Reporte de Caso: Gerodermia Osteodisplástica en Panamá

RESUMEN: La gerodermia osteodisplástica (GO) es un trastorno genético poco frecuente de carácter autosómico recesivo dentro de los trastornos de cutis laxa, caracterizado por una piel laxa y arrugada, osteoporosis que lleva a fracturas espontáneas, luxación de cadera congénito, laxitud de articulaciones, signos de progeria, retraso del desarrollo y discapacidad intelectual. Esta es una condición causada por mutaciones genéticas en el gen GORAB (1q24.2). Presentamos el caso de una lactante menor de 3 meses de edad, con un fenotipo característico de esta condición, piel laxa y arrugada, especialmente en sus manos y pies, además de una luxación de rodilla. Se le realizó un panel genético para colagenopatías, que identificó una alteración en el gen GORAB confirmando el diagnóstico de Gerodermia osteodisplástica.   (provisto por Infomedic International)

ABSTRACT: Gerodermia osteodysplastica (GO) is a rare genetic disease in which the inheritance is autosomal recessive within Cutis laxa disorders, it is characterized by a lax and wrinkled skin, osteoporosis leading to spontaneous fractures, congenital dislocation of the hips, hyperextensible joints, progeroid features, developmental delay and intellectual deficit. This is a condition caused by genetic mutations in the GORAB gene (1q24.2). We present the case of a 3-month-old infant with the typical phenotype of this condition, lax and wrinkled skin, specially the hands and feet, in addition to a knee dislocation. A panel testing for connective tissue disorders was performed, which identified an alteration in the GORAB gene, confirming the diagnosis de Gerodermia osteodysplastica. (provided by Infomedic International)

Adaptation of a Standard Method for Water Absorption Testing of Stone Materials: The Case of a Hydrophilic Protective Coating.

The historical stone heritage that we inherit must be passed on to future generations, not only in the same conditions that we found it but, if possible, in better ones. Construction also demands better and more durable materials, often stone. The protection of these materials requires knowledge of the types of rocks and their physical properties. The characterization of these properties is often standardized to ensure the quality and reproducibility of the protocols. These must be approved by entities whose purpose is to improve the quality and competitiveness of companies and to protect the environment. Standardized water absorption tests could be envisaged to test the effectiveness of certain coatings in protecting natural stone against water penetration, but we found that some steps of these protocols neglect any surface modification of the stones, and hence may not be completely effective when a hydrophilic protective coating (i.e., graphene oxide) is present. In this work, we analyze the UNE 13755/2008 standard for water absorption and propose alternative steps to adapt the norm for use with coated stones. The properties of coated stones may invalidate the interpretation of the results if the standard protocol is applied as is, so here we pay special attention to the characteristics of the coating applied, the type of water used for the test, the materials used, and the intrinsic heterogeneity of the specimens.

Deformidad de Madelung: presentación de un caso / Madelung deformity: a case presentation

La deformidad de Madelung es una alteración poco común de la articulación de las muñecas. Se vincula a mutaciones del gen SHOX y se caracteriza por alteraciones en el radio, carpo y cúbito, con predominio bilateral. Afecta principalmente a pacientes de sexo femenino y aparece al inicio de la adolescencia. Se presenta una paciente de 15 años de edad, con antecedentes de problemas de salud. Al entrar en la adolescencia comenzó a presentar deformidad en ambas muñecas, más marcada en el lado derecho acompañado de dolor. El diagnóstico de deformidad de Madelung se concluyó mediante la clínica asociado a la positividad de los estudios imagenológicos, basados en los criterios radiográficos de Dannenberg y otros. Se decidió tratamiento quirúrgico, mediante osteotomía doble correctora para longitud y fijación externa de la mano derecha, con la resolución completa de la deformidad y seguimiento en la Consulta Externa de Ortopedia(AU)

Madelung's deformity is a rare alteration of the wrist joint. It is linked to mutations of the SHOX gene. It is characterized by alterations in the radius, carpus and ulna, predominantly bilateral. It mainly affects female patients; signs and symptoms are evident at the beginning of adolescence. To present a case of a patient with a diagnosis of Madelung deformity. The case of a 15-year-old female patient with a health history and family history of interest of an equine clubfoot father is presented. When she entered adolescence, she began to present deformity in both wrists, more marked in the right side accompanied by pain. This is a patient with a Madelung deformity. The diagnosis was concluded by the clinic associated with the positivity of the imaging studies(AU)

Prevalence of UGT1A1 (TA)n promoter polymorphism in Panamanians neonates with G6PD deficiency.

