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1.
Int J Mol Sci ; 24(16)2023 Aug 19.
Artigo em Inglês | MEDLINE | ID: mdl-37629165

RESUMO

The pathogenesis of obesity-related-renal disease is unknown. Menopause can promote renal disease in obese women, but this interaction is unclear. In a previous study, we observed that obese male and female mice developed albuminuria, hyperfiltration, and glomerulomegaly, and these changes were more severe in those obese ovariectomized females. In this study, we also evaluated renal inflammation and lipotoxicity in that animal model. For six months, 43 males and 36 females C57BL6/J mice were randomized to standard diet (SD) or high fat diet (HFD). A group of female animals on SD or HFD was ovariectomized to simulate menopause. We evaluated cytokines: NF-κß p65, IL-1ß, MCP-1, TNF-α, total lipid content, lipid classes, and fatty acid profile in total lipid and individual lipid classes in renal tissue and urine. We found that obese males and females showed higher NF-kß p-65, TNF-α and MCP-1 in renal tissue, and obese females ovariectomized had higher IL-1ß and TNF-α compared with not-ovariectomized. Also, obese animals showed lower proinflammatory and higher anti-inflammatory fatty acids in kidney total lipids, while obese females ovariectomized had a more exacerbated pattern. In brief, obesity induces inflammation and an unbalanced lipidic profile in renal tissue. This pattern seems to be enhanced in obesity after menopause.


Assuntos
Nefropatias , Nefrite , Obesidade , Animais , Feminino , Masculino , Camundongos , Ácidos Graxos , Inflamação , Menopausa , Fatores Sexuais , Fator de Necrose Tumoral alfa , Distribuição Aleatória , Modelos Animais de Doenças
2.
Bol Med Hosp Infant Mex ; 80(Supl 1): 53-57, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37490692

RESUMO

BACKGROUND: As retinoblastoma (RB) is the most frequent primary intraocular malignant tumor in childhood, it should be the main pathology to rule out in pediatric patients with leukocoria. Persistence of fetal vasculature (PFV) is within the differential diagnosis of leukocoria, a vitreous disorder arising from a defect in the involution of the hyaloid vasculature in the embryonic stage, which affects normal ocular development and commonly produces associated microophthalmia. An early diagnosis and timely treatment are crucial for a better prognosis and life expectancy of the child. CASE REPORT: We present a case of retinoblastoma and coexisting with PFV: a 2-years-and 11-months-old male with no red reflex, and vasculature and yellowish-white membrane behind the lens of the right eye. B-mode ultrasound with disorganization of the vitreous cavity with high reflectivity echoes suggestive of calcification. On examination we found an enlarged eyeball, rubeosis iridis, posterior vasculature, intraocular pressure 28 mmHg. Computed tomography with heterogeneous intraocular mass with hyperdense regions. With a diagnosis of probable retinoblastoma, enucleation was performed. Histopathology reported moderately differentiated retinoblastoma coexisting with PFV. CONCLUSIONS: The finding of these two diagnoses in the same eye is very rare due to the different pathophysiology.


INTRODUCCIÓN: El retinoblastoma (RB) es el tumor maligno primario intraocular más frecuente en la infancia y debe ser la principal patología a descartar en los pacientes pediátricos con leucocoria. La persistencia de la vasculatura fetal (PVF) está dentro del diagnóstico diferencial de la leucocoria, un trastorno del vítreo que surge de un defecto en la involución de la vasculatura hialoidea en la etapa embrionaria que afecta al desarrollo ocular normal y comúnmente produce microoftalmia asociada. El diagnóstico temprano y tratamiento oportuno son cruciales para un buen pronóstico y mejor esperanza de vida del infante. CASO CLÍNICO: Presentamos un caso de coexistencia de retinoblastoma y PVF: paciente de sexo masculino de 2 años y 11 meses sin reflejo rojo y vasculatura y membrana blanco-amarillenta detrás del cristalino en el ojo derecho. La ecografía en modo B con desorganización de la cavidad vítrea con ecos de alta reflectividad sugestivos de calcificación. A la exploración se observó globo ocular agrandado, rubeosis iridis, vasculatura posterior, presión intraocular 28 mmHg. Tomografía computarizada con masa intraocular heterogénea con regiones hiperdensas. Con diagnóstico de probable retinoblastoma, se realizó la enucleación. La histopatología informó el hallazgo de retinoblastoma moderadamente diferenciado coexistente con PVF. CONCLUSIONES: El hallazgo de estos dos diagnósticos en un mismo ojo es muy poco frecuente debido a la diferente fisiopatología.


