Review
Genetics & Heredity
Karina Lezirovitz, Regina Celia Mingroni-Netto
Summary: Genetic studies on non-syndromic hearing loss in Latin America have focused on assessing gene frequencies and have made unique contributions to the field. Despite some similarities with European and North American countries, populations in Latin America have exhibited distinct characteristics, highlighting the need for tailored screening and diagnosis strategies for specific geographic regions.
Article
Anatomy & Morphology
Jean Defourny, Marc Thiry
Summary: This review summarizes the recent progress in understanding the biogenesis and stability of gap junctions in the cochlea, focusing on the assembly mechanisms of connexin 26 and connexin 30 and the pathogenic significance of mutations related to hearing loss.
DEVELOPMENTAL DYNAMICS
(2023)
Article
Multidisciplinary Sciences
Nabila Kausar, Asma Haque, Muhammad Shareef Masoud, Nazia Nahid, Usman Ali Ashfaq, Ali Muhammad Waryah, Rashid Bhatti, Muhammad Qasim
Summary: The study investigated the prevalence of GJB2 variations in families with severe-to-profound hearing impairment in Southern Punjab of Pakistan, finding that GJB2-related hearing loss accounts for at least 20% of all cases in the region.
Article
Biochemistry & Molecular Biology
Olga Shatokhina, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana Ryzhkova, Elena Bliznetz
Summary: Hearing loss is a genetically heterogeneous disorder, and the genetic factors underlying non-GJB2-related hearing loss have been relatively understudied in Russia. This research aimed to understand the mutation spectrum in non-GJB2-related hearing loss in Russian patients and establish the best diagnostic algorithm. The study found that genetic mutations accounted for 21% of non-GJB2 NSHL cases, with STRC mutations being the most common in GJB2-negative patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biology
Yacouba Dia, Samuel Mawuli Adadey, Jean Pascal Demba Diop, Elvis Twumasi Aboagye, Seydi Abdoul Ba, Carmen De Kock, Cheikh Ahmed Tidjane Ly, Oluwafemi Gabriel Oluwale, Andrea Regina Gnilane Sene, Pierre Diaga Sarr, Bay Karim Diallo, Rokhaya Ndiaye Diallo, Ambroise Wonkam
Summary: This study investigated the association between GJB2 and GJB6 variants and familial non-syndromic hearing impairment (HI) in Senegal. The results showed that the GJB2: c.94C>T: p.(Arg32Cys) and GJB2: c.427C>T: p.(Arg143Trp) variants are pathogenic and should be tested in clinical practice for congenital HI in Senegal.
Article
Cell Biology
Hongyang Wang, Yun Gao, Jing Guan, Lan Lan, Ju Yang, Wenping Xiong, Cui Zhao, Linyi Xie, Lan Yu, Dayong Wang, Qiuju Wang
Summary: The study identified a Chinese autosomal recessive hearing loss family with GJB2 c.235delC homozygous mutation, showing post-lingual moderate to profound hearing loss, as well as three sporadic patients with post-lingual moderate hearing impairment. NGS revealed no other specific variants and confirmed the overexpression of Connexin30 in some cases.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Clinical Neurology
Alicia Wang, A. Eliot Shearer, Guang Wei Zhou, Margaret Kenna, Dennis Poe, Greg R. Licameli, Jacob R. Brodsky
Summary: Hearing loss is often accompanied by peripheral vestibular loss, which can impact motor development and quality of life in children. The extent of vestibular dysfunction in genetic pediatric hearing loss is not well-understood. Research in children with genetic hearing loss undergoing vestibular evaluation found that PVL is common and varies by affected gene.
FRONTIERS IN NEUROLOGY
(2021)
Article
Medical Laboratory Technology
Jianyan Pan, Shanshan Ma, Yanling Teng, Deshin Liang, Zhou Li, Lingqian Wu
Summary: This study clarified the genetic etiology in 113 families with hearing loss, identified new variant information, and broadened the mutation spectrum of hearing loss genes.
CLINICA CHIMICA ACTA
(2022)
Article
Multidisciplinary Sciences
Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian
Summary: This study demonstrated the effectiveness of WES as a molecular diagnostic method for NSHL patients negative for GJB2 gene mutations in the Iranian population, revealing several novel mutations.
Article
Audiology & Speech-Language Pathology
Yi-Feng Lin, Hung-Ching Lin, Chia-Ling Tsai, Yi-Chao Hsu
Summary: This study investigated the spectrum of GJB2 mutations in Taiwan and explored the genotype-phenotype correlations in patients with NSHL. The data revealed that GJB2 c.109G > A heterozygotes had poorer hearing compared to homozygotes, highlighting the complexity of GJB2 genetics. Further investigation is needed to understand the mechanism underlying the more severe phenotype in heterozygotes and whether it is caused by GJB2 heterozygotes or compound heterozygotes.
