Associations between polymorphisms in DNA repair genes and TP53 mutations in non-small cell lung cancer

This study was conducted to identify genetic factors predisposing to TP53 mutations in patients with non-small cell lung cancer (NSCLC). A comprehensive panel of potentially functional single nucleotide polymorphisms (SNPs) in DNA repair genes was evaluated in relation to TP53 mutations. Thirty-seven SNPs in 28 DNA repair genes were genotyped by a sequenome mass spectrometry-based genotyping assay in 173 NSCLCs and the associations with TP53 mutations in the entire coding exons (exons 2-11), including splicing sites of the gene, were analyzed. Four SNPs (XPA rs1800975, OGG1 rs1052133, ADPRT rs1136410, and NBS1 rs1805794) were significantly associated with the prevalence of TP53 mutations in multivariate analysis for each SNP. When the 4 SNPs were combined, the prevalence of TP53 mutations was increased as the number of bad genotypes increased (P_trend = 0.001). Patients with 3 and 4 bad genotypes had a significantly higher frequency of TP53 mutations than those with 0-1 bad genotypes (adjusted odds ratio = 5.18, 95% confidence interval = 1.51-17.81, P = 0.01 and adjusted odds ratio = 18.26, 95% confidence interval = 2.87-116.09, P = 0.002, respectively). These findings suggest that the 4 SNPs may modulate the occurrence of TP53 mutations and contribute to lung carcinogenesis. However, larger studies are required to confirm our findings in other ethnic populations.     

Body fluid biomarkers for early detection of head and neck squamous cell carcinomas

Along with advancements in treatment, early detection of primary tumor, and relapse seems to remain a key factor for improving the survival rate of patients with head and neck squamous cell carcinoma (HNSCC), in which a high proportion of patients are diagnosed at an advanced stage. Recent advancements in basic research of molecular biology have improved the understanding of the molecular process of HNSCC progression and have led to identification and characterization of numerous biomarkers. Biomarkers of HNSCC are expected to facilitate the early detection of primary, and relapsed tumors. In the present article, we review the recent discoveries of potential biomarkers for the early detection of HNSCC. Most of the promising biomarkers have some limitations in clinical diagnosis. However, salivary interleukin-8 and melanoma-associated gene showed good sensitivity, specificity, convenience, and standardization. As HNSCC is a life-threatening disease, large-scale clinical validation is necessary for these two markers.     

A case of Fabry's disease with congenital agammaglobulinemia

Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.     

Cancer rehabilitation: experience, symptoms, and needs

The aim of this study was to examine the experience of cancer patients undergoing rehabilitation, to identify symptoms associated with rehabilitation from cancer, and to assess the need for rehabilitation services for cancer patients. Cancer patients (n = 402) at the Asan Medical Center (Seoul, Korea) were enrolled from June to September 2008. A chart review was used to collect demographic and clinical data, including type of cancer, current treatment, time from initial diagnosis to screening, and cancer stage. Each participant provided informed consent and was then given a questionnaire that asked about experience with rehabilitation, symptoms associated with rehabilitation, and the need for different types of rehabilitation services. Clinicians recommended rehabilitation for 8.5% of patients, and 6.7% underwent rehabilitation. Among study patients, 83.8% had one or more symptoms associated with rehabilitation, and 71.6% of patients with symptoms wanted rehabilitation management. The need for rehabilitation was associated with the presence of metastasis, advanced cancer stage, time to diagnosis, and type of current treatment. Our results provide specific information about particular functional symptoms and the rehabilitative needs of subgroups of cancer patients. It is suggested to develop and implement rehabilitation programs for cancer patients.     

Successful treatment of restless leg syndrome with the traditional herbal medicines Dangguijakyak-san and Shihogyeji-tang: A case report (CARE-compliant)

Rationale:Dopamine replacement is currently the standard treatment for restless leg syndrome (RLS); however, various adverse effects are associated with long-term therapy, and the benefits disappear upon discontinuation. To overcome these limitations, interest in traditional East Asian medicine has increased.Patient concerns:A 72-year-old Asian woman originally admitted for an intracerebral hemorrhage presented with complaints of an unpleasant sensation throughout the body that appeared at night.Diagnoses:The patient was diagnosed with chronic persistent RLS based on the 2012 Revised International Restless Leg Syndrome Study Group Diagnostic Criteria.Interventions:The patient was treated with extracts of the traditional herbal medicines Dangguijakyak-san (DS) and Shihogyeji-tang (ST). After 47 days of therapy, all herbal medicines were discontinued, and symptoms had not returned by the last follow-up 244 days after the initial treatment.Outcomes:One week after initiating herbal treatment with DS and ST, the RLS symptoms began to improve, and the total hours of sleep had increased from 2 to 9 hours by day 21, with a Korean version of the international restless legs scale score of 11 points. On day 36, ST was discontinued, given the continued improvement of symptoms. On day 47, symptoms had disappeared (Korean version of the international restless legs scale score: 0), and sleep disturbances caused by RLS had completely resolved. After day 47, DS was also discontinued. There were no adverse effects associated with the administration of DS and ST, and the symptoms had not recurred by the last follow-up on day 244.Lessons:In this case, RLS related symptoms, which had been present for approximately 60 years, were improved using only the traditional herbal medicines DS and ST (without dopamine replacement), and no symptoms recurred for 244 days. This case suggests that if replacement therapy is difficult or not desired, herbal medicinal therapies may be an effective alternative. This also suggests that the effect of herbal medicine on RLS might be semi-permanent. Further investigations, including clinical trials, are needed to confirm these effects.