Effectiveness of Workplace-Based Diet and Lifestyle Interventions on Risk Factors in Workers with Metabolic Syndrome: A Systematic Review, Meta-Analysis and Meta-Regression.

Workplace health interventions are essential to improve the health and well-being of workers and promote healthy lifestyle behaviours. We carried out a systematic review, meta-analysis and meta-regression of articles measuring the association between workplace dietary interventions and MetS risk. We recovered potentially eligible studies by searching MEDLINE, the Cochrane Library, Embase, Scopus and Web of Science, using the terms "Metabolic syndrome" and "Occupational Health". A total of 311 references were retrieved and 13 documents were selected after applying the inclusion and exclusion criteria. Dietary interventions were grouped into six main types: basic education/counselling; specific diet/changes in diet and food intake; behavioural change/coaching; physical exercise; stress management; and internet/social networks. Most programmes included several components. The interventions considered together are beneficial, but the clinical results reflect only a minimal impact on MetS risk. According to the metaregression, the interventions with the greatest impact were those that used coaching techniques and those that promoted physical activity, leading to increased HDL (effect size = 1.58, sig = 0.043; and 2.02, 0.015, respectively) and decreased BMI (effect size = -0.79, sig = -0.009; and -0.77, 0.034, respectively). In contrast, interventions offering information on healthy habits and lifestyle had the contrary effect, leading to increased BMI (effect size = 0.78, sig = 0.006), systolic blood pressure (effect size = 4.85, sig = 0.038) and diastolic blood pressure (effect size = 3.34, sig = 0.001). It is necessary to improve the efficiency of dietary interventions aimed at lowering MetS risk in workers.

Señales aterogénicas tempranas y aterosclerosis subclínica en niños y adolescentes con diagnóstico reciente de prediabetes / Early atherogenic signs and atherosclerosis subclinical in childrenand adolescents with a recent diagnosis of prediabetes

Introducción: el inicio de la prediabetes en edades pediá-tricas se ha convertido en un problema cada vez más frecuente, donde la obesidad juega un papel relevante. Los pacientes con prediabetes en la infancia presentan una alta prevalencia de señales aterogénicas tempranas (SAT), las cuales constituyen factores de riesgo para enfermedad cardiovascular, esto conduce a una alteración precoz de la función endotelial. Objetivo: determinar la asociación entre las SAT detectadas y la aterosclerosis subclínica en niños y adolescentes con diagnóstico reciente de prediabetes. Método: se realizó un estudio descriptivo y transversal con 31 niños y adolescentes entre 5 y 18 años de edad con diagnóstico reciente de prediabetes, atendidos en el Instituto de Endocrinología de Cuba, durante noviembre 2015 a noviembre 2016. Las principales variables estudiadas fueron: edad, sexo, antecedentes patológicos familiares y personales, presencia de obesidad abdominal, tensión arterial, lipidograma, resistencia a la insulina, disfunción endo-telial (DE) y grosor íntima media carotideo (GIMC). Resultados: predominaron los adolescentes, el sexo masculino, los antecedentes familiares de diabetes mellitus tipo 2 y personales de obesidad. La obesidad abdominal, tensión arterial normal, lipidograma normal y resistencia insulínica caracterizaron a los pacientes. Se detectó DE en el 19,3 % de los pacientes y GIMC aumentado en el 58 %. En los pacientes con DE y GIMC aumentado, predominó la obesidad abdominal y la resistencia a la insulina. Conclusiones: desde el momento del diagnóstico de la prediabetes puede existir aterosclerosis subclínica en niños y adolescentes que presentan varias SAT asociadas. (AU)

