Usher syndrome:Genetic diagnosis and current therapeutic approaches

Usher Syndrome(USH)is the most common deaf-blind syndrome,affecting approximately 1 in 6000 people in the deaf population.This genetic condition is characterized by a combination of hearing loss(HL),retinitis pigmentosa,and,in some cases,vestibular areflexia.Among the subtypes of USH,USH type 1 is considered the most severe form,presenting profound bilateral congenital deafness,vestibular areflexia,and early onset RP.USH type 2 is the most common form,exhibiting congenital moderate to severe HL for low frequencies and severe to profound HL for high frequencies.Conversely,type 3 is the rarest,initially manifesting mild symptoms during childhood that become more prominent in the first decades of life.The dual impact of USH on both visual and auditory senses significantly impairs patients'quality of life,restricting their daily activities and interactions with society.To date,9 genes have been confirmed so far for USH:MYO7A,USH1C,CDH23,PCDH15,USH1G,USH2A,ADGRV1,WHRN and CLRN1.These genes are inherited in an autosomal recessive manner and encode proteins expressed in the inner ear and retina,leading to functional loss.Although non-genetic methods can assist in patient triage and disease extension evaluation,genetic and molecular tests play a pivotal role in providing genetic counseling,enabling appropriate gene therapy,and facilitating timely cochlear implantation(CI).The CRISPR/Cas9 system and viral-based gene replacement therapy have recently emerged as highly promising techniques for treating USH.Regarding drug therapy,PTC-124 and Nb54 have been identified as promising drug interventions for genetic HL in USH.Simultaneously,CI has proven to be critical in the restoration of hearing.This review aims to summarize the genetic and molecular diagnosis of USH and highlight the importance of early diagnosis in Cuzzuol BR et al.Diagnosis and current treatments of USH WJO https://www.wjgnet.com 2 January 19,2024 Volume 11 Issue 1 guiding appropriate treatment strategies and improving patient prognosis.

Molecular and serology methods in the diagnosis of COVID-19: An overview

Coronavirus disease-19(COVID-19)has become a pandemic,being a global health concern since December 2019 when the first cases were reported.Severe acute respiratory syndrome coronavirus 2,the COVID-19 causal agent,is aβ-coronavirus that has on its surface the spike protein,which helps in its virulence and pathogenicity towards the host.Thus,effective and applicable diagnostic methods to this disease come as an important tool for the management of the patients.The use of the molecular technique PCR,which allows the detection of the viral RNA through nasopharyngeal swabs,is considered the gold standard test for the diagnosis of COVID-19.Moreover,serological methods,such as enzyme-linked immunosorbent assays and rapid tests,are able to detect severe acute respiratory syndrome coronavirus 2-specific immunoglobulin A,immunoglobulin M,and immunoglobulin G in positive patients,being important alternative techniques for the diagnostic establishment and epidemiological surveillance.On the other hand,reverse transcription loop-mediated isothermal amplification also proved to be a useful diagnostic method for the infection,mainly because it does not require a sophisticated laboratory apparatus and has similar specificity and sensitivity to PCR.Complementarily,imaging exams provide findings of typical pneumonia,such as the ground-glass opacity radiological pattern on chest computed tomography scanning,which along with laboratory tests assist in the diagnosis of COVID-19.