Assuntos
Calcinose , Vítreo Primário Hiperplásico Persistente , Neoplasias da Retina , Retinoblastoma , Humanos , Masculino , Criança , Lactente , Retinoblastoma/diagnóstico , Vítreo Primário Hiperplásico Persistente/diagnóstico , Vítreo Primário Hiperplásico Persistente/complicações , Vítreo Primário Hiperplásico Persistente/patologia , Calcinose/complicações , Tomografia Computadorizada por Raios X , Neoplasias da Retina/diagnóstico
3.
Environ Sci Pollut Res Int ; 30(18): 54095-54105, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36869947

RESUMO

During coal mining activities, many compounds are released into the environment that can negatively impact human health. Particulate matter, polycyclic aromatic hydrocarbons (PAHs), metals, and oxides are part of the complex mixture that can affect nearby populations. Therefore, we designed this study to evaluate the potential cytotoxic and genotoxic effects in individuals chronically exposed to coal residues from peripheral blood lymphocytes and buccal cells. We recruited 150 individuals who lived more than 20 years in La Loma-Colombia and 120 control individuals from the city of Barranquilla without a history of exposure to coal mining. In the cytokinesis-block micronucleus cytome (CBMN-Cyt) assay, significant differences in the frequency of micronucleus (MN), nucleoplasmic bridge (NPB), nuclear bud (NBUD), and apoptotic cells (APOP) were observed between the two groups. In the buccal micronucleus cytome (BM-Cyt) assay, a significant formation of NBUD, karyorrhexis (KRX), karyolysis (KRL), condensed chromatin (CC), and binucleated (BN) cells was observed in the exposed group. Considering the characteristics of the study group, a significant correlation for CBMN-Cyt was found between NBUD and vitamin consumption, between MN or APOP and meat consumption, and between MN and age. Moreover, a significant correlation for BM-Cyt was found between KRL and vitamin consumption or age, and BN versus alcohol consumption. Using Raman spectroscopy, a significant increase in the concentration of DNA/RNA bases, creatinine, polysaccharides, and fatty acids was detected in the urine of individuals exposed to coal mining compared to the control group. These results contribute to the discussion on the effects of coal mining on nearby populations and the development of diseases due to chronic exposure to these residues.


Assuntos
Antineoplásicos , Minas de Carvão , Exposição Ocupacional , Humanos , Exposição Ocupacional/análise , Mucosa Bucal , Testes para Micronúcleos/métodos , Dano ao DNA , Linfócitos , Antineoplásicos/farmacologia
4.
Bol. méd. Hosp. Infant. Méx ; 80(supl.1): 53-57, 2023. graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1513766

RESUMO

Resumen Introducción: El retinoblastoma (RB) es el tumor maligno primario intraocular más frecuente en la infancia y debe ser la principal patología a descartar en los pacientes pediátricos con leucocoria. La persistencia de la vasculatura fetal (PVF) está dentro del diagnóstico diferencial de la leucocoria, un trastorno del vítreo que surge de un defecto en la involución de la vasculatura hialoidea en la etapa embrionaria que afecta al desarrollo ocular normal y comúnmente produce microoftalmia asociada. El diagnóstico temprano y tratamiento oportuno son cruciales para un buen pronóstico y mejor esperanza de vida del infante. Caso clínico: Presentamos un caso de coexistencia de retinoblastoma y PVF: paciente de sexo masculino de 2 años y 11 meses sin reflejo rojo y vasculatura y membrana blanco-amarillenta detrás del cristalino en el ojo derecho. La ecografía en modo B con desorganización de la cavidad vítrea con ecos de alta reflectividad sugestivos de calcificación. A la exploración se observó globo ocular agrandado, rubeosis iridis, vasculatura posterior, presión intraocular 28 mmHg. Tomografía computarizada con masa intraocular heterogénea con regiones hiperdensas. Con diagnóstico de probable retinoblastoma, se realizó la enucleación. La histopatología informó el hallazgo de retinoblastoma moderadamente diferenciado coexistente con PVF. Conclusiones: El hallazgo de estos dos diagnósticos en un mismo ojo es muy poco frecuente debido a la diferente fisiopatología.


Abstract Background: As retinoblastoma (RB) is the most frequent primary intraocular malignant tumor in childhood, it should be the main pathology to rule out in pediatric patients with leukocoria. Persistence of fetal vasculature (PFV) is within the differential diagnosis of leukocoria, a vitreous disorder arising from a defect in the involution of the hyaloid vasculature in the embryonic stage, which affects normal ocular development and commonly produces associated microophthalmia. An early diagnosis and timely treatment are crucial for a better prognosis and life expectancy of the child. Case report: We present a case of retinoblastoma and coexisting with PFV: a 2-years-and 11-months-old male with no red reflex, and vasculature and yellowish-white membrane behind the lens of the right eye. B-mode ultrasound with disorganization of the vitreous cavity with high reflectivity echoes suggestive of calcification. On examination we found an enlarged eyeball, rubeosis iridis, posterior vasculature, intraocular pressure 28 mmHg. Computed tomography with heterogeneous intraocular mass with hyperdense regions. With a diagnosis of probable retinoblastoma, enucleation was performed. Histopathology reported moderately differentiated retinoblastoma coexisting with PFV. Conclusions: The finding of these two diagnoses in the same eye is very rare due to the different pathophysiology.

