Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2 （gap-junction protein β ...2）and GJB6 （gap-junction protein 13 6） are highly prevalent in Caucasian, Asian, and Middle Eastern pop-ulations, they are rare in both native African populations and those of African descent. The objective ofthis paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss inAfrican populations with a focus on native sub-Saharan African populations. Environmental etiologiesrelated to poor access to healthcare and perinatal care account for the majority of cases. Syndromicetiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing lossin these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarelyimplicated in populations of African descent. Recent use of next-generation sequencing （NGS） hasidentified several candidate deafness genes in African populations from Nigeria and South Africa that areunique when compared to common causative mutations worldwide. Researchers also recently describeda dominant mutation in MYO3a in an African American family with non-syndromic hearing loss. The useof NGS and specialized panels will aid in identifying rare and novel mutations in a more cost- and time-effective manner. The identification of common hearing loss mutations in indigenous African populationswill pave the way for translation into genetic deafness research in populations of African descentworldwide.
Abstract Objective Two cases of laryngeal lipomatous tumors are presented. Their diagnoses and management are discussed and contrasted. Methods Case report and literature review. Results Patient 1 is ...a 58 year old male presenting with five years of progressive shortness of breath, dysphagia, and globus sensation. Clinical exam and imaging study showed a 3.5 cm hypodense laryngeal mass, and he underwent transoral robotic-assisted surgery for complete excision. Final pathology revealed a well-differentiated liposarcoma. Patient 2 is a 79 year old female presenting with one year of non-progressive hoarseness and globus sensation. Clinical examination and imaging study revealed a 1.8 cm hypodense laryngeal mass. Transoral endoscopic complete excision of the submucosal mass was performed. Final pathology revealed benign spindle-cell lipoma. Conclusion Liposarcoma and lipoma may present with similar symptomatology, clinical, and imaging findings. Pathology evaluation is of utmost importance for definitive diagnosis. Therefore, diagnosis and treatment of laryngeal lipomatous lesions are best accomplished with complete excision of the mass.
Hearing loss (HL) is the most common neurosensory disorder affecting humans. The screening, prevention and treatment of HL require a better understanding of the underlying molecular mechanisms. ...Genetic predisposition is one of the most common factors that leads to HL. Most HL studies include few Spanish, Hispanic and Latino participants, leaving a critical gap in our understanding about the prevalence, impact, unmet health care needs, and genetic factors associated with hearing impairment among Spanish, Hispanic and Latino populations. The few studies which have been performed show that the gene variants commonly associated with HL in non-Spanish and non-Hispanic populations are infrequently responsible for hearing impairment in Spanish as well as Hispanic and Latino populations (hereafter referred to as Hispanic). To design effective screening tools to detect HL in Spanish and Hispanic populations, studies must be conducted to determine the gene variants that are most commonly associated with hearing impairment in this racial/ethnic group. In this review article, we summarize gene variants and loci associated with HL in Spanish and Hispanic populations. Identifying new genetic variants associated with HL in Spanish and Hispanic populations will pave the way to develop effective screening tools and therapeutic strategies for HL.
•Genetic predisposition is one of the most common factor that leads to hearing loss.•Summarize gene variants associated with hearing loss in Hispanic and Spanish populations.•Identifying new gene variants associated with deafness will help in developing effective screening tools.
Precision medicine in hearing loss Rudman, Jason R.; Mei, Christine; Bressler, Sara E. ...
Journal of genetics and genomics,
02/2018, Letnik:
45, Številka:
2
Journal Article
Recenzirano
Precision medicine (PM) proposes customized medical care based on a patient's unique genome, biomarkers, environment and behaviors. Hearing loss (HL) is the most common sensorineural disorder ...worldwide and is frequently caused by a single genetic mutation. With recent advances in PM tools such as genetic sequencing and data analysis, the field of HL is ideally positioned to adopt the strategies of PM. Here, we review current and future applications of PM in HL as they relate to the four core qualities of PM (P4): predictive, personalized, patient-centered, and participatory. We then introduce a strategy for effective incorporation of HL PM into the design of future research studies, electronic medical records, and clinical practice to improve diagnostics, prognostics, and, ultimately, individualized patient treatment. Finally, specific anticipated ethical and economic concerns in this growing era of genomics-based HL treatment are discussed. By integrating PM principles into translational HL research and clinical practice, hearing specialists are uniquely positioned to effectively treat the heterogeneous causes and manifestations of HL on an individualized basis.
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