693 research outputs found
Subclinical Cushing's syndrome in populations at risk
Based on autopsy studies, adrenal masses are among the most common tumors in humans. Endogenous Cushing's syndrome (CS) is unusual and adrenal adenomas account for 10% of all cases of CS. Patients with subclinical CS (SCS) present abnormal cortisol dynamics without obvious manifestations. The prevalence of hypercortisolism in clinically inapparent adrenal masses has been reported as 9%. Data from several small series of patients indicate that fewer than 20% develop hormone overproduction when followed for up to 10 years. Follow-up of patients with subclinical CS suggests that rarely masses increase in size or progress to overt CS. Adrenal incidentalomas and subclinical CS are related to metabolic disorders, in special to type-2 diabetes. The scarce available data suggest that treatment of hypercortisolism correct the metabolic abnormalities and blood pressure. Some studies evaluating the prevalence of subclinical CS in overweight type-2 diabetes patients suggest that it is considerably higher in populations at risk than in the general population.Os incidentalomas de adrenais (IA) sĂŁo tumores freqĂĽentes em humanos. A sĂndrome de Cushing (SC) endĂłgena Ă© rara e os adenomas de adrenais sĂŁo responsáveis por 10% dos casos de SC. A SC subclĂnica ocorre em IA com dinâmica do cortisol anormal e ausĂŞncia de fenĂłtipo caracterĂstico de hipercortisolismo. A prevalĂŞncia mĂ©dia de SC subclĂnica em IA Ă© de 9%. Dados de pequenas sĂ©ries indicam que 20% dos IA desenvolvem alterações bioquĂmicas quando acompanhados por 10 anos. A evolução da SC subclĂnica parece ser benigna, raramente ocorrendo aumento da massa e evolução para a SC clinicamente manifesta. Os incidentalomas e a SC subclĂnica tĂŞm sido correlacionados aos componentes da sĂndrome metabĂłlica, especialmente ao diabetes mellitus do tipo 2. Embora o nĂşmero de pacientes avaliados ainda seja pequeno, os estudos disponĂveis demonstram que o tratamento do hipercortisolismo resulta em melhor controle metabĂłlico e da pressĂŁo arterial. Esses achados levaram alguns autores a pesquisar a presença de SC subclĂnica em pacientes com diagnĂłstico prĂ©vio de diabetes mellitus. Os estudos realizados utilizando diferentes abordagens diagnĂłsticas mostraram que nesse grupo de pacientes a incidĂŞncia de SC subclĂnica Ă© maior do que na população geral.Universidade Federal de SĂŁo Paulo (UNIFESP) Departamento de Medicina Disciplina de EndocrinologiaUniversidade Federal de Pernambuco Hospital das ClĂnicas DivisĂŁo de EndocrinologiaUNIFESP, Depto. de Medicina Disciplina de EndocrinologiaSciEL
Aumento da probabilidade diagnĂłstica de sĂndrome de cushing subclĂnica em uma amostra populacional de pacientes adultos obesos com diabetes mellitus tipo 2
Endogenous Cushing s Syndrome (CS) is unusual. Patients with subclinical CS (SCS) present altered cortisol dynamics without obvious manifestations. CS occurs in 2-3% of obese poorly controlled diabetics. We studied 103 overweight adult outpatients with type 2 diabetes to examine for cortisol abnormalities and SCS. All collected salivary cortisol at 23:00 h and salivary and serum cortisol after a 1 mg dexamethasone suppression test (DST). Patients whose results were in the upper quintile for each test (253 ng/dL, 47 ng/dL, and 1.8 mg/dL, respectively for the 23:00 h and post-DST saliva and serum cortisol) were re-investigated. Average values from the upper quintile group were 2.5-fold higher than in the remaining patients. After a confirmatory 2 mg x 2 day DST the investigation for CS was ended for 61 patients with all normal tests and 33 with only one (false) positive test. All 8 patients who had two abnormal tests had subsequent normal 24h-urinary cortisol, and 3 of them were likely to have SCS (abnormal