: Presbycusis, an age-related hearing impairment (ARHI) disease, is the most common cause for HI in adults worldwide. One of the best candidate genes for ARHI susceptibility is Cadherin 23 (
) which ...encodes stereocilia tip-links of the inner ear sensory hair cell. Although alterations in the methylation status of CpG dinucleotides across various genes were reported to be associated with HI, methylation changes in
gene have not been reported previously.
: This study aimed at investigating whether DNA methylation level of
gene at intragenic CpG island overlapping an exonic-intronic region at position chr10:73565570-73565827 (GRCh37/hg19) could be risk factor associated with ARHI.
: We screened for methylation changes in this particular position for
gene in 50 blood samples of elderly women affected with presbycusis and healthy control cohort. Methylation of CpG sites were assessed using Quantitative methylation-specific PCR (qMSP) following sodium bisulfite DNA conversion chemistry. Methylation levels were normalized against
reference gene.
: DNA methylation analysis for the common CpG islands in
gene revealed 3.27-folds significant increase (
< 0.0001) in methylation profile for ARHI women as compared to healthy controls with an elevated risk odds ratio (OR) of 2.219 95% CI 1.071-4.597.
: Our study is the first of its kind to prove that higher CpG site methylation levels in
gene are likely to be associated with ARHI.
Branchial cleft cyst: a case report Sellami, Moncef; Ghorbel, Abdelmonem
The Pan African medical journal,
2017, Letnik:
26, Številka:
102
Journal Article
Recenzirano
Odprti dostop
Differential diagnosis includes metastatic squamous cell carcinoma, lymphadenitis, lymphoma, cervical dermoid cyst, cystic hygroma and parotid pathology. Figure 1 A) clinical image showing a mass of ...the upper-left neck; B) axial T1-weighted MRI shows a well-defined hypointense mass that was confined to the left aspect of the neck (arrow); C) the mass (arrow) was hyper-intense on T2-weighted sequences (Axial T2-weighted MRI); D) peroperative view; E) the excised mass was an encapsulated cystic structure 1 Department of Otorhinolaryngology-Head and Neck Surgery Habib Bourguiba, University Hospital, Sfax, Tunisia 2 Sfax Medical School, University of Sfax, Sfax, Tunisia
Traumatic auricular hematoma Sellami, Moncef; Ghorbel, Abdelmonem
The Pan African medical journal,
2017, Letnik:
26, Številka:
148
Journal Article
Recenzirano
Odprti dostop
Hematoma formation is within the space between perichondrium and cartilage on the anterior ear. Because the blood supply to cartilage is dependent on the perichondrium, infection and cartilaginous ...necrosis often complicate untreated auricular hematomas. If auricular hematoma is not treated properly, it can progress to abscess formation, chronic scarring and fibrous organization with ear deformity “cauliflower” due to a stimulation of mesenchymal cells in the perichondrion to produce a new cartilage.
Les suites opératoires ont simples L'examen anatomopathologique a confirmé le diagnostic d'un kyste nasolabial. La tomodensitométrie du massif facial en coupe coronale et coupe axiale; (B) montre une ...formation kystique du vestibule narinaire de 50 X 35 mm donnant une large empreinte sur l’os maxillaire avoisinant 1 Service d’'ORL et de Chirurgie Cervico-faciale du CHU Habib Bourguiba, Sfax, Tunisie
Examination showed a 4 cm smooth, soft swelling of right supraclavicular fossa. ...there was no erythema or tenderness on palpation. Figure 1 A) right supraclavicular mass on examination (arrow); (B) ...CT scan of the neck, showing a well-defined supraclavicular cystic mass (arrow); (C) Intra-operatively the mass appeared fluid filled and lobulated; (D) Excision of the cystic mass 1 Department of Otorhinolaryngology-Head and Neck Surgery, Habib Bourguiba University Hospital, Sfax, Tunisia
Otosclerosis (OTSC) is among the most common causes of a late-onset hearing loss in adults and is characterized by an abnormal bone growth in the otic capsule. Alteration in the osteoprotegerin (OPG) ...expression has been suggested in the implication of OTSC pathogenesis.
