Specific haplotypes of the CALPAIN-5 gene are associated with polycystic ovary syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common endocrine disorder in women of reproductive age. The aim of the present study was to investigate the role of CALPAIN-5 (CAPN5) gene in PCOS susceptibility. METHODS: We analysed four intronic polymorphisms of the CAPN5 gene in 148 well-characterized women with PCOS and 606 unrelated controls. We performed a case-control study and an intracohort analysis of clinical characteristics associated with PCOS. RESULTS: Analysis of haplotypes distribution between PCOS population compared to controls showed a strong deviation (P = 0.00029). The haplotypes GGCA and GGTG were overrepresented in PCOS patients (P = 0.009 and P = 0.001, respectively). In addition, we identified several CAPN5 haplotypes associated with phenotypic differences observed between PCOS patients, such as the presence of obesity (P = 0.02), cardiovascular complications (P = 0.02), familial antecedents of obesity (P = 0.003) and of hypertension (P = 0.007) and type 2 diabetes mellitus aggregation (P = 0.04). CONCLUSIONS: These results suggest a role of CAPN5 gene in PCOS susceptibility in humans. Moreover, novel candidate risk alleles have been identified, within CAPN5 gene, which could be associated with important phenotypic and prognosis differences observed in PCOS patients.

Micronuclei in cytokinesis-blocked lymphocytes may predict patient response to radiotherapy.

We have applied the cytokinesis-block micronucleus assay to peripheral blood lymphocytes of patients undergoing radiotherapy in pelvic and pulmonary sites, in order to evaluate the individual cytogenetic response. Our cytogenetic data correlated with the equivalent whole-body dose are homogeneous and compare well with the data presented by other authors. We have used an exponential mathematical formula to calculate the attenuation of the cytogenetic effect with time. The k coefficient (cytogenetic recovery factor) in the formula expresses the degree of attenuation. In lymphocytes from patients after radiotherapy, the trend of the micronucleus frequency observed after 2 Gy of in vitro X-irradiation demonstrates that the cytogenetic effect obtained in vitro is added to that obtained in vivo. The k coefficient is inversely proportional to the micronucleus frequency observed after 2 Gy in vitro. The micronucleus assay and the cytogenetic recovery factor are proposed as suitable diagnostic tools for application in the field of radiotherapy.

In vivo visualization of pituitary dopaminergic receptors by iodine-123 methoxybenzamide (IBZM) correlates with sensitivity to dopamine agonists in two patients with macroprolactinomas.

We performed in two patients with macroprolactinoma, pituitary scintigraphy with 123 iodine-methoxybenzamide (IBZM), a dopaminergic antagonist that specifically binds to the D2 dopaminergic receptors. In a 34-yr-old woman with basal PRL levels of about 2000 ng/mL, 7.5 mg/day of Bromocriptine (Br) for a month neither reduced PRL levels nor affected tumor size; in this patient single photon emission tomography SPECT failed to show any pituitary accumulation of the tracer. In the other patient, a 27-yr-old man presenting with cerebrospinal fluid rhinorrhea, basal PRL levels were at 5000 ng/mL; magnetic resonance imaging (MRI) demonstrated a huge pituitary tumor, and SPECT showed a very intense concentration of IBZM at the level of the adenoma. PRL levels fell dramatically to 530 ng/mL with only 2.5 mg/day of Br after 4 days; after 6 days with 7.5 mg/day Br, PRL levels were 63 ng/mL, and the patient underwent surgery to correct cerebrospinal fluid leakage. We conclude that, in these two patients, the pituitary scintigraphy with IBZM has given information on the density of dopamine receptors on the adenoma and has correlated with the inhibitory effect of Br on PRL secretion. Whether this tool might be of value in identifying patients with pituitary tumors potentially responsive to Br treatment is still to be investigated.

Bone formation markers and pain palliation in bone metastases treated with strontium-89.

In several bone disorders, including those with metastatic involvement, changes in procollagen type I C-terminal and type III N-terminal peptides are detected, as indications of altered bone metabolism. Assessment of bone turnover could play a role in the evaluation of response to Strontium-89 used as palliative treatment in symptomatic bone metastases from various primary tumors. A correlation between bone formation rate markers procollagen I and III and efficacy of ionic Strontium-89 was shown in a group of 13 patients who underwent treatment with 4 mCi of Strontium-89 for painful bone metastases: 5 from breast, 7 from prostate, and 1 from lung carcinoid cancer. Assessed as a modification of analgesic intake, pain, and ambulation, there were 6 complete remissions, 3 partial remissions, and 4 nonresponders. The duration of the response was from 2 to 11 months. Procollagen I and III levels were found to be highly abnormal in those with no benefit from Strontium-89 administration but were in the normal range or only slightly elevated in those achieving complete or partial pain control, thus correlating with the clinical response.

[High dose brachytherapy in gynecologic neoplasms. Review of the literature]. / Brachiterapia ad alto dose rate nelle neoplasie ginecologiche. Revisione della letteratura.

The paper reports the historical origins of remote afterloading systems in intracavitary radiotherapy, together with the results and complications of high dose rate brachytherapy in gynecological tumours. High dose rate therapy achieves the same results as low dose rate therapy but has the advantage of making treatment more comfortable for patients.

Scintigraphic oesophageal clearance in diabetics: clinical usefulness.

The whole digestive tract is one of the sites most involved in diabetic autonomic neuropathy. The aim of this work was to validate the clinical usefulness of oesophageal scintigraphy in the early detection of this complication of diabetes. Eighty-one diabetic patients without oesophageal symptoms were studied by solid meal scintigraphic test (SMST) and 35 out of them also by liquid meal scintigraphic test (LMST). As controls, 20 normal volunteers were studied by LMST and 14 by SMST. Forty-seven diabetics studied by SMST were also evaluated by cardiovascular tests (CT) and for the presence of retinopathy and peripheral neuropathy. The most statistically significant difference between diabetics and controls was found at 75s with SMST. SMST results showed a statistically significant correlation with CT. No correlation was found with the presence of retinopathy or peripheral neuropathy. We conclude that SMST is a useful, safe, low-cost diagnostic tool in the detection of diabetic autonomic neuropathy.