[Malformations in children of diabetic mothers. Etiopathogenetic aspects and strategy of prevention].
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Biomedical subjects
Publications and source records attributed to G Porzio.
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We report on a girl with progressive multiple pterygium syndrome in association with gluteal muscle fibrosis and nemalin-myopathy. This girl has been followed for 12 years. Clinical findings, natural history, and the presence of nemalin myopathy suggest the possibility of a distinct form of multiple pterygium syndrome in this patient.
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The effect of low-dose somatostatin (2.5 mug/min i.v.) on blood sugar, insulin and GH levels (basal and after i.v. 1 mg glucagon) was studied in 7 normal and 10 acromegalic subjects. No changes in basal values were noted in normal subjects, whereas the insulin response to glucagon was partly inhibited and the glucose response enhanced. Basal blood glucose was likewise unaltered in the acromegalics. There was, however, a significant, though unrelated, fall in both insulin and GH. The insulin response to glucagon was inhibited to a greater degree than in normal subjects. It is clear, therefore, that somatostatin can inhibit the insulin response to glucagon, as well as that to the other stimuli for which data are given in the literature. Acromegalic subjects appear to be more sensitive to inhibition of insulin secretion by somatostatin, though no relation between this and the drug's parallel inhibition of GH secretion can be shown.
Twenty patients with locally advanced cervical cancer (FIGO stage Ib-IIa "bulky"/IIb) were treated with three courses of weekly PVB (day 1: cisplatin, 50 mg/m2; vincristin, 1 mg/m2; bleomycin, 30 IU over 24-hr) in a neoadjuvant setting. Toxicity was generally mild (no grade 3-4 toxicity was observed), and the treatment was well tolerated without reduction of programmed dose intensity. Fourteen patients (70%) experienced a clinical response and underwent surgery within 20 days after the third course of chemotherapy. Six patients (30%) with stable disease were treated with salvage radiotherapy. Two of the 14 responders experienced a pathologic complete response (14.2%); microscopic disease was detected in one patient with clinical complete response. Pelvic node metastases were found in 4/14 patients (28.5%) and microscopic parametrium involvement in 3/14 (21.4%). All 14 patients had free margins of resection. A short-term weekly platinum-based chemotherapy is highly effective, has little toxicity, and allows a prompt salvage therapy for nonresponding patients.
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PURPOSE: To evaluate activity and tolerability of intramuscular administration of 17-alpha-hydroxyprogesterone caproate (Lentogest-Amsa) in hormone replacement therapy in menopause. PATIENTS AND METHODS: Intramuscular slow releasing 17-alpha-hydroxyprogesterone caproate was given to 30 postmenopausal women. Patients were divided into two groups according to the number of monthly doses (1 or 2). RESULTS: In both groups of patients a regular monthly bleeding was obtained. Echographic assessment did not show abnormal endometrial thickness. CONCLUSIONS: The results of this study have pointed out the efficacy of intramuscular progesterone-caproate administration with a better compliance in the single dose group.
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The objective of this study was to investigate the contribution of p16 inactivation in gastric cancer and to compare it with p53. A cohort of 34 primary GCs were analyzed for p16 mutations and transcriptional silencing of the gene due to hypermethylation of the promoter. SSCP analysis and direct sequencing of exons 1 and 2 of the p16 gene were performed to detect any structural alterations. The methylation specific PCR (MSP) assay was applied to reveal hypermethylation of the 'CpG' island in the regulatory region using specific primer pairs for methylated and unmethylated nucleotides after a chemical reaction converting cytosines into uracile when unmethylated. SSCP and direct sequencing analysis did not detect any p16 mutations. The MSP assay showed 4 MSP(+) variants (11.8%). Three MSP(+) were stage III-IV disease and 1 MSP(+) was detected in an early stage disease (IB). All MSP(+) were diffuse type adenocarcinomas. The MSP(+) samples were different from previously reported samples harboring p53 mutations in the same cohort. These data increase the number of gastric cancers showing alterations of either p53 or p16 to 29.4% (10/34). Functional inactivation by hypermethylation of the p16 locus and p53 mutations could play a significant, complementary role in the pathogenesis of sporadic gastric cancer.
The occurrence of mutations in the p53 tumor suppressor gene is a specific and recurring genetic event in solid tumors. P53 plays a pivotal role in multiple cellular processes such as cell growth control, DNA repair and programmed cell death. Genotoxic damage, also induced by chemotherapy or radiotherapy, induces p53 overexpression in order to control the rate of proliferating damaged cells, thus triggering the mismatch repair or apoptotic pathways. P53 inactivation determines a condition of genetic instability, justifying the subsequent susceptibility to acquire mutations of different other genes. P53 mutations are associated with worse prognosis and with chemo/radioresistance, due to the inability to trigger p53-dependent programmed cell death. Molecular diagnostic strategies show 32% p53 mutations in breast cancer. The analysis of the p53 gene performed by FAMA (Fluorescence Assisted Mismatch Analysis) in high-risk breast cancer patients with > or = 10 involved axillary nodes may help identify a subset of very high risk BC patients (vHR-BC) with poorer prognosis and a subset with better prognosis, potentially responsive to medical treatments. The accurate evaluation of the p53 status can predict prognosis and sensitivity to chemotherapy, thus representing the first step toward better definition of therapeutic strategies according to the molecular characterization of the individual patient.