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ABSTRACT Objective The follicle-stimulating hormone subunit beta gene rs10835638 variant (c.-211G>T) may have detrimental effects on fertility and protective effects against endometriosis. A case-control analysis was performed, aiming to investigate the possible relationship between this variant and the development and/or progression of endometriosis. Methods This study included 326 women with endometriosis and 482 controls without endometriosis, both confirmed by inspection of the pelvic cavity during surgery. Genotyping was performed using a TaqMan real-time polymerase chain reaction assay. Genotype and allele frequencies and genetic models were compared between the groups. Results The genotype and allele frequencies of the rs10835638 variant did not differ between women with and those without endometriosis. Subdividing the endometriosis group into fertile and infertile groups did not result in a significant difference in these frequencies. However, the subgroup with minimal/mild endometriosis had a higher frequency of the GT genotype than the Control Group, regardless of fertility. The T allele was significantly more common in women with minimal/mild endometriosis than in the Control Group in the recessive model. Conclusion The T allele is associated with the development of minimal/mild endometriosis in Brazilian women.

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RESUMEN Objetivo : Analizar la beta gonadotropina coriónica humana (β-hCG) cualitativa como método diagnóstico de rotura prematura de membranas ovulares (RPM). Métodos: Estudio de casos y controles, prospectivo, con muestra no probabilística por conveniencia, de 90 mujeres entre 24 y 40 semanas de gestación divididas en dos grupos: grupo de estudio (45 pacientes con diagnóstico clínico de RPM) y grupo control (45 pacientes hospitalizadas sin RPM). Se realizó lavado o aspirado vaginal para determinar cualitativamente la β-hCG en kits comerciales de medición β-hCG con umbral de 25 mUI/mL, así también la prueba en papel de nitrazina. Resultados: La sensibilidad, especificidad, valor predictivo positivo y valor predictivo negativo para la prueba de β-hCG-25 fueron 77,8% (IC95%, 63,7 a 87,5), 82,2% (IC95%, 68,7 a 90,7), 81,4% y 78,7%, respectivamente. La precisión diagnóstica fue de 80,0% (0,6 índice kappa Landis & Koch) versus 75,6% para la pH-metría con nitrazina. Conclusiones: La prueba cualitativa de β-hCG mostró un valor diagnóstico representativo y puede corroborar el diagnóstico temprano de RPM, recomendándola por ser una prueba simple, rápida, accesible y de bajo costo.

ABSTRACT Objective : To analyze qualitative human beta chorionic gonadotropin (β-hCG) as a diagnostic method for premature rupture of membranes (PROM). Methods : Prospective case-control study, with a non-probabilistic sample by convenience, of 90 women between 24 and 40 weeks of gestation divided into two groups: study group (45 patients with clinical diagnosis of PROM) and control group (45 patients hospitalized without PROM). Vaginal lavage or aspirate was performed to qualitatively determine β-hCG in commercial β-hCG measurement kits with threshold of 25 mUI/mL as well as nitrazine paper test. Results : The sensitivity, specificity, positive predictive value, and negative predictive value for the β-hCG-25 test were 77.8% (95% CI, 63.7-87.5), 82.2% (95% CI, 68.7-90.7), 81.4%, and 78.7%, respectively. Diagnostic accuracy was 80.0% (0.6 Landis & Koch kappa index) versus 75.6% for nitrazine pH-metry. Conclusions : The qualitative β-hCG test showed a representative diagnostic value and can corroborate the early diagnosis of PROM, recommending it as a simple, rapid, accessible and low-cost test.

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Interleukin-1ß (IL-1ß) is an important cytokine that modulates peripheral and central pain sensitization at the spinal level. Among its effects, it increases spinal cord excitability by reducing inhibitory Glycinergic and GABAergic neurotransmission. In the brain, IL-1ß is released by glial cells in regions associated with pain processing during neuropathic pain. It also has important roles in neuroinflammation and in regulating NMDA receptor activity required for learning and memory. The modulation of glycine-mediated inhibitory activity via IL-1ß may play a critical role in the perception of different levels of pain. The central nucleus of the amygdala (CeA) participates in receiving and processing pain information. Interestingly, this nucleus is enriched in the regulatory auxiliary glycine receptor (GlyR) ß subunit (ßGlyR); however, no studies have evaluated the effect of IL-1ß on glycinergic neurotransmission in the brain. Hence, we hypothesized that IL-1ß may modulate GlyR-mediated inhibitory activity via interactions with the ßGlyR subunit. Our results show that the application of IL-1ß (10 ng/ml) to CeA brain slices has a biphasic effect; transiently increases and then reduces sIPSC amplitude of CeA glycinergic currents. Additionally, we performed molecular docking, site-directed mutagenesis, and whole-cell voltage-clamp electrophysiological experiments in HEK cells transfected with GlyRs containing different GlyR subunits. These data indicate that IL-1ß modulates GlyR activity by establishing hydrogen bonds with at least one key amino acid residue located in the back of the loop C at the ECD domain of the ßGlyR subunit. The present results suggest that IL-1ß in the CeA controls glycinergic neurotransmission, possibly via interactions with the ßGlyR subunit. This effect could be relevant for understanding how IL-1ß released by glia modulates central processing of pain, learning and memory, and is involved in neuroinflammation.