A relationship between the polymorphism in promoter region of the UGT1A1 gene and the development of jaundice has been demonstrated recently. This polymorphism leads to 30% of normal rate transcription initiation of UGT1A1 gene, thus decreasing the bilirubin glucuronidation. The combination of the G6PD deficiency and polymorphism in neonates and adults may causepronounced hyperbilirubinaemias. The aim of this study was to analyse the variations in the UGT1A1 gene promoter in Panamanians neonates with G6PD deficiency and its association with neonatal jaundice (NJ). We identified five different genotypes of TA repeats, in 17 neonates (42.5%) the normal variant TA6/TA6 and in the other 57.5% of the subjects: TA7/TA7 (12.5%), TA6/TA7 (40%), TA6/TA8 (2.5%) and TA6/TA5 (2.5%). Additionally 75% of the 16 newborns that showed NJ had an abnormal variant in the promotersequence, although, there was no significant difference (P = 0.068). The risk of jaundice in neonates with TA7 variant was thrice higher in subjects than with other alleles (P = 0.093, CI: 0.81-11.67). The TA7 allele frequency in this study (0.325) was consistent with the global frequency and similar to Caucasians. The results proved that there is no significant relationship between promoter polymorphism in UGT1A1 and NJ in G6PD deficient Panamanian newborns. Further studies with a greater number of subjects would determine the exact relationship between marked NJ and UGT1A promoter variations.

Diseño de un sistema de vigilancia epidemiológica hospitalaria pospandemia

RESUMEN Introducción: El desescalamiento de las medidas para controlar la epidemia por la COVID-19 en Cuba no exonera la vigilancia permanente para evitar rebrotes. Objetivo: Mostrar el diseño de un sistema de vigilancia epidemiológica hospitalaria para la detección precoz de casos sospechosos en la etapa pos COVID-19. Métodos: Investigación cualitativa. Se localizó información en las bases de datos Lilacs, Ebsco e Hinari con los descriptores: vigilancia en salud, monitoreo epidemiológico y servicios de vigilancia epidemiológica. A partir de las definiciones de casos objeto de vigilancia, se definieron los objetivos del sistema, premisas, atributos y subsistemas. Se tuvo en cuenta la metodología utilizada en un sistema de vigilancia en Cuba desarrollado y modificado por especialistas cubanos. Resultados: El sistema se estructura a partir de cuatro componentes: entrada de datos, procesamiento de los datos obtenidos de encuestas epidemiológicas aplicadas a pacientes y acompañantes, salida de la información con la descripción del tipo de caso y retroalimentación; está conformado por cuatro subsistemas: Diagnóstico Clínico, de Laboratorio, Epidemiológico y Estadístico. El sistema ha detectado precozmente casos sospechosos en pacientes hospitalizados, previo a la intervención quirúrgica y a otros procederes mínimos invasivos. Conclusiones: Se muestra el diseño de un sistema de vigilancia epidemiológica hospitalaria, como herramienta de trabajo, conformado por cuatro subsistemas para obtener los datos que facilitan la detección precoz de casos sospechosos de COVID-19 y su confirmación y establecer acciones de prevención y control del riesgo tanto para el Centro Nacional de Cirugía de Mínimo Acceso como para las organizaciones involucradas

