Severe idiopathic pulmonary fibrosis: A clinical approach.

Idiopathic pulmonary fibrosis (IPF) is a devastating progressive disease associated with a high mortality rate. Novel antifibrotic therapies have been recently demonstrated to slow disease progression and improve survival. However, the management of IPF remains a difficult challenge, since lung complications can still occur, particularly in patients with advanced-stage disease. This paper highlights the most common complications and difficult tasks related to severe IPF such as acute exacerbation of the disease, development of lung cancer, rapid disease progression, and indication for lung transplantation.

Molecular cytogenetics, RFLP analysis and clinical characterization of a de novo trisomy 10p case.

A new case of a de novo trisomy 10cen-->10pter is described. The karyotype was exactly defined by high resolution banding and FISH analysis; the chromosome aberration was of maternal meiotic origin as demonstrated by RFLP analysis. Clinical data are reported and correlated with other trisomy 10p cases from the literature. A critical review of the literature was made to define the phenotype of trisomy 10p syndrome.

Cytogenetic and interphase FISH analyses of 73 basal cell and three squamous cell carcinomas: different findings in direct preparations and short-term cell cultures.

Cytogenetic analysis performed on 73 sporadic basal cell carcinomas (BCCs) and three squamous cell carcinomas (SCCs) showed different findings in direct preparations (24 hours) and in short-term cell cultures. Except for loss of the Y chromosome, not one of the other clonal (+6, +16, add(2)(q37), del(3)(q13), add(1)(p31), and near triploidy) or sporadic changes found in direct preparations was found in cell cultures and vice versa. Clonal trisomy 6 found in two BCC direct preparations and demonstrated by interphase fluorescence in situ hybridization in 8 other cases seems to be a nonrandom change in basal cell carcinoma. Immunohistochemistry showed that the cell type investigated was different in the two methods of analysis used: epithelial in direct preparations and fibroblastic in cell cultures. Thus, the results obtained in direct preparations indicate the BCC or SCC epithelial karyotype, whereas the aberrations found in cell cultures indicate the presence of chromosome instability in the fibroblastic stroma. The apparent lack of correspondence between direct and indirect preparations and the presence of clonal chromosome changes in both epithelial and stromal cells suggest tumor cell heterogeneity of BCC. The fibroblastic stroma seems to be implicated in the neoplastic process. This is not evident in SCC, in which clonal changes are present only in direct preparations. The chromosomal distribution of the breakpoints involved in structural changes in direct and cell culture preparations is random; together with those reported in the literature, the breakpoints found in BCC cultures show, however, a cluster to 1p36, 3q13, 9q22, 14p11, 15p11, and Xp11 bands. We did not find any significant correlations between BCC cytogenetic results and the clinical data (site, age, sex, recurrence). The incidence of cases of BCC (38%) and of SCC (100%) showing clonal chromosome changes agree with their benign and malignant nature, respectively. Finally, a significantly high incidence of constitutional inv(9) and dup(9)(q11q21) was found in the group of patients with BCC.

Cytogenetic and interphase cytogenetic analyses reveal chromosome instability but no clonal trisomy 8 in Dupuytren contracture.

The results of cytogenetic and FISH analysis performed in 26 cases of Dupuytren contracture are reported. Clonal or sporadic chromosome changes were found in 18 cases (69%). Clonal changes consisted of: +2, +16, -10, -Y, add(1)(p23), del(2)(q21), t(3;16)(p21;q24), add (3)(p24), del(18)(q21), t(Y;14)(p12;q24), +mar. The results differ from those obtained in normal palmar fascia used as control, in which -Y and +Y were the only clonal changes found in 2 of 11 analyzed cases (18%). No clonal trisomy 8 was found. FISH analysis performed in 11 cases (centromeric probe specific for chromosome 8) failed to show the presence of a cell population with +8. Clonal and sporadic structural changes were different from case to case and no clustering breakpoint was observed. The significance of the chromosome instability leading to clonal and sporadic chromosome changes not specific to Dupuytren contracture are discussed.

Clonal chromosome changes in non-neoplastic ureters.

Cytogenetic analysis was performed on 23 samples from non-neoplastic ureters. Clonal chromosome abnormalities were found in eight. They were: loss of Y chromosome, as a single abnormality (five cases) or associated with trisomy 10 and 20 (one case) or with trisomy 2 (one case); and duplication of Y chromosome (one case). Different numerical and structural sporadic abnormalities were found in nine cases. Immunohistochemical analysis and direct observation using the inverted microscope showed that the cells were mainly of the fibroblastic type. FISH analysis with chromosome 7 alpha-satellite probes failed to detect the presence of trisomy 7 in three epithelial cases tested.

Chromosome changes in lymphocytes of patients with scleroderma.

The authors have analyzed cytogenetically 28 cultured lymphocytes from females with Diffuse Scleroderma and 28 female controls between 30 and 70 years of age. Recurrent chromosome abnormalities were +8, +X, -X, and the PCD(X) phenomenon. Triplo X cells were significatively more frequent in patients than in controls. The incidence of +X and PCD(X) was significatively higher in the patients between 30 and 50 years of age, while the frequency of -X cells was higher in controls than in patients. None of these chromosome changes was correlated with the presence of anticentromere antibodies (ACA) in the patients' serum. Random structural chromosome abnormalities were also observed in the patients, but no break point clustering was observed. The incidence of chromosome breaks was significatively higher in patients than in controls. These data suggest a general tendency of females with Scleroderma to develop X polisomies and +X and the PCD(X) phenomenon may be considered Scleroderma related in younger patients.

Double depression in adolescent substance users.

One hundred adolescent substance users were interviewed in a youth drop-in counseling center. The results indicated that 16% of the sample suffered from a nontransitory type of depression with a duration of at least one year with a superimposed major depressive disorder. The group with such double-depression was found to include significantly more alcohol dependent individuals as well as amphetamine abusers. The study gives further support to the DSM-III notion that depression is associated with substance use in adolescents.