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PubMed2004

[Contribution of maxillofacial signs in the diagnosis of Gardner syndrome].

Familial adenomatous polyposis (FAP) and Gardner syndrome are mendelian dominant inherited conditions. Both diseases are linked to mutations on the long arm of chromosome 5 (5q21) referred to as the adenomatous polyposis locus. Gardner syndrome involves endodermal, mesodermal and ectodermal layers. Nondigestive and maxillofacial lesions such as osteomas, odontomas, epidermoid inclusion cysts can disclose the syndrome. Colorectal cancer is the most important factor of prognosis.

Child, Preschool↗
PubMed2000

Industrial fluorosis in cattle and buffalo around Udaipur, India.

Signs of dental discolouration, difficulty in mastication, bony lesions, lameness, debility and mortality in domesticated animals, reared around superphosphate fertiliser plants located approximately 15 km north of Udaipur, Rajasthan prompted us to investigate for the occurrence of fluorosis. Out of 166 animals clinically examined, the prevalence rate was 17.4% (4/23) in calves below 1 year of age, 37.2% (16/43) in cattle between 1 and 3 years, 61.3% (46/75) in cattle above 3 years and 72% (18/25) in buffalo above 1 year. Dental fluorosis was common in buffalo compared to cattle of all the age groups. Fluoride levels in fodder and water, consumed by the animals were much higher than the recommended permissible limit. Mean fluoride concentrations in serum and urine were 1.53 +/- 1.27 and 26.4 +/- 6.17 mg l(-1) in calves below 1 year of age, 0.56 +/- 0.17 and 26.2 +/- 3.86 mg l(-1) in cattle of 1-3 years, 0.49 +/- 1.13 and 27.5 +/- 4.63 mg l(-1) in cattle above 3 years and 0.60 +/- 0.07 and 28.6 +/- 4.73 mg l(-1) in buffalo over 1 year, respectively. The values were significantly (P < 0.01) higher than those of control animals kept over a 15-km distance from the factories. Fluoride concentrations in the environmental sample collected from the affected locality were 534.4 +/- 74.9 mg kg(-1) in fodder, 1.19 +/- 0.29 mg l(-1) in pond water and 0.479 +/- 0.351 mg l(-1) in tube well water. It was concluded that the consumption of fodder and water contaminated by the fumes and dusts emitting from superphosphate fertiliser plants resulted in the development of chronic fluorotic lesions in cattle and buffalo.

Air Pollutants↗
PubMed1976

HLA-B27 and modified bone formation.

Of the many associations between histocompatibility antigens and human diseases a prominent one is that between HLA-B27 and inflammatory arthropathies. Hypotheses to explain this association include the B27 gene being linked to a specific immune-response gene required for disease expression and the B27 antigen acting via molecular mimicry with a microorganism or as a microorganism receptor. Alternatively, the HLA-B27 gene might be closely related to a gene which influences bone formation. The finding of a significant association between B27 and Forestier's disease, a disease characterised by abundant new bone formation, supports such a hypothesis.

Aged↗
PubMed2002

Novel translocation (9;12)(q22;q24) in secondary chondrosarcoma arising from hereditary multiple exostosis.

We report a new translocation in a patient with a history of hereditary multiple exostosis (HME) who developed a recurrent grade I chondrosarcoma involving the sacrum and retroperitoneum. Karyotypic analysis of the tumor revealed a sole chromosome abnormality t(9;12)(q22;q24.3). To our knowledge, this translocation has not been previously identified in either chondrosarcoma, HME, or related tumor types. Our novel translocation may be related to the sarcomatous degeneration of the pre-existing exostosis.

Adult↗
PubMed1984

Isotretinoin therapy is associated with early skeletal radiographic changes.