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The convergent evolution of subterranean rodents is an excellent model to study how natural selection operates and the genetic bases of these adaptations, but the study on the different taxa has been very uneven and still insufficient. In the octodontoid caviomorph rodent superfamily there are two independent lineages where they have recently evolved into totally underground lifestyles: the genera Ctenomys (tuco-tucos) and Spalacopus (coruro). The underground habitat is characterized by an hypoxic and hypercapnic atmosphere, thus gas exchange is one of the most important challenges for these animals. The invasion of the underground niche could have modified the selective regimes of proteins involved in the respiration and transport of O2 of these rodents, positively selecting mutations of higher affinity for O2. Here we examine the sequence variation in the beta globin gene in these two lineages, within a robust phylogenetic context. Using different approaches (classical and Bayesian maximum likelihood (PAML/Datamonkey) and alternatives methods (TreeSAAP)) we found at least three sites with evidence of positive selection in underground lineages, especially the basal branch that leads to the Octodontidae family and the branch that leads to the coruro, suggesting some adaptive changes to the underground life. We also found a convergence with another underground rodent, which cannot be identified by the above methods.

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ABSTRACT Objective: To describe the case of a patient with central congenital hypothyroidism (CCH) due to a recurrent mutation in the TSHB gene, as well as to conduct a genetic study of his family. Case description: It is presented a case report of a 5-month-old boy with a delayed diagnosis of isolated CCH in whom the molecular analysis was performed 12 years later and detected a recurrent mutation (c.373delT) in TSHB gene. The parents and sister were carriers of the mutant allele. Comments: The c.373delT mutation has previously been reported in patients from Brazil, Germany, Belgium, United States, Switzerland, Argentina, France, Portugal, United Kingdom and Ireland. In summary, our case and other ones reported in the literature support the theory that this mutation may be a common cause of isolated TSH deficiency. Isolated TSH deficiency is not detected by routine TSH-based neonatal screening, representing a clinical challenge. Therefore, when possible, molecular genetic study is indicated. Identification of affected and carriers allows the diagnosis, treatment and adequate genetic counseling.

RESUMO Objetivo: Descrever o caso de um paciente com hipotireoidismo congênito central (HCC) por conta de uma mutação recorrente no gene TSHB, bem como realizar um estudo genético de sua família. Descrição do caso: Relato de caso de um menino de 5 meses de idade com diagnóstico tardio de HCC isolado, em quem a análise molecular foi realizada 12 anos depois e detectou uma mutação recorrente (c.373delT) no gene TSHB. Os pais e a irmã eram portadores do alelo mutante. Comentários: A mutação c.373delT já foi relatada em pacientes do Brasil, da Alemanha, da Bélgica, dos Estados Uinidos, da Suíça, da Argentina, da França, de Portugal, do Reino Unido e da Irlanda. Em resumo, nosso caso e outros relatados na literatura reforçam a teoria de que essa mutação pode ser uma causa comum de deficiência isolada de TSH. A deficiência isolada de TSH não é detectada na triagem neonatal com base na dosagem de TSH, representando um desafio clínico. Portanto, quando possível, o estudo genético molecular é indicado. A identificação dos afetados e dos portadores permite o diagnóstico, o tratamento e o aconselhamento genético adequado.

