The fungal cell death regulator czt-1 is allelic to acr-3

Fungal infections have far-reaching implications that range from severe human disease to a panoply of disruptive agricultural and ecological effects, making it imperative to identify and understand the molecular pathways governing the response to antifungal compounds. In this context, CZT-1 (cell death-activated zinc cluster transcription factor) functions as a master regulator of cell death and drug susceptibility in Neurospora crassa. Here we provide evidence indicating that czt-1 is allelic to acr-3, a previously described locus that we now found to harbor a point mutation in its coding sequence. This nonsynonymous amino acid substitution in a low complexity region of CZT-1/ACR-3 caused a robust gain-of-function that led to reduced sensitivity to acriflavine and staurosporine, and increased expression of the drug efflux pump abc-3. Thus, accumulating evidence shows that CZT-1 is an important broad regulator of the cellular response to various antifungal compounds that appear to share common molecular targets.A.P.G. was recipient of a fellowship from Fundação Calouste Gulbenkian (104210) and a short-term fellowship from EMBO (329-2012). This work was supported by FCT Portugal (PEst-C/SAU/LA0002/2013 and FCOMP-01-0124-FEDER-037277 to A.V.), the European POCI program of QCAIII co-participated by FEDER (NORTE-07-0124-FEDER-000003) and the National Science Foundation (DBI 0742713 to the Fungal Genetics Stock Center – K.M.)

Estudio bibliométrico sobre disertaciones y tesis en enfermería con aproximación fenomenológica: tendencia y perspectivas

This study aimed to analyze the scientific production of nursing dissertations and theses with a phenomenological approach published from 1981 to 2002. A descriptive, retrospective and bibliometric research was carried out. The material analysis, which is part of the database of the catalogue Information on Nursing Research and Researchers, resulted in 217 studies, 71,9% from the master's course and 28,1% from the doctoral course. Among the obtained results, it stands out that the theoretical-philosophical reference chosen to support the data discussion found in investigations has not been used emphatically. There is a need to discuss the unveiled data, through the subjects' discourse, in the light of the philosophical reference framework mentioned in the research trajectory.Este trabajo tuvo como objetivo analizar la producción científica sobre disertaciones y tesis de enfermería con aproximación fenomenológica publicadas de 1981 a 2002. Fue una investigación del tipo descriptivo, retrospectivo y bibliométrico. El análisis del material perteneciente a la base de datos del catálogo Informaciones sobre Investigaciones y Investigadores en Enfermería resultó en 217 estudios: el 71,9% de maestría y el 28,1% del doctorado. Entre los resultados alcanzados, se destaca que el referencial teórico-filosófico elegido para soportar el análisis de datos encontrados en las investigaciones no ha sido utilizados con énfasis. Se destaca la necesidad de discutir los datos encontrados a través del discurso de los sujetos, a la luz del referencial teórico-filosófico mencionado en la trayectoria de investigación.Este estudo teve por objetivo analisar a produção científica sobre dissertações e teses de enfermagem com abordagem fenomenológica, publicadas de 1981 a 2002. Trata-se de pesquisa do tipo descritiva, retrospectiva e bibliométrica. A análise do material, que consta na base de dados do catálogo Informações sobre Pesquisas e Pesquisadores em Enfermagem, resultou em 217 estudos: 71,9% do curso de mestrado e 28,1% do curso de doutorado. Dentre os resultados obtidos destaca-se que o referencial teórico-filosófico escolhido para subsidiar a discussão dos dados encontrados nas investigações não tem sido utilizado com ênfase. Aponta-se a necessidade de discutir os dados desvelados, por meio dos discursos dos sujeitos, à luz do referencial teórico-filosófico, mencionado na trajetória da pesquisa

Long‐Term Survival After Choriocarcinoma Transmitted by Liver Graft: A Successful Report in Pediatric Transplantation

