Acro-spondylo-pubic dysostosis associated with cataracts, microcephaly, and normal intelligence.

We report on an adult male with normal intelligence who exhibited an unusual combination of microcephaly, dysostoses of limbs, vertebrae, patellae, and pubic bone, camptodactyly of all fingers, and syndactyly of toes, absent nails on thumbs and some fingers, bilateral cataract, cryptorchidism, polythelia, and nipple-like skin pigmentations of shoulders and upper back. We have been unable to find a description of a similar combination of manifestations in literature. The cause of the anomalies remains unknown.

Biological Activity of a Coumarin Derivative on Heart Failure Using an Ischemia/Reperfusion Injury Model.

Heart failure is a health problem worldwide. There are some drugs for it, including digoxin, spironolactone, captopril, and valsartan, but some of these drugs can produce secondary effects, such as arrhythmia, cough, hyperkalemia, hyponatremia and hypotension. The aim of this research was to evaluate the biological activity of coumarin (2H-chromen-2-one) and its derivatives (3BrAcet-C, 3-4Br-Ph-C, 4-CN-7D-C, 4-Me-7-Ph-C and 6Br-3-D-C) against ischemia/reperfusion injury as a therapeutic alternative for heart failure. In addition, the biological activity of the coumarin derivative 4-Me-7-Ph-C on left ventricular pressure (LVP) was determined in the absence or presence of ouabain and nifedipine at a dose of 1 nM using an isolated rat heart model. The results showed that i) the coumarin derivative 4-Me-7-Ph-C significantly decreased the infarct area (p+=+0.05) compared with 3BrAcet-C, 3-4Br-Ph-C, 4-CN-7D-C, and 6Br-3-D-C; and ii) 4-Me-7-Ph-C increased LVP in a dose-dependent manner, which effect was inhibited by nifedipine. These data suggest that coumarin 4-Me-7-Ph-C may act as a type-L calcium channel activator, so it could be a good agent to treat heart failure.

Evaluation of Biological Activity Exerted by Dibenzo[b,e]Thiophene-11(6H)-One on Left Ventricular Pressure Using an Isolated Rat Heart Model.

BACKGROUND: Some studies show that some Dibenzo derivatives can produce changes in the cardiovascular system; however, its molecular mechanism is not very clear. OBJECTIVE: The objective of this investigation was to evaluate the inotropic activity of ten Dibenzo derivatives (compounds 1 to 10) on either perfusion pressure or left ventricular pressure. METHODS: Biological activity produced by the Dibenzo derivatives on either perfusion pressure or coronary resistance was evaluated using an isolated rat heart. In addition, the molecular mechanism of biological activity produced by compound 4 (Dibenzo[b,e]thiophene-11(6H)-one) on left ventricular pressure was determined using both Bay-k8644 and nifedipine as pharmacological tools in an isolated rat heart model. RESULTS: The results showed that Dibenzo[b,e]thiophene-11(6H)-one increases perfusion pressure and coronary resistance at a dose of 0.001 nM. Besides, other data display that Dibenzo[b,e]thiophene-11(6H)-one increases left ventricular pressure in a dose-dependent manner (0.001 to 100 nM) and this effect was similar to biological activity produced by Bay-k8644 drug on left ventricular pressure. However, the effect exerted by Dibenzo[b,e]thiophene-11(6H)-one was inhibited in the presence of nifedipine at a dose of 1 nM. CONCLUSIONS: All these data suggest that Dibenzo[b,e]thiophene-11(6H)-one increase left ventricular pressure through calcium channel activation. In this way, Dibenzo[b,e]thiophene-11(6H)-one could be a good candidate as positive inotropic agent to heart failure.

Interaction of Some Amino-Nitrile Derivatives with Vascular Endothelial Growth Factor Receptor 1 (VEGFR1) Using a Theoretical Model.

