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1.
Osteoarthritis Cartilage ; 26(2): 276-284, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29196131

RESUMO

OBJECTIVE: Adipokines have been reported to play a role in the development, progression and severity of knee osteoarthritis but the influence of the different adipokines are not well known. The aim of this study was to evaluate the association between different synovial fluid adipokines with pain and disability knee osteoarthritis patients. METHODS: Cross-sectional study with systematic inclusion of 115 symptomatic primary knee osteoarthritis female patients with ultrasound-confirmed joint effusion. Age, physical exercise, symptoms duration and different anthropometric measurements were collected. Radiographic severity was evaluated according to Kellgren-Lawrence scale. Pain and disability were assessed by WOMAC-total, -pain, -function subscales and Knee injury and Osteoarthritis Outcome Score (KOOS) pain and function scales. Seven adipokines and three inflammatory markers were measured by ELISA in synovial fluid. Partial Correlation Coefficient (PCC) and corresponding 95% confidence interval were used as a measure of association. RESULTS: Leptin, osteopontin and inflammatory factors, especially TNF-alpha, were associated to pain and function. After adjustment for potential confounders including inflammatory factors and all adipokines, an association was found for adiponectin with pain (PCC 0.240 [0.012, 0.444]) and for resistin and visfatin with function (PCC 0.336 [0.117, 0.524] and -0.262 [-0.463, -0.036]). No other adipokines or inflammatory markers were statistically and independently associated. An association between physical exercise and pain and disability remained after adjustment, whereas an attenuation of the influence of anthropometric measurements was observed. CONCLUSIONS: Different patterns of association between synovial fluid adipokines were observed regarding pain and disability in knee osteoarthritis patients. Specifically, adiponectin was associated to pain while resistin and visfatin were mainly related to function.


Assuntos
Adipocinas/fisiologia , Osteoartrite do Joelho/metabolismo , Líquido Sinovial/metabolismo , Idoso , Idoso de 80 Anos ou mais , Antropometria/métodos , Estudos Transversais , Avaliação da Deficiência , Exercício Físico/fisiologia , Feminino , Humanos , Mediadores da Inflamação/metabolismo , Pessoa de Meia-Idade , Osteoartrite do Joelho/diagnóstico por imagem , Osteoartrite do Joelho/fisiopatologia , Medição da Dor/métodos , Radiografia , Índice de Gravidade de Doença
2.
Scand J Rheumatol ; 45(1): 41-44, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26312543

RESUMO

OBJECTIVES: To evaluate the frequency of cardiovascular events (CVEs) and metabolic syndrome (MetS) in patients with symptomatic knee or hand osteoarthritis (OA). METHOD: A cross-sectional study conducted by rheumatologists in a primary care setting. Consecutive symptomatic patients with primary knee or hand OA were included and patients with soft tissue conditions served as the control group. Hypertension, diabetes mellitus, obesity, dyslipidaemia, and CVEs consisting of myocardial infarction, angina, or cerebrovascular disease were recorded. RESULTS: A total of 254 OA patients (184 with knee OA and 70 with hand OA) and 254 control patients were included. The frequency of obesity was higher in all OA groups and hypertension was more frequent in knee OA. MetS was significantly more frequent in patients with OA as a whole group and in knee or hand OA groups separately (p < 0.001, p = 0.002, and p = 0.007, respectively, vs. control group), with odds ratio (OR) 2.4, 95% confidence interval (CI) 1.26-4.55 in the OA group, OR 2.29, 95% CI 1.15-4.54 in the knee OA group, and OR 2.67, 95% CI 1.15-6.19 in the hand OA group. A higher prevalence of CVEs in the three OA groups was observed compared with the control group. CONCLUSIONS: A high frequency of MetS and CVEs was observed in OA patients in a primary care setting.

