Sistema Regional de Información
en línea para Revistas Científicas de América Latina,
el Caribe, España y Portugal

La osteogénesis imperfecta (OI) es una entidad genética con patrón autosómico dominante, se debe a mutaciones de los cromosomas 7 y 17 por defectos en la formación del colágeno tipo I. Se clasifica en tipos: I, II, III, IV, V, VI, VII, VIII, IX, X, XI y XII. En este artículo se presenta una serie de 20 pacientes con el diagnostico de OI evaluados en la Unidad de Genética Médica de la Universidad de Los Andes (UGM-ULA), Mérida-Venezuela en un período de 5 años (Enero 2007 – Enero 2012). Objetivo: describir los aspectos clínicos y epidemiológicos de los pacientes con diagnóstico de OI evaluados en la UGM-ULA, 2007-2012. Resultados: el tipo más frecuente fue la OI tipo I con 15 casos (75%). Se presentó como caso único en 11 pacientes (55%), siendo la procedencia más común el estado Mérida en 13 (65%). Conclusiones: la OI constituye un grupo de entidades genéticas relativamente frecuentes, en algunos casos letales y en otros muy invalidantes; es necesario difundir el conocimiento de las mismas, para contribuir a mejorar su diagnóstico, manejo y tratamiento mitigando así en alguna medida, el duro trance que les toca vivir a los niños que la padecen y sus familiares. En la actualidad no existe ningún tratamiento eficaz, curativo, de la OI, porque no puede actuarse directamente sobre la formación de colágeno tipo I. A lo largo de la historia se han utilizado diversos tratamientos médicos (calcitonina, esteroides anabólicos, etc.) para intentar aumentarla masa ósea, sin obtener resultados. Mientras se desarrollan tratamientos para corregir la anormalidad genética, el tratamiento con Bifosfonatos, ha mejorado la calidad de vida de los pacientes con OI; el tratamiento es más efectivo durante el período de crecimiento.

El síndrome de CHARGE (OMIM, 214800) es una asociación genética con patrón de herencia autosómica dominante. La causa más frecuente es la mutación del gen que codifica a la proteína 7 de unión al cromodominio de la ADN helicasa (CHD7) y cuyo locus se encuentra localizado en el brazo largo del cromosoma 8 (8q12.1). El acrónimo CHARGE comprende a diversas alteraciones congénitas presentes en la asociación: coloboma, cardiopatía congénita, atresia de coanas, retraso psicomotor y del crecimiento, anomalías genitales, malformaciones auriculares y/o sordera. La incidencia de éste síndrome oscila entre 0.11.2/10,000 nacidos vivos, sin embargo, puede ser subestimado por no ser reconocido o diagnosticado oportunamente y posterior a ello la importancia de impartir un adecuado consejo genético familiar. El objeto de este trabajo es presentar un caso del síndrome de CHARGE en un lactante masculino resaltando los hallazgos clínicos de esta inusual entidad. Los pacientes con CHARGE tienen facies planas con pendiente de la frente y punta aplanada de la nariz. El oído tiene forma de copa con un lóbulo hipoplásico, resultante de cartílago deficiente en el oído externo y la falta de inervación del nervio facial. Anosmia debido a una ausencia o disfunción del nervio olfativo (NC I), la parálisis facial (NC VII), y la pérdida de audición neurosensorial (NC VIII) también son observadas. Por otra parte, anomalías atribuibles a los NC IX, X, y XI pueden dar lugar a dificultades para deglutir, reflujo esofágico.

Multiple pregnancy is an entity that is closely linked to genetic studies, especially in the case of twins in the medical area of obstetrics. Its incidence is low; however, it represents a factor of high obstetric risk and therefore, is subject to complications during pregnancy, both for the mother and the fetus (mutations, anomalies or incompatibility with life). Alterations can be found in the normal development of this type of pregnancy, although unfortunately the knowledge about its origin continues to prevent its prevention or treatment. This paper describes a clinical case of a 17 year old primiparous who had the diagnosis  of a monocorial, biamniotic twin pregnancy. She attended at the High Obstetric Risk Consultation of the "Instituto Autonomo Hospital Universitario Los Andes (IAHULA); in which a fetus with multiple malformations, characterized by acranea, hepatoomphalocele and a tumor in umbilical cord is diagnosed during 2D pelvic ulltrasonography. Genetic studies are performed where there is no evidence of any alteration.

