[Show abstract][Hide abstract] ABSTRACT: LEOPARD syndrome (LS), generally caused by heterozygous mutations in the PTPN11 gene, is a rare autosomal-dominant multiple congenital anomaly condition, characterized by skin, facial, and cardiac abnormalities. Prognosis appears to be related to the type of structural, myocardial, and arrhythmogenic cardiac disease, especially hypertrophic cardiomyopathy (HCM). We report on a woman with LS and a novel Gln510His mutation in PTPN11, who had progressive HCM with congestive heart failure and nonsustained ventricular tachycardia, successfully treated with implantable cardioverter defibrillator (ICD). Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS. Molecular risk stratification and careful evaluations for an indication of ICD implantation are likely to be beneficial in managing patients with LS and HCM.
No preview · Article · Oct 2011 · American Journal of Medical Genetics Part A
[Show abstract][Hide abstract] ABSTRACT: As advances in cancer detection and treatment have increased the life expectancy of cancer patients, more attention to improving patient's quality of life (QOL) is needed. Among symptoms accompanying cancer, pain has strong impact on QOL. Most of cancer patients will experience moderate to severe pain and/or neuropathy during the course of their disease. Cancer pain can arise from different processes, either by direct tumor infiltration/involvement, or toxicity relating to chemotherapy used to treat cancer. The World Health Organization (WHO) has proposed a structured approach to drug selection for cancer pain, known as the "WHO analgesic ladder". However, several types of pain including bone cancer pain and chemotherapy-induced painful peripheral neuropathy are difficult to treat. The development of optimal analgesics for cancer pain has been hampered by the lack of understanding basic mechanisms that contribute to cancer pain. Recently, preclinical models of bone cancer pain and paclitaxel-induced painful peripheral neuropathy have been developed. These models have begun to provide insight into the mechanisms by which cancer pain is induced and how cancer pain-related sensory information is processed. In this paper, we review mechanism of cancer pain.
No preview · Article · Sep 2011 · Masui. The Japanese journal of anesthesiology