Introduction: The onset of prediabetes at pediatric ages has become in a frequent problem, where obesity plays a relevant role. Patients with prediabetes in childhood have a high prevalence of early atherogenic signs, wich are risk factors for cardiovascular disease and endothelial dysfunction. Objective: To determine the association between the early atherogenic signs and subclinical atherosclerosis in children and adolescents with a recent diagnosis of prediabetes. Method: A descriptive and cross-sectional study was conducted with 31 children and adolescents between 5 and 18 years of age with recent diagnosis (up to 3 months) of prediabetes, attended at the National Institute of Endocrinology of Cuba from November 2015 to November 2016. The mains variables studied were age, sex, family and personal pathological history, presence of abdominal obesity, blood pressure, lipidograma, insulin resistance, endothelial dysfunction (ED) and carotid intima-media thickness (CIMT). Results: The male adolescents, family history of type 2 diabetes and personal of obesity prevailed. Abdominal obesity, normal blood pressure, normal lipidograma and insulin resistance characterized the patients. ED was detected in 19, 3% of the patients and CIMT increased in 58%. Abdominal obesity and insulin resistance predominated in patients with ED and CIMT increased. Conclusions: From the time of diagnosis of prediabetes there may be subclinical atherosclerosis in children and adolescents with several early atherogenic signs associated.

A Distributed Clustering Algorithm Guided by the Base Station to Extend the Lifetime of Wireless Sensor Networks.

Clustering algorithms are necessary in Wireless Sensor Networks to reduce the energy consumption of the overall nodes. The decision of which nodes are the cluster heads (CHs) greatly affects the network performance. The centralized clustering algorithms rely on a sink or Base Station (BS) to select the CHs. To do so, the BS requires extensive data from the nodes, which sometimes need complex hardware inside each node or a significant number of control messages. Alternatively, the nodes in distributed clustering algorithms decide about which the CHs are by exchanging information among themselves. Both centralized and distributed clustering algorithms usually alternate the nodes playing the role of the CHs to dynamically balance the energy consumption among all the nodes in the network. This paper presents a distributed approach to form the clusters dynamically, but it is occasionally supported by the Base Station. In particular, the Base Station sends three messages during the network lifetime to reconfigure the s k i p value of the network. The s k i p , which stands out as the number of rounds in which the same CHs are kept, is adapted to the network status in this way. At the beginning of each group of rounds, the nodes decide about their convenience to become a CH according to a fuzzy-logic system. As a novelty, the fuzzy controller is as a Tagaki-Sugeno-Kang model and not a Mandami-one as other previous proposals. The clustering algorithm has been tested in a wide set of scenarios, and it has been compared with other representative centralized and distributed fuzzy-logic based algorithms. The simulation results demonstrate that the proposed clustering method is able to extend the network operability.

Compliance and Adherence to Enteral Nutrition Treatment in Adults: A Systematic Review.

OBJECTIVE: To review the scientific literature that has verified and/or assessed compliance and adherence to enteral nutrition (EN) in adult patients. METHOD: This study involved a critical analysis of articles retrieved from MEDLINE (PubMed), The Cochrane Library, Embase, Scopus and Web of Science using the terms "Treatment Adherence and Compliance" and "Enteral Nutrition", applying the filters "Comparative Study" or "Clinical Trial", "Humans" and "Adults". Date of the search: 25 October 2018. RESULTS: A total of 512 references were retrieved, of which 23 documents were selected after applying the inclusion and exclusion criteria. The techniques measuring adherence to EN were determined by dietary intake, self-reporting, counts of leftover containers or presence of complications; however, in no case were validated questionnaires used. The time and periodicity of the assessment presented very heterogeneous results, with measurement predominantly being done at the beginning and at the end of the study. The best adherence rates were obtained in hospitalized patients (approximately 80%). CONCLUSIONS: Frequent and regular monitoring of the adherence of patients under prolonged treatment with EN is necessary, and the use of measurement techniques that allow obtaining information on the causes of non-adherence facilitates early interventions to optimize treatment outcomes. Patient and/or caregiver education in the management of EN and the intervention of the community pharmacy in monitoring patients can be key to improving the adherence to EN.

A New Centralized Clustering Algorithm for Wireless Sensor Networks.

