ranging from 50 m a.s.l to the at high plateau just below the permanent snowline, under periglacial conditions (~1004m asl). Three soil temperature and moisture monitoring sites were set, allowing for 24 consecutive months (2011 to 2013). Seven geoenvironments were identified with distinct soil and landform characteristics, all with a similar geological substrate. The landform and vegetation have a strong connection with the landscape dynamic, controlling erosional and depositional processes, resulting from glacier advances and retreats in the Late Quaternary. Wind blown materials is widespread, in the form of loess material, accumulating in the higher parts of the landscape. On the other hand, accumulation of organic matter in the water-saturated depressions is common in all altitudes. Generally the soils are acidic and dystrophic, with little exceptions. The following geoenvironments were identified: Periglacial Tundra, Loess slopes, Talus and scarpmentd, Fluvio-glacial terraces, Fluvio-lacustrine plains, Moraines and Paleodunes. The regional pedology show the occurrence of five soil

  13. Inmueble-torre ''Los horizontes'' Rennes – Francia

    Directory of Open Access Journals (Sweden)

    Maillols, Georges

    1975-09-01

    Full Text Available This building constitutes a part of the renovation operation in the «Distrito del Obispo», in the street of «Brest» at Rennes. The complex contains: 2,000 apartments, parking places for approximately 600 cars, shopping centre, social centre, schools, hotel restaurant, etc. The two towers that are being described specially in the article comprise: two basements, two mezzanine floors, thirty floors for housing and offices and two technical storeys; with a separate circular garage, surface parking place and a separate building for meetings. Foundation on piles of 1.50 diameter anchored in the bare rock: structure of reinforced concrete and prefabricated facades, with additional installations of all kinds to assure comfort and perfect functioning.Este edificio forma parte de la operación de renovar el «Distrito del Obispo» de la calle de Brest a Rennes. El conjunto comprende: 2.000 apartamentos, oficinas, aparcamientos para unos 600 automóviles, zona comercial, centro social, escuelas, hotel restaurante, etc. Las dos torres, que se describen especialmente en el artículo, tienen: dos sótanos, planta baja, dos entreplantas, treinta plantas para viviendas y oficinas, y dos plantas técnicas; con garaje circular separado, aparcamiento en superficie y edificio exento para reuniones. Cimentación a base de pilotes de 1,50 de diámetro, anclados en la roca sana; estructura de hormigón armado y fachadas prefabricadas, con toda suerte de instalaciones complementarias para asegurar el confort y el perfecto funcionamiento debidos.

  14. Una investigación fílmica en un laberinto literario: ‘El crimen de Oribe’ de Leopoldo Torre Nilsson (1950

    Directory of Open Access Journals (Sweden)

    Matthias Hausmann

    2016-08-01

    Full Text Available Comentando ciertas adaptaciones cinematográficas de obras literarias de Adolfo Bioy Casares el crítico de cine Sergio Wolf escribe: „[L]a narrativa del autor es en sí ‚una trampa para cineastas‘ aunque prometa ser ‚una trama para cineastas‘.“ Leopoldo Torre Nilsson no sólo rodó La mano en la trampa, sino fue también el primero en meter la mano en esa trampa que constituyen las narraciones de Bioy, porque su primer propio largometraje, El crimen de Oribe, basado en el cuento “El perjurio de la nieve”, es la primera transposición fílmica de una obra de su compatriota.En ese cuento Bioy construye un laberinto de declaraciones contradictorias sobre la misteriosa muerte de una joven muchacha, las cuales fuerzan al lector a hacer su propia investigación – una investigación que el autor quiere explícitamente literaria, porque para indicar pistas al lector hace comentar a sus personajes los manuscritos escritos por otros, lo que significa un desafío para cada adaptación fílmica. Nuestro artículo intenta mostrar cómo Torre reacciona ante este desafío; especial atención se presta a su tratamiento del motivo principal de la investigación así que al rol de un cosmos cerrado, tan importante en toda la obra de Torre Nilsson como en la de Bioy, y en otro procedimiento apreciado por el director y el autor a la vez, la mise en abyme.

  15. Irritable bowel syndrome: diagnostic approaches in clinical practice

    Directory of Open Access Journals (Sweden)

    Eugene J Burbige

    2010-09-01

    Full Text Available Eugene J BurbigeDivision of Gastroenterology, Gastrointestinal and Liver Research, John Muir Medical Center, Concord, CA, USABackground: Irritable bowel syndrome (IBS, a functional gastrointestinal disorder long considered a diagnosis of exclusion, has chronic symptoms that vary over time and overlap with those of non-IBS disorders. Traditional symptom-based criteria effectively identify IBS patients but are not easily applied in clinical practice, leaving >40% of patients to experience symptoms up to 5 years before diagnosis.Objective: To review the diagnostic evaluation of patients with suspected IBS, strengths and weaknesses of current methodologies, and newer diagnostic tools that can augment current symptom-based criteria.Methods: The peer-reviewed literature (PubMed was searched for primary reports and reviews using the limiters of date (1999–2009 and English language and the search terms irritable bowel syndrome, diagnosis, gastrointestinal disease, symptom-based criteria, outcome, serology, and fecal markers. Abstracts from Digestive Disease Week 2008–2009 and reference lists of identified articles were reviewed.Results: A disconnect is apparent between practice guidelines and clinical practice. The American Gastroenterological Association and American College of Gastroenterology recommend diagnosing IBS in patients without alarm features of organic disease using symptom-based criteria (eg, Rome. However, physicians report confidence in a symptom-based diagnosis without further testing only up to 42% of the time; many order laboratory tests and perform sigmoidoscopies or colonoscopies despite good evidence showing no utility for this work-up in uncomplicated cases. In the absence of diagnostic criteria easily usable in a busy practice, newer diagnostic methods, such as stool-form examination, fecal inflammatory markers, and serum biomarkers, have been proposed as adjunctive tools to aid in an IBS diagnosis by increasing physicians

  16. Duodenal atresia in 17q12 microdeletion including HNF1B: a new associated malformation in this syndrome.

    Science.gov (United States)

    Quintero-Rivera, Fabiola; Woo, Jennifer S; Bomberg, Eric M; Wallace, W Dean; Peredo, Jane; Dipple, Katrina M

    2014-12-01

    Deletions of chromosome 17q12 [OMIM 614527] encompass a wide range of phenotypes, including renal cysts, diabetes mellitus, pancreatic structural abnormalities, genital tract anomalies, developmental delay, learning difficulties, and more recently, autism spectrum disorder and schizophrenia. To date, gastrointestinal malformations have not been fully characterized in this syndrome. In this case report, we describe a four-year-old girl with a 17q12 microdeletion who was born with duodenal atresia, bilateral renal cysts, left kidney dysplasia, a midline cystic structure at the conus medullaris, and dysmorphic features. Both the patient and her affected father were found to have a deletion of 17q12, which encompasses the HNF1B (hepatocyte nuclear factor beta). It is hypothesized that HNF1B may play a role in intestinal differentiation and development. Our clinical report further expands the pre-and post-natal presentation of this rare microdeletion syndrome. © 2014 Wiley Periodicals, Inc.

  17. Diseño y cálculo de la torre y la cimentación de un aerogenerador

    OpenAIRE

    Núñez Ayala, Iñaki

    2015-01-01

    El objeto del estudio consiste en el diseño y el cálculo de la torre y de la cimentación de un aerogenerador. El aerogenerador formará parte de un parque eólico que constará de 9 aerogeneradores ubicado en la zona de pico Bedures y Pico El peñón, en el municipio de Vegadeo, perteneciente a la comunidad autónoma de Asturias.

  18. Polycystic ovary syndrome and metabolic syndrome.

    Science.gov (United States)

    Ali, Aus Tariq

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous disorder, where the main clinical features include menstrual irregularities, sub-fertility, hyperandrogenism, and hirsutism. The prevalence of PCOS depends on ethnicity, environmental and genetic factors, as well as the criteria used to define it. On the other hand, metabolic syndrome is a constellation of metabolic disorders which include mainly abdominal obesity, insulin resistance, impaired glucose metabolism, hypertension and dyslipidaemia. These associated disorders directly increase the risk of Type 2 diabetes mellitus (DMT2), coronary heart disease (CHD), cardiovascular diseases (CVD) and endometrial cancer. Many patients with PCOS have features of metabolic syndrome such as visceral obesity, hyperinsulinaemia and insulin resistance. These place patients with PCOS under high risk of developing cardiovascular disease (CVD), Type 2 diabetes (DMT2) and gynecological cancer, in particular, endometrial cancer. Metabolic syndrome is also increased in infertile women with PCOS. The aim of this review is to provide clear and up to date information about PCOS and its relationship with metabolic syndrome, and the possible interaction between different metabolic disorders.

  19. Down Syndrome

    Science.gov (United States)

    ... Down syndrome increases as a woman gets older. Down syndrome cannot be cured. Early treatment programs can help improve skills. They may include ... occupational, and/or educational therapy. With support and treatment, many ... Down syndrome live happy, productive lives. NIH: National Institute of ...

  20. Australian Aboriginal and Torres Strait Islander-focused primary healthcare social and emotional wellbeing research: a systematic review protocol.

    Science.gov (United States)

    Farnbach, Sara; Eades, Anne-Marie; Hackett, Maree Lisa

    2015-12-30

    Research with a focus on Aboriginal and Torres Strait Islander Australian's (hereafter referred to as Indigenous(1)) needs is crucial to ensure culturally appropriate evidence-based strategies are developed to improve health. However, concerns surrounding this research exist, arising from some previous research lacking community consultation, resulting in little community benefit or infringing on important cultural values. Values and Ethics: Guidelines for Ethical conduct in Aboriginal and Torres Strait Islander Health Research (hereafter referred to as Values and Ethics), developed by The National Health and Medical Research Council of Australia in 2003, is the ethical standard for Indigenous-focused health research. Researchers must address its Values in research design and conduct. However, its impact on research processes is unclear. Local Protocols should also be considered. This review aims to systematically examine practices related to Values and Ethics, Local Protocols and the processes of conducting Indigenous-focused primary healthcare research in collaboration with external researchers. The following electronic databases and grey literature will be searched (2003 to current): MEDLINE, EMBASE, CINAHL, Informit and HealthInfoNet--an Indigenous-specific research and program website. Indigenous-focused research will be included. Research must be conducted in one or more primary healthcare services, in collaboration with external researchers and with a focus on social and emotional well being. One reviewer will review titles and abstracts to remove obviously irrelevant research articles. Full-text research articles will be retrieved and independently examined by two reviewers. Data and quality assessment will be completed by one reviewer and verified by a second reviewer. Quality will be assessed using modified versions of established quality assessment tools. This review will provide information on research processes and the impact of Values and Ethics on

  1. Superior Mesenteric Artery Syndrome or Wilkie Syndrome

    International Nuclear Information System (INIS)

    Castano Llano, Rodrigo; Chams Anturi, Abraham; Arango Vargas, Paula

    2009-01-01

    We described three cases of superior mesenteric artery (SMA) syndrome, also known as Wilkie's syndrome, chronic duodenal ileus, or cast syndrome. This syndrome occurs when the third portion of the duodenum is compressed between the SMA and the aorta. The major risk factors for development of SMA syndrome are rapid weight loss and surgical correction of spinal deformities. The clinical presentation of SMA syndrome is variable and nonspecific, including nausea, vomiting, abdominal pain, and weight loss. The diagnosis is based on endoscopic, radiographic and tomographic findings of duodenal compression by the SMA. The treatment of SMA syndrome is aimed at the precipitating factor, which usually is related to weight loss. Therefore, conservative therapy with nutritional supplementation is the initial approach, and surgery is reserved for those who do not respond to nutritional therapy.

  2. Depletion of the vibrational ground state of CH4 in absorption spectroscopy at 3.4 μm in N2 and air in the 1-100 Torr range

    Science.gov (United States)

    Hausmaninger, Thomas; Zhao, Gang; Ma, Weiguang; Axner, Ove

    2018-01-01

    A model presented in an accompanying work predicts that mid-IR absorption signals from methane in trace concentrations in various buffer gases detected at pressures in the 1-100 Torr range can be reduced and distorted due to depletion of the vibrational ground state if the molecules are exposed to laser powers in the tens of mW range or above. This work provides experimental evidence of such depletion in a resonant cavity under a variety of conditions, e.g. for intracavity laser powers up to 2 W and for buffer gases of N2 or dry air, and verifies the applicability of the model. It was found that the degree of depletion is significantly larger in N2 than dry air, and that it increases with pressure for pressures up to around 10 Torr (attributed to a decreased diffusion rate) but decreases with pressure for pressures above 20 Torr (caused by an increased collisional vibrational decay rate). The maximum degree of depletion (∼80%) was obtained for methane in N2 at around 15 Torr. This implies that absorption spectrometry of methane can experience significant non-linear dependencies on laser power, pressure, as well as buffer gas composition. It is shown that depletion takes place also in 13CH4, which verifies the applicability of the model also for this isotopologue, and that NICE-OHMS signals detected in absorption phase are less affected by depletion than in dispersion. It was concluded that the absorption mode of detection can provide concentration assessments that are virtually free of influence of depletion for intracavity powers below 0.8 W.

  3. Dos políticas de instrumental científico: el Instituto del Material científico y el Torres Quevedo

    Directory of Open Access Journals (Sweden)

    Romero, Ana

    1998-08-01

    Full Text Available Not available.En este artículo se comparan las políticas públicas de adquisición, distribución y mantenimiento de material científico para centros docentes y de investigación, a través de dos instituciones: el Instituto del Material Científico (1911-1936 y el Instituto Torres Quevedo (1939-1965.

  4. An unusual association of headache, epilepsy, and late-onset Kleist’s pseudodepression syndrome in frontal lobe cavernoma of the cerebral left hemisphere

    Directory of Open Access Journals (Sweden)

    Chirchiglia D

    2017-05-01

    Full Text Available Domenico Chirchiglia,1 Attilio Della Torre,1 Domenico Murrone,2 Pasquale Chirchiglia,3 Rosa Marotta4 1Department of Neurosurgery, Neurophysiopathology Unit, University of Catanzaro “Magna Graecia”, Catanzaro, 2Neurosurgery Department, Di Venere Hospital, Bari, 3School of Medicine, University of Catanzaro, Catanzaro, 4Department of Medical and Surgical Sciences, University of Catanzaro, Catanzaro, Italy Abstract: Cerebral cavernous angioma or cavernoma is a benign vascular malformation, usually asymptomatic. It is infrequent and often its discovery is incidental, a so-called incidentaloma. However, these lesions can be symptomatic, causing headaches, epilepsy, cerebral hemorrhage and other neurological signs depending on the brain area involved. Frontal localization is responsible for psychiatric disorders, particularly the prefrontal region, leading to prefrontal syndrome, a condition common in all frontal lobe tumors. Psychopathological syndrome can be depression-type, pseudodepression syndrome or maniac-type, pseudomaniac syndrome. Surgical treatment of lesions like this may not always be possible due to their location in eloquent areas. In this study, we describe an unusual association of migraine-like headache, epilepsy and frontal lobe pseudodepression late-onset syndrome in the same patient. We have considered this case interesting mainly for the rarity of both a headache with migraine features and for the late onset of pseudodepression syndrome. Pathophysiology underlying migraine-like headache and that concerning the late-onset pseudodepression frontal lobe syndrome seems to be unclear. This case leads to further hypotheses about the mechanisms responsible for headache syndromes and psychopathological disorders, in the specific case when caused by a cerebral frontal lobe lesion. Keywords: cerebral cavernoma, cavernous angioma, headache, frontal syndrome, pseudodepression syndrome 

  5. Prevalence of HIV among Aboriginal and Torres Strait Islander Australians: a systematic review and meta-analysis.

    Science.gov (United States)

    Graham, Simon; O'Connor, Catherine C; Morgan, Stephen; Chamberlain, Catherine; Hocking, Jane

    2017-06-01

    Background Aboriginal and Torres Strait Islanders (Aboriginal) are Australia's first peoples. Between 2006 and 2015, HIV notifications increased among Aboriginal people; however, among non-Aboriginal people, notifications remained relatively stable. This systematic review and meta-analysis aims to examine the prevalence of HIV among Aboriginal people overall and by subgroups. In November 2015, a search of PubMed and Web of Science, grey literature and abstracts from conferences was conducted. A study was included if it reported the number of Aboriginal people tested and those who tested positive for HIV. The following variables were extracted: gender; Aboriginal status; population group (men who have sex with men, people who inject drugs, adults, youth in detention and pregnant females) and geographical location. An assessment of between study heterogeneity (I 2 test) and within study bias (selection, measurement and sample size) was also conducted. Seven studies were included; all were cross-sectional study designs. The overall sample size was 3772 and the prevalence of HIV was 0.1% (I 2 =38.3%, P=0.136). Five studies included convenient samples of people attending Australian Needle and Syringe Program Centres, clinics, hospitals and a youth detention centre, increasing the potential of selection bias. Four studies had a sample size, thus decreasing the ability to report pooled estimates. The prevalence of HIV among Aboriginal people in Australia is low. Community-based programs that include both prevention messages for those at risk of infection and culturally appropriate clinical management and support for Aboriginal people living with HIV are needed to prevent HIV increasing among Aboriginal people.

  6. Pouvoir et sexe : La favorita del Señor, roman de Ana Teresa Torres

    OpenAIRE

    Delprat, François

    2015-01-01

    La favorita del Señor (2001), roman de Ana Teresa Torres, se caractérise à la fois comme roman érotique et comme roman historique : la belle mauresque Aisa doit à une initiation précoce à l’art du sexe, dans son île natale méditerranéenne, d’accéder, devenue captive, à une exceptionnelle destinée en terre chrétienne. Éduquée par une esclave dans l’exultation des corps (danse érotique), elle est tour à tour bonne élève, adolescente passionnée, victime soumise et conquérante. La contradictoire ...

  7. The Outreach Process in the Technical University Luis Vargas Torres, Esmeraldas, Ecuador

    Directory of Open Access Journals (Sweden)

    Harold Oyarvide-Ramirez

    2016-06-01

    Full Text Available As part of the transformative process that takes place in the ecuadorian university is research that aims to improve the outreach model at the Technical University Luis Vargas Torres Esmeraldas developed. The need of jobs forces people to venture into small businesses, however, this process is done in an empirical way, without sufficient technical and administrative knowledge that will enable the company to manage efficiently and obtain funding sources. Hence the relevance of the study, which allows guide and train the business sector in order to conduct an efficient management and create new businesses that operate as a means for the transformation of the productive matrix. The research results are: the structure and function of outreach model, the key elements that support the creation of the Center for Business Development and Entrepreneurship Support and the socioeconomic impact achieved from the development of relations among universities, businesses and government.

  8. Dravets syndrom

    DEFF Research Database (Denmark)

    Hansen, Lars Kjaersgård; Rasmussen, Niels Henrik; Ousager, Lilian Bomme

    2010-01-01

    Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention...... to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations. Udgivelsesdato: 2010-Feb-22...

  9. Mineralogical, Geochemical and Isotopic Characterisation of the Travertine Formation Associated with the Alicun de las Torres Thermal System (Province of Granada): Palaeoclimatic and Palaeoenvironmental Implications.; Caracterizacion Mineralogica, Geoquimica e Isotopica de los Travertinos Asociados al Sistema Termal de Alicun de las Torres (Provincia de Granada): Implicaciones Paleoclimaticas y Paleoambientales

    Energy Technology Data Exchange (ETDEWEB)

    Prado, A. J.; Delgado, A.; Crespo, M. T.; Martin, A.; Perez del Villar, L.

    2010-12-24

    In the framework of a Singular Strategic Project entitled: Advanced Technologies of Carbon, Capture and Storage (CCS), supported by the MICINN (Spain) and the FEDER founds (EU), specifically in the Carbon Storage Task, a comprehensive study on the CO{sub 2} leakage as DIC (Dissolved Inorganic Carbon) in the Alicun de Las Torres (Prov. of Granada) natural analogue Thermal System was envisaged. This analogous system is characterised by the presence of a very important travertine formation. In order to explain the formation of these travertine mass a detailed mineralogical, petrographic, geochemical and isotopic, including stable and radioactive isotopes, characterisation has been carried out. Based on these data, paleoclimatic and palaeoenvironmental conditions under which this travertine formation was formed, during a period of approximately 230Ky, have also been deduced. (Author) 234 refs.

  10. What's in a Name?: Exploring the Implications of Eurocentric (Re)naming Practices of Aboriginal and Torres Strait Islander Nomenclature in Australian Education Practices

    Science.gov (United States)

    Weuffen, Sara; Cahir, Fred; Zeegers, Margaret

    2016-01-01

    The aim of this article is to provide teachers with knowledge of ways in which Eurocentric (re)naming practices inform contemporary pedagogical approaches, while providing understandings pertinent to the mandatory inclusion of the cross-curriculum priority area: "Aboriginal and Torres Strait Islander histories and cultures" (Australian…

  11. The ins and outs of 'up' and 'down': Disentangling the nine geocentric space systems of Torres and Banks languages

    OpenAIRE

    François, Alexandre

    2015-01-01

    International audience; The 17 languages spoken in the Torres and Banks Islands of northern Vanuatu commonly encode spatial relations by means of geocentric (absolute) systems of directionals. These systems all have in common a single cardinal axis oriented northwest–southeast, and at least a second topographical axis, contrasting inland–seawards. While this general profile is typical of Oceanic, a detailed comparison of the 17 languages reveals their internal diversity, with as many as nine ...

  12. HIF transport issues for P>10-3 Torr and Z>1

    International Nuclear Information System (INIS)

    Olson, C.L.

    1986-01-01

    Final transport schemes for HIF are examined, with emphasis on transport for p>10 -3 Torr and Z>1 since this should simplify the reactor design and reduce the length of the accelerator. Specifically the question of charge neutralization is addressed. We find (1) the fractional neutralization f needed scales as f/sub i/ = (1-Z -2 ) which means f/sub i/>0.89 is needed for Z>3; (2) axially-trapped electrons limit the net beam potential to ephi/sub min/ = α(1/2 m/sub e/v/sub i/ 2 ) with 1≤αapprox. <4; (3) radially-expelled plasma ions increase f/sub i/ especially near the pellet; (4) radially-oscillating plasma electrons have and adiabatic limit of f/sub i/≅0.5; and (5) as f/sub i/ approaches unity, plasma particle trajectories may involve drift motions along and radially away from the ion beam. Also, criteria are given for the maximum Z/A allowed for transporting very large currents. For the HIF parameters used, it appears that neutralization will probably be adequte for Zapprox. <3

  13. Sjogren-Larsson Syndrome

    Science.gov (United States)

    ... Or In Memory Of Obituaries Contact Us Donate Sjogren-Larsson Syndrome What causes SLS? SLS is caused by mutations ... methods of diagnosing SLS. Other Clinical Names for Sjogren-Larsson Syndrome Other clinical names of Sjogren-Larsson Syndrome include: ...

  14. Drug treatment of metabolic syndrome.

    Science.gov (United States)

    Altabas, Velimir

    2013-08-01

    The metabolic syndrome is a constellation of risk factors for cardiovascular diseases including: abdominal obesity, a decreased ability to metabolize glucose (increased blood glucose levels and/or presence of insulin resistance), dyslipidemia, and hypertension. Patients who have developed this syndrome have been shown to be at an increased risk of developing cardiovascular disease and/or type 2 diabetes. Genetic factors and the environment both are important in the development of the metabolic syndrome, influencing all single components of this syndrome. The goals of therapy are to treat the underlying cause of the syndrome, to reduce morbidity, and to prevent complications, including premature death. Lifestyle modification is the preferred first-step treatment of the metabolic syndrome. There is no single effective drug treatment affecting all components of the syndrome equally known yet. However, each component of metabolic syndrome has independent goals to be achieved, so miscellaneous types of drugs are used in the treatment of this syndrome, including weight losing drugs, antidiabetics, antihypertensives, antilipemic and anticlothing drugs etc. This article provides a brief insight into contemporary drug treatment of components the metabolic syndrome.

  15. Abdominal vascular syndromes: characteristic imaging findings

    International Nuclear Information System (INIS)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D'Ippolito, Giuseppe

    2016-01-01

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  16. Abdominal vascular syndromes: characteristic imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Cardarelli-Leite, Leandro; Velloni, Fernanda Garozzo; Salvadori, Priscila Silveira; Lemos, Marcelo Delboni; D' Ippolito, Giuseppe, E-mail: leandrocleite@gmail.com [Universidade Federal de Sao Paulo (EPM/UNIFESP), Sao Paulo, SP (Brazil). Escola Paulista de Mediciana. Departmento de Diagnostico por Imagem

    2016-07-15

    Abdominal vascular syndromes are rare diseases. Although such syndromes vary widely in terms of symptoms and etiologies, certain imaging findings are characteristic. Depending on their etiology, they can be categorized as congenital - including blue rubber bleb nevus syndrome, Klippel-Trenaunay syndrome, and hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome) - compressive - including 'nutcracker' syndrome, median arcuate ligament syndrome, Cockett syndrome (also known as May-Thurner syndrome), and superior mesenteric artery syndrome. In this article, we aimed to illustrate imaging findings that are characteristic of these syndromes, through studies conducted at our institution, as well as to perform a brief review of the literature on this topic. (author)

  17. Ngoelmun Yawar, Our Journey: The Transition and The Challenges for Female Students Leaving Torres Strait Island Communities for Boarding Schools in Regional Queensland

    Science.gov (United States)

    Bobongie, Francis

    2017-01-01

    This paper explores the transitional experiences and challenges faced by girls from the Torres Strait Islands when they leave individual communities to attend boarding school in regional Queensland. The paper presents original ethnographic research using a narrative enquiry approach, capturing stories as narrated by a broad cohort of girls from…

  18. Dravet Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on all types of epilepsy, including Dravet syndrome. Study of the genetic defects responsible for Dravet syndrome and related ... Publications Definition Dravet ...

  19. Burning Mouth Syndrome and "Burning Mouth Syndrome".

    Science.gov (United States)

    Rifkind, Jacob Bernard

    2016-03-01

    Burning mouth syndrome is distressing to both the patient and practitioner unable to determine the cause of the patient's symptoms. Burning mouth syndrome is a diagnosis of exclusion, which is used only after nutritional deficiencies, mucosal disease, fungal infections, hormonal disturbances and contact stomatitis have been ruled out. This article will explore the many causes and treatment of patients who present with a chief complaint of "my mouth burns," including symptomatic treatment for those with burning mouth syndrome.

  20. New autosomal dominant syndrome reminiscent of Coffin-Siris syndrome and Brachymorphism-Onychodysplasia-Dysphalangism syndrome.

    Science.gov (United States)

    Elliott, A M; Teebi, A S

    2000-01-01

    We report a man and his two daughters (one stillborn) with an apparently unique constellation of anomalies including fifth finger/toe terminal phalanx and nail hypoplasia. The craniofacial manifestations include large boxy head, round face, hypertelorism with downslanting palpebral fissures and wide mouth. Other manifestations include brachydactyly, fifth finger clinodactyly and ventricular septal defect. Intelligence is normal. The resemblance to Coffin-Siris, Brachymorphism-Onychodysplasia-Dysphalangism and DOOR syndromes is discussed and we concluded that this family probably represents a new autosomal dominant syndrome.

  1. Metabolic syndrome in acute coronary syndrome

    International Nuclear Information System (INIS)

    Bhalli, M.A.; Aamir, M.; Mustafa, G.

    2011-01-01

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  2. Metabolic syndrome in acute coronary syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Bhalli, M A; Aamir, M; Mustafa, G [Combined Military Hospital, Abbottabad (Pakistan)

    2011-06-15

    Objective: To determine the frequency of metabolic syndrome in male patients presenting with acute coronary syndrome Study design: A Descriptive study Place and duration of study: Armed Forces Institute of Cardiology and National Institute of Heart Diseases, Rawalpindi, from October 2007 to September 2008 Patients and Methods: Male patients with acute coronary syndrome (ACS) were included. Patients having angioplasty (PCI), coronary artery bypass surgery in the past and other co-morbid diseases were excluded. All patients were assessed for the presence of five components of metabolic syndrome including hypertension, HDL-Cholesterol and triglycerides, glucose intolerance and abdominal obesity. Systolic, diastolic blood pressures, waist circumference (WC) and body mass index (BMI) were measured. ECG, cardiac enzymes, fasting glucose and lipid profile were also done. Results: A total of 135 male patients of ACS were studied with a mean age of 54.26 +- 11 years. Metabolic syndrome (MS) was present in 55 (40.7%) patients. MS with all five components was documented in 4 (7.27%) while MS with four and three components was seen in 23 (41.81%) and 28 (50.90%) patients respectively. Only 24 (43.63%) patients with MS had diabetes mellitus, remaining 31(56.36%) were non diabetic. Frequencies of diabetes, hypertension and family history of CAD were significantly higher (p<0.05) in patients with metabolic syndrome as compared to patients with normal metabolic status. Conclusion: Metabolic syndrome is fairly common and important risk factor in patients of IHD. Other risk factors like smoking, dyslipidemia, hypertension and diabetes were also frequently found. Public awareness to control the risk factors can reduce the prevalence of CAD in our country. (author)

  3. Conservation of documental collections: implementation of a risk management model in archives based on the case study of Portuguese National Archive Torre do Tombo

    Directory of Open Access Journals (Sweden)

    Luís Filipe Raposo Pereira

    2014-01-01

    Full Text Available The year of 2006 marked the beginning of an innovative project in the field of archives, related with the assessment and evaluation of environmental and biological risks in the Portuguese National Archive, Torre do Tombo. With a first phase in 2006-2007 related with the assessment of environmental and biological risks, in 2009 began the second phase seeking to establish an overall perspective of all risk involved in the deterioration of documentation. The management model defined for Portuguese National Archive, Torre do Tombo sets benchmarks for institutions with the responsibility in safeguarding archival heritage with historical and cultural value, reflecting the progresses since then, in the preventive conservation area – particularly the integration of risk assessment models in its analysis and decision processes. The articulation of management and conservation concepts, allowed the functional optimization of institutions and a sustained comprehension of the different levels involved in preservation, within an organization.

  4. Comparative validation of self-report measures of negative attitudes towards aboriginal australians and torres strait islanders

    DEFF Research Database (Denmark)

    Skinner, T. C.; Blick, J.; Dudgeon, P.

    2013-01-01

    Introduction:This study sought to determine the construct validity of two self-report measures of attitudes towards Aboriginal Australians and Torres Strait Islanders against an implicit measure of attitude.Method:Total of 102 volunteer participants completed the three measures in a randomized...... order.The explicit measures of prejudice towards Aboriginal Australians were the Modern Racism Scale (MRS) and the Attitudes Towards Indigenous Australians Scale (ATIAS). The implicit attitudes measure was an adaptation of the Implicit Association Test (IAT) and utilised simple drawn head...... correlated with the IAT,(r=.314;pattitudes towards Aboriginal Australians, only the MRS evidenced validity when compared with the use of an implicit attitude measure....

  5. Measuring psychological distress in older Aboriginal and Torres Strait Islanders Australians: a comparison of the K-10 and K-5.

    Science.gov (United States)

    McNamara, Bridgette J; Banks, Emily; Gubhaju, Lina; Williamson, Anna; Joshy, Grace; Raphael, Beverley; Eades, Sandra J

    2014-12-01

    To assess the cross-cultural validity of two Kessler psychological distress scales (K-10 and K-5) by examining their measurement properties among older Aboriginal and Torres Strait Islanders and comparing them to those in non-Aboriginal individuals from NSW Australia. Self-reported questionnaire data from the 45 and Up Study for 1,631 Aboriginal and 231,774 non-Aboriginal people were used to examine the factor structure, convergent validity, internal consistency and levels of missing data of K-10 and K-5. We found excellent agreement in classification of distress of Aboriginal participants by K-10 and K-5 (weighted kappa=0.87), high internal consistency (Cronbach's alpha K-10: 0.93, K-5: 0.88), and factor structures consistent with those for the total Australian population. Convergent validity was evidenced by a strong graded relationship between the level of distress and the odds of: problems with daily activities due to emotional problems; current treatment for depression or anxiety; and poor quality of life. K-10 and K-5 scales are promising tools for measuring psychological distress among Aboriginal and Torres Strait Islanders aged 45 and over in research and clinical settings. © 2014 Public Health Association of Australia.

  6. Clinical Immunology Review Series: an approach to the patient with recurrent orogenital ulceration, including Behçet's syndrome.

    LENUS (Irish Health Repository)

    Keogan, M T

    2009-04-01

    Patients presenting with recurrent orogenital ulcers may have complex aphthosis, Behçet\\'s disease, secondary complex aphthosis (e.g. Reiter\\'s syndrome, Crohn\\'s disease, cyclical neutropenia) or non-aphthous disease (including bullous disorders, erythema multiforme, erosive lichen planus). Behçet\\'s syndrome is a multi-system vasculitis of unknown aetiology for which there is no diagnostic test. Diagnosis is based on agreed clinical criteria that require recurrent oral ulcers and two of the following: recurrent genital ulcers, ocular inflammation, defined skin lesions and pathergy. The condition can present with a variety of symptoms, hence a high index of suspicion is necessary. The most common presentation is with recurrent mouth ulcers, often with genital ulcers; however, it may take some years before diagnostic criteria are met. All patients with idiopathic orogenital ulcers should be kept under review, with periodic focused assessment to detect evolution into Behçet\\'s disease. There is often a delay of several years between patients fulfilling diagnostic criteria and a diagnosis being made, which may contribute to the morbidity of this condition. Despite considerable research effort, the aetiology and pathogenesis of this condition remains enigmatic.

  7. Technical standards and guidelines: prenatal screening for Down syndrome that includes first-trimester biochemistry and/or ultrasound measurements.

    Science.gov (United States)

    Palomaki, Glenn E; Lee, Jo Ellen S; Canick, Jacob A; McDowell, Geraldine A; Donnenfeld, Alan E

    2009-09-01

    This statement is intended to augment the current general ACMG Standards and Guidelines for Clinical Genetics Laboratories and to address guidelines specific to first-trimester screening for Down syndrome. The aim is to provide the laboratory the necessary information to ensure accurate and reliable Down syndrome screening results given a screening protocol (e.g., combined first trimester and integrated testing). Information about various test combinations and their expected performance are provided, but other issues such as availability of reagents, patient interest in early test results, access to open neural tube defect screening, and availability of chorionic villus sampling are all contextual factors in deciding which screening protocol(s) will be selected by individual health care providers. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Act, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures. These guidelines address first-trimester screening that includes ultrasound measurement and interpretation of nuchal translucency thickness and protocols that combine markers from both the first and second trimesters. Laboratories can use their professional judgment to make modification or additions.

  8. La fauna de mamíferos del yacimiento de la Campa Torres (Gijón, Asturias, España

    Directory of Open Access Journals (Sweden)

    Corina LIESAU VON LETTOW-VORBECK

    2009-12-01

    Full Text Available RESUMEN: El análisis de los restos faunísticos del castro astur de La Campa Torres ha permitido aproximarnos a las estrategias paleoeconómicas de uno de los asentamientos asturianos fortificados más importantes de la Edad del Hierro. El vacuno supone el principal recurso ganadero de la ocupación prerromana complementada, marginalmente, con el ganado lanar, caprino y porcino. La escasa frecuencia de los restos de caballo y perro constatan un patrón habitual en la mayoría de los yacimientos protohistóricos, aunque el despiece exhaustivo de algunos canes no descarta el consumo de estos carnívoros. La actividad cinegética resulta ser testimonial como complemento a la dieta, representada tan sólo por el ciervo.ABSTRACT: The study of the faunal remains of Campa Torres has allowed to approximate us to the paleoeconomical patterns of one of the most important fortified Iron Age hillforts in Asturias. The cattle supposes the main stock during the prerroman occupation, complemented marginally with the sheep, goat and pig. The low frequency of the horse and dog bones states a habitual pattern as in most of the prehistoric sites, although the exhaustive disarticulation marks of dogs do not discard the consume of these carnivores. The hunting activities are evidenced only by some testimonial remains of red dear.

  9. Estudio de las torres de refrigeración asociadas a brotes comunitarios de legionelosis Study of refrigeration towers associated with community outbreaks of legionellosis

    Directory of Open Access Journals (Sweden)

    Albert Pérez Lleonart

    2007-08-01

    Full Text Available Objetivo: Evaluar los factores de riesgo de las torres de refrigeración asociadas a un brote comunitario de legionelosis según sus características de mantenimiento y la calidad del agua. Método: Comparar los datos recogidos entre los 4 tipos de torres de refrigeración: control 1, control 2, probable y confirmada. Se han estudiado un total de 184 torres de refrigeración asociadas a 17 brotes comunitarios de legionelosis de la provincia de Barcelona durante el año 2004, de las cuales 112 son control 1, 54 control 2, 8 probables y 10 confirmadas. Resultados: Las torres confirmadas se caracterizan por: niveles elevados de conductividad, aerobios totales, dureza cálcica, sólidos totales en disolución, temperatura y turbidez; concentraciones de cloro deficientes (Objetive: To evaluate the factors of risk of the risk cooling towers associated to a community outbreak of legionellosis according to its characteristics of maintenance and the quality of the water with the purpose of improving the systems of prevention of this one disease. Method: To compare the piece of information gathered between the 4 types of cooling towers: control 1, control 2, probable and confirmed. A total of 184 cooling towers have been studied associated to 17 community outbreak of legionellosis of the province of Barcelona (Spain during the year 2004, of which 112 are control 1, 54 control 2, 8 probable and 10 confirmed. Results: The confirmed towers are characterized by: high levels of conductivity, total aerobes, calcic hardness, total solids in dissolution, temperature and turbidity; low levels of chlorine (< 2 ppm; of use hypochlorite as disinfectant in a 10%; greater degree of breach of the revision program and cleaning of the internal elements of the tower (tray, stuffed and separating of drops; degree of performance of the periodic disinfections and the cleaning of deposits of the 100%. A 47% of the investigated towers do not use the previous treatments of the

  10. Obstructive sleep apnoea/hypopnoea syndrome in adults with Down syndrome

    OpenAIRE

    Hill, Elizabeth A.

    2016-01-01

    Key points Adults with Down syndrome are predisposed to obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to overlap between the Down syndrome phenotype and OSAHS risk factors. The prevalence of OSAHS in adults with Down syndrome is estimated at 35?42%. This is up to ten-times higher than in the general adult population. Symptoms of OSAHS, including behavioural and emotional disturbances as well as standard symptoms such as sleepiness, should be monitored as part of regular health surve...

  11. Recommendations on Chronic Constipation (Including Constipation Associated with Irritable Bowel Syndrome Treatment

    Directory of Open Access Journals (Sweden)

    Pierre Paré

    2007-01-01

    Full Text Available While chronic constipation (CC has a high prevalence in primary care, there are no existing treatment recommendations to guide health care professionals. To address this, a consensus group of 10 gastroenterologists was formed to develop treatment recommendations. Although constipation may occur as a result of organic disease, the present paper addresses only the management of primary CC or constipation associated with irritable bowel syndrome. The final consensus group was assembled and the recommendations were created following the exact process outlined by the Canadian Association of Gastroenterology for the following areas: epidemiology, quality of life and threshold for treatment; definitions and diagnostic criteria; lifestyle changes; bulking agents and stool softeners; osmotic agents; prokinetics; stimulant laxatives; suppositories; enemas; other drugs; biofeedback and behavioural approaches; surgery; and probiotics. A treatment algorithm was developed by the group for CC and constipation associated with irritable bowel syndrome. Where possible, an evidence-based approach and expert opinions were used to develop the statements in areas with insufficient evidence. The nature of the underlying pathophysiology for constipation is often unclear, and it can be tricky for physicians to decide on an appropriate treatment strategy for the individual patient. The myriad of treatment options available to Canadian physicians can be confusing; thus, the main aim of the recommendations and treatment algorithm is to optimize the approach in clinical care based on available evidence.