BACKGROUND: Some studies indicate that the angiogenesis process is related to vascular endothelial growth factor, which can interact with endothelial cell surface receptors (VEGF-R1, VEGF-R2, and VEGF-R3); this biochemical process and other factors result in the promotion and growth of new blood vessels under normal conditions. However, some studies indicate that this phenomenon could also occur in cancer cells. It is important to mention that some amino derivatives have been prepared as VEGF-R1 inhibitors; however, their interaction with VEGF-R1 is not clear, perhaps due to different experimental approaches or differences in their chemical structure. OBJECTIVE: The aim of this study was to evaluate the theoretical interaction of several amino-nitrile derivatives (Compounds 1 to 38) with VEGF-R1. METHODS: The theoretical interaction of amino-nitrile derivatives with VEGF-R1 was carried out using the 3hng protein as the theoretical model. In addition, cabozantinib, pazopanib, regorafenib, and sorafenib were used as controls in the DockingServer program. RESULTS: The results showed different amino acid residues involved in the interaction of amino-nitrile derivatives with the 3hng protein surface compared with the controls. In addition, the inhibition constant (Ki) was lower for Compounds 10 and 34 than for cabozantinib. Other results show that Ki for Compounds 9, 10, 14, 27-29 and 34-36 was lower in comparison with pazopanib, regorafenib, and sorafenib. CONCLUSIONS: All theoretical data suggest that amino-nitrile derivatives could produce changes in the growth of some cancer cell lines through VEGFR-1 inhibition. Therefore, these amino-nitrile derivatives could be a therapeutic alternative to treat some types of cancer.

Creencias, actitudes y sentimientos de estudiantes y docentes de enfermería ante la pandemia de covid-19 / Believes, attituds and feelings in nursing students and proffesors facing the covid-19 pandemic

Resumen: Objetivo: Identificar las creencias, actitudes y sentimientos de estudiantes y docentes de la Licenciatura en Enfermería y Obstetricia de la Facultad de Ciencias de la Salud de la Universidad Autónoma de Tlaxcala frente a la pandemia del Covid-19. Materiales y métodos: Estudio descriptivo y trasversal, realizando un muestreo por conveniencia de estudiantes y docentes de enfermería, a quienes se les envió un cuestionario vía internet, previamente validado que valora las creencias, actitudes y sentimientos ante una alerta epidemiológica. Se realizó un análisis descriptivo de los resultados en el programa estadístico SPSS v27. Resultados: El principal temor estudiantes y docentes durante una pandemia son infectar a su familia, la muerte de alguien cercano, no contar con la orientación y medidas de prevención otorgadas por las instituciones donde laboran, pero están conscientes del riesgo y responsabilidad que implica atender a los pacientes, dar o recibir clases presenciales, y es muy bajo el sentimiento de ser discriminados al ser sujetos de alto riesgo de trasmitir la enfermedad. Conclusiones: El temor a infectarse e infectar a los familiares, genera un sentimiento de culpabilidad por el riesgo de morir. Estudiantes y docentes están conscientes del riesgo y por eso exigen la orientación y las medidas de protección en las instituciones.

Abstract: Objective: To identify what believes, attitudes and feelings are in nursing students and professors in the Health Sciences Faculty at the Universidad Autonoma de Tlaxcala, facing the Covid-19 pandemic. Material and Methods: A descriptive and transversal study using a convenient sample population of students and professors in nursing, to whom a questionnaire was sent via internet, previously validated to determine beliefs, attitudes and feelings facing an epidemiologic alert. A descriptive analysis was done in the statistic program SPSS v27. Results: The most common feeling found are: being afraid of infecting a family member or a close friend, the death of a family member or a close friend, not getting appropriate orientation or training by the institution where they work or study to prevent an infection; Though they are conscious of the risk working with infected patients, and also by the responsibilities when attending classes or teaching in a classroom. The feeling for being discriminated by the people is low, thus because they are in risk of infecting other persons. Conclusions: Being afraid of being contagious or widespread the infection within the family members, suffering feelings of guilt over infecting students and professors. Both of them, are conscious of the risk to be infected, and all them claim the institution for protection and orientation programs to avoid the infection by Covid-19.