Clustering is presently one of the main routing techniques employed in randomly deployed wireless sensor networks. This paper describes a novel centralized unequal clustering method for wireless sensor networks. The goals of the algorithm are to prolong the network lifetime and increase the reliability of the network while not compromising the data transmission. In the proposed method, the Base Station decides on the cluster heads according to the best scores obtained from a Type-2 Fuzzy system. The input parameters of the fuzzy system are estimated by the base station or gathered from the network with a careful design that reduces the control message exchange. The whole network is controlled by the base station in a rounds-based schedule that alternates rounds when the base station elects cluster heads, with other rounds in which the cluster heads previously elected, gather data from their contributing nodes and forward them to the base station. The setting of the number of rounds in which the Base Station keeps the same set of cluster heads is another contribution of the present paper. The results show significant improvements achieved by the proposal when compared to other current clustering methods.

Botulinum toxin type A in the treatment of Raynaud's phenomenon: A three-year follow-up study.

OBJECTIVE: Raynaud's phenomenon consists of vasospastic disease of the digital arteries after exposure to cold or stress. It causes an important reduction in the patient's quality of life when severe. The available treatments do not always offer favorable results. METHODS: A 3-year retrospective study was presented. A total of 15 patients with severe Raynaud's phenomenon who required infiltration with botulinum toxin type A participated in the study. In the first and follow-up visits (30 min, 7 days, 3 months, 6 months, and annual), the overall response by the patient was assessed as was the reduction in the number of weekly episodes of Raynaud's phenomenon, improvement in pain by means of the Visual Analogue Scale, and resolution of ulcers and necrosis as efficacy variables. RESULTS: A total of 15 patients were included in the study. After 30 min of infiltration, the immediate results showed a very good perception of response in four patients. After 1 month of treatment, eight patients had obtained and maintained a very good response, persisting throughout the study. A statistically significant reduction in pain was obtained, as well as the number of weekly episodes of Raynaud's phenomenon. Of the seven patients with basal ulcers, five were completely healed at 3 months. Of the patients, 64.3% showed an overall satisfaction level of >8 at the end of treatment. No serious adverse events were observed. CONCLUSION: Botulinum toxin is a useful treatment for severe Raynaud's phenomenon that is generally well tolerated. Its mechanism of action is not based exclusively on vasodilation. Further studies are necessary to define the ideal patient for this treatment, the most appropriate method of administration, and the number of units and frequency of the infiltrations.

Guía metodológica para la autoevaluación de la calidad institucional en una Facultad de Enfermería / Methodological Guidelines for Institutional Quality Self-Assessment in a Nursing School

Introducción: Las instituciones de educación superior que forman recursos humanos para la salud, se esfuerzan por perfeccionar los perfiles de egreso en armonía con las necesidades de la población. Mientras, se incrementan los cuestionamientos a la calidad académica, como producto de las relaciones de poder entre el mercado y el estado. La Facultad de Enfermería es el único centro estatal responsable de la formación de grado y posgrado. Disponer de una tecnología para la autoevaluación de la calidad institucional, podría impactar en la mejora de las funciones universitarias y en la misión social. Objetivos: Diseñar una guía metodológica para implementar el proceso de autoevaluación de la calidad institucional y validar la misma, para desarrollar un proceso sistemático y confiable. Métodos: Consistió en un proyecto de desarrollo tecnológico. El diseño preliminar fue ajustado en función de la consulta a expertos y las mediciones de los coeficientes de Alfa de Cronbach y correlación de Pearson. Se implementó una prueba de autoevaluación mediante la técnica de informantes clave. Resultados: La opinión de los expertos fue favorable para la totalidad de los contenidos. Las pruebas estadísticas demostraron un alto índice de consistencia interna y confiabilidad. El diseño obtenido, integró las pautas universitarias establecidas y las particularidades del servicio. Las recomendaciones se orientaron a mejorar la información disponible y formalizar una metodología participativa. Conclusiones: El diseño de la guía fue validado y permitió un autoconocimiento de la calidad institucional con mayor rigurosidad científica. Se identificaron limitaciones en la fase de intercambio entre los evaluadores(AU)