  12. Evolution of the Great Tehuelche Paleolake in the Torres del Paine National Park of Chilean Patagonia during the Last Glacial Maximum and Holocene Evolución del Gran Paleolago Tehuelche en el Parque Nacional Torres del Paine de la Patagonia chilena durante el Último Máximo Glacial y Holoceno

    Directory of Open Access Journals (Sweden)

    Marcelo A Solari

    2012-01-01

    Full Text Available A number of glacial moraines are distributed from the eastern margin of the Torres del Paine drainage basin to near the present margin of the Patagonian Ice Fields, together with a set of regionally continuous lacustrine terraces related to glacial fluctuations. The geomorphology, supported by lake sediment evidence, indicates the existence of a single proglacial paleolake in this area, here referred to as the Great Tehuelche Paleolake. This concept helps to clarify the chronology of glacial events and leads to a better understanding of the evolution of the hydrologic system in the Torres del Paine area. Glacial advances previously referred to as A, B and C occurred during the Last Glacial Maximum and fed the Great Tehuelche Paleolake with meltwater, allowing it to reach its maximum extension. The discovery of thrombolites at Laguna Amarga suggests that the drainage of the paleolake towards the Última Esperanza Fjord took place at 7,113 Cal. yr BP, after the melting of an ice barrier that existed during the earlier glacial advance. This gave rise to the development of a complex fluvio-lacustrine hydrologic system that persists to the present day.Un grupo de morrenas glaciales están distribuidas desde el margen este de la cuenca de drenaje de Torres del Paine hacia el margen actual de los Campos de Hielo Patagónicos. Las morrenas se observan en conjunto con un grupo de terrazas lacustres regionales, las cuales están vinculadas a las fluctuaciones glaciales. La geomorfología y evidencias de sedimentos lacustres indican la existencia de un único lago proglacial, referido en este estudio como Gran Paleolago Tehuelche. Este concepto ayuda a clarificar la cronología de los eventos glaciales y permite una mejor comprensión de la evolución del sistema hidrológico del sector de Torres del Paine. Los eventos glaciales, previamente referidos como Avance A, B y C, ocurrieron durante el Último Máximo Glacial y alimentaron con aguas de fusión al

  13. Spectrum of Features in Pterygium Syndrome

    Directory of Open Access Journals (Sweden)

    Sanjay Y. Parashar

    2006-04-01

    Full Text Available Pterygium syndrome is a complex and rare congenital deformity that consists of contractures involving multiple flexural surfaces and associated craniofacial anomalies. It often has associated conditions, including anomalies of the cardiovascular, respiratory, gastrointestinal and genitourinary systems. It may present in different forms, including multiple pterygium syndrome of Escobar, lethal multiple pterygium syndrome, popliteal pterygium syndrome, lethal popliteal syndrome (Bartsocas-Papas syndrome and arthrogryposis multiplex congenita. The clinical presentation, multidisciplinary management and the long-term outcome in three patients with this condition are presented.

  14. Clarice Della Torre Ferrarini: o depoimento de uma pioneira da administração em enfermagem no Brasil Clarice Della Torre Ferrarini: the testimony of a pioneer in nursing management in Brazil

    Directory of Open Access Journals (Sweden)

    Maria Cristina Sanna

    2003-12-01

    Full Text Available O presente depoimento, construído a partir de entrevistas realizadas nos anos de 1996 e 1997 com a enfermeira Clarice Della Torre Ferrarini, por ocasião da coleta de dados para a tese de doutoramento intitulada História de Enfermeiras gerentes: subsídios para a compreensão de um modelo-referência de organização de serviços de enfermagem no período de 1950 a 1980, é apresentado após ter sido submetido aos processos de transcrição, validação e autorização. O processo é descrito e exemplificado, e o produto apresentado evidencia a trajetória da entrevistada, desde a escolha da profissão até o desempenho de vários papéis profissionais de liderança no cenário da administração em enfermagem, em cinqüenta anos de vida profissional vinculada a instituições como o Hospital das Clínicas de São Paulo, o Ministério da Saúde e a Associação Brasileira de Enfermagem, entre outras.This testimony is drawn from interviews conducted with the nurse Clarice Della Torre Ferrarini in 1996 and 1997 as part of data collection for the doctoral dissertation entitled History of nurse managers: subsidies for an understanding of a reference model on the organization of nursing services from 1950 through 1980 (História de Enfermeiras gerentes: subsídios para a compreensão de um modelo-referência de organização de serviços de enfermagem no período de 1950 a 1980. The article describes and exemplifies the process of transcription, validation, and authorization to which these interviews were submitted. The product reveals the interviewee's trajectory from the time she chose her profession through her performance of a series of leadership roles within the realm of nursing management, covering a career of fifty years at institutions such as São Paulo's Hospital das Clínicas, the Brazilian Ministry of Health, and the Brazilian Nursing Association, among others.

  15. The Gulf of Carpentaria heated Torres Strait and the Northern Great Barrier Reef during the 2016 mass coral bleaching event

    Science.gov (United States)

    Wolanski, E.; Andutta, F.; Deleersnijder, E.; Li, Y.; Thomas, C. J.

    2017-07-01

    The 2015/16 ENSO event increased the temperature of waters surrounding northeast Australia to above 30 °C, with large patches of water reaching 32 °C, for over two months, which led to severe bleaching of corals of the Northern Great Barrier Reef (NGBR). This study provides evidence gained from remote-sensing data, oceanographic data and oceanographic modeling, that three factors caused this excessive heating, namely: 1) the shutdown of the North Queensland Coastal Current, which would otherwise have flushed and cooled the Northern Coral Sea and the NGBR through tidal mixing 2) the advection of warm (>30 °C) water from the Gulf of Carpentaria eastward through Torres Strait and then southward over the NGBR continental shelf, and 3) presumably local solar heating. The eastward flux of this warm water through Torres Strait was driven by a mean sea level difference on either side of the strait that in turn was controlled by the wind, which also generated the southward advection of this warm water onto the NGBR shelf. On the NGBR shelf, the residence time of this warm water was longer inshore than offshore, and this may explain the observed cross-shelf gradient of coral bleaching intensity. The fate of the Great Barrier Reef is thus controlled by the oceanography of surrounding seas.

  16. Resting heart rate, physiological stress and disadvantage in Aboriginal and Torres Strait Islander Australians: analysis from a cross-sectional study.

    Science.gov (United States)

    Zhang, Alice; Hughes, Jaquelyne T; Brown, Alex; Lawton, Paul D; Cass, Alan; Hoy, Wendy; O'Dea, Kerin; Maple-Brown, Louise J

    2016-02-11

    Lower socioeconomic status has been linked to long-term stress, which can manifest in individuals as physiological stress. The aim was to explore the relationship between low socioeconomic status and physiological stress in Aboriginal and Torres Strait Islander Australians. Using data from the eGFR Study (a cross-sectional study of 634 Indigenous Australians in urban and remote areas of northern and central Australia), we examined associations between resting heart rate and demographic, socioeconomic, and biomedical factors. An elevated resting heart rate has been proposed as a measure of sustained stress activation and was used as a marker of physiological stress. Relationships were assessed between heart rate and the above variables using univariate and multiple regression analyses. We reported a mean resting heart rate of 74 beats/min in the cohort (mean age 45 years). On multiple regression analysis, higher heart rate was found to be independently associated with Aboriginal ethnicity, being a current smoker, having only primary level schooling, higher HbA1c and higher diastolic blood pressure (model R(2) 0.25). Elevated resting heart rate was associated with lower socioeconomic status and poorer health profile in Aboriginal and Torres Strait Islander Australians. Higher resting heart rate may be an indicator of stress and disadvantage in this population at high risk of chronic diseases.

  17. El análisis estratigráfico constructivo como documentación de la materialidad y guía para su conservación en el proyecto de restauración: las Torres de Serranos de Valencia y la Torre del Homenaje del Castillo de Cofrentes (Valencia

    Directory of Open Access Journals (Sweden)

    Mileto, Camilla

    2003-12-01

    Full Text Available This text presents two cases where the application of stratigraphic wall analysis represented, in addition to the possibility of constructing a hypothesis of construction phases, the tool used for the study of the materiality of the monument (materials, construction techniques, etc. and a guideline for carrying out a more materiality-conscious restoration project and work. In the first case, the study of the Torres de Serranos, which are constructed entirely of stonework, the interpretation of material data meant a combination of the stratigraphic analysis method with chronotypological criteria. In the second case, a tower of the Homenaje del Castillo de Confrentes, in addition to stratigraphic wall analysis the restoration project was also carried out. On this particular occasion it was possible to reflect on the conservation of stratigraphic data as fundamental elements in the conservation of the building’s materiality.En el texto se presentan dos casos donde la aplicación del análisis estratigráfico constructivo representó, además de la posibilidad de realizar una hipótesis de fases constructivas, la herramienta utilizada para el estudio de la materialidad del monumento (materiales, técnicas constructivas, etc. y la guía para la realización de un proyecto de restauración y una obra más consciente de la materialidad misma. En el primer caso, el estudio de las Torres de Serranos, enteramente construidas en fábrica de sillería, la interpretación de los datos materiales implicó la combinación del método del análisis estratigráfico con criterios cronotipológicos. En el segundo caso, en la torre del Homenaje del Castillo de Cofrentes, además del análisis estratigráfico constructivo se realizó el proyecto de restauración. En esa ocasión se tuvo por tanto la posibilidad de reflexionar sobre la conservación de los datos estratigráficos como elementos fundamentales de la conservación de la materialidad del edificio.

  18. Numerical simulations of highly buoyant flows in the Castel Giorgio - Torre Alfina deep geothermal reservoir

    Science.gov (United States)

    Volpi, Giorgio; Crosta, Giovanni B.; Colucci, Francesca; Fischer, Thomas; Magri, Fabien

    2017-04-01

    Geothermal heat is a viable source of energy and its environmental impact in terms of CO2 emissions is significantly lower than conventional fossil fuels. However, nowadays its utilization is inconsistent with the enormous amount of energy available underneath the surface of the earth. This is mainly due to the uncertainties associated with it, as for example the lack of appropriate computational tools, necessary to perform effective analyses. The aim of the present study is to build an accurate 3D numerical model, to simulate the exploitation process of the deep geothermal reservoir of Castel Giorgio - Torre Alfina (central Italy), and to compare results and performances of parallel simulations performed with TOUGH2 (Pruess et al. 1999), FEFLOW (Diersch 2014) and the open source software OpenGeoSys (Kolditz et al. 2012). Detailed geological, structural and hydrogeological data, available for the selected area since early 70s, show that Castel Giorgio - Torre Alfina is a potential geothermal reservoir with high thermal characteristics (120 ° C - 150 ° C) and fluids such as pressurized water and gas, mainly CO2, hosted in a carbonate formation. Our two steps simulations firstly recreate the undisturbed natural state of the considered system and then perform the predictive analysis of the industrial exploitation process. The three adopted software showed a strong numerical simulations accuracy, which has been verified by comparing the simulated and measured temperature and pressure values of the geothermal wells in the area. The results of our simulations have demonstrated the sustainability of the investigated geothermal field for the development of a 5 MW pilot plant with total fluids reinjection in the same original formation. From the thermal point of view, a very efficient buoyant circulation inside the geothermal system has been observed, thus allowing the reservoir to support the hypothesis of a 50 years production time with a flow rate of 1050 t

  19. Abdominal compartment syndrome with acute reperfusion syndrome

    International Nuclear Information System (INIS)

    Maleeva, A.

    2017-01-01

    Abdominal compartment syndrome was recognized clinically in the 19th century when Marey and Burt observed its association with declines in respiratory function. Abdominal compartment syndrome is first used as a medical terminology from Fietsman in a case of ruptured abdominal aortic aneurysm. A condition caused by abnormally increased pressure within the abdomen. Causes of abdominal compartment syndrome include trauma, surgery, or infection. Common symptoms: abdominal distension, fast heart rate, insufficient urine production, or low blood pressure Medical procedure: nasogastric intubation Surgery: laparotomy Specialists: radiologist, primary care provider (PCP), surgeon, and emergency medicine doctor [6, 10]. Keywords: Stomach. Gastroparesis . Diabetes Mellitus [bg

  20. Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome).

    Science.gov (United States)

    Bresler, Scott C; Padwa, Bonnie L; Granter, Scott R

    2016-06-01

    Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation. As sporadic basal cell carcinomas also commonly harbor hedgehog pathway aberrations, therapeutic agents targeting key signaling constituents have been developed and tested against advanced sporadically occurring tumors or syndromic disease, leading in 2013 to FDA approval of the first hedgehog pathway-targeted small molecule, vismodegib. The elucidation of the molecular pathogenesis of nevoid basal cell carcinoma syndrome has resulted in further understanding of the most common human malignancy.

  1. Leonardo Torres Quevedo: el patrimonio histórico, científico, tecnológico y educativo … y las funciones de la universidad. // Leonardo Torres Quevedo: historical, scientific, technological and educational heritage … and the functions of university

    Directory of Open Access Journals (Sweden)

    Francisco A. González Redondo

    2017-05-01

    Full Text Available (ES Con ocasión de la conmemoración del centenario del Transbordador del Niágara, a lo largo de 2016 se ha llevado a cabo un denso programa de actividades, promovido desde la asociación cultural Amigos de la Cultura Científica, que han dado contenido al “Año Torres Quevedo 2016”. Ha sido una experiencia singular, en el ámbito del patrimonio histórico, científico, tecnológico y educativo, en la que se han plasmado las cuatro funciones de la universidad al servicio de la Sociedad que establece la ley, pues no sólo se han puesto a disposición de los ciudadanos y de la comunidad educativa numerosas exposiciones, conferencias, artículos, programas de radio y televisión, etc., sino que se han sembrado las semillas para que desde colegios, institutos y centros universitarios se continúe estudiando y difundiendo la vida y la obra de “el más prodigioso inventor de su tiempo”. // (EN Taking as motivation the commemoration of the centenary of the Niagara Spanish Aerocar, along 2016 the association of Friends of Scientific Culture has promoted a solid programme of activities which have given content to “The Year Torres Quevedo 2016”. This has been a remarkable experience for our heritage, in all its historical, scientific, technological and educational fields, along which the four functions of university at the service of Society, as determined by law, have been accomplished, as not only citizens and the educational community have benefited from a great number of Lectures, Exhibitions, Articles, TV and Radio programs, etc., but the seeds have been sown for schools, colleges and University faculties and departments to continue studying and disseminating the life and work of “the most prodigious inventor of his time”.

  2. Polycystic Ovary Syndrome FAQ

    Science.gov (United States)

    ... Ovary Syndrome (PCOS) • What are common signs and symptoms of polycystic ovary syndrome (PCOS)? • What causes PCOS? • What is insulin resistance? • ... with PCOS? •Glossary What are common signs and symptoms of polycystic ovary syndrome (PCOS)? Common PCOS signs and symptoms include the ...

  3. Severe acute respiratory syndrome (SARS)

    Science.gov (United States)

    SARS; Respiratory failure - SARS ... Complications may include: Respiratory failure Liver failure Heart failure ... 366. McIntosh K, Perlman S. Coronaviruses, including severe acute respiratory syndrome (SARS) and Middle East respiratory syndrome (MERS). ...

  4. Mobius syndrome: MRI features

    International Nuclear Information System (INIS)

    Markarian, Maria F.; Villarroel, Gonzalo M.; Nagel, Jorge R.

    2003-01-01

    Purpose: Mobius Syndrome or congenital facial diplegia is associated with paralysis of the lateral gaze movements. This syndrome may include other cranial nerve palsies and be associated to musculoskeletal anomalies. Our objective is to show the MRI findings in Mobius Syndrome. Material and methods: MRI study was performed in 3 patients with clinic diagnosis of Mobius Syndrome. RMI (1.5T); exams included axial FSE (T1 and T2), FLAIR, SE/EPI, GRE/20, sagittal FSE T2 , coronal T1, diffusion, angio MRI and Spectroscopy sequences. Results: The common features of this syndrome found in MRI were: depression or straightening of the floor of the fourth ventricle, brainstem anteroposterior diameter diminution, morphologic alteration of the pons and medulla oblongata and of the hypoglossal nuclei as well as severe micrognathia. Conclusion: The morphologic alterations of Mobius Syndrome can be clearly identified by MRI; this method has proved to be a useful diagnostic examination. (author)

  5. Keith Haring, Felix Gonzalez-Torres, Wolfgang Tillmans, and the AIDS Epidemic: The Use of Visual Art in a Health Humanities Course.

    Science.gov (United States)

    Smith, Jason A

    2018-02-23

    Contemporary art can be a powerful pedagogical tool in the health humanities. Students in an undergraduate course in the health humanities explore the subjective experience of illness and develop their empathy by studying three artists in the context of the AIDS epidemic: Keith Haring, Felix Gonzalez-Torres, and Wolfgang Tillmans. Using assignments based in narrative pedagogy, students expand their empathic response to pain and suffering. The role of visual art in health humanities pedagogy is discussed.

  6. Loin pain hematuria syndrome.

    Science.gov (United States)

    Taba Taba Vakili, Sahar; Alam, Tausif; Sollinger, Hans

    2014-09-01

    Loin pain hematuria syndrome is a rare disease with a prevalence of ∼0.012%. The most prominent clinical features include periods of severe intermittent or persistent unilateral or bilateral loin pain accompanied by either microscopic or gross hematuria. Patients with loin pain hematuria syndrome initially present with hematuria, flank pain, or most often both hematuria and flank pain. Kidney biopsies from patients with loin pain hematuria typically reveal only minor pathologic abnormalities. Further, loin pain hematuria syndrome is not associated with loss of kidney function or urinary tract infections. Loin pain hematuria syndrome-associated hematuria and pain are postulated to be linked to vascular disease of the kidney, coagulopathy, renal vasospasm with microinfarction, hypersensitivity, complement activation on arterioles, venocalyceal fistula, abnormal ureteral peristalsis, and intratubular deposition of calcium or uric acid microcrystals. Many patients with loin pain hematuria syndrome also meet criteria for a somatoform disorder, and analgesic medications, including narcotics, commonly are used to treat loin pain hematuria syndrome-associated pain. Interventional treatments include renal denervation, kidney autotransplantation, and nephrectomy; however, these methods should be used only as a last resort when less invasive measures have been tried unsuccessfully. In this review article, we discuss and critique current clinical practices related to loin pain hematuria syndrome pathophysiology, diagnosis, treatment, and prognosis. Copyright © 2014 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.

  7. [Poland's syndrome].

    Science.gov (United States)

    Slezak, R; Sasiadek, M

    2000-08-01

    Poland's syndrome consists of the variable clinical features, but always includes unilateral aplasia of the chest wall muscles and ipsilateral anomalies of upper extremity. The incidence of Poland's syndrome, reported by different authors ranges from 1:10,000 to 1:100,000 and is observed more frequently in males than in females with the right side of the body affected more often than the left. The etiology of this syndrome is still discussed. However most of described cases were sporadic, rare familial incidence of Poland's syndrome were also presented. Therefore different etiologic factors of the Poland's syndrome are taken into account: genetic, vascular compromise during early stages of embriogenesis but also teratogenic effect of environmental xenobiotics (e.g. cigarette smoking by pregnant women). The authors present also the case of 20-years old man with inherited bilateral syndactyly with the right side aplasia of major pectoralis muscle and face asymmetry. The familial history was negative in respect to the features, associated with Poland's syndrome.

  8. [Evaluation of the primary caregiver syndrome when caring for elderly adults with immobility syndrome].

    Science.gov (United States)

    Morales-Cariño, Elizabeth María; Jiménez-Herrera, Blanca L; Serrano-Miranda, Tirzo A

    2012-01-01

    Caregiver syndrome may develop in caregivers of elderly adults. To evaluate the repercussions of the immobility syndrome present in elderly adults on their primary caregivers as well as to determine the clinical and socio-demographic characteristics of the elderly adult and caregiver. The study population included patients over 65 recruited in the Geriatric Rehabilitation Department, with the diagnosis of immobility syndrome and that required a primary caregiver. A questionnaire including socio-demographic variables was applied to all patients and caregivers, and the Zarit scale was also applied to caregivers in order to determine the presence of caregiver syndrome. Analysis was performed with descriptive statistical methods; Student's t test and Fisher's test were used for comparisons between strata. 75 patients and their caregivers were evaluated; patient average age was 75.9 years and 85.3% were female. 50.7% (38 cases) had mild immobility. The average caregiver's age was 50.6%, 70.7% were female and 57.3% were the patient's daughter. Caregiver syndrome was detected in 60% of them: 57.7% had mild symptoms and in 42.2%, symptoms were moderate to severe. No statistically significant association was established between the development of caregiver syndrome and the degree of patient immobility. Caregivers of patients with immobility syndrome are at high risk of developing caregiver syndrome, thus underscoring the need to include primary caregiver support programs.

  9. Cushing's syndrome during pregnancy

    NARCIS (Netherlands)

    Mulder, W. J.; Berghout, A.; Wiersinga, W. M.

    1990-01-01

    Two cases of Cushing's syndrome during pregnancy are reported, both due to an adrenal adenoma. The association of pregnancy and Cushing's syndrome has up to now been described in 48 patients (including our two cases); Cushing's syndrome was ACTH-independent in 59%, ACTH-dependent in 33%, and of

  10. Targets to treat metabolic syndrome in polycystic ovary syndrome.

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2015-01-01

    Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics.

  11. Targets to treat metabolic syndrome in polycystic ovary syndrome

    Science.gov (United States)

    Mahalingaiah, Shruthi; Diamanti-Kandarakis, Evanthia

    2016-01-01

    Introduction Metabolic syndrome is comprised of a combination of the following states: increased insulin resistance, dyslipidemia, cardiovascular disease, and increased abdominal obesity. Women with polycystic ovary syndrome (PCOS) have an increased risk of developing metabolic syndrome over the course of their lives. Metabolic syndrome increases risk of major cardiovascular events, morbidity, quality of life, and overall health care costs. Though metabolic syndrome in women with PCOS is an area of great concern, there is no effective individual medical therapeutic to adequately treat this issue. Areas Covered This article will review key aspects of metabolic syndrome in PCOS. We will discuss classic and novel therapeutics to address metabolic syndrome in women with PCOS. We will conclude with the importance of developing strategic interventions to increase the compliance to lifestyle and dietary modification, in addition to appreciation of the emerging pharmaceutical therapeutics available. Expert Opinion Innovation in lifestyle modification, including diet, exercise, with and without dedicated stress reduction techniques is the future in treatment of metabolic syndrome in PCOS. Application of novel interventions, such as group medical care, may improve future adherence to lifestyle modification recommendations, in addition to or in combination with pharmaceutical therapeutics. PMID:26488852

  12. Investigación e innovación en puentes y torres eólicas prefabricadas de hormigón pretensado

    OpenAIRE

    Marí Bernat, Antonio Ricardo; Bairán García, Jesús Miguel; Oller Ibars, Eva; Duarte Gómez, Noemí

    2011-01-01

    Se presenta la investigación teórica y experimental realizada por los autores durante los últimos años en colaboración con empresas de prefabricación y de aerogeneradores, que ha dado lugar a nuevos tipos estructurales de puentes y torres eólicas de hormigón pretensado, con excelentes prestaciones estructurales, estéticas, resultando además económicamente competitivas. Se muestran algunas obras realizadas a partir de los conceptos desarrollados, destacando entre ellas puentes prefabricados...

  13. Cowden syndrome

    Directory of Open Access Journals (Sweden)

    Ravi Prakash S

    2010-01-01

    Full Text Available Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

  14. Trail impacts and trail impact management related to ecotourism visitation at Torres del Paine National Park, Chile

    Science.gov (United States)

    Farrell, T.A.; Marion, J.L.

    2002-01-01

    Ecotourism and protected area visitation in Central and South America are largely dependent upon a relatively undisturbed quality of natural resources. However, visitation may impact vegetation, soil, water and wildlife resources, and degrade visitor facilities such as recreation sites and trails. Findings are reported from trail impact research conducted at Torres del Paine National Park in Patagonia, Chile. The frequency and magnitude of selected trail impacts and the relative effect of the amount of use, vegetation type, trail position and trail grade are investigated. Findings differed from previous studies in that amount of use was significantly related to both trail width increases and trail erosion. Management actions to minimize trail impacts are offered.

  15. Hacia la construcción del gracioso: Carnaval y metateatralidad en los pastores de Bartolomé Torres Naharro

    Directory of Open Access Journals (Sweden)

    Julio Vélez-Sainz

    2009-09-01

    Full Text Available Resumen: Es común en la crítica del teatro áureo destacar la función metaliteraria del personaje del gracioso. Éste funcionaría como un elemento casi ficticio dentro de la ficción de la comedia (la “ilusión escénica” y sus apartes dramáticos marcan el ritmo de ésta, lo que le serviría a los autores a ejercer una cierta crítica literaria a partir de estos personajes. El siguiente estudio plantea un acercamiento a los albores del teatro laico en la España pre-renacentista que desvela la metateatralidad de las figuras cómicas del teatro prelopista. Sostenemos que la autorreferencialidad del gracioso que tanto ha destacado la crítica es, en realidad, un rasgo heredado de sus antepasados teatrales: los pastores del pacense Bartolomé de Torres Naharro.Summary: Theater critics have insisted upon the metaliterary function of the gracioso stock-character in the Spanish Golden Age. This comic figure works as a quasi-fictitious element within the theatrical fiction (the “scenic illusion”, as some have termed and his dramatic comments and asides would serve to path the rhythm of the scenes. This character could also be used to insert comments of literary criticism The following study approaches dramatis personae of lay Renaissance theater that unveil the metatheatricality of the pre-Lopean comic figures. I thus assert that the self-referentiality of the gracioso is, in fact, a trait inherited from the gracioso´s predecessors, among them the comic shepherds of the Badajoz-born author Bartolomé de Torres Naharro.

  16. Cases of Trichohepatoenteric Syndrome (Syndromic Diarrhea with Underlying Crohn’s Disease

    Directory of Open Access Journals (Sweden)

    Е. А. Roslavtseva

    2015-01-01

    Full Text Available Tricho-hepato-enteric syndrome (syndromic, phenotypic diarrhea, SD/THES is a rare inborn disease, which affects bowels. It is caused by the mutation of genes SKIV2L or TTC37. Manifestations include intrauterine hypotrophy, severe chronic diarrhea, which starts in infancy, characteristic facial features and hair growth abnormalities, immune disorders. There are data on two patients dealing with tricho-hepato-enteric syndrome with underlying Crohn’s disease. This is the first description of cases of aggravated tricho-hepatoenteric syndrome ever found in Russian medical literature. 

  17. Eating disorder features in indigenous Aboriginal and Torres Strait Islander Australian Peoples

    Directory of Open Access Journals (Sweden)

    Hay Phillipa J

    2012-03-01

    Full Text Available Abstract Background Obesity and related cardiovascular and metabolic conditions are well recognized problems for Australian Aboriginal and Torres Strait Islander peoples. However, there is a dearth of research on relevant eating disorders (EDs such as binge eating disorder in these groups. Methods Data were obtained from interviews of 3047 (in 2005 and 3034 (in 2008 adults who were participants in a randomly selected South Australian household survey of individuals' age > 15 years. The interviewed comprised a general health survey in which ED questions were embedded. Data were weighted according to national census results and comprised key features of ED symptoms. Results In 2005 there were 94 (85 weighted First Australian respondents, and in 2008 65 (70 weighted. Controlling for secular differences, in 2005 rates of objective binge eating and levels of weight and shape influence on self-evaluation were significantly higher in indigenous compared to non-indigenous participants, but no significant differences were found in ED features in 2008. Conclusions Whilst results on small numbers must be interpreted with caution, the main finding was consistent over the two samples. For First Australians ED symptoms are at least as frequent as for non-indigenous Australians.

  18. Epilepsy in KCNH1-related syndromes

    NARCIS (Netherlands)

    Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D. V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo

    Aim. KCNH1 mutations have been identified in patients with Zimmermann-Laband syndrome and Temple-Baraitser syndrome, as well as patients with uncharacterized syndromes with intellectual disability and overlapping features. These syndromes include dysmorphic facial features, nail hypo/aplasia, thumb

  19. Lemierre's syndrome

    DEFF Research Database (Denmark)

    Johannesen, Katrine M; Bodtger, Uffe

    2016-01-01

    This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and/or ...... LS in this day and age appears to be low, however the syndrome is difficult to recognize, and still requires the full attention of the clinician.......This is a systematic review of cases with Lemierre's syndrome (LS) in the past 5 years. LS is characterized by sepsis often evolving after a sore throat or tonsillitis and then complicated by various septic emboli and thrombosis of the internal jugular vein. Symptoms include sepsis, pain, and....../or swelling in the throat or neck, as well as respiratory symptoms. Laboratory findings show elevated infectious parameters and radiological findings show thrombosis of the internal jugular vein and emboli in the lungs or other organs. The syndrome is often associated with an infection with Fusobacterium...

  20. Heloisa Alberto Torres and the national inquiry about Natural Sciences and Anthropology, 1946

    Directory of Open Access Journals (Sweden)

    Heloisa Maria Bertol Domingues

    2010-12-01

    Full Text Available The purpose of the article is to analyze a document elaborated by a former National Museum of Rio de Janeiro Director, Heloisa Alberto Torres (1895-1977, who proposed to make a study of the state of affairs of the Natural Sciences and Anthropology in order to restructure the scientific research as a function of the Brazilian economic, political, and social development. The document was sent to the rector of the Universidade do Brasil, Pedro Calmon (1902-1985, in 1946, at the end of the Brazilian Estado Novo and the Second World War, when the Director was reconducted to the post she was in charge since 1938. According to the document the political role of the Natural Sciences and the Anthropology should be exerted in the theoretical limits of Ecology, which collided with the political demands of inordinate exploitation of the nartural resources. The Director's ideas ended up limited to institutional projects, carried out within the framework of the international scientific cooperation politics. This facilitated the circulation of scientists and benefited from national and foreign financial support.

  1. Probing the Ocean for Submarines. A History of the AN/SQS-26 Long-Range, Echo-Ranging Sonar. Second Edition

    Science.gov (United States)

    2010-01-01

    to a second insulated electrode. For a receiver, Langevin used a waterproofed carbon microphone. By March 1916, he had achieved one-way acoustic...Navy Underwater Sound Laboratory, New London, CT, 24 February 1956 (UNCLASSIFIED). 19. M. Muir, Jr., Black Shoes and Blue Water: Surface Warfare...History of AN/SQS-26 Project at NUSC.” 60. Muir, Black Shoes and Blue Water, p. 131. 61. B. S. Blanchard and W. J. Fabrycky, Systems Engineering and

  2. Marine-Lenhart syndrome in two adolescents, including one with thyroid cancer: a case series and review of the literature.

    Science.gov (United States)

    Sharma, Animesh

    2017-11-27

    The coexistence of functional thyroid nodules and Graves' disease (GD) is a rare condition known as Marine-Lenhart syndrome. Thyroid cancer has been described in several adults, but never in children, with Marine-Lenhart syndrome. This paper discusses the challenges in diagnosis and the unique management of this condition in children, in the context of extant literature. In this case report, two adolescent female patients with Marine-Lenhart syndrome, aged 15 and 16 years, exhibited biochemical evidence of hyperthyroidism, and were found to have unilateral hyperfunctioning thyroid nodules via thyroid scintigraphy. Additionally, both patients showed elevated thyroid-stimulating immunoglobulins (TSI) and increased glandular activity, confirming background GD. Notably, one patient was also diagnosed with intranodular thyroid cancer upon preoperative examination. Both patients were treated via surgical resection. Summary and outlook: Diagnosis of Marine-Lenhart syndrome can be made in patients with functional thyroid nodules and increased glandular activity on thyroid scintigraphy. Standard doses of radioiodine ablation are not effective in the majority of patients and should be avoided due to the increased risk for thyroid cancer, making thyroidectomy the preferred treatment.

  3. The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

    Science.gov (United States)

    Chograni, Manèl; Rejeb, Imen; Jemaa, Lamia Ben; Châabouni, Myriam; Bouhamed, Habiba Chaabouni

    2011-08-01

    Nance-Horan Syndrome (NHS) or X-linked cataract-dental syndrome is a disease of unknown gene action mechanism, characterized by congenital cataract, dental anomalies, dysmorphic features and, in some cases, mental retardation. We performed linkage analysis in a Tunisian family with NHS in which affected males and obligate carrier female share a common haplotype in the Xp22.32-p11.21 region that contains the NHS gene. Direct sequencing of NHS coding exons and flanking intronic sequences allowed us to identify the first missense mutation (P551S) and a reported SNP-polymorphism (L1319F) in exon 6, a reported UTR-SNP (c.7422 C>T) and a novel one (c.8239 T>A) in exon 8. Both variations P551S and c.8239 T>A segregate with NHS phenotype in this family. Although truncations, frame-shift and copy number variants have been reported in this gene, no missense mutations have been found to segregate previously. This is the first report of a missense NHS mutation causing NHS phenotype (including cardiac defects). We hypothesize also that the non-reported UTR-SNP of the exon 8 (3'-UTR) is specific to the Tunisian population.

  4. Beta-cell function is associated with metabolic syndrome in Mexican subjects

    Directory of Open Access Journals (Sweden)

    Pérez-Fuentes

    2010-08-01

    Full Text Available Blanca G Baez-Duarte1,3, María Del Carmen Sánchez-Guillén3†, Ricardo Pérez-Fuentes2,3, Irma Zamora-Ginez1,3, Bertha Alicia Leon-Chavez1, Cristina Revilla-Monsalve4, Sergio Islas-Andrade41Posgrado en Ciencias Químicas, Benemérita Universidad Autónoma de Puebla, México; 2Facultad de Medicina, Benemérita Universidad Autónoma de Puebla, México; 3Centro de Investigación Biomédica de Oriente, Instituto Mexicano del Seguro Social, Atlixco, Puebla, México; 4Multidiciplinary Research Group on Diabetes (José Sánchez-Corona, Fernando Guerrero-Romero, Martha Rodriguez-Moran, Agustin Madero, Jorge Escobedo-de-la-Peña, Silvia Flores-Martinez, Esperanza, Martinez-Abundis, Manuel Gonzalez-Ortiz, Alberto Rascon-Pacheco, Margarita Torres-Tamayo, Instituto Mexicano del Seguro Social, México, Distrito Federal, México; †María Del Carmen Sánchez-Guillén passed away on 27 November 2009.Aims: The clinical diagnosis of metabolic syndrome does not find any parameters to evaluate the insulin sensitivity (IS or β-cell function. The evaluation of these parameters would detect early risk of developing metabolic syndrome. The aim of this study is to determine the relationship between β-cell function and presence of metabolic syndrome in Mexican subjects.Material and methods: This study is part of the Mexican Survey on the Prevention of Diabetes (MexDiab Study with headquarters in the city of Puebla, Mexico. The study comprised of 444 subjects of both genders, aged between 18 and 60 years and allocated into two study groups: (1 control group of individuals at metabolic balance without metabolic syndrome and (2 group composed of subjects with metabolic syndrome and diagnosed according to the criteria of the Third Report of the National Cholesterol Education Program Expert Panel on Defection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Anthropometric, biochemical, and clinical assessments were carried out.Results: Average age of the

  5. Translators and teachers of languages: grammars and vocabularies, Francisco de la Torre y Ocón (1728-1731 Traductores y maestros de lenguas: gramáticas y vocabularios, el caso de Francisco de la Torre y Ocón (1728-1731

    Directory of Open Access Journals (Sweden)

    M.ª del Carmen CAZORLA VIVAS

    2013-03-01

    Full Text Available The 18th Century has not been studied in depth by experts on Historical Linguistics. However, this is a fruitful and important period in the history of dictionaries as far as lexicography is concerned. The present paper focuses on the lexicographer and translator Francisco de la Torre y Ocón (1660-1725 and his work El maestro de las dos lenguas. Diccionario español y francés en dos tomos. (1726-1728. The work by this renowned author will be analyzed within the framework of its historical and linguistic period (first half of the 18th Century. His approach to lexicography will be similarly analyzed with the aim of contributing to a better understanding of bilingual (French-Spanish lexicography.El siglo XVIII, dejando a un lado la labor académica, no ha sido estudiado en profundidad todavía por parte de los estudiosos de la historia de la lengua. Sin embargo, al menos en lo que a lexicografía se refiere, es una época fecunda y muy importante para la historia de los diccionarios. En el trabajo que proponemos vamos a tratar de un maestro de lenguas, gramático, lexicógrafo y traductor, concretamente Francisco de la Torre y Ocón (1660-1725, y de su obra El maestro de las dos lenguas. Diccionario español y francés en dos tomos. (1726-1728. Situaremos la labor de este autor en su contexto histórico (la primera mitad del siglo XVIII y lingüístico y analizaremos su labor lexicográfica (descripción metalexicográfica, tipo de léxico incluido, definiciones, marcas, etc. con el fin de contribuir a un mejor conocimiento de la lexicografía bilingüe francés-español.

  6. Role of atrial fibrillation and atrioventricular conduction (including Wolff-Parkinson-White Syndrome) in sudden death

    NARCIS (Netherlands)

    Meijler, F.L.; Tweel, I. van der; Herbschleb, J.N.; Hauer, R.N.W.; Robles de Medina, E.O.

    A short refractory period of the accessory pathway is considered a major threat for sudden death in patients with Wolff-Parkinson-White syndrome and atrial fibrillation. RR interval and QRS signal analysis together with signal analysis of a bipolar high right atrial electrogram were obtained in six

  7. Culture Matters. Community Report. Reporting on a Research Project To Explore Factors Affecting the Outcomes of Vocational Education and Training for Aboriginal and Torres Straits Islander People.

    Science.gov (United States)

    Buchanan, Matthew; Egg, Mez

    The factors leading to positive outcomes in vocational education and training (VET) for Aboriginal and Torres Strait Islander people were examined through person-to-person and telephone interviews with indigenous Australian students and VET providers. The interviews focused on the following: the range of VET provision and the extent of its…

  8. A Giant Hepatic Hemangioma Complicated by Kasabach-Merritt Syndrome: Findings of Tc-99m RBC Scintigraphy and SPECT Including a Total Body Blood Pool Imaging Study

    Energy Technology Data Exchange (ETDEWEB)

    Sohn, Myung Hee; Jeong, Hwan Jeong; Lim, Seok Tae; Kim, Dong Wook; Yim, Chang Yeol [Chonbuk National University Medical School, Jeonju (Korea, Republic of)

    2009-02-15

    Kasabach-Merritt syndrome (KMS) consists of thrombocytopenia, microangiopathic hemolytic anemia, and localized consumption coagulopathy that develops within vascular hemangioma. This syndrome may also be associated with occult hemangiomas located at various sites. Tc-99m RBC scintigraphy and SPECT have proven to be reliable for confirming or excluding hemangioma. Total body blood pool imaging study during the scintigraphy also provides a means of screening for occult lesions. The authors report the case of a 29-year-old man who presented with a giant hepatic hemangioma complicated by KMS, and underwent Tc-99m RBC scintigraphy and SPECT including a total body blood pool imaging study.

  9. Pfeiffer syndrome

    Directory of Open Access Journals (Sweden)

    Fryns Jean-Pierre

    2006-06-01

    Full Text Available Abstract Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.

  10. Naumoff short-rib polydactyly syndrome compounded with Mohr oral-facial-digital syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Young, L.W.; Wilhelm, L.L. [Loma Linda Univ., CA (United States). Medical Center; Zuppan, C.W. [Div. of Pediatric Pathology, Loma Linda University Medical Center, CA (United States); Clark, R. [Div. of Medical Genetics, Loma Linda University Medical Center, CA (United States)

    2001-01-01

    A stillborn baby boy had findings of severe constitutional dwarfism with short limbs, short ribs, and polydactyly that were consistent with Naumoff (type III) short-rib polydactyly syndrome. He also had additional congenital anomalies, including cleft palate, notching of the upper lip, small tongue with accessory sublingual tissue. These oral and pharyngeal anomalies were consistent with Mohr (type II) oral-facial-digital syndrome. We suggest the stillborn infant represented a compound of Naumoff short-rib polydactyly syndrome (SRPS-III) and Mohr oral-facial-digital syndrome (OFDS-II). (orig.)

  11. Homer: A Collection of Critical Essays. Twentieth Century Views Series.

    Science.gov (United States)

    Steiner, George, Ed.; Fagles, Robert, Ed.

    One of a series of works aimed at presenting contemporary critical opinion on major authors, this collection includes essays by George Steiner, Leo Tolstoy, Ezra Pound, Erich Auerbach, Edwin Muir, Cedric H. Whitman, Albert B. Lord, W. H. Auden, Ernst Bloch, Georg Lukacs, C. Day Lewis, Gabriel Germain, Franz Kafka, Rachel Bespaloff, Robert…

  12. Thoughts on the behavioural phenotypes in Prader-Willi syndrome and velo-cardio-facial syndrome: A novel approach

    NARCIS (Netherlands)

    Verhoeven, W.M.A.; Egger, J.I.M.; Tuinier, S.

