Objective To investigate the sleep disorders and its effects on the changes in quality of life in patients with liver cancer from the hospital admission to 6 months after surgery and to analyse the correlation between the sleep disorder and quality of life.Methods A total of 214 patients who underwent surgery for liver cancer for the first time were included in the study.Demographic questionnaire,Pittsburgh sleep quality index(PSQI),and functional assessment of cancer therapy-hepatobiliary(FACT-Hep)were used for the investigation at admission and at 1,3 and 6 months after surgery.Multiple linear regression was employed to analyse the correlation between the sleep disorders at the admission and its effect on quality of life up to 6 months after surgery.Results Toally 214 patients finished the study at admission and 209 finished the study 1 month after surgery,and 208 finished the stuoly 3 months after surgery,and 205 patients finished the study 6 months after surgery.The scores of both of PSQI at admission and the quality of life at 6 months after surgery varied across the tested time points with a statistically significant difference(both P<0.001).The overall level of sleep disorder in the patients showed a characteristic pattern with initially increasing and then decreasing,and the quality of life presented a characteristic tendency of starting from high to low and then gradually increasing.It showed that the sleep disorder at admission was attributive to the poorer quality of life at 6 months after surgery.The hierarchical regression analysis showed that among the patients at BCLC Stage A,sleep disorder at admission was the influencing factor of the quality of life at 6 months after surgery.Conclusions The sleep disorder and quality of life in the patients who had surgical operations for hepatocellular carcinoma both changed dynamically from admission to the 6 months after surgery.The quality of life was poor in the patients with sleep disorder at admission.Therefore,medical staff should enhance the sleep management at admission,conduct dynamic assessment of the sleep disorder and quality of life of the patients,and then develop continuity nursing measures to improve the quality of life after surgery.

Objective:To explore the clinical and molecular basis for a Chinese pedigree affected with Complete androgen insensitivity syndrome (CAIS).Methods:A CAIS pedigree presented at Tianjin Medical University General Hospital between 2019 and 2021 was selected as the study subject. Clinical data of the proband was collected, along with peripheral blood samples from the proband and her family members. Chromosomal karyotyping, sex-determining region of the Y chromosome ( SRY) testing, and next-generation sequencing (NGS) were carried out for the proband, and candidate variant was verified by Sanger sequencing of her family members. Prenatal diagnosis was provided for the sister of the proband. This study was approved by Medical Ethics Committee of the Tianjin Medical University General Hospital (Ethics No. IRB2023-WZ-070). Results:The 18-year-old proband, who has a social gender of female, underwent laparoscopic examination, which showed no presence of uterus and ovaries. The karyotype of peripheral blood sample was 46, XY, with SRY gene detected. NGS indicated that the proband has harbored a heterozygous c. 1988C>G (p.Ser663Ter) variant of the AR gene. Sanger sequencing confirmed that her mother and sister had both harbored the same variant, whilst her father and younger sister were of the wild-type. Prenatal diagnosis revealed that her sister′s first fetus had harbored carried the same variant, which had led to termination of pregnancy. Her second fetus did not carry the variant, and a healthy boy was born. Based on guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was classified as likely pathogenic (PM2_Supporting+ PM4+ PP3_Moderate+ PP4). Conclusion:The c. 1988C>G (p.Ser663Ter) variant of the AR gene probably underlay the CAIS in the proband. The accurate diagnosis of sex development disorders will rely on the physicians′ thorough understanding of the clinical symptoms and pathogenic genes. Genetic testing and counseling can enable precise diagnosis, prenatal diagnosis, and guidance for reproduction

Objective:To explore the clinical and genetic characteristics of a fetus diagnosed with Congenital myasthenic syndrome type 16 (CMS16).Methods:A couple who had visited Tianjin Medical University General Hospital in February 2018 due to "adverse outcome of two pregnancies" was selected as the study subject. Clinical data was gathered. Peripheral blood and amniotic fluid samples were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. Low-depth whole-genome sequencing was carried out to detect copy number variation (CNV) in the fetus.Results:The couple′s first pregnancy had resulted in a miscarriage at 27 + 5 weeks, when ultrasound had revealed pleural effusion and polyhydramnios in the fetus. Their second pregnancy was terminated at 30 + 5 weeks due to fetal hand malformations, polyhydramnios and pleural fluid. Both couple had denied family history of genetic conditions. For their third pregnancy, no CNV abnormality was detected, whilst a compound heterozygous variants, including a maternally derived c. 3172C>T (p.R1058W) and paternal c. 1431delG (p.K477fs*89) in the SCN4A gene were detected. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 3172C>T (p.R1058W) was predicted as a likely pathogenic variant (PM1+ PM2_supporting+ PP3+ PP4), whilst the c. 1431delG (p.K477fs*89) was predicted as a pathogenic variant (PVS1+ PM2_supporting+ PP4). Conclusion:The c. 3172C>T (p.R1058W) and c. 1431delG (p.K477fs*89) compound heterozygous variants of the SCN4A gene probably underlay the CMS16 in the third fetus.