Introduction: Higher education institutions that train human resources in health strive to improve graduation profiles in harmony with the population needs. Meanwhile, the questioning increases for academic quality, as a product of power relations between the market and the state. The School of Nursing is the only state-run center responsible for undergraduate and postgraduate training. Having a technology for the self-evaluation of institutional quality could have an impact on the improvement of the functions and social mission of the university. Objectives: To design methodological guidelines for implementing the process of self-assessment of institutional quality and to validate it, in order to develop a systematic and reliable process. Methods: This consisted in a technological development project. The preliminary design was adjusted based on expert consultation and measurements of the Cronbach's Alpha coefficients and Pearson's correlation. A self-assessment test was implemented using the key informant technique. Results: The opinion of the experts was favorable for all the contents. The statistical tests showed a high index of internal consistency and reliability. The design obtained integrated the established university guidelines and the service particularities. The recommendations were aimed at improving the available information and at formalizing a participatory methodology. Conclusions: The design of the guidelines was validated and allowed a self-knowledge about institutional quality with greater scientific rigor. Limitations were identified in the exchange phase between the evaluators(AU)

Escolaridad materna y estrato socioeconómico según el estado nutricional de preescolares evaluados en guarderías

Introducción: La problemática del elevado índice de malnutrición a nivel mundial se relaciona con factores causales comunes relacionados con la escolaridad materna, que junto con el estrato socioeconómico, podrían influir en la nutrición de los niños/as sobre todo aquellos que se encuentran en edad preescolar. Objetivo: Evaluar la escolaridad y el estrato socioeconómico maternos según el estado nutricional de preescolares. Materiales y Métodos: Se llevó a cabo un estudio observacional analítico de corte transversal. Fueron evaluados por antropometría, según criterios de la OMS, 82 niños/as en edad preescolar y se aplicaron encuestas a sus respectivas madres. Resultados: Según el indicador de Peso/Talla, 57,31% de los preescolares presentó estado nutricional adecuado (entre -1 y+1 DE), 29,3% sobrepeso (entre +1 y+2 DE) y 7,31% obesidad (por encima de +2 DE). El 6,1% presentó riesgo de desnutrición (entre -1 DE y -2 DE). En cuanto al indicador Talla/Edad, el 87,8% presentó talla adecuada (por encima de -1 DE), 11% riesgo de talla baja (entre -1 DE y -2 DE) y 1,22% talla baja (por debajo de -2 DE). Al comparar las medianas de los años de escolaridad materna según el estado nutricional de los hijos/as (18, 15, 14 y 13,5), no se encontraron diferencias significativas entre los grupos (p=0,247 Kruskal Wallis) y al comparar las medianas de los puntajes de la estratificación socioeconómica según el estado nutricional de los preescolares (7, 15 y 10,5), se encontraron diferencias significativas entre los grupos (p=0,023 Kruskal Wallis). Conclusiones: Más de la mitad de los preescolares presentó estado nutricional adecuado y talla adecuada. No se encontraron diferencias entre los años de escolaridad materna según el estado nutricional de los preescolares pero sí entre los puntajes de estratificación económica.

Introduction: The problem of the high rate of malnutrition worldwide is related to common causal factors related to maternal education, along with socioeconomic status, they could influence the nutrition of children, especially those who are in preschool. Objective: To evaluate maternal education and socioeconomic status as the nutritional status of preschool children. Materials and Methods: An analytical observational cross-sectional study was conducted. 82 children were evaluated by anthropometry, according to WHO criteria and surveys were applied to their respective mothers. Results: According to the indicator Weight/Height, 57.31% of preschool children presented adequate nutritional status (between -1 y+1 SD), 29.3% overweight (between +1 y+2 SD) and 7.31% obesity (above +2SD). Moreover, 6.1% presented risk of malnutrition (between -1 DE y -2 SD). For the indicator Height/Age, 87.8% had adequate size (above - 1 SD), 11% risk of low height (between -1 DE y -2 SD) and 1.22% presented low height (under -2 SD). When comparing the medians of the years of maternal schooling according to the nutritional status of (18, 15, 14 and 13.5), no significant differences between groups were found (p=0.247 Kruskal Wallis) and comparing medians of the socioeconomic stratification scores according to the nutritional status of preschool children (7, 15 and 10.5), significant differences between groups were found (p=0.023 Kruskal Wallis). Conclusions: More than half of preschool children presented adequate nutritional status and adequate height. No differences between maternal schooling were found according to the nutritional status of preschoolers but it did among economic stratification scores.