    2007-01-01

    In both Prader-Willi syndrome (PWS) and 22q11 deletion syndrome [velo-cardio-facial syndrome (VCFS)], an increased risk for psychotic disorders is reported, which are as a rule not included in the behavioural phenotype of these two syndromes. For the description of a behavioural phenotype, the

  13. Restauración de la torre mudéjar del salvador de Teruel. Aragón, España

    Directory of Open Access Journals (Sweden)

    Pérez Sánchez, Antonio

    1993-12-01

    Full Text Available The Torre del Salvador together with the rest of the Mudejar architecture of Teruel was included in the World Heritage List in Í986. Its restoration, promoted by the Aragón Government, has kept in mind its value as architectural element, a key piece of the Mudejar style of Aragón and Spain and as a symbolic part of the city. Paying attention to these meanings, the intervention tries to extend its survival and return it its splendor. There are no spatial transformations but merely an encounter with the traditional materials, a study and a contemporary interpretation of them and of the techniques through which they were applied. It was necessary to pay special attention to the plaster since it was the only composite used, as well as to another fundamental part of the Mudejar style of Teruel, the glazed ceramics of the facades, partly lost or deteriorated. The article tries to transmit the methodology of the project and the work which, together with the close familiarity with the building itself have been essential in the documentary and complementary studies.

    La Torre del Salvador, junto con el resto de arquitectura mudéjar de Teruel, fue incluida en la Lista del Patrimonio Mundial en 1986. Su restauración, promovida por el Gobierno de Aragón, ha tenido en cuenta su valor como elemento arquitectónico, pieza clave del mudéjar aragonés y español y como parte simbólica de la ciudad. Atendiendo estos significados la intervención trata de prolongar su supervivencia y devolverle su esplendor. No hay transformaciones espaciales, tan sólo un encuentro con los materiales tradicionales, su estudio, y una interpretación actual de los mismos y de las técnicas con las que fueron aplicados. Ha sido necesario prestar especial atención al yeso por ser el único aglomerante con que se construyó y a la cerámica vidriada de fachadas, inseparable del mudéjar turolense, en parte perdida o deteriorada. El artículo intenta transmitir la

  14. Correção cirúrgica da doença de Hirschprung pela técnica de de la Torre-Mondragon

    Directory of Open Access Journals (Sweden)

    Gabriela Teixeira Araujo

    2015-10-01

    Full Text Available A Aganglionose Intestinal Congênita (AIC, ou Doença de Hirschprung, é uma má formação caracterizada pela ausência de células ganglionares nos plexos mioentérico e submucoso da porção distal do trato gastrointestinal. Assim, o segmento aganglionar é aperistáltico e espástico, constituindo um obstáculo ao transito intestinal e gerando a dilatação do segmento saudável. A doença costuma manifestar-se no período neonatal com obstrução intestinal, distensão abdominal e vômitos. O tratamento é cirúrgico, pela técnica de De La Torre-Mondragon, realizada em um tempo cirúrgico e sem colostomia prévia. Relato do caso: P.R.D., masculino, 33 dias de vida, foi encaminhado ao serviço com quadro de distensão abdominal e parada da eliminação de fezes há 22 horas. Foi internado primeiramente aos cinco dias de vida com quadro de obstrução intestinal, aliviada após limpeza mecânica. Encontrava-se com abdômen distendido, flácido, sem sinais de desconforto à palpação e ruídos hidroaéreos presentes. O enema opaco evidenciou progressão do contraste com dilatação do retossigmoide. A manometria retal demonstrou reflexo inibitório anorretal não desencadeado, com inúmeras evacuações do lactente durante o exame. Foi indicada correção cirúrgica feita pela técnica de De La Torre-Mondragon, sem intercorrências. Anatomopatológico da peça cirúrgica confirmou ausência de células ganglionares no segmento. O diagnóstico preciso e o manejo cirúrgico precoce foi fundamental para evitar a principal complicação desta doença, a enterocolite necrosante. A técnica de De La Torre-Mondragon consiste no rebaixamento transanal endorretal do cólon e permitiu a recuperação do transito intestinal precocemente, sem a necessidade de colostomia. O reestabelecimento precoce do transito intestinal melhorou a qualidade de vida do paciente e diminuiu custos e o tempo de hospitalização.

  15. Important clinical descriptors to include in the examination and assessment of patients with femoroacetabular impingement syndrome

    DEFF Research Database (Denmark)

    Reiman, M P; Thorborg, K; Covington, K

    2017-01-01

    PURPOSE: Determine which examination findings are key clinical descriptors of femoroacetabular impingement syndrome (FAIS) through use of an international, multi-disciplinary expert panel. METHODS: A three-round Delphi survey utilizing an international, multi-disciplinary expert panel operationally...

  16. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael Hecht; Jeppesen, Jørgen; Larsen, Mogens Lytken

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun...

  17. Hypertension og det metaboliske syndrom

    DEFF Research Database (Denmark)

    Olsen, Michael; Jeppesen, Jørgen; Larsen, Mogens

    2009-01-01

    The metabolic syndrome is a relatively prevalent condition characterized by co-existence of several metabolic and cardiovascular risk factors including hypertension. Patients with hypertension have an increased risk of developing the metabolic syndrome which, in turn, increases the cardiovascular...... syndrome is of clinical importance as it makes the treating physician test for other elements of the syndrome in patients with one of the elements, e.g. hypertension. Udgivelsesdato: 2009-Jun-15...

  18. Autoimmune/inflammatory syndrome induced by adjuvants (Shoenfeld's syndrome) - An update.

    Science.gov (United States)

    Watad, A; Quaresma, M; Brown, S; Cohen Tervaert, J W; Rodríguez-Pint, I; Cervera, R; Perricone, C; Shoenfeld, Y

    2017-06-01

    Autoimmune/inflammatory syndrome induced by adjuvants (ASIA) has been widely described in many studies conducted thus far. The syndrome incorporates five immune-mediated conditions, all associated with previous exposure to various agents such as vaccines, silicone implants and several others. The emergence of ASIA syndrome is associated with individual genetic predisposition, for instance those carrying HLA-DRB1*01 or HLA-DRB4 and results from exposure to external or endogenous factors triggering autoimmunity. Such factors have been demonstrated as able to induce autoimmunity in both animal models and humans via a variety of proposed mechanisms. In recent years, physicians have become more aware of the existence of ASIA syndrome and the relationship between adjuvants exposure and autoimmunity and more cases are being reported. Accordingly, we have created a registry that includes at present more than 300 ASIA syndrome cases that have been reported by different physicians worldwide, describing various autoimmune conditions induced by diverse adjuvants. In this review, we have summarized the updated literature on ASIA syndrome and the knowledge accumulated since 2013 in order to elucidate the association between the exposure to various adjuvant agents and its possible clinical manifestations. Furthermore, we especially referred to the relationship between ASIA syndrome and systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS).

  19. Reproductive biology of Tinantia anomala (Torr. C.B. Clarke

    Directory of Open Access Journals (Sweden)

    Joanna Gębura

    2014-04-01

    Full Text Available Tinantia anomala (Torr. C.B. Clarke (Commelinaceae is an annual plant endemic to central Texas in the United States and Durango in northern Mexico. T. anomala has zygomorphic flowers with three different petals, androecium consists of six various stamens and gynoecium consists of three carpels. Furthermore in T. anomala’s flowers there are many staminal hairs (Faden 2006. Its semi-succulent, grass-like leaves emerge in late fall and remain green throughout the cold months. It grows rapidly in early spring and blooms mid-spring (from March to May. A few weeks later the fruits (capsules with four seeds usually appear. This entire cycle is usually completed by summer, when the plant has often turned yellow and limp. We studied T. anomala due to the occurrence of two types of strikingly different stamens occur in one flower. According to available literature, one type of the stamens (the upper one with smaller anthers produces sterile pollen grains which do not participate in fertilization but only attract insects. The other type, i.e. the lower stamens with bigger anthers can form abundant pollen grains used for pollination (Simpson et al. 1986. Our aim was to investigate type of pollination of T. anomala. Using many microscopic methods we were able to analyze and compare the morphology of two types of anthers and staminal hairs in T. anomala’s flowers. We also investigated this species in terms of development of its gametophytes. An embryo sac develops according to the type of Polygonum. Pollen grains develop during different ways depending on the chemical composition of each anther. We identified that the insects of Thysanoptera which preys on the withered flowers T. anomala could be responsible for pollination of this species under greenhouse condition.

  20. Unusual headache syndromes.

    Science.gov (United States)

    Queiroz, Luiz P

    2013-01-01

    Some headache syndromes have few cases reported in the literature. Their clinical characteristics, pathogenesis, and treatment may have not been completely defined. They may not actually be uncommon but rather under-recognized and/or underreported. A literature review of unusual headache syndromes, searching PubMed and ISI Web of Knowledge, was performed. After deciding which disorders to study, relevant publications in scientific journals, including original articles, reviews, meeting abstracts, and letters or correspondences to the editors were searched. This paper reviewed the clinical characteristics, the pathogenesis, the diagnosis, and the treatment of five interesting and unusual headache syndromes: exploding head syndrome, red ear syndrome, neck-tongue syndrome, nummular headache, and cardiac cephalgia. Recognizing some unusual headaches, either primary or secondary, may be a challenge for many non-headache specialist physicians. It is important to study them because the correct diagnosis may result in specific treatments that may improve the quality of life of these patients, and this can even be life saving. © 2013 American Headache Society.

  1. Cockayne syndrome

    DEFF Research Database (Denmark)

    Karikkineth, Ajoy C; Scheibye-Knudsen, Morten; Fivenson, Elayne

    2017-01-01

    Cockayne syndrome (CS) is a disorder characterized by a variety of clinical features including cachectic dwarfism, severe neurological manifestations including microcephaly and cognitive deficits, pigmentary retinopathy, cataracts, sensorineural deafness, and ambulatory and feeding difficulties...

  2. Nelson syndrome: definition and management.

    Science.gov (United States)

    Barber, T M; Adams, E; Wass, J A H

    2014-01-01

    Nelson syndrome is an important complication of treatment with total bilateral adrenalectomy (TBA) for patients with refractory Cushing's disease. Although early cases of Nelson syndrome often presented with the clinical features of large sellar masses, the modern face of Nelson syndrome has changed primarily due to earlier detection (with highly resolved magnetic resonance imaging (MRI) and sensitive ACTH assays) and greater awareness of the condition, resulting in reduced morbidity and mortality. Although lack of administration of neoadjuvant pituitary radiotherapy post-TBA surgery may predict future development of Nelson syndrome, other predictive factors remain controversial. Therefore, Nelson syndrome should be screened for closely and long-term in all patients with a history of Cushing's disease and TBA. The diagnosis of Nelson syndrome remains controversial, and the pathogenesis of this condition is incompletely understood. Current hypotheses include the "released negative feedback" mechansism (residual pituitary corticotropinoma cells are "released" from the negative feedback effects of cortisol following TBA), and the "aggressive corticotropinoma" mechanism (Nelson syndrome is most likely to develop in those patients with refractory treatments - including TBA - for an underlying aggressive corticotropinoma). Effective management of Nelson syndrome with pituitary surgery and radiotherapy is often a challenge. Other therapies (such as Gamma Knife surgery and temozolomide) play an important role and merit further research into their efficacy and placement in the management pathway of Nelson syndrome. © 2014 Elsevier B.V. All rights reserved.

  3. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome.

    Science.gov (United States)

    Meester, Josephina A N; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut; Loeys, Bart L

    2017-11-01

    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1 , coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2 , SMAD2/3 , or TGFB2/3 , all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

  4. Differences in manifestations of Marfan syndrome, Ehlers-Danlos syndrome, and Loeys-Dietz syndrome

    Science.gov (United States)

    Meester, Josephina A. N.; Verstraeten, Aline; Schepers, Dorien; Alaerts, Maaike; Van Laer, Lut

    2017-01-01

    Many different heritable connective tissue disorders (HCTD) have been described over the past decades. These syndromes often affect the connective tissue of various organ systems, including heart, blood vessels, skin, joints, bone, eyes, and lungs. The discovery of these HCTD was followed by the identification of mutations in a wide range of genes encoding structural proteins, modifying enzymes, or components of the TGFβ-signaling pathway. Three typical examples of HCTD are Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), and Loeys-Dietz syndrome (LDS). These syndromes show some degree of phenotypical overlap of cardiovascular, skeletal, and cutaneous features. MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva. LDS is caused by mutations in TGBR1/2, SMAD2/3, or TGFB2/3, all coding for components of the TGFβ-signaling pathway. LDS can be distinguished from MFS by the unique presence of hypertelorism, bifid uvula or cleft palate, and widespread aortic and arterial aneurysm and tortuosity. Compared to MFS, LDS cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis, a key distinguishing feature of MFS. Overlapping features between MFS and LDS include scoliosis, pes planus, anterior chest deformity, spontaneous pneumothorax, and dural ectasia. EDS refers to a group of clinically and genetically heterogeneous connective tissue disorders and all subtypes are characterized by variable abnormalities of skin, ligaments and joints, blood vessels, and internal organs. Typical presenting features include joint hypermobility, skin hyperextensibility, and tissue fragility. Up to one quarter of the EDS patients show aortic aneurysmal

  5. Estudio y diseño de un sistema inmótico para seguridad, comunicación y confort, utilizando el protocolo KNX para el edificio Torre Piamonte ubicado en el sector de Totoracocha de la ciudad de Cuenca

    OpenAIRE

    Jara Maldonado, Pedro Alcibiades

    2015-01-01

    El presente proyecto tiene como objetivo el estudio y diseño de un sistema inmótico para el edificio "Torre Piamonte" de la Ciudad de Cuenca. El estándar propuesto es el KNX. Se tiene los planos arquitectónicos y el diseño de planos inmóticos del edificio. Al final se obtiene el TIR y VAN para verificar la factibilidad del proyecto. This project aims to study and design of a building automation system for the "Torre Piedmont" building in the City of Cuenca. The proposed standard is the KNX...

  6. Efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome.

    Science.gov (United States)

    Chauhan, Vidyalaxmi; Shah, Maitri C; Patel, Sangita V; Marfatia, Yogesh S; Zalavadiya, Dhara

    2016-01-01

    In spite of a few shortcomings such as over diagnosis and over treatment, syndromic management is a recommended practice in India for sexually transmitted infections (STIs). This study tries to find out the efficacy of syndromic management measured as symptomatic improvement in females with vaginal discharge syndrome. The objective of the study is to find out the effectiveness of syndromic management in terms of symptomatic improvement among females with vaginal discharge syndrome. A longitudinal study was conducted in Gynecology Department of Tertiary Care Hospital including 180 symptomatic females having vaginal discharge syndrome. Demographic profile, presenting complaints, menstrual history, obstetric history, partner history, and contraceptive history were noted. This was followed by clinical examination and specimen collection for laboratory tests and blood tests to find out type of STI including viral STI such as human immunodeficiency virus (HIV), herpes simplex virus (HSV), and hepatitis B surface antigen (HBsAg). Treatment was given according to syndromic management on the same day. All the participants were asked to come for follow-up after 15 days and their improvement in symptoms was noted as complete improvement, some improvement or no improvement on a five point scale. 63.9% cases showed complete improvement, while 36.1% showed some improvement. None of the patients was without any improvement. Vaginal discharge syndrome was most common between 20 and 30 years (43.4%), and 67.8% of symptomatic females with vaginal discharge syndrome belonged to the lower socioeconomic group. HSV infection was the most common (15%) associated viral infection with vaginal discharge syndrome, while hepatitis B infection was the least common (0.5%). HIV was reactive in 2.8% cases only. Syndromic management was found to be effective in relieving symptoms in most of the cases of vaginal discharge syndrome.

  7. Syndromes with supernumerary teeth.

    Science.gov (United States)

    Lubinsky, Mark; Kantaputra, Piranit Nik

    2016-10-01

    While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth. Since, the cause of supernumerary teeth shows considerable heterogeneity, certain findings are less likely to be coincidental, such as five or more supernumerary teeth in a single patient, or locations outside of the premaxilla. We found only eight genetic syndromes with strong evidence for an association: cleidocranial dysplasia; familial adenomatous polyposis; trichorhinophalangeal syndrome, type I; Rubinstein-Taybi syndrome; Nance-Horan syndrome; Opitz BBB/G syndrome; oculofaciocardiodental syndrome; and autosomal dominant Robinow syndrome. There is also suggestive evidence of an association with two uncommon disorders, Kreiborg-Pakistani syndrome (craniosynostosis and dental anomalies), and insulin-resistant diabetes mellitus with acanthosisnigricans. An association of a Mendelian disorder with a low frequency manifestation of supernumerary teeth is difficult to exclude without large numbers, but several commonly cited syndromes lacked evidence for clear association, including Hallermann-Streiff syndrome, Fabry disease, Ehlers-Danlos syndrome, Apert and Crouzon syndromes, Zimmermann-Laband syndrome, and Ellis-van Creveld syndrome. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  8. Extracolonic Manifestations of Lynch Syndrome

    OpenAIRE

    Bansidhar, Brian J.

    2012-01-01

    Lynch syndrome has classically been defined by several predominant malignancies. Initial clinical criteria for diagnosis of Lynch syndrome would miss 40% of affected individuals. As time has passed, our understanding of Lynch syndrome has evolved and will continue to do so. The number of cancer types that are included in the Lynch phenotype is growing. This has allowed clinicians to redefine Lynch syndrome, at risk populations, screening needs, and diagnostic criteria. Inclusion of extracolon...

  9. Chromosome 15q24 microdeletion syndrome

    Directory of Open Access Journals (Sweden)

    Magoulas Pilar L

    2012-01-01

    Full Text Available Abstract Chromosome 15q24 microdeletion syndrome is a recently described rare microdeletion syndrome that has been reported in 19 individuals. It is characterized by growth retardation, intellectual disability, and distinct facial features including long face with high anterior hairline, hypertelorism, epicanthal folds, downslanting palpebral fissures, sparse and broad medial eyebrows, broad and/or depressed nasal bridge, small mouth, long smooth philtrum, and full lower lip. Other common findings include skeletal and digital abnormalities, genital abnormalities in males, hypotonia, behavior problems, recurrent infections, and eye problems. Other less frequent findings include hearing loss, growth hormone deficiency, hernias, and obesity. Congenital malformations, while rare, can be severe and include structural brain anomalies, cardiovascular malformations, congenital diaphragmatic hernia, intestinal atresia, imperforate anus, and myelomeningocele. Karyotypes are typically normal, and the deletions were detected in these individuals by array comparative genomic hybridization (aCGH. The deletions range in size from 1.7-6.1 Mb and usually result from nonallelic homologous recombination (NAHR between paralogous low-copy repeats (LCRs. The majority of 15q24 deletions have breakpoints that localize to one of five LCR clusters labeled LCR15q24A, -B, -C, -D, and -E. The smallest region of overlap (SRO spans a 1.2 Mb region between LCR15q24B to LCR15q24C. There are several candidate genes within the SRO, including CYP11A1, SEMA7A, CPLX3, ARID3B, STRA6, SIN3A and CSK, that may predispose to many of the clinical features observed in individuals with 15q24 deletion syndrome. The deletion occurred as a de novo event in all of the individuals when parents were available for testing. Parental aCGH and/or FISH studies are recommended to provide accurate genetic counseling and guidance regarding prognosis, recurrence risk, and reproductive options. Management

  10. 青萍在Pb、Cu污染水体植物修复中的应用研究%Study of duckweed(Lemna perpusilla Torr.) for use in phytoremediation of lead-and copper-contaminated water bodies

    Institute of Scientific and Technical Information of China (English)

    唐艳葵; 韦星任; 姚秋艳; 蓝梓铭; 李婷

    2011-01-01

    Duckweed(Lemna perpusilla Torr.) was used as experimental materials and several physiological responses of Lemna perpusilla Torr.,such as biomass growth,pigment contents,adsorption characteristics of heavy metals,nitrogen and phosphorus,to elevated concentrations of Pb(Ⅱ)(up to 40 mg/L) and Cu(Ⅱ)(up to 4 mg/L) were investigated.The results showed that high metal concentration might inhibit the growth of Lemna perpusilla Torr.Copper was found to be more toxic to plants than lead.It was demonstrated that exposure to high concentrations of lead and copper results in the high bioaccumulation of metals in Lemna perpusilla Torr.(26.09 mg/g of Pb in the plant grown in water with 40 mg/L Pb(Ⅱ) and 2.49 mg/g of Cu in the plant grown in water with 4 mg/L Cu(Ⅱ)).At these levels the plant growth was significantly inhibited and the plant pigment content significantly decreased.Also,a significant release of P and N was observed at these high levels of metal stress.The results of this study confirm that Lemna perpusilla Torr.is a suitable candidate for the phytoremediation in low-level lead-contaminated water bodies.%以青萍种浮萍(Lemna perpusilla Torr.)为实验材料,以Pb(Ⅱ)、Cu(Ⅱ)为染毒因子,设定金属离子浓度梯度(Pb(Ⅱ):0~40 mg/L,Cu(Ⅱ):0~4 mg/L),考察了在不同金属离子浓度下青萍生长状况、叶片色素含量以及金属离子浓度对青萍N、P和金属离子吸收能力的影响。结果表明:金属离子浓度的越高,青萍生长受抑制越严重;Cu(Ⅱ)对青萍的毒害大于Pb(Ⅱ);在Pb(Ⅱ)浓度为40 mg/L,Cu(Ⅱ)浓度为4 mg/L时,青萍对Pb(Ⅱ)和Cu(Ⅱ)的平均单位鲜重富集量分别为26.09 mg/g和2.49 mg/g,但同时,青萍的生长受到严重抑制,叶绿素含量急剧下降,且N、P从细胞中溶出。研究表明,青萍比较适宜修复被低浓度Pb(Ⅱ)污染的水体。

  11. Pendred's syndrome

    International Nuclear Information System (INIS)

    Hashmi, M.I.; Cheema, I.A.; Qasim, G.

    2003-01-01

    This report describes Pendred's syndrome in three siblings of a consanguineous marriage, belonging to Rahimyar Khan. The children presented with deafmutism and goiters. The investigations included scintigram, perchlorate discharge test and audiometery. The perchlorate discharge was positive in index case. Bilateral sensorineural hearing defect was detected on Pure Tone Average (PTA) audiometry. Meticulous clinical and laboratory evaluation is mandatory for the detection of rare disorders like Pendred's syndrome. (author)

  12. Prevalence of chlamydia, gonorrhoea, syphilis and trichomonas in Aboriginal and Torres Strait Islander Australians: a systematic review and meta-analysis.

    Science.gov (United States)

    Graham, Simon; Smith, Lucy Watchirs; Fairley, Christopher K; Hocking, Jane

    2016-04-01

    Higher notification rates of sexually transmissible infections (STIs) are reported among Aboriginal and Torres Strait Islander (Aboriginal) compared with non-Aboriginal people in Australia. The aim of this study is to estimate the pooled prevalence of chlamydia, gonorrhoea, syphilis and trichomonas among Aboriginal people in Australia by sex, age-group, setting (clinic vs population/community-based) and population group [adults, pregnant females, young people (12-29 years) and prisoners]. The databases Medline, PubMed and Web of Science were searched in May 2015. A meta-analysis was conducted to estimate the pooled prevalence of the four STIs in Aboriginal people and if possible, by gender, age-group, setting and population group. A total of 46 studies were included. The pooled prevalence was 11.2% (95%CI: 9.4-13.0%) for chlamydia (36 studies), 12.5% (95%CI: 10.5-14.6%) for gonorrhoea (28 studies), 16.8% (95%CI: 11.0-22.6%) for syphilis (13 studies) and 22.6% (95%CI: 18.5-26.7%) for trichomonas (11 studies); however, there was significant heterogeneity between studies (I(2) Aboriginal people through community-based programs that target asymptomatic young people.

  13. Healthy imaginations: a social history of the epidemiology of Aboriginal and Torres Strait Islander health.

    Science.gov (United States)

    Brough, M

    2001-01-01

    It is difficult to imagine Aboriginal and Torres Strait Islander health without the powerful descriptors of epidemiology. The statistical imagery of numerical tables, pie charts, and bar graphs have become a key element in the public presentation of Indigenous public health issues. Such quantitative measurements of health draw on the authority of neutral, objective science and are thus rarely questioned in terms of their social meaning. This paper traces the history of this imagery through the 20th century, providing a social account of epidemiological description. Historical notions such as social Darwinism, assimilation, and dangerous other are all seen to be woven into the epidemiological text. The enormous rise in the epidemiological description of Indigenous health problems in recent years needs to be analyzed as a social phenomenon and, in particular, as an aspect of emerging forms of governmentality. Finally, it is argued that such analyses are needed in order to promote an anthropology of epidemiology and to avoid limiting medical anthropology to applications within epidemiology.

  14. Prevalence of dry eye syndrome and Sjogren's syndrome in patients with rheumatoid arthritis.

    Science.gov (United States)

    Kosrirukvongs, Panida; Ngowyutagon, Panotsom; Pusuwan, Pawana; Koolvisoot, Ajchara; Nilganuwong, Surasak

    2012-04-01

    Rheumatoid arthritis has manifestations in various organs including ophthalmic involvement. The present study evaluates prevalence of dry eye and secondary Sjogren's syndrome using salivary scintigraphy which has not been used in previous reports. To evaluate the prevalence of secondary Sjogren's syndrome in patients with rheumatoid arthritis, including clinical characteristics and dry eye, compared with non-Sjogren's syndrome. Descriptive cross sectional study Sixty-one patients with rheumatoid arthritis were recruited at Siriraj Hospital during March 2009-September 2010 and filled in the questionnaires about dry eye for Ocular Surface Disease Index (OSDI) with a history taking of associated diseases, medications, duration of symptoms of dry eyes and dry mouth. The Schirmer I test without anesthesia, tear break-up time, rose bengal staining score, severity of keratitis and salivary scintigraphy were measured and analyzed. Prevalence of secondary Sjogren's syndrome and dry eye were 22.2% (95% CI 15.4 to 30.9) and 46.7% (95% CI 38.0 to 55.6), respectively. Dry eye interpreted from OSDI, Schirmer 1 test, tear break-up time and rose bengal staining was 16.4%, 46.7%, 82% and 3.3% respectively. Fifty-two percent of patients had a history of dry eye and dry mouth with mean duration 27.4 and 29.8 months, respectively. Superficial punctate keratitis and abnormal salivary scintigraphy were found in 58.2% and 77.8%. Duration of rheumatoid arthritis, erythrocyte sedimentation rate were not correlated with secondary Sjogren's syndrome. Dry eye from OSDI with secondary Sjogren's syndrome (33.3%) compared with non-Sjogren's syndrome (9.5%) was significant difference (p = 0.008). Adjusted odds ratio for secondary Sjogren's syndrome in OSDIL score > 25 was 13.8 (95% CI 2.6 to 73.8, p = 0.002) compared to OSDI score dry eye syndrome and secondary Sjogren's syndrome in rheumatoid arthritis was crucial for evaluation of their severity and proper management.

  15. Churg Strauss syndrome

    International Nuclear Information System (INIS)

    Lopez Rengifo, Diana Milena; Contreras Zuniga, Eduardo; Osio, Luis Fernando

    2007-01-01

    The Churg-Strauss syndrome, also called allergic granulomatosis and angiitis, is a multisystem disorder characterized by allergic rhinitis, asthma, and prominent peripheral blood eosinophilia. The most common organ involved is the lung, followed by the skin. The Churg-Strauss syndrome, however, can affect any organ system, including the cardiovascular, gastrointestinal, renal, and central nervous systems

  16. The Treaty of Naples. The closured of the Prince John Casimir and the Polish levy of Medina de las Torres (1638-1642 El Tratado de Nápoles. El encierro del príncipe JuanCasimiro y la leva de polacos de Medina de las Torres (1638-1642

    Directory of Open Access Journals (Sweden)

    Miguel Conde Pazos

    2012-03-01

    Full Text Available Throughout the seventeenth century, the Vasa of Poland and the Habsburg family established a series of contacts which would link to the Catholic Monarchy with the events in Eastern Europe. This article addresses a specific event of these relationships: the closure by the French of Prince Casimir on his way to Spain, and subse-quent negotiations between his half-brother, King Ladislaus IV, and the viceroy of Naples, the Duke of Medina de las Torres, to raise an army of punishment to free the prince. In this negotiation between Naples, Madrid, Vienna and Warsaw, the catholic king diplomacy interacted with leading personalities of the Polish court.Durante todo el siglo XVII los Vasa de Polonia y la familia Habsburgo establecieron una serie de contactos que vincularían a la Monarquía Católica con los acontecimientos de la Europa Oriental. El presente artículo trata un suceso concreto de estas relaciones: el encierro por parte de los franceses del príncipe Casimiro cuando se dirigía hacia España, y las ulteriores negociaciones entre su medio hermano, el rey Ladislao IV, y el virrey de Nápoles, el duque de Medina de las Torres, para levantar un ejército de castigo que liberara al príncipe. En esta negociación entre Nápoles, Madrid, Viena y Varsovia, la diplomacia del rey Católico interactuó con los más destacados personajes de la corte polaca.

  17. Bullous Wells’ syndrome

    Directory of Open Access Journals (Sweden)

    Bengu Cevirgen Cemil

    2016-01-01

    Full Text Available Wells’ syndrome (WS is an uncommon inflammatory skin disease which typically presents single or multiple erythematous and edematous urticarial plaques similar to cellulitis. The lesions may evolve into blue-grey morphea-like lesions and may persist for weeks or months. They ultimately heal without scar. Other clinical presentations reported in literature include papular and nodular and, rarely, bullous eruptions. Previously, bullous Wells’ syndrome was rarely reported in the literature. Herein, we describe a case of a female patient with bullous Wells’ syndrome localized to the upper limbs without any associated disorders.

  18. Combating Training-Stress Syndromes.

    Science.gov (United States)

    Voight, Mike

    2002-01-01

    Addresses the nature and ramifications of various training stress syndromes (overtraining, under-recovery, distress, staleness, and burnout) that can accompany inappropriate training practices, examining the interventions that players and coaches can use to combat these syndromes (including physical, psychological, and performance interventions),…

  19. Optimum design of a self-supported power transmission tower type 2M2 for 230 kW; Diseno optimo de una torre de transmision autosoportada tipo 2M2, para 230 kW

    Energy Technology Data Exchange (ETDEWEB)

    Espejel Valdez, Eduardo [Instituto de Investigaciones Electricas, Cuernavaca (Mexico); Millan Monje, Alejandro; Honk Hernandez, Wenceslao [Comision Federal de Electricidad, (CFE), Mexico, D. F. (Mexico)

    1986-12-31

    A group of specialists from the Comision Federal de Electricidad (CFE) and of the Instituto de Investigaciones Electricas (IIE) analyzes the design of various types of power transmission towers in their application stage, in order to enhance them. In this article the structural characteristics of the self-supported tower type 2M2 for 230 kV of two circuits and of suspension, are presented. [Espanol] Un grupo de especialistas de la Comision Federal de Electricidad (CFE) y del Instituto de Investigaciones Electricas (IIE) analiza el diseno de diversos tipos de torres de transmision en su etapa de aplicacion, con el fin de mejorarlos. En este articulo se presentan las caracteristicas estructurales de la torre autosoportada tipo 2M2 para 230 kV, de dos circuitos y de suspension.

  20. Optimum design of a self-supported power transmission tower type 2M2 for 230 kW; Diseno optimo de una torre de transmision autosoportada tipo 2M2, para 230 kW

    Energy Technology Data Exchange (ETDEWEB)

    Espejel Valdez, Eduardo [Instituto de Investigaciones Electricas, Cuernavaca (Mexico); Millan Monje, Alejandro; Honk Hernandez, Wenceslao [Comision Federal de Electricidad, (CFE), Mexico, D. F. (Mexico)

    1985-12-31

    A group of specialists from the Comision Federal de Electricidad (CFE) and of the Instituto de Investigaciones Electricas (IIE) analyzes the design of various types of power transmission towers in their application stage, in order to enhance them. In this article the structural characteristics of the self-supported tower type 2M2 for 230 kV of two circuits and of suspension, are presented. [Espanol] Un grupo de especialistas de la Comision Federal de Electricidad (CFE) y del Instituto de Investigaciones Electricas (IIE) analiza el diseno de diversos tipos de torres de transmision en su etapa de aplicacion, con el fin de mejorarlos. En este articulo se presentan las caracteristicas estructurales de la torre autosoportada tipo 2M2 para 230 kV, de dos circuitos y de suspension.

  1. Eosinophilic leukocytoclastic vasculitis - a spectrum ranging from Wells' syndrome to Churg-Strauss syndrome?

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Eisendle, Klaus; Zelger, Bernhard

    2014-01-01

    Wells' syndrome is defined as an inflammatory disorder with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Eosinophilic leukocytoclastic vasculitis shows eosinophilic infiltrates in combination with vasculitic changes. And Churg Strauss Syndrome comprises all three characteristics - eosinophilic infiltrates, vasculitis and flame figures. To determine whether these three diseases are distinct entities or different manifestations of a similar clinicopathologic process. Histopathological samples and clinical courses of 17 patients with eosinophilic infiltrates, flame figures and clinical features of Wells' syndrome were re-evaluated. Histopathologically, we focused on the presence or absence of vasculitic features. Clinically, we included only patients who were diagnosed with Wells' syndrome at least once in the course of their disease. 4 patients were finally diagnosed with Wells' syndrome, 5 with eosinophilic leukocytoclastic vasculitis and 6 with Churg Strauss syndrome. Further, we had one case of an overlap between Wells' syndrome and eosinophilic vasculitis and one case of Wegener granulomatosis. Vasculitic features were found in the samples of all patients. Histologically, we find vasculitic features in typical presentations of Wells' syndrome. Clinically, we find typical features of Wells' syndrome in patients finally diagnosed with eosinophilic leukocytoclastic vasculitis or Churg Strauss syndrome. Furthermore, we have observed and formerly reported 3 patients with progression from Wells' syndrome to Churg Strauss syndrome. Thus, we assume that eosinophilic leukocytoclastic vasculitis might form a bridge between Wells' syndrome and Churg Strauss syndrome.

  2. The Greig cephalopolysyndactyly syndrome

    Directory of Open Access Journals (Sweden)

    Biesecker Leslie G

    2008-04-01

    Full Text Available Abstract The Greig cephalopolysyndactyly syndrome (GCPS is a pleiotropic, multiple congenital anomaly syndrome. It is rare, but precise estimates of incidence are difficult to determine, as ascertainment is erratic (estimated range 1–9/1,000,000. The primary findings include hypertelorism, macrocephaly with frontal bossing, and polysyndactyly. The polydactyly is most commonly preaxial of the feet and postaxial in the hands, with variable cutaneous syndactyly, but the limb findings vary significantly. Other low frequency findings include central nervous system (CNS anomalies, hernias, and cognitive impairment. GCPS is caused by loss of function mutations in the GLI3 transcription factor gene and is inherited in an autosomal dominant pattern. The disorder is allelic to the Pallister-Hall syndrome and one form of the acrocallosal syndrome. Clinical diagnosis is challenging because the findings of GCPS are relatively non-specific, and no specific and sensitive clinical have been delineated. For this reason, we have proposed a combined clinical-molecular definition for the syndrome. A presumptive diagnosis of GCPS can be made if the patient has the classic triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, hypertelorism, and macrocephaly. Patients with a phenotype consistent with GCPS (but which may not manifest all three attributes listed above and a GLI3 mutation may be diagnosed definitively with GCPS. In addition, persons with a GCPS-consistent phenotype who are related to a definitively diagnosed family member in a pattern consistent with autosomal dominant inheritance may be diagnosed definitively as well. Antenatal molecular diagnosis is technically straightforward to perform. Differential diagnoses include preaxial polydactyly type 4, the GCPS contiguous gene syndrome, acrocallosal syndrome, Gorlin syndrome, Carpenter syndrome, and Teebi syndrome. Treatment of the disorder is symptomatic, with plastic or

  3. A case of Wolf-Hirschhorn syndrome and hypoplastic left heart syndrome.

    Science.gov (United States)

    von Elten, Kelley; Sawyer, Taylor; Lentz-Kapua, Sarah; Kanis, Adam; Studer, Matthew

    2013-06-01

    Wolf-Hirschhorn Syndrome (WHS) is a genetic syndrome that includes a typical facial appearance, mental retardation, growth delay, seizures, and congenital cardiac defects. A deletion of the terminal band of the short arm of chromosome 4, with a breakpoint at the 4p15 to 4p16 region, is the most common genetic mutation causing WHS. Congenital heart disease associated with WHS typically includes atrial and ventricular septal defects, though there are a few case reports of associated complex congenital heart disease. Here we report a case of an infant with a large 4p deletion, with a breakpoint at the 4p12 region, and hypoplasic left heart syndrome. We discuss a possible link between the size of the chromosomal deletion in WHS and the severity of the cardiac defect.

  4. Senior-loken syndrome in a Saudi child

    International Nuclear Information System (INIS)

    Al-Fadhel, M.; Al-Amir, A.

    2008-01-01

    Senior-loken syndrome is a rare syndrome of retinopathy and nephronophthisis. The clinical features of this syndrome include renal involvement, ocular involvement, retinitis pigmentosa and other systemic involvement. We describe an 11- year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from Arabian Peninsula. (author)

  5. Molecular defects of the growth hormone receptor gene, including a new mutation, in Laron syndrome patients in Israel: relationship between defects and ethnic groups.

    Science.gov (United States)

    Shevah, Orit; Rubinstein, Menachem; Laron, Zvi

    2004-10-01

    Laron Syndrome, first described in Israel, is a form of dwarfism similar to isolated growth hormone deficiency caused by molecular defects in the GH receptor gene. To characterize the molecular defects of the GH-R in Laron syndrome patients followed in our clinic. Of the 63 patients in the cohort, we investigated 31 patients and 32 relatives belonging to several ethnic origins. Molecular analysis of the GH-R gene was performed using the single strand conformation polymorphism and DNA sequencing techniques. Eleven molecular defects including a novel mutation were found. Twenty-two patients carried mutations in the extracellular domain, one in the transmembrane domain, and 3 siblings with typical Laron syndrome presented a normal GH-R. Of interest are, on one hand, different mutations within the same ethnic groups: W-15X and 5, 6 exon deletion in Jewish-Iraqis, and E180 splice and 5, 6 exon deletion in Jewish-Moroccans; and on the other hand, identical findings in patients from distinct regions: the 785-1 G to T mutation in an Israeli-Druze and a Peruvian patient. A polymorphism in exon 6, Gly168Gly, was found in 15 probands. One typical Laron patient from Greece was heterozygous for R43X in exon 4 and heterozygous for Gly168Gly. In addition, a novel mutation in exon 5: substitution of T to G replacing tyrosine 86 for aspartic acid (Y86D) is described. This study demonstrates: a) an increased focal incidence of Laron syndrome in different ethnic groups from our area with a high incidence of consanguinity; and b) a relationship between molecular defects of the GH-R, ethnic group and geographic area.

  6. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer

    Science.gov (United States)

    Carethers, John M; Stoffel, Elena M

    2015-01-01

    Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. PMID:26309352

  7. Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer.

    Science.gov (United States)

    Carethers, John M; Stoffel, Elena M

    2015-08-21

    Hereditary non-polyposis colorectal cancer (HNPCC) was previously synonymous with Lynch syndrome; however, identification of the role of germline mutations in the DNA mismatch repair (MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer (CRC). Broadly, HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability (MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome (germline MMR mutation), Lynch-like syndrome (biallelic somatic MMR mutations), constitutional MMR deficiency syndrome (biallelic germline MMR mutations), and sporadic MSI CRC (somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions, others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management.

  8. Translators and teachers of languages: grammars and vocabularies, Francisco de la Torre y Ocón (1728-1731

    Directory of Open Access Journals (Sweden)

    M.ª del Carmen CAZORLA VIVAS

    2013-03-01

    Full Text Available The 18th Century has not been studied in depth by experts on Historical Linguistics. However, this is a fruitful and important period in the history of dictionaries as far as lexicography is concerned. The present paper focuses on the lexicographer and translator Francisco de la Torre y Ocón (1660-1725 and his work El maestro de las dos lenguas. Diccionario español y francés en dos tomos. (1726-1728. The work by this renowned author will be analyzed within the framework of its historical and linguistic period (first half of the 18th Century. His approach to lexicography will be similarly analyzed with the aim of contributing to a better understanding of bilingual (French-Spanish lexicography.

