A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the NTRK1 gene, which encodes the high affinity tyrosine kinase receptor I for Neurotrophic Growth Factor (NGF). -- Case Presentation: We present the case of a female patient diagnosed with CIPA at the age of 8 months. The patient is currently 6 years old and her psychomotor development conforms to her age (RMN, SPECT and psychological study are in the range of normality). PCR amplification of DNA, followed by direct sequencing, was used to investigate the presence of NTRK1 gene mutations. Reverse transcriptase (RT)-PCR amplification of RNA, followed by cloning and sequencing of isolated RT-PCR products was used to characterize the effect of the mutations on NTRK1 mRNA splicing. The clinical diagnosis of CIPA was confirmed by the detection of two splice-site mutations in NTRK1, revealing that the patient was a compound heterozygote at this gene. One of these alterations, c.574+1G > A, is located at the splice donor site of intron 5. We also found a second mutation, c.2206-2 A > G, not previously reported in the literature, which is located at the splice acceptor site of intron 16. Each parent was confirmed to be a carrier for one of the mutations by DNA sequencing analysis. It has been proposed that the c.574+1G > A mutation would cause exon 5 skipping during NTRK1 mRNA splicing. We could confirm this prediction and, more importantly, we provide evidence that the novel c.2206-2A > G mutation also disrupts normal NTRK1 splicing, leading to the use of an alternative splice acceptor site within exon 17. As a consequence, this mutation would result in the production of a mutant NTRK1 protein with a seven aminoacid in-frame deletion in its tyrosine kinase domain. --Conclusions: We present the first description of a CIPA-associated NTRK1 mutation causing a short interstitial deletion in the tyrosine kinase domain of the receptor. The possible phenotypical implications of this mutation are discussed.

Discounting future pain: Effects on self-reported pain

Empirical results are presented showing that people who acknowledge pain anticipation when expecting an injury experience higher sensitivity to pain (GREP, Robinson et al., 2001). The positive correlation between sensitivity and anticipation is highly significant. However, no relationship is found between anticipation and pain endurance.

Time discounting (delta) and pain anticipation: Experimental evidence

To be published in: Revista Internacional de Sociología (2011), Special Issue on Experimental and Behavioral Economics.

Factors associated with chronic pain in patients with bipolar depression: a cross-sectional study

Background: While pain is frequently associated with unipolar depression, few studies have investigated the link between pain and bipolar depression. In the present study we estimated the prevalence and characteristics of pain among patients with bipolar depression treated by psychiatrists in their regular clinical practice. The study was designed to identify factors associated with the manifestation of pain in these patients.- Methods:Patients diagnosed with bipolar disorder (n=121) were selected to participate in a cross-sectional study in which DSM-IV-TR criteria were employed to identify depressive episodes. The patients were asked to describe any pain experienced during the study, and in the 6 weeks beforehand, by means of a Visual Analogical Scale (VAS).- Results: Over half of the bipolar depressed patients (51.2%, 95% CI: 41.9%–60.6%), and 2/3 of the female experienced concomitant pain. The pain was of moderate to severe intensity and prolonged duration, and it occurred at multiple sites, significantly limiting the patient’s everyday activities. The most important factors associated with the presence of pain were older age, sleep disorders and delayed diagnosis of bipolar disorder.- Conclusions: Chronic pain is common in bipolar depressed patients, and it is related to sleep disorders and delayed diagnosis of their disorder. More attention should be paid to study the presence of pain in bipolar depressed patients, in order to achieve more accurate diagnoses and to provide better treatment options.

Intervenciones grupales en mujeres con cáncer de mama para mejorar su calidad de vida

[Es]El propósito de este trabajo es realizar una revisión sistemática de las intervenciones de grupo llevadas a cabo con mujeres con cáncer de mama y comprobar en qué medida mejoran la calidad de vida de estas pacientes. Actualmente, debido a la creciente incidencia de este tipo de neoplasia, es preciso evaluar las intervenciones de las que se disponen para lograr un tratamiento efectivo, eficaz y eficiente. Para ello, la revisión se realizó empleando las bases de datos más relevantes, como PubMed, Scielo, Fundación Index y Cochrane Library, de manera que se seleccionaron 14 de los 24 artículos encontrados, rechazando 10 por no cumplir los objetivos del presente trabajo. Los resultados hallados mostraron que las intervenciones que se utilizaron para mejorar los factores psicológicos y sociales, fueron las más utilizadas, logrando mejorar el estado psicosocial de las pacientes. El resto de intervenciones grupales encontradas en esta revisión se empleó para reducir el dolor de las participantes, logrando disminuirlo y controlarlo. Para realizar estas valoraciones, los autores de los estudios analizados emplearon cuestionarios y escalas como el EORTC QLQ-C30, el EORTC QLQ-BR23, el HADS, el POMS, el STAI y la escala EVA. Finalmente se puede concluir que a pesar de la ayuda que estas intervenciones grupales suponen en la mejora de la calidad de vida para la paciente con cáncer de mama, estas no aumentan su supervivencia.