The Performance of GeneXpert in the Diagnosis of Lymph Node Tuberculosis: A Prospective Study Comparing GeneXpert and Culture Findings.

Background and objective Lymph node tuberculosis (LNTB) is a common manifestation of extrapulmonary tuberculosis (EPTB). GeneXpert is a rapid diagnostic molecular test that simultaneously detects tuberculosis and rifampicin (RIF) resistance. In this study, we aimed to assess the epidemiology of LNTB and diagnostic performance parameters of the GeneXpert in routine ENT practice. Methods We conducted a cross-sectional prospective study from January to July 2019, in the Department of Otorhinolaryngology and Head Neck Surgery at the Hassan II University Hospital Center of Fez, Morocco. The samples were collected using lymph node biopsy and subjected to GeneXpert assay, culture, and histopathology. Diagnostic performance parameters of the GeneXpert were calculated and compared with culture. Results All patients with cervical adenopathy were included. Lymph node biopsies were performed for all patients. The performance of the GeneXpert was assessed according to culture findings. Among the 75 cases, the mean age was 21.6 ± 12.7 years with a female predominance (60%). GeneXpert was positive in 66.7% of specimens. The sensitivity and specificity of the GeneXpert assay were 78.6% and 40.4% respectively. GeneXpert accuracy was 54.6%. The positive predictive value (PPV) and negative predictive value (NPV) were found to be 44% (95% CI: 30.2-57.8) and 76% (95% CI: 59.3-92.7) respectively. Mycobacterium bovis was isolated in all samples, with no case of resistance to RIF found. Conclusions The performance of GeneXpert was found to be superior in terms of establishing the diagnosis of LNTB. It offers speedy and prompt results and clinicians should adopt it in routine clinical practice.

[Primary laryngeal lymphoma: a case report]. / Lymphome primitif laryngé: à propos d'un cas.

Primary laryngeal lymphoma is rare, accounting for less than 1% of all laryngeal cancers. Treatment depends on the stage and severity of the disease. We here report the exceptional case of a 64-year-old woman, non-smoker, suffering from dysphagia for solids and a foreign body sensation. Laryngoscopy and biopsies revealed polyploid tumor of the left epiglottic fold. The diagnosis of diffuse large B-cell lymphoma was made. The patient underwent chemotherapy followed by radiotherapy, with significant improvement at 2-year follow-up, with no local recurrence. Due to the rarity of this disease and the variety of symptoms, the optimal management strategy for this type of cancer is controversial, requiring a specific diagnostic and therapeutic approach.

[Cervical tuberculous lymphadenitis: the location of surgery]. / Tuberculose ganglionnaire cervicale: place de la chirurgie.

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.

GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2-35delG mutation.

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.