Cancer patients generally suffer from depression,and long-term depression may exacerbate fatigue,sleep disor-ders,pain,and psychological distress,affecting the overall treatment effectiveness of cancer patients and ultimately impacting their quality of life and prognosis.Therefore,this article mainly reviews the research status and influencing factors of depression trajectories in cancer patients,providing reference for precise and personalized depression management for cancer patients.

OBJECTIVE: To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies. METHODS: 10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13. RESULTS: The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly. CONCLUSION The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.
Pregnancy ; Female ; Humans ; Trisomy/genetics* ; Retrospective Studies ; Prenatal Diagnosis/methods* ; Down Syndrome/genetics* ; Aneuploidy ; Chromosome Aberrations ; Trisomy 18 Syndrome/genetics* ; Sex Chromosome Aberrations ; Fetus

OBJECTIVE: To carry out prenatal diagnosis for a fetus with mosaicism Yq deletion. METHODS: A fetus with high risk of sex chromosomes indicated by non-invasive prenatal testing (NIPT) at Tianjin Medical University General Hospital in July 2021 was selected as the study subject. Prenatal diagnosis of the fetus was performed with combined G-banded chromosomal karyotyping, fluorescence in situ hybridization (FISH), copy number variation sequencing (CNV-seq), real-time fluorescence PCR (QF-PCR), and ultrasound examination. RESULTS: Analysis of the amniocytes at 23 gestational weeks had yielded a 45,X karyotype. However, FISH had shown signals of Y chromosome. Re-examination by cordocentesis had shown a mosaicism of 46,X,+mar[33]/45,X[17]. FISH showed that 69% of the cells had contained Y chromosome signals. The result of CNV-seq was seq[19]del(Y)(q11.1q12)(mos) chrY: g.13200001_ 28820000del (mosaicism rate = 64%), which suggested mosaicism for a Yq deletion, which encompassed the azoospermia factor (AZF) region. Deletion of the AZF region was verified by QF-PCR. The fetal karyotype was ultimately determined as mos46,X,del(Y)(q11.1)[33]/45,X[17]. Although ultrasound examination had shown no abnormality in the fetus, the couple had opted to terminate the pregnancy, and the induced fetus had a normal male appearance. CONCLUSION The combined use of multiple techniques is beneficial for accurate and rapid prenatal diagnosis. For fetuses with mosaicism chromosomal abnormalities, it may be difficult to accurately predict the postnatal phenotype. It is therefore necessary to further explore their genotype-phenotype correlation in order to provide better guidance upon genetic counseling.
Female ; Pregnancy ; Male ; Humans ; Mosaicism ; DNA Copy Number Variations ; In Situ Hybridization, Fluorescence ; Y Chromosome ; Fetus

Objective To analyze the literature on the application of infrared technology in acupuncture and moxibustion at home and abroad by using bibliometrics and visualization software,discuss the research status,main forces,frontier hotspots and dynamic trends,and provide reference for promoting the cross fusion application of infrared technology in acupuncture and moxibustion research.Methods In this study,CiteSpace and VOSviewer were used to analyze the number of articles,authors,institutions and keywords of 478 articles screened from CNKI and 188 articles screened from Web of Science Core Collection database in the field of acupuncture and moxibustion,drawing the visual map of authors,institutions and keywords.Cluster,co-occurrence and time superposition analysis of keywords were made at the same time.Results The research on the application of infrared technology in acupuncture and moxibustion started earlier in China,while the international research started later.Xu Jinxin,Shen Xueyong,Pan Xiaohua and Ding Guanghong have done a lot of work in the cross research of infrared technology and acupuncture and moxibustion.Internationally,Litscher gerhard,Shen xueyong and Yoo ho-ryong are the main authors.The Fujian Academy of Traditional Chinese Medicine,Shanghai University of Traditional Chinese Medicine and Beijing University of Traditional Chinese Medicine have the highest number of papers;Internationally,Med Univ Graz,Daejeon Univ and Korea Inst Oriental Med are the main research institutions.The hot spots of visualization discovery are the application of infrared thermal imaging technology to diagnose and evaluate the clinical efficacy of acupuncture related therapies,the assistance of infrared therapeutic effects in acupuncture and moxibustion to enhance the clinical efficacy and product transformation development,the exploration of the meridian along the line development phenomenon,the infrared spectral characteristics of meridians and acupoints to assist in disease diagnosis,the study of infrared radiation spectral characteristics of moxibustion,and the functional near-infrared spectral imaging study of acupuncture and moxibustion therapy.Conclusion The cross fusion of infrared technology and acupuncture covers both diagnosis and clinical aspects,involving theoretical research and applied research.At present,it is mainly carried out around six hot spots.The application research of infrared technology in the field of acupuncture and moxibustion has great development potential,which is worthy of more in-depth cross fusion research and cooperation between multiple institutions and personnel;In the future,infrared meridian and acupoint diagnostic equipment,the introduction of new infrared technology and the molecular mechanism of acupuncture meridian specific infrared phenomenon will have broad prospects.