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Resumen Introducción: La mola hidatiforme es la forma más común de enfermedad trofoblástica gestacional. La cuantificación de beta-hCG sérica tiene importante valor en su diagnóstico y pronóstico, no obstante en Colombia no se cuenta con referencias de sus niveles según el tipo de mola o factores de riesgo. Objetivo: Estudiar el comportamiento de los valores de beta-hCG según el tipo de mola y los factores de riesgo. Materiales y Métodos: Se estudiaron 74 casos con diagnóstico de mola hidatiforme en el departamento de patología de la Universidad Industrial de Santander entre los años 2005 y 2014. Se registró a partir de los datos proporcionados por la historia clínica: hábito de fumar, hemoclasificación, indicación de régimen EMA-CO, antecedentes sociodemográficos y ginecoobstétricos y la concentración de beta-hCG previa al tratamiento evacuador. Resultados: 63 casos presentaron mediciones válidas de beta-hCG. En el análisis se utilizaron pruebas no paramétricas con un nivel de significancia del 10%. La mediana de beta-hCG para mola completa y parcial fue 270 852 UI/L y 40 379 UI/L respectivamente. Hubo una diferencia significativa para los valores de beta-hCG entre grupos de mola (p<0,0001). Para el diagnóstico de mola completa un punto de corte de 170 000 U/L presentó una sensibilidad del 91,5% y una especificidad del 75%. La indicación de EMA-CO presentó una asociación significativa con los valores de beta-hCG (p=0,066); no alcanzaron significancia las asociaciones con el tabaquismo (p=0,118) y la multiparidad (p=0,111). Conclusión: La cuantificación de beta-hCG ayuda a clasificar el tipo de mola aunque su rendimiento diagnóstico es modesto. MÉD.UIS. 2018;31(1):39-46.

Abstract Introduction: Hydatidiform mole is the most common form of gestational trophoblastic disease. The quantification of serum beta-hCG has important value in its diagnosis and prognosis, however in Colombia there are no references of its values according to the type of mole or risk factors. Objective: To study the behavior of beta-hCG values according to the type of mole and the risk factors. Materials and Methods: 74 cases with diagnosis of hydatidiform mole were studied in the pathology department of the Industrial University of Santander between 2005 and 2014. It was recorded from the data provided by the clinical history: smoking habit, blood sample, indication of the EMA-CO regimen, sociodemographic and gyneco-obstetric antecedents and the beta-hCG concentration prior to the evacuation treatment. Results: 63 cases presented valid measurements of beta-hCG. In the analysis nonparametric tests with a level of significance of 10% were used. The median beta-hCG for complete and partial mole was 270 852 IU / L and 40 379 IU / L respectively. There was a significant difference for beta-hCG values between mola groups (p <0.0001). For the diagnosis of complete mole, a cut-off point of 170,000 U / L showed a sensitivity of 91.5% and a specificity of 75%. The EMA-CO indication showed a significant association with beta-hCG values (p = 0.066); associations with smoking (p = 0.118) and multiparity (p = 0.111) were not significant. Conclusion: The quantification of beta-hCG helps to classify the type of mole although its diagnostic performance is modest. MÉD.UIS. 2018;31(1):39-46.

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Objetivos: revisar o assunto proteína G e seus mecanismos de transdução celular, de forma abrangente e didática.Fonte de dados: foram revisados artigos específicos sobre o tema, disponíveis em periódicos eletrônicos e encontrados através das bases de dados LILACS, PubMed e SciELO.Síntese dos dados: a transdução de sinais é uma função fisiológica que intermedeia o estímulo externo e a resposta celular, sendo o passo de conversão intracelular do agonismo de várias substâncias. Os compostos proteicos envolvidos nessa atividade estão presentes em todos os sistemas do organismo; consequentemente, disfunções na sua estrutura culminam em estados patológicos diversos. A descrição da dinâmica da transdução, da estrutura e funções da proteína G e do seu papel em algumas doenças foram abordados nesta revisão.Conclusões: a revisão da literatura mostra que o tema proteína G não tem gerado muitos trabalhos experimentais.Entretanto, o estudo desse composto protéico evidencia sua grande importância na fisiologia, indicando que disfunções na sua estrutura resultam em vários estados patológicos.

Aims: To review, in a comprehensive and didactic way, the issue G protein and its mechanisms of cellular transduction.Source of data: Articles that address the specific issue, available online, and found through the databases LILACS, PubMed and SciELO, were reviewed.Summary of findings: Signal transduction is a physiological function that mediates the external stimulus and cellular response; it is the conversion step of agonism of several intracellular substances. The protein compounds involved in this activity are present in all body systems, thus dysfunction in its structure results in several pathological states.The description of the dynamics of transduction, structure and functions of G protein and its role in some diseases were addressed in this review.Conclusions: The literature review shows that the subject protein G has not generated many experimental studies.However, the study of this protein compound makes evident its great importance in physiology and indicates that dysfunctions in its structure result in various pathological conditions.

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