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2.
Presse Med ; 43(6 Pt 1): e135-9, 2014 Jun.
Article in French | MEDLINE | ID: mdl-24791653

ABSTRACT

OBJECTS: To discuss clinical presentation and therapeutic approaches of facial paralysis in acute otitis media. METHODS: We present five cases of facial palsy in children with acute otitis media managed in our ENT department during a period of 12 years (2001-2012). RESULTS: The mean age was 14.2 years; sex ratio was 0.66. All patients presented with a facial asymmetry, but only 3 of them had otalgia before the onset of facial asymmetry. The facial palsy delay was 3.3 days. The ear examination showed that the tympanic membrane was congestive in 4 patients, associated with a bulging in 2 patients, and a small perforation in one patient. Our patients presented grade III to IV initial facial palsy according to House and Brackmann staging. Computed tomography scan revealed a dehiscence of the bony facial canal in one patient. Antibiotic therapy associated with intravenous corticosteroids was administered in all patients. All patients underwent a facial kinesis therapy. A progressive improvement of facial palsy was observed in 4 patients and complete recovery of facial function in one case. DISCUSSION: Conservative treatment associating intravenous antibiotic and corticosteroids with or without myringotomy is the standard approach.


Subject(s)
Facial Paralysis/etiology , Otitis Media/complications , Acute Disease , Adolescent , Adrenal Cortex Hormones/administration & dosage , Adult , Anti-Bacterial Agents/administration & dosage , Child , Child, Preschool , Drug Therapy, Combination , Facial Nerve/pathology , Facial Paralysis/diagnosis , Facial Paralysis/drug therapy , Female , Follow-Up Studies , Humans , Infant , Infusions, Intravenous , Male , Middle Aged , Otitis Media/diagnosis , Otitis Media/drug therapy , Otoscopy , Retrospective Studies , Tomography, X-Ray Computed , Young Adult
6.
Int J Pediatr Otorhinolaryngol ; 77(9): 1481-4, 2013 Sep.
Article in English | MEDLINE | ID: mdl-23856378

ABSTRACT

OBJECTIVES: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. METHODS: We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. RESULTS: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G > A) and p.R143Q (c.428G > A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. CONCLUSIONS: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient.


Subject(s)
Cochlear Implantation/methods , Connexins/genetics , Deafness/genetics , Deafness/surgery , Genetic Predisposition to Disease , Heterozygote , Audiometry , Child, Preschool , Cochlear Implants , Connexin 26 , Female , Follow-Up Studies , Genetic Carrier Screening/methods , Genetic Testing , Hearing Loss, Sensorineural/diagnosis , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sensorineural/surgery , Humans , Point Mutation , Polymerase Chain Reaction/methods , Treatment Outcome , Tunisia
7.
Ann Hum Biol ; 39(3): 190-4, 2012 May.
Article in English | MEDLINE | ID: mdl-22471616

ABSTRACT

BACKGROUND: Otosclerosis is a common form of hearing impairment among Western-Eurasian adults. The cause of otosclerosis remains unknown. Autoimmune reaction against the otic capsule has been suggested as a possible aetiologic factor in otosclerosis. AIM: The present study is the first report to evaluate the relationship between class I major histocompatibility complex (MHC) genes (HLA-A, HLA-B and HLA-Cw) and genetic susceptibility to otosclerosis in Tunisian patients. SUBJECTS AND METHODS: Fifty unrelated Tunisian patients exhibiting clinical otosclerosis were typed for HLA-A, HLA-B and HLA-Cw antigens and compared with 100 ethnically-matched healthy controls. RESULTS: Increased frequencies of HLA-A*03 (OR = 4.16, Pc < 0.043), HLA-B*35 (OR = 2.76, Pc < 0.043) and HLA-Cw*03 (OR = 4.57, Pc < 0.043) antigens were found in the patients with otosclerosis compared with healthy controls. Individuals with HLA-A*30 (OR=0.25, Pc < 0.043), HLA-B*51 (OR = 0.11, Pc < 0.043), HLA-Cw*16 (OR = 0.08, Pc < 0.043) and Cw*06 (OR=0.32, Pc < 0.043) antigens have a protective effect against otosclerosis. CONCLUSIONS: In conclusion, the data suggest that a variation in class I HLA antigens could be a genetic factor involved in susceptibility to otosclerosis in the Tunisian population.