3.
Mol Hum Reprod ; 19(2): 102-8, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23100464

RESUMO

Mutations in the spindle checkpoint genes can cause improper chromosome segregations and aneuploidies, which in turn may lead to reproductive problems. Two of the proteins involved in this checkpoint are Aurora kinase B (AURKB), preventing the anaphase whenever microtubule-kinetochore attachments are not the proper ones during metaphase; and synaptonemal complex protein 3 (SYCP3), which is essential for the formation of the complex and for the recombination of the homologous chromosomes. This study has attempted to clarify the possible involvement of both proteins in the reproductive problems of patients with chromosomal instability. In order to do this, we have performed a screening for genetic variants in AURKB and SYCP3 among these patients using Sanger sequencing. Only one apparently non-pathogenic deletion was found in SYCP3. On the other hand, we found six sequence variations in AURKB. The consequences of these changes on the protein were studied in silico using different bioinformatic tools. In addition, the frequency of three of the variations was studied using a high-resolution melting approach. The absence of these three variants in control samples and their position in the AURKB gene suggests their possible involvement in the patients' chromosomal instability. Interestingly, two of the identified changes in AURKB were found in each member of a couple with antecedents of spontaneous pregnancy loss, a fetal anencephaly and a deaf daughter. One of these changes is described here for the first time. Although further studies are necessary, our results are encouraging enough to propose the analysis of AURKB in couples with reproductive problems.


Assuntos
Proteínas Nucleares/genética , Proteínas Serina-Treonina Quinases/genética , Reprodução/fisiologia , Aurora Quinase B , Aurora Quinases , Proteínas de Ciclo Celular , Instabilidade Cromossômica/genética , Proteínas de Ligação a DNA , Feminino , Humanos , Masculino , Mutação , Gravidez , Reprodução/genética
4.
Spectrochim Acta A Mol Biomol Spectrosc ; 292: 122400, 2023 May 05.
Artigo em Inglês | MEDLINE | ID: mdl-36739665

RESUMO

Here, we studied the interaction between the food colorant tartrazine (TZ) and double stranded DNA (dsDNA), using spectroscopic, electrochemical, and computational methods such as QM/MM combined with TD-DFT. Despite the UV-vis spectroscopy is widely used to study the interaction between molecules, for the case of TZ there are discrepancies in the analyses presented in the literature available, presenting both hyperchromic and hypochromic effects and consequently different rationalizations for their results. Herein we propose the combination of UV-vis experiments with the design of high-level computational models capable of reproducing the experimental behavior to finally define the proper binding mode at the molecular scale together with the rationalization of the experimental optical response due to the complex formation. To complement the UV-vis experiments, we propose the use of electrochemical measurements, to support the results obtained through UV-vis spectroscopy, as it has been successfully used for the determination of interaction modes between small molecules and biomolecules in any condition. Our UV-vis spectroscopy experiments showed only a hypochromic effect of the absorption spectra of TZ after interaction with DNA, indicative of TZ being deeply buried in the DNA structure. The effect of ionic strength in the experimental procedures led to the dissociation of TZ, thus indicating that the interaction mode was groove binding. On the other hand, the electrochemical studies showed an irreversible reduction peak of TZ, which after the interaction with DNA exhibited a positive shift in potential that can be attributed to groove binding. The binding constant for TZ-DNA was calculated as 4.45x104M-1 (UV-vis) and 5.75x104M-1 (electrochemistry), in line with other groove binder azo dyes. Finally, through the QM/MM calculations we found that the minor-groove binding mode interacting in zones rich in adenine and thymine was the model best suited to reproduce the experimental UV-vis response.


Assuntos
DNA , Tartrazina , Tartrazina/química , Espectrofotometria Ultravioleta , DNA/química
5.
Andes Pediatr ; 94(1): 29-36, 2023 Jan.
Artigo em Espanhol | MEDLINE | ID: mdl-37906868