Eight patients with disorders of keratinization (six with ichthyosis, one with Darier's disease, and one with palmar-plantar keratoderma) were treated with isotretinoin for 9 months (1 patient) to 1 year (7 patients). The patients ranged from 5 to 26 years of age. The average isotretinoin dose was 2 mg/kg/day (range, 1.0-2.9 mg/kg/day). Radiographic skeletal surveys were performed prior to therapy, and after 6 months and 1 year of therapy. After 1 year of isotretinoin treatment, six of the eight patients had small but unequivocal skeletal hyperostoses. Five of the patients had multiple hyperostoses. While only two patients were judged to have hyperostoses after 6 months of isotretinoin therapy during prospective evaluation, retrospective comparison with the radiographs obtained after 1 year revealed skeletal hyperostoses after 6 months of treatment in an additional three patients. Between 6 months and 1 year of therapy, some of the hyperostoses remained unchanged while others had progressed. In three patients, hyperostoses were seen at 12 months that were not detectable at 6 months. Based on this prospective study of skeletal changes during isotretinoin therapy, we recommend that patients taking high doses of isotretinoin for long periods be monitored radiographically.

Adolescent↗
PubMed1997

Drill-induced hearing loss in the nonoperated ear.

The reversible hearing loss in the nonoperated ear noted by patients after ear surgery remains unexplained. This study proposes that this hearing loss is caused by drill noise conducted to the nonoperated ear by vibrations of the intact skull. This noise exposure results in dysfunction of the outer hair cells, which may produce a temporary hearing loss. Estimations of outer hair cell function in the nonoperated ear were made by recording the change in amplitude of the distortion-product otoacoustic emissions before and during ear surgery. Reversible drill-related outer hair cell dysfunction was seen in 2 of 12 cases. The changes in outer hair cell function and their clinical implications are discussed.

Acoustic Stimulation↗
PubMedDate not supplied

Modiolar microexostoses with neural impingement and hearing loss in guinea pigs.

Sensorineural hearing loss resulting from auditory nerve impingement due to temporal bone abnormalities may occur in patients with osteitis deformans, osteopetrosis, other osseous abiodystrophies, and aging. In experimental animals, vitamin A deficiency and normal aging may result in temporal bone abnormalities; however, these bony changes have not been associated with sensorineural hearing loss. In assessing 27 Hartley guinea pigs prior to ototoxicity studies, two 33-week-old female animals, when tested for Pryer reflex and brainstem auditory-evoked responses, were found to have severe bilateral sensorineural hearing loss. Histologic studies of temporal bones from these animals showed marked abnormalities. The cochleas demonstrated accumulations of osteoid and newly formed bone in the modioli that extended along the osseous spiral laminae with irregular bony projections appearing as microexostoses, which at times bulged into the scala tympani and involved the basilar membrane. There was also neuronal depopulation and decreased dendrites associated with the bony impingement. The findings in these guinea pigs suggest a familial disease characterized by abnormal bone formation in the cochlea resulting in neural impingement and sensorineural deafness.

Animals↗
PubMed1992

Subungual exostosis in the hand.

Although it is thought to be a relatively common tumour, only 34 positively identified cases of subungual exostosis in the hand have been found in the literature to date. 16 further cases are reported, making this the largest published series. Seven cases presented with an incorrect diagnosis. An X-ray easily differentiates the tumour from an osteochondroma of the distal phalanx, a spike of bone from a crush injury, or a response to a penetrating injury called a turret exostosis. Removal of the deformed nail and excision of the mass from the distal phalanx produces a useful finger without pain, tender scar, or resultant nail deformity. No case of malignancy has ever been reported.

Exostoses↗
PubMed1995

Scaphoid exostosis and radio-carpal osteoarthrosis.

We report seven patients (eight wrists) with osteoarthrosis of the wrist associated with an exostosis arising from the dorsal aspect of the scaphoid. We believe that the exostosis is secondary to impingement of the scaphoid on the radial styloid process and is a consequence rather than a cause of osteoarthrosis. Conservative management is advised.

Adult↗
PubMed1996

Scaphoid osteochondroma mimicking carpal coalition.

We present the case of a 10-year-old girl who presented with a block to wrist abduction. Plain radiographs of the wrist suggested a coalition between the carpal bones. A CT scan, however, revealed the presence of an osteocartilaginous lesion on the distal pole of the scaphoid. This was resected and histology showed it to be an osteochondroma.

Bone Neoplasms↗