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1.
Medicina (Kaunas) ; 60(5)2024 May 18.
Artículo en Inglés | MEDLINE | ID: mdl-38793013

RESUMEN

(1) Background and objectives: Maturity-onset diabetes of the young (MODY) is a group of diabetes caused by gene defects related to insulin secretion. MODY1, MODY2, and MODY3 are the most common and account for approximately 80% of all cases. Other types are relatively rare. This study describes the clinical, analytical, and genetic characteristics of a patient with MODY10, and diabetic nephropathy, retinopathy, and functional hypogonadism diagnosis. (2) Materials and methods: A clinical case was analyzed and whole exome generation sequencing (WES) was used to detect mutations related to a monogenic variant. (3) Results: A seventeen-year-old male patient, who was diagnosed with apparent type 1 diabetes at the age of eight was started with insulin therapy. He came to the emergency room with glycemic decompensation, facial, and lower limb edema. During his evaluation, he had near-nephrotic range proteinuria of 2902 mg/24 h, a kidney ultrasound showing mild pyelocalyceal dilation, proliferative diabetic retinopathy, and was also diagnosed with functional hypogonadotropic hypogonadism. These comorbidities improved with adequate glycemic control. WES showed missense variant c.94G>A (p.Gly32Ser) in the INS gene, according to Clinvar corresponding to MODY10. It was a "de novo" variant not reported in his parents. (4) Conclusions: Monogenic diabetes (MD) is rare and MODY10 is among the less frequent types. MODY should be suspected in patients with type 1 phenotype with negative autoimmunity even in the absence of a family history of diabetes. To the best of our knowledge, we present here the first patient with these phenotypic traits of MODY10 reported in Latin America.


Asunto(s)
Diabetes Mellitus Tipo 2 , Nefropatías Diabéticas , Retinopatía Diabética , Hipogonadismo , Humanos , Masculino , Retinopatía Diabética/genética , Retinopatía Diabética/diagnóstico , Retinopatía Diabética/complicaciones , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/genética , Hipogonadismo/genética , Hipogonadismo/complicaciones , Adolescente , Nefropatías Diabéticas/genética , Nefropatías Diabéticas/complicaciones
2.
J Endocrinol Invest ; 47(3): 571-583, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37624484

RESUMEN

PURPOSE: A variable number of tandem repeats (VNTR) in the insulin gene (INS) control region may be involved in type 2 diabetes (T2D). The TH01 microsatellite is near INS and may regulate it. We investigated whether the TH01 microsatellite and INS VNTR, assessed via the surrogate marker single nucleotide polymorphism rs689, are associated with T2D and serum insulin levels in a Mexican population. METHODS: We analyzed a main case-control study (n = 1986) that used univariate and multivariate logistic regression models to calculate the risk conferred by TH01 and rs689 loci for T2D development; rs689 results were replicated in other case-control (n = 1188) and cross-sectional (n = 1914) studies. RESULTS: TH01 alleles 6, 8, 9, and 9.3 and allele A of rs689 were independently associated with T2D, with differences between sex and age at diagnosis. TH01 alleles with ≥ 8 repeats conferred an increased risk for T2D in males compared with ≤ 7 repeats (odds ratio, ≥ 1.46; 95% confidence interval, 1.1-1.95). In females, larger alleles conferred a 1.5-fold higher risk for T2D when diagnosed ≥ 46 years but conferred protection when diagnosed ≤ 45 years. Similarly, rs689 allele A was associated with T2D in these groups. In males, larger TH01 alleles and the rs689 A allele were associated with a significant decrease in median fasting plasma insulin concentration with age in T2D cases; the reverse occurred in controls. CONCLUSION: Larger TH01 alleles and rs689 A allele may potentiate insulin synthesis in males without T2D, a process disabled in those with T2D.