RESUMO

In Chilean children and adolescents, human papillomavirus (HPV) infection prevalence is unknown. In 2014, the HPV vaccine was incorporated into the National Immunization Program for girls, and since 2019 for boys. OBJECTIVE: To determine the prevalence, genotypes, and characteristics of HPV infection in children and adolescents with anogenital lesions not vaccinated against HPV. PATIENTS AND METHOD: Children and adolescents with anogenital lesions who consulted at the Luis Calvo Mackenna Children's Hospital between 2013 and 2017 were studied. The reason for consultation, age, sex, family history of HPV lesions, history of sexual abuse, and consensual sexual activity were recorded. HPV was detected by PCR and typification by reverse hybridization of the L1 gene. The samples were analyzed in the Oncogenic Virus Section of the Institute of Public Health. RESULTS: 110 patients were studied; 44.5% were children. HPV was detected in 34 cases (30.9% [CI95% 22.4- 40.4]), 22 (44.9%) were children and 12 (19.7%) adolescents. Eleven (91.7%) adolescents had a history of sexual con tact (p < 0.005); 4 (18.2%) children disclosed sexual abuse. HPV was found in 25% of patients with genital lesions and 50% with perianal lesions (p < 0.015). The most frequent genotypes were 59, 58, 16, 18, 6, and 11. Only low-risk genotypes were detected in children and high-risk genotypes were detected in 11/12 (91.7%) of HPV (+) adolescents. CONCLUSION: The prevalence of HPV infection was 30%. In adolescents, the infection was related to sexual contact and high-risk HPV. In children, it was associated with low-risk genotypes. Perianal lesions are more frequently associated with HPV infec tion than genital lesions in children and adolescents. The visual inspection does not allow to specify the etiology of the genital lesions, so it is necessary to perform a PCR test for HPV.


Assuntos
Infecções por Papillomavirus , Vacinas contra Papillomavirus , Masculino , Feminino , Humanos , Criança , Adolescente , Infecções por Papillomavirus/epidemiologia , Infecções por Papillomavirus/prevenção & controle , Papillomavirus Humano , Estudos Transversais , Papillomaviridae/genética
6.
Osteoporos Int ; 23(2): 607-14, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21394494

RESUMO

SUMMARY: In a cross-sectional study including 324 patients older than 65 years admitted to our hospital for osteoporotic hip fracture, we found that those patients with a more severe vitamin D deficiency had more severe osteoporotic hip fractures (Garden grades III-IV and Kyle III-IV). INTRODUCTION: To identify possible differences in baseline characteristics of patients with different types of osteoporotic hip fracture. METHODS: Cross-sectional study including consecutive individuals over 65 admitted to our hospital for osteoporotic hip fracture over a year. Demographic data, fracture type, comorbidities, history of osteoporosis, functional capacity, nutritional status and vitamin D storage were evaluated. RESULTS: We included 324 patients (83 ± 7 years, 80% women). Two hundred sixteen patients (67%) had vitamin D deficiency (25OHD3 <25 ng/ml). In patients with severe femoral neck or intertrochanteric fractures (Garden III-IV and Kyle III-IV), vitamin D deficiency was more frequent (74%) and severe (25OHD3 20 ± 15 ng/ml) than in patients with less severe fractures (57%, 25OHD3 26 ± 21 ng/ml). Forty-three percent of patients had previous fractures. Only 15% of patients had been previously diagnosed with osteoporosis and 10% were receiving treatment. Patients receiving vitamin D supplements have higher 20OHD3 levels and less severe fractures. CONCLUSIONS: Although vitamin D levels are not different between patients with intracapsular or extracapsular hip fractures, a more severe vitamin D deficiency seems to be associated to more severe osteoporotic hip fractures. A prior vitamin D supplementation could avoid a higher severity of these fractures.


Assuntos
Fraturas do Quadril/etiologia , Fraturas por Osteoporose/etiologia , Deficiência de Vitamina D/complicações , Atividades Cotidianas , Idoso , Idoso de 80 Anos ou mais , Calcifediol/sangue , Estudos Transversais , Suplementos Nutricionais , Feminino , Fraturas do Colo Femoral/sangue , Fraturas do Colo Femoral/etiologia , Fraturas do Colo Femoral/prevenção & controle , Fraturas do Quadril/sangue , Fraturas do Quadril/prevenção & controle , Humanos , Masculino , Estado Nutricional , Fraturas por Osteoporose/sangue , Fraturas por Osteoporose/prevenção & controle , Fatores de Risco , Índices de Gravidade do Trauma , Vitamina D/uso terapêutico , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/tratamento farmacológico
7.
ScientificWorldJournal ; 2012: 540457, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22654626

