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This study intends to describe for the first time a cohort of Mexican patients with Costello syndrome. The five exons of the HRAS gene were amplified in DNA samples from 13 patients with a clinical suspicion of Costello syndrome. PCR products were sequenced using the Ready Reaction Big Dye Terminator v.3.0 Kit and an ABI PRISM 310 sequencer. Only five patients (38%) showed causal variant in codon 12 of the HRAS gene (four with the p.Gly12Ser and one with the p.Gly12Ala variant). Three patients showed silent polymorphic variants (p.His27His and p.Leu159Leu). Clinical features in patients carrying the causal variant were variable. The alternative diagnosis of cardio-facio-cutaneous syndrome was considered in patients who did not have a causative variant in HRAS.

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Hypertrichosis is a rare condition characterized by excessive hair in areas of the body that are not predominantly androgen dependent. We can identify three main syndromes with congenital generalized hypertrichosis terminalis described in Mexico. The first is X-linked generalized hypertrichosis, an ultra-rare disease, with few cases reported to date. The second is Cantú syndrome, also known as hypertrichotic osteochondrodysplasia, which has a wide spectrum of clinical manifestations and is caused by pathogenic variants in ABCC9 and KCNJ8. The third is congenital hypertrichosis terminalis with or without gingival hyperplasia, which displays other features and involves several associated genes. The first two syndromes were described by the Mexican geneticist José María Cantú, and the concept of atavistic genes was invoked to explain the emergence of this outstanding trait. By understanding the genetic and pathophysiological basis of hypertrichosis, we can offer effective treatment to patients and help solve esthetic problems related to hair growth.

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BACKGROUND: The Interleukin (IL)-1 family of cytokines plays a key role in the inflammatory response. Genes coding for IL-1α, IL-1ß, and IL-1Ra are located together as a block gene known as the IL-1 cluster. This genomic region shows wide nucleotide variability, and some polymorphisms have been widely studied and associated with features related to the metabolic syndrome. METHODS: Eight polymorphisms within three genes of the IL-1 cluster, including IL1A (rs3783553, rs17561, and rs1800587), IL1B (rs1143634, rs1143627, and rs16944) and IL1RN (rs419598 and rs2234663) were genotyped in 460 Mexican adolescents. Genotype and haplotype frequencies are reported, as well as the linkage disequilibrium analysis. Genetic associations with some anthropometric and metabolic traits were evaluated. RESULTS: Allele frequencies were similar to those found in other populations, and genotype proportions were according to the Hardy-Weinberg equilibrium. Seven haplotypes were observed at frequencies ≥5%. Of the entire cluster, only the rs17561-rs1800587 and rs1143627-rs16944 pairs showed highest and significant linkage disequilibrium values. An haplotype of IL1A, rs17561T-rs1800587T, was significantly associated with increase in body mass index in males (p <0.008), whereas IL1B and IL1RN variants showed associations with insulin, and hs-CRP (p <0.05). CONCLUSIONS: Some MetS parameters seem to be influenced by variations in the IL-1 gene cluster in Mexican adolescents. These variations may confer risk for metabolic alterations from early ages, and and these risks may be different when variables such as sex are considered. Strategies leading to generate protective behaviors could be designed to take into account specific variations in the IL-1 gene cluster and biological conditions such as sex.

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Gestational diabetes mellitus (GDM) is a metabolically complex disease with major genetic determinants. GDM has been associated with insulin resistance and dysfunction of pancreatic beta cells, so the GDM candidate genes are those that encode proteins modulating the function and secretion of insulin, such as that for calpain 10 (CAPN10). This study aimed to assess whether single nucleotide polymorphism (SNP)-43, SNP-44, SNP-63, and the indel-19 variant, and specific haplotypes of the CAPN10 gene were associated with gestational diabetes mellitus. We studied 116 patients with gestational diabetes mellitus and 83 women with normal glucose tolerance. Measurements of anthropometric and biochemical parameters were performed. SNP-43, SNP-44, and SNP-63 were identified by polymerase chain reaction (PCR)-restriction fragment length polymorphisms, while the indel-19 variant was detected by TaqMan qPCR assays.  The allele, genotype, and haplotype frequencies of the four variants did not differ significantly between women with gestational diabetes mellitus and controls. However, in women with gestational diabetes mellitus, glucose levels were significantly higher bearing the 3R/3R genotype than in carriers of the 3R/2R genotype of the indel-19 variant (p = 0.006). In conclusion, the 3R/3R genotype of the indel-19 variant of the CAPN-10 gene influenced increased glucose levels in these Mexican women with gestational diabetes mellitus.

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Las periodontitis implican pérdida de inserción clínica y destrucción ósea visible en las radiografías. Se consideran las enfermedades más comunes entre las que afectan al periodonto de inserción. Su prevalencia aumenta con la edad hasta alcanzar alrededor del 80% a los 50 años. Con el objetivo de demostrar la regeneración ósea periodontal con plasma rico en plaquetas, se presentó este caso clínico, paciente de 19 años de edad que acudió en búsqueda de atención estomatológica, la cual fue diagnosticada con una periodontitis juvenil. Como conclusión se comprobó que el plasma rico en plaquetas es una posibilidad válida para regenerar o reconstruir el tejido óseo.