Review
Biochemistry & Molecular Biology
Mirko Alde, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jerome Rene Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci
Summary: Autosomal dominant non-syndromic hearing loss is typically caused by a single dominant allele within the disease gene. It most commonly affects individuals with a hearing-impaired parent, although de novo mutations can occur. Over 50 genes and 80 loci have been identified for this type of hearing loss. The characteristics range from bilateral, post-lingual onset, high-frequency progressive hearing loss to low-frequency fluctuating hearing loss. Long-term audiological follow-up is crucial for early detection and appropriate treatment with hearing aids or cochlear implants.
Article
Biochemistry & Molecular Biology
Aki Sakata, Akinori Kashio, Misaki Koyama, Shinji Urata, Hajime Koyama, Tatsuya Yamasoba
Summary: This study aimed to investigate whether the degree of hearing loss with GJB2 mutations can be predicted by distinguishing between truncating and non-truncating mutations, and identified specific genotypes associated with different levels of hearing loss. Regular follow-up is necessary for children with moderate or severe hearing loss at the time of the initial diagnosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Anca-Lelia Riza, Camelia Alkhzouz, Marius Farcas, Andrei Pirvu, Diana Miclea, Gheorghe Mihut, Razvan-Mihail Plesea, Delia Stefan, Mihaela Drodar, Calin Lazar, Mihai Ioana, Radu Popp
Summary: This study describes GJB2 gene variants and carrier frequencies in the Romanian population, and summarizes the genetic causes of autosomal recessive nonsyndromic hearing loss. The findings show that pathogenic variants in the GJB2 gene are frequent among hearing loss cases and have high carrier rates in northwestern Romania.
Article
Agronomy
Bojana Dobric, Danijela Radivojevic, Jovana Jecmenica, Pavlos Fanis, Vassos Neocleous, Leonidas Phylactou, Marina Djurisic
Summary: This study aims to analyze DFNB1 mutations in patients with autosomal recessive non-syndromic hearing loss (ARNSHL) from Serbia, and identified multiple variants. The results have important implications for genetic diagnosis, counseling, and treatment of deafness, as well as contribute to the knowledge of the geographic distribution of DFNB1 mutations.
Article
Health Care Sciences & Services
Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana Ryzhkova, Olga Shatokhina, Nailya Galeeva, Elena Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavartkiladze
Summary: Congenital and early onset bilateral sensorineural hearing loss (SNHL) is mainly caused by mutations in numerous genes. The presence of at least one GJB2 non-truncating variant leads to less severe hearing impairment, with flat and gently sloping audiogram profiles mostly revealed in all groups. Follow-up showed stability of hearing thresholds, with GJB2, STRC, and USH2A pathogenic variants being congenital in most cases.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Multidisciplinary Sciences
Mahtaab Hayat, Robyn Kerr, Amy R. Bentley, Charles N. Rotimi, Frederick J. Raal, Michele Ramsay
Review
Biochemistry & Molecular Biology
Ananyo Choudhury, Dhriti Sengupta, Michele Ramsay, Carina Schlebusch
Summary: Southern Africa is one of the earliest abodes of anatomically modern humans, with multiple major migrations reshaping the population and leading to a mix of distinct ancestries. Recent studies have refined our understanding of the timelines and routes of Bantu-speaking populations migrating to the region and mixing with local populations. Additionally, there is evidence of fine-scale population structure within certain Bantu-speaking groups in Southeastern Africa.
HUMAN MOLECULAR GENETICS
(2021)
Review
Genetics & Heredity
Luisa Pereira, Leon Mutesa, Paulina Tindana, Michele Ramsay
Summary: African populations have rich genetic diversity and a long evolutionary history, but recent exposures to new pathogens and lifestyle changes may lead to health risks from certain genetic variants. African genomic studies offer highly valuable insights into the genomics and molecular basis of health and disease, but limited research on African populations globally hinders the applicability of precision medicine approaches.
NATURE REVIEWS GENETICS
(2021)
Article
Genetics & Heredity
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Susan Halloran Blanton, Michael Sean Pepper, Xue Zhong Liu
Summary: Mutations in the MYO7A gene can cause a phenotypic spectrum ranging from DFNB2 hearing loss to USH1B deaf-blindness, with novel mutations identified in a South African population suggesting DFNB2 as a specific entity that may occur in a homozygous or compound heterozygous state.
