PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 2052808

[Mucoviscidosis].

G Casimir
View original source ↗Export metadata ↓

Abstract

Cystic fibrosis is the most frequent autosomic recessive disease in Caucasian population (1/2500). It is characterized by the presence of mucosal plugs in the excretory ducts of the exocrine glands. Pancreatic deficiency with intestinal malabsorption and pulmonary injuries are the main signs of the disease. The liable gene was isolated in 1990 on the long arm of chromosome 7. The abnormal protein could modify the passage of chloride through the epithelia. The text reviews the clinical symptoms of the disease and their treatments. An early diagnosis and treatment improve the prognosis which is primarily very bad because of the pulmonary lesions.

Explore related subjects

Chromosomes, Human, Pair 7Combined Modality TherapyCystic FibrosisDigestive SystemGenetic Carrier ScreeningHumansHypersensitivityLungJournal ArticleReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

G Casimir. 1991. [Mucoviscidosis].. https://pubmed.ncbi.nlm.nih.gov/2052808/

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2006

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

We report on a new duplication case of 7q11.23, reciprocal of the Williams-Beuren (WB) deletion. The patient, a 13-year-old girl, was ascertained within an array-CGH screening of patients with epilepsy and neuronal migration defects. Similarly to the first reported patient, she showed serious difficulties in expressive language in the absence of severe mental retardation and marked dysmorphic features. Magnetic resonance imaging (MRI) of the brain revealed an abnormal development of the cerebral cortex in the left temporal lobe, which showed a simplified gyral pattern, and increased cortical thickness. This finding, which might explain poor language development, suggests that the WB critical region might harbour a dosage-sensitive gene controlling the molecular machinery of neuronal migration, with regional specificity and lateralization. It will be important to confirm our findings in newly diagnosed patients with dup(7)(q11.23). We expect to detect many more patients with the same duplication using widespread clinical implementation of high-resolution genome analysis.

Chromosomes, Human, Pair 7↗
PubMed2006

A clonal translocation (7;8)(p13;q11.2) in a leiomyoma of the vulva.

We present the first case of a vulvar leiomyoma studied by cytogenetics. The tumor formed a 3.0-cm periurethral nodule in a middle-aged woman and was positive for the muscle markers desmin and caldesmon, and for estrogen and progesterone receptors. Its karyotype was 46,XX,t(7;8)(p13;q11.2). This translocation has not been described in previously reported leiomyomas, regardless of their site of origin. The transcription factor PLAG1 gene at 8q12 was not altered by the translocation.

Chromosomes, Human, Pair 7↗
PubMed2006

Osteoarthritis susceptibility loci defined by genome scan meta-analysis.

Genome scans for osteoarthritis (OA) have yielded inconsistent results. The absence of replication of linkage might be due to lack of power of individual studies. A meta-analysis of the published data was performed to assess evidence for linkage of OA across genome scan studies. Three OA whole-genome scans including 893 families with 3,000 affected individuals were used for genome scan meta-analysis (GSMA). A total of 5 bins lie above 95% confidence level (P = 0.05) and 1 bin is above 99% confidence level (P = 0.01) in OA GSMA; bins 7.6 (7q34-7q36.3, Psumrnk = 0.0035), 11.3 (11p12-11q13.4), 6.3 (6p21.1-6q15), 2.8 (2q31.1-2q34) and 15.3 (15q21.3-15q26.1). The highest summed rank was observed at bin 7.6. In conclusion, the OA GSMA has shown chromosome 7q34-7q36.3 with the highest summed rank and four additional loci with significant summed ranks across studies.

Chromosomes, Human, Pair 7↗