Asunto(s)
Diabetes Mellitus Tipo 2 , Tirosina 3-Monooxigenasa , Femenino , Masculino , Humanos , Secreción de Insulina , Diabetes Mellitus Tipo 2/epidemiología , Diabetes Mellitus Tipo 2/genética , Repeticiones de Minisatélite , Estudios de Casos y Controles , Estudios Transversales , Ayuno , Insulina , Repeticiones de Microsatélite/genética
3.
Curr Issues Mol Biol ; 45(8): 6842-6850, 2023 Aug 16.
Artículo en Inglés | MEDLINE | ID: mdl-37623251

RESUMEN

HLA-G is a physiology and pathologic immunomodulator detrimentally related to cancer. Its gene is heavily transcriptionally and post-transcriptionally regulated by variants located in regulator regions like 3'UTR, being the most studied Ins/Del of 14-bp (rs66554220), which is known to influence the effects of endogen cell factors; nevertheless, the reports are discrepant and controversial. Herein, the relationship of the 14-bp Ins/Del variant (rs66554220) with breast cancer (BC) and its clinical characteristics were analyzed in 182 women with non-familial BC and 221 disease-free women as a reference group. Both groups from western Mexico and sex-age-matched (sm-RG). The rs66554220 variant was amplified by SSP-PCR and the fragments were visualized in polyacrylamide gel electrophoresis. The variant rs66554220 was not associated with BC in our population. However, we suggest the Ins allele as a possible risk factor for developing BC at clinical stage IV (OR = 3.05, 95% CI = 1.16-7.96, p = 0.01); nevertheless, given the small stratified sample size (n = 11, statistical power = 41%), this is inconclusive. In conclusion, the 14-bp Ins/Del (rs66554220) variant of HLA-G is not associated with BC in the Mexican population, but might be related to advanced breast tumors. Further studies are required.

4.
Postepy Dermatol Alergol ; 40(2): 246-252, 2023 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-37312918

RESUMEN

Introduction: The HLA-G molecule functions as a critical immunomodulatory checkpoint, its expression is significantly associated with pathological processes that may be responsible in part for autoimmune conditions such as non-segmental vitiligo (NS-V), characterized by chronic skin depigmentation. In this sense, the rs66554220 (14 bp ID) variant located in the 3'UTR, implicated in the regulation of HLA-G production, is associated with autoimmune diseases. Aim: To evaluate the role of the HLA-G rs66554220 variant in NS-V and its clinical features in Northwestern Mexicans. Material and methods: We genotyped the rs66554220 variant by SSP-PCR in 197 NS-V patients and 198 age-sex matched non-related healthy individuals (HI). Results: Del allele and genotype Del/Ins were the most prevalent in both study groups (NS-V/HI = 56%/55% and 46.70%/46.46%, respectively). Despite lacking association between the variant and NS-V, we found an association of the Ins allele in different inheritance models with familial clustering, onset of the illness, universal clinical subtype and Koebner's phenomenon. Conclusions: The rs66554220 (14 bp ID) variant is not a risk factor for NS-V in the Mexican population studied. To our knowledge, this is the first report about the topic in the Mexican population and worldwide that includes clinical features related with this HLA-G genetic variant.

5.
Nutrients ; 14(23)2022 Dec 06.
Artículo en Inglés | MEDLINE | ID: mdl-36501225

RESUMEN

BACKGROUND AND AIMS: Currently, treatments are being sought to improve the control of type II diabetes mellitus (T2DM), and inulin has been shown to be effective in reducing glucose levels and other metabolic control parameters. These effects on metabolic control may be associated with changes in the epigenetic modulation of genes of the insulin pathway. Therefore, our objective is to determine the effect of agave inulin in metabolic control parameters and in INS and IRS1 genes' methylation in T2DM patients. METHODS: This was a longitudinal experimental study with 67 Mexican participants who received an intervention of inulin agave (10 g daily) for 2 months. The methylation of the INS and IRS1 genes was determined by MSP. RESULTS: For the INS gene, we found a significant decrease in the proportions of T2DM patients with methylated DNA after inulin intervention (p = 0.0001). In contrast, the difference in the proportions of the unmethylated IRS1 gene before and after the inulin intervention was not significant (p = 0.79). On the other hand, we observed changes in the number of T2DM patients' recommended categories for metabolic control depending on the methylation of INS and IRS1 genes before and after treatment with inulin. CONCLUSION: For the first time, we report the modification in the methylation of two genes, INS and IRS1, of the insulin pathway and provide information on the possible relevant role of epigenetics as a key factor in positive changes in metabolic control parameters by inulin intake in T2DM patients.