RESUMO

The presence of clustered microcalcifications is one of the earliest signs in breast cancer detection. Although there exist many studies broaching this problem, most of them are nonreproducible due to the use of proprietary image datasets. We use a known subset of the currently largest publicly available mammography database, the Digital Database for Screening Mammography (DDSM), to develop a computer-aided detection system that outperforms the current reproducible studies on the same mammogram set. This proposal is mainly based on the use of extracted image features obtained by independent component analysis, but we also study the inclusion of the patient's age as a nonimage feature which requires no human expertise. Our system achieves an average of 2.55 false positives per image at a sensitivity of 81.8% and 4.45 at a sensitivity of 91.8% in diagnosing the BCRP_CALC_1 subset of DDSM.


Assuntos
Neoplasias da Mama/diagnóstico , Calcinose/diagnóstico , Mamografia/métodos , Feminino , Humanos , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Sensibilidade e Especificidade
8.
Transplant Proc ; 54(9): 2457-2461, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36428116

RESUMO

BACKGROUND: BK polyomavirus infection (BKVi) is an important cause of kidney transplant (KT) loss, but there is scarce evidence on the impact of BK plasma viral load on graft function and long-term KT survival. METHODS: A retrospective cohort study including all KT recipients with BKVi (BK viremia identified in ≥3 consecutive samples by polymerase chain reaction) in our center from January 2010 to December 2020 was performed. A case-control study (1:2) was performed. We grouped the cases according to their highest peak viral load: low-level viremia (<10,000 copies/mL) and high-level viremia (≥10,000 copies/mL). To identify risk factors for BKVi, a logistic regression analysis was achieved, and a multivariable Cox regression was used to describe risk factors for graft loss. RESULTS: A total of 849 KTs were performed, and 67 presented BKVi (low-level viremia, n = 35 and high-level viremia, n = 26). In logistic regression analysis male sex (odds ratio [OR], 4.226; 95% CI, 1.660-10.758, P = .002), age (OR, 1.047; 95% CI, 1.008-1.088; P = .018), and retransplant (OR, 4.162; 95% CI, 1.018-17.015; P = .047) were predictors of BKVi. Acute rejection was more frequent in the BKVi group (18% vs 4.9%, P = .004), and graft survival was lower in patients with BKVi and high-level viremia (P = .027). In Cox regression analysis, BKVi (hazard ratio, 3.657; 95% CI, 1.146-11.670; P = .029) and specific BKV (BK polyomavirus) high-level viremia (hazard ratio, 1.988; 95% CI, 1.012-3.907; P = .046) were predictors of shorter graft survival. CONCLUSIONS: BKV high-level viremia was associated with BKV nephropathy and poorer graft survival. Additionally, acute rejection is more frequent after BKVi. It is necessary to develop strategies safe and effective for these patients.


Assuntos
Vírus BK , Transplante de Rim , Infecções por Polyomavirus , Infecções Tumorais por Vírus , Humanos , Masculino , Transplante de Rim/efeitos adversos , Viremia , Carga Viral , Estudos Retrospectivos , Estudos de Casos e Controles , Infecções por Polyomavirus/complicações , Infecções Tumorais por Vírus/complicações , Fatores de Risco
9.
Cytogenet Genome Res ; 135(2): 93-101, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21934280

RESUMO

Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly. On the other hand, gain of dosage of this gene causes the MECP2 duplication syndrome in males characterized by severe mental retardation, absence of speech development, infantile hypotonia, progressive spasticity, recurrent infections, and facial dysmorphism. Female carriers of a heterozygous duplication show a skewed X-inactivation pattern which is the most probable cause of the lack of clinical symptoms. In this paper, we describe a girl with a complex de novo copy number gain at Xq28 and non-skewed X-inactivation pattern that causes mental retardation and motor and language delay. This rearrangement implies triplication of the MECP2 and IRAK1 genes, but it does not span other proximal genes located in the common minimal region of patients affected by the MECP2 duplication syndrome. We conclude that the triplication leads to a severe phenotype due to random X-inactivation, while the preferential X chromosome inactivation in healthy carriers may be caused by a negative selection effect of the duplication on some proximal genes like ARD1A or HCFC1.