Background: LT is the standard of care for many pediatric liver disorders. Although long-term outcomes have improved, some rare complications such as transmission of occult donor tumors have been reported. Case report: An adolescent diagnosed with tyrosinemia was submitted to LT from a previous healthy donor due to HCC. Almost 8 months after LT, the patient presented a nodular hepatic lesion. Clinically, he had mild weight loss, lower limb edema, and gynecomastia. Thorax CT found lesions in the left lung parenchyma, which showed no increased uptake in PET SCAN. Liver biopsy revealed a carcinoma with desmoplastic stroma. ISS was withdrawn, and palliative chemotherapy was started for presumptive HCC relapse. AFP remained normal, but HCG had reached unexpected values of 1984 IU/L. As we requested detailed information about the other organ recipients from the same donor, we found that one of them passed away due to disseminated tumor. Five months after the beginning of chemotherapy, the patient underwent resection of liver segments V and VI. Histological examination confirmed liver metastatic choriocarcinoma. At the time of writing, with 11 years of follow-up, the patient had sustained remission with no signs of relapse. Discussion: This case reports a diagnostic challenge in an adolescent with a particular unique background and a very rare pattern of tumor transmission. The authors aim to highlight the risk of cancer-bearing organs reveled post-LT and to testimony the experience of the successful outcome after a choriocarcinoma transmitted by liver graft.info:eu-repo/semantics/publishedVersio

Genética da conservação aplicada ao tráfico ilegal de aves

Birds represent the greater part of the animals associated to illegal trade/commerce in Brazil, specially due to some characteristics as song and feathers colors. Nowadays, genetic analyses comprehend one of the most effi cient approaches to generate data in order to solve and minimize the results of environmental crimes and illegal trade of wild animals. In birds, one of the genetic survey that can be used to subside conservation plans associated to illegal trade refers to molecular sexing, since it is not possible to identify the gender in some avian species based on morphological characters. The molecular sexing can be performed using DNA from different samples, as feathers and blood, and further amplifi cation of the CHD-Z e CHD-W (chromo helicaseDNA binding) gene regions. The sex-specifi c genetic profi les can support conservation programs of captive maintenance and/or reproduction and subsequent release or reintroduction of the animals on wild environment.Entre os animais silvestres envolvidos em tráfico/comércio ilegal no Brasil, as aves compreendem um dos grupos mais atingidos, especialmente devido a características como canto e colorido das penas. Atualmente, análises genéticas compreendem uma das formas mais eficazes de gerar dados para solucionar e minimizar os resultados de crimes ambientais e comércio ilegal de animais silvestres. Uma das análises genéticas que podem ser utilizadas com o intuito de subsidiar programas conservacionistas associados ao tráfico ilegal de aves refere-se à sexagem molecular, dado que neste grupo de vertebrados nem sempre é possível identificar o gênero por meio de caracteres morfológicos. A sexagem molecular pode ser feita com base em amostras de DNA obtidas de diferentes fontes, como penas e sangue, e posterior amplificação de regiões dos genes CHD-Z e CHD-W (chromo helicase-DNA binding). Os dados de perfis genéticos sexoespecíficos servem de subsídio a programas conservacionistas de manutenção e/ou reprodução em cativeiro e posterior soltura ou reintrodução dos animais em ambiente natural

A Case of IFAP Syndrome with Severe Atopic Dermatitis

Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Short stature and psychomotor developmental delay were also noticed. Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis. The chromosomal study showed a karyotype 46, XY. Total IgE was 374 IU/mL. One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome. Conclusions. We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations. A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed. The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis. It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier. However, no correlation phenotype/genotype could be established

Impact of carvedilol on the mitochondrial damage induced by hypoxanthine and xantine oxidase: what role in myocardial ischemia and reperfusion?

OBJECTIVES: The cardioprotective effects of carvedilol (CV) may be explained in part by interactions with heart mitochondria. The objective of this work was to study the protection afforded by CV against oxidative stress induced in isolated heart mitochondria by hypoxanthine and xanthine oxidase (HX/XO), a well-known source of reactive oxygen species (ROS) in the cardiovascular system. METHODS: Mitochondria were isolated from Wistar rat hearts (n = 8) and incubated with HX/XO in the presence and in the absence of calcium. Several methods were used to assess the protection afforded by CV: evaluation of mitochondrial volume changes (by measuring changes in the optical density of the mitochondrial suspension), calcium uptake and release (with a fluorescent probe, Calcium Green 5-N) and mitochondrial respiration (with a Clark-type oxygen electrode). RESULTS: CV decreased mitochondrial damage associated with ROS production by HX and XO, as verified by the reduction of mitochondrial swelling and increase in mitochondrial calcium uptake. In the presence of HX and XO, CV also ameliorated mitochondrial respiration in the active phosphorylation state and prevented decrease in the respiratory control ratio (p < 0.05) and in mitochondrial phosphorylative efficiency (p < 0.001). CONCLUSIONS: The data indicate that CV partly protected heart mitochondria from oxidative damage induced by HX and XO, which may be useful during myocardial ischemia and reperfusion. It is also suggested that mitochondria may be a priority target for the protective action of some compounds

Nonsecretory Multiple Myeloma – a diagnostic challenge!

