ABSTRACT
BACKGROUND: Li-Fraumeni syndrome greatly increases the risk of developing several types of cancer and is usually caused by TP53 germline mutations. Predictive testing of at-risk family members is only offered after a complex genetic counselling process. Recently the clinical implementation of array comparative genomic hybridisation (CGH) has revolutionised the diagnosis of patients with syndromic or non-syndromic mental retardation and has evolved to a routinely performed high resolution whole genome scan. METHODS AND RESULTS: When using array CGH to identify the cause for mental retardation in a 7-year-old child we found a submicroscopic de novo deletion of chromosome 17p13.1, which includes several genes likely to be causative for her phenotype, and also of TP53. CONCLUSION: Thus, array CGH resulted in an unintended predictive diagnosis of an increased tumour susceptibility as observed in Li-Fraumeni syndrome.
Subject(s)
Chromosome Deletion , Comparative Genomic Hybridization/methods , Li-Fraumeni Syndrome/genetics , Mutation , Tumor Suppressor Protein p53/genetics , Base Sequence , Child , Chromosome Breakage , Chromosomes, Human, Pair 17/genetics , DNA Mutational Analysis , Female , Genetic Predisposition to Disease , Humans , In Situ Hybridization, Fluorescence , Li-Fraumeni Syndrome/complications , Li-Fraumeni Syndrome/diagnosis , Molecular Sequence Data , Neoplasms/etiology , Neoplasms/geneticsABSTRACT
In this study, a "green chemistry" approach was developed as an option for remediation of toxic mercury in the environment. Twenty mercury compounds were treated with an environmentally friendly agent cyclodextrin to produce stable non-toxic mercury in soil and water. The binding efficiency was determined using high performance liquid chromatography with diode-array detection. The stability of the cyclodextrin mercury complexes toward environmental microorganisms in water was estimated under OECD guidelines using gas chromatography-mass spectrometry. The toxicity of the cyclodextrin mercury compounds to terrestrial organisms was investigated by use of internationally recognized toxicity methods using mercuric acetate as a model contaminant. Key process conditions, for example pH, temperature, and amount of detoxifying agent were investigated and found to have significant effects on the toxicity of mercury. It was found that organic and inorganic mercury pollutants could be mineralized in the environment with cyclodextrins. The bound mercury compounds resisted biodegradation and were found to be non-toxic to environmental microorganisms under laboratory conditions.
Subject(s)
Cyclodextrins/chemistry , Environmental Pollutants , Mercury/chemistry , Bacteria/drug effects , Dose-Response Relationship, Drug , Environmental Pollutants/toxicity , Fungi/drug effects , Germination/drug effects , Hordeum/drug effects , Hydrogen-Ion Concentration , Mercury/toxicity , Organomercury Compounds/chemistry , Organomercury Compounds/toxicity , Seeds/drug effects , Seeds/physiology , Soil/analysis , Temperature , Time Factors , Water/chemistryABSTRACT
Ultrasound examination of the gallbladder was performed in a prospective study (from 1985 to 1988) of 14,841 consecutive patients. Polypoid changes were found in 224 (129 men, 95 women; mean age 54 [18-88] years), sonographically classified as cholesterol polyps in 212, as polypoid lesions of uncertain benignity in 12. Mean observation time of 92 patients with cholesterol polyps was 9 (3-48) months. In six the polyp diameter increased by up to 5 mm: only two of them were operated upon and the diagnosis was confirmed in both. A total of 21 patients suspected of having cholesterol polyps were operated upon, the diagnosis confirmed in 17, chronic cholecystitis in two and, in one case each, thickened wall-adherent bile or wall-adherent concrements as cause of the ultrasound changes. Six of the 12 patients with polypoid lesions of uncertain benignity were operated upon: two had an adenoma, one each had tissue heterotopy, malignant melanoma metastasis, gall-bladder carcinoma and adenomyomatosis.
