Depressive symptoms are independently associated with pain perception in Colombians with rheumatoid arthritis.

AIMS: To examine the relationships between psychosocial factors and reported pain in Colombians with Rheumatoid Arthritis (RA). METHODS: One hundred and three RA patients [85% from the lowest socio-economic strata (SES) in the country] recruited from outpatient centers in Neiva, Colombia were administered the Disease Activity Scale (DAS) , which included a Visual Analog Scale (VAS) arthritis pain/activity rating, Zung Depression Scale, State-Trait Anxiety Inventory (STAI), Interpersonal Support Evaluation List-12 (ISEL-12), and Symptom Checklist-90 Revised (SCL-90R). MAJOR RESULTS: VAS pain was not associated with socio-demographic or medical factors, but was negatively associated with ISEL tangible subscale (r=-0.22, p< 0.01; r=0.28, p<0.01). VAS pain was positively associated with Zung Depression Scale score (r=0.38, p<0.001), STAI-State and STAI-Trait Anxiety (r=0.23 and r=0.25 respectively, p's<0.01), SCL-90R Global Severity Index (GSI) and Positive Symptom Total (PST) (r=0.23, p<0.05 and r=0.29, p<0.01 respectively), and SCL-90R Somatization, Depression, and Anxiety subscales (r=0.30, p< 0.01; r=0.28, p<0.01; and r=0.20, p<0.05 respectively). A linear regression model showed that socio-demographic characteristics theoretically associated with pain perception (gender, age, and SES) explained only 2.4% of the variance of VAS scores (R(2)=0.02, p=0.49). The full model, including psychosocial factors significantly associated with VAS scores explained 18.9% of the variance in VAS pain perception scores (R(2)=0.19, p=0.02). The Zung Depression Scale score was the only factor independently associated with VAS pain, such that higher depression scores were associated with higher VAS ratings (ß =0.13, p<0.01), controlling for gender, age, SES, STAI-State, STAI-Trait, ISEL tangible, SCL-90R GSI, and SCL-90R PST. CONCLUSIONS: Depressive symptoms, anxiety, social support, and psychopathological symptom distress were associated with pain ratings, but only depressive symptoms were found to be uniquely associated with higher pain perception, taking into account socio-demographic characteristics and other psychosocial factors. Findings provide evidence for the need to assess and treat pain in RA in Colombia from a bio-psycho-social perspective. Future research is needed to determine effective depression screening and evidence-based interventions for depressive symptoms in RA patients in this socio-cultural context, as intervening in depression may decrease pain perception.

KRAS mutation, KRAS-LCS6 polymorphism, and non-small cell lung cancer.

The let-7 family of microRNAs are important regulatory molecules in lung cancer. One downstream target of let-7 is the RAS gene family, including KRAS, an important oncogene in the etiology and clinical outcome of lung adenocarcinoma. Recently, a SNP in the let-7 binding region of the KRAS 3' UTR was identified (termed LCS6). This functional polymorphism alters let-7 binding, resulting in both increased KRAS expression and decreased let-7 exposure. Further, this SNP has been reported as a risk trait for lung cancer among low-moderate smokers. Given the functionality of LCS6, we tested the hypothesis that this SNP is associated with the occurrence of KRAS mutation as well as patient survival. Here, we report there is no association between the LCS6 KRAS polymorphism and KRAS mutation. Further, we find no association between the LCS6 polymorphism and lung cancer survival. These unexpected findings imply that this newly reported KRAS-LCS6 polymorphism will have limited clinical utility for NSCLC.

Deafness on the island of Providencia - Colombia: different etiology, different genetic counseling.

Providencia is a small island located in the Caribbean Ocean, northwest of Colombia with an unusually high frequency of individuals with hearing loss (5 in 1,000) is present. The hearing loss in the island was characterized as non-syndromic autosomal recessive deafness accounting for 47% (8/17) of the deaf population, Waardenburg Syndrome (deafness associated with pigmentary anomalies) for 29% (5/17), and the remaining 24% (4/17) are cases of sporadic non-syndromic deafness. For appropriate genetic counseling a complete pedigree of families with deaf individuals was constructed. The 35delG mutation in GJB2 gene, which encodes connexin 26 (Cx26), is responsible for the deafness observed in the 8 individuals with autosomal recessive non-syndromic hearing loss. The deaf individuals with Waardenburg Syndrome and the sporadic cases did not have this mutation. Therefore, we present here an atypical case of an isolated community with at least two different genetic etiologies for deafness: non-syndromic genetic deafness caused by the 35delG mutation in the GJB2 gene and deafness associated with Waardenburg Syndrome not related to GJB2. In a small and isolated population, it is feasible to assume that the deafness is caused by the same factor; however, Providencia is an atypical case. Therefore, it is extremely important to define the exact etiology of deafness in each case, since different etiologies require different genetic counseling.

Neuroradiology and clinical aspects of Usher syndrome.

We describe the neurological evaluation and MRI analysis of 30 patients, belonging to 16 families with Usher syndrome (US) type I and type II (US1 and US2). In addition to the classic visual and audiological abnormalities seen in these patients, we observed abnormal gait in 88.9% of US1 and in 66.7% of US2 patients and abnormal coordination in 33.4% of US1, and in 58.3% of US2. Borderline mental retardation, depression or bipolar affective disorder were observed in 16.7% of US1 and 33.3% of US2 patients. MRI analysis showed cerebellar abnormalities in 50% of US1 and 75% of US2 patients, but no clear correlation was observed between structural abnormalities and clinical findings. A pattern for the MRI classification of US patients is suggested.