Treatment Options for Villous Adenoma of the Ampulla of Vater

Introduction: Duodenal villous adenoma arising from the ampulla of Vater has a high risk of malignant development. Excluding associated malignant disease prior to resection of an adenoma of the ampulla is not always possible. Therefore, the surgical procedure of choice to treat this rare tumour is still controversial

Impact of the Mitochondrial Genetic Background in Complex III Deficiency

BACKGROUND: In recent years clinical evidence has emphasized the importance of the mtDNA genetic background that hosts a primary pathogenic mutation in the clinical expression of mitochondrial disorders, but little experimental confirmation has been provided. We have analyzed the pathogenic role of a novel homoplasmic mutation (m.15533 A>G) in the cytochrome b (MT-CYB) gene in a patient presenting with lactic acidosis, seizures, mild mental delay, and behaviour abnormalities. METHODOLOGY: Spectrophotometric analyses of the respiratory chain enzyme activities were performed in different tissues, the whole muscle mitochondrial DNA of the patient was sequenced, and the novel mutation was confirmed by PCR-RFLP. Transmitochondrial cybrids were constructed to confirm the pathogenicity of the mutation, and assembly/stability studies were carried out in fibroblasts and cybrids by means of mitochondrial translation inhibition in combination with blue native gel electrophoresis. PRINCIPAL FINDINGS: Biochemical analyses revealed a decrease in respiratory chain complex III activity in patient's skeletal muscle, and a combined enzyme defect of complexes III and IV in fibroblasts. Mutant transmitochondrial cybrids restored normal enzyme activities and steady-state protein levels, the mutation was mildly conserved along evolution, and the proband's mother and maternal aunt, both clinically unaffected, also harboured the homoplasmic mutation. These data suggested a nuclear genetic origin of the disease. However, by forcing the de novo functioning of the OXPHOS system, a severe delay in the biogenesis of the respiratory chain complexes was observed in the mutants, which demonstrated a direct functional effect of the mitochondrial genetic background. CONCLUSIONS: Our results point to possible pitfalls in the detection of pathogenic mitochondrial mutations, and highlight the role of the genetic mtDNA background in the development of mitochondrial disorders

Frecuencia e impacto del trastorno por estrés postraumático y los eventos vitales traumáticos en pacientes con migraña

Resumen: Introducción: El trastorno por estrés postraumático (TEPT) se ha postulado como un factor de cronificación de la migraña. Nuestro objetivo fue investigar la frecuencia del TEPT y los eventos vitales traumáticos (ET) en pacientes con migraña episódica (ME) y crónica (MC) y su impacto sobre parámetros clínicos, otras comorbilidades y biomarcadores de migraña. Material y métodos: Se reclutó a pacientes con ME y MC según CIC-3β en una Unidad de Cefaleas y un centro de Atención Primaria. Se utilizaron cuestionarios validados para investigar TEPT, ET, síntomas autonómicos craneales, comorbilidades (depresión, ansiedad, fatiga), discapacidad, impacto de la migraña y calidad de vida. Se determinaron los niveles séricos basales de CGRP, VIP y PACAP por ELISA. Resultados: Ciento dieciséis pacientes fueron incluidos: 35 ME y 81 MC; 19 sufrían migraña refractaria (MR). Se detectó TEPT en 23 casos (19,8%): 20 MC y 3 ME (χ2 p = 0,046; T de Fisher p = 0,073). La frecuencia de ningún ET ni el número de ET por paciente fue diferente entre MC y ME; 5/19 MR habían sufrido violación (vs. 2/97 no MR; p = 0,002). El TEPT se asoció con más síntomas autonómicos, mayor puntuación en escalas de ansiedad, depresión y fatiga, y menor calidad de vida, y no modificó los niveles de neuropéptidos. Conclusiones: Este estudio sugiere que el TEPT es frecuente en pacientes con migraña, especialmente MC, también en nuestro medio, y que particularmente el antecedente de violencia sexual es frecuente en MR. El TEPT impacta negativamente sobre la migraña, asociando más comorbilidades y peor calidad de vida, por lo que es preciso investigarlo en estos pacientes. Abstract: Introduction: Post-traumatic stress disorder (PTSD) has been proposed as a risk factor for migraine chronification. The aim of this study was to investigate the frequency of PTSD and traumatic life events (TE) in patients with episodic migraine (EM) and chronic migraine (CM) and their impact on clinical parameters, other comorbidities, and migraine biomarkers. Material and methods: Patients with EM and CM ICHD-3Beta according to the International Classification of Headache Disorders (third edition; beta version) were recruited at a headache unit and a primary care centre. We used validated questionnaires to investigate PTSD, TE, cranial autonomic symptoms, comorbidities (depression, anxiety, and fatigue), disability, migraine impact, and quality of life. Baseline serum levels of CGRP, VIP, and PACAP were determined by ELISA. Results: The study included 116 patients: 35 with EM and 81 with CM. Nineteen presented refractory migraine (RM). PTSD was detected in 23 patients (19.8%): 20 with CM and 3 with EM (chi-square: P=.046; Fisher T: P=.073). Neither the frequency of any TE nor the number of TEs per patient were different between CM and EM. A total of 5/19 patients with RM had experienced sexual violence (vs 2/97 with non-RM; P=.002). PTSD was associated with more autonomic symptoms; higher scores on anxiety, depression, and fatigue scales; and poorer quality of life; and it did not change neuropeptide levels. Conclusions: Our results suggest that PTSD is frequent in patients with migraine, and especially CM, in our setting; history of sexual violence is particularly frequent in patients with RM. PTSD has a negative impact on migraine, with higher numbers of comorbidities and poorer quality of life; therefore, further research is needed in this patient group