Pituitary stalk interruption syndrome(PSIS) typically manifests initially as short stature due to growth hormone deficiency(GHD). Untreated chronic GHD may induce metabolic disturbances, leading to non-alcoholic fatty liver disease with rapid progression to liver cirrhosis. Liver cirrhosis can subsequently cause hepatopulmonary syndrome, resulting in hypoxemia and dyspnea. This article reports a case of a young male presenting with short stature, dyspnea, liver cirrhosis, and hepatopulmonary syndrome, ultimately diagnosed with PSIS. Following recombinant human growth hormone(rhGH) and other hormonal replacement therapies, the patient exhibited improvement in hepatic steatosis and fibrosis, with alleviation of dyspnea. Through analysis of this case, we provide clinical insights for diagnosing and managing cirrhosis and hepatopulmonary syndrome in such patients, highlighting that early diagnosis and timely initiation of rhGH replacement therapy can improve prognosis and quality of life.

Space radiation is the most important environmental harmful factor in long-term manned spaceflight and deep space exploration, and it may produce deterministic and stochastic effects on tissues and organs. In-depth research into the biological effects, mechanisms, and protective measures of space radiation is essential and serves as an important foundation for exploring radiation biology and promoting major manned space projects. Firstly, this review introduces the spatiotemporal distribution characteristics of space radiation during low-earth orbit flights, manned lunar landings, and deep space exploration missions, as well as the health risks and challenges it posed to astronauts. Then, it discusses medical requirements and exposure limits, risk assessment, and protection technologies included in the space radiation protection system established internationally and over 30 years of Chinese manned spaceflight departments. Finally, it outlines the subsequent work and prospects for further research.

Objective To investigate the effects and mechanisms of Huatan Quyu Decoction on learning and memory abilities in rats with vascular dementia(VD).Methods Totally 112 male SD rats were randomly selected with 16 rats as the sham-operation group,the remaining rats were used to prepare VD models by segmental ligation of the common carotid artery.The successfully modeled rats were randomly divided into model group,Huatan Quyu Decoction low-,medium-and high-dosage groups(6.1,12.1,24.2 g/kg),donepezil hydrochloride group(0.5 mg/kg)and combination group(Huatan Quyu Decoction 12.1 g/kg+donepezil hydrochloride 0.5 mg/kg),with 16 rats in each group.Each group was given the corresponding treatment measures for 4 weeks.The Morris water maze test was used to assess learning and memory abilities,neurological function was evaluated using Garcia score,HE staining was used to observe the morphology of the hippocampal tissue,ELISA was employed to detect the serum content of Aβ,immunohistochemistry was utilized to observe the β-catenin,LRP6 and GSK-3β protein expression in brain tissue.Results Compared with the sham-operation group,the escape latency of the model group rats was prolonged(P<0.01),the number of crossing platforms was reduced(P<0.01),and the neurological deficit score was decreased(P<0.01),the arrangement of hippocampal tissue cells was disorderly,and the tissue was severely damaged,the serum Aβ content increased(P<0.01),the expressions of β-catenin and LRP6 protein in brain tissue decreased,and the expression of GSK-3β protein increased(P<0.01).Compared with the model group,the escape latency of rats in each administration group was shortened,the number of crossing platforms increased,the neurological deficit score increased,the number of hippocampal cells was relatively more,the arrangement was more orderly,and the structure was relatively complete,the serum Aβ content decreased,the expressions of β-catenin and LRP6 proteins increased,and the expression of GSK-3β protein decreased.Among them,Huatan Quyu Decoction high-dosage group had a significantly better effect than Huatan Quyu Decoction low-and medium-dosage groups(P<0.01),and there was no statistical significance in various indicators compared with the donepezil hydrochloride group(P>0.05).Compared with the donepezil hydrochloride group,the combination group showed significant improvements in learning and memory abilities(P<0.01),the neurological deficit score significantly increased(P<0.01),the number of hippocampal cells significantly increased,arranged neatly,and structurally intact,the serum Aβ content significantly decreased(P<0.01),the expression of β-catenin and LRP6 proteins significantly increased,and the expression of GSK-3β protein significantly decreased(P<0.01).Conclusion Huatan Quyu Decoction can repair cognitive function in VD rats,improve learning and memory abilities,and alleviate VD symptoms by activating the Wnt/β-catenin signaling pathway to reduce serum Aβ content,decrease the apoptosis of nerve cells and alleviate the degree of pathological damage in hippocampal tissue.

Objective:To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification.Methods:A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78).Results:The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband′s father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+ PM2_Supporting+ PP2+ PP3+ PP4). Conclusion:The heterozygous c. 728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c. 728C>T variant of the TUBB8 gene, oocyte donation may be considered.

