UNLABELLED: Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive spondylo-epiphyseal dysplasia. The characteristic features of SIOD include 1) short stature with hyperpigmented macules and an unusual facies, 2) proteinuria with progressive renal failure, 3) lymphopenia with recurrent infections, and 4) cerebral ischaemia. Although 25 patients have been reported with this disorder, the clinical course and phenotype of SIOD are not well characterized. This report summarizes the clinical findings, course and treatment of reported patients and includes 14 additional patients with SIOD. We emphasize the high incidence of cerebral ischaemia and ocular abnormalities, define the high incidence of thyroid dysfunction and blood cytopenia, and confirm the absence of effective and durable medical therapies. CONCLUSION: Schimke immuno-osseous dysplasia is a multi-system autosomal recessive disorder with variable expression that affects the skeletal, renal, immune, vascular, and haematopoietic systems. Medical therapy is limited especially for more severely affected individuals.

Adolescent↗

PubMedDate not supplied

The growth of malignant and nonmalignant human cells is modulated by a human placental extract.

BACKGROUND: In the present paper, malignant and nonmalignant human cells were compared in their response to a fraction (fraction D, FD) of a human placental extract. MATERIALS AND METHODS: The activity of FD was tested on cell proliferation both in the absence and in the presence of 5%, 10% and 15% fetal bovine serum (FBS). For cells growing in monolayers, the medium was renewed with fresh medium containing FD 24 hours after plating and 3 days after the first exposure. In breast cancer cells only, it was also changed after 6 days. For leukemic cells, which grow in suspension, FD was added directly to the medium the day of the seeding and then after 3 and 6 days. RESULTS: In normal fibroblasts, when plated at a low density, a strong inhibitory effect on cell growth was seen with the highest FD dose. This effect was observed in the presence of 5% and 10% FBS, while it disappeared with 15% FBS. In endothelial cells, FD, in the presence of 5% or 10% FBS, produced a modest but constant inhibition of cell proliferation, which was evident after a short treatment and with almost every dose of FD. Breast cancer and leukemic cell lines, plated at a standard density, were markedly inhibited by FD, but this effect was reversed in serum-free conditions, at least in mammary cells. In leukemic cells, after an initial stimulatory effect, FD was not able to counterbalance the absence of serum. CONCLUSIONS: Our data seem to suggest that in FD both stimulating and inhibitory growth-factors coexist, the activity of which are greatly influenced by the culture conditions used.

Cell Division↗

PubMedDate not supplied

Effect of natural beta-interferon on estrogen receptor mRNA of breast cancer cells.

We have demonstrated that natural beta-interferon (beta-IFN) enhances estrogen receptor (ER) mRNA of a human breast cancer cell line, CG-5. Cells were sensitive to the effect of beta-IFN at concentrations ranging from 10 to 100 IU/ml. The increase of ER mRNA was seen after 48 hr of treatment in at least three separate experiments. Our results are in agreement with the previously observed enhancement of receptor protein. In addition, they suggest that the IFN-induced promotion of the antiproliferative activity of drugs which act via ER may be due, in part, to increased receptor synthesis.

Blotting, Northern↗

PubMedDate not supplied

[Assessment of chemical risk according to the D.L. vo 25/2002 in the goldsmith craft industry].

In the last year, various companies of the goldsmith handicraft field have been inquired. These factories are in an area of the Caserta territory. Scope of that job was to apply the method for the chemical risk assessment previewed by D.L.vo 25/2002, using the scheme proposed by Work Minister--General Directorate-Work condition protection. In particular, it has been estimated biological and environmental expositions concerned several chemical metallic agents: Au, Ag, Cu, Zn, Cd, In, Co and Pd. Moreover, it has been focused the attention on the biological and environmental monitoring of Ag, because there are a good correlation between environmental and urinary doses. The analyses have been carried out using atomic absorption techniques. It turns out to you evidence that environmental and biological silver values are often under the detection limit of the method. Therefore, concerning the chemical risk assessment of the investigated factories, it is possible to conclude that: "the potential chemical risk has to be considered moderate".