Subject(s)
Genetic Predisposition to Disease , Histocompatibility Antigens Class I/genetics , Otosclerosis/genetics , Polymorphism, Genetic , Adolescent , Adult , Case-Control Studies , Ethnicity/genetics , Female , Gene Frequency/genetics , HLA-A Antigens/genetics , HLA-B Antigens/genetics , HLA-C Antigens/genetics , Humans , Male , Middle Aged , Otosclerosis/immunology , Tunisia/ethnology , Young Adult
9.
Tunis Med ; 90(1): 19-24, 2012 Jan.
Article in French | MEDLINE | ID: mdl-22311443

ABSTRACT

BACKGROUND: The cystic hygroma is a benign lymphatic malformation, a rare but potentially serious in its character and its evolutionary trend dissecans. The head and neck region constitutes the favorite seat (75%). If the diagnosis is usually easy, the therapeutic management remains controversial. AIM: To analyze clinical and paraclinical characteristics of cystic hygroma and to discuss the various therapeutic methods. METHODS: We report a retrospective study about 25 cases of head and neck cystic hygroma collected during a period of 11 years (1998- 2008) in the ENT department of the hospital The Rabta Tunis. RESULTS: The average age of our patients was 18 years and 5 months. All patients consulted for a neck mass. It was localized in the submandibular region in 7 cases, 3 cases in parotid region, jugulocarotid artery in 3 cases and affecting the posterior triangle in 12 cases. Cervical ultrasound was performed in 22 cases (88%) evoking the diagnosis of cystic hygroma in 16 cases (72%). CT was performed in 10 cases finding hypodense aspect in 8 cases. MRI was carried out in 9 cases. It showed the aspect hyperintense T2, hypointense T1 in 7 cases. Surgical excision was performed in 22 cases and sclerotherapy in 3 patients. During the evolution, a recurrence was observed for each treatment modality. CONCLUSION: Surgery is treatment of choice of cystic hygroma. Sclerotherapy may be indicated as an alternative to surgery in localized and diffuse macrocystic forms.


Subject(s)
Head and Neck Neoplasms/diagnosis , Lymphangioma, Cystic/diagnosis , Adolescent , Adult , Aged , Child , Child, Preschool , Diagnostic Imaging , Female , Head and Neck Neoplasms/therapy , Humans , Infant , Infant, Newborn , Lymphangioma, Cystic/therapy , Male , Middle Aged , Retrospective Studies , Sclerotherapy , Young Adult
10.
Tunis Med ; 89(11): 860-5, 2011 Nov.
Article in French | MEDLINE | ID: mdl-22179923

ABSTRACT

BACKGROUND: The plunging goiter consists in a goiter whose lower limit is not palpable in surgical position. AIM: To study the epidemiologic characteristics, the circumstances of discovery, the clinical signs, and the management of this disease. METHODS: A retrospective study about 43 cases of plunging goiters operated during a period of 14 years in the ENT department of the hospital The Rabta Tunis. RESULTS: The average age of our patients was 59.3 years. On physical examination, goiter was palpable in 41 patients (95.3%). The plunging character of the goiter was noted, at echography, in 26 patients. A cervico-thoracic scanner was performed in 41 patients (95.3%). It helped to confirm the plunging goiter in all patients. These goiters were most frequently pre vascular (73.2%) compared to the innomined venous trunk. The lower limits of the intrathoracic extensions were on the level of the superior vena cava in 4 cases (9.7%), on the level of the left brachio-cephalic venous trunk in 16 cases (39%) and on the level of the aortic arch in 15 cases (36,5%). The cervical incision was sufficient in 39 cases (97.5%) and we used a combined sternotomy in one patient (2.5%). CONCLUSION: The plunging goiter is a thyroid tumour cervical originally descended, then developed, in the mediastinum. A good clinical examination and paraclinical can reach a definite diagnosis and to achieve better surgical.


