Silencing is Not-So Golden: A New Model for Inheritance of Lynch Syndrome

Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1
Ligtenberg et al. (2009)
Nature Genetics 41: 112–117     

潍坊市职业卫生技术服务机构现状调查

2002年5月1日颁布实施的《中华人民共和国职业病防治法》是规范职业卫生技术服务行为的法律依据。这是职业卫生技术服务工作走上规范化、标准化、法制化的根本保障，是职业卫生技术服务机构参与市场竞争、提高服务质量、促进自身发展的必由之路，也是企业自主选择职业卫生技术服务机构、提高职业危害防治水平、促进经济发展的关键所在。4年多来，我市各级各类职业卫生技术服务机构的发展极不平衡，仪器设备配备水平、人员能力素质与我省同类地区相比也有较大差距。为了解我市职业卫生技术服务机构现状，我们进行了此项调查。     

Transient colonization of the gut of newborn infants by orally administered bifidobacteria and lactobacilli

We investigated if orally administered bifidobacteria and/or lactobacilli could be cultured from faeces of infants after antibiotic treatment, when these bacterial species are usually absent. Lyophilized Bifidobacterium longum, strain BB-536, B. breve, strain BB-576, or Lactobacillus acidophilus, strain LAC-343, were used. Doses of 3 x 10(9) cells of one strain, or a mixture of all three strains 3 x 10(9) cells each were fed three times daily at mealtimes to 11 infants aged 0-8 weeks. Treatment was started the first day after antibiotic treatment and was continued for 5 days. The bacterial species were isolated in 9 of 11, 7 of 10 and 2 of 9 specimens obtained on the last day of bifidobacteria or lactobacilli administration, 5 and 15 days thereafter, respectively. No side effects were noted.     

Endometrial carcinoma with laparotomy wound recurrence: complete remission following surgery and chemotherapy consisting of paclitaxel and carboplatin

We present a patient with surgical stage I endometrial cancer who experienced laparotomy wound recurrence 4 years after primary treatment. She was treated successfully by complete surgical resection of recurrent tumors and chemotherapy. A 62-year-old white female with laparotomy wound recurrence of endometrial carcinoma with small-bowel involvement and concomitant subcutaneous metastasis in the abdominal wall underwent complete surgical resection of metastatic tumors followed by six cycles of chemotherapy consisting of paclitaxel (175 mg/m2) and carboplatin (area under the curve 5). Since 24 months after resection of recurrence, she has no evidence of disease recurrence. Endometrial carcinoma with laparotomy wound recurrences, especially those with concomitant metastases, can be successfully treated by complete surgical resection followed by chemotherapy consisting of paclitaxel and carboplatin.     

Human myeloid alpha 3-fucosyltransferase is involved in the expression of the sialyl-Lewis(x) determinant, a ligand for E- and P-selectin

The sialyl-Lex determinant (NeuAc alpha 2-->3Gal beta 1-->4[Fuc alpha- 1-->3]GlcNAc) has been identified as a major ligand in the selectin- mediated adhesion of neutrophils and monocytes to activated endothelium or platelets. This carbohydrate epitope is formed by the sequential action of alpha 3-sialyltransferase and alpha 3-fucosyltransferase on N- acetyllactosamine (Gal beta 1-->4GlcNAc) disaccharide termini of glycoconjugates. We have addressed the role of the human myeloid alpha 3-fucosyltransferase in the expression of this epitope at the leucocyte surface by determining its activity in human-mouse leukemic cell hybrids (WEGLI), normal human granulocytes and chronic myeloid leukemia (CML) cells using sialylated and desialylated glycoproteins and oligosaccharides as acceptor substrates. In contrast to what has been reported for the myeloid-type enzyme, we found that the alpha 3- fucosyltransferase of the cells studied can use sialylated acceptors be it that the activity is several times lower than with asialo- substrates. Characterization of the product obtained with a sialylated oligosaccharide indicated that the enzyme can catalyze the formation of the sialyl-Le(x) structure. Flow cytometry of the WEGLI cells using a sialyl-Le(x)-specific monoclonal antibody (MoAb) showed that these cells indeed express sialyl-Lex at their surface, provided that they contain human chromosome 11. Earlier the presence of this chromosome had been correlated with the expression of alpha 3-fucosyltransferase activity. In addition to sialyl-Le(x), WEGLI cells containing chromosome 11 showed high-expression levels of related structures recognized by antibodies VIM-2 and VIM-8, suggesting that fucose addition can occur at both distal and proximal GlcNAc residues in poly- N-acetyl-lactosaminoglycan sequences. Based on the human chromosome contents it could be ruled out that the alpha 3-fucosyltransferase of WEGLI cells is a Lewis-type alpha 3/4- or plasma-type alpha 3- fucosyltransferase, the genes of which have been mapped to chromosome 19. It is concluded that the enzyme studied is of the myeloid-type and indeed is involved in the synthesis of sialyl-Le(x) (and also VIM-2 and VIM-8 structures) in leukocytes provided that its expression is at a sufficiently high level.     

Colon perforation following percutaneous nephrostomy and renal calculus removal

Two patients had colonic perforation as a result of percutaneous nephrostomy placement followed by track dilatation and renal calculus removal. We present the technical aspects of nephrostomy placement and stone removal, as well as the clinical diagnosis and management of these cases. Both patients recovered well with conservative therapy and required no surgical intervention. This report reviews the anatomic considerations for percutaneous nephrostomy in patients undergoing renal stone removal.     

Gamma-knife radiosurgery for trigeminal neuralgia

Gamma knife was installed at the PD Hinduja National Hospital and Medical Research Centre, Mumbai, India, in January 1997. In the first year of gamma-knife radiosurgery to January 1998, we treated 110 patients, of whom six had medically refractory trigeminal neuralgia. Seven treatments were administered to this group of six patients (one had bilateral neuralgia). This report evaluates the effectiveness of radiosurgery treatment in these patients. The median age of the patients was 56 years and there were five males and one female. Following Leksell stereotactic frame fixation, a magnetic resonance imaging scan was done in all. The Leksell gamma plan was used for planning. A radiosurgery dose of 70–80 Gy was delivered to the trigeminal root entry zone, 2–4 mm anterior to the junction of the pons and trigeminal nerve with a single 4 mm collimator helmet. Complete pain relief was achieved in four patients. Two had partial relief. No patient developed any radiosurgery related morbidity during the follow-up period of 5–16 months. Radiosurgery seems to be an effective approach for medically or surgically refractory trigeminal neuralgia.     

Hypoaldosteronism in three sibs due to 18-dehydrogenase deficiency

Three sibs all presented in the early neonatal period with a salt-losing syndrome. The salt-losing form of congenital adrenal hyperplasia was diagnosed and appropriate treatment with glucocorticosteroids, mineralocorticosteroids, and additional dietary salt started. Although early life was maintained with difficulty, with age all 3 children required decreasing amounts of replacement steroids to maintain normal plasma electrolyte balance. They were reinvestigated at the ages of 15 years and 8 years (twins), when cortisol synthesis and metabolism proved normal, but aldosterone synthesis was blocked by deficiency of 18-dehydrogenase. Rational treatment of these cases of a salt-losing syndrome in which aldosterone synthesis alone is blocked due to lack of the enzyme 18-dehydrogenase requires the administration of a mineralocorticosteroid drug only. Since deoxycorticosterone (acetate or pivalate) requires intramuscular administration, as life-long therapy oral fludrocortisone is preferable. Although fludrocortisone has glucocorticoid activity, the "hydrocortisone equivalent" effect of the small dosage used was unlikely to inhibit either pituitary corticotrophin or growth hormone production.