Valoración de la dependencia funcional en adultos mayores asociado a riesgo de caídas en el hogar / Assessment of functional dependence in elderly associated with risk of falls at home / Estimation de la dépendance fonctionnel en adultes âgés associé au risque des chutes au foyer / Avaliação da dependência funcional em idosos associada ao risco de quedas em casa

Resumen Objetivo Valorar el estado funcional y de salud en el adulto mayor, y determinar causas y factores asociados a caídas en el hogar. Material y métodos Estudio descriptivo y transversal, realizado en 13 comunidades de Tlaxcala, con una muestra de 364 adultos mayores de 65 años de edad. Se determinó el grado de funcionalidad y salud, y factores de riesgo de caídas en el hogar. La información se analizó en el paquete estadístico SPSS v21. Resultados El 55.5% de los sujetos son mujeres, el 44.4% amas de casa, el rango de edad predominante fue de 65 a 69 años, 67.3% habitan en área urbana, 47.5% tienen seguro popular, y 55.2% viven en pareja. El 57.7% es independiente para realizar las actividades básicas de la vida diaria. 174 (47.8%) tuvieron alguna caída en los últimos seis meses, con mayor frecuencia dentro de hogar (75%), patio (23%), recámara (15.75), y el baño (12%). El 83% tienen poco riesgo de sufrir una caída, 15.1% mediano riesgo, y 2% alto riesgo. Las mujeres (63.2%), principalmente con sobrepeso (42%), y las que viven en pareja (50.6%) sufren más caídas. Los principales factores de riesgo son el uso de alfombras que no están fijas, falta de tapete anti-derrapante en el baño, escaleras que carecen de luz o pasamanos, sillas en mal estado, y dificultad para alcanzar objetos altos; los que consumen medicamentos (68.4%), por alguna enfermedad (60.9%), o tienen alguna dependencia funcional (57.5%) tienen mayor propensión a las caídas. El 60% de los sujetos menciona que tienen miedo de caer nuevamente. Conclusión Concientizar al adulto mayor y familiares y modificar su ambiente doméstico para minimizar los peligros, promover la salud, prevenir enfermedades e incapacidades del adulto mayor con el objetivo de disminuir los riesgos de sufrir accidentes y caídas.

Abstract Objective To determine sociodemographic conditions and functionality in elderly, and its relationship to the risk of falling at home. Material and methods This is a descriptive and transversal study carried out in 13 communities in the State of Tlaxcala, with a sample size of 364 older than 65 years-old elderly. A four section validated questionnaire was applied to determine health and functional status, and to know and determine their fall- risk factors in the home setting. Data were analyzed using the statistic program SPSS v21. Results The 55.5% of the elderly are women, 44.4% are housewives, most of the subjects have an age between 65 to 69 years old, 67.3% live in an urban area, 47.5% have the popular social security service, 55.2% have a couple. The 57.7% are able to do daily basic activities independently. 174 (47.8%) of the subjects suffered a fall in the last six months, the most frequent places were inside home (75%), patio (23%), bedroom (15.75%), and the bathroom (12%). An 83% have low risk to suffering a fall inside home, 15.1% medium risk, and 2% high risk. Women (63.2%), mainly with overweight (42%), and those living with a couple (50.6%) have more tendency to falling down. The main risk factors for falling are carpets not fixed to the floor, a lack of bath mat in the bathrooms, no switch, no banister or light in the stairs, chairs in bad condition, objects out of hand; those who use drugs (68.4%), for being sick (60.9%), or with a functional dependence (57.5%) have higher risk for falling. The 60% of the adults are afraid of falling again. Conclusions Both the elderly and their relatives have to be aware of the danger inside home, therefore the importance of increase health promotion to prevent diseases and disabilities due to accidents and fallings.

