Association of Fokl polymorphism of the VDR gene with systemic lupus erythematosus in an adolescent population of the Colombian Caribbean

Introduction: Vitamin D and vitamin D receptor (VDR) polymorphisms are associated with autoimmune diseases including systemic lupus erythematosus (SLE). The aim of this study is to assess the genetic association between VDR polymorphisms: TaqI, ApaI, Bsml and FokI and SLE with serum levels of Vitamin D in the Colombian Caribbean population. Method: Case and control study. One hundred and thirty-three patients with SLE and 100 healthy individuals were included. VDR polymorphism were genotyped by RT-PCR and Taqman® probes. Allelic, genotypic and haplotype associations were estimated. Serum vitamin D concentrations were quantified by Elisa. Values of 30 to 100ng/ml were established as a normal reference range. P values <.05 were considered statistically significant. Results: A high prevalence of SLE was observed in women (94%) and was associated with a higher risk of SLE [OR: 10.8; 95% CI: 4.7-24.6] (p<.05). Moreover, higher risk of SLE was observed in individuals with FokI VDR [rs2228570] [OR: 1.58; 95% CI: 1.05-2.36] in allelic models. The ACCA Haplotype of TaqI/ApaI/Bsml/FokI polymorphisms was associated with higher risk of SLE [OR = 2.28, 95% CI = 1.12-4.66, psim <.01]. Vitamin D deficiency was evidenced in 11.3% of the patients. Conclusion: In this study, the VDR rs2228570 polymorphism and ACCA haplotype were associated with higher SLE risk in an adolescent population.

Introducción: La vitamina D y los polimorfismos en el receptor de vitamina D (VDR) se asocian con enfermedades autoinmunes, incluido el lupus eritematoso sistémico (LES). El objetivo de este estudio es analizar la asociación genética entre los polimorfismos de VDR (Taql, Apal, Bsml y Fokl) y la susceptibilidad al LES, así como su relación con los niveles séricos de vitamina D en población del Caribe colombiano. Metodología: Estudio de casos y controles. Se incluyeron 133 pacientes adultos con diagnóstico de LES y 100 individuos sanos. Los polimorfismos VDR fueron genotipados por RT-PCR y sondas Taqman®. Se estimaron asociaciones alélicas, genotípicas y haplotípicas. Las concentraciones séricas de vitamina D fueron cuantificadas por Elisa. Se establecieron valores de 30 a 100ng/ml como rango normal de referencia. Valores p<0,05 fueron considerados estadísticamente significativos. Resultados: Se observó una alta prevalencia de LES en pacientes femeninas (94%) y se asoció a mayor riesgo de LES (OR: 10,8; IC95%: 4,7-24,6; p < 0,05). Se evidenció mayor riesgo de LES en individuos con polimorfismo Fokl del gen VDR [rs2228570] (OR: 1,58; IC95%: 1,05-2,36) en modelos alélicos. El haplotipo ACCA de los polimorfismos Taql, Apal, Bsml y Fokl se asoció a mayor riesgo de LES (OR: 2,28, IC95%: 1,12-4,66; psim<0,01). Se evidenció deficiencia de vitamina D en el 11,3% de los pacientes. Conclusión: En este estudio, el polimorfismo VDR rs2228570 y el haplotipo ACCA se asociaron a mayor riesgo de LES en población adolescente.

Osteonecrosis de los maxilares asociada a medicamentos: revisión de la literatura y propuesta para la prevención y manejo / Osteonecrosis of the jaws

Medication-related osteonecrosis of the jaw is a disease where there is necrotic bone exposed or that can be explored by means of a fistula in the maxillofacial region. It has been associated with the use Biphosphonates and denosumab for osteoporosis. Although its etiology is unclear, it may be related to a decrease in bone turnover produced by these drugs, rendering the bone more prone to generate cell necrosis during invasive dental procedures, especially in the posterior region of the jaw. There is no consensus about the prevention and treatment of this condition. The aim of this paper is to present a review of the literature with the main characteristics of osteonecrosis of the jaws associated with drugs, together with a proposal for prevention and treatment for these patients.

