Pseudoxanthoma Elasticum: An Interesting Model to Evaluate Chronic Kidney Disease-Like Vascular Damage without Renal Disease

Background: Pseudoxanthoma elasticum (PXE; OMIM 264800) is an inherited multisystem disorder associated with accumulation of mineralized and fragmented elastic fibers in the skin, vascular walls, and brush membrane in the eye. Carriers exhibit characteristic lesions in the cardiovascular system, and peripheral and coronary arterial disease as well as mitral valvulopathy often present as a cardiovascular feature of this disease. PXE and chronic kidney disease (CKD) share some common patterns in the vascular damage and in therapeutic approaches as well. Summary: To date, treating PXE has focused more on careful follow-up examinations with retinal specialists and cardiologist, avoiding long-term anticoagulation. Like CKD, maintaining a low-calcium diet, increasing dietary magnesium, and administering phosphate binders such as aluminum hydroxide or sevelamer may yield a modest benefit. Recently, 4-phenylbutyrate acid (4-PBA) has demonstrated a maturation of ABCC6 mutant effects into the plasma membrane. Moreover, in a humanized mouse model of PXE, 4-PBA administration restored the physiological function of ABCC6 mutants, resulting in enhanced calcification inhibition and thus a promising strategy for allele-specific therapy of ABCC6-associated calcification disorders. Key Message: Vascular compromise in PXE patients share some components similar to CKD

Síndrome de piel escaldada estafilocócica en un lactante menor: reporte de un caso

El síndrome de piel escaldada estafilocócica es una entidaddescrita por primera vez en 1878 por Ritter Von Rittershainquien la denominó dermatitis exfoliativa neonatal. Esta condiciónpertenece a un grupo de patologías que son ocasionadaspor toxinas producidas por el Staphylococcus aureusconocidas como exfoliatina A y B, que se caracteriza por lesionesampulosas generalizadas con denudación en áreasde gran tamaño. No es una patología común, pero se observacon más frecuencia en recién nacidos y niños menoresde 5 años.El presente estudio describe un caso clínico de un lactantemenor trasladado por su madre al servicio de emergenciaspor un cuadro clínico caracterizado por la aparición de rashgeneralizado y posterior aparición de lesiones vesicularescuya presentación coincidió con el brote de fiebre por virusChikungunya (ChikV) reportado desde junio del 2014 en laciudad de Maracaib

Staphylococcal scalded skin syndrome in an infant: A case report

El síndrome de piel escaldada estafilocócica es una entidad descrita por primera vez en 1878 por Ritter Von Rittershain quien la denominó dermatitis exfoliativa neonatal. Esta condición pertenece a un grupo de patologías que son ocasionadas por toxinas producidas por el Staphylococcus aureus conocidas como exfoliatina A y B, que se caracteriza por lesiones ampulosas generalizadas con denudación en áreas de gran tamaño. No es una patología común, pero se observa con más frecuencia en recién nacidos y niños menores de 5 años. El presente estudio describe un caso clínico de un lactante menor trasladado por su madre al servicio de emergencias por un cuadro clínico caracterizado por la aparición de rash generalizado y posterior aparición de lesiones vesiculares cuya presentación coincidió con el brote de fiebre por virus Chikungunya (ChikV) reportado desde junio del 2014 en la ciudad de Maracaibo.The staphylococcal scalded skin syndrome (SSSS) is an entity first described by Ritter Von Rittershain in 1878 who called neonatal exfoliative dermatitis. This condition belongs to a group of diseases caused by Staphylococcus aureus toxins characterized causing vesicular skin lesions and large denudation areas. SSSS is not a common disease, but it is seen more frequently seen in infants and children less than five years. Its pathophysiological basis is supported on two epidermolitic toxins produced by Staphylococcus aureus known as exfoliatin A and B. The present study describes a clinical case of an infant patient transferred by his mother to the Emergency Service which was characterized by generalized rash and subsequent onset of vesicular lesions whose presentation occurred during Chikungunya fever virus outbreak of (CHIKV) reported since June 2014 in our city, Maracaibo

