Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB63 to chromosome 11q13.3-q13.4.

Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13.3-q13.4 in a large consanguineous Tunisian family. A maximum LOD score of 5.33 was obtained with microsatellite markers D11S916 and D11S4207. Haplotype analysis defined a 5.55 Mb critical region between microsatellite markers D11S4136 and D11S4081. DFNB63 represents the sixth ARNSHI locus mapped to chromosome 11. We positionally excluded MYO7A from being the DFNB63-causative gene. In addition, the screening of two candidate genes, SHANK2 and KCNE3, failed to reveal any disease-causing mutations.

[Iris metastatic thyroid follicular carcinoma: a case report]. / Métastase irienne d'un carcinome folliculaire de la thyroïde: à propos d'un cas.

Metastatic carcinoma of the iris is rare and accounts for 5-10% of uveal metastasis and 3% of all iris lesions. Breast and lung carcinoma are the primary sites in 90% of patients. We report here the case of a 66-year-old man treated in 1992 for follicular thyroid carcinoma and hospitalized in 1995 for a pink vascularized mass in the iris. At that time, neither local recurrence nor metastasis in other organs was observed. Histopathologic findings were typical of follicular thyroid metastasis carcinoma. The patient had refused adjuvant treatment but was followed up for 23 months after the diagnosis of the iris metastasis. Through this observation and a literature review, we discuss clinicopathological and prognosis aspects of this exceptional location.

[Allgrove syndrome. Report on a family]. / Syndrome d'Allgrove: à propos d'une famille.

Triple A or Allgrove syndrome is a rare autosomal recessive disease with alacrima, achalasia, and ACTH-resistant adrenal insufficiency. It is usually associated with neurological disorders. Recently, mutations in the AAAS, a candidate gene mapped to chromosome 12q13, were identified. We report a family with seven affected siblings. All of them have signs of alacrima, four were operated on for achalasia, five have neurological abnormalities including cranial nerve abnormalities, amyotrophic lateral sclerosis, pyramidal syndrome, distal motor neuropathy, and amyotrophy, and two have adrenal insufficiency. Triple A syndrome should be considered in any young patient with alacrima.

[Malassezia fungal blepharitis: a case report]. / Blépharite mycosique à Malassezia: à propos d'un cas.

PURPOSE: Blepharitis is a very common disorder but the role of certain mycoses in the etiopathogenesis of blepharitis remains controversial. OBSERVATION: We report the case of a 29-year-old man presenting with bilateral redness and intense itching of the edge of the eyelid. Slit-lamp examination showed vasodilation of the vessels of the edge of the eyelid associated with seborrhea and a sticky yellowish substance at the roots of the eyelashes. When the substance dried and fell, microulcerations were seen at the base of the eyelids, characteristic of follicular-seborrheic blepharitis. Otherwise the ophthalmological examination was normal. Treatment with eye drops (antibiotics, antiseptics, corticoids, antihistamines) was tried several times. The blepharoconjunctivitis regressed during these treatments without totally disappearing, recurring after the treatment was discontinued. Bacteriological and fungal exams were conducted, showing numerous Malassezia furfur spores and hyphae. Given that there was no antifungal eye drop preparation on the market, topical ketoconazole (Nizoral) was prescribed. Two weeks later, the condition had cleared, with no recurrence after 5 months of follow-up. DISCUSSION: Malassezia is a saprophyte species that may play a role in certain cases of chronic blepharitis, either through a reaction of intolerance and hypersensitivity or occasional proliferation. Treatment consists in eradicating the causal fungus using an antifungal agent associated with symptomatic treatment. We stress that fungal exams should be conducted whenever blepharitis recurs.

[Recurrent toxoplasmic retinochoroiditis after clindamycin treatment]. / Récurrence de la rétinochoroïdite toxoplasmique après traitement par clindamycine.

PURPOSE: To evaluate the efficacy and safety of subconjunctival injections of clindamycin associated with oral corticotherapy in the treatment of toxoplasmic retinochoroiditis (TRC) and its effect on recurrence. PATIENTS AND METHODS: This study investigated 21 patients (10 males and 11 females) who presented to an ophthalmological department from 1995 to 2000, aged 14-55 years (mean, 28 years), with unilateral TRC. They were treated with subconjunctival injections of clindamycin and systemic corticotherapy at a dose of 1 mg/kg/day. Clinical follow-up consisted of assessment of visual acuity and biomicroscopic fundus examination, completed by retinal angiography if necessary. RESULTS: We observed clinical improvement in 68.75% of patients within 4 days and in all patients healing of the chorioretinal area within 1.6 months. During the follow-up period ranging from 6 to 52 months (mean, 22 months), there have been two recurrences (9%) over the first 18 months. Tolerance of the injections was good. Serious side effects were noted in two patients: one case of conjunctival necrosis and one case of corneal and conjunctival erosion. CONCLUSION: In treating ocular toxoplasmosis, clindamycin appears to be a safe and effective substitute for the classic protocol (pyrimethamine-sulfadiazine, pyrimethamine-azithromycin), for which a 50% recurrence rate has been reported. It provides relatively good protection against recurrence and warrants testing in further controlled studies.

[Palpebral seborrheic keratosis: a case study]. / Kératose séborrhéique palpébrale.

INTRODUCTION: Seborrheic keratosis is the most frequent palpebral tumor, observed for the most part in the second half of life. It may be confused clinically with a basal cell carcinoma or a melanoma. The histopathological study confirms the diagnosis. OBSERVATION: A 69-year-old man presented with a giant superior palpebral tumor leading to ptosis of the eyelid, which had evolved over 5 years. Examination found a pigmented cerebriform multilobed granulated mass, with a smooth surface and a more or less seborrheic aspect, pedicled in places, covering the entire eyelid but sparing the internal angle. This aspect suggested melanoma, basal cell carcinoma or seborrheic keratosis. Histological biopsy revealed basal cell carcinoma. Excision with palpebral reconstitution using palpebral flaps was performed. The histopathological analysis of the tumor concluded in seborrheic keratosis. DISCUSSION: Seborrheic keratosis is a frequent tumor of the face and eyelids. Its highly pigmented clinical aspect can be confounded with a nevus or a melanoma, whereas the histological aspect can suggest basal cell carcinoma or squamous cell carcinoma, but the basal membrane is always intact. Several treatments have been proposed, including electrocoagulation, cryotherapy, dermabrasion, as well as CO2 laser treatment. However, when there is doubt with regard to the histological nature, surgery is preferred. CONCLUSION: This was a case of seborrheic keratosis, atypical in that it covered the entire upper eyelid and produced a highly disfiguring aspect and functional problems, requiring surgical treatment with eyelid reconstruction.

[Changes in cerebral calcium, sodium and potassium after single or repeated administration of lithium in the rat]. / Variations du calcium, sodium et potassium cérébral aprés administration unique ou répétée de lithium chez le rat.

A single administration (IP) of lithium chloride in the rat induces a decrease in erythrocyte calcium, proportional to the lithium level (p less than 0.01) and a diminution in cerebral calcium (p less than 0.001) which is accompanied by decrease in cerebral sodium and potassium levels (p less than 0.001). Repeated administration (IP + VO) has the same cerebral effects. The authors report that the reversible decrease in calcium, sodium and potassium, resulting from an increase in cerebral lithium levels, can be demonstrated on sampling at 1.30 and 3 hours (IP), or at 12 hours (VO). These results are relevant to the treatment of manic illnesses using calcium antagonists.