OBJECTIVE: To explore the genetic basis for a woman with oocyte maturation disorder during assisted reproductive treatment (ART), and to verify the source of the variant and its impact on oocyte maturation through family verification. METHODS: A 35-year-old infertile woman presented at the Reproductive Medicine Center of Gansu Provincial Maternal and Child Health Care Hospital on 20 October 2023 for a 10-year history of infertility despite unprotected intercourse was selected as study subject. Peripheral venous blood sample was collected from the proband. Next-generation sequencing (NGS) was used to detect the potential variant. Candidate variants were validated within her family by Sanger sequencing, and their deleteriousness was assessed with comprehensive bioinformatic analyses to elucidate their origin and impact on oocyte maturation. According to the Standards and Guidelines for the Interpretation of Sequence Variants (hereinafter referred to as ACMG Guidelines) formulated by the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of the candidate variant was rated. This study was approved by the Medical Ethics Committee of Gansu Provincial Maternal and Child Health Care Hospital (Ethics No.: 2023GSFYLS78). RESULTS: The proband underwent three controlled ovarian-stimulation cycles as part of assisted reproductive technology, yielding a total of 29 oocytes, among which only three were mature, whilst the remainders exhibited maturation arrest. Targeted sequencing of peripheral-blood DNA revealed a heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene. While the same variant was detected in the proband's father. Based on the ACMG guidelines, the variant was classified to be likely pathogenic (PS4_Supporting+PM2_Supporting+PP2+PP3+PP4). CONCLUSION The heterozygous c.728C>T (p.P243L) missense variant of the TUBB8 gene probably underlay the oocyte maturation disorder in the proband, which may be either autosomal dominant or autosomal recessive. For probands with oocyte maturation disorders caused by the heterozygous c.728C>T variant of the TUBB8 gene, oocyte donation may be considered.
Humans ; Female ; Adult ; Mutation, Missense ; Oocytes/metabolism* ; Heterozygote ; Tubulin/genetics* ; Infertility, Female/genetics* ; High-Throughput Nucleotide Sequencing ; Pedigree

Objective To quantitatively evaluate age-,sex-,and segment-related characteristics of lumbar disc degeneration(LDD)in patients with low back pain(LBP)using T1rho MRI,and assess its diagnostic value in early-stage disc degeneration.Methods A retrospective cross-sectional study was conducted on 89 LBP patients(balanced distribution across ages 20～29,30～39,40～49,50～59 years and genders)admitted in Department of Orthopedics of First Affiliated Hospital of Army Medical University from March 2024 to February 2025.All patients underwent lumbar MRI including T1rho sequences.Two senior radiologists performed blinded Pfirrmann grading on 445 intervertebral discs and measured T1rho values of the nucleus pulposus(NP).Kappa test was used to evaluate the inter-observer agreement of Pfirrmann grading,and Spearman correlation coefficient was employed to analyze the correlation between Pfirrmann grade and NP-T1rho value.Disc degeneration characteristics were compared across different ages,sexes,and spinal segments.After adjusting for body mass index(BMI)and gender,partial correlation analysis was used to assess the correlation between NP-T1rho value of each lumbar segment and age.Receiver operating characteristic(ROC)curve was plotted to analyze the diagnostic performance of T1rho quantification for early LDD in LBP patients.Results Good inter-observer agreement was observed in Pfirrmann grading across segments,with a Kappa coefficient of>0.70.The NP-T1rho values of all NP were in a strong negative correlation with Pfirrmann grades(r=-0.877,P<0.001).The NP-T1rho values were progressively decreased from Pfirrmann gradesⅠ to Ⅳ(P<0.001),with a steep decline between gradesⅡ and Ⅲ.The patients aged 20～29 and 30～39 years showed significantly higher NP-T1rho values in Pfirrmann grades Ⅰ and Ⅱ discs when compared with those aged 40～49 and 50～59 years(P<0.05).The males had significantly higher mean NP-T1rho values in grade I than the females(P=0.006).In the upper spinal segments(L1～L4),the males exhibited significantly higher mean NP-T1rho value than the females(P=0.025),and NP-T1rho value was decreased obviously with increase of age across all age groups(P<0.05).Except L5/S1 segments,NP-T1rho value and age in all spinal segments had significant negative correlations(r=-0.548～-0.349,P<0.001).The area under the curve(AUC)for distinguishing grade Ⅰ from Ⅱ discs was 0.824(95%CI:0.772～0.876),and for grades Ⅱ from Ⅲ was 0.978(95%CI:0.964～0.992).Conclusion T1rho MRI provides accurate quantitative assessment of early lumbar disc degeneration in LBP patients,with an NP-T1rho value of 79.87 ms serving as a discriminative threshold between grade Ⅱ and grade Ⅲ.