Article
Pharmacology & Pharmacy
Jenny Mary Mathew, Phelelani Thokozani Mpangase, Dhriti Sengupta, Stanford Kwenda, Demetra Mavri-Damelin, Michele Ramsay
Summary: The study identified a novel cis-eQTL, rs28967009, for UGT1A1 which may affect the metabolism of dolutegravir and irinotecan, commonly prescribed for HIV and colorectal cancer in South Africa. Patients with the rs28967009A variant may require personalized treatment to achieve therapeutic levels.
Article
Genetics & Heredity
Jorge E. B. da Rocha, Houcemeddine Othman, Caroline T. Tiemessen, Gerrit Botha, Michele Ramsay, Collen Masimirembwa, Clement Adebamowo, Ananyo Choudhury, Jean-Tristan Brandenburg, Mogomotsi Matshaba, Gustave Simo, Francisco-Javier Gamo, Scott Hazelhurst
Summary: Variants in the G6PD gene among individuals from sub-Saharan Africa show significant diversity, potentially impacting the efficacy of chloroquine/hydroxychloroquine in COVID-19 treatment. Allele frequency differences in G6PD deficiency-related variants exist among different African sub-populations, which may affect drug efficacy and side effects.
PHARMACOGENOMICS JOURNAL
(2021)
Article
Urology & Nephrology
Jean-Tristan Brandenburg, Melanie A. Govender, Cheryl A. Winkler, Palwende Romuald Boua, Godfred Agongo, June Fabian, Michele Ramsay
Summary: This study investigated the prevalence of APOL1 risk alleles and their association with kidney disease in different regions of Africa. The results showed that APOL1 risk variants were significantly associated with albuminuria but not eGFR decline. The frequencies of high-risk genotypes differed between different regions of Africa.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Evans M. Mathebula, Dhriti Sengupta, Nimmisha Govind, Vincent A. Laufer, S. Louis Bridges, Mohammed Tikly, Michele Ramsay, Ananyo Choudhury
Summary: The study conducted a genome-wide association analysis on South-Eastern Bantu-speaking South Africans with seropositive RA. The results identified significant associations in the HLA region and suggestive associations in other genomic regions. In addition, the study provided evidence for replication of non-HLA signals for RA in sub-Saharan African populations.
HUMAN MOLECULAR GENETICS
(2022)
Article
Pharmacology & Pharmacy
David Twesigomwe, Britt Drogemoller, Galen E. B. Wright, Clement Adebamowo, Godfred Agongo, Palwende R. Boua, Mogomotsi Matshaba, Maria Paximadis, Michele Ramsay, Gustave Simo, Martin C. Simuunza, Caroline T. Tiemessen, Zane Lombard, Scott Hazelhurst
Summary: This study investigates the distribution of CYP2D6 star alleles and predicted drug metabolizer phenotypes in multiple sub-Saharan African populations. The results show varying frequencies of known alleles and phenotypes across different African ethnolinguistic groups, and identify 27 novel star alleles. This research highlights the importance of studying key pharmacogenes in the African context to better understand population-specific allele frequencies.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Genetics & Heredity
Rosemary Ida Kabahuma, Wolf-Dieter Schubert, Christiaan Labuschagne, Denise Yan, Michael Sean Pepper, Xue-Zhong Liu
Summary: DFNB28, a recessively inherited nonsyndromic form of deafness, is caused by mutations in the TRIOBP gene. The study found that truncating variants affecting repeat motifs R1 and R2 or R2 alone lead to a deafness phenotype, while a truncating variant affecting R1 and R2 or R2 alone combined with a missense variant does not. Homozygous truncating variants affecting repeat motif R2 cosegregate with the deafness phenotype.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Health Care Sciences & Services
Michelle Kamp, Oliver Pain, Andrew May, Cathryn M. Lewis, Michele Ramsay
Summary: Cardiovascular diseases are a major cause of death and illness in South Africa. Assessing genetic risk could improve disease stratification and inform precision medicine approaches. However, practicing clinicians in South Africa have limited genetic knowledge and resources, which hinder the adoption of precision medicine-based risk stratification.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Public, Environmental & Occupational Health
Monica Muti, Lisa J. Ware, Lisa K. Micklesfield, Michele Ramsay, Godfred Agongo, Palwende R. Boua, Isaac Kisiangani, Ian Cook, Francesc Xavier Gomez-Olive, Nigel J. Crowther, Chodziwadziwa Kabudula, Shane A. Norris, Tinashe Chikowore
Summary: This study explores the association between self-reported physical activity and body mass index (BMI) in African adults. Results show that meeting physical activity guidelines is associated with lower BMI in both men and women. There are also site-specific differences in the associations between physical activity domains and BMI. In conclusion, physical activity may be an effective strategy to address obesity in Africa, but more research is needed to assess the impact of interventions tailored to gender and geographic location.
