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

ObjectiveTo explore the possible mechanisms of Wenyang Huazhuo Formula （温阳化浊方， WHF） in improving reproductive aging from the perspective of the ovarian mechanical microenvironment. MethodsThe experiment included five groups， 3-month group （20 female mice at 3 months of age）， 6-month group （20 female mice at 6 months of age）， 6-month + WHF group （20 female mice at 5 months of age treated with WHF）， 9-month group （20 female mice at 9 months of age）， and 9-month + WHF group （20 female mice at 8 months of age treated with WHF）. The 6-month + WHF group and 9-month + WHF group were orally administered WHF 41.2 g/（kg·d） once daily for 4 consecutive weeks. The other three groups received no intervention. Reproductive hormone levels were measured by ELISA. HE staining was used to count the numbers of various stages of follicles. Ovarian hyaluronic acid （HA） content and collagen fiber content were measured to evaluate the ovarian mechanical microenvironment. Superovulation was performed to observe the number of eggs obtained， as well as the number of offspring and birth weight to assess fertility. The in vitro fertilization and blastocyst culture of oocytes from female offspring in each group were observed to evaluate the effect of WHF on offspring reproductive potential. ResultsCompared with the 3-month group， the 6-month group and 9-month group showed significantly decreased serum levels of gonadotropin-releasing hormone （GnRH）， follicle-stimulating hormone （FSH）， and luteinizing hormone （LH）， decreased ovarian collagen content， and reduced numbers of primordial and secondary follicles. In contrast， the numbers of primary follicles， antral follicles， and atretic follicles increased. The levels of anti-Müllerian hormone （AMH）， ovarian HA content， and the fertilization rate， cleavage rate， and blastocyst formation rate of oocytes from offspring were significantly lower （P＜0.05）. Compared with the 6-month group， the 6-month + WHF group showed significantly reduced serum levels of GnRH， FSH， and LH， with a significant decrease in primary follicles， antral follicles， and atretic follicles as well as increase of AMH levels， ovarian HA content， number of primordial and secondary follicle， egg count， and offspring birth weight （P＜0.05）. Compared with the 9-month group， the 9-month + WHF group exhibited reduced GnRH， FSH， and collagen fiber content， as well as reduced number of primary follicles， antral follicles， and atretic follicles. However， AMH levels， ovarian HA content， number of primordial and secondary follicle， egg count， offspring numbers， birth weight， fertilization rate， cleavage rate， and blastocyst formation rate of oocytes from offspring all significantly increased （P＜0.05）. ConclusionWHF can significantly improve the ovarian reserve， fertility， and reproductive potential in offspring during reproductive mid-life and late-life stages. Its effect may be related to the remodeling of the mechanical microenvironment of aging ovaries. Moreover， the effect on the mechanical microenvironment remodeling of late-stage ovaries and the improvement of the offspring reproductive potential is more significant.

Decreased endometrial receptivity is a critical factor contributing to the decline in fertility among women of advanced age. With the increase of age, the endometrium exhibits diminished hormonal responsiveness, a phenomenon known as inflammaging, and an imbalance in immune cell populations. These changes impede the processes of endometrial epithelial-mesenchymal transition and decidualization, thereby negatively impacting embryo implantation and reducing overall fertility potential. Furthermore, adverse lifestyle choices, exposure to environmental factors, inflammatory conditions, and repeated interventions within the uterine cavity can result in pathological aging of the endometrium that does not align with its chronological age. This misalignment may be associated with the emergence of various reproductive disorders, even in younger women. This paper seeks to investigate the relationship between pathological aging of the endometrium and reproductive disorders, particularly in the context of embryo implantation, with the aim of providing new insights into the pathogenesis, clinical diagnosis, and treatment of reproductive disorders.