cortisol tests and positive imaging). However, a final diagnosis could not to be confirmed by surgery or pathology. Although not confirmatory, the results of this study suggest that the prevalence of SCS is considerably higher in populations at risk than in the general population.A sĂndrome de Cushing (SC) endĂłgena Ă© rara. Pacientes com SC subclĂnica (SCS) apresentam hipercortisolismo sem manifestações clĂnicas. SC ocorre em 2-3% de diabĂ©ticos mal controlados. Estudamos 103 pacientes adultos obesos ambulatoriais com diabetes mellitus tipo 2 para avaliar alterações do cortisol e SCS. Todos coletaram cortisol salivar Ă s 23:00 h e cortisol salivar e sĂ©rico apĂłs teste de supressĂŁo com 1 mg de dexametasona (DST). Pacientes cujos resultados de qualquer teste estavam no quintil superior (253 ng/dL, 47 ng/dL e 1,8 mg/dL, respectivamente para cortisol salivar 23:00 h e salivar e sĂ©rico pĂłs-DST) foram reavaliados. Os valores mĂ©dios desse grupo encontravam-se 2,5 vezes acima dos valores dos demais pacientes. ApĂłs um teste confirmatĂłrio com 2 mg x 2 dias DST, a investigação da SC foi encerrada para 61 pacientes com todos os testes normais e 33 com apenas um teste (falso) positivo. Todos os 8 pacientes com dois testes alterados apresentaram cortisol urinário normal, mas 3 deles mostraram maior probabilidade diagnĂłstica de SCS (hipercortisolismo e alterações em exames de imagem). Contudo, o diagnĂłstico final nĂŁo pode ser confirmado por cirurgia ou patologia em nenhum deles. Embora nĂŁo confirmatĂłrios, os resultados deste estudo sugerem que a prevalĂŞncia de SCS seja maior em populações de risco do que na população geral.Federal University of SĂŁo Paulo Department of Medicine Division of EndocrinologyUNIFESP, Department of Medicine Division of EndocrinologySciEL
Class I BASIC PENTACYSTEINE factors regulate HOMEOBOX genes involved in meristem size maintenance
The BASIC PENTACYSTEINE (BCP) family is a poorly characterized plant transcription factor family of GAGA BINDING PROTEINS. In Arabidopsis, there are seven members (BPC1-7) that are broadly expressed, and they can potentially bind more than 3000 Arabidopsis GAGA-repeat-containing genes. To date, BPCs are known to be direct regulators of the INNER NO OUTER (INO), SEEDSTICK (STK), and LEAFY COTYLEDON 2 (LEC2) genes. Because of the high functional redundancy, neither single knockout nor double bpc mutant combinations cause aberrant phenotypes. The bpc1-2 bpc2 bpc3 triple mutant shows several pleiotropic developmental defects, including enlargement of the inflorescence meristem and flowers with supernumerary floral organs. Here, we demonstrated through expression analysis and chromatin immunoprecipitation assays that this phenotype is probably due to deregulation of the expression of the SHOOTMERISTEMLESS (STM) and BREVIPEDICELLUS/KNAT1 (BP) genes, which are both direct targets of BPCs. Moreover, we assigned a role to BPCs in the fine regulation of the cytokinin content in the meristem, as both ISOPENTENYLTRANSFERASE 7 (IPT7) and ARABIDOPSIS RESPONSE REGULATOR 7 (ARR7) genes were shown to be overexpressed in the bpc1-2 bpc2 bpc3 triple mutant
Perfil caracterĂstico das atividades 17-hidroxilase e 17,20-liase reveladas por meio do metaboloma de esteroides urinários de pacientes com deficiĂŞncia de CYP17
OBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most prevalent mutations in Brazil. SUBJECTS AND METHODS: 20 genotyped cCYP17D patients from a previously reported cohort were homozygous for W406R or R362C; 11 controls were CYP17 wild types (WT). WT and cCYP17D patients had S and U samples drawn to measure: cortisol (F), corticosterone (B), deoxycorticosterone (DOC), 18OH-B, 18OH-DOC, and 17OHP; and tetrahydro (TH)-B, THA, THDOC, THF+5α-THF, TH-cortisone, androsterone, etiocholanolone, 5-pregnenediol, 17OH-pregnenolone and pregnanetriol. RESULTS: Compared to WT, cCYP17D patients had marked elevations of B, DOC, 18OH-B and 18OH-DOC, whereas 17OHP, F and adrenal androgens (AA) were reduced; U steroids parallel S findings. Metabolite ratios revealed that both 17OH and 17,20L activities were impaired in cCYP17D. There were nodifferences between W406R andR362C mutations. CONCLUSIONS: cCYP17D patients show parallel overproduction/overexcretion of 17-deoxysteroids, and marked reduction of F and AA. In addition to 17OH, 17,20-L activity was also impaired in cCYP17D. W406 and R362C mutations disclose similar Sand U patterns.OBJETIVOS: (1) Caracterizar os esteroides sĂ©ricos (S) e urinários (U) na deficiĂŞncia completa da CYP17 (DcCYP17); (2) analisar as atividades da 17α-hidroxilase (17OH) e 17,20-liase (17, 20 L) in vivo; e (3) comparar as duas mutações mais prevalentes no Brasil. SUJEITOS E MÉTODOS: 20 pacientes genotipados para a DcCYP17, de uma coorte anterior, eram homozigotos para W406R ou R362C (8 cada); 11 controles eram CYP17 wild types (WT). Amostras de S e U foram colhidas dos WT e pacientes para dosagem de: cortisol (F), corticosterona (B), deoxicorticosterona (DOC), 18-OH-B, 18OH-DOC e 17OHP; e tetraidro(TH)-B, THA, TH-DOC, THF+5α-THF, THE, androsterona, etiocolanolona, 5-pregnenediol, 17OH-pregnenolona e pregnanetriol. RESULTADOS: Comparados aos WT, os pacientes com DcCYP17 revelaram elevações acentuadas de B, DOC, 18OHB e 18OHDOC, enquanto 17OHP, F e andrĂłgenos adrenais (AA) estavam reduzidos. Os esteroides na U acompanham os achados no S. As relações de metabĂłlitos mostraram que as atividades de 17OH e 17,20L estavam reduzidas em pacientes com DcCYP17. NĂŁo houve diferenças entre pacientes com as mutações W406R e R362C. CONCLUSĂ•ES: Na DcCYP17, a produção e a excreção dos 17-deoxiesteroides estĂŁo aumentadas em paralelo, em contraste com a reduzida produção/excreção de F e AA. As atividades da 17OH e 17,20-L estĂŁo diminuĂdas na DcCYP17. As mutações W406 e R362C apresentam achados semelhantes em S e U.Universidade Federal de SĂŁo Paulo (UNIFESP) Department of Medicine Division of Endocrinology and MetabolismUniversity of Texas Southwestern Medical Center Department of Clinical SciencesUniversity of Birmingham Division of Medical SciencesUNIFESP, Department of Medicine Division of Endocrinology and MetabolismSciEL
Gynoecium size and ovule number are interconnected traits that impact seed yield
Angiosperms form the biggest group of land plants and display an astonishing diversity of floral structures. The development of the flowers greatly contributed to the evolutionary success of the angiosperms as they guarantee efficient reproduction with the help of either biotic or abiotic vectors. The female reproductive part of the flower is the gynoecium (also called pistil). Ovules arise from meristematic tissue within the gynoecium. Upon fertilization, these ovules develop into seeds while the gynoecium turns into a fruit. Gene regulatory networks involving transcription factors and hormonal communication regulate ovule primordium initiation, their spacing on the placenta, and ovule development. Ovule number and gynoecium size are usually correlated and several genetic factors that impact these traits have been identified. Understanding and fine-tuning the gene regulatory networks influencing ovule number and pistil length opens up strategies for crop yield improvement, which is pivotal in light of a rapidly growing world population. In this review, we present an overview of the current knowledge of the genes and hormones involved in determining ovule number and gynoecium size. We propose a model for the gene regulatory network that guides the developmental processes that determine seed yield
Fatty tissue within the maxillary sinus: a rare finding.