Asunto(s)
Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Diabetes Mellitus Tipo 2/genética , Inulina/metabolismo , Metilación , Insulina/metabolismo , México , Proteínas Sustrato del Receptor de Insulina/genética , Proteínas Sustrato del Receptor de Insulina/metabolismo
6.
J Matern Fetal Neonatal Med ; 35(20): 3833-3839, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29130768

RESUMEN

OBJECTIVE: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents. METHODS: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. The molecular analysis was performed by polymerase chain reaction and restriction fragment length polymorphism (reaction chain polymerase restriction fragment length polymorphism) or polymerase chain reaction. The χ2 test (chi-square) was used to compare allele's differences among the study and the control group. Hardy-Weinberg equilibrium model was performed by χ2 testing. Multiple logistic regression models and binary logistic regression used to determine the association between polymorphisms and parental DS risk. RESULTS: This study did not reveal any significant difference in frequencies of polymorphisms. The haplotype analysis did not reveal linkage disequilibrium. The logistic regression analysis did not demonstrate differences between the groups. However, the binary logistic regression showed a higher frequency of the polymorphic homozygote genotype in DS parent group to codominant and dominant model in the RFC1 A80G. CONCLUSION: In conclusion, although the screening results were significant only to the RFC1 A80G polymorphism, the other determinations of the genetic factors associated with abnormal chromosome segregation could be helpful in future studies, including other polymorphisms involved in folate metabolism.


Asunto(s)
Síndrome de Down , Ferredoxina-NADP Reductasa , Ácido Fólico , Síndrome de Down/genética , Femenino , Ferredoxina-NADP Reductasa/genética , Ácido Fólico/metabolismo , Humanos , Masculino , Padres , Polimorfismo de Nucleótido Simple
7.
J Neuroimmunol ; 339: 577112, 2020 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-31765953

RESUMEN

We analyzed the association of polymorphisms from the 3' untranslated region of the HLA-G gene in 70 neuromyelitis optica spectrum disorder (NMOSD) patients and 162 healthy controls. No associations were found between the polymorphisms in NMOSD when compared to healthy controls, serology of the anti-AQP4 NMOSD biomarker and Expanded Disability Status Scale (EDSS). In conclusion, the 3' untranslated region 14 bp Ins/Del and +3142C/G polymorphisms seem not to be associated with NMOSD susceptibility, autoantibody production, nor a neurological deficit in patients.


Asunto(s)
Acuaporina 4/genética , Autoanticuerpos/genética , Personas con Discapacidad , Antígenos HLA-G/genética , Neuromielitis Óptica/genética , Polimorfismo de Nucleótido Simple/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Acuaporina 4/sangre , Autoanticuerpos/sangre , Brasil/epidemiología , Femenino , Antígenos HLA-G/sangre , Humanos , Masculino , Persona de Mediana Edad , Neuromielitis Óptica/sangre , Neuromielitis Óptica/epidemiología , Regiones no Traducidas/genética , Adulto Joven
8.
Front Cell Neurosci ; 13: 372, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31481877

