Childhood Hearing Impairment in Senegal.

We recently showed that variants in GJB2 explained Hearing Impairment (HI) in 34.1% (n = 15/44) of multiplex families in Senegal. The present study aimed to use community-based nationwide recruitment to determine the etiologies and the clinical profiles of childhood HI in Senegal. Participants with early onset HI were included after clinical examination, including audiological assessment by pure tone audiometry and/or auditory brainstem response. We investigated a total of 406 participants from 295 families, recruited from 13/14 administrative regions of Senegal. Male/female ratio was 1.33 (232/174). Prelingual HI was the most common type of HI and accounted for 80% (n = 325 individuals). The mean age at medical diagnosis for congenital HI was computed at 3.59 ± 2.27 years. Audiological evaluation showed sensorineural HI as the most frequently observed HI (89.16%; n = 362 individuals). Pedigree analysis suggested autosomal recessive inheritance in 61.2% (63/103) of multiplex families and sporadic cases in 27 families (26.2%; 27/103), with a consanguinity rate estimated at 93% (84/90 families). Genetic factors were likely involved in 52.7% (214/406) of the cases, followed by environmental causes (29.57%; 120/406). In 72 cases (17.73%), the etiology was unknown. Clinically, non-syndromic HI was the most common type of HI (90.6%; n = 194/214 individuals). Among families segregating syndromic cases, type 2 Waardenburg syndrome was the most common (36.3%; 4/11 families). This study revealed putative genetic factors, mostly associated with high consanguinity rate, as the leading causes of early-onset HI in Senegal. The high consanguinity could provide a good opportunity to identify variants in known and novel genes involved in childhood HI.

GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal.

This study aimed to investigate GJB2 (MIM: 121011) and GJB6 (MIM: 604418) variants associated with familial non-syndromic hearing impairment (HI) in Senegal. We investigated a total of 129 affected and 143 unaffected individuals from 44 multiplex families by segregating autosomal recessive non-syndromic HI, 9 sporadic HI cases of putative genetic origin, and 148 control individuals without personal or family history of HI. The DNA samples were screened for GJB2 coding-region variants and GJB6-D3S1830 deletions. The mean age at the medical diagnosis of the affected individuals was 2.93 ± 2.53 years [range: 1−15 years]. Consanguinity was present in 40 out of 53 families (75.47%). Variants in GJB2 explained HI in 34.1% (n = 15/44) of multiplex families. A bi-allelic pathogenic variant, GJB2: c.94C>T: p.(Arg32Cys) accounted for 25% (n = 11/44 families) of familial cases, of which 80% (n = 12/15) were consanguineous. Interestingly, the previously reported "Ghanaian" founder variant, GJB2: c.427C>T: p.(Arg143Trp), accounted for 4.5% (n = 2/44 families) of the families investigated. Among the normal controls, the allele frequency of GJB2: c.94C>T and GJB2: c.427C>T was estimated at 1% (2/148 ∗ 2) and 2% (4/148 ∗ 2), respectively. No GJB6-D3S1830 deletion was identified in any of the HI patients. This is the first report of a genetic investigation of HI in Senegal, and suggests that GJB2: c.94C>T: p.(Arg32Cys) and GJB2: c.427C>T: p.(Arg143Trp) should be tested in clinical practice for congenital HI in Senegal.

Gingival metastasis of a breast carcinoma.

We report a case of metastasis to the gingiva of breast carcinoma. The breast tumor was treated with neoadjuvant chemotherapy followed by a radical mastectomy associated with axillary dissection. The gingival lesion occurred 7 months after surgery; the metastasis was confirmed by a biopsy.

Relationships between the obstructive character of the tonsils and the type of ventilation and lip posture.

INTRODUCTION: The role of obstructive tonsils in ventilatory disorders and abnormal lip posture is widely discussed in the literature but remains controversial. The data reported on the probable relationship between obstructive tonsils and an existing breathing disorder or lip incompetence were subjective. The purpose of this study was to evaluate the relationship between the obstructive character of the tonsils and the type of ventilation and lip posture. MATERIALS AND METHODS: This is a cross-sectional study performed in children aged from 6 to 12 years old. The subjects were divided into two groups (A and B) according to the obstructive or non-obstructive character of the palatal tonsils. Type of ventilation and lip posture at rest were recorded for each child. The collected data were analysed using the SPSS 20.0 software (for Windows). A Student's t-test and a Chi2 test were respectively used to compare quantitative and qualitative variables according to the obstructive character of the tonsils for each group. The level of significance is fixed at P=0.05. RESULTS: The subjects in group B with obstructive palatal tonsils were significantly more likely to oral breathing and lip incompetence than the subjects with non-obstructive tonsils (group A). CONCLUSION: The clinical examination of children with ventilatory and postural disorders with lip incompetence must be directed towards the search for associated obstructive palatal tonsils in order to plan an early etiological treatment. This would allow to avoid subsequent problems in the dentofacial structures.

Ear, nose and thorat disorders in pediatric patients at a rural hospital in Senegal.

INTRODUCTION: The main health problems encountered in pediatric population in Senegal are low birth weigth malnutrition and infection. However, there is a lack of data on pediatric ENT diseases from west african population. This is no published data on any research work on pattern ENT pediatric done in Senegal. This study aimed at determining the pattern of common pediatric ENT diseases. PATIENTS AND METHODS: This was a retrospective descriptive study involving review of medical record of patients aged 0-16 years who presented ENT diseases from April 2011 to May 2013 (2 years). RESULTS: within the study period a total of 1329 children were seen. We found 696 children male and 633 female, sex ratio (M/F) is 1.1. Mean age of patients seen was 06 years. Nasal disorders (54,6%) were found to be the commonest group of ENT, followed by ear disorders (22,8%) thorat (22,7%). Hypertrophic adenoid (27,9%) allergic rhinitis (22,9%) and pharyngitis (17,7%) are the most common ENT problems in our pediatric population. CONCLUSION: The main health problems encountered in pediatric population in Senegal are low birth weigth malnutrition and infection. This study indicated hypertrophic adenoid (27,9%) allergic rhinitis (22,9%) and pharyngitis (17,7%) are the most common ENT problems in our pediatric population. However, this study can provide basic data for heath plan and future local research work.