Objective:X-linked non-syndromic hearing loss is an extremely rare type of hearing impairment. This study conducted a phenotypic and genetic analysis of a family with X-linked dominant inheritance to explore the causes of hearing loss. Methods:Clinical data were collected from a patient with non-syndromic hearing loss who visited the Otorhinolaryngology Department of the First Affiliated Hospital of Zhengzhou University in June 2023. Phenotypic and genetic analyses were performed on family members, including audiometric tests, whole-exome sequencing, and PCR-Sanger sequencing verification. Audiological assessments comprised pure-tone audiometry, impedance audiometry, auditory brainstem response, and otoacoustic emission tests. Results:The affected individuals in this pedigree have X-linked dominant non-syndromic deafness caused by mutations in the SMPX gene. The proband, along with their mother and maternal grandmother, exhibit varying degrees of sensorineural hearing loss. Whole-exome sequencing revealed a novel pathogenic variant, NM_014332.3: c. 133-2A>C, in the SMPX gene in the proband. Sanger sequencing confirmed that the proband, proband's mother, and grandmother all carried this pathogenic variant. Conclusion:This study reports a novel pathogenic variant in the SMPX gene, providing additional medical evidence for the diagnosis and treatment of X-linked dominant inherited non-syndromic hearing loss. It enriches the mutation spectrum of the SMPX gene.
Humans ; Pedigree ; Mutation ; Phenotype ; Male ; Hearing Loss, Sensorineural/genetics* ; Exome Sequencing ; Female ; Adult ; Hearing Loss/genetics* ; Evoked Potentials, Auditory, Brain Stem ; Muscle Proteins

Clopidogrel is the cornerstone of antiplatelet therapy, but there are ethnic and individual differences in the suppression of platelets. Some patients regularly taking drugs still cannot prevent the recurrence of cardio- and cerebrovascular thrombosis, thereby manifest low drug reactivity, i.e., clopidogrel resistance. Genetic polymorphism is the main reason for individual difference. Genetic testing has been used for evaluating the efficacy of antiplatelet therapy, adjusting therapeutic plan, and predicting the risk of cardio- and cerebrovascular thromboembolic events by determining the genetic polymorphisms related with antiplatelet drugs. This article provides a review for the status quo and countermeasure of clopidogrel resistance predicted by gene testing.
Blood Platelets ; Clopidogrel ; Drug Resistance ; Genetic Testing ; Humans ; Platelet Aggregation Inhibitors ; Ticlopidine

Objective To compare the biomechanical stability of different fixation methods for unstable pelvic fractures, so as to provide references for clinical treatment. Methods An unstable pelvic fracture model (Tile C) with the sacroiliac joint dislocation at one side and the pubic rami fracture was constructed via three-dimensional finite element method. In the front of the pelvis, the fracture models were fixed with anterior pelvic Stoppa approach (ASA),subcutaneous anterior pelvic approach (APA), anterior pelvic ilioinguinal approach (AIA) and anterior pelvic external fixation (AEF),and the rear was fixed with sacroiliac joint screw (SIJS）and posterior tension-band plate (PTP). The Von Mises stress and strain distributions of fracture models fixed by different combinations of fixation approaches were analyzed under simulated standing conditions. Results After the models were applied with 500 N vertical load, the maximum stresses at the fracture sites were all reduced, which were smaller than 10 MPa in the front of the pelvis. The maximum stress at the anterior and posterior part of implants in sequence was ASA＜AIA＜AEF＜APA, and the average displacement under the same stress in sequence was ASA＜AIA＜AEF＜APA. Meanwhile, the maximum stresses at the sacroiliac joint and the posterior part of implants in PTP group were significant smaller than those in SIJS group, and the maximum total displacement and vertical displacement in PTP group were also smaller than those in SIJS group. Conclusions Unstable pelvic fractures could be significantly improved when the fracture was fixed by implants in eight combined methods. However, the overall biomechanical properties of the AIA groups were superior to those of the AEF groups and the APA groups. The stability of PTP groups in the treatment of posterior injury was better than that of SIJS groups.