  9. Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

    Science.gov (United States)

    Aoki, Yoko; Niihori, Tetsuya; Banjo, Toshihiro; Okamoto, Nobuhiko; Mizuno, Seiji; Kurosawa, Kenji; Ogata, Tsutomu; Takada, Fumio; Yano, Michihiro; Ando, Toru; Hoshika, Tadataka; Barnett, Christopher; Ohashi, Hirofumi; Kawame, Hiroshi; Hasegawa, Tomonobu; Okutani, Takahiro; Nagashima, Tatsuo; Hasegawa, Satoshi; Funayama, Ryo; Nagashima, Takeshi; Nakayama, Keiko; Inoue, Shin-Ichi; Watanabe, Yusuke; Ogura, Toshihiko; Matsubara, Yoichi

    2013-07-11

    RAS GTPases mediate a wide variety of cellular functions, including cell proliferation, survival, and differentiation. Recent studies have revealed that germline mutations and mosaicism for classical RAS mutations, including those in HRAS, KRAS, and NRAS, cause a wide spectrum of genetic disorders. These include Noonan syndrome and related disorders (RAS/mitogen-activated protein kinase [RAS/MAPK] pathway syndromes, or RASopathies), nevus sebaceous, and Schimmelpenning syndrome. In the present study, we identified a total of nine missense, nonsynonymous mutations in RIT1, encoding a member of the RAS subfamily, in 17 of 180 individuals (9%) with Noonan syndrome or a related condition but with no detectable mutations in known Noonan-related genes. Clinical manifestations in the RIT1-mutation-positive individuals are consistent with those of Noonan syndrome, which is characterized by distinctive facial features, short stature, and congenital heart defects. Seventy percent of mutation-positive individuals presented with hypertrophic cardiomyopathy; this frequency is high relative to the overall 20% incidence in individuals with Noonan syndrome. Luciferase assays in NIH 3T3 cells showed that five RIT1 alterations identified in children with Noonan syndrome enhanced ELK1 transactivation. The introduction of mRNAs of mutant RIT1 into 1-cell-stage zebrafish embryos was found to result in a significant increase of embryos with craniofacial abnormalities, incomplete looping, a hypoplastic chamber in the heart, and an elongated yolk sac. These results demonstrate that gain-of-function mutations in RIT1 cause Noonan syndrome and show a similar biological effect to mutations in other RASopathy-related genes. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  10. The "ripple effect": Health and community perceptions of the Indigenous Marathon Program on Thursday Island in the Torres Strait, Australia.

    Science.gov (United States)

    Macniven, Rona; Plater, Suzanne; Canuto, Karla; Dickson, Michelle; Gwynn, Josephine; Bauman, Adrian; Richards, Justin

    2018-02-19

    Physical inactivity is a key health risk among Aboriginal and Torres Strait Islander (Indigenous) Australians. We examined perceptions of the Indigenous Marathon Program (IMP) in a remote Torres Strait island community. Semi-structured interviews with community and program stakeholders (n = 18; 14 Indigenous) examined barriers and enablers to running and the influence of the IMP on the community. A questionnaire asked 104 running event participants (n = 42 Indigenous) about their physical activity behaviours, running motivation and perceptions of program impact. Qualitative data were analysed using thematic content analysis, and quantitative data were analysed using descriptive statistics. Interviews revealed six main themes: community readiness, changing social norms to adopt healthy lifestyles, importance of social support, program appeal to hard-to-reach population groups, program sustainability and initiation of broader healthy lifestyle ripple effects beyond running. Barriers to running in the community were personal (cultural attitudes; shyness) and environmental (infrastructure; weather; dogs). Enablers reflected potential strategies to overcome described barriers. Indigenous questionnaire respondents were more likely to report being inspired to run by IMP runners than non-Indigenous respondents. Positive "ripple" effects of the IMP on running and broader health were described to have occurred through local role modelling of healthy lifestyles by IMP runners that reduced levels of "shame" and embarrassment, a common barrier to physical activity among Indigenous Australians. A high initial level of community readiness for behaviour change was also reported. SO WHAT?: Strategies to overcome this "shame" factor and community readiness measurement should be incorporated into the design of future Indigenous physical activity programs. © 2018 Australian Health Promotion Association.

  11. Comparative validation of self-report measures of negative attitudes towards Aboriginal Australians and Torres Strait Islanders.

    Science.gov (United States)

    Skinner, Timothy C; Blick, Julie; Coffin, Juli; Dudgeon, Pat; Forrest, Simon; Morrison, David

    2013-01-01

    This study sought to determine the construct validity of two self-report measures of attitudes towards Aboriginal Australians and Torres Strait Islanders against an implicit measure of attitude. Total of 102 volunteer participants completed the three measures in a randomized order. The explicit measures of prejudice towards Aboriginal Australians were the Modern Racism Scale (MRS) and the Attitudes Towards Indigenous Australians Scale (ATIAS). The implicit attitudes measure was an adaptation of the Implicit Association Test (IAT) and utilised simple drawn head-and-shoulder images of Aboriginal Australians and White Australians as the stimuli. Both explicit measures and implicit measure varied in the extent to which negative prejudicial attitudes were held by participants, and the corresponding construct validities were unimpressive. The MRS was significantly correlated with the IAT, (r =.314;pAboriginal Australians, only the MRS evidenced validity when compared with the use of an implicit attitude measure.

  12. Cerebral arteriovenous malformation in Noonan's syndrome.

    OpenAIRE

    Schon, F.; Bowler, J.; Baraitser, M.

    1992-01-01

    Noonan's syndrome involves the association of multiple congenital abnormalities including neck webbing, pectus excavatum, facial anomalies with a variety of cardiac defects. In this paper the association of Noonan's syndrome with a large cerebral arteriovenous malformation is reported. Congenital cerebrovascular abnormalities are not a recognized feature of the syndrome. The paper also reviews previous reports of neurological associations with Noonan's syndrome, the commonest being mild intel...

  13. Management of moyamoya syndrome in patients with Noonan syndrome.

    Science.gov (United States)

    Gupta, Mihir; Choudhri, Omar A; Feroze, Abdullah H; Do, Huy M; Grant, Gerald A; Steinberg, Gary K

    2016-06-01

    A few isolated reports have described an association between Noonan syndrome and cerebrovascular abnormalities, including moyamoya syndrome. These reports have been limited to pediatric patients presenting with recurrent transient ischemic attacks (TIA) or headaches. Management has primarily been pharmacologic, with only one prior report of surgical revascularization to our knowledge. We report four cases of Noonan syndrome patients presenting with headaches and/or sensorimotor strokes in childhood that caused unilateral sensorimotor impairment. Cerebral angiography and MRI revealed bilateral moyamoya syndrome. All patients underwent successful bilateral extracranial-to-intracranial revascularization. The first patient was a 10-year-old girl who presented following a hemorrhagic stroke and recovered well after indirect bypass. The second patient was an adult with a history of childhood stroke whose symptoms progressed in adulthood. She underwent a direct bypass and improved, but continued to experience TIA at her 4 year follow-up. The third patient was a 7-year-old girl with headaches and a new onset TIA who failed pharmacological therapy and subsequently underwent bilateral indirect bypass. The fourth patient was a 24-year-old woman with worsening headaches and an occluded left middle cerebral artery from unilateral moyamoya syndrome. A left sided direct bypass was completed given delayed MRI perfusion with poor augmentation. To our knowledge these are the first reported surgical cases of combined Noonan and moyamoya syndrome. These cases highlight the need to recognize moyamoya syndrome in patients with Noonan syndrome. Early surgical revascularization should be pursued in order to prevent symptom progression. Copyright © 2015 Elsevier Ltd. All rights reserved.

  14. Senior-Loken Syndrome in a Saudi Child

    Directory of Open Access Journals (Sweden)

    AlFadhel Majid

    2008-01-01

    Full Text Available Senior-Loken syndrome is a rare syndrome of retinopathy and nephrono-phthisis. The clinical features of this syndrome include renal involvement, ocular involve-ment, retinitis pigmentosa and other systemic involvement. We describe an 11-year-old Saudi girl who was diagnosed to have this syndrome. To the best of our knowledge, this is the first report of this syndrome from the Arabian Peninsula.

  15. Interaction Between Syndromic and Non-Syndromic Factors Affecting Speech and Language Development in Treacher-Collins Syndrome

    Directory of Open Access Journals (Sweden)

    Marziyeh Poorjavad

    2011-09-01

    Full Text Available Background: Treacher-Collins syndrome is a congenital craniofacial disorder with multiple anomalies. This syndrome affects the maxilla, mandible, eyes, middle and outer ears, and soft palate. Conductive hearing loss due to the deformities of the middle and external ears is prevalent. The characteristics of this syndrome include multiple and serious threats to normal communication development in children. In this study, speech and language features of a Persian speaking child with this syndrome are presented.Case: The case was an 8-year old girl with Treacher-Collins syndrome and bilateral moderate conductive hearing loss due to atretic canal. In language and speech assessments, moderate hypernasality, numerous compensatory errors and morphosyntactic deficits were observed. There were 13 phonemes that were incorrectly produced at least in one position. Besides, she used 22 types of phonological processes that were abnormal and disappear before the age of three in normal Persian speaking children.Conclusion: Moderate hearing loss, velopharyngeal incompetency, malocclusion and dental anomalies, attention deficit/hyperactivity disorder (ADHD and environmental factors resulted in severe speech and language disorders in this case. These disorders affected her academic performance as well. Moderate hypernasality, numerous compensatory errors, and excessive and abnormal use of phonological processes were not presented as prevalent characteristics of Treacher-Collins syndrome in other resources.

  16. Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome

    Directory of Open Access Journals (Sweden)

    Irene Berges-Raso

    2017-09-01

    Full Text Available Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Kallmann syndrome can be associated with X-linked ichthyosis, a skin disorder characterized by early onset dark, dry, irregular scales affecting the limb and trunk, caused by a defect of the steroid sulfatase gene (STS. Both KAL1 and STS are located in the Xp22.3 region; therefore, deletions in this region cause a contiguous gene syndrome. We report the case of a 32-year-old man with ichthyosis referred for evaluation of excessive height (2.07 m and weight (BMI: 29.6 kg/m2, microgenitalia and absence of secondary sex characteristics. We diagnosed Kallmann syndrome with ichthyosis due to a deletion in Xp22.3, a rare phenomenon.

  17. Implementación del programa, tenencia responsable y cuidado canino de la comunidad Torres de San Borja – Moche – Trujillo – Perú

    OpenAIRE

    Cueva Urra, Marlies Alicia; Castillo Sevillano, María Fernanda; Castro Zelada, Kory Katherine; Gonzáles Flores, Leila Xiomara; Huamanchumo Morales, Olenka; Montañez Huamanchumo, Marielly; Paredes Paredes, Cristian; Rivera Urbina, Arturo Javier; Rodríguez Ramírez, Kelvin

    2017-01-01

    RESUMEN Se ejecutó un programa de responsabilidad social el cual se denominó “IMPLEMENTACIÓN DE UN PROGRAMA PARA EL CUIDADO CANINO DE LA COMUNIDAD DEL ASENTAMIENTO HUMANO LAS TORRES DE SAN BORJA”, el cual se llevó a cabo junto con los pobladores de la comunidad, con el fin de brindar charlas sobre temas como: tenencia responsable de mascotas, enfermedades transmitidas por las mascotas y concientización del cuidado animal; estas charlas tuvieron como...

  18. Microanálise de longa duração em demografia urbana: Santa Maria de Torres Vedras entre os séculos XVII e XX» [em linha]. In: X Congresso da Associação de Demografia Histórica

    OpenAIRE

    Silva, Carlos Guardado da; Amorim, Maria Norberta; Silva, Paula Correia da

    2013-01-01

    Com objetivo de pontuar o país, no projeto Espaços Urbanos. Dinâmicas demográficas e sociais (séculos XVII a XX), coordenado por Carlota Santos, partindo-se de uma investigação já em curso sobre cidades do Norte de Portugal e nas Ilhas, optou-se pela incidência sobre uma cidade do Centro, Torres Vedras. No que respeita a Torres Vedras, gerou-se uma oportunidade de convergência de interesses entre investigadores e autarquia, iniciando-se um ambicioso projeto de reconstituição integrada das ...

  19. Plummer-Vinson syndrome

    Directory of Open Access Journals (Sweden)

    Novacek Gottfried

    2006-09-01

    Full Text Available Abstract Plummer-Vinson or Paterson-Kelly syndrome presents as a classical triad of dysphagia, iron-deficiency anemia and esophageal webs. Exact data about epidemiology of the syndrome are not available; the syndrome is extremely rare. Most of the patients are white middle-aged women, in the fourth to seventh decade of life but the syndrome has also been described in children and adolescents. The dysphagia is usually painless and intermittent or progressive over years, limited to solids and sometimes associated with weight loss. Symptoms resulting from anemia (weakness, pallor, fatigue, tachycardia may dominate the clinical picture. Additional features are glossitis, angular cheilitis and koilonychia. Enlargement of the spleen and thyroid may also be observed. One of the most important clinical aspects of Plummer-Vinson syndrome is the association with upper alimentary tract cancers. Etiopathogenesis of Plummer-Vinson syndrome is unknown. The most important possible etiological factor is iron deficiency. Other possible factors include malnutrition, genetic predisposition or autoimmune processes. Plummer-Vinson syndrome can be treated effectively with iron supplementation and mechanical dilation. In case of significant obstruction of the esophageal lumen by esophageal web and persistent dysphagia despite iron supplementation, rupture and dilation of the web are necessary. Since Plummer-Vinson syndrome is associated with an increased risk of squamous cell carcinoma of the pharynx and the esophagus, the patients should be followed closely.

  20. POLYCYSTIC OVARY SYNDROME IN ADOLESCENCE

    Directory of Open Access Journals (Sweden)

    Diana Baptista

    2017-02-01

    Conclusion: Identification of adolescents at risk for Polycystic Ovary Syndrome is critical, not only for an appropriate therapeutic approach, but also to prevent co-morbidities associated with the syndrome, including obesity, insulin resistance, dyslipidemia and infertility.

  1. Ehlers-Danlos syndrome

    Directory of Open Access Journals (Sweden)

    Wakhloo Tulika

    2015-01-01

    Full Text Available Ehlers-Danlos syndrome is a group of clinically and genetically heterogeneous inherited connective tissue disorders with widespread manifestations. The prevalence of this syndrome is 1:5000 worldwide without gender, racial or ethnic associations. This syndrome is characterized by joint hypermobility, dermal hyperelasticity and tissue fragility caused by mutations in genes encoding collagen type I, III, V and enzymes involved in the posttranslational modifications of collagen. The oral manifestations include increased mucosal fragility, delayed wound healing, early onset generalized periodontitis and temporomandibular joint hypermobility. Children presenting with this syndrome are often misdiagnosed for hematological problem as they present with bruising, malignancy and/or child abuse. A thorough assessment of the patient is, therefore, essential for early diagnosis and patient referral. This paper reviews current literature, oral manifestations, diagnostic investigations and effective dental management.

  2. Metabolic syndrome and cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Abdullah M Alshehri

    2010-01-01

    Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

  3. Metabolic syndrome and cardiovascular risk

    Directory of Open Access Journals (Sweden)

    Abdullah M Alshehri

    2010-11-01

    Full Text Available The constellation of dyslipidemia (hypertriglyceridemia and low levels of high-density lipoprotein cholesterol, elevated blood pressure, impaired glucose tolerance, and central obesity is now classified as metabolic syndrome, also called syndrome X. In the past few years, several expert groups have attempted to set forth simple diagnostic criteria for use in clinical practice to identify patients who manifest the multiple components of the metabolic syndrome. These criteria have varied somewhat in specific elements, but in general, they include a combination of multiple and metabolic risk factors. The most widely recognized of the metabolic risk factors are atherogenic dyslipidemia, elevated blood pressure, and elevated plasma glucose. Individuals with these characteristics, commonly manifest a prothrombotic state as well as and a proinflammatory state. Atherogenic dyslipidemia consists of an aggregation of lipoprotein abnormalities including elevated serum triglyceride and apolipoprotein B (apoB, increased small LDL particles, and a reduced level of HDL cholesterol (HDL-C. The metabolic syndrome is often referred to as if it were a discrete entity with a single cause. Available data suggest that it truly is a syndrome, ie, a grouping of atherosclerotic cardiovascular disease (ASCVD risk factors, that probably has more than one cause. Regardless of cause, the syndrome identifies individuals at an elevated risk for ASCVD. The magnitude of the increased risk can vary according to the components of the syndrome present as well as the other, non-metabolic syndrome risk factors in a particular person.

  4. Investigation of coupling between chemistry and discharge dynamics in radio frequency hydrogen plasmas in the Torr regime

    International Nuclear Information System (INIS)

    Kalache, B; Novikova, T; Morral, A Fontcuberta i; Cabarrocas, P Roca i; Morscheidt, W; Hassouni, K

    2004-01-01

    We present the results of a study of a capacitively coupled hydrogen discharge by means of a one-dimensional numerical fluid model and experiments. The model includes a detailed description of the gas-phase chemistry taking into account the production of H - ions by dissociative attachment of H 2 vibrational levels. The population of these levels is described by a Boltzmann vibrational distribution function characterized by a vibrational temperature T V . The effect of the dissociative-attachment reaction on the discharge dynamics was investigated by varying the vibrational temperature, which was used as a model input parameter. Increasing the vibrational temperature from 1000 to 6000 K affects both the chemistry and the dynamics of the electrical discharge. Because of dissociative attachment, the H - ion density increases by seven orders of magnitude and the H - ion density to electron density ratio varies from 10 -7 to 6, while the positive ion density increases slightly. As a consequence, the atomic hydrogen density increases by a factor of three, and the sheath voltage drops from 95 to 75 V. Therefore, clear evidence of a strong coupling between chemistry and electrical dynamics through the production of H - ions is demonstrated. Moreover, satisfactory agreement between computed and measured values of atomic hydrogen and H - ion densities gives further support to the requirement of a detailed description of the hydrogen vibrational kinetics for capacitively coupled radio frequency discharge models in the Torr regime

  5. Candidate gene association studies in syndromic and non-syndromic cleft lip and palate

    Energy Technology Data Exchange (ETDEWEB)

    Daack-Hirsch, S.; Basart, A.; Frischmeyer, P. [Univ. of Iowa, IA (United States)] [and others

    1994-09-01

    Using ongoing case ascertainment through a birth defects registry, we have collected 219 nuclear families with non-syndromic cleft lip and/or palate and 111 families with a collection of syndromic forms. Syndromic cases include 24 with recognized forms and 72 with unrecognized syndromes. Candidate gene studies as well as genome-wide searches for evidence of microdeletions and isodisomy are currently being carried out. Candidate gene association studies, to date, have made use of PCR-based polymorphisms for TGFA, MSX1, CLPG13 (a CA repeat associated with a human homologue of a locus that results in craniofacial dysmorphogenesis in the mouse) and an STRP found in a Van der Woude syndrome microdeletion. Control tetranucleotide repeats, which insure that population-based differences are not responsible for any observed associations, are also tested. Studies of the syndromic cases have included the same list of candidate genes searching for evidence of microdeletions and a genome-wide search using tri- and tetranucleotide polymorphic markers to search for isodisomy or structural rearrangements. Significant associations have previously been identified for TGFA, and, in this report, identified for MSX1 and nonsyndromic cleft palate only (p = 0.04, uncorrected). Preliminary results of the genome-wide scan for isodisomy has returned no true positives and there has been no evidence for microdeletion cases.

  6. Meckel Gruber Syndrome: A Case Report

    Directory of Open Access Journals (Sweden)

    Celal Devecioglu

    2004-01-01

    Full Text Available Meckel-Gruber syndrome is an autosomal recessive disordercharacterized by a combination of renal cysts and variably associatedfeatures including developmental anomalies of the central nervous system(typically encephalocele, hepatic ductal dysplasia and cysts, andpolydactyly. n this cases AFP levels are increases. Alternative names areMeckel Syndrome, Dysencephalia Splanchnocystica, Gruber Syndrome andMeckel – Gruber Syndrome. This study is presented to draw attention to theMeckel Gruber Syndrome which seen rarely, have high risk of reccurenceand antenathal determination of AFP levels and early diagnosis byultrasonographic screening can be confident.

  7. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

    Science.gov (United States)

    Yu, Yongguo; Yao, RuEn; Wang, Lili; Fan, Yanjie; Huang, Xiaodong; Hirschhorn, Joel; Dauber, Andrew; Shen, Yiping

    2015-09-16

    Human height is a complex trait with a strong genetic basis. Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. Based on a case-control study of whole genome chromosome microarray analysis (CMA), three overlapping CNVs were identified in patients with developmental disorders who exhibited short stature. ARID1B, a causal gene for Coffin Siris syndrome, is the only gene encompassed by all three CNVs. A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population.

  8. Latah: an Indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    2013-01-01

    The nature of culture-specific startles syndromes such as "Latah" in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  9. Latah : An indonesian startle syndrome

    NARCIS (Netherlands)

    Bakker, Mirte J.; van Dijk, J. Gert; Pramono, Astuti; Sutarni, Sri; Tijssen, Marina A. J.

    The nature of culture-specific startles syndromes such as Latah in Indonesia and Malaysia is ill understood. Hypotheses concerning their origin include sociocultural behavior, psychiatric disorders, and neurological syndromes. The various disorders show striking similarities despite occurring in

  10. A case of Cronkhite-Canada syndrome

    International Nuclear Information System (INIS)

    Hirohama, Shigeo; Soedjaro; Machida, Takashi

    1985-01-01

    A 75-year-old woman with Cronkhite-Canada syndrome underwent computed tomography (CT) and ultrasonography (US). CT and US provided useful information on pathologic conditions, including edema of the digestive mucosa, which characterize this syndrome. Clinical analysis of this syndrome in 77 Japanese cases reported in the literature was presented. (Namekawa, K.)

  11. Brugada Syndrome in a Patient with Vascular Ehlers-Danlos Syndrome: Sudden Death Risk Amplified.

    Science.gov (United States)

    D'Souza, Jason; Malhotra, Divyanshu; Goud, Aditya; Dahagam, Chanukya; Everett, George

    2017-04-19

    The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome. Both these conditions share some common clinical presentations including a propensity for sudden death.

  12. [Severe rhabdomyolysis syndrome in the course of alcohol withdrawal syndrome and hyponatremia].

    Science.gov (United States)

    Majewska, Magdalena; Tchórz, Michał; Szponar, Jarosław; Radoniewicz-Chagowska, Anna; Kołodziej, Małgorzata

    2012-01-01

    Rhabdomyolysis and associated kidney failure is a medical problem, often faced by doctors working in the centers of toxicology. Its most common cause is mechanical damage to the muscles, but predisposing factors include a big group of other pathologies and clinical conditions, including: electrolyte imbalance, immobility, infections, drug or psychoactive substances poisoning. The article presents an example of a patient with severe rhabdomyolysis syndrome caused by an alcohol withdrawal syndrome. Based on our experience and scientific studies of other clinical centres the paper presents various causes of muscle damage, including the iatrogenic effects of ethanol intoxication treatment. The article explains the importance of a proper and quick treatment which prevents damage of internal organs, including kidney failure.

  13. An Application of the Sugar-Potassium Chlorate Reaction

    Science.gov (United States)

    Ault, Addison

    2001-08-01

    Muir later said that "Although I was four years at the University, I did not take the regular course of studies, but instead picked out what I thought would be most useful to me, particularly chemistry, which opened a new world, and mathematics and physics, a little Greek and Latin, botany, and geology." Literature Cited Eliason, R.; Lee, E. J.; Wakefield, D.; Bergren, A. J. Chem. Educ. 2000, 77, 1581-1583. Muir, J. The Story of My Boyhood and Youth; Sierra Club Books: San Francisco, 1989; pp 154, 155.

  14. Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair.

    Science.gov (United States)

    Choi, Jin-Ho; Oh, Moon-Yeon; Yum, Mi-Sun; Lee, Beom Hee; Kim, Gu-Hwan; Yoo, Han-Wook

    2015-03-01

    Noonan-like syndrome with loose anagen hair is one of the RASopathies characterized by Noonan syndrome-like features with unique ectodermal abnormalities. This syndrome is caused by mutations in the SHOC2 gene. We encountered a patient with moyamoya syndrome associated with Noonan-like syndrome with loose anagen hair presenting with transient ischemic attacks. A 6-year-old girl was diagnosed with Noonan-like syndrome with loose anagen hair because of profound short stature and ectodermal anomalies such as sparse and easily pluckable hair. A heterozygous mutation of c.4A>G (p.S2G) in the SHOC2 gene was identified, and recombinant human growth hormone therapy was initiated at 8 years of age. At age 10, she manifested recurrent left hemiplegia. Moreover, cerebrovascular imaging revealed occlusion or narrowing of both internal carotid arteries and both middle cerebral arteries with distal moyamoya-like vessels. She is treated with aspirin and calcium channel blocker. We describe the first case of Noonan-like syndrome with loose anagen hair associated with moyamoya syndrome, although it has been reported to be associated with a few cases of other RASopathies, including Noonan, cardiofaciocutaneous, and Costello syndromes. This report emphasizes the associations between cerebrovascular anomalies and Noonan-like syndrome with loose anagen hair. Copyright © 2015 Elsevier Inc. All rights reserved.

  15. La adaptación de la forma a las cargas en el arte estructural: desde las pilas y el arco, a la torre

    Directory of Open Access Journals (Sweden)

    Serrano-López, R.

    2014-06-01

    Full Text Available The shape of the Eiffel Tower has been discussed several times, seeking for physical and mathematical relationships. This article aims to address this analysis from a different point of view: the historical and sequential evolution of design over the course of the Eiffel company. Thus, the relationship between the experience gained in different works and technicians can be verified. The paper also tries to give merit to work of all the collaborators of Eiffel over those years. In short, the final solution of the Tower is contrasted and corroborated as a great example of structural art, as has been described in the past.La forma de la Torre Eiffel ha sido varias veces analizada, buscando relaciones físicas y matemáticas. Este artículo pretende abordar este análisis desde un punto de vista diferente, la evolución histórica y secuencial del diseño a lo largo de la trayectoria de la empresa de Eiffel. De esta manera, puede comprobarse la relación entre la experiencia acumulada en diferentes obras y técnicos. Se intenta además atribuir los méritos que corresponden a todos los colaboradores de Eiffel a lo largo de esos años. En definitiva, se contrasta y corrobora de esta manera a la solución final de la Torre como un magnífico ejemplo de arte estructural, como ya ha sido descrito en otras ocasiones.

  16. Paraneoplastic syndromes and autoimmune encephalitis

    Science.gov (United States)

    Rosenfeld, Myrna R.; Titulaer, Maarten J.

    2012-01-01

    Summary We review novel findings in paraneoplastic syndromes including the Lambert-Eaton myasthenic syndrome, and then focus on the novel disorders associated with antibodies against cell surface antigens, discussing the importance and caveats of antibody testing, and providing an algorithm for interpretation of results. In anti-NMDAR encephalitis 2 novel findings include the recognition of a characteristic EEG pattern (“extreme delta brush”) in 30% of patients and the demonstration of a fronto-temporo-occipital gradient of glucose metabolism that correlates with disease activity. In limbic encephalitis, antibodies to GABA(B) receptor are the most frequently detected in patients with small-cell lung cancer who are anti-Hu negative, and antibodies to mGluR5 distinctively associate with Hodgkin lymphoma (Ophelia syndrome). We also address the syndromes associated with “VGKC-complex antibodies,” a problematic term that groups well-characterized immune-mediated disorders (LGI1, Caspr2) with others that lack syndrome specificity, are less responsive to treatment, and for which the target antigens are unknown. PMID:23634368

  17. Mobious syndrome: MR findings

    Directory of Open Access Journals (Sweden)

    Maskal Revanna Srinivas

    2016-01-01

    Full Text Available Möbius syndrome is an extremely rare congenital disorder. We report a case of Möbius syndrome in a 2-year-old girl with bilateral convergent squint and left-sided facial weakness. The characteristic magnetic resonance imaging (MRI findings of Möbius syndrome, which include absent bilateral abducens nerves and absent left facial nerve, were noted. In addition, there was absence of left anterior inferior cerebellar artery (AICA and absence of bilateral facial colliculi. Clinical features, etiology, and imaging findings are discussed.

  18. Biochemical Manifestation of HIV Lipodystrophy Syndrome.

    Science.gov (United States)

    Ihenetu, Kenneth; Mason, Darius

    2012-01-01

    Highly active anti-retroviral therapy (HAART), including protease inhibitors (PI) have led to dramatic improvements in the quality and quantity of life in patients with acquired immunodeficiency syndrome (AIDS). However, a significant number of AIDS patients on HAART develop characteristic changes in body fat redistribution referred to as lipodystrophy syndrome (LDS). Features of LDS include hypertrophy in the neck fat pad (buffalo hump), increased fat in the abdominal region (protease paunch), gynecomastia and loss of fat in the mid-face and extremities. The aim of this paper is to review the current knowledge regarding this syndrome. This article reviews the published investigations on biochemical manifestation of HIV lipodystrophy syndrome. It is estimated that approximately 64% of patients treated with PI will experience this syndrome. Biochemically, these patients have increased triglycerides (Trig), total cholesterol (TC), low-density lipoprotein-cholesterol (LDL-C) and extremely low high-density lipoprotein-cholesterol (HDL-C). It is hoped that awareness of this syndrome would aid in early diagnosis and better patient management, possibly leading to a lower incidence of cardiovascular complications among these patients.

  19. Short-lasting headache syndromes and treatment options.

    Science.gov (United States)

    Rozen, Todd D

    2004-08-01

    A number of primary headache syndromes are marked by their short duration of pain. Many of these syndromes have their own unique treatment, so they must be recognized by practicing physicians. In this article, a number of the short-lasting headache disorders are reviewed, including chronic paroxysmal hemicrania, SUNCT syndrome, hypnic headache, exploding head syndrome, primary stabbing headache, and cough headache.

  20. Mind the gap: What is the difference between alcohol treatment need and access for Aboriginal and Torres Strait Islander Australians?

    Science.gov (United States)

    Brett, Jonathan; Lee, K S Kylie; Gray, Dennis; Wilson, Scott; Freeburn, Bradley; Harrison, Kristie; Conigrave, Katherine

    2016-07-01

    Alcohol-related harms cause great concern to Aboriginal and Torres Strait Islander (Indigenous) communities in Australia as well as challenges to policy makers. Treatment of alcohol use disorders forms one component of an effective public health response. While alcohol dependence typically behaves as a chronic relapsing condition, treatment has been shown to be both effective and cost-effective in improving outcomes. Provision of alcohol treatment services should be based on accurate assessment of treatment need. In this paper, we examine the likely extent of the gap between voluntary alcohol treatment need and accessibility. We also suggest potential approaches to improve the ability to assess unmet need. Existing methods of assessing the treatment needs of Indigenous Australians are limited by incomplete and inaccurate survey data and an over-reliance on existing service use data. In addition to a shortage of services, cultural and logistical barriers may hamper access to alcohol treatment for Indigenous Australians. There is also a lack of services funded to a level that allows them to cope with clients with complex medical and physical comorbidity, and a lack of services for women, families and young people. A lack of voluntary treatment services also raises serious ethical concerns, given the expansion of mandatory treatment programmes and incarceration of Indigenous Australians for continued drinking. The use of modelling approaches, linkage of administrative data sets and strategies to improve data collection are discussed as possible methods to better assess treatment need. [Brett J, Lee K, Gray D, Wilson S, Freeburn B, Harrison K, Conigrave K. Mind the gap: what is the difference between alcohol treatment need and access for Aboriginal and Torres Strait Islander Australians? Drug Alcohol Rev 2016;35:456-460]. © 2015 Australasian Professional Society on Alcohol and other Drugs.

  1. Realist Review of Programs, Policies, and Interventions to Enhance the Social, Emotional, and Spiritual Well-Being of Aboriginal and Torres Strait Islander Young People Living in Out-of-Home Care

    Directory of Open Access Journals (Sweden)

    Sophie Lindstedt

    2017-07-01

    Full Text Available The child protection system in Australia includes out-of-home care (OoHC for children and young people at risk of harm and neglect. In Australia, Aboriginal and Torres Strait Islander children and young people are 9 times more likely to be placed in care than non-Aboriginal young people (Australian Institute of Health and Welfare, 2015. Australia’s history of colonization and subsequent policies have caused trauma to individuals, families, and communities and resulted in poor physical and mental health and mistrust of services. This review was undertaken to identify programs and policies currently in place that aim to improve the mental health and well-being of this vulnerable population. It provides an analysis of both the strengths of the current system as well as what has been inadequately addressed based on literature in the area.By incorporating an Aboriginal perspective, this review focuses on social, emotional, and spiritual well-being (SESWB and the aspects of a child’s life and community that promote this. A realist review of the academic and grey literature was conducted in 2014. It included an extensive search of government and non-government (NGO publications. The review identified nine programs or policies that are designed to improve the SESWB of Aboriginal young people in OoHC in local and international settings. These are the Aboriginal and Torres Strait Islander Child Placement Principle, cultural support plans, Aboriginal Community Controlled Organisations (ACCOs, family group decision-making, therapeutic care, and Panyappi Mentoring Program. Given that culturally competent service provision is important to SESWB, the review concludes that an increase in monitoring and evaluation is necessary to determine the effectiveness of programs and ensure their implementation and sustainability when warranted. Policy and research work is needed to adapt and devise programs promoting the SESWB of Aboriginal young people (at both the

  2. Integral system for computer aided design of power line transmission towers; Sistema integral para el diseno asistido por computadora de torres de transmision

    Energy Technology Data Exchange (ETDEWEB)

    Nagore, Gabriel [Instituto de Investigaciones Electricas, Cuernavaca (Mexico)

    1987-12-31

    The profitable use of the advantages offered by the computer aided design, through the integral system for the structural design of power transmission towers (SIDETT) will contribute to facilitate and improve the design of the structures that link the electric power generation centers with the consumers. [Espanol] El aprovechamiento de las ventajas que ofrece el diseno asistido por computadora, a traves del sistema integral para el diseno estructural de torres de transmision (SIDETT), contribuira a agilizar y mejorar el diseno de las estructuras que enlazan los centros de generacion de energia electrica con los consumidores.

  3. Integral system for computer aided design of power line transmission towers; Sistema integral para el diseno asistido por computadora de torres de transmision

    Energy Technology Data Exchange (ETDEWEB)

    Nagore, Gabriel [Instituto de Investigaciones Electricas, Cuernavaca (Mexico)

    1986-12-31

    The profitable use of the advantages offered by the computer aided design, through the integral system for the structural design of power transmission towers (SIDETT) will contribute to facilitate and improve the design of the structures that link the electric power generation centers with the consumers. [Espanol] El aprovechamiento de las ventajas que ofrece el diseno asistido por computadora, a traves del sistema integral para el diseno estructural de torres de transmision (SIDETT), contribuira a agilizar y mejorar el diseno de las estructuras que enlazan los centros de generacion de energia electrica con los consumidores.

  4. Turner Syndrome

    Directory of Open Access Journals (Sweden)

    Ramachandran Sudarshan

    2012-08-01

    Full Text Available Turner syndrome is a genetic disorder that affects mostly females. Affected females have characteristic features such as short stature, premature ovarian failure, and several other features. Oral manifestations of this condition are not much discussed in the literature. But reported literature includes teeth, palate, periodontal and salivary changes. So the aim of this review is to illustrate the general manifestations, and especially the oral manifestations of Turner syndrome and evaluate their possible management. [Archives Medical Review Journal 2012; 21(4.000: 246-252

  5. Apert syndrome

    Directory of Open Access Journals (Sweden)

    Premalatha

    2010-01-01

    Full Text Available Apert syndrome (acrocephalosyndactyly is a rare developmental malformation characterized by craniosynostosis, mid-face hypoplasia, symmetrical syndactyly of hands and feet. The prodromal characteristics for the typical cranio-facial appearance are early craniosynostosis of the coronal suture, cranial base and agenesis of the sagittal suture. The purpose of this paper is to report a case of Apert syndrome with emphasis on craniofacial and oral features in an eighteen-month-old male child. The patient presented with several craniofacial deformities, including brachycephaly, midface hypoplasia, flat face, hypertelorism, ocular proptosis, downslanting palpebral fissures. Syndactylies with osseous fusion of the hands and feet were also observed. Intraoral findings included delayed eruption of teeth, high arched palate with pseudo cleft in the posterior one third.

  6. Reproductive Issues in Women with Turner Syndrome.

    Science.gov (United States)

    Folsom, Lisal J; Fuqua, John S

    2015-12-01

    Turner syndrome is one of the most common chromosomal abnormalities affecting female infants. The severity of clinical manifestations varies and it affects multiple organ systems. Women with Turner syndrome have a 3-fold increase in mortality, which becomes even more pronounced in pregnancy. Reproductive options include adoption or surrogacy, assisted reproductive techniques, and in rare cases spontaneous pregnancy. Risks for women with Turner syndrome during pregnancy include aortic disorders, hepatic disease, thyroid disease, type 2 diabetes, and cesarean section delivery. Providers must be familiar with the risks and recommendations in caring for women with Turner syndrome of reproductive age. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Sick building syndrome

    Directory of Open Access Journals (Sweden)

    Tjandra Y. Aditama

    2002-06-01

    Full Text Available Sick building syndrome describes a number of mostly unspesific complaints of some occupants of the building. The exact pathophysiological mechanism remains elusive. It is a multi factorial event which may include physical, chemical, biological as well as psycological factors. In many cases it is due to insufficient maintenance of the HVAC (heating, ventilation, air conditioning system in the building. Sign and symptoms can be uncomfortable and even disabling, which may include mucus membrane irritation, neurotoxic symptoms, asthma like symptoms, skin complaints, gastrointestinal symptoms and other related symptoms. There are various investigation methods to diagnose sick building syndrome, and on site assessment of the building is extremely useful. Prevention through a proactive air quality monitoring program is far more desirable than dealing with an actual sick building. Indoor air and the sick building symdrome serves as a paradigm of modern occupational and environmental medicine. (Med J Indones 2002; 11:124-31Keywords: indoor air pollution, sick building syndrome, building related illness

  8. Noonan syndrome - a new survey.

    Science.gov (United States)

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel; Abbaszadegan, Mohammadreza

    2017-02-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available.

  9. Kartagener's Syndrome.

    Science.gov (United States)

    Dhar, D K; Ganguly, K C; Alam, S; Hossain, A; Sarker, U K; Das, B K; Haque, M J

    2009-01-01

    Kartagener's Syndrome or Immotile Cilia Syndrome, a variant of Primary Ciliary Dyskinesia (PCD), is a rare autosomal recessive genetic disorder caused by defect in the tiny hair like structure, the cilia lining the respiratory tract (upper and lower), sinuses, eustachian tubes, middle ear and fallopian tubes. Here electron microscopy shows abnormal arrangement of ciliary tubules and patients with Kartagener's syndrome has an absence of dynein arms at the base of the cilia. The inability of cilia to move results in inadequate clearance of bacteria from the air passages, resulting in an increased risk of infection and causing bronchiectasis. Another result of ciliary immobility is infertility. A 60 years old lady was diagnosed as a case of Kartagener's syndrome. She had history of chronic cough for 20 years, irregular fever for 20 years and occasional shortness of breath for 5 years. Relevant investigations revealed dextrocardia, situs inversus, bilateral maxillary sinusitis with non pneumatised frontal sinus and bronchiectasis. She was treated with low concentration oxygen inhalation, antibiotic, bronchodilator, chest physiotherapy including postural drainage, vitamins and other supportive treatment.

  10. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion.

    Science.gov (United States)

    Demirbas, Seref; Aykan, Musa Baris; Zengin, Haydar; Mazman, Semir; Saglam, Kenan

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti - VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated protein 1 antibodies (LGI1-Ab) were previously known for the potential association with this condition. We present a Morvan Syndrome in a patient who presented with various neuropsychiatric symptoms and SIADH.

