RESUMO
INTRODUCTION: Lewy body dementia (LBD) is the most frequent of the degenerative dementias, after Alzheimer's disease. AIM: To analyse the core biomarkers of Alzheimer's disease in the cerebrospinal fluid of exclusively Hispanic patients with prodromal LBD, in order to determine whether there is involvement of the amyloid pathway or the tau pathway. PATIENTS AND METHODS: Between 2008 and 2017 we included 430 patients with mild cognitive impairment according to Petersen criteria, from three hospitals in the province of Alicante. They underwent clinical check-ups every 6-12 months to evaluate their clinical stability or their progression to dementia using current clinical criteria. Among other complementary tests, biomarkers for Alzheimer's disease in the cerebrospinal fluid were analysed. RESULTS: Of all the patients included, 26 developed LBD and 29 remained stable for at least five years, and were thus considered as a reference. In this group only five (17%) had Abeta(1-42) protein values below normal, whereas 16 (55%) of the patients with LBD had altered levels. No differences were found in the levels of tau protein. On comparing the LBD groups with and without amyloidosis, differences were only found in the levels of Abeta(1-42) protein. CONCLUSIONS: We highlight the frequent presence of amyloid pathology in prodromal LBD in our population, and the probable involvement of different metabolic pathways in the same clinically defined dementia.
TITLE: Frecuente alteracion de la via amiloide en la demencia con cuerpos de Lewy prodromica.Introduccion. La demencia con cuerpos de Lewy (DCLW) es la mas frecuente de las degenerativas, despues de la enfermedad de Alzheimer. Objetivo. Analizar los biomarcadores core de la enfermedad de Alzheimer en el liquido cefalorraquideo de pacientes exclusivamente hispanos con DCLW prodromica, para conocer si existe alteracion de la via amiloide o de la via tau. Pacientes y metodos. Entre 2008-2017 incluimos a 430 pacientes con deterioro cognitivo leve segun los criterios de Petersen, procedentes de tres hospitales de la provincia de Alicante. Se les realizaron revisiones clinicas cada 6-12 meses para evaluar su estabilidad clinica o la progresion a demencia utilizando los criterios clinicos vigentes. Entre otras pruebas complementarias se analizaron los biomarcadores de enfermedad de Alzheimer en el liquido cefalorraquideo. Resultados. Entre todos los pacientes incluidos, 26 desarrollaron DCLW y 29 se mantuvieron estables durante al menos cinco años, por lo que los consideramos como referencia. En este grupo solamente cinco (17%) tenian valores de proteina Abeta(1-42) inferiores a la normalidad, mientras que 16 (55%) de los pacientes con DCLW tenian niveles alterados. No se encontraron diferencias en los niveles de las proteinas tau. Al comparar los grupos con DCLW con y sin amiloidosis solamente encontramos diferencias en los niveles de proteina Abeta(1-42). Conclusiones. Destacamos la frecuente presencia de patologia amiloidea en la DCLW prodromica en nuestra poblacion y la probable alteracion de diferentes vias metabolicas en una misma demencia clinicamente definida.
Assuntos
Peptídeos beta-Amiloides/líquido cefalorraquidiano , Disfunção Cognitiva/líquido cefalorraquidiano , Doença por Corpos de Lewy/líquido cefalorraquidiano , Fragmentos de Peptídeos/líquido cefalorraquidiano , Proteínas tau/líquido cefalorraquidiano , Idoso , Doença de Alzheimer/líquido cefalorraquidiano , Biomarcadores/líquido cefalorraquidiano , Progressão da Doença , Feminino , Seguimentos , Demência Frontotemporal/líquido cefalorraquidiano , Humanos , Masculino , Pessoa de Meia-Idade , Fosforilação , Processamento de Proteína Pós-Traducional , Estudos Retrospectivos , EspanhaRESUMO
The objective of this study was to perform a genomewide association study (GWAS) for growth traits in Charolais beef cattle and to identify SNP markers and genes associated with these traits. Our study included 855 animals genotyped using 76,883 SNP from the GeneSeek Genomic Profiler Bovine HD panel. The examined phenotypic data included birth, weaning, and yearling weights as well as pre- and postweaning ADG. After quality control, 68,337 SNP and 823 animals were retained in the analysis. The association analysis was performed using the principal components method via the egscore function of the GenABEL version 1.8-0 package in the R environment. Eighteen SNP located in 13 BTA were associated with growth traits ( < 5 × 10). The most important genes in these genomic regions were (), (), (), (), and ( [angiotensinase C]), due to their relationships with perinatal and postnatal survival, bone growth, cell adhesion, regulation of adipogenesis, and appetite. In conclusion, this study is the first to describe a GWAS conducted in beef cattle in Mexico and represents a basis for further and future research. This study detected new QTL associated with growth traits and identified 5 positional and functional candidate genes that are potentially involved in variations of the analyzed traits. Future analyses of these regions could help to identify useful markers for marker-assisted selection and will contribute to the knowledge of the genetic basis of growth in cattle and be a foundation for genomic predictions in Mexican Charolais cattle.