Dust↗

PubMedDate not supplied

Apoptosis-related gene expression in benign prostatic hyperplasia and prostate carcinoma.

BACKGROUND: The aim of this study was to examine the expressions of the bcl-2, bax, fas and c-myc apoptosis-related genes in benign prostatic hyperplasia (BPH) and prostate carcinoma (CaP) to determine whether significant differences exist within each disease and between the two groups of patients. The correlation between gene expression and tumour diameter, stage, Gleason score and serum PSA was also investigated. PATIENTS AND METHODS: Tissue specimens from 51 cases of BPH and 27 cases of CaP were examined for bcl-2, bax, fas and c-myc expression by reverse transcriptase-PCR (RT-PCR). RESULTS: In BPH, bcl-2 and bax gave the weakest signals (p < 0.001). In CaP, bcl-2 was the least expressed gene (p < 0.001). In both patient groups, fas and c-myc were the most highly expressed genes (p < 0.05). Both bcl-2 and bax were expressed at higher levels in CaP than in BPH (p < 0.02). The bcl-2/bax ratio was lower in CaP than in BPH (p < 0.001). Bcl-2 was more highly expressed in high Gleason grade (> 7) tumours (p < 0.05). In the BPH group, bax showed a positive relationship with fas (p < 0.01), while the bcl-2 level inversely correlated with that of c-myc (p < 0.05). CONCLUSION: Our data showed that all the apoptosis-related genes were expressed in both BPH and CaP. The stronger expression of bax and the lower bcl-2/bax ratio observed in CaP may suggest a pro-apoptotic stimulus, while the higher bcl-2 levels appear to counterbalance the tendency to cell death.

Aged↗

PubMedDate not supplied

Antitumor effect of lonidamine alone or combined with tamoxifen or medroxyprogesterone acetate in breast cancer cells.

The effect of Lonidamine (LND) alone or combined with the antiestrogen Tamoxifen (TAM) or Medroxyprogesterone acetate (MPA) on cell proliferation and steroid hormone receptor content of a human estrogen sensitive breast cancer cell line was investigated. LND has a direct growth inhibitory action, even if used at relatively low concentrations (10(-7) M), and shows the maximum effect at 10(-4) M. The combination of LND with the antiestrogen does not produce a potentiation of the TAM-induced reduction of cell number, while the association of the drug with MPA seems more effective with respect to MPA alone, at least at certain concentrations. The negative interference observed between LND and TAM may be due to the LND-induced decrease of estrogen receptor levels.

Antineoplastic Combined Chemotherapy Protocols↗

PubMedDate not supplied

Increased serum calcitonin, reduced serum 1,25-(OH)2-vitamin D and normal parathormone concentrations in idiopathic hypercalciuria.

Twelve children (5 males and 7 females, mean age 8.5 years) with idiopathic hypercalciuria (IH), 9 with absorptive IH (1 type I and 8 type II) and 3 with renal IH, were followed in our outpatient hospital from September 1981 to March 1987. Mean (+/- 1 SD) free diet calciuria was 5.9 +/- 1.66 mg/kg/day. Diagnosis was made measuring urinary Ca/Cr ratio after controlled diet and calcium loading test. Serum parathormone (PTH), 1,25-(OH)2-D3 and calcitonin (TCT) values and renal threshold phosphate concentration (TmPO4/GFR) were also studied. Serum PTH was normal in all children. Serum TCT levels were significantly increased in the patients with IH compared with controls (p less than 0.001) while serum 1,25-(OH)2-D3 levels were significantly reduced compared with controls (p less than 0.001).

Calcitonin↗

PubMedDate not supplied

[One of the complications of steroid therapy: posterior subcapsular cataract].

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Adolescent↗