  11. A Case of Paraneoplastic Cushing Syndrome Presenting as Hyperglycemic Hyperosmolar Nonketotic Syndrome

    Directory of Open Access Journals (Sweden)

    Christina E. Brzezniak

    2017-04-01

    Full Text Available Carcinoid tumors are neuroendocrine tumors that mainly arise in the gastrointestinal tract, lungs, and bronchi. Bronchopulmonary carcinoids have been associated with Cushing syndrome, which results from ectopic adrenocorticotrophic hormone (ACTH secretion. We report the case of a 65-year-old man, a colonel in the US Air Force, with metastatic bronchopulmonary carcinoid tumors treated on a clinical trial who was hospitalized for complaints of increasing thirst, polydipsia, polyuria, weakness, and visual changes. Decompensated hyperglycemia suggested a diagnosis of hyperglycemic hyperosmolar nonketotic syndrome (HHNS. Additional findings, which included hypokalemia, hypernatremia, hypertension, metabolic alkalosis, moon facies, and striae, raised a red flag for an ectopic ACTH syndrome. Elevated ACTH levels confirmed Cushing syndrome. Treatment with a fluid replacement and insulin drip resulted in immediate symptomatic improvement. Cushing syndrome should be considered in carcinoid patients with physical stigmata such as moon facies and striae. HHNS may be the presenting clinical feature in patients with impaired glucose metabolism.

  12. 5p13 microduplication syndrome: a new case and better clinical definition of the syndrome.

    Science.gov (United States)

    Novara, Francesca; Alfei, Enrico; D'Arrigo, Stefano; Pantaleoni, Chiara; Beri, Silvana; Achille, Valentina; Sciacca, Francesca L; Giorda, Roberto; Zuffardi, Orsetta; Ciccone, Roberto

    2013-01-01

    Chromosome 5p13 duplication syndrome (OMIM #613174), a contiguous gene syndrome involving duplication of several genes on chromosome 5p13 including NIPBL (OMIM 608667), has been described in rare patients with developmental delay and learning disability, behavioral problems and peculiar facial dysmorphisms. 5p13 duplications described so far present with variable sizes, from 0.25 to 13.6 Mb, and contain a variable number of genes. Here we report another patient with 5p13 duplication syndrome including NIPBL gene only. Proband's phenotype overlapped that reported in patients with 5p13 microduplication syndrome and especially that of subjects with smaller duplications. Moreover, we better define genotype-phenotype relationship associated with this duplication and confirmed that NIPBL was likely the major dosage sensitive gene for the 5p13 microduplication phenotype. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  13. Neuroimaging experience in pediatric Horner syndrome

    International Nuclear Information System (INIS)

    Kadom, Nadja; Rosman, N.P.; Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M.; Zein, Wadih M.

    2015-01-01

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  14. Neuroimaging experience in pediatric Horner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kadom, Nadja [Boston University School of Medicine, Department of Radiology, Boston University Medical Center, Boston, MA (United States); Rosman, N.P. [Boston Medical Center, Division of Pediatric Neurology, Departments of Pediatrics and Neurology, Boston University School of Medicine, Boston, MA (United States); Jubouri, Shams; Trofimova, Anna; Egloff, Alexia M. [Children' s National Medical Center, Department of Radiology and Diagnostic Imaging, Washington, DC (United States); Zein, Wadih M. [National Eye Institute (NEI), Bethesda, MD (United States)

    2015-09-15

    Horner syndrome in children is rare. The frequency and spectrum of malignancy as the cause of Horner syndrome in children remains unclear. Also unclear is whether the imaging work-up should include the entire oculo-sympathetic pathway or should be more targeted. In addition, the value of cross-sectional angiographic imaging in Horner syndrome is uncertain. To review imaging pathology in a cohort of children with Horner syndrome at a major academic pediatric medical center. We reviewed a 22-year period of CT and MR imaging studies in children with a clinical diagnosis of Horner syndrome referred for imaging. We found 38 patients who fulfilled study criteria of Horner syndrome and 6/38 had relevant imaging findings: 2/6 etiologies were neoplastic (congenital neuroblastoma and central astrocytoma), 1/6 had a vascular abnormality (hypoplastic carotid artery), 1/6 had maldevelopment (Chiari I malformation), and 2/6 had inflammatory/traumatic etiology (viral cervical lymphadenopathy, post jugular vein cannulation). There was a similar number of congenital and acquired pathologies. The malignancies were found at any level of the oculosympathetic pathway. There are treatable causes, including malignancies, in children presenting with Horner syndrome, which justify imaging work-up of the entire oculosympathetic pathway, unless the lesion level can be determined clinically. (orig.)

  15. SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

    Science.gov (United States)

    Fabre, Alexandre; Charroux, Bernard; Martinez-Vinson, Christine; Roquelaure, Bertrand; Odul, Egritas; Sayar, Ersin; Smith, Hilary; Colomb, Virginie; Andre, Nicolas; Hugot, Jean-Pierre; Goulet, Olivier; Lacoste, Caroline; Sarles, Jacques; Royet, Julien; Levy, Nicolas; Badens, Catherine

    2012-01-01

    Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease. PMID:22444670

  16. DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

    Science.gov (United States)

    Campeau, Philippe M; Hennekam, Raoul C

    2014-09-01

    DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition. © 2014 Wiley Periodicals, Inc.

  17. Capgras syndrome related to diazepam treatment.

    Science.gov (United States)

    Stewart, Jonathan T

    2004-01-01

    Capgras syndrome, the delusion that identical-appearing impostors have replaced familiar people, is an unusual phenomenon usually seen in schizophrenia or dementia. We recently cared for a 78 year old man who seemed to develop Capgras syndrome as an adverse reaction to diazepam. An iatrogenic cause should be considered in the differential diagnosis of any new delusion, including Capgras syndrome.

  18. Metabolic syndrome and aerobic fitness in patients with first-episode schizophrenia, including a 1-year follow-up

    DEFF Research Database (Denmark)

    Nyboe, L.; Vestergaard, C. H.; Moeller, M. K.

    2015-01-01

    OBJECTIVE: To compare the prevalence of metabolic syndrome (MetS) and metabolic abnormalities in patients with first-episode schizophrenia (FES) with sex- and age-matched healthy controls; to investigate changes in MetS during 1year of treatment; and to investigate predictors of MetS. METHODS: Pa...

  19. Chronic exertional compartment syndrome with medial tibial stress syndrome in twins.

    Science.gov (United States)

    Banerjee, Purnajyoti; McLean, Christopher

    2011-06-14

    Chronic exertional compartment syndrome and medial tibial stress syndrome are uncommon conditions that affect long-distance runners or players involved in team sports that require extensive running. We report 2 cases of bilateral chronic exertional compartment syndrome, with medial tibial stress syndrome in identical twins diagnosed with the use of a Kodiag monitor (B. Braun Medical, Sheffield, United Kingdom) fulfilling the modified diagnostic criteria for chronic exertional compartment syndrome as described by Pedowitz et al, which includes: (1) pre-exercise compartment pressure level >15 mm Hg; (2) 1 minute post-exercise pressure >30 mm Hg; and (3) 5 minutes post-exercise pressure >20 mm Hg in the presence of clinical features. Both patients were treated with bilateral anterior fasciotomies through minimal incision and deep posterior fasciotomies with tibial periosteal stripping performed through longer anteromedial incisions under direct vision followed by intensive physiotherapy resulting in complete symptomatic recovery. The etiology of chronic exertional compartment syndrome is not fully understood, but it is postulated abnormal increases in intramuscular pressure during exercise impair local perfusion, causing ischemic muscle pain. No familial predisposition has been reported to date. However, some authors have found that no significant difference exists in the relative perfusion, in patients, diagnosed with chronic exertional compartment syndrome. Magnetic resonance images of affected compartments have indicated that the pain is not due to ischemia, but rather from a disproportionate oxygen supply versus demand. We believe this is the first report of chronic exertional compartment syndrome with medial tibial stress syndrome in twins, raising the question of whether there is a genetic predisposition to the causation of these conditions. Copyright 2011, SLACK Incorporated.

  20. Gorlin-Goltz syndrome:

    OpenAIRE

    Binić, Ivana; Jovanović, Dragan L.; Ljubenović, Dragiša; Ljubenović, Milanka; Stanojević, Milenko

    2007-01-01

    Gorlin-Goltz syndrome is an inherited autosomal dominant disorder with complete penetrance and extreme variable expressivity. The authors present a case of an 11-year-old girl with typical features of Gorlin-Goltz syndrome with special respect to medical and dental problems which include multiple bony cage deformities like spina bifida with scoliosis having convexity to the left side, presence of an infantile uterus and multiple odonogenic keratocysts in the maxillofacial region.

  1. Nakalanga Syndrome: Clinical Characteristics, Potential Causes, and Its Relationship with Recently Described Nodding Syndrome.

    Directory of Open Access Journals (Sweden)

    Kathrin Föger

    2017-02-01

    Full Text Available Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms. Despite active research over the last years on the pathogenesis of Nodding syndrome, to date, no convincing single cause of Nodding syndrome has been reported. In this review, by means of a thorough literature search, we compare features of both disorders. We conclude that Nakalanga and Nodding syndromes are closely related and may represent the same condition. Our findings may provide new directions in research on the cause underlying this neurological disorder.

  2. Usher's Syndrome: A 1986 Update.

    Science.gov (United States)

    Baechle, Cathy L.; Rittenhouse, Robert K.

    The authors describe personal experiences with Usher's Syndrome, a condition involving visual impairment (due to Retinitis Pigmentosa) and deafness. Prevalence and onset of Usher's Syndrome are described along with characteristics of two different types. Problems connected with diagnosis are reviewed, including genetic aspects and the progressive…

  3. Proteus syndrome: craniofacial and cerebral MRI

    International Nuclear Information System (INIS)

    DeLone, D.R.; Brown, W.D.; Gentry, L.R.

    1999-01-01

    The Proteus syndrome is a rare hamartoneoplastic syndrome that may affect the brain, skull, and extracranial head and neck. We present a case with severe, characteristic findings. Brain abnormalities are not common in Proteus syndrome; when present, hemimegalencephaly and migrational disorders are typically seen, commonly with an associated seizure disorder. Maxillary and mandibular dysmorphism may occur, including unilateral condylar hyperplasia. Subcutaneous fatty, fibrous, lymphangiomatous masses commonly seen in this syndrome may involve the neck and face, leading to disfigurement and potential airway compromise. (orig.)

  4. [Multidisciplinary practice guideline 'Marfan syndrome'].

    Science.gov (United States)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    Marfan syndrome is a multi-system disorder of dominant inheritance in which the cardiovasculature, in particular the aorta, the eyes and the skeleton are affected. Diagnostic assessment and treatment of patients who are suspected of or have Marfan syndrome should preferably be done by multidisciplinary teams such as those found in specialised Marfan syndrome centres. The practice guideline is intended for all care givers involved with the recognition, diagnosis, consultations and the medicinal and surgical treatment of Marfan patients; it includes referral criteria and information on the referral process. A diagnosis of Marfan syndrome is based on international criteria in which aortic root dilatation and dissection, ectopia lentis, an affected first-degree family member and a pathogenic FBN1 mutation are the cardinal features. Alternative diagnoses are also included in the practice guideline. Recommendations are given for the monitoring and treatment of Marfan patients during pregnancy and delivery. Advice on lifestyle is mainly focussed on sports activities.

  5. Prescribing patterns in premenstrual syndrome

    Directory of Open Access Journals (Sweden)

    Jones Paul W

    2002-06-01

    Full Text Available Abstract Background Over 300 therapies have been proposed for premenstrual syndrome. To date there has been only one survey conducted in the UK of PMS treatments prescribed by GPs, a questionnaire-based study by the National Association of Premenstrual Syndrome in 1989. Since then, selective serotonin re-uptake inhibitors have been licensed for severe PMS/PMDD, and governmental recommendations to reduce the dosage of vitamin B6 (the first choice over-the-counter treatment for many women with PMS have been made. This study investigates the annual rates of diagnoses and prescribing patterns for premenstrual syndrome (1993–1998 within a computerised general practitioner database. Methods Retrospective survey of prescribing data for premenstrual syndrome between 1993–1998 using the General Practice Research Database for the West Midlands Region which contains information on 282,600 female patients Results Overall the proportion of women with a prescription-linked diagnosis of premenstrual syndrome has halved over the five years. Progestogens including progesterone were the most commonly recorded treatment for premenstrual syndrome during the whole study period accounting for over 40% of all prescriptions. Selective serotonin-reuptake inhibitors accounted for only 2% of the prescriptions in 1993 but rose to over 16% by 1998, becoming the second most commonly recorded treatment. Vitamin B6 accounted for 22% of the prescriptions in 1993 but dropped markedly between 1997 and 1998 to 11%. Conclusions This study shows a yearly decrease in the number of prescriptions linked to diagnoses for premenstrual syndrome. Progestogens including progesterone, is the most widely prescribed treatment for premenstrual syndrome despite the lack of evidence demonstrating their efficacy.

  6. Development and feasibility testing of an education program to improve knowledge and self-care among Aboriginal and Torres Strait Islander patients with heart failure.

    Science.gov (United States)

    Clark, Robyn A; Fredericks, Bronwyn; Buitendyk, Natahlia J; Adams, Michael J; Howie-Esquivel, Jill; Dracup, Kathleen A; Berry, Narelle M; Atherton, John; Johnson, Stella

    2015-01-01

    There is a 70% higher age-adjusted incidence of heart failure (HF) among Aboriginal and Torres Strait Islander people, three times more hospitalisations and twice as many deaths as among non-Aboriginal people. There is a need to develop holistic yet individualised approaches in accord with the values of Aboriginal community health care to support patient education and self-care. The aim of this study was to re-design an existing HF educational resource (Fluid Watchers-Pacific Rim) to be culturally safe for Aboriginal and Torres Strait Islander peoples, working in collaboration with the local community, and to conduct feasibility testing. This study was conducted in two phases and utilised a mixed-methods approach (qualitative and quantitative). Phase 1 used action research methods to develop a culturally safe electronic resource to be provided to Aboriginal HF patients via a tablet computer. An HF expert panel adapted the existing resource to ensure it was evidence-based and contained appropriate language and images that reflects Aboriginal culture. A stakeholder group (which included Aboriginal workers and HF patients, as well as researchers and clinicians) then reviewed the resources, and changes were made accordingly. In Phase 2, the new resource was tested on a sample of Aboriginal HF patients to assess feasibility and acceptability. Patient knowledge, satisfaction and self-care behaviours were measured using a before and after design with validated questionnaires. As this was a pilot test to determine feasibility, no statistical comparisons were made. Phase 1: Throughout the process of resource development, two main themes emerged from the stakeholder consultation. These were the importance of identity, meaning that it was important to ensure that the resource accurately reflected the local community, with the appropriate clothing, skin tone and voice. The resource was adapted to reflect this, and members of the local community voiced the recordings for the

  7. Unilateral glaucoma in Sotos syndrome (cerebral gigantism).

    Science.gov (United States)

    Yen, M T; Gedde, S J; Flynn, J T

    2000-12-01

    To report a patient with unilateral glaucoma associated with Sotos syndrome. Sotos syndrome (cerebral gigantism) is a disorder of growth and development with characteristic facial changes and normal endocrine function. Ocular manifestations may also include megalocornea, iris hypoplasia, cataracts, megalophthalmos, strabismus, nystagmus, and retinal dystrophy. Case report. A 50 year-old man with the clinical features of Sotos syndrome presented with complaints of decreased vision in the left eye. Ophthalmologic examination revealed bilateral megalocornea, megalophthalmos, iris hypoplasia and transillumination defects, cataracts, and unilateral glaucoma. Intraocular pressure was lowered, and visual field loss was stabilized with topical medications. Sotos syndrome patients should be examined routinely to allow for early detection and treatment of potential ocular problems, including glaucoma.

  8. Understanding Bartter syndrome and Gitelman syndrome.

    Science.gov (United States)

    Fremont, Oliver T; Chan, James C M

    2012-02-01

    We aim to review the clinical features of two renal tubular disorders characterized by sodium and potassium wasting: Bartter syndrome and Gitelman syndrome. Selected key references concerning these syndromes were analyzed, together with a PubMed search of the literature from 2000 to 2011. The clinical features common to both conditions and those which are distinct to each syndrome were presented. The new findings on the genetics of the five types of Bartter syndrome and the discrete mutations in Gitelman syndrome were reviewed, together with the diagnostic workup and treatment for each condition. Patients with Bartter syndrome types 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. They present with symptoms, often quite severe in the neonatal period. Patients with classic Bartter syndrome type 3 present later in life and may be sporadically asymptomatic or mildly symptomatic. The severe, steady-state hypokalemia in Bartter syndrome and Gitelman syndrome may abruptly become life-threatening under certain aggravating conditions. Clinicians need to be cognizant of such renal tubular disorders, and promptly treat at-risk patients.

  9. Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

    NARCIS (Netherlands)

    Bouman, Arjan; Alders, Mariëlle; Oostra, Roelof Jan; van Leeuwen, Elisabeth; Thuijs, Nikki; van der Kevie-Kersemaekers, Anne-Marie; van Maarle, Merel

    2017-01-01

    Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is

  10. [Clinical implications of polycystic ovary syndrome].

    Science.gov (United States)

    Dravecká, Ingrid

    Polycystic ovary syndrome (PCOS) is a heterogeneous and complex endocrine disease which among the female population belongs to the most widespread endocrinopathies and it is the most frequent cause of hyperthyroidism, anticoagulation and infertility. Insulin resistance is one of the important diabetology factors impacting hyperglycaemia in a majority of women with PCOS (60-80 %). Clinical expressions of PCOS include reproduction disorders, metabolic characteristics and psychological implications. Reproduction disorders include hyperthyroidism, menstruation cycle disorders, infertility and pregnancy complications as well as early abortions, gestational diabetes and pregnancy induced hypertension. Long-term metabolic risks of PCOS include type 2 diabetes mellitus, dyslipidemia, arterial hypertension and endothelial dysfunction. The available data confirms higher incidence of cardiovascular diseases in women with PCOS. In particular among obese women PCOS is more frequently associated with non-alcoholic hepatic steatosis, sleep apnoea syndrome and endometrial cancer. The literature includes some controversial data about the relationship between PCOS and autoimmunity. Women with PCOS are more prone to suffer from insufficient confidence with higher incidence of anxiety, depression, bipolar disorder and eating disorders. autoimmunity - diabetes mellitus - pregnancy - insulin resistance - metabolic syndrome - menstrual disorders - polycystic ovary syndrome.

  11. The Bleaching Syndrome: The Role of Educational Intervention

    Science.gov (United States)

    Hall, Ronald E.

    2016-01-01

    Per the Bleaching Syndrome, people of color, including African, Asian, and Latino Americans, are both victims and perpetrators of color discrimination. The Bleaching Syndrome encompasses perceptual, psychological, and behavioral sectors that affect students' schooling experiences. Education professionals, including teachers, administrators, and…

  12. Antley-Bixler syndrome with radioulnar synostosis

    International Nuclear Information System (INIS)

    Hurley, Maja E.; Kelleher, Jerry; White, Martin J.; Green, Andrew J.

    2004-01-01

    This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has not previously been associated with AB syndrome. Thus, our patient presents unique features and represents another argument in favour of an AB-like spectrum rather than a single syndrome. (orig.)

  13. Suicides in Aboriginal and Torres Strait Islander children: analysis of Queensland Suicide Register.

    Science.gov (United States)

    Soole, Rebecca; Kõlves, Kairi; De Leo, Diego

    2014-12-01

    Suicide rates among Indigenous Australian children are higher than for other Australian children. The current study aimed to identify factors associated with Indigenous child suicide when compared to other Australian children. Using the Queensland Suicide Register, suicides in Indigenous children (10-14 years) and other Australian children in the same age band were compared. Between 2000 and 2010, 45 child suicides were recorded: 21 of Indigenous children and 24 of other Australian children. This corresponded to a suicide rate of 10.15 suicides per 100,000 for Indigenous children - 12.63 times higher than the suicide rate for other Australian children (0.80 per 100,000). Hanging was the predominant method used by all children. Indigenous children were significantly more likely to suicide outside the home, to be living outside the parental home at time of death, and be living in remote or very remote areas. Indigenous children were found to consume alcohol more frequently before suicide, compared to other Australian children. Current and past treatments of psychiatric disorders were significantly less common among Indigenous children compared to other Australian children. Western conceptualisation of mental illness may not adequately embody Indigenous people's holistic perspective regarding mental health. Further development of culturally appropriate suicide prevention activities for Aboriginal and Torres Strait Islander children is required. © 2014 Public Health Association of Australia.

  14. Hennekam lymphangiectasia syndrome

    Science.gov (United States)

    Lakshminarayana, G.; Mathew, A.; Rajesh, R.; Kurien, G.; Unni, V. N.

    2011-01-01

    Hennekam lymphangiectasia syndrome is a rare disorder comprising of intestinal and renal lymphangiectasia, dysmorphic facial appearance and mental retardation. The facial features include hypertelorism with a wide, flat nasal bridge, epicanthic folds, small mouth and small ears. We describe a case of a multigravida with bad obstetric history and characteristic facial and dental anomalies and bilateral renal lymphangiectasia. To our knowledge this is the first case of Hennekam lymphangiectasia syndrome with anodontia to be reported from India. PMID:22022089

  15. Juvenile polyposis syndrome

    OpenAIRE

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male...

  16. Polycystic Ovary Syndrome

    OpenAIRE

    McCartney, Christopher R.; Marshall, John C.

    2016-01-01

    Polycystic ovary syndrome is a condition in which a woman has an imbalance of female sex hormones. This may lead to menstrual cycle changes, cysts in the ovaries, trouble getting pregnant, and other health changes. In PCOS, mature eggs are not released from the ovaries. Instead, they can form very small cysts in the ovary. These changes can contribute to infertility. Common symptoms of PCOS include Menstrual disorders, Infertility, High levels of testosterone and Metabolic syndrome. Obesity, ...

  17. Hypophosphatemia in a Malnourished Child: When Renal Fanconi Syndrome Does Not Stand for Refeeding Syndrome.

    Science.gov (United States)

    Runde, Joseph; Rivera-Rivera, Edgardo; Pompeii-Wolfe, Cecelia; Clardy, Christopher; Sentongo, Timothy

    2018-05-10

    Refeeding syndrome is diagnosed based on the onset of multiple laboratory abnormalities (most commonly hypophosphatemia) and clinical signs in the setting of nutrition rehabilitation of malnourished patients. Because definitions are not uniform, a broad differential diagnosis should always include renal tubular dysfunction. Our report details a 3 year-old child with undiagnosed renal tubular dysfunction who presented with the clinical picture of refeeding syndrome with refractory electrolyte abnormalities. A diagnosis of renal Fanconi syndrome was made after urinalysis that revealed glucosuria and urine electrolyte losses. Thus, urinalysis can aid in making a positive diagnosis of refeeding syndrome. © 2018 American Society for Parenteral and Enteral Nutrition.

  18. A case of possible Kounis syndrome as a complication of scombroid syndrome

    Directory of Open Access Journals (Sweden)

    Stefano Rusconi

    2017-11-01

    Full Text Available Kounis syndrome is defined as the concurrence of acute coronary syndromes such as coronary spasm or acute myocardial infarction with conditions associated with activation of inflammatory mediators such histamine, arachidonic acid and various cytokines and chemokines. Recently, a variety of unusual etiologies have been reported, including scombroid syndrome. We present a case of a woman without previous history of cardiac diseases or cardiovascular risk factors, who presented to emergency department after the onset of flushing, asthenia, palpitations, burning sensation in the mouth having just eaten tuna. The electrocardiogram revealed a sinus tachycardia with diffuse ST segment depression. After therapy, in a short time symptoms recovered and a second electrocardiogram no longer showed any ST changes. These electrocardiographic changes observed in our case were probably due to transitory coronary vasospasm as described in type I variant of Kounis syndrome.

  19. La recerca sobre el parc rural de la Torre Negra: oportunitats per a la reforma ambiental de Sant Cugat del Vallès.

    OpenAIRE

    Llerena del Castillo, Germán; Espinet Blanch, Mariona; Martín-Aragón Navazo, Aitana; Fisher Sabrià, Kevin

    2010-01-01

    Amb aquest article es fa un balanç de les aportacions fetes per recerques universitàries a l’Ajuntament de Sant Cugat del Vallès (Barcelona) al voltant del parc rural de la Torre Negra. Les recerques són de naturalesa educativa i territorial, posant en valor per primer cop l’agricultura per una ciutat que ha deixat de ser pagesa per esdevenir un símbol de qualitat de vida urbana. Una primera recerca (Martín-Aragón i Espinet, 2007), realitzada com a treball de final de carrera de Ciències Ambi...

  20. Greater trochanteric pain syndrome diagnosis and treatment.

    Science.gov (United States)

    Mallow, Michael; Nazarian, Levon N

    2014-05-01

    Lateral hip pain, or greater trochanteric pain syndrome, is a commonly seen condition; in this article, the relevant anatomy, epidemiology, and evaluation strategies of greater trochanteric pain syndrome are reviewed. Specific attention is focused on imaging of this syndrome and treatment techniques, including ultrasound-guided interventions. Copyright © 2014 Elsevier Inc. All rights reserved.

  1. Hypothyroidism in metabolic syndrome

    Directory of Open Access Journals (Sweden)

    Sunil Kumar Kota

    2012-01-01

    Full Text Available Aim: Metabolic syndrome (MetS and hypothyroidism are well established forerunners of atherogenic cardiovascular disease. Considerable overlap occurs in the pathogenic mechanisms of atherosclerotic cardiovascular disease by metabolic syndrome and hypothyroidism. Insulin resistance has been studied as the basic pathogenic mechanism in metabolic syndrome. [1] This cross sectional study intended to assess thyroid function in patients with metabolic syndrome and to investigate the association between hypothyroidism and metabolic syndrome. Materials and Methods: One hundred patients with metabolic syndrome who fulfilled the National Cholesterol Education Program- Adult Treatment Panel (NCEP-ATP III criteria [ 3 out of 5 criteria positive namely blood pressure ≥ 130/85 mm hg or on antihypertensive medications, fasting plasma glucose > 100 mg/dl or on anti-diabetic medications, fasting triglycerides > 150 mg/dl, high density lipoprotein cholesterol (HDL-C 102 cms in men and 88 cms in women] were included in the study group. [2] Fifty patients who had no features of metabolic syndrome (0 out of 5 criteria for metabolic syndrome were included in the control group. Patients with liver disorders, renal disorders, congestive cardiac failure, pregnant women, patients on oral contraceptive pills, statins and other medications that alter thyroid functions and lipid levels and those who are under treatment for any thyroid related disorder were excluded from the study. Acutely ill patients were excluded taking into account sick euthyroid syndrome. Patients were subjected to anthropometry, evaluation of vital parameters, lipid and thyroid profile along with other routine laboratory parameters. Students t-test, Chi square test and linear regression, multiple logistic regression models were used for statistical analysis. P value < 0.05 was considered significant. Results: Of the 100 patients in study group, 55 were females (55% and 45 were males (45%. Of the 50

  2. Questions & Answers about...Marfan Syndrome.

    Science.gov (United States)

    National Inst. of Arthritis and Musculoskeletal and Skin Diseases (NIH), Bethesda, MD.

    This fact sheet answers general questions about Marfan syndrome, a heritable condition that affects the connective tissue. It describes the characteristics of the disorder, the diagnostic process, and ways to manage symptoms. Characteristics include: (1) people with Marfan syndrome are typically very tall, slender, and loose jointed; (2) more than…

  3. Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion

    OpenAIRE

    DEMIRBAS, SEREF; AYKAN, MUSA BARIS; ZENGIN, HAYDAR; MAZMAN, SEMIR; SAGLAM, KENAN

    2017-01-01

    The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti ? VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated ...

  4. [metabonomics research on coronary heart disease patients of phlegm turbidity syndrome and qi deficiency syndrome].

    Science.gov (United States)

    Cheng, Peng; Chen, Ze-qi; Wang, Dong-sheng

    2015-02-01

    To study the correlation between Chinese medical types of coronary heart disease (CHD) [i.e., phlegm turbidity syndrome (PTS) and qi deficiency syndrome (QDS)] and their metabolites. Recruited were 65 CHD patients including 37 cases of PTS and 28 cases of QDS. Serum endogenous metabolites in the two syndrome types were determined by gas chromatograph-mass spectrometer-computer (GC/MS), and their differences between their metabolic profiles analyzed. More than 100 chromatographic peaks were totally scanned. Chromatograms obtained was matched with mass spectrum bank, and finally we got the category contribution value of 46 kinds of substances. Results of MCTree analysis showed patients of PTS and patients of QDS could be effectively distinguished. Compounds contributing to identify the two syndromes were sequenced as serine, valine, 2 hydroxy propionic acid. Comparison of metabolites showed contents of serine and 2 hydroxy propionic acid were higher in patients of PTS than in patients of QDS (Pmetabonomics of CHD TCM syndrome types could provide material bases for TCM syndrome differentiation of CHD, indicating that metabonomics technologies might become a new research method for TCM syndrome typing.

  5. Oral mucosal manifestations in primary and secondary Sjögren syndrome and dry mouth syndrome

    Directory of Open Access Journals (Sweden)

    Katarzyna Błochowiak

    2016-02-01

    Full Text Available Introduction : One of the most important symptoms of Sjögren syndrome is xerostomia. The oral cavity deprived of saliva and its natural lubricative, protective and antibacterial properties is prone to a number of unfavourable consequences. Aim : To present the most important lesions on the oral mucosa in primary and secondary Sjögren syndrome and in dry mouth syndrome. Material and methods: The study group comprised 55 patients including 52 women and 3 men aged 20–72 years (average: 28.25 years. Results : Basing on the accepted criteria, primary Sjögren syndrome was diagnosed in 22 (40% patients, secondary Sjögren syndrome in 18 (32.7% patients, and dry mouth syndrome in 15 (27.27% patients. The physical examination and the examination of the mouth were performed and history was elicited from every patient. Conclusions : The most common pathologies appearing on the oral mucosa in primary and secondary Sjögren syndrome are angular cheilitis, cheilitis, increased lip dryness as well as non-specific ulcerations, aphthae and aphthoid conditions.

  6. Gorlin-goltz syndrome: a rare case.

    Science.gov (United States)

    Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, P K

    2015-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  7. Gorlin-Goltz Syndrome: A Rare Case

    OpenAIRE

    Ganguly, Satyaki; Jaykar, Kranti C; Kumar, Rajesh; Jha, Abhijeet Kumar; Banerjee, PK

    2015-01-01

    Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  8. A novel description of a syndrome consisting of 7q21.3 deletion including DYNC1I1 with preserved DLX5/6 without ectrodactyly: a case report.

    Science.gov (United States)

    Ramos-Zaldívar, Héctor M; Martínez-Irías, Daniel G; Espinoza-Moreno, Nelson A; Napky-Rajo, José S; Bueso-Aguilar, Tulio A; Reyes-Perdomo, Karla G; Montes-Gambarelli, Jimena A; Euceda, Isis M; Ponce-Barahona, Aldo F; Gámez-Fernández, Carlos A; Moncada-Arita, Wilberg A; Palomo-Bermúdez, Victoria A; Jiménez-Faraj, Julia E; Hernández-Padilla, Amanda G; Olivera, Denys A; Robertson, Kevin J; Leiva-Sanchez, Luis A; Herrera-Paz, Edwin Francisco

    2016-06-13

    Chromosomal region 7q21.3 comprises approximately 5.2 mega base pairs that include genes DLX5/6, SHFM1, and DYNC1I1 associated with split hand/split foot malformation 1. So far, there are reports of eight families with deletion of DYNC1I1 and preserved DLX5/6 associated with ectrodactyly. From these families, only three patients did not present ectrodactyly and, unlike our patient, no other cases have been described as having craniofacial dysmorphology, mitral valve prolapse, kyphoscoliosis, inguinal herniae, or personality disorder. There is no designation described in the literature for patients with syndromic manifestations without ectrodactyly, which hinders diagnosis. We report the case of a 44-year-old mestizo (combined European and Amerindian descent) man with a 3191 kilo base pairs deletion and International System for Human Cytogenetic Nomenclature array 7q21.3 (93,389,222-96,579,845)x1. Clinical manifestations included micrognathia, retrognathia, wormian bones, auditory canal stenosis, depressed nasal bridge, epicanthal fold, fullness of upper eyelid, long philtrum, low-set ears, sensorineural hearing loss, kyphoscoliosis, bilateral inguinal herniae, mild mitral valve prolapse, and paranoid personality disorder. His isolated DNA was analyzed using a CytoScan HD Microarray system. Chromosome Analysis Suite software was utilized for the microarray analysis. All copy number changes were determined using the human genome build 19 (hg19/NCBI build 37). Cases of deletions within chromosome 7q21.3 that include the split hand/split foot malformation 1 region represent a diagnostic challenge when not presenting ectrodactyly despite being syndromic. Due to the heterogeneity of the region, a better method to group and classify these patients is needed to facilitate their clinical diagnosis. For this purpose, we suggest that patients with 7q21.3 deletion including DYNC1I1 and preserved DLX5/6 without ectrodactyly, accompanied by craniofacial dysmorphology

  9. Mediterranean diet and the metabolic syndrome

    NARCIS (Netherlands)

    Bos, M.B.

    2009-01-01

    Mediterranean diet and the metabolic syndrome

    Background: The metabolic syndrome refers to a clustering of risk factors including
    abdominal obesity, hyperglycaemia, low HDL-cholesterol, hypertriglyceridaemia,
    and hypertension and it is a risk factor for diabetes mellitus type

  10. Diagnostic Dilemma in Allergy and Coronary Syndromes: Kounis Syndrome or Adrenaline Effect?

    Directory of Open Access Journals (Sweden)

    Ebru Atike Ongun

    2018-04-01

    Full Text Available Management of anaphylaxis includes adrenaline, a life-saving drug, however appropriate dosing and administration are of crucial importance due to serious side effects. We present a 15-year-old female with anaphylactic reaction manifesting as acute coronary syndrome and pulmonary edema following the administration of adrenaline as an intravenous bolus. Focusing on anaphylaxis, adrenaline and coronary symptoms, this report discussed the interactions between three intertwining entities: Kounis syndrome, Takotsubo cardiomyopathy, and adrenaline-induced coronary vasospasm, and challenges in differential diagnosis. Brugada syndrome (cardiac autonomic dysfunction and clinical manifestation of the patient was also evaluated. Early consideration of adrenaline at the appropriate dose and administration route is essential in anaphylaxis management. Kounis syndrome should be considered in those presenting with allergy symptoms and chest pain and adrenaline should be used carefully due to possible risks of worsening coronary symptoms in patients with Kounis syndrome. This report also highlights a very rare side effect of adrenaline; the drug, which constitutes the cornerstone of anaphylaxis management, has a potential to trigger allergy itself due to metabisulfite-containing preservative.

  11. Polycystic ovary syndrome and metformin in pregnancy

    DEFF Research Database (Denmark)

    Lilja, Anna E; Mathiesen, Elisabeth R

    2006-01-01

    UNLABELLED: The diagnostic criteria of polycystic ovary syndrome incorporate hyperandrogenism, polycystic ovaries, anovulation and irregular menstrual bleeding and the syndrome is a recognized reason behind infertility. The biguanide metformin has encouraging effects on several metabolic aspects...... of the syndrome, including insulin sensitivity, plasma glucose concentration and lipid profile. Moreover, metformin improves the ovarian function in women diagnosed with polycystic ovary syndrome. Hence, metformin is considered an agent for ovulation induction among these patients. However, even higher ovulation...

  12. Atrophic alopecia in the Hallermann-Strieff syndrome.

    Science.gov (United States)

    Grattan, C E; Liddle, B J; Willshaw, H E

    1989-05-01

    We report a case of the Hallermann-Strieff syndrome with focal scalp atrophy and associated patchy hair loss. Cases of the Hallermann-Strieff syndrome (a branchial arch syndrome) often present with ocular abnormalities in infancy but they also show a number of other abnormalities including a characteristic facial appearance, proportionate dwarfism, cutaneous atrophy, hypotrichosis and dental anomalies.

  13. Capillary leak syndrome: etiologies, pathophysiology, and management.

    Science.gov (United States)

    Siddall, Eric; Khatri, Minesh; Radhakrishnan, Jai

    2017-07-01

    In various human diseases, an increase in capillary permeability to proteins leads to the loss of protein-rich fluid from the intravascular to the interstitial space. Although sepsis is the disease most commonly associated with this phenomenon, many other diseases can lead to a "sepsis-like" syndrome with manifestations of diffuse pitting edema, exudative serous cavity effusions, noncardiogenic pulmonary edema, hypotension, and, in some cases, hypovolemic shock with multiple-organ failure. The term capillary leak syndrome has been used to describe this constellation of disease manifestations associated with an increased capillary permeability to proteins. Diseases other than sepsis that can result in capillary leak syndrome include the idiopathic systemic capillary leak syndrome or Clarkson's disease, engraftment syndrome, differentiation syndrome, the ovarian hyperstimulation syndrome, hemophagocytic lymphohistiocytosis, viral hemorrhagic fevers, autoimmune diseases, snakebite envenomation, and ricin poisoning. Drugs including some interleukins, some monoclonal antibodies, and gemcitabine can also cause capillary leak syndrome. Acute kidney injury is commonly seen in all of these diseases. In addition to hypotension, cytokines are likely to be important in the pathophysiology of acute kidney injury in capillary leak syndrome. Fluid management is a critical part of the treatment of capillary leak syndrome; hypovolemia and hypotension can cause organ injury, whereas capillary leakage of administered fluid can worsen organ edema leading to progressive organ injury. The purpose of this article is to discuss the diseases other than sepsis that produce capillary leak and review their collective pathophysiology and treatment. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  14. Limb anomalies in DiGeorge and CHARGE syndromes

    Energy Technology Data Exchange (ETDEWEB)

    Prasad, C.; Quackenbush, E.J.; Whiteman, D.; Korf, B. [Harvard Medical School, Boston, MA (United States)

    1997-01-20

    Limb anomalies are not common in the DiGeorge or CHARGE syndromes. We describe limb anomalies in two children, one with DiGeorge and the other with CHARGE syndrome. Our first patient had a bifid left thumb, Tetralogy of Fallot, absent thymus, right facial palsy, and a reduced number of T-cells. A deletion of 22q11 was detected by fluorescence in situ hybridization (FISH). The second patient, with CHARGE syndrome, had asymmetric findings that included right fifth finger clinodactyly, camptodactyly, tibial hemimelia and dimpling, and severe club-foot. The expanded spectrum of the DiGeorge and CHARGE syndromes includes limb anomalies. 14 refs., 4 figs.

  15. Recognizing syndromic hidradenitis suppurativa

    DEFF Research Database (Denmark)

    Gasparic, J; Theut Riis, P; Jemec, G B

    2017-01-01

    may inform the search for aetiological factors in HS. PubMed, Ovid and Web of Science were systematically searched using '(hidradenitis OR acne invers*) AND (syndrome OR KID OR PASS OR PAPA OR PASH OR SAPHO OR bazex-dupre OR 'dowling degos' OR triad OR tetrad)' and Cochrane Library using 'hidradenitis...... OR acne invers*'. A total of 82 articles were included in the final review. We summarize 134 cases collected from the 82 included articles. The syndromes are discussed, focusing on etiopathogenesis, clinical presentation and treatment. This study is based on case reports; therefore, conclusions may...

  16. Radiographic findings in Marfan's syndrome

    International Nuclear Information System (INIS)

    Watanabe, Yasutaka; Tanaka, Osamu; Koyama, Shinichiro

    2010-01-01

    Spontaneous pneumothorax and apical bulla are included in minor criteria of the diagnosis of Marfan's syndrome. We evaluated the frequency of radiological abnormal findings of the lung in Marfan's syndrome. Lungs could be assessed with CT in 38 cases that were selected from 50 cases in Marfan's syndrome with a cardiovascular disease or the valvular disease. Eleven cases (22%) in 50 cases had the past history of spontaneous pneumothorax. Chest CT scan in 38 cases showed emphysematous bullae in 12 cases, apical scar in eight cases, centrilobular emphysema in three cases, and bronchiectasis in one case. CT manifestations of the lung in Marfan's syndrome were mainly spontaneous pneumothorax and apical bullae as were previously reported. (author)

  17. Fragile X syndrome

    Science.gov (United States)

    ... problems, or intellectual disability may not be present. Symptoms Behavior problems associated with fragile X syndrome include: Autism spectrum disorder Delay in crawling, walking, or twisting Hand flapping ...

  18. [Maxillofacial and dental abnormalities in some multiple abnormality syndromes. "Cri du chat" syndrome, Wilms' tumor-aniridia syndrome; Sotos syndrome; Goldenhar syndrome].

