Bullous lung disease and neurofibromatosis type-1.

Lung interstitial diseases and bullae are described as possible complications of neurofibromatosis type-1 (NF-1), a genetic disorder inherited as a autosomal-dominant trait. We report the case of a 16-year-old male non-smoker with NF-1, who presented with pneumothorax caused by ruptured lung bullae. The case of this young patient, successfully treated by video-assisted thoracoscopic resection of bullae, supports the concept that pulmonary alterations may be part of the NF-1 syndrome, rather than as an unrelated complication.

Prevalence of heavy smokers in the year 2000 in the province of Varese, Italy.

BACKGROUND: Knowing the prevalence of heavy smokers (HS) by gender and age is a pre-requisite for bringing into effect public health measures against smoking-related diseases. Smoking prevalence data is available for the Italian Regions, however it is generally unknown for the Italian Provinces. METHODS: In the year 2000 a survey of smoking prevalence was conducted by 47 general practitioners (GPs), by personal interview, in a large sample of the Varese Province population 45-74 years of age (28,034 subjects; 13,528 men, 14,506 women). Each surveyed subject was categorised either as ever HS (current/former smoker of at least 10 pack-years) or as non HS. The information on smoking habit collected by the GPs was anonymously pooled for analysis. Prevalence figures of smoking were tabulated by gender and by 5-year age-strata. RESULTS: In the population 45-74 years of age the percentage of ever HS overall was 22.3% (34.4% of men; 11.0% of women). The prevalence of ever HS in both sexes combined progressively decreased with advancing age, from 23.6% (45-49 year stratum) to 19.5% (70-74 year stratum). Current HS were 24.5% of men and 9.5% of women. CONCLUSIONS: The year 2000 survey on smoking habit, showing 22.3% prevalence of ever HS in age range 45-74 years, is the first conducted in the Varese Province using a large population sample. The data on heavy cigarette smoking presented in this paper, stratified by gender and age, may be used to monitor changes in the smoking habit and in the incidence of smoking-related illnesses at the provincial level.

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223.

A male child and his mother who are nullisomic and monosomic, respectively, for the distal portion of Xp because of an unbalanced X-Y translocation were tested for steroid sulfatase activity after clinical examination had yielded evidence for ichthyosis in the boy. Deficiency of steroid sulfatase was found in the male patient, while in his mother enzyme levels were in the heterozygous range. These results, based on cytogenetic evidence obtained with an elongation technique, indicate that the STS locus is at Xp 223.

Reduced phenotypic effect on partial trisomy 1q in a X/1 translocation.

A girl with psychomotor retardation and minor physical abnormalities, had an unbalanced X/1 translocation resulting in a partial trisomy 1q and partial monosomy for Xp. The four cases of partial trisomy for the distal segment of 1q reported in the literature showed a much more severely affected phenotype. In the present case the translocated X/1 chromosome is preferentially late replicating and there is spreading of late replication to the translocated 1q segment only in a minor proportion of the cells. The possibility of a non univocous correspondence between spreading of genetic inactivation and cytological spreading of late replication is discussed.