Periodontitis involve clinical attachment loss and bone destruction visible on radiographs. They are considered the most common diseases among those affecting the periodontal insertion. Its prevalence increases with age up to about 80% at 50 years. In order to demonstrate the periodontal bone regeneration with platelet-rich plasma, a patient of 19 years old who came for dental care, which was diagnosed as a periodontitis in young people. The author concluded that the platelet-rich plasma is a valid possibility to regenerate or reconstruct the bone tissue

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Las periodontitis implican pérdida de inserción clínica y destrucción ósea visible en las radiografías. Se consideran las enfermedades más comunes entre las que afectan al periodonto de inserción. Su prevalencia aumenta con la edad hasta alcanzar alrededor del 80% a los 50 años. Con el objetivo de demostrar la regeneración ósea periodontal con plasma rico en plaquetas, se presentó este caso clínico, paciente de 19 años de edad que acudió en búsqueda de atención estomatológica, la cual fue diagnosticada con una periodontitis juvenil. Como conclusión se comprobó que el plasma rico en plaquetas es una posibilidad válida para regenerar o reconstruir el tejido óseo.(AU)

Periodontitis involve clinical attachment loss and bone destruction visible on radiographs. They are considered the most common diseases among those affecting the periodontal insertion. Its prevalence increases with age up to about 80% at 50 years. In order to demonstrate the periodontal bone regeneration with platelet-rich plasma, a patient of 19 years old who came for dental care, which was diagnosed as a periodontitis in young people. The author concluded that the platelet-rich plasma is a valid possibility to regenerate or reconstruct the bone tissue

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BACKGROUND: Polycystic ovary syndrome is a complex and heterogeneous disease involving both reproductive and metabolic problems. It has been suggested a genetic predisposition in the etiology of this syndrome. The identification of calpain-10 gene (CAPN10) as the first candidate gene for type 2 diabetes mellitus, has focused the interest in investigating their possible relation with the polycystic ovary syndrome, because this syndrome is associated with hyperinsulinemia and insulin resistance, two metabolic abnormalities associated with type 2 diabetes mellitus. OBJECTIVE: To investigate if there is association between the SNP-63 and the variant indel-19 of the CAPN10 gene and polycystic ovary syndrome in women of reproductive age. MATERIAL AND METHODS: This study included 101 women (55 with polycystic ovary syndrome and 46 without polycystic ovary syndrome). The genetic variant indel-19 was identified by electrophoresis of the amplified fragments by PCR, and the SNP-63 by PCR-RFLP. RESULTS: The allele and genotype frequencies of the two variants do not differ significatly between women with polycystic ovary syndrome and control women group. The haplotype 21 (defined by the insertion allele of indel-19 variant and C allele of SNP-63) was found with higher frequency in both study groups, being more frequent in the polycystic ovary syndrome patients group, however, this difference was not statistically significant (p = 0.8353). CONCLUSIONS: The results suggest that SNP-63 and indel-19 variant of the CAPN10 gene do not represent a risk factor for polycystic ovary syndrome in our patients group.

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UNLABELLED: The Bristol Stool Form Scale is used for describing feces. The objective of this research was its translation, cultural adaptation and validation for Brazil. The methodology was translation, back-translation and discussion. Validation involved 85 nurses, 80 doctors, and 80 patients, who correlated images of seven types of feces with the descriptions. RESULTS: there was a difference in sex distribution, with males predominating among the doctors and females among nurses and patients. In relation to concordance between definitions and pictures, the highest percentage was in type 5 in all three groups and the lowest was in types 6 and 7 for the doctors, in type 3 for the nurses, and type 6 for the patients. The general Kappa index was 0.826. CONCLUSION: the scale demonstrated high reliability for all the groups studied.

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The Bristol Stool Form Scale is used for describing feces. The objective of this research was its translation, cultural adaptation and validation for Brazil. The methodology was translation, back-translation and discussion. Validation involved 85 nurses, 80 doctors, and 80 patients, who correlated images of seven types of feces with the descriptions. Results: there was a difference in sex distribution, with males predominating among the doctors and females among nurses and patients. In relation to concordance between definitions and pictures, the highest percentage was in type 5 in all three groups and the lowest was in types 6 and 7 for the doctors, in type 3 for the nurses, and type 6 for the patients. The general Kappa index was 0.826. Conclusion: the scale demonstrated high reliability for all the groups studied.

A Escala de Bristol para Consistência de Fezes é usada na descrição de fezes. O objetivo deste estudo foi realizar a tradução, adaptação cultural e validação para o Brasil, dessa escala. Como metodologia realizou-se a tradução, tradução reversa e discussão. Para essa validação, incluíram-se 85 enfermeiros e 80 médicos e pacientes que correlacionaram imagens de sete tipos de fezes com descrições. Os resultados mostraram que houve diferença de distribuição do sexo, com predomínio do sexo masculino para médicos e feminino para enfermeiros e pacientes. Em relação à concordância entre definições e imagens, o maior percentual, no tipo 5, e os menores percentuais, nos tipos 6 e 7, relacionaram-se aos médicos; no tipo 3 referiram-se aos enfermeiros e no tipo 6 aos pacientes. O índice Kappa geral foi de 0,826. Conclui-se que a escala demonstrou alta confiabilidade em todos os grupos estudados.