Objective:To evaluate the reliability and validity of the Chinese version of Consultation and Relational Empathy (CARE) Measure in the Mandarin speaking population.Methods:From March to June 2018, patient interviews and expert consultations were conducted to explore problems of CARE in Mandarin context and preliminary revisions were made to the measure, then the final adapted tool was developed. A questionnaire survey on the validity of the measure was conducted from July to August 2018, among 373 patients from three community health service centers in Beijing Chaoyang District, selected by convenience sampling. The questionnaire included general information of participants and the revised CARE measure. The results of the survey were analyzed for the reliability and validity of Chinese version of CARE measure.Results:In the culture adaptation stage, 30 word-changes and 13 phrase-changes were made to improve the cultural adaptation of CARE. A total of 373 valid questionnaires were were collected with a valid recovery rate of 100.0%. The participants had a mean age of (60.8±13.12) years, with females of 68.6% (256/373), junior high school or high school education of 58.7% (219/373), and retirees of 71.3% (266/373). The results showed that there was a significant difference in scores of each item between the high group (top 27%) and the low group (bottom 27%) ( P<0.001). There was a positive correlation between each item and the total score, with a correlation coefficient between 0.817 and 0.868 ( P<0.001). The reliability analysis results show that the Cronbach′s α of the revised CARE was 0.960. In the content validity analysis, among the 10 items, the proportion of patients who considered the item "not applicable" was between 1.1% and 4.8%, and the proportion who considered the item "important" was between 92.8% and 96.2%. In exploratory factor analysis, KMO=0.944 and Bartlett′s sphericity test P<0.001. One common factor with an eigenvalue>1 was extracted, and the cumulative variance explained by which was 73.85%, with the load value of each item of 0.815-0.909. Conclusion:The revised Chinese version of CARE measure shows good reliability and validity and it can be applied in primary care settings for Mandarin speaking population.

Objective To investigate the clinical and CT findings features of nonaneurysmal perimesencephalic subarachnoid hem-orrhage(NAPSAH).Methods A retrospective analysis was conducted on 19 cases of NAPSAH confirmed by clinical treatment and follow-up,and their clinical and CT findings features were summarized.Results All patients exhibited mild clinical symptoms and had a good prognosis without complications.The sites of NAPSAH involved the anterior cistern in 17 cases,the suprasellar cistern in 8 cases,the interpeduncular cistern in 7 cases,the anterior cistern only in 1 case,and the suprasellar cistern only in 1 case;Among them,4 cases had vertebrobasilar dolichoectasia(VBD)and 3 cases had tortuous prolongation of vertebrobasilar artery.Conclusion The incidence of NAPSAH is low,the clinical symptoms are mild and good prognosis.It has typical imaging features.Most of its hemorrhage sites are confined to the anterior cistern,suprasellar cistern and interpeduncular cistern.Combining clinical and CT find-ings helpful to improve the accuracy of diagnosis.

Purpose To investigate the expression of LAMB3 and ITGB4 in esophageal squamous cell carcinoma(ESCC)and analyze their associations with clinicopathological features.Methods Bioinformatics was used to assess the expression of LAMB3 and ITGB4 in pan-cancer and ESCC.Immunohistochemistry was performed to evaluate their expression and distribution in ESCC tissues,and correlations clinicopathological features were analyzed.Follow-up data were collected to construct Kaplan-Meier survival curves,and Cox regression analysis was proformed to determine their prognostic significance.Results Bioinformatics analysis showed that LAMB3 and ITGB4 were highly expressed in ES-CC tissues(P＜0.001).Immunohistochemistry confirmed that both proteins were localized in the cytoplasm and membrane of tumor cells.High LAMB3 expression was significantly associated with poor differentiation(P＜0.001),lymph node metastasis(P=0.015),and T staging(P＜0.001).High ITGB4 expression was significantly correlated with poor differentiation(P=0.004)and advanced T staging(P=0.004).Cox regression analysis identified high ex-pression of LAMB3 and ITGB4 as independent prognostic factors for overall survival[HR=4.97(95％CI:2.73-9.02);HR=2.33(95％CI:1.36-3.99)].Conclusion LAMB3 and ITGB4 are highly expressed in ESCC.High LAMB3 expression is associated with tumor differentiation,lymph node metastasis,and T staging,while high ITGB4 expression is correlated with tumor differentiation and T staging.Patients with high expression of LAMB3 or ITGB4 have poorer overall survival,suggesting that these proteins may serve as prognostic biomarkers for unfavorable outcome in ESCC.