RESUMEN

Schizophrenia (SZ) is associated with changes in the structure and function of several brain areas. Several findings suggest that these impairments are related to a dysfunction in γ-aminobutyric acid (GABA) neurotransmission in brain areas such as the medial prefrontal cortex (mPFC), the hippocampus (HPC) and the primary auditory cortex (A1); however, it is still unclear how the GABAergic system is disrupted in these brain areas. Here, we examined the effect of ketamine (Ket) administration during late adolescence in rats on inhibition in the mPFC-, ventral HPC (vHPC), and A1. We observe that Ket treatment reduced the expression of the calcium-binding protein parvalbumin (PV) and the GABA-producing enzyme glutamic acid decarboxylase 67 (GAD67) as well as decreased inhibitory synaptic efficacy in the mPFC. In addition, Ket-treated rats performed worse in executive tasks that depend on the integrity and proper functioning of the mPFC. Conversely, we do not find such changes in vHPC or A1. Together, our results provide strong experimental support for the hypothesis that during adolescence, the function of the mPFC is more susceptible than that of HPC or A1 to NMDAR hypofunction, showing apparent structure specificity. Thus, the impairment of inhibitory circuitry in mPFC could be a convergent primary site of SZ-like behavior during the adulthood.

9.
BMC Med Genet ; 19(1): 180, 2018 10 04.
Artículo en Inglés | MEDLINE | ID: mdl-30286738

RESUMEN

In this comment, we highlight that the IDUA pathogenic variants 704ins5 and c.613_617dupTGCTC are the same, but have different names depending on the nomenclature guideline used. Therefore, the frequency of this variant is 17.6% of alleles in Korean patients. This commentary stresses the importance of proper variant annotation and the use of guidelines when describing or reviewing mutations.


Asunto(s)
Iduronidasa/genética , Mucopolisacaridosis I , China , Humanos , Japón , Mutación
10.
Artículo en Inglés | VETINDEX | ID: vti-18167

RESUMEN

In Brazil, the scorpion species responsible for most severe incidents belong to the Tityus genus and, among this group, T. serrulatus, T. bahiensis, T. stigmurus and T. obscurus are the most dangerous ones. Other species such as T. metuendus, T. silvestres, T. brazilae, T. confluens, T. costatus, T. fasciolatus and T. neglectus are also found in the country, but the incidence and severity of accidents caused by them are lower. The main effects caused by scorpion venoms - such as myocardial damage, cardiac arrhythmias, pulmonary edema and shock - are mainly due to the release of mediators from the autonomic nervous system. On the other hand, some evidence show the participation of the central nervous system and inflammatory response in the process. The participation of the central nervous system in envenoming has always been questioned. Some authors claim that the central effects would be a consequence of peripheral stimulation and would be the result, not the cause, of the envenoming process. Because, they say, at least in adult individuals, the venom would be unable to cross the blood-brain barrier. In contrast, there is some evidence showing the direct participation of the central nervous system in the envenoming process. This review summarizes the major findings on the effects of Brazilian scorpion venoms on the central nervous system, both clinically and experimentally. Most of the studies have been performed with T. serrulatus and T. bahiensis. Little information is available regarding the other Brazilian Tityus species.(AU)


Asunto(s)
Humanos , Animales , Sistema Nervioso Central , Venenos de Escorpión , Intoxicación/complicaciones , Escorpiones , Brasil
11.
J. venom. anim. toxins incl. trop. dis ; J. venom. anim. toxins incl. trop. dis;24: 1-11, 2018. ilus
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1484742

RESUMEN

In Brazil, the scorpion species responsible for most severe incidents belong to the Tityus genus and, among this group, T. serrulatus, T. bahiensis, T. stigmurus and T. obscurus are the most dangerous ones. Other species such as T. metuendus, T. silvestres, T. brazilae, T. confluens, T. costatus, T. fasciolatus and T. neglectus are also found in the country, but the incidence and severity of accidents caused by them are lower. The main effects caused by scorpion venoms - such as myocardial damage, cardiac arrhythmias, pulmonary edema and shock - are mainly due to the release of mediators from the autonomic nervous system. On the other hand, some evidence show the participation of the central nervous system and inflammatory response in the process. The participation of the central nervous system in envenoming has always been questioned. Some authors claim that the central effects would be a consequence of peripheral stimulation and would be the result, not the cause, of the envenoming process. Because, they say, at least in adult individuals, the venom would be unable to cross the blood-brain barrier. In contrast, there is some evidence showing the direct participation of the central nervous system in the envenoming process. This review summarizes the major findings on the effects of Brazilian scorpion venoms on the central nervous system, both clinically and experimentally. Most of the studies have been performed with T. serrulatus and T. bahiensis. Little information is available regarding the other Brazilian Tityus species.