Objective:To identify the risk factors for postoperative adverse ischemic events (IEs) in high-altitude patients requiring intraoperative erythrocyte transfusion.Methods:This was a case-control study. Patient perioperative data and blood transfusion information were obtained through the electronic medical record system, biobank and case follow-up database. Patients with a long history of living at high altitudes who underwent elective tracheal intubation with general anesthesia and received red blood cell transfusion during surgery were selected, and their general characteristics and intraoperative data were collected. Based on the occurrence of ischemic events during postoperative hospitalization, patients were divided into IE group and non-IE group, and the risk factors for IE were identified by multivariate logistic regression analysis (stepwise regression).Results:There were 95 patients in IE group and 232 patients in non-IE group. The results of multivariate logistic regression analysis showed that age ≥65 yr, American Society of Anesthesiologists Physical Status classification Ⅲ, extremely high altitude (≥4 500 m), history of cerebral infarction, high altitude polycythemia, low hemoglobin concentration before blood transfusion, large difference in intraoperative Hb concentrations, massive blood loss and long duration of anesthesia were the risk factors for postoperative IEs in high-altitude patients requiring intraoperative erythrocyte transfusion ( P<0.05). Conclusions:Age≥65 yr, American Society of Anesthesiologists Physical Status classification Ⅲ, extremely high altitude, history of cerebral infarction, high altitude polycythemia, low hemoglobin concentration before blood transfusion, large difference in intraoperative Hb concentrations, massive blood loss and long duration of anesthesia are the risk factors for postoperative IEs in high-altitude patients requiring intraoperative erythrocyte transfusion.

Decreased endometrial receptivity is a critical factor contributing to the decline in fertility among women of advanced age. With the increase of age, the endometrium exhibits diminished hormonal responsiveness, a phenomenon known as inflammaging, and an imbalance in immune cell populations. These changes impede the processes of endometrial epithelial-mesenchymal transition and decidualization, thereby negatively impacting embryo implantation and reducing overall fertility potential. Furthermore, adverse lifestyle choices, exposure to environmental factors, inflammatory conditions, and repeated interventions within the uterine cavity can result in pathological aging of the endometrium that does not align with its chronological age. This misalignment may be associated with the emergence of various reproductive disorders, even in younger women. This paper seeks to investigate the relationship between pathological aging of the endometrium and reproductive disorders, particularly in the context of embryo implantation, with the aim of providing new insights into the pathogenesis, clinical diagnosis, and treatment of reproductive disorders.

Objective:To identify the risk factors for postoperative adverse ischemic events (IEs) in high-altitude patients requiring intraoperative erythrocyte transfusion.Methods:This was a case-control study. Patient perioperative data and blood transfusion information were obtained through the electronic medical record system, biobank and case follow-up database. Patients with a long history of living at high altitudes who underwent elective tracheal intubation with general anesthesia and received red blood cell transfusion during surgery were selected, and their general characteristics and intraoperative data were collected. Based on the occurrence of ischemic events during postoperative hospitalization, patients were divided into IE group and non-IE group, and the risk factors for IE were identified by multivariate logistic regression analysis (stepwise regression).Results:There were 95 patients in IE group and 232 patients in non-IE group. The results of multivariate logistic regression analysis showed that age ≥65 yr, American Society of Anesthesiologists Physical Status classification Ⅲ, extremely high altitude (≥4 500 m), history of cerebral infarction, high altitude polycythemia, low hemoglobin concentration before blood transfusion, large difference in intraoperative Hb concentrations, massive blood loss and long duration of anesthesia were the risk factors for postoperative IEs in high-altitude patients requiring intraoperative erythrocyte transfusion ( P<0.05). Conclusions:Age≥65 yr, American Society of Anesthesiologists Physical Status classification Ⅲ, extremely high altitude, history of cerebral infarction, high altitude polycythemia, low hemoglobin concentration before blood transfusion, large difference in intraoperative Hb concentrations, massive blood loss and long duration of anesthesia are the risk factors for postoperative IEs in high-altitude patients requiring intraoperative erythrocyte transfusion.

The "Developmental Origins of Health and Disease, DOHaD" theory suggests that adverse factors in early life can lead to the occurrence of chronic diseases in adulthood. In recent years, it has been discovered that maternal factors, intrauterine development environment and environmental exposure during pregnancy can mediate the changes of early egg/embryo development, promote the occurrence of reproductive disorders such as polycystic ovary syndrome, diminished ovarian reserve, and endometriosis, and induce intergenerational genetic effects. This article has reviewed the progress of research on maternal factors which may affect the pathogenesis of reproductive disorders, and expounds its mechanism from the perspectives of epigenetic mechanisms such as DNA methylation, histone modification and non-coding small RNA (miRNA) modification, with an aim to provide insights for studying the occurrence of adult reproductive disorders in early life and before pregnancy.