ABSTRACT Introduction: Cuba prepares for recovery and for keeping the COVID-19 epidemic under control in the national territory. Gradual de-escalation of measures until getting into the new normal does not exempt permanent surveillance to avoid new outbreaks. Objective: Show the procedure used in the design of a hospital epidemiological surveillance´s system for the early detection of suspected cases in the pos-COVID-19 stage. Methods: Qualitative research. It was located information in the databases Lilacs, Ebsco and Hinari with the descriptors: health surveillance, epidemiological monitoring, and services of epidemiological surveillance. From the definition of cases under surveillance, there were defined the objectives of the system, premises, attributes and subsystems. It was taken into account the methodology used in a surveillance system in Cuba which was developed and modified by Cuban specialists. Results: The system is structured from four components: data entry, processing of data collected in epidemiological surveys applied to patients and their companions, and data output with the description of the type of case and feedback. This is also formed by four subsystems: clinical diagnosis, laboratory diagnosis, epidemiological diagnosis and statistical diagnosis. The system has early detected suspicious cases in hospitalized patients before surgical interventions and other minimal invasive procedures. Conclusions: A hospital epidemiological surveillance system is designed as a working tool for obtaining information that facilitates the early detection of COVID-19 suspected cases and their confirmation, and to establish risk prevention and control actions for both the National Center of Minimal Access Surgery and the organizations involved.

Muscle Strength and Aerobic Capacity in HIV-Infected Patients: A Systematic Review and Meta-Analysis.

BACKGROUND: Physical impairment is highly prevalent in HIV-infected patients. We conducted a systematic review of published studies that included studies comparing muscle function in HIV-infected patients to matched healthy controls, and studies comparing aerobic capacity in HIV-infected patients with that observed in matched healthy controls. DESIGN: Systematic review and meta-analysis. METHODS: We searched for references on MEDLINE, SciELO, Cumulative Index to Nursing and Allied Health (CINAHL), and Scopus up to December 2017. Weighted mean differences and 95% confidence intervals (CIs) were calculated, and heterogeneity was assessed using the I test. RESULTS: A total of 30 studies, covering 2148 healthy controls and 2161 HIV-infected patients, fulfilled the inclusion criteria. The average muscle strength and aerobic capacity were significantly lower in HIV-infected patients. Meta-analysis revealed moderate-quality evidence of weaker muscle strength and aerobic capacity in HIV-infected patients. A significant difference in lower-body strength of 1.07 (95% CI: 0.29 to 1.84) was found for participants in the healthy control group compared with HIV group. A significant difference in aerobic capacity (peak VO2) of 8.4 (95% CI: 4.8 to 12.0) was found for participants in the healthy control group compared with HIV group. CONCLUSIONS: Muscle strength and aerobic capacity of HIV-infected patients are reduced in comparison with healthy controls. Additional studies are needed to define the best interventions to improve the physical function in HIV-infected patients.

A relação entre clima organizacional e gestão do conhecimento: uma revisão da literatura / The relationship between organizational climate and knowledge management: a review of the literature / La relación entre clima organizacional y gestión del conocimiento: revisión de la literatura

O propósito deste estudo foi analisar a relação entre Clima Organizacional (CO) e Gestão do Conhecimento (GC) partindo da revisão sistemática da literatura. A pesquisa bibliográfica foi realizada nas bases de dados Web of Science e Scopus, por meio dos descritores "organizational climate" e "knowledge management". Os resultados mostraram uma relação entre os termos nos diversos sistemas de produção (bens e serviços), não foram encontrados estudos dessa relação em países em desenvolvimento, nem no Brasil. Há um consenso na literatura, que aponta que o CO favorável (analisando variáveis como motivação, satisfação, comunicação, liderança, entre outros) promove benefícios sobre a GC e vice-versa. Estudos futuros devem analisar as relações entre fatores do CO e a GC: por exemplo, os fatores motivadores e as barreiras à intenção de partilhar o conhecimento avaliando os ambientes de trabalho, por meio de instrumentos de pesquisas e rigorosas análises de correlação. Estudar como as variáveis de CO e GC se relacionam em diferentes contextos e culturas.