A case-control association study of rs2228568, rs7844539, rs3102734 and rs2073618 single nucleotide polymorphisms (SNPs) in the OPG gene was performed in a Tunisian-North African population composed of 183 unrelated OTSC patients and 177 healthy subjects. In addition, a multilocus association and a meta-analysis of existing studies were conducted.
Rs3102734 (p = 0.013) and rs2073618 (p = 0.007) were significantly associated with OTSC, which were predominantly detected in females after multiple corrections. Among the OPG studied SNPs, the haplotypes A-A-C-G (p = 0.0001) and A-A-C-C (p = 0.0004) were significantly associated with OTSC in females. Multilocus association revealed that the SNPs: rs2073618 in OPG, rs1800472 in TGFβ1, rs39335, rs39350 and rs39374 in RELN, and rs494252 in chromosome 11 showed significant OTSC-associated alleles in Tunisian individuals. In addition, meta-analysis of the rs2073618 SNP in Tunisian, Indian and Italian populations revealed evidence of an association with OTSC (OR of 0.826, 95% CI 0.691-0.987, p = 0.035).
Our findings suggest that rs3102734 and rs2073618 variants are associated with OTSC in North African ethnic Tunisian population. Meta-analysis of the rs2073618 in three different ethnic population groups indicated an association with OTSC.
La tomodensitométrie du massif facial a montré une masse hypodense homogène bien limitée ne prenant pas le produit de contraste comblant tout le sinus maxillaire gauche associée à une lyse osseuse ...régulière de ses parois et un comblement éthmoïdo-nasal bilatéral. Figure 1 A) tuméfaction de l’hémi-palais osseux gauche; B) tomodensitométrie du massif facial en coupe axiale montre une masse hypodense du sinus maxillaire gauche avec lyse de la paroi postéro-latérale (flèche); C) tomodensitométrie du massif facial en coupe coronale montre un comblement éthmoido-nasal bilatéral (flèches) et la lésion sinus maxillaire qui érode le plancher du sinus (tête de flèche) 1 Service d’ORL et de Chirurgie Cervico-faciale du CHU Habib Bourguiba, Sfax, Tunisie
Image in medicine Antrochoanal polyps are benign lesions originating from the mucosa of the maxillary sinus and gradually prolapse through the medial wall of the maxillary sinus into the nasal cavity ...increasing in size to the choana and nasopharynx. Figure 1 (A) clinical examination showing a pale, spherical mass hanging in the oropharynx (arrow); (B) axial computed tomography showed the complete opacification of the right maxillary sinus (star) and a polypoid mass of the nasopharynx (arrow); (C) sagittal computed tomography showed a polypoid mass of the nasopharynx (arrow) 1 Department of Otorhinolaryngology-Head and Neck Surgery, Habib Bourguiba University Hospital, Sfax, Tunisia 2 Sfax Medical school, University of Sfax, Sfax, Tunisia
The high prevalence/incidence of hearing loss (HL) in humans makes it the most common sensory defect. The majority of the cases are of genetic origin. Non-syndromic hereditary HL is extremely ...heterogeneous. Genetic approaches have been instrumental in deciphering genes that are crucial for auditory function. In this study, we first used NADf chip to exclude the implication of known North-African mutations in HL in a large consanguineous Tunisian family (FT13) affected by autosomal recessive non-syndromic HL (ARNSHL). We then performed genome-wide linkage analysis and assigned the deafness gene locus to ch:5q23.2-31.1, corresponding to the DFNB60 ARNSHL locus. Moreover, we performed whole exome sequencing on FT13 patient DNA and uncovered amino acid substitution p.Cys113Tyr in SLC22A4, a transporter of organic cations, cosegregating with HL in FT13 and therefore the cause of ARNSHL DFNB60. We also screened a cohort of small Tunisian HL families and uncovered an additional deaf proband of consanguineous parents that is homozygous for p.Cys113Tyr carried by the same microsatellite marker haplotype as in FT13, indicating that this mutation is ancestral. Using immunofluorescence, we found that Slc22a4 is expressed in stria vascularis (SV) endothelial cells of rodent cochlea and targets their apical plasma membrane. We also found
Slc22a4
transcripts in our RNA-seq library from purified primary culture of mouse SV endothelial cells. Interestingly, p.Cys113Tyr mutation affects the trafficking of the transporter and severely alters ergothioneine uptake. We conclude that SLC22A4 is an organic cation transporter of the SV endothelium that is essential for hearing, and its mutation causes DFNB60 form of HL.
