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 optimize the wet paper roasting technology of Rheum palmatum. METHODS:Weighted comprehensive score composed of external properties of R. palmatum roasting with wet paper,the content of extract,total content of anthraquinone,free anthraquinones,conjugated anthraquinone and sennoside A+sennoside B,which were used as investigation indexes. L9(34)orthogonal test was adopted to investigate the three factors as the amount of paper,roasting time and roasting temperature,and optimized wet paper roasting technology of R. palmatum. Validation test was conducted. RESULTS:The optimal roasting technology was as follows as 100 g R. palmatum covered with 12 g paper,processing at 120 ℃,for 2 h. The results of validation test and pilot test showed the average comprehensive scores of roasted R. palmatum were 84.99(RSD<2.0%,n=3) and 85.06(RSD<2.5%,n=3),respectively. CONCLUSIONS:The optimal processing technology is simple and convenient with good reproducibility and operability.It lays a technical foundation for the standardized preparation of stewed R.palmatum.

Poly (propylene fumarate) is an unsaturated linear polyester, which degrades, in the presence of water, into propylene glycol and fumaric acid, and the degradation products can be cleared from the human body by normal metabolic processes. In this paper, different methods of the synthesis of PPF are listed, the crosslinking characteristics of polymerizing composite as well as the mechanical properties of cross-linked composite are discussed, and the potentialities of PPF composite used as particularly degradable polymeric cement for orthopedic application are reviewed.
Biocompatible Materials ; chemical synthesis ; Biodegradation, Environmental ; Cross-Linking Reagents ; chemical synthesis ; Fumarates ; chemical synthesis ; chemistry ; Humans ; Polypropylenes ; chemical synthesis ; chemistry