The purpose of this study was to analyze the relationship between Organizational Climate (OC) and Knowledge Management (KM) based on systematic review of the literature in the Web of Science and Scopus databases, using the descriptors "organizational climate" and "knowledge management". The results showed a relationship between the terms, and no studies of this relationship were found in developing countries, nor in Brazil. There is a consensus in the literature, which points out that a favorable OC promotes benefits regarding KM and vice versa. Future studies should analyze relationships between OC and KM factors, for example, motivating factors and barriers to the intention to share knowledge, by evaluating work environments through research tools and rigorous correlation analyses. Also, study is needed on how OC and KM variables are related in different contexts and cultures.

El propósito de este estudio es analizar la relación entre Clima Organizacional (CO) y Gestión del Conocimiento (GC) a partir de la revisión sistemática de la literatura en las bases de datos Web of Science y Scopus, y por medio de los descriptores "organizational climate" and "knowledge management". Los resultados mostraron una relación entre estos términos y que noexisten estudios de esta relación en países en desarrollo, ni en Brasil. En la literatura hay un consenso que indica que el CO favorable promueve beneficios en la GC y viceversa. Los estudios futuros deben examinar las relaciones entre los factores CO y GC: por ejemplo, elementos motivadores y barreras a la intención de compartir conocimientos, evaluando los ambientes de trabajo a través de instrumentos de investigación y rigurosos análisis de correlación. Estudiar cómo las variables de CO y GC se relacionan en diferentes contextos y culturas.

Development of T-cell immunotherapy for hematopoietic stem cell transplantation recipients at risk of leukemia relapse.

Leukemia relapse remains the major cause of allogeneic hematopoietic stem cell transplantation (HCT) failure, and the prognosis for patients with post-HCT relapse is poor. There is compelling evidence that potent selective antileukemic effects can be delivered by donor T cells specific for particular minor histocompatibility (H) antigens. Thus, T-cell receptors (TCRs) isolated from minor H antigen-specific T cells represent an untapped resource for developing targeted T-cell immunotherapy to manage post-HCT leukemic relapse. Recognizing that several elements may be crucial to the efficacy and safety of engineered T-cell immunotherapy, we developed a therapeutic transgene with 4 components: (1) a TCR specific for the hematopoietic-restricted, leukemia-associated minor H antigen, HA-1; (2) a CD8 coreceptor to promote function of the class I-restricted TCR in CD4+ T cells; (3) an inducible caspase 9 safety switch to enable elimination of the HA-1 TCR T cells in case of toxicity; and (4) a CD34-CD20 epitope to facilitate selection of the engineered cell product and tracking of transferred HA-1 TCR T cells. The T-cell product includes HA-1 TCR CD4+ T cells to augment the persistence and function of the HA-1 TCR CD8+ T cells and includes only memory T cells; naive T cells are excluded to limit the potential for alloreactivity mediated by native TCR coexpressed by HA-1 TCR T cells. We describe the development of this unique immunotherapy and demonstrate functional responses to primary leukemia by CD4+ and CD8+ T cells transduced with a lentiviral vector incorporating the HA-1 TCR transgene construct.

Perfil de niños con déficits en la cognición numérica / Profile of Children with Deficits in Numerical Cognition

Resumen La presente investigación tuvo como objetivo caracterizar el perfil neurocognitivo de niños en relación con las habilidades cuantitativas, intelectuales, de memoria operativa y sus aspectos emocionales. La muestra fue de 42 niños de edad escolar de 8 a 10 años, divididos en dos grupos: con dificultades en aritmética (CDA = 21) y sin dificultades en aritmética (SDA = 21), que fueron evaluados a través de pruebas cognitivas y escalas de comportamiento, que analizaron variables como: rendimiento escolar, razonamiento abstracto, memoria operativa, cognición numérica, ansiedad y estrés. El perfil de los niños CDA se caracterizó por dificultades en el rendimiento escolar de forma general. Se encontraron síntomas de estrés compatibles con fases de alerta y resistencia, baja capacidad de memoria operativa y de cognición numérica, específicamente de procesamiento numérico y cálculo.