Respuesta a la farmacoterapia en pacientes con glomerulonefritis membranoproliferativa en una clínica de Barranquilla, Colombia. 2007-2014 / Response to pharmacotherapy in patients with membranoproliferative glomerulonephritis in a hospital of Barranquilla, Colombia, between 2007 and 2014

Resumen Introducción. La glomerulonefritis membranoproliferativa (GnMP) es un patrón de lesión glomerular hipercelular mesangial con adelgazamiento de la membrana basal glomerular y proliferación endocapilar que está mediado por las inmunoglobulinas o el sistema del complemento en el mesangio y endotelio capilar. Objetivo. Evaluar la respuesta a la farmacoterapia en pacientes diagnosticados con GnMP en una clínica de Barranquilla entre los años 2007 y 2014. Materiales y métodos. Estudio de cohorte retrospectivo en el que se evaluaron 58 pacientes con diagnóstico de GnMP por biopsia renal, quienes se clasificaron como respondedores y no respondedores. Se realizó una evaluación de tratamiento estándar según tipo de GnMP: mediado por complemento y mediado por inmunocomplejos e inmunofluorescencia negativa a los 6 y 12 meses de tratamiento. Resultados. La edad promedio de los participantes fue de 35±13 años. De 58 pacientes, 52% eran mujeres, 63% desarrolló enfermedad renal crónica (ERC) al año de evaluación, 25.8% logró remisión (22.4% completa y 3.4% parcial) y 74.2% no logró entrar en remisión. Conclusión. La GnMP es una causa importante de ERC entre la población estudiada. La respuesta al tratamiento inmunosupresor no demostró beneficios estadísticamente significativos, independiente del tipo de GnMP.

Abstract Introduction: Membranoproliferative glomerulonephritis (MPGN) is a pattern of mesangial hypercellular glomerular lesion with thinning of the glomerular basement membrane and endocapillary proliferation, mediated by immunoglobulin and the complement system of the mesangium and capillary endothelium. Objective: To assess the response to pharmacotherapy in patients diagnosed with MPGN in a hospital of Barranquilla between 2007 and 2014. Materials and methods: Retrospective cohort study in which 58 patients diagnosed with MPGN by renal biopsy were assessed and classified as responsive and non-responsive. A standard treatment assessment was performed according to the type of MPGN: mediated by the complement system, mediated by immunocomplexes, and negative immunofluorescence at 6 and 12 months of treatment. Results: The average age of the participants was 35±13 years. Of 58 patients, 52% were female, 63% developed chronic kidney disease (CKD) one year after the assessment, 25.8% achieved remission (22.4% complete and 3.4% partial) and 74.2% failed to enter remission. Conclusion: MPGN is one of the most important causes of CKD among the studied population. Response to immunosuppressant treatment showed no statistically significant benefits, regardless of the type of MPGN.

Adhesivos de cianoacrilato en cirugía oral y maxilofacial / Cyanoacrylate adhesives in oral and maxillofacial surgery

RESUMEN: Los adhesivos de cianoacrilatos (ACA) son materiales sintéticos con propiedades adhesivas. Al ser aplicados en los tejidos polimerizan uniéndose con el tejido subyacente. Desde la década de los 70' se han explorado sus aplicaciones quirúrgicas para el cierre de heridas y fístulas, control de sangrado y fijación de injertos, entre otros, siendo su uso como alternativa para el cierre de heridas en piel y mucosas uno de los más estudiados. Los ACA presentan un limitado grado de absorción, sin evidencia de efectos tóxicos sistémicos. Tienen la ventaja de ser aplicados de forma rápida, indolora, con efecto antibacteriano y hemostático según los reportes de la literatura, pero presentan una reducida fuerza de tensión. El objetivo de esta revisión de la literatura es describir los usos y aplicaciones de los ACA, con enfoque en la cirugía oral y maxilofacial, evaluando de forma crítica sus aplicaciones.

