1,520 research outputs found

    Feohifomicosis Producida por Alternaria Infectoria con Presentación Clínica de Múltiples Lesiones Vegetantes en un Paciente Sometido a un Trasplante Renal

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    The genus Alternaria is one of the most common black moulds and appears to be increasing as a causative agent of subcutaneous phaeohyphomycosis, particularly among immunosuppressed patients. A 53-year-old patient who had received a kidney transplant presented with multiple verrucous lesions on the distal extremities. Positive histopathology and cultures, in addition to rDNA ITS region sequencing, identified the fungal isolate as Alternaria infectoria. Oral itraconazole was administered for 10 months. A follow-up at 15 months demonstrated no signs of infection. Clinical manifestations of cutaneous alternariosis vary significantly and only a few cases have been described in the literature. Although optimal treatment options remain controversial, this case of phaeohyphomycosis was successfully treated with itraconazole monotherapy

    DWSB in heterotic flux compactifications

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    We address the construction of non-supersymmetric vacua in heterotic compactifications with intrinsic torsion and background fluxes. In particular, we implement the approach of domain-wall supersymmetry breaking (DWSB) previously developed in the context of type II flux compactifications. This approach is based on considering backgrounds where probe NS5-branes wrapping internal three-cycles and showing up as four-dimensional domain-walls do not develop a BPS bound, while all the other BPS bounds characterizing the N=1 supersymmetric compactifications are preserved at tree-level. Via a scalar potential analysis we provide the conditions for these backgrounds to solve the ten-dimensional equations of motion including order \alpha' corrections. We also consider backgrounds where some of the NS5-domain-walls develop a BPS bound, show their relation to no-scale SUSY-breaking vacua and construct explicit examples via elliptic fibrations. Finally, we consider backgrounds with a non-trivial gaugino condensate and discuss their relation to supersymmetric and non-supersymmetric vacua in the present context.Comment: 56 pages, 1 figur

    Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia

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    Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this reason, and because usually there is a major neurological disease at diagnosis, patients with argininemia are rarely considered as candidates for OLT despite its capacity to replace the deficient enzyme by an active one. We report on long-term follow-up of two patients with argininemia. Patient 1 was diagnosed by the age of 20 months and despite appropriate conventional treatment progressed to spastic paraparesis with marked limp. OLT was performed at 10 years of age with normalization of plasmatic arginine levels and guanidino compounds. Ten years post-OLT, under free diet, there is no progression of neurological lesions. The second patient (previously reported by our group) was diagnosed at 2 months of age, during a neonatal cholestasis workup study. OLT was performed at the age of 7 years, due to liver cirrhosis with portal hypertension, in the absence of neurological lesions and an almost-normal brain MRI. After OLT, under free diet, there was normalization of plasmatic arginine levels and guanidino compounds. Twelve years post-OLT, she presents a normal neurological examination. We conclude that OLT prevents progressive neurological impairment in argininemia and should be considered when appropriate conventional treatment fails

    The Eyes Have It: Sex and Sexual Orientation Differences in Pupil Dilation Patterns

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    Recent research suggests profound sex and sexual orientation differences in sexual response. These results, however, are based on measures of genital arousal, which have potential limitations such as volunteer bias and differential measures for the sexes. The present study introduces a measure less affected by these limitations. We assessed the pupil dilation of 325 men and women of various sexual orientations to male and female erotic stimuli. Results supported hypotheses. In general, self-reported sexual orientation corresponded with pupil dilation to men and women. Among men, substantial dilation to both sexes was most common in bisexual-identified men. In contrast, among women, substantial dilation to both sexes was most common in heterosexual-identified women. Possible reasons for these differences are discussed. Because the measure of pupil dilation is less invasive than previous measures of sexual response, it allows for studying diverse age and cultural populations, usually not included in sexuality research

    Phenotype and Genotype of Portuguese Patients with Smith-Lemli-Opitz Syndrome

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    A síndrome de Smith-Lemli-Opitz (SLOS) é uma síndrome polimalformativa de transmissão autossómica recessiva causada por um défice metabólico da biossíntese do colesterol, que se caracteriza por dismorfias craniofaciais, anomalias congénitas de vários órgãos (salientando-se as do esqueleto e do aparelho urogenital), restrição de crescimento intra-uterino (RCIU), alterações comportamentais e atraso mental. É causada por mutações no gene DHCR7, que codifica para a enzima 7-dehidrocolesterol reductase, responsável pelo último passo da via metabólica da síntese do colesterol. A SLOS caracteriza-se por níveis diminuídos de colesterol e concentrações altas do seu precursor, 7-dehidrocolesterol, no sangue e tecidos. Procedeu-se a uma análise comparativa dos fenótipo e genótipo de quinze casos de SLOS de origem portuguesa, e são tecidas considerações quanto às dificuldades e limitações inerentes ao diagnóstico, e ao facto de esta doença hereditária do metabolismo dever ser considerada no diagnóstico diferencial das situações de (i) hipocolesterolémia, (ii) RCIU e (iii) síndromes polimalformativas,(especialmente quando crianças com atraso de crescimento apresentam simultaneamente sindactilia do segundo e terceiro dedos do pé e microcefalia e/ou narinas antevertidas entre outras anomalias)

    'Being there' for women with metastatic breast cancer: a pan-European patient survey