Abstract This study aimed to characterize the neurocognitive profile of children regarding quantitative, intellectual, and mnemonic skills; and their emotional state. The sample consisted of 42 school children 8-10 years old, divided into two groups: those with difficulties in arithmetic (CDA = 21) and without difficulties in arithmetic (SDA = 21). The children were evaluated through cognitive tests and behaviour scales, which analysed variables such as scholar achievement, abstract reasoning, working memory, numerical cognition, anxiety and stress. The profile of CDA children was characterized by global difficulties in schooling achievement. Also they had stress symptoms compatible with alert and resistance phases, low capacity in working memory and numerical cognition, specifically for numerical processing and calculation.

Coronal microleakage of 3 temporary filling materials used for endodontic treatment: an in vitro study.

Most root canal treatments are performed over multiple appointments. The temporary sealing material used between sessions must have sealing properties capable of preventing microleakage. This study assessed the degree of microleakage of temporary sealing materials according to time spent blocking the access cavity. Endodontic treatments with a standardized protocol were performed on 63 healthy, single-rooted, caries-free human teeth. The teeth were divided randomly into 5 groups. Groups 1-3 were each treated with 1 of 3 sealing materials, while Group 4 and 5 served as positive and negative controls, respectively. Data was obtained and analyzed with nonparametric tests (Kruskal-Wallis and Chi-square). Results indicated statistically significant differences between materials and the degree of microleakage (P = 0.000). All 3 sealing materials allowed microleakage within 48 hours, with glass ionomer cement demonstrating the most microleakage.

Disfunción tiroidea asociada al tratamiento con interferon alfa en pacientes con hepátitis C crónica / Thyroid dysfunction associate to the treatment with interferon alpha in patients with hepatitis C chronic

Durante el tratamiento de la Hepatitis C crónica, el interferón alfa es capaz de inducir disfunción tiroidea con variadas manifestaciones clínicas. El hipotiroidismo es más común que el hipertiroidismo. Se ha descrito también hipertiroidismo seguido por hipotiroidismo. Los síntomas clínicos varían desde ser subclínico hasta mostrar manifestaciones severas de la enfermedad. La disfunción puede persistir después de descontinuar el tratamiento con interferón. Hipotiroidismo es fácilmente controlable con reemplazo con L-thyronina, si es necesario, y la regresión se puede observar luego de omitir el tratamiento con interferón. Los casos de hipertiroidismo deben ser bien evaluados. El desarrollo de anticuerpos anti tiroideos o incremento de los títulos de dichos anticuerpos ha sido observado durante el tratamiento con interferon alfa, sugiriendo la existencia de mecanismo inmunológico para el origen de ésta disfunción. Se necesitan estudios clínicos para aclarar la asociación entre la infección por el virus de la hepatitis C y la autoinmunidad tiroidea, y determinar4 factores de riesgo para el desarrollo de disfunción de ésta glándula durante el tratamiento con interferón

Expression analysis of the Toll-like receptor and TIR domain adaptor families of zebrafish.

The zebrafish genomic sequence database was analysed for the presence of genes encoding members of the Toll-like receptors (TLR) and interleukin receptors (IL-R) and associated adaptor proteins containing a TIR domain. The resulting predictions show the presence of one or more counterparts for the human TLR1, TLR2, TLR3, TLR4, TLR5, TLR7, TLR8, TLR9, IL-1R and IL-18R genes and one copy of the adaptor genes MyD88, MAL, TRIF and SARM. In contrast to data for the pufferfish Fugu rubripes, zebrafish has two genes that are highly similar to human TLR4. In addition, one fish-specific TLR group can be distinguished that is closely related to the Drosophila melanogaster Toll-9 gene. The sequence of cloned cDNAs for TLR4, TLR2 and MyD88 show the same intron-exon organisation as in the human counterparts. Expression analysis using reverse transcriptase-PCR (RT-PCR) shows that 17 of the predicted zebrafish TLR genes and all the genes encoding adaptor proteins are expressed in the adult stage. A subset of the TLR genes are expressed at higher levels in fish infected with the pathogen Mycobacterium marinum. The induced genes include the homologues of the human TLR1 and TLR2 genes, whose functions are associated with mycobacterial infections, underscoring the suitability of zebrafish as a model for analysis of the vertebrate innate immune system.