Assuntos
Duplicação Gênica , Deficiência Intelectual Ligada ao Cromossomo X/genética , Proteína 2 de Ligação a Metil-CpG/genética , Inativação do Cromossomo X , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Criança , Deficiências do Desenvolvimento/patologia , Face/anormalidades , Feminino , Humanos , Hibridização in Situ Fluorescente , Síndrome
10.
Cytogenet Genome Res ; 133(1): 78-83, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21228546

RESUMO

Several authors have attempted to construct a phenotype map for duplications of different portions of chromosome 18 to identify a possible critical region (CR) for Edwards Syndrome. Partial duplications of 18q have been reported in the literature involving the distal CR in patients with some clinical features of Edwards Syndrome. Here, we describe a phenotypically normal male with a large duplication on chromosome 18 that involves the proposed distal CR. The lack of clinical features is remarkable, except for pathological semen analysis, which suggests that terminal 17.4 Mb of 18q do not contain the Edwards Syndrome CR. Alternatively, unknown modifier factors or undetected somatic mosaicism might cause incomplete penetrance of this duplication.


Assuntos
Astenozoospermia/genética , Duplicação Cromossômica , Cromossomos Humanos Par 18 , Oligospermia/genética , Adulto , Astenozoospermia/complicações , Humanos , Masculino , Oligospermia/complicações , Fenótipo
11.
Andes Pediatr ; 92(2): 226-233, 2021 Apr.
Artigo em Espanhol | MEDLINE | ID: mdl-34106161

RESUMO

INTRODUCTION: The prevalence of asthma in Chile ranges from 10.2 to 14.9%. In previous studies, the Araucanía Region has not been included. OBJECTIVE: To determine the prevalence of asthma in the school po pulation of the Araucanía Region. SUBJECTS AND METHOD: The ISAAC questionnaires were used for asthma symptoms in addition to a questionnaire for recording sociodemographic data, belonging to the Mapuche ethnicity, type of heating, exposure to indoor air pollution, and family history. The Binomial Regression Model was used to evaluate the effect of each of the different variables of inter est, adjusting by age groups (6-7 and 13-14 years). The model also evaluated the additive interaction between these variables and age. RESULTS: 823 surveys were applied, where the prevalence of asthma was 14.2% and 23.2% in the 6-7 year old group and the 13-14 year old group, respectively. 43.7% de clare to be Mapuche, 32.9% live in rural areas, and 81.4% use firewood as a heating method. Through binomial regression model analysis, where for the study group, living in the coastal commune was significantly associated with a lower prevalence of asthma (-13.2% [CI: -17.7 to -8.6]. The history of an asthmatic mother was significantly associated with a higher prevalence of asthma (17.9% [CI: 2.7 to 33.1]. Living in a rural area, to be Mapuche or the type of heating used, showed differences statistically significant (p 0.18, p 0.609 and p 0.480, respectively) Conclusion: 13-14 year-olds school children in the Araucanía Region presented a higher prevalence of asthma. There was an association with asthma in the mother where this increase is not associated with living in a rural area, to be Ma puche or type of heating.


Assuntos
Asma/epidemiologia , Povos Indígenas/estatística & dados numéricos , Distribuição por Idade , Fatores Etários , Poluição do Ar em Ambientes Fechados/estatística & dados numéricos , Asma/etnologia , Criança , Chile/epidemiologia , Chile/etnologia , Estudos Transversais , Feminino , Calefação/métodos , Humanos , Mães , Prevalência , Fatores de Risco , População Rural
12.
Cytogenet Genome Res ; 127(1): 5-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-20110648

RESUMO

Submicroscopic deletions of 1q44-qter cause severe mental retardation, profound growth retardation, microcephaly and corpus callosum hypo/agenesis in most patients. At least 3 intervals in 1q44 have been described as critical regions containing genes leading to corpus callosum abnormalities. In this report we describe a patient with a de novo small interstitial 1q44 deletion of 1,152 kb detected with 44K oligonucleotide array-CGH (44K Agilent Technologies) and a mild phenotype lacking corpus callosum abnormalities. The first deleted oligonucleotide was located at 242.638 Mb (within the ADSS gene), and the last deleted oligonucleotide at 243.791 Mb (within the KIF26B gene). The clinical and molecular findings of the patient here reported remain consistent with a role for the AKT3 or ZNF238 genes in corpus callosum development.