Promoting wired links in wireless mesh networks: an efficient engineering solution.

Wireless Mesh Networks (WMNs) cannot completely guarantee good performance of traffic sources such as video streaming. To improve the network performance, this study proposes an efficient engineering solution named Wireless-to-Ethernet-Mesh-Portal-Passageway (WEMPP) that allows effective use of wired communication in WMNs. WEMPP permits transmitting data through wired and stable paths even when the destination is in the same network as the source (Intra-traffic). Tested with four popular routing protocols (Optimized Link State Routing or OLSR as a proactive protocol, Dynamic MANET On-demand or DYMO as a reactive protocol, DYMO with spanning tree ability and HWMP), WEMPP considerably decreases the end-to-end delay, jitter, contentions and interferences on nodes, even when the network size or density varies. WEMPP is also cost-effective and increases the network throughput. Moreover, in contrast to solutions proposed by previous studies, WEMPP is easily implemented by modifying the firmware of the actual Ethernet hardware without altering the routing protocols and/or the functionality of the IP/MAC/Upper layers. In fact, there is no need for modifying the functionalities of other mesh components in order to work with WEMPPs. The results of this study show that WEMPP significantly increases the performance of all routing protocols, thus leading to better video quality on nodes.

MATIN: a random network coding based framework for high quality peer-to-peer live video streaming.

In recent years, Random Network Coding (RNC) has emerged as a promising solution for efficient Peer-to-Peer (P2P) video multicasting over the Internet. This probably refers to this fact that RNC noticeably increases the error resiliency and throughput of the network. However, high transmission overhead arising from sending large coefficients vector as header has been the most important challenge of the RNC. Moreover, due to employing the Gauss-Jordan elimination method, considerable computational complexity can be imposed on peers in decoding the encoded blocks and checking linear dependency among the coefficients vectors. In order to address these challenges, this study introduces MATIN which is a random network coding based framework for efficient P2P video streaming. The MATIN includes a novel coefficients matrix generation method so that there is no linear dependency in the generated coefficients matrix. Using the proposed framework, each peer encapsulates one instead of n coefficients entries into the generated encoded packet which results in very low transmission overhead. It is also possible to obtain the inverted coefficients matrix using a bit number of simple arithmetic operations. In this regard, peers sustain very low computational complexities. As a result, the MATIN permits random network coding to be more efficient in P2P video streaming systems. The results obtained from simulation using OMNET++ show that it substantially outperforms the RNC which uses the Gauss-Jordan elimination method by providing better video quality on peers in terms of the four important performance metrics including video distortion, dependency distortion, End-to-End delay and Initial Startup delay.

Post-bone-marrow-transplant leukemia cutis.

Granulocytic sarcoma or chloroma is a tumor of immature cells from the granulocyte line that is generally associated with acute myeloid leukemia. The skin is one of the most affected organs. This lesion may complicate hematological dyscrasias, which is generally indicative of a poor prognosis. We present a case of a 51-year-old patient who was diagnosed with acute myeloid leukemia with a complex karyotype that debuted with a post-transplant cutaneous and hematological relapse, a very rare occurrence in the literature given that no extramedullary involvement was present prior to the transplant.

Routing protocols in wireless sensor networks.

