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Biomedical subjects

A M Schmitt

Publications and source records attributed to A M Schmitt.

8 recordsLinked to original sources
PubMed2005

No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma.

Germline mutations of the three succinate dehydrogenase subunits SDHB, SDHC and SDHD have recently been associated with familial pheochromocytoma and paraganglioma. Several reasons make these genes candidate tumor suppressor genes for medullary thyroid carcinoma (MTC): (1) SDHB lies on chromosome 1p, the region known to be deleted most frequently in MTC, (2) MTCs develop from neural crest-derived cells, as do pheochromocytomas and paragangliomas and (3) patients with germline mutations of the Ret-protooncogene develop MTCs as well as pheochromocytomas, indicating a relationship of these tumors on a genetic level. Therefore, we attempted to determine whether the tumor suppressor genes SDHB, SDHC and SDHD are involved in sporadic and familial MTC. Somatic mutations of the SDH subunits were absent in all 35 investigated MTCs. Loss of heterozygosity was found in 27% (SDHB) and 4% (SDHD) respectively. While the frequency of non-coding, intronic polymorphisms did not differ in MTC patients compared with a control population, an accumulation of amino-acid coding polymorphisms (S163P in SDHB as well as G12S and H50R in SDHD) was found among MTC patients especially patients with familial tumors, suggesting a functional connection of coding SDH polymorphisms to activating Ret mutations.

Adult↗
PubMed1997

[Subungueal exostosis of fingers in hereditary multiple exostosis. 3 cases].

INTRODUCTION: The multiple exostosis syndrome is a rare disease transmitted by autosomal dominant inheritance. Bone growth projecting outward from the long bones is observed in multiple localizations during growth. Prognosis of this benign disease is worsened by the possibility of chondrosarcoma. We report three cases of subungueal exostoses observed in children revealing hereditary exostosis. CASE REPORTS: Clinical examination evidenced progressive deformation of several fingers. In all three patients. There was subungueal tumefaction raising a fissured nail with longitudinal crests. In two cases there were also skeletal deformations. Radiograms showed multiple exostoses of the long bones in all three cases and in one a tumefaction of the scapula in addition to visualizing the subungueal exostoses. There was a family history of such manifestations in all cases. DISCUSSION: Subungueal exostosis is frequent in young adults, usually located in the large toe. These three observations were particularly interesting due to the subungueal localization during the first decade of life. Such localization are rare and usually concern several fingers.

Adolescent↗
PubMed1994

[Multicenter histiocytosis].

INTRODUCTION: Multicentric histiocytosis is a rare systemic disease with active episodes and prolonged periods of remission. Immunosuppressor treatment (alkylating agents) can be effective. CASE REPORT: A new case of multicentric histiocytosis was observed in a 38-year-old man who was successfully treated with cyclophosphamide at the dose of 100 mg/d. Treatment was withdrawn after several weeks due to drug-induced hepatitis and replaced with chlorambucil at the dose of 0.1 mg/kg/day for 6 months. No relapse has occurred after a follow-up of 14 months. DISCUSSION: This case is particularly interesting because of the exceptional nature of spontaneous haemarthrosis which was the inaugural sign of joint manifestations with mediastinal lymph nodes and initially isolated pruritus occurring before the typical skin manifestations. Different management protocols have been discussed with emphasis on the presence of acute cyclophosphamide induced hepatitis. This immunosuppressor is not usually hepatotoxic. CONCLUSION: This case demonstrates the systemic nature of the disease and emphasizes the beneficial effect of alkylating agents.

Adult↗
PubMed1978

Aerobic bacterial flora of oral and nasal fluids of canines with reference to bacteria associated with bites.

Oral and nasal fluids of 50 dogs were examined to determine the prevalence of aerobic bacteria frequently associated with animal bite wounds. The most frequently isolated microorganisms included: IIj, EF-4, Pasteurella multocida, Staphylococcus aureus, Staphylococcus epidermidis, group D streptococci, Corynebacterium sp., Enterobacteria, Neisseria sp., Moraxella sp., and Bacillus sp. Other species and genera were infrequently recovered and may represent transient flora. The high incidence of IIj, EF-4, P. multocida, and S. aureus, all known human pathogens, suggests that they should be considered as probably contaminants in bite wounds.

Aerobiosis↗