Résumé Objectif Estimer l´état fonctionnel et de la santé dans l´adultes âgés et déterminer causes et facteurs associés aux chutes au foyer. Matériaux et méthodes Étude descriptif et transversal, réalisait en 13 communautés de l´état de Tlaxcala, avec une signe de 364 adultes majeurs de 65 ans d´âge. S´appliqué un questionnaire pour déterminer le degré de fonctionnalité et santé, et connaitre les facteurs de risque au foyer. L´information s´analysait au paquet statistique SPSS v21. Résultats 55.5% de les sujets sont femmes, 44.4% sont maitresses de maison, le rang d´âge prédominant était de 65 à 69 ans, 67.3% habitent dans un aire urban, 47.5% racontent avec assurance populaire, et 55.2% habitent ensemble. 57.7% est indépendant pour réaliser activites basiques de la vie quotidienne. 174 (47.8%) avaient quelque chute dans les derniers six mois, fréquemment dans la maison (75%), dans le cour (23%), dans la chambre (15.75), et dans la salle de bain (12%). 83% a un peu de risque de souffrir chutes, 15.1% moyenne risque, et 2% haut risque. Les femmes (63.2%), principalement en surpoids, et ces qui habitent avec un couple (50.6%) soufrent plus chutes. Les principaux facteurs de risque sont l´usage de tapis que ne sont pas fixe, faute de tapis anti dérapé dans la salle de bain, escaliers qui manquent de lumière de mains courant, chaises dans un mauvais état, et difficulté pour acquérir des objects hauts, qui consomment des médicaments (68.4%), à cause d´une maladie (60.9%), ont quelque dépendance fonctionnelle (57.5%), ou ont majeur propension pour les chutes. 60% de adultes âgés mentionne quónt peur de retomber. Conclusion C´est nécessaire conscientiser à adultes âgés et à sa famille de modifier sa ambiance domestique pour minimiser les dangers, promouvoir la santé, prévoir maladies et incapacités de l´adulte avec l´objectif de diminuer risques de souffrir accidents et chutes.

Resumo Objetivo Avaliar o estado funcional e de saúde dos idosos e determinar causas e fatores associados a quedas em casa´. Material e métodos Estudo descritivo e transversal, realizado em 13 comunidades do Estado de Tlaxcala, com uma amostra de 364 adultos acima de 65 anos. Um questionário foi aplicado para determinar o grau de funcionalidade e saúde e para conhecer os fatores de risco de quedas em casa. As informações foram analisadas no pacote estatístico SPSS v21. Resultados O 55,5% dos sujeitos são mulheres, 44,4% donas de casa, a faixa etária predominante foi de 65 a 69 anos, 67,3% moram em áreas urbanas, 47,5% possuem sistema único de saúde e 55,2% vivem como um casal. O 57,7% são independentes para realizar as atividades básicas da vida cotidiana. 174 (47,8%) tiveram alguma queda nos últimos seis meses, na maioria das vezes dentro de casa (75%), quintal (23%), quarto (15,75) e banheiro (12%). O 83% têm pouco risco de cair, 15,1% risco médio e 2% risco alto. As mulheres (63,2%), principalmente com sobrepeso (42%) e as que vivem em casal (50,6%) sofrem mais quedas. Os principais fatores de risco são o uso de tapetes não fixos, falta de tapete antiderrapante no banheiro, escadas sem luz ou corrimão, cadeiras em mau estado e dificuldade em alcançar objetos altos; Aqueles que consomem medicamentos (68,4%), para algumas doenças (60,9%), ou possuem alguma dependência funcional (57,5%), têm maior propensão a quedas. 60% dos idosos mencionaram que têm medo de cair novamente. Conclusão É necessário sensibilizar aos idosos e suas famílias para modificar o ambiente doméstico, a fim de minimizar os perigos, promover a saúde, prevenir doenças e incapacidades do idoso, a fim de reduzir os riscos de acidentes e quedas.