The fine-needle cytology is being used as a first line of investigation in the diagnosis of head and neck swellings, as it is simple, cost effective and less invasive as compared to biopsy.
The aims ...of this study were to evaluate the results of the fine-needle non-aspiration cytology of cervical lymphadenopathy and to study the factors influencing the rate of non-diagnosis results.
This retrospective study was conducted on selected patients with cervical lymphadenopathy that had undergone a fine-needle non-aspiration cytology followed by a histological biopsy. The sensitivity, specificity, positive predictive value and negative predictive value of fine-needle non-aspiration cytology for diagnosing tuberculosis were estimated. The risk factors of non-diagnosis results were evaluated.
The sensitivity, specificity, positive predictive value rates of fine-needle non-aspiration cytology for tuberculosis were 83.3%, 83.3%, 78.9% and 86.9% respectively. In total, 47 out of the 131 samples (35.8%) were considered non-diagnosis. Of the non-diagnosis samples, 84.2% (38 out of 47) were benign mostly due to tuberculosis (30 cases). Among the studied factors, only tuberculosis (confirmed by histopathological examination) was significantly associated with non-diagnosis cytology (p=0.02, Odds-Ratio=2.35).
Tuberculosis is currently the commonest cause of cervical lymphadenopathy in North Africa. Fine-needle non-aspiration cytology is safe and accurate in the diagnosis of cervical tuberculous lymph node that is associated with the risk of non-diagnosis cytology.
A punção não aspirativa com agulha fina tem sido utilizada como primeira linha de investigação no diagnóstico de tumores de cabeça e pescoço, por ser uma técnica simples, custo-efetiva e menos invasiva quando comparada à biópsia.
Os objetivos deste estudo foram avaliar os resultados de citologia por punção não-aspirativa com agulha fina de linfadenopatias cervicais e estudar os fatores que influenciam a taxa de falha diagnóstica.
Este estudo retrospectivo foi realizado em pacientes selecionados com linfadenopatia cervical submetidos a punção não aspirativa com agulha fina, seguida por biópsia histológica. Foram estimadas a sensibilidade, especificidade, o valor preditivo positivo e valor preditivo negativo da punção não aspirativa com agulha fina para o diagnóstico de tuberculose. Os fatores de risco dos resultados com falha diagnóstica foram avaliados.
As taxas de sensibilidade, especificidade, o valor preditivo positivo e valor preditivo negativo da punção não aspirativa com agulha fina para tuberculose foram de 83,3%, 83,3%, 78,9% e 86,9%, respectivamente. Das 131 amostras, 47 (35,8%) foram consideradas como falha diagnóstica. Das amostras não diagnosticadas, 84,2% (38 de 47) eram benignas, principalmente devido à tuberculose (30 casos). Entre os fatores estudados, apenas a tuberculose (confirmada pelo exame histopatológico) estava significativamente associada à citologia com falha diagnóstica (p=0,02, odds ratio=2,35).
A tuberculose é atualmente a causa mais comum de linfadenopatia cervical no norte da África. A punção não aspirativa com agulha fina é uma técnica segura e precisa no diagnóstico de linfonodos cervicais associados ao risco de citologia com falha diagnóstica.
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