5.
Turk Thorac J ; 23(6): 376-382, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-35957569

RESUMO

OBJECTIVE: Respiratory disease is the major cause of morbidity and mortality in patients with alpha-1 antitrypsin deficiency, mainly in homozygous PI*ZZ individuals. However, this association is uncertain in subjects with other deficiency genotypes. The objective of this study was to assess, in the context of alpha-1 antitrypsin deficiency, the existence of further risk factors that have been associated with respiratory diseases. MATERIAL AND METHODS: Lung function was assessed by spirometry in a sample of 1334 patients with a known genotype for the SERPINA1 gene whose serum alpha-1 antitrypsin levels had been previously determined. Patients with a normal genotype (PI*MM) were compared to 389 patients carrying a deficiency allele. RESULTS: Statistically significant associations were detected between (i) PI*ZZ genotype and abnormal FEV1 values (χ2 = 26.45; P <.0002), FEV1/FVC (χ2 = 14.8; P < .02) or forced mid-expiratory flow 25%-75% (χ2 =22.66; P < .0009); (ii) chronic obstructive pulmonary disease and PI*ZZ odds ratio: 26.5; 95% CI: (2.6-265.9); P <.005 and or PI*SS genotype odds ratio: 9; 95% CI: (2-40.1); P < .004; (iii) prevalence of COPD in PI*MZ subjects and smoking habit (P < .01), low body weight (P < .01) or older age (P < .0001). CONCLUSION: The PI*ZZ and PI*SS genotypes seem to be associated with the prevalence of chronic obstructive pulmonary disease. Tobacco use, low body weight, and older age are risk factors that increase the probability of prevalence of chronic obstructive pulmonary disease by up to 70% in PI*MZ individuals.

7.
Plants (Basel) ; 10(11)2021 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-34834762

RESUMO

When dealing with plant roots, a multiscale description of the functional root structure is needed. Since the beginning of 21st century, new devices such as laser confocal microscopes have been accessible for coarse root structure measurements, including three-dimensional (3D) reconstruction. Most researchers are familiar with using simple 2D geometry visualization that does not allow quantitative determination of key morphological features from an organ-like perspective. We provide here a detailed description of the quantitative methods available for 3D analysis of root features at single-cell resolution, including root asymmetry, lateral root analysis, cell size and nuclear organization, cell-cycle kinetics, and chromatin structure analysis. Quantitative maps of the root apical meristem (RAM) are shown for different species, including Arabidopsis thaliana (L.), Heynh, Nicotiana tabacum L., Medicago sativa L., and Setaria italica (L.) P. Beauv. The 3D analysis of the RAM in these species showed divergence in chromatin organization and cell volume distribution that might be used to study root zonation for each root tissue. Detailed protocols and possible pitfalls in the usage of the marker lines are discussed. Therefore, researchers who need to improve their quantitative root biology portfolio can use them as a reference.

8.
Med Clin (Barc) ; 151(11): 425-430, 2018 12 14.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29499902

RESUMO

BACKGROUND AND OBJECTIVES: Evaluate the relationship between the presence of polymorphisms in genes involved in the pharmacodynamics of irinotecan (UGT1A, SLCO1B1, ABCB1 and ABCC2) and the safety of irinotecan in the treatment of metastatic colorectal cancer (mCRC). PATIENTS AND METHODS: Prospective observational, single-centre study of 30 months duration, which included patients diagnosed with mCRC treated with FOLFIRI was carried out. Toxicity was evaluated in each treatment cycle according to the Common Terminology Criteria for Adverse Events (CTCAE) v.4.0 NCI. Genomic DNA was obtained with a peripheral blood sample from an extraction method based on alkaline lysis. Genetic characterisation was performed using the LigthCycler®480 platform and allele-specific HybProbe® fluorescent probes. Analysed polymorphisms were: UGT1A1*28, UGT1A1*60, UGT1A7*1,*2,*3,*4, UGT1A7*12, UGT1A9*22, SLCO1B1 (rs11045879), ABCC2 (rs717620) and ABCB1 (rs1045642). RESULTS: Thirty-four patients were included (73.5% were male, mean age 59.9 years [27-81]) in the study. Polymorphisms rs8175347, rs17868323, rs3832043, rs11692021 and rs7577677 were associated with a higher incidence of adverse effects. Furthermore, it was observed that those patients with wild-type in UGT family genes analysed have lower rates of toxicity associated with irinotecan treatment than those with certain mutated allele (P=.010). CONCLUSIONS: These results suggest that the presence of certain polymorphisms in the UGT1A family of genes is related to the development of toxicity during treatment with irinotecan.