Asunto(s)
Humanos , Animales , Escorpiones , Intoxicación/complicaciones , Sistema Nervioso Central , Venenos de Escorpión , Brasil
12.
World J Gastroenterol ; 23(37): 6854-6867, 2017 Oct 07.
Artículo en Inglés | MEDLINE | ID: mdl-29085228

RESUMEN

AIM: To investigate the association between 16 insertion-deletions (INDEL) polymorphisms, colorectal cancer (CRC) risk and clinical features in an admixed population. METHODS: One hundred and forty patients with CRC and 140 cancer-free subjects were examined. Genomic DNA was extracted from peripheral blood samples. Polymorphisms and genomic ancestry distribution were assayed by Multiplex-PCR reaction, separated by capillary electrophoresis on the ABI 3130 Genetic Analyzer instrument and analyzed on GeneMapper ID v3.2. Clinicopathological data were obtained by consulting the patients' clinical charts, intra-operative documentation, and pathology scoring. RESULTS: Logistic regression analysis showed that polymorphism variations in IL4 gene was associated with increased CRC risk, while TYMS and UCP2 genes were associated with decreased risk. Reference to anatomical localization of tumor Del allele of NFKB1 and CASP8 were associated with more colon related incidents than rectosigmoid. In relation to the INDEL association with tumor node metastasis (TNM) stage risk, the Ins alleles of ACE, HLAG and TP53 (6 bp INDEL) were associated with higher TNM stage. Furthermore, regarding INDEL association with relapse risk, the Ins alleles of ACE, HLAG, and UGT1A1 were associated with early relapse risk, as well as the Del allele of TYMS. Regarding INDEL association with death risk before 10 years, the Ins allele of SGSM3 and UGT1A1 were associated with death risk. CONCLUSION: The INDEL variations in ACE, UCP2, TYMS, IL4, NFKB1, CASP8, TP53, HLAG, UGT1A1, and SGSM3 were associated with CRC risk and clinical features in an admixed population. These data suggest that this cancer panel might be useful as a complementary tool for better clinical management, and more studies need to be conducted to confirm these findings.


Asunto(s)
Neoplasias Colorrectales/genética , Predisposición Genética a la Enfermedad , Mutación INDEL/genética , Polimorfismo Genético/genética , Adulto , Anciano , Anciano de 80 o más Años , Brasil/epidemiología , Estudios de Casos y Controles , Neoplasias Colorrectales/epidemiología , Electroforesis Capilar , Femenino , Genotipo , Técnicas de Genotipaje/instrumentación , Técnicas de Genotipaje/métodos , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Factores de Riesgo
13.
J. appl. oral sci ; J. appl. oral sci;23(3): 272-278, May-Jun/2015. tab, graf
Artículo en Inglés | LILACS, BBO - Odontología | ID: lil-752426