    Science.gov (United States)

    Berio, A; Trucchi, R; Meliota, M

    1992-05-01

    The paper describes the maxillo-facial and dental anomalies observed in some chromosome and non-chromosome poly-malformative syndromes ("Cri du chat" syndrome; Wilms' tumour; Sotos' syndrome; Goldenhar's syndrome). The Authors emphasise the possibility of diagnosing these multiple deformity syndromes from maxillo-facial alterations in early infancy; anomalous tooth position and structure cal also be successfully treated immediately after the first appearance of teeth. This is a particularly promising field of pediatrics and preventive pediatric medicine.

  19. Noonan syndrome – a new survey

    Science.gov (United States)

    Tafazoli, Alireza; Eshraghi, Peyman; Koleti, Zahra Kamel

    2016-01-01

    Noonan syndrome (NS) is an autosomal dominant disorder with vast heterogeneity in clinical and genetic features. Various symptoms have been reported for this abnormality such as short stature, unusual facial characteristics, congenital heart abnormalities, developmental complications, and an elevated tumor incidence rate. Noonan syndrome shares clinical features with other rare conditions, including LEOPARD syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair, and Costello syndrome. Germline mutations in the RAS-MAPK (mitogen-activated protein kinase) signal transduction pathway are responsible for NS and other related disorders. Noonan syndrome diagnosis is primarily based on clinical features, but molecular testing should be performed to confirm it in patients. Due to the high number of genes associated with NS and other RASopathy disorders, next-generation sequencing is the best choice for diagnostic testing. Patients with NS also have higher risk for leukemia and specific solid tumors. Age-specific guidelines for the management of NS are available. PMID:28144274

  20. Brown-Vialetto-Van Laere syndrome

    Directory of Open Access Journals (Sweden)

    Sathasivam Sivakumar

    2008-04-01

    Full Text Available Abstract The Brown-Vialetto-Van Laere syndrome (BVVL is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years. The female to male ratio is approximately 3:1. The age of onset of the initial symptom varies from infancy to the third decade. The syndrome most frequently presents with sensorineural deafness, which is usually progressive and severe. Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features. Other features include respiratory compromise (the most frequent non-neurological finding, limb weakness, slurring of speech, facial weakness, and neck and shoulder weakness. Optic atrophy, retinitis pigmentosa, macular hyperpigmentation, autonomic dysfunction, epilepsy may occur. The etiopathogenesis of the condition remains elusive. Approximately 50% of cases are familial, of which autosomal recessive is suggested. The remaining cases are sporadic. The diagnosis is usually based on the clinical presentation. Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination are done to exclude other causes or to confirm the clinical findings. The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras motor neuron disease. Treatment with steroids or intravenous immunoglobulin may result in temporary stabilization of the syndrome. However, the mainstays of management are supportive and symptomatic treatment, in particular assisted ventilation and maintenance of nutrition via gastrostomy. The clinical course of BVVL is variable and includes gradual deterioration (almost half of cases, gradual deterioration with stable periods in between (a third of cases and deterioration with abrupt periods of worsening (just under a fifth of cases

  1. Gorlin-Goltz syndrome: A rare case

    Directory of Open Access Journals (Sweden)

    Satyaki Ganguly

    2015-01-01

    Full Text Available Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome is characterized by multiple basocellular epitheliomas, keratocysts in the jaws, bifid ribs, palmar and/or plantar pits and ectopic calcifications of the falx cerebri. We describe a case of Gorlin-Goltz syndrome illustrating the importance of a thorough examination including the examination of palms and soles and detailed investigations in a patient having lesions suggestive of basal cell carcinoma and multiple naevi.

  2. Psychiatric disorders associated with Cushing's syndrome.

    Science.gov (United States)

    Bratek, Agnieszka; Koźmin-Burzyńska, Agnieszka; Górniak, Eliza; Krysta, Krzysztof

    2015-09-01

    Cushing's syndrome is the term used to describe a set of symptoms associated with hypercortisolism, which in most cases is caused by hypophysial microadenoma over-secreting adrenocorticotropic hormone. This endocrine disorder is often associated with psychiatric comorbidities. The most important include mood disorders, psychotic disorders, cognitive dysfunctions and anxiety disorders. The aim of this article was to review the prevalence, symptoms and consequences of psychiatric disorders in the course of Cushing's syndrome. We therefore performed a literature search using the following keywords: Cushing's syndrome and psychosis, Cushing's syndrome and mental disorders, Cushing's syndrome and depression, Cushing's syndrome and anxiety. The most prevalent psychiatric comorbidity of Cushing's syndrome is depression. Psychiatric manifestations can precede the onset of full-blown Cushing's syndrome and therefore be misdiagnosed. Despite the fact that treatment of the underlying endocrine disease in most cases alleviates psychiatric symptoms, the loss of brain volume persists. It is important to be alert to the symptoms of hypercortisolism in psychiatric patients to avoid misdiagnosis and enable them receiving adequate treatment.

  3. Syndromes, Disorders and Maternal Risk Factors Associated With Neural Tube Defects (VII

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2008-09-01

    Full Text Available Neural tube defects (NTDs may be associated with syndromes, disorders and maternal risk factors. This article provides a comprehensive review of the syndromes, disorders and maternal risk factors associated with NTDs, including DK phocomelia syndrome (von Voss-Cherstvoy syndrome, Siegel-Bartlet syndrome, fetal warfarin syndrome, craniotelencephalic dysplasia, Czeizel-Losonci syndrome, maternal cocaine abuse, Weissenbacher-Zweymüller syndrome, parietal foramina (cranium bifidum, Apert syndrome, craniomicromelic syndrome, XX-agonadism with multiple dysraphic lesions including omphalocele and NTDs, Fryns microphthalmia syndrome, Gershoni-Baruch syndrome, PHAVER syndrome, periconceptional vitamin B6 deficiency, and autosomal dominant Dandy-Walker malformation with occipital cephalocele. NTDs associated with these syndromes, disorders and maternal risk factors are a rare but important cause of NTDs. The recurrence risk and the preventive effect of maternal folic acid intake in NTDs associated with syndromes, disorders and maternal risk factors may be different from those of nonsyndromic multifactorial NTDs. Perinatal diagnosis of NTDs should alert doctors to the syndromes, disorders and maternal risk factors associated with NTDs, and prompt thorough etiologic investigation and genetic counseling.

  4. Lynch Syndrome: An Updated Review

    Directory of Open Access Journals (Sweden)

    Rishabh Sehgal

    2014-06-01

    Full Text Available Lynch syndrome is one of the most common cancer susceptibility syndromes. Individuals with Lynch syndrome have a 50%–70% lifetime risk of colorectal cancer, 40%–60% risk of endometrial cancer, and increased risks of several other malignancies. It is caused by germline mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2. In a subset of patients, Lynch syndrome is caused by 3' end deletions of the EPCAM gene, which can lead to epigenetic silencing of the closely linked MSH2. Relying solely on age and family history based criteria inaccurately identifies eligibility for Lynch syndrome screening or testing in 25%–70% of cases. There has been a steady increase in Lynch syndrome tumor screening programs since 2000 and institutions are rapidly adopting a universal screening approach to identify the patients that would benefit from genetic counseling and germline testing. These include microsatellite instability testing and/or immunohistochemical testing to identify tumor mismatch repair deficiencies. However, universal screening is not standard across institutions. Furthermore, variation exists regarding the optimum method for tracking and disclosing results. In this review, we summarize traditional screening criteria for Lynch syndrome, and discuss universal screening methods. International guidelines are necessary to standardize Lynch syndrome high-risk clinics.

  5. Audiological findings in Noonan syndrome.

    Science.gov (United States)

    Tokgoz-Yilmaz, Suna; Turkyilmaz, Meral Didem; Cengiz, Filiz Basak; Sjöstrand, Alev Pektas; Kose, Serdal Kenan; Tekin, Mustafa

    2016-10-01

    The aim of this study was to evaluate audiologic properties of patients with Noonan syndrome and compare these findings with those of unaffected peers. The study included 17 children with Noonan syndrome and 20 typically developing children without Noonan syndrome. Pure tone and speech audiometry, immitancemetric measurement, otoacoustic emissions measurement and auditory brainstem response tests were applied to all (n = 37) children. Hearing thresholds of children with Noonan syndrome were higher (poorer) than those observed unaffected peers, while the hearing sensitivity of the both groups were normal limits (p = 0.013 for right, p = 0.031 for left ear). Transient evoked otoacoustic emissions amplitudes of the children with Noonan syndrome were lower than the children without Noonan syndrome (p = 0.005 for right, p = 0.002 for left ear). Middle ear pressures and auditory brainstem response values were within normal limits and there was no difference between the two groups (p > 0.05). General benefit of the present study is to characterize the audiologic findings of children with Noonan syndrome, which is beneficial in clinics evaluating children with Noonan syndrome. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. Prevention and Management of Refeeding Syndrome

    Directory of Open Access Journals (Sweden)

    Andika Indrarespati

    2016-12-01

    Full Text Available Refeeding Syndrome is a syndrome which occurs as a result of food administration in poorly nourished individuals. In this syndrome, there are wide range of biochemical alterations, clinical manifestations, and complications, starting from mild (asymptomatic to severe (death. This syndrome was initially proposed in 1950s; however, there is still no agreement for its clear definition, causing clinicians to be less aware and tend to overlook this condition. Clinical manifestations which usually appear include electrolyte imbalances (hypophosphatemia, hypokalemia, hyponatremia, hypomagnesemia and vitamin B1 deficiency. The main principle in management of refeeding syndrome is prevention, where clinicians need to identify this condition in the early stage in high risk individuals, supervision during refeeding, and administration of appropriate diet.

  7. Dyslipidaemia in nephrotic syndrome: mechanisms and treatment

    Science.gov (United States)

    Agrawal, Shipra; Zaritsky, Joshua J.; Fornoni, Alessia; Smoyer, William E.

    2018-01-01

    Nephrotic syndrome is a highly prevalent disease that is associated with high morbidity despite notable advances in its treatment. Many of the complications of nephrotic syndrome, including the increased risk of atherosclerosis and thromboembolism, can be linked to dysregulated lipid metabolism and dyslipidaemia. These abnormalities include elevated plasma levels of cholesterol, triglycerides and the apolipoprotein B containing lipoproteins VLDL and IDL; decreased lipoprotein lipase activity in the endothelium, muscle and adipose tissues; decreased hepatic lipase activity; and increased levels of the enzyme PCSK9. In addition, there is an increase in the plasma levels of immature HDL particles and reduced cholesterol efflux. Studies from the past few years have markedly improved our understanding of the molecular pathogenesis of nephrotic syndrome associated dyslipidaemia, and also heightened our awareness of the associated exacerbated risks of cardiovascular complications, progressive kidney disease and thromboembolism. Despite the absence of clear guidelines regarding treatment, various strategies are being increasingly utilized, including statins, bile acid sequestrants, fibrates, nicotinic acid and ezetimibe, as well as lipid apheresis, which seem to also induce partial or complete clinical remission of nephrotic syndrome in a substantial percentage of patients. Future potential treatments will likely also include inhibition of PCSK9 using recently developed anti PCSK9 monoclonal antibodies and small inhibitory RNAs, as well as targeting newly identified molecular regulators of lipid metabolism that are dysregulated in nephrotic syndrome. PMID:29176657

  8. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

    Science.gov (United States)

    Armour, Christine M; Smith, Amanda; Hartley, Taila; Chardon, Jodi Warman; Sawyer, Sarah; Schwartzentruber, Jeremy; Hennekam, Raoul; Majewski, Jacek; Bulman, Dennis E; Suri, Mohnish; Boycott, Kym M

    2016-07-01

    In 1987 Fitzsimmons and Guilbert described identical male twins with progressive spastic paraplegia, brachydactyly with cone shaped epiphyses, short stature, dysarthria, and "low-normal" intelligence. In subsequent years, four other patients, including one set of female identical twins, a single female child, and a single male individual were described with the same features, and the eponym Fitzsimmons syndrome was adopted (OMIM #270710). We performed exome analysis of the patient described in 2009, and one of the original twins from 1987, the only patients available from the literature. No single genetic etiology exists that explains Fitzsimmons syndrome; however, multiple different genetic causes were identified. Specifically, the twins described by Fitzsimmons had heterozygous mutations in the SACS gene, the gene responsible for autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS), as well as a heterozygous mutation in the TRPS1, the gene responsible in Trichorhinophalangeal syndrome type 1 (TRPS1 type 1) which includes brachydactyly as a feature. A TBL1XR1 mutation was identified in the patient described in 2009 as contributing to his cognitive impairment and autistic features with no genetic cause identified for his spasticity or brachydactyly. The findings show that these individuals have multiple different etiologies giving rise to a similar phenotype, and that "Fitzsimmons syndrome" is in fact not one single syndrome. Over time, we anticipate that continued careful phenotyping with concomitant genome-wide analysis will continue to identify the causes of many rare syndromes, but it will also highlight that previously delineated clinical entities are, in fact, not syndromes at all. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  9. Marfan syndrome masked by Down syndrome?

    NARCIS (Netherlands)

    Vis, J.C.; Engelen, K. van; Timmermans, J.; Hamel, B.C.J.; Mulder, B.J.

    2009-01-01

    Down syndrome is the most common chromosomal abnormality. A simultaneous occurrence with Marfan syndrome is extremely rare. We present a case of a 28-year-old female with Down syndrome and a mutation in the fibrillin-1 gene. The patient showed strikingly few manifestations of Marfan syndrome.

  10. Metabolic Syndrome

    Directory of Open Access Journals (Sweden)

    Sevil Ikinci

    2010-10-01

    Full Text Available Metabolic Syndrome is a combination of risk factors including common etiopathogenesis. These risk factors play different roles in occurence of atherosclerotic diseases, type 2 diabetes, and cancers. Although a compromise can not be achieved on differential diagnosis for MS, the existence of any three criterias enable to diagnose MS. These are abdominal obesity, dislipidemia (hypertrigliceridemia, hypercholesterolemia, and reduced high density lipoprotein hypertension, and elevated fasting blood glucose. According to the results of Metabolic Syndrome Research (METSAR, the overall prevalence of MS in Turkey is 34%; in females 40%, and in males it is 28%. As a result of “Western” diet, and increased frequency of obesity, MS is observed in children and in adolescents both in the world and in Turkey. Resulting in chronic diseases, it is thought that the syndrome can be prevented by healthy lifestyle behaviours. [TAF Prev Med Bull 2010; 9(5.000: 535-540

  11. Incidence of refeeding syndrome in internal medicine patients.

    Science.gov (United States)

    Kraaijenbrink, B V C; Lambers, W M; Mathus-Vliegen, E M H; Siegert, C E H

    2016-03-01

    Refeeding syndrome is a potentially fatal shift of fluids and electrolytes that may occur after reintroducing nutrition in a malnourished patient. Its incidence in internal medicine patients is not known. We aimed at determining the incidence in a heterogeneous group of patients acutely admitted to a department of internal medicine. All patients acutely admitted to the department of internal medicine of a teaching community hospital in Amsterdam, the Netherlands, between 22 February 2011 and 29 April 2011, were included. We applied the National Institute for Health and Care Excellence (NICE) criteria for determining people at risk of refeeding syndrome and took hypophosphataemia as the main indicator for the presence of this syndrome. Of 178 patients included in the study, 97 (54%) were considered to be at risk of developing refeeding syndrome and 14 patients actually developed the syndrome (14% of patients at risk and 8% of study population). Patients with a malignancy or previous malignancy were at increased risk of developing refeeding syndrome (p refeeding syndrome. The Short Nutritional Assessment Questionnaire score had a positive and negative predictive value of 13% and 95% respectively. The incidence of refeeding syndrome was relatively high in patients acutely admitted to the department of internal medicine. Oncology patients are at increased risk of developing refeeding syndrome. When taking the occurrence of hypophosphataemia as a hallmark, no other single clinical or composite parameter could be identified that accurately predicts the development of refeeding syndrome.

  12. Pediatric Toxic Shock Syndrome

    Directory of Open Access Journals (Sweden)

    Jennifer Yee

    2017-09-01

    Full Text Available Audience: This scenario was developed to educate emergency medicine residents on the diagnosis and management of a pediatric patient with toxic shock syndrome. The case is also appropriate for teaching of medical students and advanced practice providers, as well as a review of the principles of crisis resource management, teamwork, and communication. Introduction: Toxic shock syndrome is a low-frequency, high-acuity scenario requiring timely identification and aggressive management. If patients suffering from this condition are managed incorrectly, they may progress into multi-organ dysfunction and potentially death. Toxic shock syndrome has been associated with Streptococcus and Staphylococcus aureus (Staph. Approximately half of Staph cases are associated with menstruation, which was first described in the 1970s-1980s and was associated with the use of absorbent tampons.1 Group A Streptococcus may cause complications such as necrotizing fasciitis and gangrenous myositis.2 Pediatric patients may present critically ill from toxic shock syndrome. Providers need to perform a thorough history and physical exam to discern the source of infection. Management requires aggressive care with antibiotics and IV fluids. Objectives: By the end of this simulation session, the learner will be able to: 1 Recognize toxic shock syndrome. 2 Review the importance of a thorough physical exam. 3 Discuss management of toxic shock syndrome, including supportive care and the difference in antibiotic choices for streptococcal and staphylococcal toxic shock syndrome. 4 Appropriately disposition a patient suffering from toxic shock syndrome. 5 Communicate effectively with team members and nursing staff during a resuscitation of a critically ill patient. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session and lecture on toxic shock syndrome.

  13. Facet joint syndrome

    International Nuclear Information System (INIS)

    Zigrai, M.; Zakovic, J.; Brezinova, M.; Pavlovicova, M.

    2002-01-01

    It is the purpose of the study to demonstrate the clinical relevance of degenerative changes in the facet joint of patients with low back pain irradiating to the lower extremities, and discuss some problems relating to diagnosis and different diagnosis. 119 patients presenting the listed bellow syndromes are covered by the study: scoliosis, polytopic pain vertebral syndrome, paresis and history of trauma. all patients undergo comprehensive neurological examination with special attention focused on the spine: CT and plain x-rays are taken of the lumbosacral segment to assess the condition of the facet joints. The neurological examination demonstrates in all cases pain syndrome in the lumbar spine referred to one or both lower extremities. In 56% it is a matter of persisting pain, and in 44% - recurrent. More than half of the patients complain of sacroiliac (SI) dislocation and palpatory pain. Unilateral or bilateral degenerative changes are documented by imaging studies in all patients, including: subchondral thickening, osteopathy narrowing the lateral or central part of the spinal canal with ensuing nerve root compression. The lumbosacral zygoapophyseal joints are source of pseudoradicular pain. A correlation between clinical picture and GT changes is noted in all patients with facet joint syndrome. CT is an indispensable method in diagnosing facet joint syndrome. (authors)

  14. Syndromes that Link the Endocrine System and Genitourinary Tract.

    Science.gov (United States)

    Özlük, Yasemin; Kılıçaslan, Işın

    2015-01-01

    The endocrine system and genitourinary tract unite in various syndromes. Genitourinary malignancies may cause paraneoplastic endocrine syndromes by secreting hormonal substances. These entities include Cushing`s syndrome, hypercalcemia, hyperglycemia, polycythemia, hypertension, and inappropriate ADH or HCG production. The most important syndromic scenarios that links these two systems are hereditary renal cancer syndromes with specific genotype/phenotype correlation. There are also some very rare entities in which endocrine and genitourinary systems are involved such as Carney complex, congenital adrenal hyperplasia and Beckwith-Wiedemann syndrome. We will review all the syndromes regarding manifestations present in endocrine and genitourinary organs.

  15. Traditional Chinese Medicine Syndromes for Essential Hypertension: A Literature Analysis of 13,272 Patients

    Directory of Open Access Journals (Sweden)

    Jie Wang

    2014-01-01

    Full Text Available Background. To simplify traditional Chinese medicine syndrome differentiation and allow researchers to master syndrome differentiation for hypertension, this paper retrospectively studied the literature and analyzed syndrome elements corresponding to hypertension syndromes. Methods. Six databases including PubMed, EMBASE, Chinese Bio-Medical Literature Database, Chinese National Knowledge Infrastructure, Chinese Scientific Journal Database, and Wan-fang Data were searched from 1/January/2003 to 30/October/2013. We included all clinical literature testing hypertension syndromes and retrospectively studied the hypertension literature published from 2003 to 2013. Descriptive statistics calculated frequencies and percentages. Results. 13,272 patients with essential hypertension were included. Clinical features of hypertension could be attributed to 11 kinds of syndrome factors. Among them, seven syndrome factors were excess, while four syndrome factors were deficient. Syndrome targets were mainly in the liver and related to the kidney and spleen. There were 33 combination syndromes. Frequency of single-factor syndromes was 31.77% and frequency of two-factor syndromes was 62.26%. Conclusions. Excess syndrome factors of hypertension patients include yang hyperactivity, blood stasis, phlegm turbidity, internal dampness, and internal fire. Deficient syndrome factors of hypertension patients are yin deficiency and yang deficiency. Yin deficiency with yang hyperactivity, phlegm-dampness retention, and deficiency of both yin and yang were the three most common syndromes in clinical combination.

  16. Cotard syndrome in neurological and psychiatric patients.

    Science.gov (United States)

    Ramirez-Bermudez, Jesus; Aguilar-Venegas, Luis C; Crail-Melendez, Daniel; Espinola-Nadurille, Mariana; Nente, Francisco; Mendez, Mario F

    2010-01-01

    The authors describe the frequency and characteristics of Cotard syndrome among neurological and psychiatric inpatients at a tertiary referral center. All inpatients from the National Institute of Neurology of Mexico (March 2007-May 2009) requiring neuropsychiatric consultation were reviewed. Among 1,321 inpatient consultations, 63.7% had neurological disease and one (0.11%) had viral encephalitis and Cotard syndrome. Of inpatients, 36.2% had pure psychiatric disorders and three (0.62%) had Cotard syndrome, associated with psychotic depression, depersonalization, and penile retraction (koro syndrome). This review discusses potential mechanisms for Cotard syndrome, including the role of a perceptual-emotional dissociation in self-misattribution in the deliré des negations.

  17. Lennox-Gastaut Syndrome

    Science.gov (United States)

    ... and supports a broad program of basic and clinical research on epilepsy including Lennox-Gastaut syndrome. These studies are aimed at finding the causes of these disorders, improving ... Publications Definition Lennox- ...

  18. The catastrophic antiphospholipid syndrome in children.

    Science.gov (United States)

    Go, Ellen J L; O'Neil, Kathleen M

    2017-09-01

    To review the difficult syndrome of catastrophic antiphospholipid syndrome, emphasizing new developments in the diagnosis, pathogenesis and treatment. Few recent publications directly address pediatric catastrophic antiphospholipid syndrome (CAPS). Most articles are case reports or are data from adult and pediatric registries. The major factors contributing to most pediatric catastrophic antiphospholipid syndrome include infection and the presence of antiphospholipid antibodies, but complement activation also is important in creating diffuse thrombosis in the microcirculation. Treatment of the acute emergency requires anticoagulation, suppression of the hyperinflammatory state and elimination of the triggering infection. Inhibition of complement activation appears to improve outcome in limited studies, and suppression of antiphospholipid antibody formation may be important in long-term management. CAPS, an antibody-mediated diffuse thrombotic disease of microvasculature, is rare in childhood but has high mortality (33-50%). It requires prompt recognition and aggressive multimodality treatment, including anticoagulation, anti-inflammatory therapy and elimination of inciting infection and pathogenic autoantibodies.

  19. Gorlin-Goltz syndrome.

    Science.gov (United States)

    Şereflican, Betül; Tuman, Bengü; Şereflican, Murat; Halıcıoğlu, Sıddıka; Özyalvaçlı, Gülzade; Bayrak, Seval

    2017-09-01

    Gorlin-Goltz syndrome is a rare multisystemic disease inherited in an autosomal dominant pattern. It is characterized by numerous basal cell carcinoma of the skin, jaw cysts, and skeletal anomalies such as frontal bossing, vertebral anomalies, palmoplantar pits, and falx cerebri calcification. There is a tendency to tumors including medullablastoma, fibroma, rabdomyoma, leiomyosarcoma etc.. The diagnosis is based on major and minor clinical and radiologic criteria. Early diagnosis and treatment are of utmost importance in reducing the severity of long-term sequelae of this syndrome. In this article, we present a 15-year-old boy who was admitted to our clinic with brown-black papules and plaques on his scalp and was thought to have Gorlin-Goltz syndrome. He had a history of medulloblastoma that was treated with surgical resection followed by cranial radiotherapy and unilateral retinoblastoma. We present this case, because association of Gorlin-Goltz syndrome and retinoblastoma has not been described previously in the literature and we aimed to draw attention to radiation-induced basal cell carcinomas.

  20. CT and MRI of congenital nasal lesions in syndromic conditions

    Energy Technology Data Exchange (ETDEWEB)

    Ginat, Daniel T. [University of Chicago, Department of Radiology, Chicago, IL (United States); Robson, Caroline D. [Harvard Medical School, Department of Radiology, Boston Children' s Hospital, Boston, MA (United States)

    2015-07-15

    Congenital malformations of the nose can be associated with a variety of syndromes, including solitary median maxillary central incisor syndrome, CHARGE syndrome, Bosma syndrome, median cleft face syndrome, PHACES association, Bartsocas-Papas syndrome, Binder syndrome, duplication of the pituitary gland-plus syndrome and syndromic craniosynsotosis (e.g., Apert and Crouzon syndromes) among other craniofacial syndromes. Imaging with CT and MRI plays an important role in characterizing the nasal anomalies as well as the associated brain and cerebrovascular lesions, which can be explained by the intimate developmental relationship between the face and intracranial structures, as well as certain gene mutations. These conditions have characteristic imaging findings, which are reviewed in this article. (orig.)

  1. Hyper Ig E syndrome (Job syndrome, HIES) – radiological images of pulmonary complications on the basis of three cases

    International Nuclear Information System (INIS)

    Jończyk-Potoczna, Katarzyna; Szczawińska-Popłonyk, Aleksandra; Warzywoda, Małgorzata; Bręborowicz, Anna; Pawlak, Bogdan

    2012-01-01

    Hyperimmunoglobulinemia E syndrome (hyper-IgE syndrome, Job syndrome, HIES) is a complex immune deficiency with multiorgan clinical manifestations and diverse genetic background. The clinical triad of symptoms observed in approximately 75% of patients with HIES includes: recurrent abscesses of staphylococcal etiology, recurrent respiratory infections and elevated immunoglobulin E in serum. The paper discusses three cases of female patients presenting typical pulmonary complications of the hyper-Ig E syndrome. In the first case, the development of aspergilloma in a postinflamatory cyst was observed, in the other one, pneumonia with pleural effusion, and as a consequence of inflammatory infiltrations – fibrotic changes, giving rise to lobectomy, while in the last of these cases, the course of lung disease was complicated by formation of staphylococcal abscess. In one of the girls, bronchiectasis appeared at follow-up. Complications of pulmonary infections are the most common causes of death in hyper-Ig E syndrome. Late diagnosis significantly worsens the respiratory function and reduces the chance for normal development of a child. Introduction of comprehensive treatment, including prophylaxis, decreases the recurrences. Therefore, the important role is attributed to the radiologist in the multidisciplinary care of patients with this syndrome

  2. Are cultural values and beliefs included in U.S. based HIV interventions?

    OpenAIRE

    Wyatt, GE; Williams, JK; Gupta, A; Malebranche, D

    2012-01-01

    Objective: To determine the extent to which current United States based human immunodeficiency virus/acquired immune deficiency syndrome (HIV/AIDS) prevention and risk reduction interventions address and include aspects of cultural beliefs in definitions, curricula, measures and related theories that may contradict current safer sex messages. Method: A comprehensive literature review was conducted to determine which published human immunodeficiency virus/acquired immune deficiency syndrome (H...

  3. Los sistemas defensivos del castellum de Tamuda. ¿Torres de planta en abanico?

    Directory of Open Access Journals (Sweden)

    Bermejo Meléndez, Javier

    2014-12-01

    Full Text Available The tamuda’s castle, situated next to Tetuan (Morocco, is one the best example of roman military architecture in the Mauritanians Provincies as much for his conservation as dates that we have thanks to the different campaigns developed to Spanish protectorate and today for the University of Huelva. One of more original aspects in this sense are the architectonics dates that we have of different areas of this castellum, specially about SE and NW towers traditionally adscript as fan, hypothesis that today must to be modified since exists news dates.El castellum de Tamuda, ubicado en las proximidades de la actual Tetuán (Marruecos, supone uno de los mejores ejemplos de arquitectura militar romana en las provincias mauritanas tanto por el grado de conservación como por los datos que hasta la fecha se tienen gracias a las campañas de excavación desarrolladas durante el periodo del protectorado español y las que actualmente se están llevando a cabo por parte de la Universidad de Huelva. Uno de los aspectos más novedosos a este respecto son los datos arqueoarquitectónicos que se desprenden del análisis paramental realizado en diversas partes de este campamento, de los cuales tendrán especial relevancia las torres SE y NO tradicionalmente adscritas como de abanico, planteamiento que a día de hoy debe ser modificado dado los nuevos datos con los que se cuentan.

  4. Torres de vidrio del centro de arte "Reina Sofía" de Madrid

    Directory of Open Access Journals (Sweden)

    Íñiguez de Onzoño, José Luis

    1992-02-01

    Full Text Available The elevator towers in the Art Center "Reina Sofía" stand out in their urban setting due to their transparent partition against the opaque façade of the old "Hospital Provincial de Atocha". The material and functional characteristics of their partition are the topic of this article: - The bracing and fixation system against gravitation and thermic forces through vertical steel ties, special joints and springs in the bases. - The bracing and fixation system against horizontal actions on the corners of each piece. - The function of structural silicone as the only material between panels helping in the redistribution of stress.

    Las torres de ascensores del Centro de Arte "Reina Sofía", destacan en su entorno urbano debido a su importante cerramiento transparente, frente a la opaca fachada del antiguo Hospital Provincial de Atocha. Las características materiales y de funcionamiento de su cerramiento es lo que aquí se expone: — El sistema de anclaje y fijación ante las acciones gravitatorias y térmicas a través de tirantes verticales de acero, rótulas especiales, y muelles en sus bases. — El sistema de anclaje y fijación ante acciones horizontales en las esquinas de cada pieza. — La función de la silicona estructural, como único material de enlace entre paneles para colaborar en la redistribución de esfuerzos.

  5. The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader-Willi syndrome and Williams syndrome.

    Science.gov (United States)

    Rice, Lauren J; Gray, Kylie M; Howlin, Patricia; Taffe, John; Tonge, Bruce J; Einfeld, Stewart L

    2015-06-01

    The aim of this study was to investigate the developmental trajectories of verbal aggression, physical aggression, and temper tantrums in four genetic syndrome groups. Participants were part of the Australian Child to Adult Development Study (ACAD), which collected information from a cohort of individuals with an intellectual disability at five time points over 18 years. Data were examined from a total of 248 people with one of the four following syndromes: Down syndrome, Fragile X syndrome, Prader-Willi syndrome, or Williams syndrome. Changes in behaviors were measured using validated items from the Developmental Behavior Checklist (DBC). The results indicate that, while verbal aggression shows no evidence of diminishing with age, physical aggression, and temper tantrums decline with age before 19 years for people with Down syndrome, Fragile X syndrome, and William syndrome; and after 19 years for people with Prader-Willi syndrome. These findings offer a somewhat more optimistic outlook for people with an intellectual disability than has previously been suggested. Research is needed to investigate the mechanisms predisposing people with PWS to persistence of temper tantrums and physical aggression into adulthood. © 2015 Wiley Periodicals, Inc.

  6. Annual Costs of Care for Pediatric Irritable Bowel Syndrome, Functional Abdominal Pain, and Functional Abdominal Pain Syndrome

    NARCIS (Netherlands)

    Hoekman, Daniël R.; Rutten, Juliette M. T. M.; Vlieger, Arine M.; Benninga, Marc A.; Dijkgraaf, Marcel G. W.

    2015-01-01

    To estimate annual medical and nonmedical costs of care for children diagnosed with irritable bowel syndrome (IBS) or functional abdominal pain (syndrome; FAP/FAPS). Baseline data from children with IBS or FAP/FAPS who were included in a multicenter trial (NTR2725) in The Netherlands were analyzed.

  7. Translating E-Mental Health Into Practice: What Are the Barriers and Enablers to E-Mental Health Implementation by Aboriginal and Torres Strait Islander Health Professionals?

    Science.gov (United States)

    Singer, Judy; DuBois, Simon; Hyde, Kelly

    2017-01-01

    Background With increasing evidence for the effectiveness of e-mental health interventions for enhancing mental health and well-being, a growing challenge is how to translate promising research findings into service delivery contexts. A 2012 e-mental health initiative by the Australian Federal Government (eMHPrac) has sought to address the issue through several strategies, one of which has been to train different health professional workforces in e-mental health (e-MH). Objective The aim of the study was to report on the barriers and enablers of e-MH uptake in a cohort of predominantly Aboriginal and Torres Strait Islander health professionals (21 Indigenous, 5 non-Indigenous) who occupied mainly support or case management roles within their organizations. Methods A 3- or 2-day e-MH training program was followed by up to 5 consultation sessions (mean 2.4 sessions) provided by the 2 trainers. The trainer-consultants provided written reports on each of the 30 consultation sessions for 7 consultation groups. They were also interviewed as part of the study. The written reports and interview data were thematically analyzed by 2 members of the research team. Results Uptake of e-MH among the consultation group was moderate (22%-30% of participants). There were significant organizational barriers to uptake resulting from procedural and administrative problems, demanding workloads, prohibitive policies, and a lack of fit between the organizational culture and the introduction of new technologies. Personal barriers included participant beliefs about the applicability of e-MH to certain populations, and workers’ lack of confidence and skills. However, enthusiastic managers and tech-savvy champions could provide a counter-balance as organizational enablers of e-MH; and the consultation sessions themselves appear to have enhanced skills and confidence, shifted attitudes to new technologies, and seeded a perception that e-MH could be a valuable health education resource

  8. Forearm Compartment Syndrome: Evaluation and Management.

    Science.gov (United States)

    Kistler, Justin M; Ilyas, Asif M; Thoder, Joseph J

    2018-02-01

    Compartment syndrome of the forearm is uncommon but can have devastating consequences. Compartment syndrome is a result of osseofascial swelling leading to decreased tissue perfusion and tissue necrosis. There are numerous causes of forearm compartment syndrome and high clinical suspicion must be maintained to avoid permanent disability. The most widely recognized symptoms include pain out of proportion and pain with passive stretch of the wrist and digits. Early diagnosis and decompressive fasciotomy are essential in the treatment of forearm compartment syndrome. Closure of fasciotomy wounds can often be accomplished by primary closure but many patients require additional forms of soft tissue coverage procedures. Copyright © 2017 Elsevier Inc. All rights reserved.

  9. Budd-Chiari syndrome complicating hydatid liver disease

    International Nuclear Information System (INIS)

    Robotti, G.C.; Meister, F.; Schroeder, R.; Bern Univ.; Bern Univ.

    1985-01-01

    In two female patients a diagnosis of Budd-Chiari syndrome secondary to hepatic echinococcosis was established by CT. One patient developed acute Budd-Chiari syndrome secondary to E. granulosus lesions of the liver. The second patient presented with a picture of chronic Budd-Chiari syndrome secondary to alveolar echinococcosis. CT findings of Budd-Chiari syndrome included ascites, low density areas in the liver parenchyma, hypertrophy of the caudate lobe, non visualisation of the hepatic veins, occlusion of the retrohepatic inferior vena cava and enlarged retroperitoneal veins. (orig.) [de

  10. Waardenburg syndrome in four Mexican patients.

    Science.gov (United States)

    Aguilar Caso, Sandra I; Ortiz Nieva, Gabriela

    2009-01-01

    Waardenburg syndrome is a hereditary auditory-pigmentary syndrome. The major features include pigmentary disturbances and congenital deafness. Clinical findings are extremely variable, not only at the authors' institution but also in the literature. The authors describe four patients who presented with various clinical features and different genetic pedigree penetration.

  11. Atypical presentations of Wolframs syndrome

    Directory of Open Access Journals (Sweden)

    S Saran

    2012-01-01

    Full Text Available Background: Wolfram syndrome is a rare hereditary or sporadic neurodegenerative disorder also known as DIDMOAD. The classically described presentation is of insulin-dependent diabetes, followed by optic atrophy, central diabetes insipidus, and sensory neural deafness. Also included are less well-described presentations of Wolframs syndrome. We here present three cases of atypical presentation of this syndrome. Case 1: A 15-year-old boy with insulin-dependent diabetes was presented for evaluation of depressive symptoms associated with suicidal tendency. Neuropsychiatric manifestations are described with Wolframs syndrome, and wolframin gene, in recessive inheritance, is associated with psychiatric illnesses without other manifestations of Wolframs syndrome. Case 2: A 17-year-old diabetic boy on insulin with good control of blood sugar presented for evaluation of delayed puberty. Central hypogonadism and other anterior pituitary hormone dysfunctions are the less publicized hormone dysfunctions in Wolframs syndrome. Case 3: A 23-year-old female who was on insulin for diabetes for the past 14 years, got admitted for evaluation of sudden loss of vision. This patient had developed a vitreous hemorrhage and, on evaluation, was found to have optic atrophy, sensory neural hearing loss, and diabetes insipidus, and presented differently from the gradual loss of vision described in Wolframs syndrome. Conclusion: Wolframs syndrome being a multisystem degenerative disorder can have myriad other manifestations than the classically described features. Neuropsychiatric manifestations, depression with suicidal risk, central hypogonadism, and secondary adrenal insufficiency are among the less well-described manifestations of this syndrome.

  12. Diagnosis and Management of Iridocorneal Endothelial Syndrome

    Science.gov (United States)

    Sacchetti, Marta; Mantelli, Flavio; Macchi, Ilaria; Ambrosio, Oriella; Rama, Paolo

    2015-01-01

    The iridocorneal endothelial (ICE) syndrome is a rare ocular disorder that includes a group of conditions characterized by structural and proliferative abnormalities of the corneal endothelium, the anterior chamber angle, and the iris. Common clinical features include corneal edema, secondary glaucoma, iris atrophy, and pupillary anomalies, ranging from distortion to polycoria. The main subtypes of this syndrome are the progressive iris atrophy, the Cogan-Reese syndrome, and the Chandler syndrome. ICE syndrome is usually diagnosed in women in the adult age. Clinical history and complete eye examination including tonometry and gonioscopy are necessary to reach a diagnosis. Imaging techniques, such as in vivo confocal microscopy and ultrasound biomicroscopy, are used to confirm the diagnosis by revealing the presence of “ICE-cells” on the corneal endothelium and the structural changes of the anterior chamber angle. An early diagnosis is helpful to better manage the most challenging complications such as secondary glaucoma and corneal edema. Treatment of ICE-related glaucoma often requires glaucoma filtering surgery with antifibrotic agents and the use of glaucoma drainage implants should be considered early in the management of these patients. Visual impairment and pain associated with corneal edema can be successfully managed with endothelial keratoplasty. PMID:26451377

  13. Mosaic Turner syndrome associated with schizophrenia.

    Science.gov (United States)

    Jung, Sook Young; Park, Joo Won; Kim, Dong Hyun; Jun, Yong Hoon; Lee, Jeong Seop; Lee, Ji Eun

    2014-03-01

    Turner syndrome is a sex-chromosome disorder; occurring in 1 in 2,500 female births. There are sporadic few case reports of concomitant Turner syndrome with schizophrenia worldwide. Most Turner females had a 45,X monosomy, whereas the majority of comorbidity between Turner syndrome and schizophrenia had a mosaic karyotype (45,X/46,XX). We present a case of a 21-year-old woman with Turner syndrome, mosaic karyotype (45,X/46,XX), showing mental retardation, hypothyroidism, and schizophrenia. HOPA gene within Xq13 is related to mental retardation, hypothyroidism, and schizophrenia. Our case may be a potential clue which supports the hypothesis for involvement of genes on X chromosome in development of schizophrenia. Further studies including comorbid cases reports are need in order to discern the cause of schizophrenia in patients having Turner syndrome.

  14. The rock-cut tomb of Bolores (Torres Vedras: an interdisciplinary approach to understanding the social landscape of the Late Neolithic/Copper Age of the Iberian Peninsula

    Directory of Open Access Journals (Sweden)

    Lillios, Katina T.