Assuntos
Bovinos/genética , Estudo de Associação Genômica Ampla/veterinária , Animais , Bovinos/crescimento & desenvolvimento , Feminino , Genoma , Genômica , Genótipo , Masculino , México , Fenótipo , Polimorfismo de Nucleotídeo Único , GravidezAssuntos
Analgesia Epidural/métodos , Analgesia Obstétrica/métodos , Angioedema/complicações , Complicações na Gravidez/imunologia , Adulto , Anestésicos Locais/administração & dosagem , Angioedema/classificação , Angioedema/genética , Angioedema/fisiopatologia , Antifibrinolíticos/uso terapêutico , Bupivacaína/administração & dosagem , Estrogênios/fisiologia , Feminino , Humanos , Edema Laríngeo/prevenção & controle , Complicações do Trabalho de Parto/prevenção & controle , Gravidez , Ácido Tranexâmico/uso terapêuticoRESUMO
MAIN OBJECTIVE: to understand the significance and sense of bioethics for social work/health professionals; the secondary objective is to quantify the bioethics training given in IMSALUD primary care. DESIGN: Interviews with key reporters. Face-to-face interviews with people in charge of the training and research departments. SETTING: The 11 primary health care areas of IMSALUD. PARTICIPANTS AND/OR CONTEXTS: Key reporters (1 for each health area) chosen by heads of teaching: people working in the area with a specific weight or personal interest in bioethics. METHOD: 11 key reporters (1 for each health area); telephone contact and mailing of open-question questionnaire. RESULTS: Bioethics is implicit in daily activity, but unconsciously. General rejection due to its themes, which involve self-criticism. Ethical conflicts basically arising from the relationship of health workers with patients and the family, especially concerning information-giving, were pointed to. Themes considered very important were informed consent and confidentiality. Other ethical problems were allocation and distribution of limited resources, responsibility for taking up situations that worsen health care (lists too long, burnt-out companions, malpractice...). More training, both practical and theoretical, and more time to perform tasks were called for. CONCLUSIONS: The strategy to improve health professionals' ethical approach is to increase their Bioethics training. Very little bioethics training is provided for social work/health professionals by primary care management in the Community of Madrid.
Assuntos
Bioética/educação , Atenção Primária à Saúde , EspanhaRESUMO
The human placental mitochondria have an ATP-diphosphohydrolase (apyrase) activity. In this paper we characterized the effect of 5'-p-fluorosulfonylbenzoyl adenosine (FSBA) on placental apyrase, and its repercussion on progesterone synthesis and oxygen consumption. Apyrase activity was inhibited by FSBA. Nucleosides tri- and diphosphates protected against FSBA inactivation, but divalent cations did not, indicating that FSBA attaches itself to an ATP-binding site of apyrase. In mitochondria, the inactivation of apyrase by FSBA was associated with inhibition of progesterone synthesis. Also, the oxygen consumption induced by ATP but not by ADP, was inhibited, clearly showing that FSBA exclusively inactivated the apyrase in human placental mitochondria. It is concluded that the apyrase activity is closely related to progesterone synthesis, probably associated with the cholesterol transport between mitochondrial membranes.
Assuntos
Adenosina/análogos & derivados , Adenosina/farmacologia , Mitocôndrias/metabolismo , Placenta/metabolismo , Progesterona/biossíntese , Adenosina/metabolismo , Apirase/antagonistas & inibidores , Sítios de Ligação , Feminino , Humanos , Cinética , Consumo de Oxigênio/efeitos dos fármacos , Placenta/ultraestrutura , Gravidez , Progesterona/antagonistas & inibidores , Proteínas/metabolismoRESUMO
The case concerned is one of lymphangiomyomatosis (LAM) in a woman aged 39, that after a episode of spontaneous pneumothorax was subject to medical research for progressive dyspnea of medium efforts and bloodstained sputum. High resolution CT showed numerous thin-walled cystic airspaces of varying sizes distributed diffusely throughout the lungs. The abdominal CT and ultrasound developed multiple right renal angiomyolipomas. The histopathological study of the sample obtained by open lung biopsy was conclusive of LAM. The main feature of this rare disease, which occurs almost exclusively in women of reproductive age, is the abnormal proliferation of immature smooth muscle at the level of the distal airway, small blood vessels and lung lymphatic system, including sometimes the mediastinal and retroperitoneal lymphatic system. The clinical, functional, radiological and differential diagnostic aspects with entities histopathologically similarities are discussed and the therapeutic possibilities are reviewed.