Assuntos
Agenesia do Corpo Caloso , Deleção Cromossômica , Cromossomos Humanos Par 1 , Criança , Corpo Caloso/metabolismo , Humanos , Imageamento por Ressonância Magnética , Masculino
13.
Cytogenet Genome Res ; 125(2): 103-8, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19729912

RESUMO

Chromosomal rearrangements in the short arm of chromosome 4 can result in 2 different clinical entities: Wolf-Hirschhorn syndrome (WHS), characterized by severe growth delay, mental retardation, microcephaly, 'Greek helmet' facies, and closure defects, or partial 4p trisomy, associated with multiple congenital anomalies, mental retardation, and facial dysmorphisms. We present clinical and laboratory findings in a patient who showed a small duplication in 4p16.3 associated with a subtle terminal deletion in the same chromosomal region. GTG-banding analyses, multiplex ligation-dependent probe amplification analyses, and studies by array-based comparative genomic hybridization were performed. The results of the analyses revealed a de novo 1.3 Mb deletion of the terminal 4p and a 1.1 Mb duplication in our patient, encompassing the WHS critical region. Interestingly, this unusual duplication/deletion rearrangement results in an intermediate phenotype that shares characteristics of the WHS and the 4p trisomy syndrome. The use of novel technologies in the genetic diagnosis leads to the description of new clinical syndromes; there is a growing list of microduplication syndromes. Therefore, we propose that overexpression of candidate genes in WHS (WHSC1, WHSC2 and LETM1) due to a duplication causes a clinical entity different to both the WHS and 4p trisomy syndrome.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 4 , Duplicação Gênica , Trissomia , Síndrome de Wolf-Hirschhorn/genética , Proteínas de Ligação ao Cálcio/genética , Criança , Hibridização Genômica Comparativa , Histona-Lisina N-Metiltransferase/genética , Humanos , Masculino , Proteínas de Membrana/genética , Fenótipo , Proteínas Repressoras/genética , Fatores de Elongação da Transcrição/genética
14.
Biotechnol Bioeng ; 104(3): 572-81, 2009 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-19593757

RESUMO

Protein elution curves in ion exchange chromatography (IEC) were simulated with a rate model. Three pure proteins and their mixture were used (alpha-lactalbumin, BSA, and conalbumin) under different operational conditions. The anionic matrix Q-Sepharose FF was used packed in a 1 mL column. A high protein concentration (37.5 mg/mL of total protein injected into the column) was used in order to extend the utility of the model. Mass transfer parameters were calculated using empiric correlations, where the axial dispersion was negligible (Pe > 300) and the mass transfer was controlled by the intraparticle diffusion (Bi > 10). The model assumes a modulator-eluite relationship were the equilibrium constant of the Langmuir isotherm was a function of salt concentration. Adsorption kinetic parameters were estimated from experimental data. The parameters for pure proteins were determined, and elution curves for changes in flow rate, ionic strength gradient, concentration, and sample size were predicted by the model. Then the kinetic parameters of the mixture were determined under the same operational conditions and some of the parameters had to be modified to take into account effects such as protein-protein interactions, competition, and displacement. Experimental elution curves obtained for changes in operational conditions such as flow rate and ionic strength gradient were simulated by the rate model for the protein mixture with a relative error in retention time of visible peaks <5%. IEC operational conditions and the peak fraction collection can be selected using a cost function of the production process which considers yield, purity, concentration, and process time that are obtained from simulations. Operational conditions that gave the minimum cost were selected. Simulations allows to diminish experimental time and cost.