The Nonsecretory Multiple Myeloma is a rare variant (1-5 %) of the classical form of multiple myeloma (MM). Although clinically similar to MM, nonsecretory multiple myeloma is not associated with a monoclonal gammopathy in serum or urine, making it difficult diagnosis this entity. The authors describe the case of an eighty-year-old man, who was admitted in September 2012 in our hospital, by acute renal failure, low back pain and disorientation. He had been well until approximately 6 months earlier, when he experienced adynamia, asthenia and weight loss (8kg). On examination, he showed no significant alterations except urinary retention requiring catheterization. The analytical study performed pointed out normocytic normochromic anemia (Hb 9.9 g/dl), renal failure and increase of B2 microglobulin (11684). The electrophoresis of serum proteins was normal, as well as urinary light chains and serum. Renal ultrasound was normal. Thoracic-abdominal-pelvic computed tomography (CT) revealed multiple osteolytic metastases, associated to a mass of soft tissue, in pelvis bones and in several vertebral bodies. Following the study of an occult primary tumor, upper and lower endoscopy, bronchofibroscopy with bronchoalveolar lavage, prostate and thyroid ultrasound were performed and showed no changes. The magnetic resonance imaging of the spine revealed multiple infiltrative lesions of the cervical-dorsal-lumbar-sacred vertebrae, pathological fractures of the vertebral bodies of D4, D7 and D9 and a mass of soft tissue/infiltrative component in D12. It also displayed secondary infiltrative lesions of iliac bones and some ribs. The positron emission tomography (PET) showed avidity for 18FDG in iliac and sternal body. The patient underwent CT-guided aspiration biopsy of iliac lesion, which result was negative for neoplastic involvement. This result led to the completion of two additional biopsies directed at D12, both inconclusive. It was instituted systemic corticosteroid therapy and fluid therapy with good clinical outcome, which allowed the patient’s discharge to the outpatients’ department. Five months later, he was re-admitted for low back pain, decreased strength in the lower limbs, worsening of renal function and hypercalcemia. He made a new thoracic-abdominal-pelvic CT scan, which revealed progression of lytic lesions, affecting all bone parts and increasing bone mass on D12, conditioning extensive lysis of the vertebral bodies. Given the exuberance of the lesion on D12 and the consequent damage to adjacent structures, an open biopsy was held and radiotherapy for symptomatic control was initiated. The histological result of the biopsy revealed plasmacytoma/multiple myeloma with restriction of kappa light chains. The patient was referred to the Oncology Service, and started dexamethasone in high doses. The bone biopsy showed 49% of plasmocytes, all with abnormal phenotypic characteristics. The nonsecretory multiple myeloma is an uncommon entity, with clinical presentation similar to MM, which diagnosis requires histological evidence of plasmocytic infiltration. Limitations inherent to biopsy may delay correct treatment. However, whenever we are faced with an elderly with bone pain, acute renal failure and anemia of unknown etiology, one need to persist in the diagnosis of MM, not forgetting this rare entity that is nonsecretory multiple myeloma

Genitourinary Syndrome of Menopause: Epidemiology, Physiopathology, Clinical Manifestation and Diagnostic

Genitourinary syndrome of menopause (GSM) is a term used to define a compilation of signs and symptoms arising from decreased estrogenic stimulation of the vulvovaginal and lower urinary tract. Among 27-84% of women in postmenopausal are affected for symptoms of GSM, and these can unquestionably impair health, sexual function, consequently the quality of life of these women. The main signs and symptoms of GSM include, among others, burning, irritation, vulvovaginal dryness, dyspareunia, urinary symptoms of urgency, dysuria, or recurrent urinary tract infection. The diagnosis can be made through anamnesis, questionnaires, physical exams, and, sometimes, complementary exams. Objective vaginal assessment is essential and can be complemented by using the Vaginal Health Index (VHI), Vaginal Maturation Index (VMI), or vaginal pH measurement. The acknowledgment of this condition by health professionals is crucial for its identification and proper management and exclusion of other conditions that make a differential diagnosis with it.info:eu-repo/semantics/publishedVersio