Assuntos
Neoplasias Colorretais/tratamento farmacológico , Neoplasias Colorretais/genética , Irinotecano/efeitos adversos , Polimorfismo Genético , Subfamília B de Transportador de Cassetes de Ligação de ATP/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Neoplasias Colorretais/patologia , Feminino , Glucuronosiltransferase/genética , Humanos , Transportador 1 de Ânion Orgânico Específico do Fígado/genética , Masculino , Pessoa de Meia-Idade , Proteína 2 Associada à Farmacorresistência Múltipla , Proteínas Associadas à Resistência a Múltiplos Medicamentos/genética , Metástase Neoplásica , Estudos Prospectivos , UDP-Glucuronosiltransferase 1A
9.
J Oncol Pharm Pract ; 23(5): 396-398, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27122156

RESUMO

Colorectal cancer is the second most common cancer in Europe. Most antineoplastic regimens in first-line treatment involve 5-fluorouracil or oral prodrug capecitabine, combined with other antineoplastic agents such as oxaliplatin or irinotecan. It is well known that 5-fluorouracil and capecitabine are agents that can be toxic in cases of decreased dihydropyrimidine dehydrogenase activity because this enzyme is the main limiting factor in the metabolism of both agents. In this paper, we describe the case of a patient who developed severe toxicity to 5-fluouracil and who had a mutation in the gene encoding the enzyme dihydropyrimidine dehydrogenase.


Assuntos
Antimetabólitos Antineoplásicos/efeitos adversos , Neoplasias do Colo/tratamento farmacológico , Di-Hidrouracila Desidrogenase (NADP)/genética , Fluoruracila/efeitos adversos , Idoso , Antineoplásicos/uso terapêutico , Neoplasias do Colo/genética , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/genética , Feminino , Humanos , Mutação , Polimorfismo de Nucleotídeo Único
10.
Plant J ; 89(5): 870-884, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28008672

RESUMO

The characterization of mutants with altered leaf shape and pigmentation has previously allowed the identification of nuclear genes that encode plastid-localized proteins that perform essential functions in leaf growth and development. A large-scale screen previously allowed us to isolate ethyl methanesulfonate-induced mutants with small rosettes and pale green leaves with prominent marginal teeth, which were assigned to a phenotypic class that we dubbed Angulata. The molecular characterization of the 12 genes assigned to this phenotypic class should help us to advance our understanding of the still poorly understood relationship between chloroplast biogenesis and leaf morphogenesis. In this article, we report the phenotypic and molecular characterization of the angulata7-1 (anu7-1) mutant of Arabidopsis thaliana, which we found to be a hypomorphic allele of the EMB2737 gene, which was previously known only for its embryonic-lethal mutations. ANU7 encodes a plant-specific protein that contains a domain similar to the central cysteine-rich domain of DnaJ proteins. The observed genetic interaction of anu7-1 with a loss-of-function allele of GENOMES UNCOUPLED1 suggests that the anu7-1 mutation triggers a retrograde signal that leads to changes in the expression of many genes that normally function in the chloroplasts. Many such genes are expressed at higher levels in anu7-1 rosettes, with a significant overrepresentation of those required for the expression of plastid genome genes. Like in other mutants with altered expression of plastid-encoded genes, we found that anu7-1 exhibits defects in the arrangement of thylakoidal membranes, which appear locally unappressed.


Assuntos
Proteínas de Arabidopsis/metabolismo , Arabidopsis/metabolismo , Cloroplastos/metabolismo , Folhas de Planta/metabolismo , Arabidopsis/genética , Proteínas de Arabidopsis/genética , Regulação da Expressão Gênica de Plantas/genética , Regulação da Expressão Gênica de Plantas/fisiologia , Proteínas de Choque Térmico HSP40/genética , Proteínas de Choque Térmico HSP40/metabolismo , Folhas de Planta/genética , Tilacoides/metabolismo
11.
Front Plant Sci ; 7: 1782, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27965690

RESUMO

Selection and breeding of rootstocks that can tolerate low K supply may increase crop productivity in low fertility soils and reduce fertilizer application. However, the underlying physiological traits are still largely unknown. In this study, 16 contrasting recombinant inbred lines (RILs) derived from a cross between domestic and wild tomato species (Solanum lycopersicum × Solanum pimpinellifolium) have been used to analyse traits related to the rootstock-mediated induction of low (L, low shoot fresh weight) or high (H, high shoot fresh weight) vigor to a commercial F1 hybrid grown under control (6 mM, c) and low-K (1 mM, k). Based on hormonal and ionomic composition in the root xylem sap and the leaf nutritional status after long-term (7 weeks) exposure low-K supply, a model can be proposed to explain the rootstocks effects on shoot performance with the ethylene precursor aminocyclopropane-1-carboxylic acid (ACC) playing a pivotal negative role. The concentration of this hormone was higher in the low-vigor Lc and Lk rootstocks under both conditions, increased in the sensitive HcLk plants under low-K while it was reduced in the high-vigor Hk ones. Low ACC levels would promote the transport of K vs. Na in the vigorous Hk grafted plants. Along with K, Ca, and S, micronutrient uptake and transport were also activated in the tolerant Hk combinations under low-K. Additionally, an interconversion of trans-zeatin into trans-zeatin riboside would contribute to decrease ACC in the tolerant LcHk plants. The high vigor induced by the Hk plants can also be explained by an interaction of ACC with other hormones (cytokinins and salicylic, abscisic and jasmonic acids). Therefore, Hk rootstocks convert an elite tomato F1 cultivar into a (micro) nutrient-efficient phenotype, improving growth under reduced K fertilization.

