OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

Objective:To analyze the application efficacy of employing high-density porous polyethylene （Su-por） in combination with temporoparietal fascial flaps via a minimally invasive scalp incision in auricular reconstruction. Methods:This study carried out a retrospective analysis of 50 patients （50 ears in total） who underwentprimary auricular reconstruction with a Su-por scaffold in our hospital from June 2022 to January 2024. All patients underwent primary auricular reconstruction using a minimally invasive scalp incision with high-density porous polyethylene （Su-por） and temporoparietal fascial flaps. The postoperative treatment effects and complications were statistically analyzed. Results:The reconstructed ears of all patients survived. After 6 months of follow-up, the scar hyperplasia of the scalp minimally invasive incision was not obvious in any patient, and no significant hair loss was observed. The reconstructed auricle of 48 patients had a realistic shape and strong three-dimensional sense. With the extension of follow-up time, the three-dimensional structure of the auricle became clearer, and patient satisfaction increased. Among the remaining two patients, one case of flap necrosis survived after skin grafting and dressing changes. One patient had scar hyperplasia at the incision of the reconstructed ear due to a scar-prone constitution, and the shape of the auricle was not ideal, but the scar hyperplasia at the scalp incision was not obvious. Conclusion:One-stage ear reconstruction with high-density porous polyethylene （Su-por） combined with superficial temporal fascia flap through a minimally invasive scalp incision can better show the fine structure of the reconstructed ear. The minimally invasive scalp incision can effectively reduce the occurrence of scar hyperplasia and postoperative alopecia at the scalp incision.
Humans ; Plastic Surgery Procedures/methods* ; Retrospective Studies ; Surgical Flaps ; Tissue Scaffolds ; Polyethylene ; Ear Auricle/surgery* ; Male ; Scalp/surgery* ; Female ; Skin Transplantation ; Fascia/transplantation* ; Porosity ; Adult ; Middle Aged

Ovulatory dysfunction (OD) is one of the main causes of infertility in women of childbearing age, which not only affects their reproductive ability, but also physical and mental health. Traditional treatment strategies have limited efficacies, and the emergence of biomedicines provides a promising alternative solution via the strategies of combining engineered design with modern advanced technology. This review explores the pathophysiological characteristics and related induction mechanisms of OD, and evaluates the current cutting-edge advances in its treatments. It emphasizes the potentials of biomedicines strategies such as hydrogels, nanoparticles and extracellular vesicles in improving therapeutic precision and efficacy. By mimicking natural physiological processes, and achieving controlled drug release, these advanced drug carriers are expected to address the challenges in ovarian microenvironment reprogramming, tissue repair, and metabolic and immune regulation. Despite the promising progress, there are still challenges in terms of biomedical complexity, differences between animal models and human physiology, and the demand for intelligent drug carriers in the therapy of OD. Future researches are mainly dedicated to developing precise personalized biomedicines in OD therapy through interdisciplinary collaboration, promoting the development of reproductive regenerative medicine.

Objective To explore the mediating role of intolerance of uncertainty(IU)and moderating role of the negative emotion differentiation in the influence of perceived stress on anxiety among college students from a cognitive perspective.Methods A total of 271 participants were surveyed using the perceived stress scale,intolerance of uncertainty scale,depression anxiety and stress scale(Chinese version),and the test on negative emotional differentiation.SPSS 22.0 was used to perform descriptive statistics and correlation analyses and to test the moderated mediation model.Results Perceived stress affected anxiety and IU played a mediating role-perceived stress could affect anxiety through influencing IU.At the same time,the influence of IU on anxiety could be adjusted through the negative emotion differentiation.The higher the degree of negative emotion differentiation,the lower the degree of anxiety increase(β=0.17,t=5.70,P＜0.01).Conclusion It may be effective to develop training programs to reduce anxiety by regulating perceived stress,increasing acceptance of uncertainty,and improving the negative emotion differentiation,which can help individuals reduce anxiety by perceiving and adjusting anxiety-related emotional or cognitive factors in a timely manner.

Objective To investigate the function of glymphatic system in patients with mild traumatic brain injury via diffusion tensor imaging analysis along the perivascular space(DTI-ALPS)index and its relationship with clinical features.Methods The clinical and imaging data from 163 patients with mild traumatic brain injury were retrospectively collected,including 31 cases with MRI-negative findings and 132 cases with MRI-positive findings.In addition,29 healthy individuals underwent physical examinations were included as a control group.The differences in DTI-ALPS index and clinical features between mild traumatic brain injury and control group,as well as among subgroups of traumatic brain injury were analyzed.Results The DTI-ALPS index in patients with mild traumatic brain injury were significantly higher than those in control group(P＜0.05).Subgroup analysis showed that DTI-ALPS index of traumatic brain injury patients with MRI-negative findings and MRI-positive findings were all significantly higher than those of control group(P=0.023 and 0.004,respectively).Compared to control group,DTI-ALPS index in mild traumatic brain injury patients gradually increased with the progression of injury,and the difference was statistically significant(P=0.008).Conclusion Patients with mild traumatic brain injury exhibit increased functional activity of glymphatic system,as indicated by increased DTI-ALPS index,which further increase with the progression of injury.