Assuntos
Cromatografia por Troca Iônica/métodos , Proteínas/isolamento & purificação , Adsorção , Cinética , Modelos Teóricos , Concentração Osmolar , Sefarose
15.
Reprod Biomed Online ; 19(3): 415-7, 2009 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19778489

RESUMO

This report describes a case of mosaic Down syndrome due to an unusual karyotype in a patient conceived by assisted reproductive techniques and cryopreservation. The chromosomal complement consists of two different cell lines, one predominantly trisomic with a derivative chromosome due to a Robertsonian translocation (21;21) and another carrying a ring chromosome 21. The present work analyses the different mechanisms that could have led to mosaicism.


Assuntos
Cromossomos Humanos Par 21 , Criopreservação , Síndrome de Down/diagnóstico , Embrião de Mamíferos , Fertilização in vitro , Translocação Genética , Síndrome de Down/etiologia , Síndrome de Down/genética , Fertilização/fisiologia , Fertilização in vitro/efeitos adversos , Humanos , Masculino , Mosaicismo , Cromossomos em Anel , Translocação Genética/genética
16.
J Neurooncol ; 93(2): 175-82, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19099200

RESUMO

Astrocytic neoplasms are genetically heterogeneous; however a low frequency of genomic changes has been found in juvenile pilocytic astrocytoma (PA) in molecular studies. Concerning pleomorphic xanthoastrocytomas (PXA), recent studies have given heterogeneous results for chromosomal alterations. We studied the subtelomeric regions of 19 primary astrocytoma tumors. Results were near normality for the PA group with relative scarcity of chromosomal imbalances, except for the duplication of 3pter in 4/15 and deletion of 21qter in 5/15 of them. In contrast, a specific profile was observed in the 4 PXA tumoral samples. This involved 3pter, 14qter and 19pter duplication and 4qter, 6qter, 9qter, 13cen, 17pter, 18qter and 21qter deletion. Our results indicate that the chromosomal and genetic aberrations in PXAs differed from those typically associated with the diffusely infiltrating astrocytic and oligodendroglial gliomas. These genetic differences would likely contribute to the more favorable behavior of PXAs and may be helpful for molecular differential diagnosis of pediatric cerebral tumors.


Assuntos
Astrocitoma/genética , Instabilidade Cromossômica/genética , Glioma/genética , Telômero/genética , Astrocitoma/patologia , Neoplasias Encefálicas/genética , Criança , Aberrações Cromossômicas , DNA de Neoplasias/genética , DNA de Neoplasias/isolamento & purificação , Feminino , Glioma/patologia , Humanos , Perda de Heterozigosidade , Masculino , Oligodendroglioma/genética , Oligodendroglioma/patologia , Deleção de Sequência , Neoplasias da Medula Espinal/genética
17.
J Med Genet ; 45(7): 432-7, 2008 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-18413373

RESUMO

BACKGROUND: Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from 1 kb to several megabases. Array based comparative genomic hybridisation (array-CGH) allows detection of an increasing number of genomic alterations. METHODS: A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated for cryptic chromosomal imbalances by array-CGH. This array contains 6465 large-insert BAC/PAC clones, representing sequences uniformly distributed throughout the human genome. The results were confirmed by alternative techniques. RESULTS: Four pathogenic rearrangements were detected: two of them were novel, a deletion at 2q31.2 and a duplication at 8q12 band; the other two have been previously reported--a duplication of the Williams-Beuren region and a deletion of 3q29. By adding the subtelomeric alterations previously identified, a total rate of 18% of pathogenic rearrangements was found in the series. CONCLUSION: Based on our results, ZNF533 is the only gene contained in the overlapping region with other deletions at 2q31.2, and it is most probably the fourth zinc-finger gene implied in mental retardation. On the other hand, we propose that the CHD7 gene, associated with CHARGE syndrome by haploinsufficiency, causes a different phenotype by gain-of-dosage.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Deficiência Intelectual/genética , Dedos de Zinco/genética , Adolescente , Criança , Pré-Escolar , Cromossomos Humanos , DNA/química , DNA/genética , Feminino , Deleção de Genes , Dosagem de Genes , Rearranjo Gênico , Humanos , Masculino , Hibridização de Ácido Nucleico/métodos , Análise de Sequência com Séries de Oligonucleotídeos
19.
Clin Exp Rheumatol ; 26(4): 663-6, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18799102