JOURNAL OF PHYSICAL ACTIVITY & HEALTH
(2023)
Article
Biology
Cassandra C. Soo, Jean-Tristan Brandenburg, Almut Nebel, Stephen Tollman, Lisa Berkman, Michele Ramsay, Ananyo Choudhury
Summary: Cognitive function is important for overall physical and mental health. This study used cognitive tests to assess 2,246 adults in a rural South African community and found a genetic variant associated with episodic memory. Despite the small population size, the study provides insights into cognitive pathways specific to Africans and paves the way for further genomic research on cognition in Africa.
COMMUNICATIONS BIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Nqoba Tsabedze, Michele Ramsay, Amanda Krause, Quinn Wells, Dineo Mpanya, Pravin Manga
Summary: This review discusses the prevalence of dilated cardiomyopathy (DCM) in sub-Saharan Africa and the current state of research on the genetic basis and genetic testing for DCM in this population.
HEART FAILURE REVIEWS
(2023)
Article
Pharmacology & Pharmacy
David Twesigomwe, Britt I. Droegemoeller, Galen E. B. Wright, Clement Adebamowo, Godfred Agongo, Palwende R. Boua, Mogomotsi Matshaba, Maria Paximadis, Michele Ramsay, Gustave Simo, Martin C. Simuunza, Caroline T. Tiemessen, Zane Lombard, Scott Hazelhurst
Summary: This study provides important findings on the distribution and predicted phenotypes of star alleles in CYP2B6 and CYP2A6 genes in African populations. It also identifies potential novel African-ancestry star alleles. These results are significant for guiding personalized medicine strategies and the design of pharmacogenetic testing platforms.
CLINICAL PHARMACOLOGY & THERAPEUTICS
(2023)
Article
Otorhinolaryngology
Adrian Williamson, Erica H. Mcardle, Hussein Jaffal
Summary: This study aims to describe the findings on drug-induced sleep endoscopy (DISE) in infants with laryngomalacia (LM). The results showed that DISE can identify obstruction at the level of the tongue base and complement the assessment of LM severity.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Tanya Chen, Melissa Lee, Evelyn Constantin, Joshua Gurberg, Lily HP. Nguyen
Summary: In the last two decades, there has been a high prevalence of funding and potential conflicts of interest in HSAT publications. Higher quality studies have increased in the last five years, but there still exists a lack of disclosure regarding funding or COI. There is a positive correlation between level of evidence and industry funding.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Stephen I. Pelton, Saskia Hullegie, Amanda J. Leach, Paola Marchisio, Tal Marom, Vishakha Sabharwal, Nader Shaikh, Paula A. Tahtinen, Roderick P. Venekamp
Summary: This study aims to identify and synthesize key research advances in the preventative measures and medical and surgical treatment of uncomplicated otitis media (OM), as well as the impact of the COVID-19 pandemic on OM management. The study found that there have been important advances in OM management in recent years, such as the effectiveness of video discharge instructions in reducing symptoms for parents of children with acute otitis media (AOM) and the efficacy of levofloxacin solution for treating chronic suppurative otitis media.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Thomas L. Haupt, Earl H. Harley
Summary: This study analyzed head and neck injuries caused by BB guns among children under 18 treated in US emergency departments between 1993 and 2019. It found that younger children are at increased risk of hospital admission, and injuries to the eye and neck are strong predictors of hospitalization.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Guy Faibish, Daniel Kaplan, Ariela Knaanie, Sabri Elsaeid, Oren Ziv
Summary: This study compared postoperative complication rates in pediatric cochlear implant candidates with and without otitis media with effusion (OME), and found that ventilation tube insertion for OME increased the rates of acute mastoiditis and chronic suppurative otitis media without cholesteatoma (CSOMWC).
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Andrew T. Gabrielson, Julie Wei
Summary: A survey conducted among members of the American Society of Pediatric Otolaryngology (ASPO) found that pediatric otolaryngologists commonly experience work-related musculoskeletal pain and lack knowledge about surgical ergonomics.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Review
Otorhinolaryngology
Alisha R. Pershad, Emily C. Knox, Rahul K. Shah, Habib G. Zalzal
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Keerthana Rajanbabu, Sakthilakshmi Gunasekaran, Heramba Ganapathy Selvarajan
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)
Article
Otorhinolaryngology
Austin D. Schafer, Megan Mcnutt, Amy Fulmer, Tran Bourgeois, Charles A. Elmaraghy
Summary: This study compared the risk of recurrent epistaxis in children treated with silver nitrate or electrocautery. The findings showed that patients treated with silver nitrate had significantly higher risk of recurrence compared to those treated with electrocautery.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
(2024)