La "Bristol Stool Form Scale" es usada para describir las heces. Objetivo: traducción, adaptación cultural y la validación para ser utilizada en Brasil. Metodología: Fue realizada la traducción, la traducción inversa y la discusión final. Para validar, se incluyeron 85 enfermeros y 80 médicos y pacientes que correlacionaron diseños de siete tipos de heces con descripciones. Resultados - Hubo diferencia en cuanto a la distribución del sexo con predominio masculino entre los médicos y femenino para los enfermeros y pacientes. Con respecto a la concordancia entre los conceptos y las imágenes, la mayor concordancia fue del tipo 5 en cuanto que el de menor correspondencia para los médicos fueron los tipos 6 y 7, para los enfermeros el 3 y el 6 para los pacientes. El índice de Kappa general fue de 0,826. Conclusión: Los valores obtenidos demuestran la alta confiabilidad de este cuestionario con respecto a los grupos estudiados.

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O exercício físico é recomendado para promover a saúde e melhorar a qualidade de vida. As condições para a realização de atividade física devem incluir local, roupas, supervisão e elaboração de antemão. O objetivo desta pesquisa verificar se existe influência da renda familiar na freqüência e na forma de se praticar exercícios físicos. Utilizou-se um questionário especialmente elaborado para os dados socio demográficos, freqüência, tipo e condições da prática de exercícios. Setenta pacientes, divididos em dois grupos: assistidos por instituições públicas de saúde (A) e assistidos por organizações privadas (B). Em ambos os grupos se observou uma maioria de mulheres (A - 66%; B - 60%) e casados. Em relação ao status sócio-econômico, os membros do grupo A têm maior renda e escolaridade.Os resultados mostram maior freqüência de atividade física entre os conveniados. Ambos os grupos têm a maioria dos componentes que não praticam exercícios. Entre aqueles que praticam exercício regularmente, a maior parte o faz de 1-3 vezes por semana, com duração entre 30-50 minutos. A modalidade principal é caminhar sem supervisão ou preparação como aquecimento ou alongamento. Osníveis econômicos e educacionais não influenciam a freqüência, tipo e condições da prática de exercícios.

Exercise is recommended in order to promote health and to improve quality of life. The conditions required for physical activity should include location, clothing, supervision and preparation beforehand. The objective of this research is to see if family income influences the frequency and manner of doing physical exercise. A questionnaire containing data on demographics, frequency, type and conditions of exercise practiced involving seventy subjects, divided into two groups: assisted by public health institutions (A) and private rganizations (B) was used. Both groups consisted of primarily women (A – 66 %; B - 60%) and married persons. In relation to socio-economic status, members of the B group have a higher income and educational level. There is greater frequency of physical activity among the members of group B. The majority of participants in both groups do not exercise. In both groups, among those who do exercise regularly, the majority does so around 1-3 times per week, fora length of between 30-50 minutes. The main modality is walking without supervision or preparation such as warm ups or stretching. The economicand educational levels do not influence the frequency, type and conditions of exercise practiced.

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First recognised as 'schizonts' of Trypanosoma cruzi, Pneumocystis organisms are now considered as part of an early-diverging lineage of Ascomycetes. As no robust long-term culture model is available, most data on the Pneumocystis cell cycle have stemmed from ultrastructural images of infected mammalian lungs. Although most fungi developing in animals do not complete a sexual cycle in vivo, Pneumocystis species constitute one of a few exceptions. Recently, the molecular identification of several key players in the fungal mating pathway has provided further evidence for the existence of conjugation and meiosis in Pneumocystisorganisms. Dynamic follow-up of stage-to-stage transition as well as studies of stage-specific proteins and/or genes would provide a better understanding of the still hypothetical Pneumocystislife cycle. Although difficult to achieve, stage purification seems a reasonable way forward in the absence of efficient culture systems. This mini-review provides a comprehensive overview of the historical milestones leading to the current knowledge available on the Pneumocystis life cycle.

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First recognised as "schizonts" of Trypanosoma cruzi, Pneumocystis organisms are now considered as part of an early-diverging lineage of Ascomycetes. As no robust long-term culture model is available, most data on the Pneumocystis cell cycle have stemmed from ultrastructural images of infected mammalian lungs. Although most fungi developing in animals do not complete a sexual cycle in vivo, Pneumocystis species constitute one of a few exceptions. Recently, the molecular identification of several key players in the fungal mating pathway has provided further evidence for the existence of conjugation and meiosis in Pneumocystisorganisms. Dynamic follow-up of stage-to-stage transition as well as studies of stage-specific proteins and/or genes would provide a better understanding of the still hypothetical Pneumocystislife cycle. Although difficult to achieve, stage purification seems a reasonable way forward in the absence of efficient culture systems. This mini-review provides a comprehensive overview of the historical milestones leading to the current knowledge available on the Pneumocystis life cycle.

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