    2014-12-01

    Full Text Available To better understand the sociopolitical landscape of the Portuguese Estremadura during the Late Neolithic/Copper Age, interdisciplinary excavations were conducted at Bolores (Torres Vedras, in the Sizandro River Valley. Following a test season in 1986, a University of Iowa team conducted four campaigns between 2007 and 2012. Bolores is a rock-cut tomb used primarily between 2800-2600 cal BC for the burial of adults, adolescents, and children (MNI=36. The architectural, material cultural, and bioarchaeological evidence suggests that Bolores housed the remains of a distinctive group of local individuals who marked their difference from other burial populations in the Sizandro and Estremadura through material culture and tomb architecture. Social differences were denoted spatially and through offerings of material goods. No social stratification is evident, however, that would suggest a state-level society: there are no wealthy child burials and no significant health or dietary disparities within this population or between it and others in the region.Para comprender mejor el paisaje sociopolítico de la Extremadura portuguesa durante el Neolítico Final/Edad del Cobre se han llevado a cabo excavaciones interdisciplinares en Bolores (Torres Vedras, en el valle del río Sizandro. Tras una campaña de prueba en 1986, un equipo de la Universidad de Iowa realizó cuatro campañas entre 2007 y 2012. Bolores es una tumba hipogea que fue utilizada principalmente entre 2800 y 2600 cal BCE como enterramiento colectivo para adultos, adolescentes y niños (NMI=36. Los datos arquitectónicos, bioarqueológicos y de cultura material analizados hasta la fecha sugieren que Bolores albergó los restos de un grupo social distintivo compuesto de individuos locales que marcaban sus diferencias con otras poblaciones funerarias del Sizandro y Extremadura portuguesa mediante la cultura material y la arquitectura funeraria. Las diferencias sociales en la población de

  15. Endocrine neoplasms in familial syndromes of hyperparathyroidism.

    Science.gov (United States)

    Li, Yulong; Simonds, William F

    2016-06-01

    Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. © 2016 Society for Endocrinology.

  16. [The syndrome of Cotard: an overview].

    Science.gov (United States)

    Van den Eynde, F; Debruyne, H; Portzky, M; De Saedeleer, S; Audenaert, K

    2008-01-01

    There is increasing controversy about whether psychiatric illnesses should be divided into categories. One of the reasons is that such a categorial system, by its very nature, cannot provide a detailed description of specific psychopathological symptoms. A patient with Cotard's syndrome, for instance, is characterised by a nihilistic delusion relating to his own body and the syndrome does not fit into any one category. We report on a case of Cotard's syndrome encountered at our clinic. To provide an overview of the characteristics of Cotard's syndrome, including its history, phenomenology, pathogenesis and treatment. A Medline search was conducted for the period 1980-2006 using the search term 'Cotard$'. This resulted in 68 publications, of which 18 were not used. Cross-references were used as well. Cotard's syndrome cannot be fitted unambiguously into any one category of the current classification system. Current evidence regarding Cotard's syndrome is based mainly on case studies and therefore no clarity can be obtained about the various aspects of the syndrome, such as prevalence, pathogenesis, treatment.

  17. Eye Development Genes and Known Syndromes

    Science.gov (United States)

    Slavotinek, Anne M.

    2011-01-01

    Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33–95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, Oculocardiafaciodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6. PMID:22005280

  18. Binaural masking release in children with Down syndrome.

    Science.gov (United States)

    Porter, Heather L; Grantham, D Wesley; Ashmead, Daniel H; Tharpe, Anne Marie

    2014-01-01

    Binaural hearing results in a number of listening advantages relative to monaural hearing, including enhanced hearing sensitivity and better speech understanding in adverse listening conditions. These advantages are facilitated in part by the ability to detect and use interaural cues within the central auditory system. Binaural hearing for children with Down syndrome could be impacted by multiple factors including, structural anomalies within the peripheral and central auditory system, alterations in synaptic communication, and chronic otitis media with effusion. However, binaural hearing capabilities have not been investigated in these children. This study tested the hypothesis that children with Down syndrome experience less binaural benefit than typically developing peers. Participants included children with Down syndrome aged 6 to 16 years (n = 11), typically developing children aged 3 to 12 years (n = 46), adults with Down syndrome (n = 3), and adults with no known neurological delays (n = 6). Inclusionary criteria included normal to near-normal hearing sensitivity. Two tasks were used to assess binaural ability. Masking level difference (MLD) was calculated by comparing threshold for a 500-Hz pure-tone signal in 300-Hz wide Gaussian noise for N0S0 and N0Sπ signal configurations. Binaural intelligibility level difference was calculated using simulated free-field conditions. Speech recognition threshold was measured for closed-set spondees presented from 0-degree azimuth in speech-shaped noise presented from 0-, 45- and 90-degree azimuth, respectively. The developmental ability of children with Down syndrome was estimated and information regarding history of otitis media was obtained for all child participants via parent survey. Individuals with Down syndrome had higher masked thresholds for pure-tone and speech stimuli than typically developing individuals. Children with Down syndrome had significantly smaller MLDs than typically developing children. Adults

  19. Neck and arm pain syndromes

    DEFF Research Database (Denmark)

    de las Peñas, César Fernández; Cleland, Joshua; Huijbregts, Peter

    approaches.It uniquely addresses the expanding role of the various health care professions which require increased knowledge and skills in screening for contra-indications and recognizing the need for medical-surgical referral. Neck and Arm Pain Syndromes also stresses the integration of experiential......The first of its kind, Neck and Arm Pain Syndromes is a comprehensive evidence- and clinical-based book, covering research-based diagnosis, prognosis and management of neuromusculoskeletal pathologies and dysfunctions of the upper quadrant, including joint, muscle, myofascial and neural tissue...... of the most commonly seen pain syndromes in clinical practice over 800 illustrations demonstrating examination procedures and techniques....

  20. Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

    Science.gov (United States)

    Lacaria, Melanie; Srour, Myriam; Michaud, Jacques L; Doja, Asif; Miller, Elka; Schwartzentruber, Jeremy; Goldsmith, Claire; Majewski, Jacek; Boycott, Kym M

    2017-06-01

    Distal deletion of the long arm of chromosome 10 is associated with a dysmorphic craniofacial appearance, microcephaly, behavioral issues, developmental delay, intellectual disability, and ocular, urogenital, and limb abnormalities. Herein, we present clinical, molecular, and cytogenetic investigations of four patients, including two siblings, with nearly identical terminal deletions of 10q26.3, all of whom have an atypical presentation of this syndrome. Their prominent features include ataxia, mild-to-moderate intellectual disability, and hyperemia of the hands and feet, and they do not display many of the other features commonly associated with deletions of this region. These results point to a novel gene locus associated with ataxia and highlight the variability of the clinical presentation of patients with deletions of this region. © 2017 Wiley Periodicals, Inc.

  1. [Mania associated with Usher syndrome type II].

    Science.gov (United States)

    Praharaj, Samir Kumar; Acharya, Mahima; Sarvanan, Arul; Kongasseri, Sreejayan; Behere, Rishikesh V; Sharma, P S V N

    2012-01-01

    Usher syndrome (or Hallgren syndrome) is an autosomal recessive genetic disorder characterized by sensorineural deafness, retinitis pigmentosa, and variable vestibular deficit; Usher syndrome type II is the most common form. Various neuropsychiatric disorders have been reported to occur in those with Usher syndrome, including schizophrenia-like disorder, atypical psychosis, recurrent depressive illness, neurotic disorder, and mental retardation; however, bipolar disorder is not common in those with Usher syndrome. Herein we describe a 30-year-old male with Usher syndrome type II that developed features indicative of a probable manic episode. The patient had complete remission of symptoms in response to treatment with olanzapine 20 mg d-1. In persons with dual sensory impairment there are inherent problems with assessment and diagnosis is difficult due to their limited communication abilities. The diagnosis of Usher syndrome depends heavily on behavioral observation and disturbances in vegetative functions.

  2. [Childhood periodic syndromes].

    Science.gov (United States)

    Cuvellier, J-C; Lépine, A

    2010-01-01

    This review focuses on the so-called "periodic syndromes of childhood that are precursors to migraine", as included in the Second Edition of the International Classification of Headache Disorders. Three periodic syndromes of childhood are included in the Second Edition of the International Classification of Headache Disorders: abdominal migraine, cyclic vomiting syndrome and benign paroxysmal vertigo, and a fourth, benign paroxysmal torticollis is presented in the Appendix. The key clinical features of this group of disorders are the episodic pattern and intervals of complete health. Episodes of benign paroxysmal torticollis begin between 2 and 8 months of age. Attacks are characterized by an abnormal inclination and/or rotation of the head to one side, due to cervical dystonia. They usually resolve by 5 years. Benign paroxysmal vertigo presents as sudden attacks of vertigo, accompanied by inability to stand without support, and lasting seconds to minutes. Age at onset is between 2 and 4 years, and the symptoms disappear by the age of 5. Cyclic vomiting syndrome is characterized in young infants and children by repeated stereotyped episodes of pernicious vomiting, at times to the point of dehydration, and impacting quality of life. Mean age of onset is 5 years. Abdominal migraine remains a controversial issue and presents in childhood with repeated stereotyped episodes of unexplained abdominal pain, nausea and vomiting occurring in the absence of headache. Mean age of onset is 7 years. Both cyclic vomiting syndrome and abdominal migraine are noted for the absence of pathognomonic clinical features but also for the large number of other conditions to be considered in their differential diagnoses. Diagnostic criteria, such as those of the Second Edition of the International Classification of Headache Disorders and the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition, have made diagnostic approach and management easier. Their diagnosis

  3. Investigations on the nutrient demands of different balsam poplar clones (Populus trichocarpa Torr. et Grey) based on growth, nutrient uptake, and vapor exchange. Untersuchungen ueber die Naehrstoffansprueche verschiedener Balsam-Pappelklone (Populus trichocarpa Torr. et Grey) in Hinsicht auf das Wachstum, die Naehrstoffaufnahme und den Gaswechsel

    Energy Technology Data Exchange (ETDEWEB)

    Griese, C.

    1991-01-01

    This work tries to describe the nutrient demands of six different, very fast-growing clones of the species Populus trichocarpa Torr. Et. Grey. Relevant are the capability for taking up different nutrients, and the plants' efficiency in using these nutrients for vapour exchange of the leaves (photosynthesis, respiration in the dark, transpiration) as well as for increasing biomass. A further aim pursued with these measurements is the attempt to explain the different growth of these six popular clones. Here, field experiments have shown a gradiation of the clones' growth performance. From the first to the sixth clone, growth performance declines steadily. Should there be differences among the clones as to the physiological, biometric and phenological variables to be investigated, then this work might lead to the identification of growth-determining factors suitable for postulating of the investigated clones. (orig.).

  4. Metabolic Syndrome and Breast Cancer Risk.

    Science.gov (United States)

    Wani, Burhan; Aziz, Shiekh Aejaz; Ganaie, Mohammad Ashraf; Mir, Mohammad Hussain

    2017-01-01

    The study was meant to estimate the prevalence of metabolic syndrome in patients with breast cancer and to establish its role as an independent risk factor on occurrence of breast cancer. Fifty women aged between 40 and 80 years with breast cancer and fifty controls of similar age were assessed for metabolic syndrome prevalence and breast cancer risk factors, including age at menarche, reproductive status, live births, breastfeeding, and family history of breast cancer, age at diagnosis of breast cancer, body mass index, and metabolic syndrome parameters. Metabolic syndrome prevalence was found in 40.0% of breast cancer patients, and 18.0% of those in control group ( P = 0.02). An independent and positive association was seen between metabolic syndrome and breast cancer risk (odds ratio = 3.037; 95% confidence interval 1.214-7.597). Metabolic syndrome is more prevalent in breast cancer patients and is an independent risk factor for breast cancer.

  5. Worldwide distribution of Waardenburg syndrome.

    Science.gov (United States)

    Nayak, Chetan S; Isaacson, Glenn

    2003-09-01

    To clarify the multiracial occurrence of Waardenburg syndrome, we present a case series and literature review. A computerized review of the English-language literature was conducted to assess the distribution of reported occurrences of Waardenburg syndrome in populations around the world. We detail the clinical features of 2 family cohorts: one of Western European origin and the other from South Asia. A computerized literature review found sporadic cases of the syndrome in many ethnic groups, including Japanese, Taiwanese, and Middle Eastern families. The highest reported incidence is among Kenyan Africans. Waardenburg syndrome accounts for between 2% and 5% of cases of congenital deafness. It was first described in Northern European cohorts and is widely identified in fair-skinned populations. We hope to raise awareness of the worldwide distribution of this important cause of hearing loss.

  6. Seckel syndrome: an overdiagnosed syndrome.

    OpenAIRE

    Thompson, E; Pembrey, M

    1985-01-01

    Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should be paid to fulfillment of the major criteria defined by Seckel before the diagnosis is made. There r...

  7. Cerebro-costo-mandibular syndrome: Report of two cases.

    Science.gov (United States)

    Abdalla, Wael; Panigrahy, Ashok; Bartoletti, Stefano C

    2011-01-01

    Cerebro-costo-mandibular syndrome (CCMS) is a rare syndrome that includes a constellation of mandibular hypoplasia and posterior rib defects as its basic features. Additional features can include hearing loss, tracheal cartilage abnormalities, scoliosis, elbow hypoplasia, and spina bifida. Here we report two cases of CCMS and discuss the reported long-term outcome of the disease.

  8. Juvenile polyposis syndrome

    Science.gov (United States)

    Hsiao, Yi-Han; Wei, Chin-Hung; Chang, Szu-Wen; Chang, Lung; Fu, Yu-Wei; Lee, Hung-Chang; Liu, Hsuan-Liang; Yeung, Chun-Yan

    2016-01-01

    Abstract Background: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. Methods: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. Results: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. Conclusion: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages. PMID:27631205

  9. Moyamoya disease associated with antiphospholipid syndrome

    Directory of Open Access Journals (Sweden)

    Mahmut Abuhandan

    2011-12-01

    Full Text Available Moyamoya (MMD is a disease that often involves the vascular structures of anterior cerebral circulation, particularly the proximal segments of anterior and middle cerebral arteries. The etiology of the disease is unknown. MMD often presents with cerebral ischemia and rarely with cerebral hemorrhage. The pathology is termed Moyamoya syndrome (MMS when the pathological cerebral angiography findings are accompanied by meningitis, neurofibromatosis, neoplasm, Down syndrome or polycystic kidney disease. Autoimmune diseases including Graves’ disease, Behcet’s disease and antiphospholipid syndrome might also lead to the development of MMS. In this manuscript, we presented an interesting case of MMD associated with antiphospholipid syndrome, which is quite a rare cause of acute cerebral infarction in childhood

  10. Gorlin syndrome and bilateral ovarian fibroma

    Science.gov (United States)

    Pirschner, Fernanda; Bastos, Pollyana Marçal; Contarato, George Luiz; Bimbato, Anna Carolina Bon Lima; Filho, Antônio Chambô

    2012-01-01

    INTRODUCTION Gorlin syndrome (GS), also known as nevoid basal cell carcinoma syndrome (NBCCS), is a rare hereditary, autosomal dominant disease that affects various systems. Its prevalence is estimated at 1/57,000 to 1/256,000 of the population. It is characterized by basal cell carcinomas, multiple odontogenic keratocysts, skeletal abnormalities and ovarian fibroma, among other disorders. PRESENTATION OF CASE To report the case of a young patient with Gorlin syndrome and bilateral ovarian fibroma. DISCUSSION A 20-year old patient with Gorlin syndrome presented with facial asymmetry, broad nasal root, dental abnormalities, micrognathism, convergent strabismus, multiple pigmented lesions on the trunk and face, pectus excavatum, kyphoscoliosis and a palpable mass in the abdomen occupying the entire pelvic region. CONCLUSION Gorlin–Goltz syndrome is a hereditary pathology that includes numerous clinical manifestations. Diagnosis is clinical and genetic confirmation is unnecessary. PMID:22771908

  11. Interventions for the treatment of Frey's syndrome.

    Science.gov (United States)

    Li, Chunjie; Wu, Fanglong; Zhang, Qi; Gao, Qinghong; Shi, Zongdao; Li, Longjiang

    2015-03-17

    Frey's syndrome is a rare disorder, the symptoms of which include sweating, flushing and warming over the preauricular and temporal areas following a gustatory stimulus. It often occurs in patients who have undergone parotidectomy, submandibular gland surgery, radical neck dissection, infection and traumatic injury in the parotid region, and is caused by the aberrant regrowth of facial autonomic nerve fibres. Currently there are several options used to treat patients with Frey's syndrome; for example, the topical application of anticholinergics and antiperspirants, and the intradermal injection of botulinum toxin. It is uncertain which treatment is most effective and safe. To assess the efficacy and safety of different interventions for the treatment of Frey's syndrome. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; ICTRP and additional sources for published and unpublished trials. The date of the search was 28 April 2014. We included randomised or quasi-randomised controlled trials (RCTs) in participants diagnosed with Frey's syndrome using a clinical standard such as Minor's starch-iodine test. We planned to include trials in which participants received any intervention versus no treatment (observation) or an alternative intervention, with or without a second active treatment. Our primary outcome measures were success rate (as assessed clinically by Minor's starch-iodine test, the iodine-sublimated paper histogram method, blotting paper technique or another method) and adverse events. Our secondary outcome measure was success rate as assessed by patients (disappearance or improvement of symptoms). We used the standard methodological procedures expected by The Cochrane Collaboration. We identified no RCTs or quasi-RCTs that fulfilled the inclusion criteria. Our searches retrieved eight potentially relevant studies, but after

  12. Unusual Presentation of Ulcerative Postauricular Swelling as ...

    African Journals Online (AJOL)

    Sebaceous cell carcinoma is an uncommon, cutaneous tumor, arising from the sebaceous glands. It was first well-described by. Allaire in 1891.[1] Mostly these tumors have no obvious etiology, and only a few are associated with Muir–Torre syndrome (MTS). Sebaceous gland tumor may crop up anywhere on the body,.

  13. Wolf-Hirschhorn Syndrome

    African Journals Online (AJOL)

    Extract Studio

    she had the distinctive facial features of Wolf-Hirschhorn syndrome that included hyperteleorism, ... The PDA noted at birth had closed by 3 months and there was no other cardiac .... followed by pulmonary stenosis, ventricular septal defects,.

  14. [Post-Lyme disease syndrome].

    Science.gov (United States)

    Błaut-Jurkowska, Justyna; Jurkowski, Marcin

    2016-02-01

    Lyme disease is a chronic infectious disease caused by the bacteria, spirochete of the Borrelia type. Skin, nervous system, musculoskeletal system and heart may be involved in the course of the disease. The prognosis for properly treated Lyme disease is usually good. However, in about 5% of patients so called Post-Lyme disease syndrome (PLSD) develops. It is defined as a syndrome of subjective symptoms persisting despite proper treatment of Borrelia burgdorferi infection. The most common symptoms include: fatigue, muscle and joint pain, and problems with memory and concentration. Pathogenesis of PLDS remains unknown. The differential diagnosis should include neurological, rheumatic and mental diseases. Till now there is no causative treatment of PLDS. In relieving symptom rehabilitation, painkillers, anti-inflammatory and antidepressants medicines are recommended. Emotional and psychological supports are also necessary. Non-specific symptoms reported by patients with post- Lyme disease syndrome raise the suspicion of other pathologies. This can lead to misdiagnosis and implementation of unnecessary, potentially harmful to the patient's therapy. An increase in tick-borne diseases needs to increase physicians awareness of these issues. © 2016 MEDPRESS.

  15. Waardenburg syndrome: A report of three cases

    Directory of Open Access Journals (Sweden)

    Ghosh Sudip

    2010-01-01

    Full Text Available Waardenburg syndrome (WS is a rare autosomally inherited and genetically heterogeneous disorder of neural crest cell development with distinct cutaneous manifestations. Based on the clinical presentations, four subtypes of the disease are recognized. A careful clinical evaluation is required to differentiate various types of WS and other associated auditory-pigmentary syndromes. We describe a case series of WS to highlight the wide spectrum of manifestations of the syndrome including a rare association.

  16. The optimization of a tubular condensation cryopump for pressures below 10/sup -13/ Torr (for intersecting storage rings for protons)

    CERN Document Server

    Benvenuti, C

    1974-01-01

    A cryopump design of tubular geometry is presented, which incorporates in its vacuum system only a very small fraction of ambient temperature walls. Furthermore, the total amount of the 300K radiation reaching the cold baffles is reduced by about two orders of magnitude. This has the double advantage that the baffles can be cooled at lower temperatures and can be allowed to be more 'transparent' to radiation and hence to molecules. The new model has been entirely optimised both for molecular and radiation transmission by a Monte Carlo method. It is designed to have a pumping speed of 3000 ls/sup -1/ for H/sub 2/ at the two entrances, an axial conductance providing a pressure drop across the pump of a factor of ten and a limit pressure in the 10/sup -14/ Torr range. (6 refs).

  17. Adult polysplenia syndrome. A case report

    International Nuclear Information System (INIS)

    Usamentiaga, E.; Garcia-Valtuille, R.; Abascal, F.; Artiz, A.

    1997-01-01

    Polysplenia syndrome is a rare combination of congenital anomalies. It includes in a variable range: abdominal heterotaxy with multiples splenic nodules on the right side, cardiopulmonary anomalies and incomplete development of the inferior vena cava. We present the findings of a case of polysplenia syndrome performed by CT in an Adult asyntomatic patient. 11 refs

  18. Diagnostic criteria for constitutional mismatch repair deficiency syndrome

    DEFF Research Database (Denmark)

    Wimmer, Katharina; Kratz, Christian P; Vasen, Hans F A

    2014-01-01

    Constitutional mismatch repair deficiency (CMMRD) syndrome is a distinct childhood cancer predisposition syndrome that results from biallelic germline mutations in one of the four MMR genes, MLH1, MSH2, MSH6 or PMS2. The tumour spectrum is very broad, including mainly haematological, brain....... They include multiple hyperpigmented and hypopigmented skin areas, brain malformations, pilomatricomas, a second childhood malignancy, a Lynch syndrome (LS)-associated tumour in a relative and parental consanguinity. According to the scoring system, CMMRD should be suspected in any cancer patient who reaches...... patient. Tumours highly specific for CMMRD syndrome are assigned three points, malignancies overrepresented in CMMRD two points and all other malignancies one point. According to their specificity for CMMRD and their frequency in the general population, additional features are weighted with 1-2 points...

  19. Poder predictivo de la edad y la inteligencia en el desempeño de una tarea de planificación: Torre de Londres

    Directory of Open Access Journals (Sweden)

    Irene Injoque-Ricle

    2017-02-01

    Full Text Available La planificación es un concepto clave de la función ejecutiva que permite a las personas generar un plan de acción necesario para la resolución eficaz de un problema con un propósito. Se trata de una capacidad que se desarrolla desde la infancia hasta mediados de la adolescencia y es fundamental para un funcionamiento cotidiano eficaz. El objetivo de este trabajo es determinar el poder predictivo de la edad y la inteligencia sobre la planificación en una muestra de niños de 6 a 13 años de edad. La muestra estuvo conformada por 240 niños divididos equitativamente en cuatro grupos etarios: 6, 8, 11 y 13. Se administró la prueba Torre de Londres y dos pruebas de la Escala de Inteligencia para Niños de Wechsler. Para determinar el grado de asociación entre las variables, se realizaron análisis de correlación, y para determinar el poder predictivo de la edad y la inteligencia sobre la planificación se realizó un análisis de regresión lineal. Los resultados muestran que ambas variables —edad e inteligencia— se asocian positivamente con el desempeño en Torre de Londres, y que también esas variables tienen un poder predictivo sobre el rendimiento en la tarea de planificación. Los datos permiten concluir que la planificación es una habilidad que se desarrolla a lo largo de la infancia y principios de la adolescencia, y que el nivel intelectual tiene un efecto en la capacidad para generar planes a partir de problemas con un propósito.

  20. Anserine syndrome.

    Science.gov (United States)

    Helfenstein, Milton; Kuromoto, Jorge

    2010-01-01

    Knee pain is a common complaint in clinical practice, and pes anserinus tendino-bursitis syndrome (PATB) has been frequently diagnosed based only on clinical features that may cause equivocal interpretations. Patients complain of characteristic spontaneous medial knee pain with tenderness in the inferomedial aspect of the joint. Studies with different imaging modalities have been undertaken during the last years to identify whether these patients suffer from bursitis, tendinitis, or both. Nevertheless, little is known regarding the structural defect responsible for this disturbance. Due to these problems and some controversies, we suggest the term "anserine syndrome" for this condition. Diabetes Mellitus is a known predisposing factor for this syndrome. Overweight and osteoarthritis seem to represent additional risk factors; however, their role in the pathophysiology of the disease is not yet understood. Treatment includes non-steroidal anti-inflammatory drugs, physiotherapy, and injections of corticosteroid, with highly variable responses, from 10 days to 36 months to achieve recovery. The lack of knowledge about its epidemiological, etiological, and pathophysiological aspects requires future studies for this common and intriguing disorder.

  1. Clinical presentation of Churg-Strauss syndrome in children: A 12-year-old-boy with ANCA-negative Churg-Strauss syndrome.

    Science.gov (United States)

    Razenberg, Femke G E M; Heynens, Jan W C M; Jan de Vries, Geeuwke; Duijts, Liesbeth; de Jongste, Johan C; de Blic, Jacques; Rosias, Philippe P R

    2012-01-01

    Churg-Strauss syndrome is an uncommon multisystem disorder characterized by asthma, eosinophilia and vasculitis. We report on a 12-year-old boy with asthma and deterioration of his general condition, who was eventually diagnosed with an ANCA-negative Churg-Strauss syndrome. The propositus included, 50 cases of childhood Churg-Strauss syndrome have been reported. The patient characteristics and clinical characteristics of these children are summarized. The respiratory tract is most frequently involved with pulmonary infiltrates, asthma and sinusitis. Early recognition of childhood Churg-Strauss syndrome is important as delayed diagnosis can lead to severe organ involvement, and possible fatal outcome.

  2. Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet–Biedl syndrome

    Science.gov (United States)

    Viswanathan, Vibhu Krishnan; Kanna, Rishi Mugesh; Shetty, Ajoy Prasad; Rajasekaran, S

    2017-01-01

    Bardet–Biedl syndrome (BBS) is a rare, autosomal-recessive, debilitating genetic disorder, which can present with multitudinous systemic clinical features including rod-cone dystrophy, polydactyly, Frohlich-like central obesity, mental retardation, hypogonadism, and renal anomalies. Diverse neuromuscular manifestations in patients afflicted by this heterogeneous disorder include ataxia, cervical, and thoracic canal stenoses, presenting as spastic quadriparesis and other gait disturbances. We report a young patient with BBS, who had presented with acute flaccid paraparesis due to severe primary lumbar canal stenosis. She underwent immediate lumbar decompression and discectomy following which she recovered significantly. Acute cauda equina syndrome due to primary lumbar canal stenosis has not been reported as a clinical feature of BBS previously. PMID:28566787

  3. Evidence Refuting the Existence of Autoimmune/Autoinflammatory Syndrome Induced by Adjuvants (ASIA)

    DEFF Research Database (Denmark)

    Ameratunga, Rohan; Gillis, David; Gold, Michael

    2017-01-01

    Autoimmune/autoinflammatory syndrome induced by adjuvants (ASIA) was described in 2011. Over time the condition and its triggers have broadened to include several autoimmune disorders, the macrophagic myofasciitis syndrome, the Gulf war syndrome, the sick building syndrome, siliconosis...

  4. RPGR-containing protein complexes in syndromic and non ...

    Indian Academy of Sciences (India)

    2009-12-31

    Dec 31, 2009 ... ated with syndromic disorders, including Joubert syndrome,. Meckel–Gruber .... Foundation Fighting Blindness (FFB), and Midwest Eye Banks and ..... Meindl A., Dry K., Herrmann K., Manson F., Ciccodicola A., Edgar. A. et al.

  5. Hydrogeological and Hydrogeochemical Modelling of the Alicun de las Torres Termal System (Province of Granada). Isotope Hydrochemistry and Gases in Groundwaters; Modelizacion Hidrogeologica e Hidrogeoquimica del Sistema Termal de Alicun de Las Torres (Provincia de Granada). Hidroquimica Isotopica y Gases en Aguas

    Energy Technology Data Exchange (ETDEWEB)

    Prado Perez, A. J.; Delgado, A.; Crespo, M. T.; Martin, A.; Vaselli, O.; Perez del Villar, L.

    2010-11-17

    In the framework of a Singular Strategic Project entitled: {sup A}dvanced Technologies of Carbon, Capture and Storage (CCS){sup ,} supported by the MICINN (Spain) and the FEDER founds (EU), specifically in the Carbon Storage Task, a comprehensive study on the CO{sub 2} leakage as DIC (Dissolved Inorganic Carbon) in the Alicun de Las Torres (Prov. of Granada) natural analogue thermal system was envisaged. This analogous system is characterised by the presence of a very important travertine formation, which can be considered as a permanent and stable sink for CO{sub 2}. In order to explain the formation of these travertine mass an hydrogeological and hydrogeochemical model of the area has been established by using the hydrochemical data, the stable and radioactive isotope characteristics, the dissolved inorganic carbon, as well as the chemical and isotopic composition of the free and dissolved gases of the above mentioned Thermal System. (Author) 11 refs.

  6. Metabolic syndrome 2 years after laparoscopic gastric bypass.

    Science.gov (United States)

    Guilbert, Lizbeth; Ortiz, Cristian J; Espinosa, Omar; Sepúlveda, Elisa M; Piña, Tatiana; Joo, Paul; Zerrweck, Carlos

    2018-04-01

    The latest diabetes consensus identified obesity as key component of the metabolic syndrome. The role of bariatric surgery over such syndrome has been less explored with a lack of long term studies, and especially among Mexicans. Retrospective study including patients with metabolic syndrome submitted to laparoscopic gastric bypass at a single institution with complete data after 24 months. The objective was to analyze the improvement of the syndrome and each component. Demographic, anthropometric, biochemical and clinical parameters were analyzed at 12 and 24 months. Secondarily weight loss and other parameters were also analyzed. Finally, an analysis of syndrome improvement related to weight loss was performed. Sixty-three patients were included. The 2 most common components associated with obesity were reduced HDL and raised glucose or Type 2 diabetes. There was a significant improvement of metabolic syndrome and its components, as well as for the rest of the analyzed data, from the first check point and throughout follow-up. Prevalence of such syndrome was 6.3% at 12 and 24 months. Hypertension and raised glucose or Type 2 diabetes were the components with the greatest and fastest improvement; HDL levels and obesity were the least improved. There was a direct relationship between percentage of excess weight loss or percentage of excess BMI loss, and syndrome's improvement. Patients with metabolic syndrome improved after gastric bypass, with results lasting after 2 years; other metabolic parameters important for cardiovascular risk were also positively affected. There was a relationship between the amount of weight loss and improvement of metabolic syndrome. Copyright © 2018 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

  7. Ellis-Van Creveld syndrome

    Directory of Open Access Journals (Sweden)

    Le Merrer Martine

    2007-06-01

    Full Text Available Abstract Ellis-van Creveld syndrome (EVC is a chondral and ectodermal dysplasia characterized by short ribs, polydactyly, growth retardation, and ectodermal and heart defects. It is a rare disease with approximately 150 cases reported worldwide. The exact prevalence is unknown, but the syndrome seems more common among the Amish community. Prenatal abnormalities (that may be detected by ultrasound examination include narrow thorax, shortening of long bones, hexadactyly and cardiac defects. After birth, cardinal features are short stature, short ribs, polydactyly, and dysplastic fingernails and teeth. Heart defects, especially abnormalities of atrial septation, occur in about 60% of cases. Cognitive and motor development is normal. This rare condition is inherited as an autosomal recessive trait with variable expression. Mutations of the EVC1 and EVC2 genes, located in a head to head configuration on chromosome 4p16, have been identified as causative. EVC belongs to the short rib-polydactyly group (SRP and these SRPs, especially type III (Verma-Naumoff syndrome, are discussed in the prenatal differential diagnosis. Postnatally, the essential differential diagnoses include Jeune dystrophy, McKusick-Kaufman syndrome and Weyers syndrome. The management of EVC is multidisciplinary. Management during the neonatal period is mostly symptomatic, involving treatment of the respiratory distress due to narrow chest and heart failure. Orthopedic follow-up is required to manage the bones deformities. Professional dental care should be considered for management of the oral manifestations. Prognosis is linked to the respiratory difficulties in the first months of life due to thoracic narrowness and possible heart defects. Prognosis of the final body height is difficult to predict.

  8. Beals Syndrome

    Science.gov (United States)

    ... the syndrome. How does Beals syndrome compare with Marfan syndrome? People with Beals syndrome have many of the ... bone) and aortic enlargement problems as people with Marfan syndrome, and treatments for these problems are the same. ...

  9. Depression following acute coronary syndrome

    DEFF Research Database (Denmark)

    Joergensen, Terese Sara Hoej; Maartensson, Solvej; Ibfelt, Else Helene

    2016-01-01

    PURPOSE: Depression is common following acute coronary syndrome, and thus, it is important to provide knowledge to improve prevention and detection of depression in this patient group. The objectives of this study were to examine: (1) whether indicators of stressors and coping resources were risk...... factors for developing depression early and later after an acute coronary syndrome and (2) whether prior depression modified these associations. METHODS: The study was a register-based cohort study, which includes 87,118 patients with a first time diagnosis of acute coronary syndrome during the period...... 2001-2009 in Denmark. Cox regression models were used to analyse hazard ratios (HRs) for depression. RESULTS: 1.5 and 9.5 % develop early (≤30 days) and later (31 days-2 years) depression after the acute coronary syndrome. Among all patients with depression, 69.2 % had first onset depression, while 30...

  10. A Case with Cowden Syndrome

    Directory of Open Access Journals (Sweden)

    Nehir Parlak

    2015-06-01

    Full Text Available Cowden syndrome is an autosomal dominant rare inherited disorder characterized by multiple hamartomas in variety of tissues from all three embryonic layers. Mucocutaneous lesions like facial trichilemmomas, acral keratoses, papillomatous papules, also macrocephaly and malignancies including breast, tyhroid and endometrial carcinoma are hallmark of the disease. Here we report a 47-year-old male patient with mucucutaneous lesions, gastrointestinal polyposis and macrocephaly diagnosed as Cowden syndrome.

  11. Case report 509: Proteus syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

    1988-10-01

    Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back.

  12. Case report 509: Proteus syndrome

    International Nuclear Information System (INIS)

    Burnstein, M.I.; Kottamasu, S.R.; Katz, M.E.; Weiss, L.

    1988-01-01

    Radiographic features of Proteus syndrome include asymmetry of limbs, partial gigantism of the hands or feet, and hemihypertrophy. The patient described (a 16-year-old male) manifested features of Proteus syndrome which is another entity in the gamut of conditions associated with localized gigantism. This entity should be suggested particularly when localized gigantism is associated with diffuse intra-abdominal lipomatosis and extensive lipomas involving the chest wall and back. (orig.)

  13. Genetic counseling and cascade genetic testing in Lynch syndrome.

    Science.gov (United States)

    Hampel, Heather

    2016-07-01

    Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine.

  14. Modeling Highly Buoyant Flows in the Castel Giorgio: Torre Alfina Deep Geothermal Reservoir

    Directory of Open Access Journals (Sweden)

    Giorgio Volpi

    2018-01-01

    Full Text Available The Castel Giorgio-Torre Alfina (CG-TA, central Italy is a geothermal reservoir whose fluids are hosted in a carbonate formation at temperatures ranging between 120°C and 210°C. Data from deep wells suggest the existence of convective flow. We present the 3D numerical model of the CG-TA to simulate the undisturbed natural geothermal field and investigate the impacts of the exploitation process. The open source finite-element code OpenGeoSys is applied to solve the coupled systems of partial differential equations. The commercial software FEFLOW® is also used as additional numerical constraint. Calculated pressure and temperature have been calibrated against data from geothermal wells. The flow field displays multicellular convective patterns that cover the entire geothermal reservoir. The resulting thermal plumes protrude vertically over 3 km at Darcy velocity of about 7⁎10-8 m/s. The analysis of the exploitation process demonstrated the sustainability of a geothermal doublet for the development of a 5 MW pilot plant. The buoyant circulation within the geothermal system allows the reservoir to sustain a 50-year production at a flow rate of 1050 t/h. The distance of 2 km, between the production and reinjection wells, is sufficient to prevent any thermal breakthrough within the estimated operational lifetime. OGS and FELFOW results are qualitatively very similar with differences in peak velocities and temperatures. The case study provides valuable guidelines for future exploitation of the CG-TA deep geothermal reservoir.

  15. Efficacy of Manual Therapy Including Neurodynamic Techniques for the Treatment of Carpal Tunnel Syndrome: A Randomized Controlled Trial.

    Science.gov (United States)

    Wolny, Tomasz; Saulicz, Edward; Linek, Paweł; Shacklock, Michael; Myśliwiec, Andrzej

    2017-05-01

    The purpose of this randomized trial was to compare the efficacy of manual therapy, including the use of neurodynamic techniques, with electrophysical modalities on patients with mild and moderate carpal tunnel syndrome (CTS). The study included 140 CTS patients who were randomly assigned to the manual therapy (MT) group, which included the use of neurodynamic techniques, functional massage, and carpal bone mobilizations techniques, or to the electrophysical modalities (EM) group, which included laser and ultrasound therapy. Nerve conduction, pain severity, symptom severity, and functional status measured by the Boston Carpal Tunnel Questionnaire were assessed before and after treatment. Therapy was conducted twice weekly and both groups received 20 therapy sessions. A baseline assessment revealed group differences in sensory conduction of the median nerve (P < .01) but not in motor conduction (P = .82). Four weeks after the last treatment procedure, nerve conduction was examined again. In the MT group, median nerve sensory conduction velocity increased by 34% and motor conduction velocity by 6% (in both cases, P < .01). There was no change in median nerve sensory and motor conduction velocities in the EM. Distal motor latency was decreased (P < .01) in both groups. A baseline assessment revealed no group differences in pain severity, symptom severity, or functional status. Immediately after therapy, analysis of variance revealed group differences in pain severity (P < .01), with a reduction in pain in both groups (MT: 290%, P < .01; EM: 47%, P < .01). There were group differences in symptom severity (P < .01) and function (P < .01) on the Boston Carpal Tunnel Questionnaire. Both groups had an improvement in functional status (MT: 47%, P < .01; EM: 9%, P < .01) and a reduction in subjective CTS symptoms (MT: 67%, P < .01; EM: 15%, P < .01). Both therapies had a positive effect on nerve conduction, pain reduction, functional status, and subjective symptoms in

  16. Drug hypersensitivity syndrome

    Directory of Open Access Journals (Sweden)

    Rashmi Kumari

    2011-01-01

    Full Text Available Drug hypersensitivity syndrome (DHS is an adverse drug reaction commonly associated with the aromatic antiepileptic drugs (AEDs, viz., phenytoin (PHT, carbamazepine (CBZ, phenobarbital (PB, lamotrigine, primidone, etc. It can also be caused by other drugs, such as sulfonamides, dapsone, minocycline, gold derivatives, cyclosporine, captopril, diltiazem, terbinafine, azathioprine and allopurinol. Diagnosis of DHS may be difficult because of the variety of clinical and laboratory abnormalities and manifestations and because the syndrome may mimic infectious, neoplastic or collagen vascular disorders. The risk for developing hypersensitivity within 60 days of the first or second prescription in new users of PHT or CBZ was estimated to be 2.3-4.5 per 10,000 and 1-4.1 per 10,000, respectively. The syndrome is defined by the fever, skin rash, lymphadenopathy and internal organ involvement within the first 2-8 weeks after initiation of therapy. Internal manifestations include, among others, agranulocytosis, hepatitis, nephritis and myositis. Insufficient detoxification may lead to cell death or contribute to the formation of antigen that triggers an immune reaction. Cross-reactivity among PHT, CBZ and PB is as high as 70%-80%. Management mainly includes immediate withdrawal of the culprit drug, symptomatic treatment and systemic steroids or immunoglobulins.

  17. Klippel-Trenaunay-Weber Syndrome:A case report

    Energy Technology Data Exchange (ETDEWEB)

    Ryu, Kyung Nam; Lee, Sun Wha; Yoon, Yup; Lim, Jae Hoon [Kyung Hee University Hopital, Seoul (Korea, Republic of)

    1990-10-15

    The Klippel-Trenauna-Weber Syndrome is characterized by a classical triad that includes unilateral cutaneous capillary hemangiomas, varicose veins, and local gigantism with both soft tissue and osseous overgrowth. Authors have experience on case of Klippel-Trenaunay-Weber Syndrome with hemangiomas of ipsilateral scrotum and foot.