The applications of wireless sensor networks comprise a wide variety of scenarios. In most of them, the network is composed of a significant number of nodes deployed in an extensive area in which not all nodes are directly connected. Then, the data exchange is supported by multihop communications. Routing protocols are in charge of discovering and maintaining the routes in the network. However, the appropriateness of a particular routing protocol mainly depends on the capabilities of the nodes and on the application requirements. This paper presents a review of the main routing protocols proposed for wireless sensor networks. Additionally, the paper includes the efforts carried out by Spanish universities on developing optimization techniques in the area of routing protocols for wireless sensor networks.

Enfermedad de Darier: presentación de una familia / Darier´s disease presentation of a family

La Enfermedad de Darier es un trastorno autonómico dominante, por queratinización alterada de la epidermis, uñas y mucosas. Se caracteriza clínicamente por la presencia de lesiones papuloqueratósicas, principalmente foliculares que predominan en zonas seborreicas. Se presenta una familia que sigue este patrón de herencia con casos referidos y dos confirmados por la clínica y la histología con expresividad muy similar en sus características clínicas y evolución tórpida con cuadros de agudización frecuente. Caso 1- ROB (III-11), de 45 años de edad y el caso 2- DOR (IV- 8) de 14 años de edad, tratándose de padre e hija. Se realiza revisión bibliográfica de la entidad(AU)

Darier´s disease is a dominant autosomal disorder, by altered keratinization of the epidermis, nails and mucosa; it is clinically characterized by the presence of papulokeratotic lesions, mainly folliculars, that predominate in seborrhoeic zones. It was presented a family that have followed this heritage model with refered cases and two confirmed by the clinic and the histology with very similar expressions in the clinical characteristics and torpid evolution with symptoms of frequent aggravated symptoms. Case 1 ROB (lll-11) of 45 years old and the Case 2 DOR (lV-8) of 14 years old, both father and daughter, it was made a bibliographic revision of the entity(AU)

Epidermolisis Bulosa: revisión bibliográfica, 2008 / Bullosa epidermolysis: bibliographical revision, 2008

El término epidermolisis bullosa fue sellado por Köbneren 1886.” La misma engloba un grupo heterogéneo de enfermedades hereditarias raras de la piel por alteraciones en los genes responsables de la formación de la epidermis y dermis. La alteración genética que causa la enfermedad puede ser heredada debido a una mutación genética durante el embarazo (de novo). Se caracteriza por una erupción de ampollas en la piel de forma espontánea o por traumatismos mínimos, ampollas que al romperse pueden producir lesiones hemorrágicas. Los enfermos de epidermólisis bullosa tienen la piel tan frágil como las alas de una mariposa, por eso los niños que la padecen son conocidos como niños mariposa.(AU)

Síndrome de Mckay: presentación de casos

Se realiza un estudio prospectivo de carácter descriptivo-observacional a 7 pacientes de una familia diagnosticada como síndrome de McKay en el Centro de Retinosis Pigmentaria de Bayamo. Mediante biometría detectamos ojos con 34 milímetros de longitud, un fondo típico de papila pálida, pigmentos en espículas óseas máculas atróficas y vasos exangües. El ángulo irido-cornial fue estrecho, grado I, así como la agudeza visual se encontró entre 0,04 y 0,3 con Electroretinograma extinguidos y subnormales. Los pacientes tratados con iridotomía láser mantuvieron la estabilidad de la agudeza visual. La herencia fue autonómica recesiva(AU)

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D.

