Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened. All cases had been interpreted as "balanced" by conventional cytogenetics. In all, 27 cases of reciprocal translocations were detected in patients with an abnormal phenotype, and after array CGH analysis, 11 were found to be unbalanced. Thus 40% (11 of 27) of patients with a "chromosomal phenotype" and an apparently balanced translocation were in fact unbalanced, and 18% (5 of 27) of the reciprocal translocations were instead complex rearrangements with >3 breakpoints. Fourteen fetuses with de novo, apparently balanced translocations, all but two with normal ultrasound findings, were also analysed and all were found to be normal using array CGH. Thirteen CCRs were detected in patients with abnormal phenotypes, two in women who had experienced repeated spontaneous abortions and three in fetuses. Sixteen patients were found to have unbalanced mutations, with up to 4 deletions. These results suggest that genome-wide array CGH may be advisable in all carriers of "balanced" CCRs. The parental origin of the deletions was investigated in 5 reciprocal translocations and 11 CCRs; all were found to be paternal. Using customized platforms in seven cases of CCRs, the deletion breakpoints were narrowed down to regions of a few hundred base pairs in length. No susceptibility motifs were associated with the imbalances. These results show that the phenotypic abnormalities of apparently balanced de novo CCRs are mainly due to cryptic deletions and that spermatogenesis is more prone to generate multiple chaotic chromosome imbalances and reciprocal translocations than oogenesis.

Prenatal diagnosis of a de novo satellited chromosome 18 (18ps) associated with 18p deletion.

De novo satellited non-acrocentric chromosomes are very rare findings in prenatal diagnosis. Here we report the first case of a de novo 18ps, associated with del(18p), detected at prenatal diagnosis. A 37 years old woman underwent Chorionic Villus Sampling (CVS) for advanced maternal age. Cytogenetic analysis on direct CVS preparation (CVSc) revealed a male karyotype with a nonfamilial satellited 18ps and a reciprocal translocation t(17;19)(P11.1;q11) of maternal origin. The mesenchimal CVS culture (CVSm) showed a mosaic of cell lines with various involvement of chromosome 18: 18ps [36/70]/ r(18) [25/70]/ del(18p) [3/70]/ -18 [6/70]. Amniotic fluid cells (AFC) confirmed the homogeneous karyotype found at CVSc. The molecular cytogenetic characterization, performed on AFC, allowed the following diagnosis: 46,XY, +15, dic(15;18)(p11.1;p11.2), t(17;19)(p11.1;q11)mat. ish dic(15;18)(tel 18p-, D15Z1+, wcp18-, wcp 18+, D18Z1+, tel 18q+). The foetal autopsy disclosed subtle facial dysmorphisms and corpus callosum hypoplasia. In case of prenatal detection of de novo terminal ectopic NORs an accurate cytogenetic and molecular analysis should be performed in order to rule out subtle unbalancements.

Met-enkephalin enhances follicle-stimulating hormone-dependent progesterone production from cultured granulosa cells.

beta-Endorphin (beta-EP) and methionine-enkephalin (Met-Enk) have been detected in human follicular fluid in concentrations several times higher than those in plasma. These data stimulated us to study the possible physiological role of ovarian opioids. We, therefore, determined the effects of both beta-EP and Met-Enk, alone or in combination with naloxone, on FSH-induced progesterone (P) secretion by cultured granulosa cells. Granulosa cells were collected from follicular fluid recovered at laparoscopy in seven superovulated women. The cells were preincubated with RPMI-1640 medium containing 20% fetal calf serum in 5% CO2 for 48 h, followed by the addition of 100 mU purified FSH and the various test substances for 48 more h. beta-EP (10 nM to 1 pM) had no effect on P secretion either alone or in combination with FSH and/or naloxone. Micro- to picomolar amounts of Met-Enk increased FSH-induced P secretion up to 186.9 +/- 35.1% (+/- SEM). Met-Enk had no affect in the absence of FSH, and its action was significantly blunted by the concomitant addition of 10(-5) M naloxone. These data provide evidence for a dose-dependent naloxone-reversible synergistic action of Met-Enk and FSH on P secretion by cultured granulosa cells. This finding supports the hypothesis of the existence of an ovarian opioid system.

Reproducibility of 6- and 4-category faces pain scale to the assessment of temporomandibular joint pain and muscle in school-age children.

OBJECTIVE: The aim of this study was to compare the levels of reproducibility between two Faces Pain Scales (FPS) of 6 and 4 categories to the assessment of pain intensity on children with and without Temporomandibular joint and muscle pain. MATERIAL AND METHODS: A total of 29 children were recruited: 13 symptomatic (9.79 ± 1.36 years old) and 16 asymptomatic (8.69 ± 0.87 years old). One previously-trained examiner applied manual palpation to evaluate orofacial structures, and FPS to assess pain intensity. All children were initial evaluated using 6-category FPS and after 3 days using 4-category FPS. The children were assessed after a seven day time interval from initial and second sessions. Weighted Kappa coefficient was used to verify reproducibility levels. RESULTS: Similar levels of reproducibility (moderate and fair kappa values) have been verified with the application of the 6-category FPS on symptomatic and asymptomatic children. Similar results were verified using 4-category FPS on symptomatic and asymptomatic children (poor and fair kappa values). CONCLUSION: Higher levels of reproducibility were verified with the application of the 6-category FPS in both groups and considering symptomatic and asymptomatic as single group. In this way, the 6-category FPS should be preferred over the 4-category FPS to assess pain intensity on children's orofacial structures.

[Echo-assisted percutaneous nephrolithotomy in the supine position. Technical notes].

The adoption of supine position in percutaneous nephrolithotomy and the routine use of echography during the procedure allow for a reduction of surgical time, radiological exposure of patient and surgeons, and of anaesthesiological risks; moreover, it permits a combined anterograde-retrograde approach to the kidney in case of very complex lithiasis. The urologist's knowledge and experience of echography devices allows for a high lowering of the learning curve time.

Detection of glomerular bleeding by urinary-red-cell-size distribution.

Midstream urine specimens from 60 consecutive patients with hematuria were examined with an autoanalyzer to determine whether the source of bleeding could be predicted on the basis of the size distribution of urinary red blood cells. In 54 patients a definite diagnosis was made which correlated with the urinary-red-cell-size distribution in 93.7% (15/16) of cases for whom hematuria was considered to be glomerular and in 100% (38/38) of cases of nonglomerular hematuria. It is concluded that this method can greatly help the clinician in distinguishing between glomerular and nonglomerular bleeding in patients with hematuria and channeling such patients towards the most appropriate investigations.

[Cytogenetic analysis of 19 renal cell tumors]. / Studio citogenetico di 19 casi di neoplasie renali.

To further evaluate the role of cytogenetic analysis we studied 19 cases of renal neoplasms. Specific chromosomal aberrations have been demonstrated associated with different histologic types. Particularly, clear cell renal cancers were associated with deletions of the short arm of chromosome 3 and papillary renal cell cancers demonstrated multiple trisomies, and chromophobe cancers and oncocytomas were characterized by loss of whole chromosomes. The utility of cytogenetics as a tool to define the pathological spectrum of renal cell neoplasms is stressed.