Male reproductive aging is characterized by degenerative changes in the structure and function of the testes. Testicular aging involves alterations in various types of cells, among which lysosomal dysfunction in Sertoli cells is particularly critical. Recent studies have shown that abnormal lysosomal acidification leads to impaired phagosome degradation, which fails to maintain normal nutrient cycling and thereby exacerbates damage to the testicular microenvironment. In addition, endoplasmic reticulum stress, mitochondrial dysfunction, and epigenetic changes are also important factors contributing to reproductive aging. Therefore, molecular intervention strategies targeting lysosomal dysfunction, mitochondrial oxidative stress, and endoplasmic reticulum stress, such as the use of lysosomal activators like ML-SA1 and antioxidants, may offer new therapeutic directions for alleviating male reproductive aging. Future research should further explore the interactions between these mechanisms and potential intervention targets to improve reproductive health and quality of life in middle-aged and older men.

BACKGROUND:It is urgent to improve the study on the molecular mechanism of Ban's Culuan Zhuyun Decoction improving oocyte quality in polycystic ovary syndrome.OBJECTIVE:To observe the effects of Ban's Culuan Zhuyun Decoction on oocyte quality in a mouse model of polycystic ovary syndrome and to explore the underlying mechanisms of its intervention in polycystic ovary syndrome.METHODS:Subcutaneous injection of dehydroepiandrosterone sulfate was used to establish the polycystic ovary syndrome model in 21-day-old female Kunming mice,and the treatment was conducted for 21 consecutive days.The estrous cycle and pregnancy was recorded.ELISA was used to detect serum sex hormone levels.The rate of apoptosis in oocytes was detected using Annexin V staining.The level of reactive oxygen species in oocytes was detected using dichlorodihydrofluorescein diacetate.The condition of spindle bodies and chromosomes in oocytes were detected using the immunofluorescence method.Network pharmacology and molecular docking were used to verify the binding properties of Ban's Culuan Zhuyun Decoction core active components and oocyte maturation-related factors(growth differentiation factor 9 and bone morphogenetic protein 15).Real-time fluorescence quantitative PCR and western blot were used to detect the mRNA and protein expression levels of growth differentiation factor 9 and bone morphogenetic protein 15 in oocytes,respectively.RESULTS AND CONCLUSION:(1)Ban's Culuan Zhuyun Decoction core active components(quercetin,kaempferol,and β-sitosterol)showed good binding activities with growth differentiation factor 9 and bone morphogenetic protein 15.(2)Ban's Culuan Zhuyun Decoction ameliorated the estrous cycle,regulated serum hormone,increased the pregnancy,decreased the rate of apoptosis,declined the level of reactive oxygen species,diminished the rate of abnormal spindle assembly and chromosome loss(P<0.01,P<0.05);and promoted the mRNA and protein expression of growth differentiation factor 9 and bone morphogenetic protein 15(P<0.05).Therefore,Ban's Culuan Zhuyun Decoction may improve the oocyte quality and increase the fertility of polycystic ovary syndrome mice by regulating the gene expression of growth differentiation factor 9 and bone morphogenetic protein 15.

Male reproductive aging is characterized by degenerative changes in the structure and function of the testes. Testicular aging involves alterations in various types of cells, among which lysosomal dysfunction in Sertoli cells is particularly critical. Recent studies have shown that abnormal lysosomal acidification leads to impaired phagosome degradation, which fails to maintain normal nutrient cycling and thereby exacerbates damage to the testicular microenvironment. In addition, endoplasmic reticulum stress, mitochondrial dysfunction, and epigenetic changes are also important factors contributing to reproductive aging. Therefore, molecular intervention strategies targeting lysosomal dysfunction, mitochondrial oxidative stress, and endoplasmic reticulum stress, such as the use of lysosomal activators like ML-SA1 and antioxidants, may offer new therapeutic directions for alleviating male reproductive aging. Future research should further explore the interactions between these mechanisms and potential intervention targets to improve reproductive health and quality of life in middle-aged and older men.

Objective To investigate the function of glymphatic system in patients with mild traumatic brain injury via diffusion tensor imaging analysis along the perivascular space(DTI-ALPS)index and its relationship with clinical features.Methods The clinical and imaging data from 163 patients with mild traumatic brain injury were retrospectively collected,including 31 cases with MRI-negative findings and 132 cases with MRI-positive findings.In addition,29 healthy individuals underwent physical examinations were included as a control group.The differences in DTI-ALPS index and clinical features between mild traumatic brain injury and control group,as well as among subgroups of traumatic brain injury were analyzed.Results The DTI-ALPS index in patients with mild traumatic brain injury were significantly higher than those in control group(P＜0.05).Subgroup analysis showed that DTI-ALPS index of traumatic brain injury patients with MRI-negative findings and MRI-positive findings were all significantly higher than those of control group(P=0.023 and 0.004,respectively).Compared to control group,DTI-ALPS index in mild traumatic brain injury patients gradually increased with the progression of injury,and the difference was statistically significant(P=0.008).Conclusion Patients with mild traumatic brain injury exhibit increased functional activity of glymphatic system,as indicated by increased DTI-ALPS index,which further increase with the progression of injury.