Expansion of the clinical ocular spectrum of Wolfram Syndrome in a family carrying a novel WFS1 gene deletion.

PURPOSE: To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly. METHODS: Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene. RESULTS: Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients. CONCLUSIONS: The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.

Promotion of a healthy lifestyle in individuáis with type 2 diabetes mellitus in rural communities / Promoción de un estilo de vida saludable en individuos con diabetes mellitus tipo 2 en comunidades rurales / Promoção de uma vida saudável em individuos com o tipo 2 de diabetes mellitus em comunidades rurais / Promotion d'un mode de vie sain chez des personnes atteintes de diabète mellitus de type 2 en communautés rurales

Abstract Objective: To determine the lifestyle of individuáis with type 2 diabetes mellitus (DM2) in rural communities. Materials and methods: A sample population of 126 subjects with DM2 were evaluated to determine their body mass index (BMI), glycosylated hemoglobin (GH) and a two-phase questionnaire was applied to determine changes in their lifestyle before and after the study. Results: Initial and final BMI was 26.67 and 26.36 respectively, and GH was 7.74 and 7.33 respectively without a significant difference. The survey showed that 69.3% of the population has a low self-esteem as consequence of their status of life; 56.5% do not go with their physician; 30.2% do not have interest in their health status; 39% do not know about their diseases; 34% do not practice any type of exercise; 56.6% is not or just some times are interested to get a good nutrition, and only 16.2% are conscious of doing exercise frequently. Conclusions: Cultural factors, sociodemographic status, and knowledge about health, have an impact in the lifestyle of this DM2 population. Is necessary to develop programs to improve health and lifestyle in patients with diabetes in rural communities.

Resumen Objetivo: Determinar el estilo de vida en sujetos con diabetes mellitus tipo 2 (DM2) en comunidades rurales. Materiales y métodos: Una muestra poblacional de 126 sujetos con DM2 fueron evaluados para determinar su índice de masa corporal (IMC), hemoglobina glicosilada (HG) y se les aplicó un cuestionario de dos fases para determinar cambios en su estilo de vida antes y después del estudio. Resultados: El IMC inicial y final fue de 26.67 y 26.36 respectivamente, y la HG fue de 7.74 y 7.33 respectivamente, sin diferencias significativas en ambos casos. La encuesta demostró que el 69.3% de la población tiene una baja autoestima como consecuencia de su estilo de vida; 56.5% no acuden con su médico; 30.2% no tienen interés en su estado de salud; 39% no tienen conocimiento de su enfermedad; 34% no practican ningún tipo de ejercicio; 56.6% no están interesados en mantener una buena nutrición, y solo el 16.2% están concientes de hacer ejercicio frecuentemente para mejorar su salud Conclusiones: Los factores culturales, el estado sociodemográfico y el grado de conocimiento sobre la salud, tienen un impacto en el estilo de vida de los sujetos con DM2. Es necesario desarrollar programas para mejor el estado de salud y el estilo de vida de la población con diabetes en las comunidades rurales.

Resumo Objetivo: Determinar o estilo de vida em indivíduos com o tipo 2 de diabetes mellitus (DM2) em comunidades rurais. Materiais e métodos: Foi usada uma amostra de 126 indivíduos com DM2 que foram avaliados para determinar o seu índice de massa corporal (IMC), a hemoglobina glicosilada (HG) e foi-lhes aplicado um questionário em duas fases para determinar as alterares no seu estilo de vida operadas antes e depois do estudo. Resultados: O IMC inicial e final foi de 26.67 e de 26.36, respetivamente, e a HG foi de 7.74 e de 7.33, respetivamente, sem diferen9as significativas em ambos os casos. A amostra demonstrou que 69.3% da popula9áo possui uma baixa auto-estima como consequencia do seu estilo de vida; 56.5% nao vai a consultas ao seu médico; 30.2% náo demonstra interesse pelo seu estado de saúde; 39% náo tem conhecimento da sua doença; 34% náo pratica exercício físico; 56.6% náo está interesado em manter uma boa alimenta9áo e só 16.2% está consciente que deve fazer exercício físico frequentemente para manter a sua saúde. Conclusões: Os fatores culturais, as características sociodemográficas e o grau de conhecimento sobre a saúde tem um impacte no estilo de vida dos indivíduos com DM2. Torna-se necessário desenvolver programas para melhorar o estado de saúde e o estilo de vida da populaçáo com diabtes nas comunidades rurais.