12.
Plant Physiol ; 171(1): 483-93, 2016 05.
Artigo em Inglês | MEDLINE | ID: mdl-26969721

RESUMO

TOPOISOMERASE1 (TOP1), which releases DNA torsional stress generated during replication through its DNA relaxation activity, plays vital roles in animal and plant development. In Arabidopsis (Arabidopsis thaliana), TOP1 is encoded by two paralogous genes (TOP1α and TOP1ß), of which TOP1α displays specific developmental functions that are critical for the maintenance of shoot and floral stem cells. Here, we show that maintenance of two different populations of root stem cells is also dependent on TOP1α-specific developmental functions, which are exerted through two distinct novel mechanisms. In the proximal root meristem, the DNA relaxation activity of TOP1α is critical to ensure genome integrity and survival of stele stem cells (SSCs). Loss of TOP1α function triggers DNA double-strand breaks in S-phase SSCs and results in their death, which can be partially reversed by the replenishment of SSCs mediated by ETHYLENE RESPONSE FACTOR115 In the quiescent center and root cap meristem, TOP1α is epistatic to RETINOBLASTOMA-RELATED (RBR) in the maintenance of undifferentiated state and the number of columella stem cells (CSCs). Loss of TOP1α function in either wild-type or RBR RNAi plants leads to differentiation of CSCs, whereas overexpression of TOP1α mimics and further enhances the effect of RBR reduction that increases the number of CSCs Taken together, these findings provide important mechanistic insights into understanding stem cell maintenance in plants.


Assuntos
Proteínas de Arabidopsis/metabolismo , Arabidopsis/citologia , DNA Topoisomerases Tipo I/metabolismo , Células Vegetais/fisiologia , Arabidopsis/genética , Arabidopsis/metabolismo , Proteínas de Arabidopsis/genética , Diferenciação Celular , Sobrevivência Celular/genética , DNA Topoisomerases Tipo I/genética , Regulação da Expressão Gênica de Plantas , Genoma de Planta , Meristema/genética , Raízes de Plantas/citologia , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/metabolismo , Células-Tronco/citologia , Células-Tronco/fisiologia , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
13.
Eur J Hosp Pharm ; 23(3): 131-133, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-31156833

RESUMO

INTRODUCTION: The advent of Luer-type needleless venous access catheters has been accompanied by a growing number of catheter-related bloodstream infections. Our main objective was to compare rates of colonisation and phlebitis between our standard of care and the new passive disinfection system, using a Luer SwabCap bearing a sponge impregnated with 70% isopropyl alcohol. METHODS: We performed a prospective experimental study involving patients attending our day hospital oncology unit, with central venous (CV) or peripheral venous (PV) access lines with needleless connectors for antineoplastic treatment delivery. We assessed the colonisation rate by culture of the inside of the hubs (qualitative culture) and also assessed the possible appearance of phlebitis and the extra cost of introducing the new system in our oncology day hospital; nurse satisfaction was evaluated by a questionnaire. The effectiveness of the isopropyl alcohol disinfection cap was evaluated by analysing rates of catheter colonisation and phlebitis between two groups: group 1 comprised of patients receiving the standard disinfection method and group 2 comprised of patients receiving SwabCaps on any venous access connectors. Samples were taken from the catheter lumen through a sterile swab seeded in Luria Bertani-rich broth and cultivated for at least 48 h at 37°C. We also assessed the extra cost of introducing the new system in our oncology day hospital, and nurse satisfaction was evaluated by a questionnaire. RESULTS: 29 patients were included (13 in group 1 and 16 in group 2). In group 1, 56% of the samples were taken from CV access connectors versus 40% in group 2. Bacterial growth was detected in 43.7% of group 1 samples versus 0% in group 2 (p=0.006). No differences in the degree of contamination were found between CV and PV access connectors. No cases of phlebitis were observed. Nurse satisfaction with the new system was 9.2 out of a maximum score of 10. The incremental cost of incorporating the new system in our oncology unit was estimated at €1.87 836. CONCLUSION: Passive disinfection systems help reduce colonisation of venous access catheters without requiring large economic investment or special training of health personnel.