Objective To overview the methodological quality,report quality and evidence quality of the Meta-Analyses/Systematic Reviews(MAs/SRs)of acupuncture for post-stroke cognitive impairment(PSCI).Methods A search was conducted for MAs/SRs on PSCI using English or Chinese from inception to 20 February 2022 published in four Chinese databases:CNKI,Wanfang,VIP,CBM;and three English databases:PubMed,Embase and Cochrane Library.The MAs/SRs were evaluated for methodological quality using AMSTAR 2 and for reporting quality using PRISMA,and the quality of evidence was assessed using the GRADE system.Results A total of 18 MAs/SRs were included in this study,of which 89%showed the effectiveness and safety of acupuncture for PSCI.According to AMSTAR 2,1 study was of low methodological quality and 17 studies were of critically low quality;according to PRISMA,1 study was of high quality,16 studies were of moderate quality and 1 study was of poor quality;GRADE showed that of the 71 outcomes included,however,there was no evidence of high quality outcomes,with 10 of moderate quality,17 of low quality,and 44 of very low quality.Conclusion Acupuncture may be effective and safe in the treatment of PSCI,but in current acupuncture for PSCI is generally of low quality and should be interpreted with caution.

Objective A scoping review of clinical research studies on acupuncture and moxibustion intervention in mild cognitive impairment(MCI),to get a comprehensive understanding of the current state of research in the field,in order to provide reference for the key research direction and clinical decision-making of acupuncture and moxibustion intervention in MCI in the future.Methods Systematic searches were carried out in Chinese and English databases(such as CNKI,Wanfang,VIP,China Biomedical Database,Pubmed,Web of Science,Embase,The Cochrane library),and trial registration platforms(such as WHO ICTRP and Clinical Trials.gov).the clinical studies and Systematic Reviews(SRs)and/or Meta-analyses(MAs)of acupuncture and moxibustion in the treatment of MCI were collected.The search language is limited to Chinese and English,and the search time is from the establishment to July 27,2022.The final included studies were summarized from the aspects of annual publication trend,the patterns of Traditional Chinese medicine(TCM)syndrome differentiation,acupuncture treatment plan,and outcome indicators of clinical studies.AMASTAR 2 was used to evaluate the methodological quality of SRs/MAs,and evidence mapping was constructed using bubble charts,etc.Results 108 original clinical studies and 9 SRs/MAs were included.The included clinical studies were randomized controlled trials.From 2006 to 2022,the number of publications generally showed an upward trend.Kidney essence deficiency syndrome was the most common dialectical classification in TCM.Special acupuncture treatment regimens are most common as interventions.And outcome measures were mainly Mini-Mental State Examination,Montreal Cognitive Assessment,and Activities of Daily Living,and so on.The assessment of AMSTAR 2 showed at least more than 2 critical flaws,the methodological quality of included SRs/MAs was critically low.Conclusion At present,acupuncture and moxibustion intervention for MCI has a good development prospect and is worthy of in-depth study,but there are still problems such as a single type of clinical study,lack of unified standards for TCM syndrome differentiation,and further standardization of outcome indicator reporting.In addition,the quality of existing evidence for SRs/MAs is generally low,and more in-depth studies are needed to clarify the clinical efficacy and safety of acupuncture and moxibustion intervention for MCI.

To sum up professor Liang Fanrong's clinical experience in treating tinnitus with the theroy of wind.Professor LIANG suggests that pathogenesis of tinnitus is the wind disturbing the ear.Expelling wind and dredging collaterals,harmonizing the middle energizer,and dredging the Governor vessel and brain-strengthening are the basic treatment laws.GB20,SJ17,GB19,SJ21,SI19,GB2,SJ5,SJ3,ST25,RN6,RN12,DU20,DU24,and EX-HN1 compose the foundation of prescription.Selection of acupoints according to syndrome differentiation.Combined with moxibustion treatment.To strengthen the desired sensation with technique of acupuncture manipulation.