ABSTRACT: The cyanoacrylate adhesives (ACA) are synthetic materials with adhesive properties. When is applied in tissues, it polymerizes and bonds with the underlying tissue. Since the 70s' have been explored their surgical applications for closing wounds, fistulas, bleeding control, and graft fixation, among others. Its use as an alternative for closing wounds in skin and mucous is one of the most studied. The ACA have a limited absorption degree, with no evidence of systemic toxic effects. They have the advantage of being applied quickly, painlessly, with antibacterial effect and hemostatic according to the report of literature, but with reduced tensile strength. The objective of this literature review is to describe the use and applications of ACA, with focus on oral and maxillofacial surgery, with a critically evaluation of their applications.

Un estudio de reclamos hospitalarios: el rol de la relación médico-paciente / A study of hospital complaints and the role of the doctor-patient communication

Background: Medical practice in Chile has changed dramatically over the last few years. Patients have raised their expectations and there is a growing number of complaints, and malpractice lawsuits. The doctor-patient relationship plays a fundamental role in patient satisfaction and has also been identified as an issue in most medical lawsuits. Aim: To analyze the importance of doctor-patient communication in the complaints received in a university hospital in Chile. Material and Methods: Review ofall complaints received at the office for quality of care at a university hospital. Complaints classified in delay, manners and information categories were selected for further analysis. Results: Of a total of8931 complaints registered between 2001 and 2008, 635 (19 percent) involved a doctor. Fifty one per cent of the latter, were related to the doctor-patient relationship. Of these, 146 cases (45 percent) were further classified as "Dysfunctional delivery of Information", 74 cases (23 percent) as "Not understanding the patient/'family's perspective", 54 cases (17 percent) as "Discrediting the patient or family's views" and 49 cases (15 percent) as "Lack of communication". Conclusions: The percentage of complaints related to communication with the doctor is high, though lower than cited in other studies. The most common complaint is the dysfunctional delivery of information.

Tratamiento y prevención de la mucositis oral asociada al tratamiento del cáncer / Treatment and prevention of cáncer treatment related oral mucositis

One ofthe most common and troublesome complications ofmodern intensive anticancer treatments is oral mucositis. The purpose ofthis review is to summarize current evidente and clinical guidelines regarding its prevention and therapy. The use of keratinocyte growth factor-1, supplementary glutamine and other recently developed treatment modalities are discussed. The injury ofthe oral mucosa caused by antineoplastic agents promotes the local expression of múltiple pro-inflammatory and pro-apoptotic molecules and eventually leads to the development of ulcers. Such lesions predispose patients to several infectious and nutritional complications. Also, they lead to modification of treatment schedules, potentially affecting overall prognosis. Local cryotherapy with ice chips and phototherapy with low energy láser may be useful as preventive measures. Mouthwashes with allopurinol and phototherapy with low energy láser can be used as treatment. In radiotherapy, special radiation administration techniques should be used to minimize mucosal injury. Pain control should always be optimized, with the use ofpatient controlled analgesia and topical use of morphine. Supplemental glutamine should not be used outside of research protocols. Lastly, thorough attention should bepaid to general care and hygiene measures.

La comunicación médico paciente: ¿Cuáles son las habilidades efectivas? / Doctor patient communication: Which skills are effective?

Effective Communication Skills form part of what is being a good doctor. There is a solid evidence base that defines the components of effective communication. This article offers a practical conceptual framework to improve physician patient communication to a professional level of competence. There are six goals that physicians and patients work to achieve through their communication with each other. These are to construct a relationship, structure an interview, start the interview, gather information, explain, plan and close the interview. The outcomes that can be improved with an effective communication and the "first principles" of communication are described. A brief look at the historical context that has influenced our thinking about communication in health care is carried out. Finally, the Calgary Cambridge Guide, an approach for delineating and organizing the specific skills required of an effective communication with patients is described. It is clear from the literature that better communication skills improve patient satisfaction and clinical outcomes.