14.
Cancer Chemother Pharmacol ; 75(5): 1095-8, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25804843

RESUMO

PURPOSE: Translation of pharmacogenetic findings from the research laboratory to the clinical practice demands simple and efficient procedures. In this sense, we evaluated the suitability of a modified protocol for genomic DNA extraction based on alkaline lysis of cells. METHODS: Dried blood samples were obtained from 48 patients diagnosed with colorectal cancer. A total of 11 mutations in the dihydropyrimidine dehydrogenase gene and related to 5-fluorouracil toxicity were searched by amplicon sequencing and real-time PCR with fluorescent probes. RESULTS: Genomic DNA extracted with the alkaline lysis method, both from dried blood samples and buccal swabs, fulfilled the quality requirements of the two genotyping methods assayed, which yielded 100 % concordant results for 11 genetic variants with relevance to cancer chemotherapy. CONCLUSIONS: The assessed protocol has shown to be a very fast and economical approach to perform genetic analyses in the clinical laboratory for pharmacological purposes.


Assuntos
Neoplasias Colorretais/sangue , Neoplasias Colorretais/genética , DNA de Neoplasias/isolamento & purificação , Álcalis/química , Neoplasias Colorretais/tratamento farmacológico , DNA de Neoplasias/sangue , DNA de Neoplasias/genética , Di-Hidrouracila Desidrogenase (NADP)/genética , Fluoruracila/toxicidade , Técnicas de Genotipagem , Humanos , Mutação , Farmacogenética , Estudos Prospectivos , Reprodutibilidade dos Testes
15.
Physiol Plant ; 150(3): 446-62, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24117983

RESUMO

The rooting of stem cuttings is a common vegetative propagation practice in many ornamental species. A detailed analysis of the morphological changes occurring in the basal region of cultivated carnation cuttings during the early stages of adventitious rooting was carried out and the physiological modifications induced by exogenous auxin application were studied. To this end, the endogenous concentrations of five major classes of plant hormones [auxin, cytokinin (CK), abscisic acid, salicylic acid (SA) and jasmonic acid] and the ethylene precursor 1-aminocyclopropane-1-carboxylic acid were analyzed at the base of stem cuttings and at different stages of adventitious root formation. We found that the stimulus triggering the initiation of adventitious root formation occurred during the first hours after their excision from the donor plant, due to the breakdown of the vascular continuum that induces auxin accumulation near the wounding. Although this stimulus was independent of exogenously applied auxin, it was observed that the auxin treatment accelerated cell division in the cambium and increased the sucrolytic activities at the base of the stem, both of which contributed to the establishment of the new root primordia at the stem base. Further, several genes involved in auxin transport were upregulated in the stem base either with or without auxin application, while endogenous CK and SA concentrations were specially affected by exogenous auxin application. Taken together our results indicate significant crosstalk between auxin levels, stress hormone homeostasis and sugar availability in the base of the stem cuttings in carnation during the initial steps of adventitious rooting.


Assuntos
Metabolismo dos Carboidratos , Dianthus/metabolismo , Reguladores de Crescimento de Plantas/metabolismo , Raízes de Plantas/metabolismo , Caules de Planta/metabolismo , Ácido Abscísico/metabolismo , Aminoácidos Cíclicos/metabolismo , Citocininas/metabolismo , Dianthus/efeitos dos fármacos , Dianthus/genética , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Regulação da Expressão Gênica de Plantas/efeitos dos fármacos , Ácidos Indolacéticos/metabolismo , Ácidos Indolacéticos/farmacologia , Isopenteniladenosina/análogos & derivados , Isopenteniladenosina/metabolismo , Microscopia Eletrônica de Varredura , Reguladores de Crescimento de Plantas/farmacologia , Proteínas de Plantas/genética , Raízes de Plantas/crescimento & desenvolvimento , Raízes de Plantas/ultraestrutura , Caules de Planta/genética , Caules de Planta/ultraestrutura , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Salicilatos/metabolismo , Técnicas de Cultura de Tecidos
16.
Plant Cell ; 25(11): 4469-78, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24285791

RESUMO

Maintenance of mitotic cell clusters such as meristematic cells depends on their capacity to maintain the balance between cell division and cell differentiation necessary to control organ growth. In the Arabidopsis thaliana root meristem, the antagonistic interaction of two hormones, auxin and cytokinin, regulates this balance by positioning the transition zone, where mitotically active cells lose their capacity to divide and initiate their differentiation programs. In animals, a major regulator of both cell division and cell differentiation is the tumor suppressor protein RETINOBLASTOMA. Here, we show that similarly to its homolog in animal systems, the plant RETINOBLASTOMA-RELATED (RBR) protein regulates the differentiation of meristematic cells at the transition zone by allowing mRNA accumulation of AUXIN RESPONSE FACTOR19 (ARF19), a transcription factor involved in cell differentiation. We show that both RBR and the cytokinin-dependent transcription factor ARABIDOPSIS RESPONSE REGULATOR12 are required to activate the transcription of ARF19, which is involved in promoting cell differentiation and thus root growth.


