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2.
J Otolaryngol Head Neck Surg ; 38(1): 23-8, 2009 Feb.
Article in French | MEDLINE | ID: mdl-19344609

ABSTRACT

INTRODUCTION: In spite of the current effectiveness of antibacillary chemotherapy in most tubercular sites, peripheral lymph node involvement continues to pose a challenge to treatment. PATIENTS AND METHODS: It is a retrospective study, from 2002 to 2005, of 326 patients treated at the otorhinolaryngology department of Hassan II University Hospital, Fez, Morocco, for cervical lymph node tuberculosis. RESULTS: The tuberculosis of lymph nodes accounts for more than 23% of all affections managed in our department. The mean age of our patients was 32 years. A slight female predominance was noted. All of our patients benefited from surgery with diagnostic and/or therapeutic purposes. The treatment was supplemented by two rifampicine-isoniazide-pyrazinamide/four rifampicine-isoniazide antibacillary chemotherapy. The course of disease was marked by lymph node recurrence and failure of medical treatment in 54 patients. DISCUSSION: In the absence of, or in waiting for, bacteriologic confirmation, the surgery keeps a place impossible to circumvent, either as a diagnostic or therapeutic operation, in first-line treatment in the presence of a cold abscess, an inexhaustible fistula, lymphadenitis with atypical mycobacteria, and a large and calcified lymph-node mass for which medical treatment will not be sufficient, or in secondary surgery in the event of failure or progress under medical treatment or in case of residual adenopathy at the end of an appropriate medical treatment. CONCLUSION: Surgery still has an important place in the management of tuberculosis of lymph nodes.


Subject(s)
Tuberculosis, Lymph Node/pathology , Tuberculosis, Lymph Node/surgery , Adult , Anti-Bacterial Agents/therapeutic use , Antitubercular Agents/therapeutic use , Combined Modality Therapy , Diagnosis, Differential , Drug Combinations , Female , Humans , Isoniazid/therapeutic use , Male , Neck , Pyrazinamide/therapeutic use , Retrospective Studies , Rifampin/therapeutic use , Tuberculosis, Lymph Node/drug therapy
3.
Int J Pediatr Otorhinolaryngol ; 71(8): 1239-45, 2007 Aug.
Article in English | MEDLINE | ID: mdl-17553572

ABSTRACT

OBJECTIVE: Mutations in the connexin 26 gene (GJB2), which encodes a gap-junction protein expressed in the inner ear, have been shown to be responsible for a major part of autosomal recessive non-syndromic hearing loss in Caucasians. The aim of our study was to determine the prevalence and spectrum of GJB2 mutations, including the (GJB6-D13S1830) deletion, in Moroccan patients and estimate the carrier frequency of the 35delG mutation in the general population. METHODS: Genomic DNA was isolated from 81 unrelated Moroccan familial cases with moderate to profound autosomal recessive non-syndromic hearing loss and 113 Moroccan control individuals. Molecular studies were performed using PCR-Mediated Site Directed Mutagenesis assay, PCR and direct sequencing to screen for GJB2, 35delG and del(GJB6-D13S1830) mutations. RESULTS: GJB2 mutations were found in 43.20% of the deaf patients. Among these patients 35.80% were 35delG/35delG homozygous, 2.47% were 35delG/wt heterozygous, 3.70% were V37I/wt heterozygous, and 1 patient was E47X/35delG compound heterozygous. None of the patients with one or no GJB2 mutation displayed the common (GJB6-D13S1830) deletion. We found also that the carrier frequency of GJB2-35delG in the normal Moroccan population is 2.65%. CONCLUSIONS: These findings indicate that the GJB2-35delG mutation is the major cause of autosomal recessive non-syndromic hearing loss in Moroccan population. Two other mutations were also detected (V37I and E47X), in agreement with similar studies in other populations showing heterogeneity in the frequencies and types of mutation in connexin 26 gene.


Subject(s)
Connexins/genetics , Genes, Recessive/genetics , Hearing Loss/ethnology , Hearing Loss/genetics , Point Mutation/genetics , Chromosome Mapping , Connexin 26 , DNA Mutational Analysis , Gene Deletion , Genetic Carrier Screening/methods , Genotype , Heterozygote , Humans , Morocco , Pedigree , Polymerase Chain Reaction
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