Objective To explore the diagnostic value of helical CT,fluid attenuated inversion recovery(FLAIR),magnetic resonance angiography (MRA)and susceptibility weighted imaging (SWI)at 3.0T MR for acute ischemic stroke (AIS).Methods 48 cases of AIS(<72 h)underwent conventional CT,MRI,MRA and SWI.The correlations between hyperdense middle cerebral artery sign (HMCAS),proximal hyperintense vessel sign(HVS),magnetic sensitive spatially-integrated susceptibility vessel sign(SVS),vascular dot middle cerebral artery sign(DMCAS),distal HVS and collateral circulation of the blood vessels surrounding leptomeninges expansion degree were analyzed.Results In 48 AIS cases,HMCAS were showed in 18(37.5%),DMCAS 12(25.0%),proximal HVS 33(68.7%), distal HVS 40(83.3%),SVS 43(89.6%)and surrounding soft meningeal vascular 39(81.2%).The difference between spatially-integrated SVS and HVS was statistically significant (P<0.05);For HVS and HMCAS responsibility blood vessels at the bottom,the difference was statistically significant(P<0.01).For pia mater lesions around the blood vessel and distal HVS display degree,the responsibility of the blood vessels was high consistency(P=0.789).The difference between MCA distal HVS and DMCAS was statistically significant (P<0.01).Conclusion It has obvious consistency for SVS,proximal HVS and HMCAS of MCA on the responsibility of AIS.SWI is better than FLAIR and CT.It has obvious statistical sighificance between DMCAS,HVS and surrounding leptomenings vasodilatiov.

Objective: With the clinical application and popularization of magnetic resonance equipment, the installed amount of 3.0T high field magnetic resonance in the hospital was gradually increasing. This paper summarized the various technical factors involved in the installation of 3.0T high field MRI, and provided scientific and valuable reference for the installation and management of high field magnetic resonance equipment. Methods: During the installed process of GE discovery 3.0T magnetic resonance, to explore the correlative relationship among series of preparation work about installation of magnetic resonance, such as the selection of machine room, civil construction, shield construction and related electrical facilities and so on, and complete the connecting work among them. Results: Finally, the hospital has successfully completed machine room preparation for the 3.0T magnetic resonance, and has provided site guarantee for obtaining high-quality magnetic resonance images. Conclusion: In view of the special, importance and higher requirement for machine room of the magnetic resonance equipment, the seriously research and analysis should be applied and a coordinated mechanism of various type work should be established before the equipment is installed. During the construction process of machine room, enough consideration for detail in every aspect can provide guarantee for completing high-quality construction during the scheduled period, and achieve a satisfying effect.

Objective To investigate the clinical value of susceptibility weighted imaging (SWI)combined with three dimensional pseudo continuous arterial spin labeling (3D-PCASL)on the prognosis analysis of acute cerebral infarction.Methods Thirty cases with acute cerebral infarction (< 72 h)underwent conventional MRI,MRA,3D-PCASL and SWI.NIHSS scores were performed at the time of examination and 3 months later.The correlation between the collateral blood vessels,regional cerebral blood flow (rCBF)detected by combination of SWI and 3D-PCASL with clinical prognosis were analyzed.Results Twenty-three cases showed collateral blood vessels in the lesions with 1 grade in 14,and 2 grade in 9.The average rCBFs in grade 0,1,2 infarction areas were (22.69±11.94)mL·100 g-1 ·min-1 ,(25.10±16.55)mL·100 g-1 ·min-1 and (33.04±24.24)mL·100 g-1 ·min-1 ,respectively.Collateral blood vessels,rCBF were positive correlated with the NIHSS scores (r=0.989,P< 0.01).18 cases showed multiple vessels around the lesions. The average rCBFs in the infarction area with or not with periphery collateral blood vessles were (28.33±24.24)mL·100 g-1 ·min-1 and (22.69±11.94)mL·100 g-1 ·min-1 ,respectively.There was a positive correlation between rCBF and NIHSS scores (r=0.897,P<0.01). Of 30 cases of acute cerebral infarction,the average CBFs in the infarct areas and the contralateral mirror areas were (26.92±18.22)mL·100 g-1 · min-1 and (34.22±12.37)mL·100 g-1 ·min-1 .There was significant difference (t=8.093,P<0.01).Conclusion The combination of SWI and 3D-PCASL can display the collateral blood vessels in the lesions and soft meninges,and provide the quantitative analysis of rCBF,which has important clinical significance for prediction of the prognosis of acute cerebral infarction.