Résumé Objectif: Déterminer le mode de vie de sujets atteints de diabete mellitus de type 2 (DM2) dans des communautés rurales. Matériaux et méthodes: Un échantillon de population de 126 sujets atteints de DM2 a été évalué pour déterminer l'indice de masse corporelle (IMC) et l'hémoglobine glycosylée (HG). Un questionnaire constitué de deux phases pour déterminer des changements de mode de vie avant et apres l'étude a été appliqué. Résultats: Les résultats ont indiqué un IMC initial de 26,67 et un IMC final et 26,36, ainsi qu'une HG initiale de 7,74 et finale de 7,33, sans différence significative dans les deux cas. L'enquete a montré que 69,3% des sujets ont une faible estime de soi en relation a leur mode de vie; 56,5% ne consultent pas de médecin; 30,2% ne s'intéressent pas a leur santé; 39% n'ont pas de connaissances sur leur maladie; 34% ne pratiquent aucune activité physique; 56,6% ne sont pas intéressés a maintenir une bonne nutrition, et seulement 16,2% se responsabilisent de faire de l'exercice régulierement pour améliorer leur santé. Conclusions: Les facteurs culturels, le statut socio-démographiques et le degré de connaissance sur la santé ont un impact sur le mode de vie des personnes atteintes de DM2. Des programmes devraient etre développés pour améliorer la santé et le mode de vie des personnes atteintes de diabete dans les communautés rurales.

La "juventud inmigrante" en España: complejidad de una categoría discursiva a debate / A "juventude imigrante" na Espanha: complexidade de uma categoria discursiva em debate / "Immigrant youth" in Spain: the complexity of a discursive category for discussion

Este artículo tiene como objetivo proponer una reflexión acerca del discurso sociológico de la juventud en el ámbito de las Ciencias Sociales. Expongo la complejidad existente en la construcción del concepto y analizo cómo la situación se dificulta aún más si el análisis se dirige hacia la categoría de la ®juventud inmigrante¼. Esta temática se muestra como campo emergente de estudio para la investigación aunque existen dificultades al respecto manifestadas en la construcción y definición del binomio, a pesar de la configuración del colectivo y de su presencia en distintas esferas sociales, tal y como lo reflejo en la presentación de algunas características sociodemográficas de los jóvenes y las jóvenes inmigrantes en España.

Este artigo tem por objectivo propor uma reflexão teórica sobre o discurso sociológico da juventude no âmbito das ciências sociais. Exponho a complexidade existente na construção do conceito e analiso a forma como a situação se dificulta ainda mais se a análise se orientar para a categoria da ®juventude imigrante¼. Esta temática apresenta-se como campo emergente de estudo para a investigação embora haja dificuldades a este respeito manifestadas na construção e definição do binómio, apesar da configuração do grupo e da sua presença em diferentes áreas sociais, como reflexo na apresentação de algumas características sócio-demográficas dos jovens imigrantes na Espanha.

The aim of this article is to propose a theoretical reflection regarding the sociological discourse on youth in the sphere of the social sciences. I present the complexity that exists in the construction of the concept and analyse how the situation is made even more difficult when the analysis focuses on the category of “immigrant youth”. This subject is an emerging field of study for research activity, although difficulties exist regarding the construction and definition of the binomial, despite the configuration of the collective and its presence in different social spheres, as I reveal in the presentation of some socio-demographic characteristics of young immigrants in Spain.