Search PubMed⌕ Search

Biomedical subjects

M F Avril

Publications and source records attributed to M F Avril.

138 records · Page 8Linked to original sources

Clq deposits at the dermoepidermal junction: a marker discriminating for discoid and systemic lupus erythematosus.

Discoid lupus (DL) and systemic lupus erythematosus (SLE) patients have been comparatively evaluated for complement and immunoglobulin deposits at the dermoepidermal junction (DEJ) by immunofluorescence (IF). When IF was positive, Clq deposits were quasi-constantly found in SLE patients with or without skin lesions (90%), while Clq was found in only 29% of the DL patients. Of the 42 DL patients followed-up to at least 2 years, 4 have eventually evolved a systemic disease. In these 4, neither cryoglobulinemia nor significant titers of ANA had been found at the time of presentation. Only 1 of these 4 patients had initially circulating immune complexes (P.E.G) and a positive IF in a normal sunprotected area. Clq deposits at the DEJ were present in all these 4. Of the remaining 38 DL patients, none has progressed to SLE: 8 had had significant titers of ANA, 5 had had circulating immune complexes, and 3 others had had cryoglobulinemia. Thus Clq deposits in DL cases are associated with a relatively high incidence of eventual systemic disease. Taken together, these data suggest that Clq deposits in skin may be a marker for systemic lupus.

Adolescent↗

Cerebrospinal fluid penetration of mezlocillin.

The passage of 6-[(R)-2-[3-methylsulfonyl-2-oxo-imidazolidine-1-carboxamido]-2-phenyl-acetamido)-penicillanic acid sodium salt (mezlocillin, Baypen), into the CSF was studied in 9 patients with symptoms of acute meningitis, presumed to be of viral origin. The antibiotic was given as a single 5 g dose i.v. over 30 min. The CSF/serum concentration ratio of mezlocillin showed a variation from 0 to 10.7%. The antibiotic could be effective in the treatment of bacterial meningitis caused by ampicillin-resistant strains of Haemophilus influenzae and by most Enterobacteriaceae, provided these results will be confirmed by a study now in progress. In one patient suffering from meningococcal meningitis this concentration ratio varied between 72% (day 3) and 54% (day 12).

Adolescent↗

[Continued complete remission of Merkel cell carcinoma with in-transit metastasis after treatment with isolated limb perfusion regional chemotherapy].

BACKGROUND: Primitive cutaneous neuroendocrine carcinoma or Merkel cell carcinoma is a rare tumor. It may be large since diagnosis is frequently delayed. The usual treatment is extensive surgical removal and radiotherapy. PATIENTS AND METHODS: A 69-year-old woman presented with a large Merkel cell carcinoma of the right leg. MRI showed a tumor invading the deep layers together with several satellite lesions. There was no regional nodal or visceral metastasis. Regional chemotherapy involving isolated limb perfusion with melphalan was performed in order to avoid amputation. Complete response was achieved a few months later and continues 5 and a half years later with minor sequelae comprising cutaneous sclerosis, pigmentation and mild ankle stiffness. DISCUSSION: Only five cases of Merkel cell carcinoma treated with isolated limb perfusion are reported in the literature: four of these involved local relapse and one was a primary tumor with regional lymph node involvement. Only one patient was still in complete remission 18 months after treatment. Isolated limb perfusion chemotherapy could thus be indicated in the treatment of advanced Merkel cell carcinoma of a limb in the absence of bone or regional lymph node involvement.

Aged↗

Value of high-frequency US for preoperative assessment of skin tumors.

The purpose of this study was to evaluate the accuracy of high-frequency ultrasound (US) in the preoperative assessment of skin tumors. A US scanner with a 20-MHz probe was used to visualize and evaluate 70 skin lesions (38 clinically suspected melanomas and 32 suspected basilar cell carcinomas [BCCs]) before surgical resection. A US morphologic study and a Doppler analysis of vascularity were performed for each tumor. Of the 70 tumors, 62 were clearly visualized, including 19 melanomas, 12 nonmalignant nevi, and 31 BCCs. Most lesions were hypoechoic. In 13 of 19 proved melanomas, the difference between the histologic and US measurements was equal to or less than 0.2 mm. Vessels were visualized in melanomas with thicknesses greater than 3 mm. All BCCs were visualized, and in 29% of cases of BCC, tumor size at US was greater than that at clinical examination. High-frequency, high-resolution US is a simple, reliable, noninvasive method for accurate preoperative assessment of skin tumor dimensions. This technique allows surgical planning to be adapted and reexcision to be avoided. However, its role is limited in the differential diagnosis of malignant and benign skin lesions.

Basal Cell Carcinoma↗

[Muir-Torre syndrome and familial colorectal cancer: 2 families with molecular genetic analysis].

INTRODUCTION: The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of cutaneous tumors (such as sebaceous adenomas, epitheliomas, or carcinomas, and/or keratoacanthomas), and internal malignancies. Recently, molecular analysis in hereditary non polyposis colorectal cancer demonstrated a common genetic basis, linking these two disorders, with the observation of germline mutations in the hMSH2 gene (one of the DNA mismatch repair system genes) in both syndromes. Such molecular demonstration of a single nosological entity should be clinically used to improve the indications of molecular testings in oncogenetics, still restricted to highly stringent criteria for hereditary non polyposis colorectal cancer. CLINICAL CASES: We identified three patients from two different families, who fulfilled the criteria for both Muir-Torre Syndrome and hereditary non polyposis colorectal cancer. The search of a germline mutation of the hMSH2 gene was performed on an affected member from each family, and their relatives with their informed consent. Within each family, all individuals with colorectal cancer were carriers of the same mutation. In the first family, this mutation was a pathogenic microinsertion, usable for predictive testing. In the second family, a missense mutation was identified, requesting further demonstration of its pathogenicity before its use in a predictive purpose. CONCLUSIONS: The diagnosis of cutaneous tumors compatible with Muir-Torre syndrome should lead the dermatologist to suspect an hereditary non polyposis colorectal cancer that should bring to an oncogenetic approach: personnal and familial history of colorectal cancer, molecular analysis, recommendations for colonoscopic screening in at-risk relatives. In the case of a colorectal cancer at a young age, or in the case of familial cases, the gastroenterologist should screen for cutaneous lesions of Muir-Torre syndrome, which could add a criteria for an hereditary syndrome, and lead to molecular oncogenetic analysis.

Adenoma↗

[Buschke-Loewenstein's tumor].

Buschke-Loewenstein tumour, also called giant condyloma acuminatum, is located on the external genitalia and in the perineal region. It presents as a craggy, burgeoning and locally invasive mass that looks clinically worrying. Histology shows a classically benign papillomatous proliferation, but transformation into invasive carcinoma occurs in about one-third of the cases. Local penetration and sometimes focal cytological atypias have prompted certain authors to use the term verrucous carcinoma. Virological studies have demonstrated the presence, in some of the tumours analysed, of human papilloma virus type 6 and/or 11 DNA appearing as free episomes non integrated within the cellular genome.

Adolescent↗