Usher syndrome (USH) is a group of autosomal recessive sensory disorders characterized by progressive retinitis pigmentosa (RP) and sensorineural hearing impairment. Usher syndrome type 1 (USH1), with additional vestibular dysfunction, represents the most severe form and shows extensive allelic and non-allelic heterogeneity. At least six USH1 loci exist (USH1A-F), and four of the underlying genes have been identified. Recently, a novel gene, cadherin 23 (CDH23), was shown to be mutated in USH1D. We performed mutation screening by single strand conformation polymorphism (SSCP) analysis and direct sequencing on 33 USH1 patients previously excluded for USH1B and USH1C. On eight disease alleles of four patients, four different mutations were identified, three of them novel (c.6933delT, c.5712G-->A, and IVS45-9G-->A). Exon trapping experiments were performed with two mutations. In the case of a c.5712G-->A transition of the last base of exon 42, that is an apparently synonymous mutation, skipping of exon 42 was observed. By the mutation IVS45-9G-->A, a novel splice acceptor site was created and the insertion of 7 intronic bp was observed. Two mutations, IVS45-9G-->A and the previously described IVS51+5G-->A, were each found in more than one patient. Haplotype analysis by SNPs within CDH23 suggests common ancestors for each of the mutations. Among the total of 52 USH1 cases studied by us, CDH23 mutations account for about 10% of all disease alleles. Our results further suggest that in patients with a typical USH1D phenotype, a significant portion of CDH23 mutations leads to premature termination of translation or loss of numerous amino acid residues, with a high frequency of changes causing aberrant splicing of CDH23 mRNA.

Epidemiología de las Cardiopatías Congénitas en la provincia Granma, 1990-1999 / Epidemiology of congenital cardiopathy in Granma Province, 1990-1999

Las cardiopatías congénitas constituyen nuestra primera causa de muerte por anomalías y un serio problema de salud, no sólo para el diagnóstico de las mismas pre y postnatal sino también desde el punto de vista terapéutico; con el objetivo de conocer su comportamiento epidemiológico en la provincia Granma se estudiaron los fallecidos menores de un año por esta causa y las interrupciones de embarazo en los servicios de Genética en el período 1990-1999. Se analizó la edad materna, encontrando la mayor frecuencia en el grupo de madres menores de 20 años. Los municipios que se destacaron fueron Guisa y Bartolomé Masó. El defecto septal ventricular resultó ser el tipo cardiopatía más común. La frecuencia de base para las anomalías cardiovasculares en nuestra provincia es de 11,9 x 10000 nacidos vivos y la tendencia de la mortalidad muestra un sentido decreciente(AU)

Síndrome de Freeman-Sheldon. Revisión bibliográfica / Freeman-Sheldon syndrome. A bibliographic review

Se realiza una revisión bibliográfica actualizada sobre las peculiaridades clínicas de la displasia craneocarpotarsal o síndrome de Freeman-Sheldon. Los hallazgos característicos de este síndrome se presentan en el nacimiento, con predominio de anomalías musculoesqueléticas, cuyos signos relevantes fueron la microstomía, la hipoplasia del tercio medio de la cara y el surco en forma de H en el mentón, signo patognómico. El diagnóstico de esta afección se efectúa por los hallazgos faciales y de los miembros; de mucha utilidad resultaron los estudios radiográficos de cráneo, la biopsia del músculo buccinador y los estudios electromiográficos. El tratamiento quirúrgico se indica para mejorar la apariencia facial y la función de las manos y de los pies. Se profundiza en los aspectos clínicos, diagnóstico y terapéuticos de esta enfermedad

Caracterización Clínico-Genética de la Enfermedad Norrie en Cuba

Se presenta el primer reporte de un estudio descriptivo y prospectivo realizado en una familia de la provincia Granma, afectada por la enfermedad Norrie, que incluye la caracterización clínico-genética de la misma. Se identificaron 46 varones afectados entre fallecidos y vivos, de estos últimos se examinaron 18, aparecen 21 portadores obligados y 44 probables, confirmándose en este grupo 13 portadores del gen por estudios moleculares, lo que demuestra el carácter recesivo ligado al cromosoma X de este desorden donde predomina la ceguera al nacimiento presente en el 44,4 de nuestros casos, además el retraso mental y la sordera sensorineural, ambos en el 64,4 por ciento de los pacientes, junto a manifestaciones extrapiramedales y otros signos dismórficos no descritos antes. En el laboratorio de Genética Molecular de la Universidad de Hamburgo, en Alemania se determinó el defecto genético primario como una nueva mutación sin sentido, dada por una transversión T 454 G en el axón II del gen de Norrie que produce un cambio Leucina a Arginina (Leu. 13 Arg) en la proteína de Norrie.(AU)