RESUMEN

Objective Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) are among the most common congenital birth defects worldwide. Several lines of evidence point to the involvement of folate, as well as folate metabolizing enzymes in risk reduction of orofacial clefts. Dihydrofolate reductase (DHFR) enzyme participates in the metabolic cycle of folate and has a crucial role in DNA synthesis, a fundamental feature of gestation and development. A functional polymorphic 19-bp deletion within intron-1 of DHFR has been associated with the risk of common congenital malformations. The present study aimed to evaluate the possible association between DHFR 19-bp deletion polymorphism and susceptibility to NS-CL/P in an Iranian population. Material and Methods The current study recruited 100 NS-CL/P patients and 100 healthy controls. DHFR 19-bp deletion was determined using an allele specific-PCR method. Results We observed the DHFR 19-bp homozygous deletion genotype (D/D) vs. homozygous wild genotype (WW) was more frequent in controls than in NS-CL/P patients (25% vs. 13%), being associated with a reduced risk of NS-CL/P in both codominant (OR=0.33, P=0.027) and recessive (OR=0.45, P=0.046) tested inheritance models. We also stratified the cleft patients and reanalyzed the data. The association trend for CL+CL/P group compared to the controls revealed that the DD genotype in both codominant (OR=0.30, P=0.032) and recessive models (OR=0.35, P=0.031) was associated with a reduced risk of CL+CL/P. Conclusions Our results for the first time suggested the DHFR 19-bp D/D genotype may confer a reduced risk of NS-CL/P and might act as a protective factor against NS-CL/P in the Iranian subjects. .


Asunto(s)
Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Adulto , Persona de Mediana Edad , Adulto Joven , Encéfalo/anomalías , Labio Leporino/genética , Fisura del Paladar/genética , Eliminación de Gen , Polimorfismo Genético/genética , Tetrahidrofolato Deshidrogenasa/genética , Estudios de Casos y Controles , Frecuencia de los Genes , Estudios de Asociación Genética , Modelos Logísticos , Reacción en Cadena de la Polimerasa , Valores de Referencia , Medición de Riesgo
14.
Braz. J. Microbiol. ; 44(3): 743-749, July-Sept. 2013.
Artículo en Inglés | VETINDEX | ID: vti-304315

RESUMEN

The ripening process of Serro Minas cheese, one of the most popular cheeses produced with raw milk in Brazil, was studied over the course of 60 days of ripening during dry and rainy seasons. Brazilian legislation prohibits the production of cheese from raw milk unless it was submitted to a maturation period greater than 60 days. However Minas Serro cheese is sold within a few days of ripening. A total of 100 samples of Serro cheese were obtained from five farms, 50 samples were collected during the dry season (winter in Brazil) and 50 samples were collected during the rainy season (summer in Brazil). From each farm, ten cheeses were collected during each season after two days of ripening. Our results showed high levels of total and fecal coliforms at the beginning of the ripening period (approximately 4 Log MPN/g with 3 days of ripening) that decreased with 60 days of ripening reaching almost 1.5 Log MPN/g. Contamination by coagulase-positive staphylococci was reduced by the end of the ripening period. Salmonella spp. was not detected. The staphylococcal enterotoxins B and C were detected in 1% and 4% of the cheeses, respectively, after 30 days of ripening. These results suggest that the ripening process was not effective in eliminating staphylococcal enterotoxins from the cheese. However, none of the investigated strains of Staphylococcus spp. isolated from Serro cheese produced enterotoxins A, B, C or D. The high pathogen and coliform levels at the beginning of the ripening process for the cheese produced during both seasons indicate the need for improvement of the sanitation of the manufacturing conditions.(AU)


Asunto(s)
Estándar de Identidad y Calidad de Productos y Servicios , Intoxicación Alimentaria Estafilocócica , Microbiología
15.
Rev. chil. endocrinol. diabetes ; 6(1): 15-22, ene. 2013. ilus, tab
Artículo en Español | LILACS | ID: lil-726584

RESUMEN

Type 1 diabetes (T1D) results from autoimmune-mediated destruction of the pancreatic beta cells, a process that is conditioned by multiple genes and environmental factors. The process that destroys the pancreatic b cells in T1D is mediated by T cells and leads to a complex phenotype influenced by multiple factors. It has been more than 30 years since the publication of the first evidence suggesting the involvement of a specific chromosomal region, HLA, in modulating the risk for T1D. HLA locus has been known for decades to contribute strongly with the attributable to genetic risk. In addition to HLA, many proposed candidate loci have been described that are associated with risk of developing the disease, including the insulin gene (INS), PTPN22,CTLA-4, PD-1, IL2-RA and IFIH1 which together do not contribute more than 15 percent of the risk. This review compiled the data on T1D genes and discusses the major genetic impact of these genetic aspects in T1D etiology.