Panniculus carnosus, remanentes vestigiales en la región axilar / Panniculus carnosus, vestigial remanents in the axillary region

Las variaciones anatómicas de los elementos musculares de la región axilar son poco frecuentes y, generalmente, se encuentran olvidadas en los textos modernos de anatomía. Sin embargo, cuando existen, presentan un serio escollo para el cirujano, ya que alteran los hitos anatómicos de referencia para el abordaje de los importantes elementos vasculares y neurales de la región. Desde el siglo XIX algunos autores han descrito una variedad de pequeños fascículos musculares originados en el Panniculus carnosus, que se disponen en relación con los elementos neurovasculares de la axila. En esta ocasión presentamos un hallazgo efectuado en un cadáver, de sexo masculino, utilizado con fines docentes en el Departamento de Anatomía de la Escuela de Medicina de la Pontificia Universidad Católica de Chile. En la región axilar derecha, se observa un fascículo muscular que se extiende desde la apófisis coracoides, dispuesto por delante del músculo subescapular y pasando por detrás del paquete neurovascular de la axila. En su trayecto, este fascículo toma íntima relación con el nervio axilar y con la porción distal de la arteria subescapular. El músculo aberrante termina como una expansión aponeurótica, dispuesta ventral al tendón del latísimo del dorso, que se funde con la fascia axilar.

The anatomical variations of the muscular elements of the axillary region are infrequent and, generally, they are forgotten in modern texts of anatomy. Nevertheless, when they exist, they present a serious obstacle for the surgeon, since they alter the anatomical landmarks of reference for the approach to important neural and vascular elements of the region. Since the 19th century some authors have described a variety of small muscular fascicles originated in the "panniculus carnosus", that are arranged in relation to neurovasculares elements of the axila. In this occasion we present a finding performed in a corpse, male sex, dissected in the Department of Anatomy of the School of Medicine of the Pontificia Universidad Católica de Chile. In the right axillary region, a muscular fascicle is observed that extends from the coracoid process, arranged in front of the subscapularis muscle, and passing behind the neurovascular elements of the axila. In its course, this fascicle takes close relation with the axillary nerve and with the distal portion of the subscapular artery. This aberrant fascicle ends as an aponeurotic expansion, arranged ventral to the tendon of the latissimus dorsi muscle, which melts with the axillary fascia.

Anatomía y Neuroanatomía, Disciplinas Perjudicadas por la Reforma Curricular / Anatomy and Neuroanatomy the Most Impair in the Curricular Reform

En los últimos tiempos, la docencia en Morfología ha debido enfrentar un escenario cambiante, producto de: a) un cambio curricular que ha llevado a la reducción de las horas destinadas a los cursos de Anatomía y Neuroanatomía; b) la dificultad creciente de obtener material cadavérico para las actividades prácticas de dichos cursos; c) el incremento en el número de alumnos de los cursos de pregrado; y, d) la reducción alarmante de los cultores de estas ciencias básicas del currículo de Medicina. Como resultado de lo anterior, es dable esperar, que esta situación -que tiene un alcance mundial-, más temprano que tarde tenga un efecto en el conocimiento morfológico de los médicos recién formados. En este estudio se analiza el rendimiento obtenido en pruebas diagnósticas de reconocimiento de estructuras en Anatomía y Neuroanatomía, aplicadas a médicos residentes de primer año de la especialidad de Radiología, formados bajo este nuevo paradigma curricular. Los resultados mostraron que la nota promedio (escala 1 a 7) de la prueba diagnóstica fue 3,14 + 0,99. Es interesante notar que para una evaluación similar, los alumnos de primer año de la carrera de medicina obtienen una nota promedio de 5,75 +0,55. Luego de aplicar a los mismos residentes del estudio un curso teórico-práctico de nivelación en Anatomía, se aprecia un mejoramiento en el reconocimiento de estructuras anatómicas, con nota promedio de 4,79 + 0,96; detectándose una mejora sustantiva en la identificación de elementos en secciones anatómicas de tronco. En las evaluaciones de temas neuroanatómicos, las diferencias son aún más notorias (1,53 v/s 3,97). Estos datos reposicionan a las actividades prácticas de Anatomía, en especial el trabajo con material cadavérico , como un quehacer central en el proceso de aprendizaje de estos temas. Esta situación de olvido y/o desconocimiento observada en los nuevos médicos, ha generado una gran demanda por cursos de apoyo morfológico para las ...