RESUMO

OBJECTIVE: To investigate the prevalence of sexual dysfunction in female patients with fibromyalgia (FM), the impact of FM on sexual activity and the factors associated with sexual dysfunction in these patients. METHODS: Thirty-one consecutive women with FM were enrolled; two groups of 20 aged-matched healthy women and 26 patients with rheumatoid arthritis (RA) were used as controls. Demographic features were recorded in all patients. A cross-sectional analysis of pain (100-mm VAS scale), anxiety and depression (as determined by the STAI and Beck Depression Inventory scales, respectively) was performed. Sexual function was assessed by the Changes in Sexual Functioning Questionnaire (CSFQ). RESULTS: FM and RA patients showed a significantly higher rate of sexual dysfunction compared to healthy controls. Sexual dysfunction was more frequent among FM patients (97%) than in RA patients (84%) but without statistical differences. A univariate analysis showed that age (p=0.0002), marital (p=0.036) and work status (p=0.048), pain intensity (p=0.007), level of anxiety (p=0.002), level of depression (p=0.0005), were significantly associated with sexual dysfunction in FM. However, only the intensity of depression was associated with the sexual dysfunction in patients with FM in the multivariate analysis (p=0.012). CONCLUSIONS: Sexual function was very frequently and severely affected in patients with FM and this impairment appeared to be particularly associated with the degree of depression. The recognition of this dysfunction and its inclusion for the multidisciplinary management of FM may contribute to improve quality of life of these patients.


Assuntos
Depressão/complicações , Fibromialgia/complicações , Disfunções Sexuais Fisiológicas/complicações , Disfunções Sexuais Psicogênicas/complicações , Adulto , Ansiedade/complicações , Artrite Reumatoide/complicações , Artrite Reumatoide/psicologia , Escalas de Graduação Psiquiátrica Breve , Estudos de Casos e Controles , Feminino , Fibromialgia/psicologia , Humanos , Pessoa de Meia-Idade
20.
Sci Rep ; 8(1): 10524, 2018 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-30002382

RESUMO

Fragaria chiloensis is a strawberry endemic from Chile with attractive white-pink fruit, pleasant aroma and taste. However, this fruit has a limited post-harvest period due to fast softening. Several transcription factors (TFs) are involved in the regulation of fruit ripening, and members of the NAC family have been implicated in cell wall remodeling. FcNAC1 was isolated from F. chiloensis fruit, coding a protein of 332 amino acid residues and displaying a characteristic NAC domain at the N terminus. FcNAC1 protein showed nuclear localization. An increase in transcript level was observed during ripening. A sequence of 1488 bp of FcNAC1 promoter was obtained. In silico analysis identified cis elements able to respond to some hormones and Secondary wall NAC binding elements (SNBE), and responding to auxin and ABA. A structural model of FcNAC1 provided evidence for interaction with DNA sequences containing SNBE, while a dual luciferase assay confirmed the transcriptional activation by FcNAC1 of the promoter of FcPL, a gene involved in cell wall remodeling in F. chiloensis fruit. The results suggest the participation of FcNAC1 during ripening development of strawberry fruit, by regulating pectin metabolism during softening.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Fragaria/fisiologia , Proteínas de Plantas/metabolismo , Fatores de Transcrição/metabolismo , Ácido Abscísico/metabolismo , Parede Celular/metabolismo , Chile , Clonagem Molecular , DNA de Plantas/química , DNA de Plantas/metabolismo , Proteínas de Ligação a DNA/química , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/isolamento & purificação , Frutas/citologia , Frutas/metabolismo , Regulação da Expressão Gênica de Plantas/fisiologia , Ácidos Indolacéticos/metabolismo , Simulação de Dinâmica Molecular , Proteínas de Plantas/química , Proteínas de Plantas/genética , Proteínas de Plantas/isolamento & purificação , Regiões Promotoras Genéticas/genética , Domínios e Motivos de Interação entre Proteínas , Fatores de Transcrição/química , Fatores de Transcrição/genética , Fatores de Transcrição/isolamento & purificação
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