  18. Atopic dermatitis-like pre-Sézary syndrome

    DEFF Research Database (Denmark)

    Sokolowska-Wojdylo, Malgorzata; Baranska-Rybak, Wioletta; Cegielska, Agnieszka

    2011-01-01

    histology without presence of atypical cells). In our patients, overt Sézary syndrome developed after immunosuppressive treatment (including cyclosporine). These cases support the validity of the concept of pre-Sézary syndrome, which is a long-lasting, pre-malignant condition, and which may develop to true...

  19. The metabolic syndrome: prevalence, CHD risk, and treatment.

    Science.gov (United States)

    Sarti, Cinzia; Gallagher, John

    2006-01-01

    An increased risk of coronary heart disease (CHD) morbidity and mortality is associated with the metabolic syndrome, a condition characterized by the concomitant presence of several abnormalities, including abdominal obesity, dyslipidemia, hypertension, insulin resistance (with or without glucose intolerance or diabetes), microalbuminuria, prothrombotic, and proinflammatory states. Estimates of the prevalence of the metabolic syndrome indicate that this condition is now common and likely to increase dramatically over the coming decades, in parallel with greater rates of obesity and Type 2 diabetes. Risk factors for the metabolic syndrome are already present in obese children and adolescents. Thus, identifying and treating all affected individuals promptly and optimally are critical to ensure that this potentially challenging healthcare burden is minimized. Here, we review the prevalence of the metabolic syndrome, dyslipidemias, and CHD risk. Although changes in lifestyle are fundamental to reducing many of the CHD risk factors associated with the metabolic syndrome, pharmacologic interventions also play an important role. Retrospective subanalyses of the effects of statins on coronary event rates and lipid levels in patients with the metabolic syndrome included in clinical trials indicate that these agents are beneficial in correcting the extensive lipid abnormalities that are frequently present in these individuals. However, the optimal management of metabolic syndrome dyslipidemia will depend on the outcomes of future prospective clinical trials. This review examines the underlying causes and prevalence of the metabolic syndrome and its impact on CHD morbidity and mortality and discusses the role of statins in optimizing its management.

  20. Nelson Syndrome: Update on Therapeutic Approaches.

    Science.gov (United States)

    Azad, Tej D; Veeravagu, Anand; Kumar, Sunny; Katznelson, Laurence

    2015-06-01

    To review the pathophysiology and therapeutic modalities availble for Nelson syndrome. We reviewed the current literature including managment for Nelson syndrome. For patients with NS, surgical intervention is often the first-line therapy. With refractory NS or tumors with extrasellar involvement, radiosurgery offers an important alternative or adjuvant option. Pharmacologic interventions have demonstrated limited usefulness, although recent evidence supports the feasibility of a novel somatostatin analog for patients with NS. Modern neuroimaging, improved surgical techniques, and the advent of stereotactic radiotherapy have transformed the management of NS. An up-to-date understanding of the pathophysiology underlying Nelson Syndrome and evidence-based management is imperative. Early detection may allow for more successful therapy in patients with Nelson Syndrome. Improved radiotherapeutic interventions and rapidly evolving pharmacologic therapies offer an opportunity to create targeted, multifocal treatment regiments for patients with Nelson Syndrome. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. The savant syndrome and autistic disorder.

    Science.gov (United States)

    Treffert, D A

    1999-12-01

    Savant syndrome, characterized by remarkable islands of mental ability in otherwise mentally handicapped persons, may occur in autistic as well as nonautistic individuals. Overall, approximately 10% of autistic persons exhibit savant abilities; roughly 50% of those with savant syndrome have autism, and the remaining 50% have other forms of developmental disability. Most commonly, savant syndrome takes the form of extraordinary musical abilities, but may also include calendar-calculation, artistic, mathematical, spatial, mechanical, and memory skills. While savant syndrome was first described more than a century ago, only recently have researchers begun to employ a more uniform nomenclature and more standardized testing in an effort to compare the abilities of savants with those of normal persons. Males show signs of savant syndrome approximately four times more often than females. Along with imaging study findings, this fact suggests the presence of a developmental disorder involving left-brain damage with right-brain compensation.

  2. Spatial clustering of toxic trace elements in adolescents around the Torreón, Mexico lead–zinc smelter

    Science.gov (United States)

    Garcia-Vargas, Gonzalo G.; Rothenberg, Stephen J.; Silbergeld, Ellen K.; Weaver, Virginia; Zamoiski, Rachel; Resnick, Carol; Rubio-Andrade, Marisela; Parsons, Patrick J.; Steuerwald, Amy J.; Navas-Acién, Ana; Guallar, Eliseo

    2016-01-01

    High blood lead (BPb) levels in children and elevated soil and dust arsenic, cadmium, and lead were previously found in Torreón, northern Mexico, host to the world’s fourth largest lead–zinc metal smelter. The objectives of this study were to determine spatial distributions of adolescents with higher BPb and creatinine-corrected urine total arsenic, cadmium, molybdenum, thallium, and uranium around the smelter. Cross-sectional study of 512 male and female subjects 12–15 years of age was conducted. We measured BPb by graphite furnace atomic absorption spectrometry and urine trace elements by inductively coupled plasma-mass spectrometry, with dynamic reaction cell mode for arsenic. We constructed multiple regression models including sociodemographic variables and adjusted for subject residence spatial correlation with spatial lag or error terms. We applied local indicators of spatial association statistics to model residuals to identify hot spots of significant spatial clusters of subjects with higher trace elements. We found spatial clusters of subjects with elevated BPb (range 3.6–14.7 µg/dl) and urine cadmium (0.18–1.14 µg/g creatinine) adjacent to and downwind of the smelter and elevated urine thallium (0.28–0.93 µg/g creatinine) and uranium (0.07–0.13 µg/g creatinine) near ore transport routes, former waste, and industrial discharge sites. The conclusion derived from this study was that spatial clustering of adolescents with high BPb and urine cadmium adjacent to and downwind of the smelter and residual waste pile, areas identified over a decade ago with high lead and cadmium in soil and dust, suggests that past and/or present plant operations continue to present health risks to children in those neighborhoods. PMID:24549228

  3. Rapunzel syndrome: a rare postpartum case.

    Science.gov (United States)

    Tegene, Teshome; Foda, Yahia; Hussain, Omar; Oloniyo, Kolawole; Ha, Ngoc-Tram; Manikonda, Geeta

    2013-01-01

    The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  4. Pigmentary glaucoma accompanied by Usher syndrome.

    Science.gov (United States)

    Koucheki, Behrooz; Jalali, Kamran Hodjat

    2012-08-01

    To report a case of pigmentary glaucoma (PG) accompanied by Usher syndrome. Case report. The results were presented after standard ocular examination, visual field test, anterior segment and fundus photography, electroretinography, and otolaryngology consultation were conducted. Typical retinitis pigmentosa, flat electroretinography, congenital sensorineural hearing loss, high intraocular pressure, Krukenberg spindle, iris concavity, radial iris transillumination defect, severe pigment deposition on the trabecular meshwork, and glaucomatous optic nerve damage were indicative of PG accompanied by Usher syndrome. In some rare cases, PG may coexist with Usher syndrome. Common findings of Usher syndrome, including night blindness, impaired vision, visual field defects, and retinal changes may distract the clinician from considering the diagnosis of glaucoma. Such association should be borne in mind to make a timely diagnosis and treatment possible.

  5. [Obesity and metabolic syndrome in adolescents].

    Science.gov (United States)

    Cárdenas Villarreal, Velia Margarita; Rizo-Baeza, María M; Cortés Castell, Ernesto

    2009-03-01

    In spite of the lack of a uniform definition for metabolic syndrome in pediatry, recent studies have shown that it develops during childhood and is highly prevalent among children and adolescents who suffer from obesity. In light of the current epidemic of obesity in this age category in western countries, and specifically in Mexico, it becomes essential to know the means to prevent, detect and treat this syndrome. Nurses play an important role in promoting childhood health with regards to metabolic syndrome. To put into practice the strategies which resolve underlying problems related with this syndrome is a priority for the well-being of this age group. These strategies should include the application and management of public policies; the collaboration by health services, social services and schools; but, furthermore, the prevention and the management of this syndrome require a family commitment, while the changes in living habits benefit the entire family. This review article proposes to introduce prevention, diagnostic and treatment strategies which nursing personnel can carry out while dealing with metabolic syndrome in adolescents.

  6. Burning mouth syndrome: a discussion of a complex pathology.

    Science.gov (United States)

    Zur, Eyal

    2012-01-01

    Burning mouth syndrome is a complex pathology for which there is very little information about the etiology and pathogenesis. This lack of knowledge leaves patients with suboptimal treatments. This article discusses the existing scientific evidence about this disease. Since topical oral use of clonazepam have been shown to be effective and safe to treat some patients suffering with burning mouth syndrome, formulations including clonazepam are included with this article. Compounding topical preparations of clonazepam offers opportunities for compounding pharmacists to be more involved in improving the quality of life of burning mouth syndrome patients.

  7. A unique rodent model of cardiometabolic risk associated with the metabolic syndrome and polycystic ovary syndrome.

    Science.gov (United States)

    Shi, Danni; Dyck, Michael K; Uwiera, Richard R E; Russell, Jim C; Proctor, Spencer D; Vine, Donna F

    2009-09-01

    Polycystic ovary syndrome (PCOS) is characterized by hyperandrogenism, oligo-/anovulation, and polycystic ovarian morphology and is a complex endocrine disorder that also presents with features of the metabolic syndrome, including obesity, insulin resistance, and dyslipidemia. These latter symptoms form cardiometabolic risk factors predisposing individuals to the development of type 2 diabetes and cardiovascular disease (CVD). To date, animal models to study PCOS in the context of the metabolic syndrome and CVD risk have been lacking. The aim of this study was to investigate the JCR:LA-cp rodent as an animal model of PCOS associated with the metabolic syndrome. Metabolic indices were measured at 6 and 12 wk, and reproductive parameters including ovarian morphology and estrous cyclicity were assessed at 12 wk or adulthood. At 6 wk of age, the cp/cp genotype of the JCR:LA-cp strain developed visceral obesity, insulin resistance, and dyslipidemia (hypertriglyceridemia and hypercholesterolemia) compared with control animals. Serum testosterone concentrations were not significantly different between groups at 6 wk of age. However, at 12 wk, the cp/cp genotype had higher serum testosterone concentrations, compared with control animals, and presented with oligoovulation, a decreased number of corpora lutea, and an increased number of total follicles, in particular atretic and cystic follicles. The cardiometabolic risk factors in the cp/cp animals were exacerbated at 12 wk including obesity, insulin resistance, and dyslipidemia. The results of this study demonstrate that the JCR:LA-cp rodent may be a useful PCOS-like model to study early mechanisms involved in the etiology of cardiometabolic risk factors in the context of both PCOS and the metabolic syndrome.

  8. Relationship between two blood stasis syndromes and inflammatory factors in patients with acute coronary syndrome.

    Science.gov (United States)

    Ma, Cai-Yun; Liu, Jing-Hua; Liu, Jian-Xun; Shi, Da-Zhuo; Xu, Zhen-Ye; Wang, Shao-Ping; Jia, Min; Zhao, Fu-Hai; Jiang, Yue-Rong; Ma, Qin; Peng, Hong-Yu; Lu, Yuan; Zheng, Ze; Ren, Feng-Xue

    2017-11-01

    To investigate the relationship between inflammatory factors and two Chinese medicine (CM) syndrome types of qi stagnation and blood stasis (QSBS) and qi deficiency and blood stasis (QDBS) in patients with acute coronary syndrome (ACS). Sixty subjects with ACS, whose pathogenesis changes belongs to qi disturbance blood stasis syndrome, were divided into 2 groups: 30 in the QSBS group and 30 in the QDBS group. The comparative analysis on them was carried out through comparing general information, coronary angiography and inflammatory factors including intracellular adhesion molecule-1 (ICAM-1), chitinase-3-like protein 1 (YKL-40) and lipoprotein-associated phospholipase A2 (Lp-PLA2). Compared with the QSBS group, Lp-PLA2 and YKL-40 levels in the QDBS group showed no-significant difference (P>0.05); ICAM-1 was significantly higher in the QDBS group than in the QSBS group in the pathological processes of qi disturbance and blood stasis syndrome of ACS (Psyndrome typing of QSBS and QDBS, which provides a research direction for standardization research of CM syndrome types.

  9. Frequency of Metabolic Syndrome and Its Components in Patients with Carpal Tunnel Syndrome

    International Nuclear Information System (INIS)

    Iftikhar, S.; Javed, M. A.; Kasuri, M. N.

    2016-01-01

    Objective: To determine the frequency of metabolic syndrome and its components in patients with carpal tunnel syndrome. Study Design: Case-series. Place and Duration of Study: Department of Neurology, Mayo Hospital, Lahore, from January to June 2012. Methodology: Seventy-five (64 females and 11 males) patients with clinically diagnosed and electrodiagnostically confirmed carpal tunnel syndrome were inducted. Their waist circumference, blood pressure, fasting blood glucose, fasting triglycerides and high density lipoprotein cholesterol levels were recorded. Patients were categorized having metabolic syndrome according to Adult Treatment Panel III criteria, if any 3 were present out of hypertension, elevated fasting triglycerides, reduced high density lipoprotein cholesterol, elevated fasting blood glucose, and elevated waist circumference. Result: Mean age of the patients was 42.04±9.31 years, mean waist circumference was 95.32±9.03 cm, mean systolic blood pressure was 134.13±13.72 mmHg, mean diastolic blood pressure was 89.13±8.83 mmHg, mean fasting blood glucose was 94.35±21.81 mg/dl, mean fasting triglycerides was 177.48±48.69 mg/dl, and mean high density lipoprotein cholesterol was 41.95±11.17 mg/dl. Metabolic syndrome was found in 54 (72 percentage) patients including 9 (16.7 percentage) males and 45 (83.3 percentage) females. Out of 75 patients, 54 (72 percentage) had elevated waist circumference, 52 (69.3 percentage) had elevated blood pressure, 19 (25.3 percentage) had elevated fasting blood glucose, 53 (70.6 percentage) had elevated fasting triglycerides and 54 (72 percentage) had reduced high density lipoprotein cholesterol. Highest frequency of metabolic syndrome was found in age range of 40 - 49 years in both genders. Conclusion: Metabolic syndrome is frequently found in the patients with carpal tunnel syndrome. (author)

  10. Genetics Home Reference: 17q12 deletion syndrome

    Science.gov (United States)

    ... with 17q12 deletion syndrome have delayed development (particularly speech and language delays), intellectual disability, or behavioral or psychiatric disorders. Behavioral and psychiatric conditions that have been reported in people with 17q12 deletion syndrome include autism ...

  11. Torre “Costa Rica” - La Coruña – España

    Directory of Open Access Journals (Sweden)

    Franco Taboada, J. A.

    1977-07-01

    Full Text Available The building —which reaches 106 m in height over Street level— is located on a city lot in the isthmus which geographically defines the city and is made up by two well differentiated bodies: a a 5-storey block of offices and business premises, which covers the lot from dividing wall to dividing wall; b a tower of apartments, with 24 floors and 3 apartments per floor. It also has two basement floors for parking and a ground floor for businesses. It is a singular construction for several reasons, among which emphasis must be given to its original structure a pioneer in Spain, as well as to the arrangement of the apartments —all facing the outside— and the exterior treatment with prefabricated pieces of white concrete.El edificio —que alcanza los 106 m de altura sobre la rasante de la calle— está situado en un solar urbano, en el istmo que define geográficamente la ciudad, y se c o m p o n e de dos cuerpos bien diferenciados: a Bloque de oficinas y locales comerciales, de cinco plantas, que cubre las medianerías del solar. b Torre de viviendas, con 24 alturas y tres viviendas por planta. Dispone además de dos sótanos de garaje y una planta baja destinada a locales. Se trata de una construcción singular, por varias razones, entre las que hay que destacar su estructura original y pionera en España, si bien son dignas de mención, igualmente, la distribución de las viviendas —todas exteriores— y el tratamiento exterior, a base de piezas prefabricadas de hormigón blanco.

  12. Tres Torres y un mar: La última obra de Fernando Cassinello

    Directory of Open Access Journals (Sweden)

    García-Sánchez, J. F.

    2014-12-01

    Full Text Available The work of spanish architect, Fernando Cassinello Pérez has been rarely published, although he built a lot and well. His life is based on three areas: architectural production, academic and research activities. In this research his latest work will be discussed: Three Tower triplets Star-Building (1975 was built on the seafront in Zapillo, Almería; and that is a smart residential work of formal investigation and structural sincerity. Star-Building is an example of how, since the resignation and moderate density, it is possible to construct interesting proposals for housing -oriented towards tourism- on the beachfront. Of course, it deserves to be well known by who nowadays decides to design and build collective architecture. The three project versions will be discussed and described, also explaining how the structure and the traces of the process of building are the genesis and story of this work.La obra del arquitecto almeriense Fernando Cassinello Pérez ha sido escasamente publicada, pero lo cierto es que construyó mucho y bien. Su vida descansa sobre tres pilares: la producción arquitectónica, la actividad académica y la inquietud investigadora. Aquí se expondrá su última obra: las Tres Torres trillizas Star-Building (1975 que construyó frente al Paseo Marítimo de Almería, en el barrio de El Zapillo; y que son un elegante ejercicio residencial de investigación formal y sinceridad estructural. También son un ejemplo de cómo, desde la renuncia y con una densidad moderada, es posible construir interesantes propuestas de viviendas –orientadas al turismo– en la primera línea de playa. Y que, desde luego, merecen ser conocida por quien decida hoy proyectar y construir arquitectura colectiva. Se analizarán y describirán las tres versiones del proyecto; y se explicará cómo la estructura y las huellas del proceso de construcción son la génesis y el argumento de esta obra.

  13. Beneficial Effects of Corn Silk on Metabolic Syndrome.

    Science.gov (United States)

    Wang, Bing; Xiao, Tiegang; Ruan, Jun; Liu, Wensheng

    2017-01-01

    Metabolic syndrome (MS) is a very common medical problem worldwide. It includes obesity, hypertension, hyperglycemia, and abnormal levels of triglycerides and high-density lipoprotein cholesterol. It is closely associated with insulin resistance and may lead to diabetes mellitus, liver diseases, or cardiovascular diseases. Corn silk (CS), a traditional Chinese medicine, has been reported to have multiple beneficial effects, including hypotensive, anti-diabetic, and hypolipidemic properties. This suggests that corn silk could be used to treat or prevent metabolic syndrome. In this review, we will discuss the potential role of corn silk in different components of metabolic syndrome. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  14. Central serous choroidopathy in the Hallermann-Streiff Syndrome.

    Science.gov (United States)

    Blair, N P; Brockhurst, R J; Lee, W

    1981-08-01

    Central serous choroidopathy was observed in a young patient with the Hallermann-Streiff syndrome. Typical features of this syndrome include microphthalmos, proportionate dwarfism, dyscephaly with birdlike facies, dental abnormalities, and hypotrichosis. Exceptional aspects of this case include age of onset (11 years), high hyperopic refractive error (+ 13.00 sphere), and multiple recurrences caused by six separate documented leaks from the choroid. Fundus changes previously reported in the Hallermann-Streiff syndrome, interpreted as chorioretinal pigmentary changes, may have been secondary to previous undiagnosed central serous choroidopathy. Periodic ophthalmoscopy should be performed and may detect unrecognized episodes of central serous choroidopathy for which photocoagulation would be beneficial.

  15. H Syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Dilip Meena

    2018-01-01

    Full Text Available H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity.

  16. H Syndrome: A Case Report and Review of Literature

    Science.gov (United States)

    Meena, Dilip; Chauhan, Payal; Hazarika, Neirita; Kansal, Naveen Kumar

    2018-01-01

    H syndrome is a rare autosomal recessive syndrome characterised by constellation of clinical features and systemic manifestations including cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, hyperglycaemia, low height, and hallux valgus. We report a case of this syndrome with typical clinical findings. We report this case citing the rarity of this uncommon entity. PMID:29527032

  17. Noonan's syndrome with keratoconus and optic disc coloboma.

    Science.gov (United States)

    Ascaso, F J; Del Buey, M A; Huerva, V; Latre, B; Palomar, A

    1993-01-01

    We report the case of a 14-year-old girl with multiple findings characteristic of Noonan's syndrome, including short stature, mild mental retardation, facial, skeletal and renal abnormalities. In addition, ophthalmic examination revealed a keratoconus in the left eye and a right optic disc coloboma. To date, only two cases of Noonan's syndrome with keratoconus have been reported, and this is the second case of this syndrome with optic disc coloboma. To our knowledge, this is the first report of Noonan's syndrome associated with unilateral keratoconus and contralateral optic disc coloboma. In view of the large number of patients with Noonan's syndrome reported to date and the rarity of these ocular abnormalities, it is most likely that this association is fortuitous. Ocular findings reported in patients with Noonan's syndrome are reviewed.

  18. Nance-Horan syndrome: a contiguous gene syndrome involving deletion of the amelogenin gene? A case report and molecular analysis.

    Science.gov (United States)

    Franco, E; Hodgson, S; Lench, N; Roberts, G J

    1995-03-01

    A case of Nance-Horan syndrome in a male is presented, with some features of the condition in his carrier mother and her mother. It is proposed that Nance-Horan syndrome might be a contiguous gene syndrome mapping to chromosome Xp21.2-p22.3. The proband had congenital cataract microphthalmia and dental abnormalities including screwdriver shaped incisors and evidence of enamel pitting hypoplasia. The region Xp21.2-p22.3 also contains the tooth enamel protein gene, amelogenin (AMGX). Using molecular genetic techniques, we have shown that there is no evidence that the AMGX gene is deleted in this case of the Nance-Horan syndrome.

  19. Investigating the ''social brain'' through Williams syndrome

    International Nuclear Information System (INIS)

    Nagamine, Masanori; Mimura, Masaru; Reiss, A.L.; Hoeft, F.

    2010-01-01

    Recent advances in social cognitive neuroscience have led to the concept of the ''social brain''. The social brain includes neural processes specialized for processing social information necessary for the recognition of self and others, and interpersonal relationships. Because of its unique behavioral phenotypic features which includes 'hypersociability', Williams syndrome has gained popularity among social cognitive neuroscientists. Individuals with Williams syndrome share the same genetic risk factor for cognitive-behavioral dysfunction utilizing brain imaging to elucidate endophenotype provides us with an unprecendented opportunity to study gene, brain and behavior relationships especially those related to social cognition. In this review, we provide an overview of neuroimaging studies on social cognition in Williams syndrome and discuss the neural basis of the social brain. (author)

  20. Serotonin syndrome

    Science.gov (United States)

    Hyperserotonemia; Serotonergic syndrome; Serotonin toxicity; SSRI - serotonin syndrome; MAO - serotonin syndrome ... brain area. For example, you can develop this syndrome if you take migraine medicines called triptans together ...

  1. The Tie retraction syndrome.

    Science.gov (United States)

    Geerling, Gerd; Neppert, Birte; Hemmant, Bridget

    2012-12-01

    Tissue retraction is implicated in the pathogenesis of various ophthalmic disorders. Here we describe the clinical characteristics, epidemiology and pathophysiology of a form of retraction syndrome which - to the best of our knowledge - has not been reported in the ophthalmic literature so far. We have termed this condition - consisting of a slowly progressive pseudovertical shortening of tie length due to a horizontal extension of girth length - the "Tie retraction syndrome" (TRS). Other pathognomonic features include an increased tie tip to belt buckle distance and a prolapse of the subumbilical fat pad (SUFP). The syndrome has a clear male to female preponderance and shows an increasing incidence with age and income before tax. Based on a newly proposed grading scheme we discuss and illustrate the diagnosis as well as the medical and surgical management options of this abundant, but often undiagnosed condition. The authors have no explanation for the apparent lack of awareness for this widely preponderant syndrome and its severe cosmetically disfiguring potential. We thus would like to invite all fellow colleagues with expertise in the field to comment or present their views.

  2. Intellectual development in Noonan syndrome: A longitudinal study

    NARCIS (Netherlands)

    Roelofs, R.L.; Janssen, N.; Wingbermühle, P.A.M.; Kessels, R.P.C.; Egger, J.I.M.

    2016-01-01

    INTRODUCTION: Although cognitive impairments in adults with Noonan syndrome seem to be limited to a low-average intelligence and slower processing speed, studies in children with Noonan syndrome have demonstrated more extensive cognitive problems. These include deficits in language skills, memory,

  3. [Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

    Science.gov (United States)

    Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

    2009-02-01

    Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

  4. Duane Syndrome

    Science.gov (United States)

    ... Frequently Asked Questions Español Condiciones Chinese Conditions Duane Syndrome En Español Read in Chinese What is Duane Syndrome? Duane syndrome, also called Duane retraction syndrome (DRS), ...

  5. Language and Communicative Development in Williams Syndrome

    Science.gov (United States)

    Mervis, Carolyn B.; Becerra, Angela M.

    2007-01-01

    Williams syndrome, a genetic disorder caused by a microdeletion of approximately 25 genes on chromosome 7q11.23, is associated with mild to moderate intellectual disability or learning difficulties. Most individuals with Williams syndrome evidence a cognitive profile including relative strengths in verbal short-term memory and language, and…

  6. Variant of Coffin-Siris syndrome or previously undescribed syndrome?

    Science.gov (United States)

    Braun-Quentin, C; Kapferer, L; Kotzot, D

    1996-09-06

    We describe a 23-year-old woman with growth and mental retardation, hypoplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a "coarse" face with large mouth and large tongue, and bushy eyebrows. Follow-up from birth to adulthood showed that developmental delay and hypoplasia of nails and distal phalanges are permanent signs. Sparse scalp hair, hypotonia, and feeding difficulties were present in early infancy. Later, growth retardation, hirsutism, and a "coarse" face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis includes a number of conditions, particularly Coffin-Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, this woman might represent a variant of Coffin-Siris syndrome or a new entity.

  7. Nance-Horan Syndrome: A Rare Case Report.

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  8. Nance–Horan syndrome: A rare case report

    Directory of Open Access Journals (Sweden)

    Shambhu Sharma

    2017-01-01

    Full Text Available Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.

  9. Nance–Horan Syndrome: A Rare Case Report

    Science.gov (United States)

    Sharma, Shambhu; Datta, Pankaj; Sabharwal, Janak Raj; Datta, Sonia

    2017-01-01

    Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance–Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome. PMID:29042737

  10. Dry eye syndrome

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000426.htm Dry eye syndrome To use the sharing features on this page, ... second-hand smoke exposure Cold or allergy medicines Dry eye can also be caused by: Heat or ... Symptoms may include: Blurred vision Burning, itching, ...

  11. Acute myeloblastic leukemia-associated Marfan syndrome and Davidoff-Dyke-Masson syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Ahmet Faik Öner

    2008-12-01

    Full Text Available We present herein a 23-year-old man with acute myeloblastic leukemia (AML associated with Davidoff-Dyke-Masson syndrome (DDMS and Marfan syndrome (MS. The diagnosis of DDMS was based on findings including left facial asymmetry, left hemiparesis, mental retardation, right cerebral hemiatrophy, dilatation of the ipsilateral lateral ventricle and calvarial thickening. The diagnosis of MS was based on clinical findings including tall stature, myopia, retinitis pigmentosa, blue scleras, scoliosis, pectus excavatum, arachnodactyly and low ratio of upper/lower body segment. The patient developed hepatosplenomegaly, gingival hypertrophy and pancytopenia. Peripheral blood film and bone marrow examination showed that most of nucleated cells were blasts; immunophenotype of those cells showed CD11+, CD13+, CD14+, CD33+ and HLA-DR+. These findings confirmed the diagnosis of AML (FAB-M5. After induction chemotherapy, remission was obtained. To the best of our knowledge, our case is the third report of AML in MS syndrome, while AML associated with DDMS and MS has not been previously reported in the literature.

  12. Dhat syndrome: a systematic review.

    Science.gov (United States)

    Udina, Marc; Foulon, Hubert; Valdés, Manuel; Bhattacharyya, Sagnik; Martín-Santos, Rocío

    2013-01-01

    Dhat syndrome is a widely recognized clinical condition often seen on the Indian subcontinent that is characterized by a preoccupation with semen loss in urine and other symptoms such as fatigue or depressed mood. Although it has been considered to be a culture-bound syndrome, it may also be regarded as a distinct manifestation of depression or another medical illness. The purpose of this paper was to carry out a systematic review on Dhat syndrome. A review of the literature published up until February 2012 was conducted using the key words [Dhat syndrome] or [semen-loss anxiety] or [semen-loss syndrome]. We included only original studies. The majority of studies reported patients from the Indian subcontinent. There was a high degree of heterogeneity among the studies. Dhat was a common condition in young people from certain cultures and origins. Depressive and anxiety symptoms were common, including fatigue, sleepiness, and sexual dysfunction. Good clinical engagement, social support, and sexual education were useful in some cases. Given the high rate of comorbid depressive symptoms, antidepressant has been used. In an increasingly globalized world, clinicians must be able to properly diagnose and treat patients from other cultures, who may report symptoms that are influenced by their beliefs, culture, or place of origin. Dhat may be a common manifestation of a depressive or anxiety disorder in certain cultures. Further research is needed to improve our understanding of this condition, to clarify its nosologic status, and to offer appropriate treatment to affected individuals. Copyright © 2013 The Academy of Psychosomatic Medicine. Published by Elsevier Inc. All rights reserved.

  13. Wells syndrome and its relationship to Churg-Strauss syndrome.

    Science.gov (United States)

    Ratzinger, Gudrun; Zankl, Julia; Zelger, Bernhard

    2013-08-01

      Wells syndrome has been described as an inflammatory disorder based on typical clinical appearance combined with the histopathological presence of eosinophilic infiltrates and flame figures in the absence of vasculitis. Churg-Strauss syndrome, on the other hand, is primarily a diffuse, necrotizing vasculitis but is also typically displaying eosinophils and flame figures. Despite several parallels, the present understanding of these two diseases excludes any pathogenetic relationship.   We describe the clinical course and histopathological appearance of three patients who had initially been diagnosed with Wells syndrome that developed into Churg-Strauss syndrome during the course of their disease.   The clinical presentation of all three patients led to the diagnosis of Wells syndrome by independent specialists. Histopathology showed an eosinophilic infiltrate and flame figures next to features of leukocytoclastic vasculitis. Detailed examination revealed asthma bronchiale and additional symptoms indicating Churg-Strauss syndrome. The initial diagnosis of Wells syndrome had to be revised to Churg-Strauss syndrome.   We conclude that Wells syndrome could be the starting point of a pathogenetic process that might reach its maximum in Churg-Strauss syndrome. As a clinical consequence, patients with Wells syndrome should be evaluated and followed for Churg-Strauss syndrome. © 2013 The International Society of Dermatology.

  14. Goldenhar Syndrome in Association with Duane Syndrome

    Directory of Open Access Journals (Sweden)

    U D Shrestha

    2012-03-01

    Full Text Available Goldenhar syndrome (GHS is also known as Oculo-Auriculo-Vertebral (OAV syndrome or Branchial arch syndrome. Duane retraction syndrome (DRS is a congenital disorder of ocular motility characterized by limited abduction, adduction or both. It is unilateral in 80% of cases. The important and interesting part of this eight months old child is presence of GHS with DRS. She has bilateral invol-vement, which is seen in only 5-8% of GHS, as compared to high incidence of unilateral involve-ment. This child also had refractive error of + 6.00/ - 1.5 * 180. At four year of age her vision with glass was 6/9. Children with GHS and DRS should have early eye examination done to treat the problem of refractive error. Keywords: Duane retraction syndrome; goldenhar syndrome, refractive error.

  15. Cardiovascular surgery in children with Marfan syndrome or Loeys-Dietz syndrome.

    Science.gov (United States)

    Everitt, Melanie D; Pinto, Nelangi; Hawkins, John A; Mitchell, Max B; Kouretas, Peter C; Yetman, Anji T

    2009-06-01

    This study was undertaken to assess the frequency and outcome of cardiovascular surgery in children with Marfan or Loeys-Dietz syndrome. A retrospective review from 2 regional Marfan subspecialty clinics was performed. Between 1997 and 2007, 204 children with Marfan syndrome and 17 children with Loeys-Dietz syndrome were followed serially. Of these patients, 35 were identified who had undergone cardiovascular surgery at 18 years of age or less. Demographic, echocardiographic, and surgical data were collected. Surgery was performed at a median of 3 years (0-15 years) after diagnosis and a mean age of 11.5 +/- 6.2 years. Aortic root replacement was the initial surgery in 30 patients, and mitral valve surgery was the initial surgery in 8 patients, with 3 patients undergoing both. Aortic root replacement was performed using a composite root replacement in 9 patients and valve-sparing techniques in 21 patients (remodeling in 8 patients and reimplantation in 13 patients). Eight patients underwent reoperation at a mean of 4.7 +/- 3.0 years after aortic surgery: 3 for aortic insufficiency, 2 for dissection, 2 for valve thrombosis, and 1 for a distal aneurysm. Adverse outcomes included reoperation in 8 patients, aneurysm in 1 patient, and death due to dissection or stroke in 3 patients. Variables associated with an adverse outcome included preoperative aortic insufficiency, valve replacement, and absence of angiotensin-converting enzyme inhibitor therapy. Patients with Marfan or Loeys-Dietz syndrome requiring surgery during childhood have a favorable long-term outcome. Those undergoing valve-sparing root replacement or mitral valve repair have a low risk for reoperation. Postoperative angiotensin-converting enzyme inhibitor therapy confers clinical benefit.

  16. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    Science.gov (United States)

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Rapunzel Syndrome: A Rare Postpartum Case

    Directory of Open Access Journals (Sweden)

    Teshome Tegene

    2013-01-01

    Full Text Available The Rapunzel syndrome describes a disorder in which a significant amount of hair is swallowed, forming a trichobezoar that extends past the stomach into the small intestines. Given the indigestible nature of hair, it subsequently leads to obstruction within the gastrointestinal system. Clinically, patients may present with symptoms of gastrointestinal obstruction, including abdominal complaints such as pain, nausea, vomiting, and diarrhea. However, due to its broad and nonspecific presenting symptoms, the diagnosis of Rapunzel syndrome warrants consideration once other common etiologies have been excluded. Surgical intervention is often required to remove the abdominal mass. This unusual syndrome is often associated with psychiatric disorders, affecting young women most commonly. In this report, we will discuss a unique case of Rapunzel syndrome in a one-month postpartum woman.

  18. Prevention of infectious diseases in patients with Good syndrome.

    Science.gov (United States)

    Multani, Ashrit; Gomez, Carlos A; Montoya, José G

    2018-08-01

    Good syndrome is a profoundly immunocompromising condition with heterogeneous immune deficits characterized by the presence of thymoma, low-to-absent B-lymphocyte counts, hypogammaglobulinemia, and impaired cell-mediated immunity. Opportunistic infectious diseases associated with Good syndrome represent a diagnostic and therapeutic challenge, given their protean clinical manifestations. Although these infectious complications have been reviewed in prior publications, recommendations regarding their prevention have been lacking. Good syndrome usually occurs in adult patients between the ages of 40 and 70 years. Immunologically, it is characterized by low or absent peripheral blood B lymphocytes, hypogammaglobulinemia, and variable defects in cell-mediated immunity including low CD4 T counts, inverted CD4:CD8 T-lymphocyte ratio, and reduced T-lymphocyte mitogen proliferative responses. Patients with Good syndrome are susceptible to a variety of infectious diseases, of which the most common are recurrent bacterial sinopulmonary infections, mucocutaneous candidiasis, and CMV tissue-invasive disease. Preventive guidelines including targeted antimicrobial prophylaxis and vaccination strategies can mitigate infectious complications in patients with Good syndrome. Immunological deficits and infectious complications in Good syndrome have been described for over 60 years. Further research is needed to elucidate its exact pathogenesis and define the mechanistic relationship between thymoma and hypogammaglobulinemia. However, tailored prophylactic strategies can be recommended for patients with Good syndrome.

  19. A multi-centre open-label randomised non-inferiority trial comparing watchful waiting to antibiotic treatment for acute otitis media without perforation in low-risk urban Aboriginal and Torres Strait Islander children (the WATCH trial): study protocol for a randomised controlled trial.

    Science.gov (United States)

    Abbott, Penelope; Gunasekera, Hasantha; Leach, Amanda Jane; Askew, Deborah; Walsh, Robyn; Kong, Kelvin; Girosi, Federico; Bond, Chelsea; Morris, Peter; Lujic, Sanja; Hu, Wendy; Usherwood, Tim; Tyson, Sissy; Spurling, Geoffrey; Douglas, Markeeta; Schubert, Kira; Chapman, Shavaun; Siddiqui, Nadeem; Murray, Reeion; Rabbitt, Keitha; Porykali, Bobby; Woodall, Cheryl; Newman, Tina; Reath, Jennifer

    2016-03-03

    Treatment guidelines recommend watchful waiting for children older than 2 years with acute otitis media (AOM) without perforation, unless they are at high risk of complications. The high prevalence of chronic suppurative otitis media (CSOM) in remote Aboriginal and Torres Strait Islander communities leads these children to be classified as high risk. Urban Aboriginal and Torres Strait Islander children are at lower risk of complications, but evidence to support the subsequent recommendation for watchful waiting in this population is lacking. This non-inferiority multi-centre randomised controlled trial will determine whether watchful waiting is non-inferior to immediate antibiotics for urban Aboriginal and Torres Strait Islander children with AOM without perforation. Children aged 2 - 16 years with AOM who are considered at low risk for complications will be recruited from six participating urban primary health care services across Australia. We will obtain informed consent from each participant or their guardian. The primary outcome is clinical resolution on day 7 (no pain, no fever of at least 38 °C, no bulging eardrum and no complications of AOM such as perforation or mastoiditis) as assessed by general practitioners or nurse practitioners. Participants and outcome assessors will not be blinded to treatment. With a sample size of 198 children in each arm, we have 80 % power to detect a non-inferiority margin of up to 10 % at a significance level of 5 %, assuming clinical improvement of at least 80 % in both groups. Allowing for a 20 % dropout rate, we aim to recruit 495 children. We will analyse both by intention-to-treat and per protocol. We will assess the cost- effectiveness of watchful waiting compared to immediate antibiotic prescription. We will also report on the implementation of the trial from the perspectives of parents/carers, health professionals and researchers. The trial will provide evidence for the safety and effectiveness of watchful waiting

  20. Paraneoplastic Sjogren’s syndrome in gastric cancer

    Directory of Open Access Journals (Sweden)

    R F Khamitov

    2018-04-01

    Full Text Available In clinical practice, various masks of oncological diseases are often found. Some of them can manifest as a variety of syndromes or symptom complexes that resemble many non-oncologic diseases, including diffuse connective tissue diseases. In some cases, paraneoplastic syndrome facilitates diagnosing a malignant neoplasm in the early stages, but, unfortunately, can also mimic the tumor process by its more prominent manifestations, which lead to late establishment of the true cause of the disease, and therefore postpone specific treatment, creating significant clinical problems. Aim of the study was to reveal pathogenetic relationship between cancer and paraneoplastic syndrome on the example of our clinical observation. A clinical case of diagnosed paraneoplastic syndrome in the form of secondary Sjogren's syndrome, which developed long before the diagnosis of stomach cancer was made, as well as the results of clinical, instrumental, and laboratory examination of the patient, are presented. Questions of epidemiology, etiopathogenesis, and clinical picture of paraneoplastic syndrome are covered. The presented clinical case made it possible to outline the features of the course of paraneoplastic Sjogren's syndrome in gastric cancer and to identify a number of criteria for the diagnostic algorithm of this nosology. In particular, such criteria include general pathogenetic mechanisms, development only in malignant tumors, nonspecific clinical and laboratory manifestations, lack of parallelism with local symptoms of the tumor, the possibility of occurrence of paraneoplastic Sjogren's syndrome before development of local tumor symptoms and reappearance after its relapse. Oncologic diseases are characterized not only by specific symptoms characteristic for a certain organ damage (pain, bleeding, dysfunction, etc., but also by a variety of nonspecific manifestations (fatigue, subfebrile temperature, weight loss, etc. regardless of the nature, location and