In the last years morphology teaching has being influenced due to a changing environment which includes a) Reduction in the number of credits in the courses of anatomy and neuroanatomy; b) The increasing difficulty to obtain cadaveric material for teaching purposes; c) The increase in the number of students; and d) The reduction of the numbers of instructors and professors in morphological sciences. As a consequence of these changes there is impairment in the knowlegde of this basic courses in the present medical graduates. In this paper we analyzed the anatomical knowledge obtained in practical test applied to residents in radiology. The results show that the average grade (scale 1 to 7) gets in the diagnostic tests is 3,14 + 0,99. It is interesting to point out that a similar test apply to undergraduate medical students of the first year, shows an average grade of 5,75 + 0,55. After a theoretical and a practical course given to the residents mentioned before, these postgraduate students were examined again. The average grade obtained this time was 4,79 + 0,96, showing an important increment in the anatomical knowledge. In the neuroanatomical questions, the performance previous and posterior to the course was much better (1,53 v/s 3,97). These results point out to the importance of the practical teaching activities with cadaveric material as a core process in the anatomical learning. The issue of forgotten antomical knowledge in the recent graduated residents has generated an increased request of anatomical practical courses for different medical specialties.

Análisis del paladar óseo como zona dadora de injerto / Analysis of the hard palate as a donor site for bone grafting

El paladar óseo podría ser una zona favorable como dadora de injertos, siempre que se pueda determinar con seguridad su grosor. El objetivo de este estudio fue evaluar la correlación entre la altura facial superior y el grosor del paladar óseo. En 29 cráneos secos se midió la altura facial superior, ubicando los puntos craneométricos nasion y prostion. Luego se midió el grosor del paladar óseo de todas las muestras a los 6 y 9 mm a dorsal del conducto incisivo, en la zona paramediana (3 y 6 mm. de la línea media en ambas antímeras). Se realizó el Test de Correlación de Pearson, para establecer si la altura facial puede predecir el grosor del paladar óseo. Existe una gran variabilidad en el grosor del paladar óseo entre los cráneos, con un rango de 0,1 a 1,1 cm. El mayor grosor se presentó a los 6 mm. hacia dorsal del conducto incisivo, con un promedio de 0,71 +/- 0,20 cm. No se determinó una correlación estadísticamente significativa entre la altura facial superior y el grosor del paladar. Para definir ajustadamente el grosor del paladar óseo y, asimismo, su utilidad como zona dadora de injerto, será necesario confrontar la craneometría con estudios imagenológicos avanzados.

The palate bone could be a favorable zone as a graft donor site whenever there is certainty in determining its thickness. The aim of this study was to assess the correlation between the upper anterior facial heights with the hard palate thickness. In 29 dry skulls, we measured the upper anterior facial height after identifying the craniometric points nasion and prosthion. Then we measured the thickness of the hard palate of every sample at 6 and 9 mm dorsally from the incisive canal, in both paramedian regions (at 3 and 6 mm from the mid-palatal suture). A statistical analysis was done with Pearson correlation test to establish if the facial height could be a predictor of palate thickness. There exists a great variability in the hard palate's thickness ranging from 0.1 to 1.1 cm. The mean available was found to be best at 6 mm from the incisive canal with an average of 0,71 +/- 0.20 cm. There was no significant correlation between the upper anterior facial height and the palate thickness. To rightly determine the hard palate thickness and, at the same time, its availability as a bone graft site, it would be necessary to confront craniometric methods with advanced imaging techniques.