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Stress is an enemy of health and people limiting their personal development. In the workplace, it is a growing and inevitable problem that implies an important personal, social and economic cost. From it arises Burnout syndrome (SB) which currently represents a public health problem. It presents a research which purpose was to analyze the relationship between SB and Resilience in the nursing staff of the adult Emergency Department of the Autonomous University Hospital of the Andes of Mérida­Venezuela, during the second quarter of 2017. The information was collected by observation and survey, the survey form used was validated by experts judgment, divided into sections: the first gathered socio­demographic and labor characteristics; the second identified the SB and the third measured the resilience. Once the data were tabulated, percentages and descriptive statistics were obtained (average, standard deviation, maximum and minimum values). The association between variables was measured by Pearson correlation (p <0.05). Results: female sex (72%); work 12 hours or more (59.9%), slept less than 4 hours (39.1%); poor working conditions (> 70%), working seniority <5 years (48.8%). SB_medium (62.1%); personal exhaustion (77%), depersonalization (62.1%), lack of personal fulfillment (67.8%). Resilience high level (86.2%), dimensions: tolerance to change (79.3%), personal competence (78.2%), spiritual influence (49.4%). Positive significant relationship: SB­academic degree, SB­years­graduated; negative significance: SB­shares workmates and SB­resilience. It is concluded that resilience behaves as a protective factor against the Burnout syndrome in the nursing staff studied, so its promotion is suggested

Introduction: The nose by its shape and location is considered as a determinant of facial aesthetics. Therefore, rhinoplasty has become one of the most frequently performed forms of facial plastic surgery. Objective: To determine the frequency of facial asymmetry in patients with deviated nose by using the Facial Analysis in the consultation of rhinology of the service of Otorhinolaryngology Santa Sofia in the period 2014­2016. Material and Method: A descriptive, retrospective and field study was carried out, in which frontal photographs of patients with a desire to perform a rhinosenplasty were analyzed. Results: A total of 30 subjects of the study 76.7% female (23) and 23.3% male (7) aged between 16 and 53 years showed significant facial asymmetry in 70% (21) of the cases against 30% (9) cases without statistically significant asymmetry. Of the 20 individuals who presented laterorrhea, 18 had facial asymmetry. When the chi-square test was applied, (p = 0,003) was obtained indicating that both variables are related, specifying that the greatest percentage of facial asymmetry was presented by the patients with laterorrhea. Likewise, the angular measures of facial asymmetry show a level of statistical significance of 95% Conclusions: the highest percentage of facial asymmetry was presented by patients with Laterorrhea. When the measurement patterns were compared, it should be consider that angle measurements can serve us more accurately to determine facial asymmetries.

Introduction: Laryngeal Cáncer is the most common malignancy in head and neck. Its incidence is closely associated with cigarette smoking. It occupies the third leading cause of Cáncer death in men in our country. Objective: To determine the prevalence and management of epidermoid Carcinoma of the larynx in the Autonomous Institute University Hospital of the Andes in Merida State in the period 20102014. Materials and methods: not experimental, descriptive, retrospective cohort study. 52 patients diagnosed with squamous cell Cáncer of larynx in the Autonomous Institute University Hospital of Los Andes included, period 2010 – 2014. RESULTS: 98.1% (51) of the subjects were male and 1.9% (1) are female, aged between 39 and 79 years, mean 60.23 years. The most frequently Merida state with 75.0%. Most subjects in the sample smoked or smoked with 71.2% (37). Most common location: glottis 67.3%. Most common complication after treatment: tracheoesophageal fistula. CONCLUSIONS: From smoking is considered a predisposing factor for laryngeal Cáncer. This study is a first step in the otolaryngology service IAHULA toward future research in the area

The complexity in the handling and understanding of the nasal valves have motivated the interest in optimizing the way of approaching them and / or remodeling them to improve breathing and nasal aesthetics. The changes in dorsal nasal length and the cephalic definition of the tip understood as the distal width of the medial cartilaginous dome were studied. We analyzed 111 patients who met the inclusion criteria. Photographic controls and millimeter measurements were carried out in the same of the variants to be analyzed. The horizontal cut of the return of the upper lateral cartilages generates a thinning of 5 ± 2 mm of the distal width of the medial cartilaginous dome. The oblique cut produces an average shortening of the dorsal nasal length of 5 ± 2 mm. The mixed section (horizontal and oblique) presents an average of thinning of 4 ± 2 of the distal width of the medial cartilage dome and a mean shortening of the dorsal nasal length of 5 ± 3mm. Conclusions: the cuts did not present valvular alterations or punctures after the surgery. The Two Scissors Technique is a reliable, accurate and reproducible technique. It is a useful tool in the arsenal of techniques available to achieve an "additional" effect of cephalad definition of the nasal tip with thinning of the medial portion of the caudal end of the medial vault and / or decrease in the length of the  nasal dorsum.