Stress influence on academic performance

El estrés adquiere influencia en diferentes enfermedades, disminuye el rendimiento laboral y académico, perjudica las relaciones personales y familiares, generando consecuencias que afectan al cuerpo, mente y emociones. Este artículo tiene por objetivo describir la influencia del estrés en el rendimiento académico de estudiantes a nivel universitario. Expertos establecen la importancia de minimizar el estrés analizando sus causas y consecuencias. La presente investigación está desarrollada desde el enfoque cuantitativo y a través del paradigma positivista. El nivel de estrés se midió con la escala creada por Borges y Melgosa, y fue aplicado en estudiantes de psicología y trabajo social de la Universidad Simón Bolívar sede Cúcuta. La administración del cuestionario se llevó a cabo en estudiantes de ambos sexos, con edades comprendidas entre 18 y 24 años, que asistían a la jornada nocturna del segundo y cuarto semestre académico. El análisis y la interpretación de información fueron realizados mediante el paquete estadístico SPSS. Se concluye que el estrés influye en diferentes aspectos de la vida, especialmente en el rendimiento académico.Stress acquires influence in different diseases, decreases work and academic performance, damages personal and family relationships, generating consequences that affect the body, mind and emotions. This article aims to describe the influence of stress on academic performance of higher education students. The importance of minimizing stress is established by experts through the analysis of its causes and consequences. Present research is developed from the quantitative approach and through the positivist paradigm. The stress level was measured with the scale created by Borges and Melgosa, and was applied in students of psychology and social work of the Universidad Simón Bolívar Cúcuta headquarters. The administration of the questionnaire was carried out in students of both genders, aged between 18 and 24 years, who attended the night shift of the second and fourth academic semester. The analysis and interpretation of information was performed with the SPSS software. It is concluded that stress influences different aspects of life, especially in academic performance

Indicadores bibliométricos para investigadores y revistas de impacto en el área de la salud

Las publicaciones científicas en revistas especializadas y losautores evaluados a través de métricas, deben conocer losparámetros y funcionalidad en procesos de indexación y categorización.Este artículo tiene por objetivo presentar argumentosde expertos en la temática, igualmente las institucionesy plataformas en indicadores bibliométricos, la importanciade las redes para la comunidad académica e investigativay científica. La metodología está fundamentada en la revisiónliteraria desde la investigación documental. Se concluye queWos, Scopus y Google Scholar constituyen los principalesíndices y Orcid, Publons y Researchgate las redes para ladivulgación de productos

Seroprevelence of dengue infection in patients from the Endocrine and Metabolic Diseases Research Institute Dr. Félix Gómez, Venezuela

Introducción: El dengue un grave problema de salud pública para Venezuela, una infección viral sistémica, autolimitada y transmitida por mosquitos. En los últimos 50 años, a nivel mundial, aumentó la incidencia 30 veces, con circulación de los cuatro serotipos virales. Objetivo: Determinar la seroprevalencia de anticuerpos IgM e IgG contra el virus del dengue en los pacientes que acuden al Instituto de Investigaciones Endocrino-Metabólicas Dr. Félix Gómez, Venezuela. Materiales y Métodos: Se realizó un estudio descriptivo, transversal, donde fueron incluidos 214 individuos sin discriminación de edad y sexo, a los cuales se les tomó una muestra de sangre por venopunción para determinar anticuerpos IgG e IgM contra el virus del dengue. Resultados: La seroprevalencia en la población estudiada de anticuerpos IgG anti dengue fue de 95,7 %; y de anticuerpos IgM de 21,7%. Conclusión: Se evidenció una alta prevalencia de anticuerpos IgG e IgM en la población estudiada. En todos los grupos de edad se encontraron personas seropositivas para IgM. Es necesario impulsar estrategias multisectoriales para el control de la transmisión del dengue.Introduction: Dengue is a systemic, self-limited and mosqui to-borne viral infection and a serious public health in Venezu ela, In the last 50 years, the worldwide incidence increased 30 times with the four viral serotypes circulation. Objective: To determine the seroprevalence of IgM and IgG antibodies against dengue virus in patients who attend the Endocrine-Metabolic Research Institute Dr. Félix Gómez, Venezuela. Materials and Methods: A descriptive, cross-sectional study was conducted, which included 214 individuals without dis crimination of age and sex, who were taken a blood sample by venipuncture to determine IgG and IgM antibodies against dengue virus. Results: The seroprevalence in the studied population of anti-dengue IgG antibodies was 95.7%; and of 21.7% for IgM antibodies. Conclusion: A high prevalence of IgG and IgM antibodies was evident in the study population. Seropositive people for IgM were found in all age groups. It is necessary to promote multisectoral strategies for the control of dengue transmission