Asunto(s)
Humanos , Diabetes Mellitus Tipo 1/genética , Marcadores Genéticos , ARN Helicasas DEAD-box/genética , /genética , Antígenos HLA/genética , Predisposición Genética a la Enfermedad , Insulina/genética , /genética , /genética
16.
Rev. bras. pesqui. méd. biol ; Braz. j. med. biol. res;44(10): 1060-1067, Oct. 2011. ilus, tab
Artículo en Inglés | LILACS | ID: lil-600693

RESUMEN

The actions of thyroid hormone (TH) on pancreatic beta cells have not been thoroughly explored, with current knowledge being limited to the modulation of insulin secretion in response to glucose, and beta cell viability by regulation of pro-mitotic and pro-apoptotic factors. Therefore, the effects of TH on proinsulin gene expression are not known. This led us to measure: a) proinsulin mRNA expression, b) proinsulin transcripts and eEF1A protein binding to the actin cytoskeleton, c) actin cytoskeleton arrangement, and d) proinsulin mRNA poly(A) tail length modulation in INS-1E cells cultured in different media containing: i) normal fetal bovine serum - FBS (control); ii) normal FBS plus 1 µM or 10 nM T3, for 12 h, and iii) FBS depleted of TH for 24 h (Tx). A decrease in proinsulin mRNA content and attachment to the cytoskeleton were observed in hypothyroid (Tx) beta cells. The amount of eEF1A protein anchored to the cytoskeleton was also reduced in hypothyroidism, and it is worth mentioning that eEF1A is essential to attach transcripts to the cytoskeleton, which might modulate their stability and rate of translation. Proinsulin poly(A) tail length and cytoskeleton arrangement remained unchanged in hypothyroidism. T3 treatment of control cells for 12 h did not induce any changes in the parameters studied. The data indicate that TH is important for proinsulin mRNA expression and translation, since its total amount and attachment to the cytoskeleton are decreased in hypothyroid beta cells, providing evidence that effects of TH on carbohydrate metabolism also include the control of proinsulin gene expression.


Asunto(s)
Animales , Bovinos , Ratas , Citoesqueleto de Actina/metabolismo , Factor 1 Eucariótico de Iniciación/metabolismo , Hipotiroidismo/metabolismo , Células Secretoras de Insulina/metabolismo , Proinsulina/genética , ARN Mensajero/metabolismo , Expresión Génica , Hipotiroidismo/genética , Proinsulina/biosíntesis , ARN Mensajero/genética
17.
Educ. med. super ; 15(1): 39-55, ene.-abr. 2001.
Artículo en Español | LILACS | ID: lil-627882

RESUMEN

Shortening as a word building process has become very productive in present day English. Abbreviations in nursing have also found a way for professional and quick communication. The main goals of this article, based on actual teaching-learning problems, is to provide some practical activities to give the learners opportunities to get acquainted with and practice abbreviations in an effective and communicative way, and to provide a glossary of the most frequently used abbreviations by nurses.


El uso de abreviaturas como proceso de construcción de palabras se ha vuelto muy productivo en el Inglés actual. Las abreviaciones también han encontrado un camino para la comunicación profesional y rápida. Los principales objetivos de este artículo, son proporcionar algunas oportunidades prácticas para brindar a los que aprenden oportunidades de familiarizarse y practicar abreviaturas de una forma eficaz y comunicativa, y proporcionar un glosario de las abreviaturas utilizadas más frecuentemente por las enfermeras.


Asunto(s)
Abreviaturas como Asunto , Educación en Enfermería/métodos , Multilingüismo
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