Subject(s)
Goiter, Substernal/epidemiology , Goiter, Substernal/surgery , Adult , Aged , Aged, 80 and over , Diagnosis, Differential , Female , Goiter/diagnosis , Goiter/epidemiology , Goiter/surgery , Goiter, Substernal/complications , Goiter, Substernal/diagnosis , Humans , Hyperthyroidism/diagnosis , Hyperthyroidism/epidemiology , Hyperthyroidism/etiology , Hyperthyroidism/surgery , Male , Middle Aged , Prevalence , Radiography, Thoracic , Retrospective Studies , Sex Characteristics , Thyroid Function Tests/statistics & numerical data , Thyroidectomy
13.
Tunis Med ; 89(6): 534-8, 2011 Jun.
Article in French | MEDLINE | ID: mdl-21681715

ABSTRACT

BACKGROUND: Intracranial complications of sinusitis are always a subject of actuality. They present diagnostic and therapeutic problems. AIM: To study the clinical characteristics and treatment modalities for intracranial complications of sinusitis while insisting on their severity. METHODS: Retrospective study concerning 7 patients who had intracranial complications secondary to sinusitis. RESULTS: Our study was about 3 men and 4 women. The mean age of patients was 24 years. Neurologic signs were the most common symptoms. The diagnosis was confirmed by CT scan and lumbar puncture. The different complications were empyema in 5 cases and meningitis in 2 cases. Treatment included parenteral antibiotic therapy and surgery. The neurosurgical management has been achieved in 3 cases. Control was obtained in 4 cases, the mean receding was 18 months. CONCLUSION: Intracranial complications of sinusitis must be evoked, especially in cases of febrile headache or facial oedema. CT scan must be realized in slightest doubt. The treatment must be started precociously allowing a cure without after-effects.


Subject(s)
Brain Diseases/etiology , Empyema/etiology , Meningitis/etiology , Sinusitis/complications , Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Retrospective Studies , Young Adult
15.
Tunis Med ; 88(10): 690-5, 2010 Oct.
Article in French | MEDLINE | ID: mdl-20890812

ABSTRACT

BACKGROUND: Allergic rhinitis is a daily problem to which are confronted principally general practitioner, paediatrician, ear, nose and throat specialist and allergologist. also, this subject is still always alive because allergy seems in a constant progression in our society. AIM: To clarify diagnostic and therapeutic criteria of this affection. METHODS: we have realized a literature review concerning physiopathology, clinical symptoms, the position of paraclinical investigations and finally therapeutic modality of allergic rhinitis. RESULTS: Appropriated treatment of allergic rhinitis should be général it requires a knowledge and better comprehension of the disease and optimum prevention, if it is possible, of allergic symptoms.


Subject(s)
Rhinitis, Allergic, Perennial/therapy , Rhinitis, Allergic, Seasonal/therapy , Humans , Rhinitis, Allergic, Perennial/diagnosis , Rhinitis, Allergic, Perennial/physiopathology , Rhinitis, Allergic, Seasonal/diagnosis , Rhinitis, Allergic, Seasonal/physiopathology
16.
Tunis Med ; 88(2): 122-4, 2010 Feb.
Article in English | MEDLINE | ID: mdl-20415174

ABSTRACT

BACKGROUND: Chondrosarcomas are slow-growing malignant tumors that usually arise from cartilaginous structures. It may occur in the head and neck region with a predilection for the maxillofacial skeleton, where it has been reported to occur particularly in the mandible and maxilla. Chondrosarcoma of the sinonasal tract is very rare. AIM: Report a new case CASE: We present the case of a 43-year-old man presenting with an incidental finding of a chondrosarcoma of the maxillary and ethmoid sinus with nasal extension. The tumor was completely resected using a transnasal endoscopic approach. Treatment has followed by a radiation therapy and the patient was considered free of disease at her 5 years follow-up. CONCLUSION: Surgery is the mainstay treatment of chondrosarcomas. In selected patients, complete resection can be achieved using transnasal endoscopic approach.