Disfunción tiroidea asociada al tratamiento con interferon alfa en pacientes con hepatitis C crónica / Dysfuction thyroid asociated the treatment qith interferon alpha in patients with hepatitis C chronic

Durante el tratamiento de la Hepatitis C crónica, el interferón alfa es capaz de inducir disfunción tiroidea con varias manifestaciones clinicas. El hipotiroidismo es más común que el hipertiroideismo. Se ha descrito también hipertoroidismo seguido por hipotiroidismo. Los síntomas clínicos varían desde ser subclínico hasta mostrar manifestaciones severas de la enfermedad. La disfunción puede persistir después de descontinar el tratamiento con interferón. Hipotiroidismo es fácilmente controlable con reemplazo con L-thyronina, si es necesario, y la regresión se puede observar luego de omitir el tratamiento con interferón. Los casos casos de hipertiroidismo deben ser bien evaluados. El desarrollo de anticuerpos anti tiroideos o incremento de títulos de dichos anticuerpos ha sido observado durante el tratamiento con interferón alfa, sugiriendo la existencia de mecanismo inmunológico para aclarar la asociación entre la infección por el virus de la hepatitis C y la autoinmunidad tiroidea, y determinar factores de riesgo para el desarrollo de disfunción de ésta glándula durante el tratamiento con interferón

Uso de prótesis metálicas autoexpansibles en tumores avanzados del tracto gastrointestinal: experiencia con 9 casos: comunicación preliminar / Use of self-expanding metal in tumors advanced of the tracto gastrointestinal: experience with 9 cases: comunication prelimilary

La cirugía puede ofrecer una paliación efectiva a pacientes con obstrucción gastrointestinal causada por lesiones malignas irresecables o metastásicas. Existen otros métodos no quirúrgicos, endoscópicos que pueden dar una paliación efectiva, que incluyen las dilataciones, Nd:YAG laser, fotoablación, electrocoagulación, crioterapia y tratamiento fotodinámico. Todas éstas modalidades son eficaces para restaurar la luz del órgano, pero su efectividad está limitada si se considera que requieren tratamiento repetido que consumen tiempo y aumentan las molestias al paciente, los costos y complicaciones. La inserción endosopica de prótesis metálicas autoexpansibles para restaurar y mantener la luz del tracto gastrointestinal ha sido descrita previamente. Los carcinomas situados en diferentes áreas del sistema han sido tratados por éste método. Aquí reportamos nuestra experiencia con prótesis metálicas autoexpansibles en 9 pacientes inoperables con diferentes tipos de tumores gastrointestinales, las prótesis metálicas autoexpansibles pueden ser consideradas una solución simple y efectiva para paliación a largo plazo de estenosis malignas del tracto gastrointestinal

Hipertensión portal como complicación infrecuente de leishmaniasis visceral: presentación de un caso clínico / Hypertension portal with complication of visceral leishmaniasis: presentation of an case

Se presenta un caso de leishmaniasis visceral complicada con síndrome de hipertensión portal, en una paciente femenina, de 55 años de edad, diabética y desnutrida, con hepatoesplenomegalia leve y pancitopenia severa en qien fue difícil el diagnóstico de leismaniasis visceral. esto se logró en una segunda biopsia de médula ósea, y debido a complicaciones atribuibles a su enfermedad, como el síndrome de hipertensión portal fue necesario sustituir el trataminento con glucantime (100 mg/kg/día) por anfotericina B (0,25mg/kg/día), con una buena evolución