The A54T polymorphism in the FABP2 gene and its relationship with obesity

Introduction: Obesity is a complex, multifactorial, and mostly preventable disease affecting, along with overweight, more than a third of today’s world population. Variations in the nucleotide sequence of both metabolic and appetite control genes have been counted among these non-modifiable factors and are associated with BMI, lipidic profile, and abdominal circumference alterations. Methods: An analytical, non-experimental, and transversal research was done with the purpose to assess the presence of A54T polymorphism in the FABP gene in a sub-sample from the Maracaibo City Metabolic Syndrome Prevalence Study. Results: 154 individuals eight subjects were carriers of the A54Tpolymorphism, namely, a genotypic frequency of 5.19 %, with a sex distribution of 50 % for women (n=4) and 50 % (n=4) for men. In respect of alleles similarity degree, 75 % (n=6) were homozygous, and 25 % (n=2) were heterozygous. Obesity diagnosis throughout BMI was only present in 12.50 % (n=1) of the A54T carriers. Conversely, 25 % (n=2) of the carriers were overweighed; 50 % (n=4) were presented as normal-weight people; and only 12.50 % (n=1), in one underweighted person. Conclusion: As in many other studies, we do not find an association between Ala54Thr polymorphism and obesity. This result reinforces the fact of the multifactorial character of these diseases and a carrier state of this polymorphism is not necessarily to experience a higher obesity risk, at least, in our environment.La obesidad es una enfermedad compleja, multifactorial y en su mayor parte prevenible que afecta, a más de un tercio de la población mundial actual. Las variaciones en la secuencia de nucleótidos de los genes de control del metabolismo y del apetito se consideran hasta ahora como factores no modificables y se asocian con alteraciones del IMC, del perfil lipídico y de la circunferencia abdominal. Métodos: Se realizó una investigación analítica, no experimental y transversal con el propósito de evaluar la presencia del polimorfismo A54T en el gen FABP en una submuestra del Estudio de Prevalencia del Síndrome Metabólico de la Ciudad de Maracaibo. Resultados: De los 154 individuos de la submuestra ocho sujetos fueron portadores del polimorfismo A54T, es decir, una frecuencia genotípica de 5,19 %, con una distribución por sexo de 50 % para las mujeres (n=4) y 50 % (n=4) para los hombres. Con respecto al grado de similitud de los alelos, el 75 % (n=6) eran homocigotos y el 25 % (n=2) heterocigotos. El diagnóstico de obesidad a lo largo del IMC sólo estuvo presente en el 12,50 % (n=1) de los portadores de A54T. Por el contrario, el 25 % (n=2) de los portadores tenían sobrepeso; el 50 % (n=4) se presentaron como personas de peso normal; y sólo el 12,50 % (n=1) en la categoría de peso insuficiente. Conclusión: No se encontró una asociación entre el polimorfismo de Ala54Thr y la obesidad. Este resultado refuerza el carácter multifactorial de estas enfermedades y que un estado portador de este polimorfismo no es causa necesaria para padecer obesidad, al menos, en nuestro medio