Assuntos
Proteínas de Arabidopsis/metabolismo , Arabidopsis/metabolismo , Citocininas/metabolismo , Meristema/citologia , Raízes de Plantas/metabolismo , Arabidopsis/citologia , Arabidopsis/genética , Proteínas de Arabidopsis/genética , Diferenciação Celular , Regulação da Expressão Gênica de Plantas , Histidina Quinase , Meristema/genética , Meristema/metabolismo , Raízes de Plantas/citologia , Plantas Geneticamente Modificadas , Proteínas Quinases/genética , Proteínas Quinases/metabolismo , Transdução de Sinais , Fatores de Transcrição/genética , Fatores de Transcrição/metabolismo
17.
Cir Cir ; 77(3): 167-71, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19671267

RESUMO

BACKGROUND: Unilateral tucking of the inferior rectus muscle is a therapeutic alternative in the surgical treatment of dissociated vertical deviation (DVD). It is usually performed in asymmetric DVD associated with monocular low vision. Adduction is a secondary action of the inferior rectus muscle. If excessive reinforcement is done, the horizontal position can be modified toward esotropia. We undertook this study to evaluate the horizontal position modification after unilateral tucking of the inferior rectus muscle. METHODS: Unilateral tucking of the inferior rectus muscle was done in 10 patients with spontaneous DVD, without horizontal surgery and poor monocular vision. Follow-up was done for 6 months. Horizontal deviation in prism diopters (PD) was measured. For statistical analysis, Mann-Whitney U test was used with a significance level of 0.05. RESULTS: Preoperatively, horizontal deviation was between 20 PD of exotropia and 10 PD of esotropia (+/-10.34 SD). Postoperatively, horizontal deviation was between 12 PD of exotropia and 15 PD of esotropia (+/-7.82 SD). Horizontal deviation was modified between 2 and 15 PD towards esotropia, on average 9.4 PD (+/-3.70 SD) ( p = 0.03). CONCLUSIONS: Monocular inferior rectus muscle reinforcement modifies the horizontal position on average 9.4 PD towards esotropia.


Assuntos
Esotropia/cirurgia , Exotropia/cirurgia , Músculos Oculomotores/cirurgia , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Oftalmológicos/métodos , Estudos Prospectivos , Adulto Jovem
18.
Cir. & cir ; 77(3): 167-171, mayo-jun. 2009. tab
Artigo em Espanhol | LILACS | ID: lil-566504

RESUMO

Introducción: La cirugía de reforzamiento unilateral del recto inferior es una alternativa terapéutica en el tratamiento quirúrgico de la desviación vertical disociada (DVD), indicada en casos de DVD muy asimétrica con mala visión monocular. Dado que el músculo recto inferior tiene como acción secundaria la aducción, al realizar un reforzamiento amplio de éste puede modificarse hacia adentro la posición horizontal. El objetivo del presente estudio fue conocer la modificación de la posición horizontal después del plegamiento monocular en U del músculo recto inferior del ojo con mala visión. Material y métodos: Se realizó plegamiento del recto inferior monocular en 10 pacientes con DVD espontánea, sin cirugía horizontal y mala visión monocular; se llevó a cabo seguimiento mínimo de seis meses. Se cuantificó la magnitud de la desviación horizontal en dioptrías prismáticas (dp) en el pre y posoperatorio. El análisis estadístico se realizó con U de Mann- Whitney, con nivel de significancia de 0.05. Resultados: La desviación preoperatoria osciló entre 20 dp de exotropía y 10 dp de endotropía (± 10.34); en el posoperatorio, de 12 dp de exotropía a 15 dp de endotropía (± 7.82). La posición horizontal se modificó entre 2 y 15 dp hacia adentro, con una media de 9.4 ± 3.70 dp (p = 0.03). Conclusiones: El reforzamiento monocular del recto inferior modifica 9.4 dp en promedio la posición horizontal hacia adentro.(aU)


BACKGROUND: Unilateral tucking of the inferior rectus muscle is a therapeutic alternative in the surgical treatment of dissociated vertical deviation (DVD). It is usually performed in asymmetric DVD associated with monocular low vision. Adduction is a secondary action of the inferior rectus muscle. If excessive reinforcement is done, the horizontal position can be modified toward esotropia. We undertook this study to evaluate the horizontal position modification after unilateral tucking of the inferior rectus muscle. METHODS: Unilateral tucking of the inferior rectus muscle was done in 10 patients with spontaneous DVD, without horizontal surgery and poor monocular vision. Follow-up was done for 6 months. Horizontal deviation in prism diopters (PD) was measured. For statistical analysis, Mann-Whitney U test was used with a significance level of 0.05. RESULTS: Preoperatively, horizontal deviation was between 20 PD of exotropia and 10 PD of esotropia (+/-10.34 SD). Postoperatively, horizontal deviation was between 12 PD of exotropia and 15 PD of esotropia (+/-7.82 SD). Horizontal deviation was modified between 2 and 15 PD towards esotropia, on average 9.4 PD (+/-3.70 SD) ( p = 0.03). CONCLUSIONS: Monocular inferior rectus muscle reinforcement modifies the horizontal position on average 9.4 PD towards esotropia.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Criança , Adolescente , Esotropia/cirurgia , Exotropia/cirurgia , Músculos Oculomotores/cirurgia , Estudos Prospectivos , Procedimentos Cirúrgicos Oftalmológicos/métodos , Adulto Jovem
19.
Cir Cir ; 77(1): 9-12, 2009.
Artigo em Espanhol | MEDLINE | ID: mdl-19228464