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    BACKGROUND: Understanding their experiences of diagnosis is integral to improving the quality of care for women living with advanced/metastatic breast cancer. METHODS: A survey, initiated in March 2011, was conducted in two stages. First, the views of 47 breast cancer-related patient groups in eight European countries were sought on standards of breast cancer care and unmet needs of patients. Findings were used to develop a patient-centric survey to capture personal experiences of advanced breast cancer to determine insights into the ‘trade-off' between extending overall survival and side effects associated with its treatment. The second online survey was open to women with locally advanced or metastatic breast cancer, or their carers, and responders were recruited through local patient groups. Data were collected via anonymous local language questionnaires. RESULTS: The online stage II survey received a total of 230 responses from 17 European countries: 94% of respondents had locally advanced or metastatic breast cancer and 6% were adult carers. Although the overall experience of care was generally good/excellent (77%), gaps were still perceived in terms of treatment choice and information provision. Treatment choice for patients was felt to be lacking by 32% of responders. In addition, 68% of those who responded would have liked more information about future medical treatments and research, with 57% wishing to receive this information from their oncologist. Two-thirds (66%) of women with advanced breast cancer, or their carers, believed life-extending treatment to be important so that they can spend more time with family and friends, and 67% said that the treatment was worthwhile, despite potential associated side effects. CONCLUSION: These findings show a continuing need to provide women with advanced breast cancer with better information and emphasise the importance that these patients often place on prolonging survival

    Psychologists’ dilemmas in career counselling practice

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    In this study, we explored main dilemmas psychologists face in career counselling in two main professional settings: employment and education. Participants included 24 experienced Portuguese psychologists, working in employment (n = 14) and educational (n = 10) settings. We used consensual qualitative research to conduct and analyse semi-structured interviews. Results revealed dilemmas’ in five domains: neutrality, assessment, dual loyalty, role boundaries, and confidentiality, with the typical dilemma in the domain of neutrality. Differences between groups were found in the domains of dual loyalty and role boundaries.Dans cette étude, nous avons exploré les principaux dilemmes rencontrés par les psychologues dans le conseil en orientation dans deux milieux professionnels centraux: le placement et l’éducation. Parmi les participants figuraient 24 psychologues portugais expérimentés travaillant dans des contextes de placement (n = 14) et d’éducation (n = 10). Nous avons utilisé la recherche qualitative consensuelle pour mener et analyser les entretiens semi-structurés. Les re´sultats ont révé lé des dilemmes dans cinq domaines: la neutralité, l’évaluation, la double loyauté, les limites du rôle, et la confidentialité, avec le dilemme typique dans le domaine de la neutralité. Les différences entre les groupes ont été identifiees dans les domaines de la double loyauté et les limites du rôle.In dieser Studie untersuchten wir die hauptsä chlichen Dilemmata, mit denen Psychologen in der Berufsberatung in zwei wesentlichen professionellen Einrichtungen konfrontiert sind: Beruf und Bildung. Zu den Teilnehmern geho ¨rten 24 erfahrene portugiesische Psychologen, die in Einrichtungen von Beruf (n = 14) und Bildung (n = 10) arbeiteten. Wir verwendeten einvernehmliche qualitative Forschung um semi-strukturierte Interviews durchzufu¨hren und zu analysieren. Die Ergebnisse zeigten Dilemmata in fünf Bereichen: Neutralität, Beurteilung, doppelte Loyalität, Rollengrenzen und Vertraulichkeit, mit dem typischen Dilemma in der Domäne der Neutralität. Unterschiede zwischen den Gruppen wurden in den Bereichen der doppelten Loyalität und Rollengrenzen gefunden

    Intergenerational mobility of housework time in the United Kingdom

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    This paper analyzes the relationship between parents’ time devoted to housework and the time devoted to housework by their children. Using data from the Multinational Time Use Study for the UK, we find positive intergenerational correlations in housework for both parents, indicating that the more time parents devote to housework, the more time their children will devote to housework. Using data from the British Household Panel Survey, we find that a higher father–mother housework ratio is positively related to a higher child–mother housework ratio, even after allowing for individual fixed-effects. In order to address the potential exacerbation of errors-in-variables arising from the fixed-effects specification, we instrument the father–mother ratio of housework using father’s and mother’s lagged weekly working hours. The Instrumental-Variable estimates fully support the fixed-effects estimates, and suggest that the latter should be regarded as a lower bound. We also present evidence of the link between housework during adolescence and duringadulthood, which may indicate that housework time during adulthood depends on the housework time during childhood, which may also be affected by parents’ housework time. Our results contribute to the field of the intergenerational mobility of behaviors

    Carcass persistence and detectability : reducing the uncertainty surrounding wildlife-vehicle collision surveys

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    Carcass persistence time and detectability are two main sources of uncertainty on roadkill surveys. In this study, we evaluate the influence of these uncertainties on roadkill surveys and estimates. To estimate carcass persistence time, three observers (including the driver) surveyed 114km by car on a monthly basis for two years, searching for wildlife-vehicle collisions (WVC). Each survey consisted of five consecutive days. To estimate carcass detectability, we randomly selected stretches of 500m to be also surveyed on foot by two other observers (total 292 walked stretches, 146 km walked). We expected that body size of the carcass, road type, presence of scavengers and weather conditions to be the main drivers influencing the carcass persistence times, but their relative importance was unknown. We also expected detectability to be highly dependent on body size. Overall, we recorded low median persistence times (one day) and low detectability (<10%) for all vertebrates. The results indicate that body size and landscape cover (as a surrogate of scavengers' presence) are the major drivers of carcass persistence. Detectability was lower for animals with body mass less than 100g when compared to carcass with higher body mass. We estimated that our recorded mortality rates underestimated actual values of mortality by 2±10 fold. Although persistence times were similar to previous studies, the detectability rates here described are very different from previous studies. The results suggest that detectability is the main source of bias across WVC studies. Therefore, more than persistence times, studies should carefully account for differing detectability when comparing WVC studies
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