Thyroid alterations in type 2 diabetes mellitus

La diabetes mellitus es una de las enfermedades no transmisibles que causa más defunciones a nivel mundial. Cursa con alteraciones en el metabolismo de la glucosa derivadas de la baja disponibilidad de insulina o resistencia a su acción. Estudios recientes indican que hay una relación entre la diabetes mellitus y la disfunción tiroidea, mediada por disturbios en el eje hipotálamo – hipófisis – tiroides, reducción de la actividad deiodinasa, sinergismo de rutas mitogénicas, aumento del estado inflamatorio, el estrés oxidativo y la resistencia a la insulina. La alteración más frecuente es el hipotiroidismo subclínico y se presenta con mayor frecuencia en el sexo femenino por lo que se sugiere realizar periódicamente el perfil tiroideo a estos pacientes. Es necesario que desde la práctica clínica se tengan en cuenta estas implicaciones para brindar un tratamiento oportuno, mejorar complicaciones derivadas como las enfermedades cardiovasculares y disminuir las cifras de morbimortalidad.Diabetes mellitus is one of the world’s leading non-communicable diseases. It leads to alterations in glucose metabolism due to the low availability of insulin or resistance to its action. Recent studies indicate that there is a relationship between diabetes mellitus and thyroid dysfunction, mediated by disturbances in the hypothalamus - pituitary - thyroid axis, and reduced deiodinase activity, synergism of mitogenic routes, increased inflammatory status, oxidative stress and insulin resistance. The most frequent alteration is subclinical hypothyroidism and it occurs more frequently in women, so it is suggested to periodically perform the thyroid profile to these patients. It is necessary that in clinical practice these implications are taken into account in order to provide timely treatment, improve complications such as cardiovascular disease and reduce morbidity and mortality rates

Neprilysin: A Potential Therapeutic Target of Arterial Hypertension?

Arterial hypertension is the most prevalent chronic disease in the adult population of developed countries and it constitutes a significant risk factor in the development of cardiovascular disease, contributing to the emergence of many comorbidities, among which heart failure excels, a clinical syndrome that nowadays represents a major health problem with uncountable hospitalizations and the indolent course of which progressively worsens until quality of life decreases and lastly death occurs prematurely. In the light of this growing menace, each day more efforts are invested in the field of cardiovascular pharmacology, searching for new therapeutic options that allow us to modulate the physiological systems that appear among these pathologies. Therefore, in the later years, the study of natriuretic peptides has become so relevant, which mediate beneficial effects at the cardiovascular level such as diuresis, natriuresis, and decreasing cardiac remodeling; their metabolism is mediated by neprilysin, a metalloproteinase, widely expressed in the human and capable of catalyzing many substrates. The modulation of these functions has been studied by decades, giving room to Sacubitril, the first neprilysin inhibitor, which in conjunction with an angiotensin receptor blocker has provided a high efficacy and tolerability among patients with heart failure, for whom it has already been approved and recommended. Nonetheless, in the matter of arterial hypertension, significant findings have arisen that demonstrate the potential role that it will play among the pharmacological alternatives in the upcoming years

Metabolic Syndrome and Subclinical Hypothyroidism: A Type 2 Diabetes-Dependent Association

Introduction. Subclinical hypothyroidism (ScH) is an endocrine alteration that is related to cardiovascular risk factors, including those categorized as components of the Metabolic Syndrome (MS). However, findings in prior reports regarding an association between these alterations are inconsistent. The purpose of this study was to determine the relationship between both entities in adult subjects from Maracaibo City, Venezuela. Materials and Methods. The Maracaibo City Metabolic Syndrome Prevalence Study is a descriptive, cross-sectional study with random and multistage sampling. In this substudy, 391 individuals of both genders were selected and TSH, free T3, and free T4 tests were performed as well as a complete lipid profile, fasting glycaemia, and insulin blood values. ScH was defined according to the National Health and Nutrition Examination Survey (NHANES) criteria: high TSH (≥4.12mUI/L) and normal free T4 (0.9-1,9 ng/dL) in subjects without personal history of thyroid disease. MS components were defined according to IDF/AHA/NHLBI/WHF/IAS/IASO-2009 criteria. A multiple logistic regression analysis was used to assess the relationship between MS components and ScH diagnosis. Results. Of the evaluated population, 10.5% (n=41) was diagnosed with ScH, with a higher prevalence in women (female: 13.6% versus male: 7.7%; χ2=3.56, p=0.05). Likewise, 56.1% (n=23) of the subjects with ScH were diagnosed with MS (χ2=4.85; p=0.03), being hyperglycemia the main associated criterion (χ2=11.7; p=0.001). In multivariable analysis, it was observed that the relationship was exclusive with the presence of type 2 diabetes mellitus (T2DM) OR: 3.22 (1.14-9.14); p=0.03. Conclusion. The relationship between ScH and MS in our population is dependent on the presence of hyperglycemia, specifically T2DM diagnosis, findings that vary from those previously reported in Latin American subjects