BACKGROUND: We report a rare case of fatty tissue within the maxillary sinus in a 21-years-old woman, with a history of several previous punctures of the maxillary sinus. CASE PRESENTATION: Clinical data of the patient was analysed retrospectively. The patient presented with symptoms of left-sided chronic maxillary sinusitis and had undergone several punctures of the left maxillary sinus 18 months earlier. Subsequent to one of the procedures an acute pain in the left orbit lasting a couple of days was noted. Left endoscopic transnasal antrotomy was performed. The maxillary sinus was filled with polypous, chronically inflamed mucous membrane. Upon its removal, the maxillary roof was identified as drawn downwards and covered with normal mucous membrane. Upon dissection of the membrane, adipose tissue filling the zygomatic recess of the sinus was identified and subsequently removed. The maxillary roof was unchanged. Histopatologic examination confirmed the material to be adipose tissue. No short or long term sequelae occurred. CONCLUSION: Adipose tissue can be found in the maxillary sinus most commonly when penetrating from surrounding locations. It is our hypothesis that in the reported patient it penetrated from the orbit to the maxillary sinus following puncture. It seems that a hole in the maxillary sinus roof, about 1 mm in diameter, caused by the needle, may have been a portal of entry for the adipose tissue into the maxillary sinus. The discussed case suggests particular care be taken in performing puncture of the maxillary sinus
Generation of Functional CLL-Specific Cord Blood CTL Using CD40-Ligated CLL APC
PMCID: PMC3526610This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
REM34 and REM35 control female and male gametophyte development in Arabidopsis thaliana
The REproductive Meristem (REM) gene family encodes for transcription factors belonging to the B3 DNA binding domain superfamily. In Arabidopsis thaliana the REM gene family is composed of 45 members, preferentially expressed during flower, ovule and seed development. Only a few members of this family have been functionally characterized: VERNALIZATION1 (VRN1) and most recently TARGET OF FLC AND SVP1 (TFS1) regulate flowering time and VERDANDI (VDD), together with VALKYRIE (VAL) control the death of the receptive synergid cell in the female gametophyte. We investigated the role of REM34, REM35 and REM36, three closely related and linked genes similarly expressed in both female and male gametophytes. Simultaneous silencing by RNA interference (RNAi) caused about 50% of the ovules to remain unfertilized. Careful evaluation of both ovule and pollen development showed that this partial sterility of the transgenic RNAi lines was due to a post meiotic block in both female and male gametophytes. Furthermore, protein interaction assays revealed that REM34 and REM35 interact, which suggests that they work together during the first stages of gametogenesis
The simulation of the activity dependent neural network growth
It is currently accepted that cortical maps are dynamic constructions that
are altered in response to external input. Experience-dependent structural
changes in cortical microcurcuts lead to changes of activity, i.e. to changes
in information encoded. Specific patterns of external stimulation can lead to
creation of new synaptic connections between neurons. The calcium influxes
controlled by neuronal activity regulate the processes of neurotrophic factors
released by neurons, growth cones movement and synapse differentiation in
developing neural systems. We propose a model for description and investigation
of the activity dependent development of neural networks. The dynamics of the
network parameters (activity, diffusion of axon guidance chemicals, growth cone
position) is described by a closed set of differential equations. The model
presented here describes the development of neural networks under the
assumption of activity dependent axon guidance molecules. Numerical simulation
shows that morpholess neurons compromise the development of cortical
connectivity.Comment: 10 pages, 2 figure
- …