Subject(s)
Chondrosarcoma/pathology , Nasal Cavity/pathology , Nose Neoplasms/pathology , Paranasal Sinus Neoplasms/pathology , Adult , Chondrosarcoma/therapy , Humans , Male , Nasal Cavity/surgery , Nose Neoplasms/therapy , Paranasal Sinus Neoplasms/therapy
18.
Hum Genet ; 123(3): 267-72, 2008 Apr.
Article in English | MEDLINE | ID: mdl-18224337

ABSTRACT

Otosclerosis is a common disorder of the otic capsule resulting in hearing impairment in 0.3-0.4% of the Caucasian population. The aetiology of the disease remains unclear. In most cases, otosclerosis can be considered as a complex disease. In some cases, the disease is inherited as an autosomal dominant trait, sometimes with reduced penetrance. To date, seven autosomal dominant loci have been reported, but none of the disease-causing genes has been identified. In this study, we present the results of a genome-wide linkage analysis in a large Tunisian family segregating autosomal dominant otosclerosis. Linkage analysis localised the responsible gene to chromosome 9p13.1-9q21.11 with a maximal LOD score of 4.13, and this locus was named OTSC8. Using newly generated short tandem repeat polymorphism markers, we mapped this new otosclerosis locus to a 34.16 Mb interval between the markers D9S970 and D9S1799. This region comprises the pericentromeric region on both arms of chromosome 9, a highly complex region containing many duplicated sequences.


Subject(s)
Centromere/genetics , Chromosomes, Human, Pair 9/genetics , Genetic Linkage/genetics , Otosclerosis/genetics , Adolescent , Adult , Aged , Chromosome Mapping , Female , Genes, Dominant , Genetic Markers , Genotype , Haplotypes , Humans , Lod Score , Male , Middle Aged , Otosclerosis/epidemiology , Pedigree , Polymorphism, Genetic , Tandem Repeat Sequences
20.
Am J Med Genet A ; 143A(14): 1653-60, 2007 Jul 15.
Article in English | MEDLINE | ID: mdl-17568407

ABSTRACT

Otosclerosis is caused by an abnormal bone homeostasis of the otic capsule resulting in a conductive hearing loss when the free motion of the stapes is compromised. An additional sensorineural hearing loss arises in some patients, most likely due to otosclerotic foci that invade the cochlear endosteum. Otosclerosis is a very common hearing impairment among Caucasians with a prevalence of about 0.3-0.4% among white adults. In the majority of cases, otosclerosis can be considered as a complex disease, caused by both genetic as environmental factors, but autosomal dominant forms of otosclerosis exist. However, families large enough for genetic analysis are very rare and often show reduced penetrance. To date five loci have been reported, but none of the genes have been cloned yet. In this study, we analyzed two new autosomal dominant otosclerosis families from Tunisia, and genotyped them with microsatellite markers for the known loci, the collagen genes COL1A1 and COL1A2, and NOG gene. In the family LK, linkage to all known loci was excluded. However, the family LS shows suggestive linkage to the OTSC3 region on chromosome 6p21.3-p22.3. This result points out that, besides the five reported loci, there must be at least one additional locus for autosomal dominant otosclerosis.


Subject(s)
Genetic Predisposition to Disease/genetics , Otosclerosis/genetics , Otosclerosis/pathology , Adolescent , Adult , Aged , Carrier Proteins/genetics , Chromosome Mapping , Chromosomes, Human, Pair 6/genetics , Collagen/genetics , Collagen Type I/genetics , Collagen Type I, alpha 1 Chain , DNA Mutational Analysis , Family Health , Female , Genotype , Humans , Lod Score , Male , Microsatellite Repeats , Middle Aged , Pedigree , Tunisia
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