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F Menu

Publications and source records attributed to F Menu.

5 recordsLinked to original sources
PubMed2003

[Establishing a new severity score for EEC: ectrodactyly-ectodermal dysplasia-cleft lip and palate].

BACKGROUND: EEC (ectodactyly-ectodermal dysplasia-cleft lip and palate) is a rare disease transmitted by autosomal dominant inheritance with variable penetrance and weak expressivity. Clinical expression is thus very variable. Besides the three signs defining the syndrome, other manifestations include anomalous lacrimal ducts, urogenital malformations, transmission deafness, facial dysmorphism, and mental retardation. In 1995, Roelfsema and Cobben established a severity score on the basis of data in the literature. MATERIAL AND METHODS: We analyzed retrospectively the cases of 5 patients followed from 1980 to 2000 in two University Hospitals in France. Malformations were detailed and the Roelfsema and Cobben score was calculated. The real degree of disability was estimated from social activity level. We searched for a correlation between the Roelfsema and Cobben score and the real degree of disability. RESULTS: Our findings showed a poor correlation between disability and the Roelfsema and Cobben score. We proposed a new score which takes into account social disability. DISCUSSION: Our study revealed that the Roelfsema and Cobben score overly emphasizes anatomic malformations without taking into account natural adaptation to the social environment. Inversely, the Roelfsema and Cobben score gives little importance to invisible anomalies despite their invalidating effect.

Abnormalities, Multiple↗
PubMed2003

[Seip Berardinelli: the effect of the partial tongue resection].

The Seip Berardinelli or undiagnosed endocrine metabolic syndrome is a rare autosomal recessive pathology mainly described in families of Portuguese origins. This syndrome presents various metabolic disturbances responsible of various dysmorphies. We report the case of two brothers seen during their childhood for respiratory, speaking and feeding problems related to a class 3 of Angle and macroglossia. The object was to study the interaction between the size of the tongue, the prognathism and the disturbances presented in order to organize early surgery (partial glossectomy).

Child↗
PubMed2001

[Acute carpal tunnel syndrome. A report of an etiological form not previously described].

Acute form of carpal tunnel syndrome is the less common presentation. Several etiologies are known as rheumatologic, hemopathic, endocrine or pregnant disorders and traumatic. Authors report a non yet described traumatic etiology, consecutive to hamate and triquetral fractures. Patient presented five hours after initial traumatism, a typical presentation of median nerve compression at wrist, with subjective and objective symptoms as pathologic Weber test. A classical median nerve release was performed in emergency. Nerve recuperation was complete two days after surgery, as usual in such pathology. This new etiology must be known; actually, nerve recuperation in acute carpal tunnel syndrome is time dependent.

Acute Disease↗
PubMed1996

Cold shock and cold acclimation proteins in the psychrotrophic bacterium Arthrobacter globiformis SI55.

The psychrotrophic bacterium Arthrobacter globiformis SI55 was grown at 4 and 25 degrees C, and the cell protein contents were analyzed by two-dimensional electrophoresis. Cells subjected to cold shocks of increasing magnitude were also analyzed. Correspondence analysis of protein appearance distinguished four groups of physiological significance. Group I contained cold shock proteins (Csps) overexpressed only after a large temperature downshift. Group II contained Csps with optimal expression after mild shocks. Group III contained proteins overexpressed after all cold shocks. These last proteins were also overexpressed in cells growing at 4 degrees C and were considered to be early cold acclimation proteins (Caps). Group IV contained proteins which were present at high concentrations only in 4 degrees C steady-state cells and appeared to be late Caps. A portion of a gene very similar to the Escherichia coli cspA gene (encoding protein CS7.4) was identified. A synthetic peptide was used to produce an antibody which detected a CS7.4-like protein (A9) by immunoblotting two-dimensional electrophoresis gels of A. globiformis SI55 total proteins. Unlike mesophilic microorganisms, this CS7.4-like protein was still produced during prolonged growth at low temperature, and it might have a particular adaptive function needed for balanced growth under harsh conditions. However, A9 was induced at high temperature by chloramphenicol, suggesting that CS7.4-like proteins have a more general role than their sole implication in cold acclimation processes.

Acclimatization↗