RESUMO

OBJECTIVE: We undertook this study to evaluate the results of the treatment with botulinum toxin in patients with esotropia and psychomotor delay. METHODS: Patients with esotropia and delayed psychomotor development, in rehabilitation therapy and without previous surgery were included. A complete ophthalmological and strabismological exploration was performed including cycloplegic refraction with atropine 1%. Botulinum toxin was applied under sedation in both internal recti. Results were evaluated 1 week, 1 month, 3 and 6 months and after 1 year of application. The reinjection was decided if a 25 DP esotropia or greater was obtained before 3 months of the first application. A good result was considered in patients who had 10 DP of deviation and variability <10 DP. RESULTS: Thirty two patients were included. There were 14 were women and 18 men with an age range from 5 months to 5 years (average 16.8 months). Eighteen patients had variability in the angle of deviation from 20 to 45 DP of esotropia and 14 without variability with an average of 39.12 DP. Thirteen patients were reinjected. A good result was obtained in 10 patients, fair in 17 patients and poor in 5 patients due to persistence of variability in four cases and 15 DP hypertropia in one. CONCLUSIONS: Application of botulinum toxin is a therapeutic alternative in patients with esotropia and psychomotor delay.


Assuntos
Toxinas Botulínicas/uso terapêutico , Esotropia/tratamento farmacológico , Transtornos Psicomotores/tratamento farmacológico , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Estudos Prospectivos
20.
Cir. & cir ; 77(1): 9-12, ene.-feb. 2009. tab
Artigo em Espanhol | LILACS | ID: lil-566696

RESUMO

Objetivo: Evaluar los resultados del tratamiento con toxina botulínica en pacientes con endotropía y retraso psicomotor. Material y métodos: Se incluyeron pacientes con endotropía y retraso del desarrollo psicomotor menores de siete años, en tratamiento de rehabilitación y sin cirugía previa. Se les realizó exploración oftalmológica y estrabológica completa incluyendo cicloplejía con atropina a 1 %. Se aplicó toxina botulínica en ambos rectos internos bajo sedación y se evaluaron los resultados a la semana, al mes, a los tres y seis meses y al año. Se decidió reinyección si se obtuvo endotropía residual mayor de 25 dioptrías (dp) antes de los tres meses de la primera aplicación. Se consideró un buen resultado cuando hubo desviación dentro de las 10 dp y variabilidad menor o igual a 10 dp. Resultados: Se incluyeron 32 pacientes, 14 mujeres y 18 hombres. El rango de edad era de cinco meses a cinco años, con un promedio de 16.8 meses. Se encontraron 18 pacientes con variabilidad en el ángulo de desviación de 20 a 45 dp de endotropía y 14 sin variabilidad, con un promedio de 39.12 dp. Se reinyectaron 13 pacientes. En 10 pacientes hubo buen resultado, en 17 regular y en cinco malo. Los malos resultados fueron por persistencia de variabilidad importante en cuatro pacientes y en uno hipertropía mayor de 15 dp.Conclusiones: La aplicación de toxina botulínica es una alternativa terapéutica en pacientes con endotropía y retraso psicomotor.


OBJECTIVE: We undertook this study to evaluate the results of the treatment with botulinum toxin in patients with esotropia and psychomotor delay. METHODS: Patients with esotropia and delayed psychomotor development, in rehabilitation therapy and without previous surgery were included. A complete ophthalmological and strabismological exploration was performed including cycloplegic refraction with atropine 1%. Botulinum toxin was applied under sedation in both internal recti. Results were evaluated 1 week, 1 month, 3 and 6 months and after 1 year of application. The reinjection was decided if a 25 DP esotropia or greater was obtained before 3 months of the first application. A good result was considered in patients who had 10 DP of deviation and variability <10 DP. RESULTS: Thirty two patients were included. There were 14 were women and 18 men with an age range from 5 months to 5 years (average 16.8 months). Eighteen patients had variability in the angle of deviation from 20 to 45 DP of esotropia and 14 without variability with an average of 39.12 DP. Thirteen patients were reinjected. A good result was obtained in 10 patients, fair in 17 patients and poor in 5 patients due to persistence of variability in four cases and 15 DP hypertropia in one. CONCLUSIONS: Application of botulinum toxin is a therapeutic alternative in patients with esotropia and psychomotor delay.


Assuntos
Humanos , Masculino , Feminino , Pré-Escolar , Lactente , Esotropia/tratamento farmacológico , Toxinas Botulínicas/uso terapêutico , Transtornos Psicomotores/tratamento farmacológico , Estudos Prospectivos
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