The records of 34 patients diagnosed with primary small bowel non-Hodgkin's lymphoma during a 10-year period between January 1996 and December 2005, including 27 cases for which complete follow-up records were available, were studied. Abdominal pain (70.6% of patients) was the main presenting symptom, followed by intestinal obstruction (38.2%). The most common primary site was the ileum (58.8%), followed by the jejunum (26.5%) and duodenum (17.6%); one case had tumours at two sites in the small bowel. Twenty-seven patients had small bowel B-cell lymphoma (24 diffuse large B-cell lymphoma; three mucosa-associated lymphoid tissue B-cell lymphoma) and seven patients had small bowel T-cell lymphoma. Cumulative survival in patients with small bowel B-cell lymphoma was higher than that in patients with small bowel T-cell lymphoma. Data on 16 male and eight female patients with diffuse large B-cell lymphoma showed that 62.5% of these patients presented with disease stages I or II and 37.5% with stages III or IV. Cumulative survival in patients at stages IE or IIE was significantly higher than that of patients at stages IIIE or IVE. Four of five patients who died from diffuse large B-cell lymphoma had abnormal levels of lactate dehydrogenase and serum albumin.
Lipid storage myopathies (LSMs) are characterized pathologically by the accumulation of lipid droplets in muscle fibers due to impaired cellular lipid metabolism. The purpose of this study was to determine etiologies and genetic mutations associated with LSMs in ethnic Han Taiwanese. The usefulness of the blood acylcarnitine (AC) profile for diagnosing LSMs in adult patients was also investigated. Nine patients were diagnosed with late-onset LSMs following a review of muscle biopsies and medical records and were recruited retrospectively. Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. Blood AC levels were measured by tandem mass spectrometry. The mutation c.250G>A in ETFDH was detected in seven (78%) patients, six of whom were homozygous for the variant. Patients with ETFDH mutations had elevated blood levels of ACs ranging from C8 to C16 species, a pattern consistent with MADD. ETFDH c.250G>A mutation is common in Taiwanese patients with late-onset LSMs. The blood AC profile is a sensitive biochemical marker for diagnosing MADD arising from ETFDH mutations in adults.
Benzene is an important industrial chemical. It is also an environmental pollutant recognized as a human carcinogen. Both prenatal and adult exposures to benzene are associated with the development of leukemia. To understand the mechanism of benzene-induced epigenetic variations, we investigated the expression and methylation patterns of CpG (phosphodiester bond between cytosine and guanine) islands in p15 and p16 promoter regions in 1,4-benzoquinone (1,4-BQ)-treated primary cultivated C57BL/6J mouse bone marrow cells in vitro. The cell toxicity of 1,4-BQ was evaluated by cell viability test, real-time PCR was used to measure the mRNA expression levels, and bisulfite sequencing PCR (BSP) was used to look into the methylation patterns. The cell viability test indicates that 1,4-BQ exhibited a dose-dependent toxicity to mouse bone marrow cells. After a 24-h exposure to 1,4-BQ at final concentrations of 0, 0.1, 1, and 10 μmol/L, the mRNA expression of p15 and p16 decreased with the increase in 1,4-BQ concentration. The BSP results gathered from the exposure and the control groups were the same. In summary, despite the observation that short-term exposure to 1,4-BQ primary cultivated mouse bone marrow cells decreased the p15 and p16 transcripts, with no influence by their gene promoter methylation.
The action of acupunture stimulation on analgesia has been investigated. The brain and serum extracts of acupuncture rabbits injected into rabbits produced a marked analgesic effect on the recipient, as shown by a great increase of their pain threshold. This effect is counteracted by a specific opiate anatagonist, naloxone. The data suggest that the release of the endogenous substances with morphine-like biological properties, endorphins, is increased by acupuncture stimulation, thus inhibiting pain perception.
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