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

Objective:To explore the early- to mid-term therapeutic efficacy of using porous-coated metaphyseal sleeves to reconstruct severe bone defects in revision total knee arthroplasty (rTKA).Methods:A retrospective analysis was conducted of the clinical data of the 39 patients (40 knees) who had undergone rTKA by porous-coated metaphyseal sleeve reconstruction at Department of Orthopaedics, West China Hospital, Sichuan University between May 2017 and September 2023. The cohort included 6 males (6 knees) and 33 females (34 knees), with an age of (67.0±9.7) years. The revision was to cure periprosthetic infection after TKA in 12 knees, to correct prosthesis loosening in 19 knees, to treat periprosthetic fracture in 4 knees, to stabilize postoperative joint instability in 4 knees, and to manage postoperative joint stiffness in 1 knee. All patients underwent standard revision procedures, including removal of the original prosthesis, management of bone defects, implantation of revision prosthesis, and adjustment of ligamentous balance and fixation. The patients' surgical time, intraoperative blood loss, incidence of complications, as well as visual analogue scale (VAS), knee range of motion, and Hospital for Special Surgery (HSS) knee joint scores at the last follow-up were recorded.Results:The surgical time was (2.7±0.8) hours, and intraoperative blood loss (337.5±165.4) mL for this cohort. All the 39 patients were followed up for (4.8±2.1) years after surgery. At the last follow-up, their VAS pain score was 2.0 (1.0, 2.0) points, their knee range of motion reached 116.3°±12.2°, and their total score, pain score, and function score of the HSS system were respectively 87.0 (82.8, 89.3) points, 25.0 (22.8, 29.0) points, and 61.0 (60.0, 62.0) points, all showing statistically significant improvements compared with their preoperative values [(6.8±1.7) points, 70.4°±15.2°, (43.1±9.6) points, (9.3±3.1) points, and (33.8±10.1) points] ( P<0.05). In all patients, incisions healed at one stage after surgery, and no complications such as deep vein thrombosis or neurovascular injury occurred. Complications included popliteal artery thrombosis in 1 patient (1 knee) immediately after surgery, acute infection in 1 patient (1 knee) at 3 years after surgery, and periprosthetic fracture due to a traffic accident in 1 patient (1 knee) at 4 years after surgery, and distal prosthesis-related pain in 3 patients (3 knees). Conclusion:Use of porous-coated metaphyseal sleeves in rTKA to reconstruct severe bone defects exhibits favorable early- to mid-term therapeutic outcomes.

Objective:To explore the early- to mid-term therapeutic efficacy of using porous-coated metaphyseal sleeves to reconstruct severe bone defects in revision total knee arthroplasty (rTKA).Methods:A retrospective analysis was conducted of the clinical data of the 39 patients (40 knees) who had undergone rTKA by porous-coated metaphyseal sleeve reconstruction at Department of Orthopaedics, West China Hospital, Sichuan University between May 2017 and September 2023. The cohort included 6 males (6 knees) and 33 females (34 knees), with an age of (67.0±9.7) years. The revision was to cure periprosthetic infection after TKA in 12 knees, to correct prosthesis loosening in 19 knees, to treat periprosthetic fracture in 4 knees, to stabilize postoperative joint instability in 4 knees, and to manage postoperative joint stiffness in 1 knee. All patients underwent standard revision procedures, including removal of the original prosthesis, management of bone defects, implantation of revision prosthesis, and adjustment of ligamentous balance and fixation. The patients' surgical time, intraoperative blood loss, incidence of complications, as well as visual analogue scale (VAS), knee range of motion, and Hospital for Special Surgery (HSS) knee joint scores at the last follow-up were recorded.Results:The surgical time was (2.7±0.8) hours, and intraoperative blood loss (337.5±165.4) mL for this cohort. All the 39 patients were followed up for (4.8±2.1) years after surgery. At the last follow-up, their VAS pain score was 2.0 (1.0, 2.0) points, their knee range of motion reached 116.3°±12.2°, and their total score, pain score, and function score of the HSS system were respectively 87.0 (82.8, 89.3) points, 25.0 (22.8, 29.0) points, and 61.0 (60.0, 62.0) points, all showing statistically significant improvements compared with their preoperative values [(6.8±1.7) points, 70.4°±15.2°, (43.1±9.6) points, (9.3±3.1) points, and (33.8±10.1) points] ( P<0.05). In all patients, incisions healed at one stage after surgery, and no complications such as deep vein thrombosis or neurovascular injury occurred. Complications included popliteal artery thrombosis in 1 patient (1 knee) immediately after surgery, acute infection in 1 patient (1 knee) at 3 years after surgery, and periprosthetic fracture due to a traffic accident in 1 patient (1 knee) at 4 years after surgery, and distal prosthesis-related pain in 3 patients (3 knees). Conclusion:Use of porous-coated metaphyseal sleeves in rTKA to reconstruct severe bone defects exhibits favorable early- to mid-term therapeutic outcomes.