Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

OBJECTIVE: To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods. METHODS: Four patients presented at Northwest Women's and Children's Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022). RESULTS: The chromosomal karyotypes of the patients were mos 46,XX,fra(16)(q22)[26]/47,XX,del(16)(q22),+chrb(16)(q22)[4]/46,XX,del(16)(q22)[3]/46,XX[91], mos 46,XY,fra(16)(q22)[21]/46,XY,del(16)(q22)[3]/46,XY[76], mos 46,XX,fra(16)(q22)[21]/ 46,XX,del(16)(q22)[4]/46,XX[75] and mos 46,XX,fra(16)(q22)[16]/46,XX,del(16)(q22)[7]/47,XX,del(16)(q22),+chrb(16)(q22)[6]/47,XX,fra(16)(q22),+chrb(16)(q22)[3]/46,XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16. CONCLUSION Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.
Humans ; Chromosome Fragile Sites/genetics* ; Chromosomes, Human, Pair 16/genetics* ; DNA Copy Number Variations/genetics* ; Karyotyping

With the rapid development of generative artificial intelligence(GAI)technologies,their widespread application in academic research and writing is continuously expanding the boundaries of sci-entific inquiry.However,this trend has also raised a series of ethical and regulatory challenges,inclu-ding issues related to authorship,content authenticity,citation accuracy,and accountability.In light of the growing involvement of AI in generating academic content,establishing an open,controllable,and trustworthy ethical governance framework has become a key task for safeguarding research integrity and maintaining trust within the academic community.This expert consensus outlines ethical requirements across key stages of AI-assisted academic writing-including topic selection,data management,citation practices,and authorship attribution.It aims to clarify the boundaries and ethical obligations surrounding AI use in academic writing,ensuring that technological tools enhance efficiency without compromising in-tegrity.The goal is to provide guidance and institutional support for building a responsible and sustainable research ecosystem.

Objective:To analyze four patients with a 16q22 fragile site with miscarriage or infertility by using cytogenetic methods.Methods:Four patients presented at Northwest Women′s and Children′s Hospital between January 2022 and December 2024 were selected as the study subjects. Peripheral blood samples were collected from the patients and subjected to G-banded chromosomal karyotyping, among whom two were also subjected to copy number variation (CNV) sequencing. This study has been approved by the Ethics Committee of the Hospital (Ethics No. 2020-022).Results:The chromosomal karyotypes of the patients were mos 46, XX, fra(16)(q22)[26]/47, XX, del(16)(q22), + chrb(16)(q22)[4]/46, XX, del(16)(q22)[3]/46, XX[91], mos 46, XY, fra(16)(q22)[21]/46, XY, del(16)(q22)[3]/46, XY[76], mos 46, XX, fra(16)(q22)[21]/ 46, XX, del(16)(q22)[4]/46, XX[75] and mos 46, XX, fra(16)(q22)[16]/46, XX, del(16)(q22)[7]/47, XX, del(16)(q22), + chrb(16)(q22)[6]/47, XX, fra(16)(q22), + chrb(16)(q22)[3]/46, XX[68], respectively. CNV sequencing of patients 2 and 4 revealed no deletion or duplication on chromosome 16.Conclusion:Identification of the 16q22 fragile site has facilitated genetic counseling for these patients.

OBJECTIVE: Epstein-Barr virus associated gastric cancer (EBVaGC) is different from the traditional gastric cancer (Epstein-Barr virus non-associated gastric cancer, EBVnGC), and has unique clinicopathological features. This study investigated the largest single center cancer series so as to establish the clinicopathological and molecular characteristics of EBVaGC in China. METHODS: A retrospective analysis was conducted on EBVaGC and EBVnGC patients diagnosed at Peking University Cancer Hospital from 2003 to 2018 by comparing their clinicopathological features and prognosis. The gastric cancer (GC) dataset of public database was analyzed to obtain differentially expressed genes. The expression of important genes and their association with prognosis of GC were verified in GC tissues from our hospital. RESULTS: In this study, 3 241 GC patients were included, and a total of 163 EBVaGC (5.0%) patients were identified. Compared with EBVnGC, EBVaGC was higher in male and younger patients, and positively associated with remnant GC, poorly differentiated adenocarcinoma, and mixed type GC. EBVaGC was inversely related to lymph node metastasis. The 5-year survival rate of EBVnGC and EBVaGC was 59.6% and 63.2% respectively (P<0.05). In order to explore molecular features of EBVaGC, the Cancer Genome Atlas (TCGA) dataset was analyzed (n=240), and 7 404 significant differentially expressed genes were obtained, involving cell proliferation, apoptosis, invasion and metastasis. The down-regulated invasion/metastasis gene SALL4 and the up-regulated immune checkpoint gene PD-L1 were important molecular features of EBVaGC. Validation of these two genes in large GC series showed that the majority of the EBVaGC was SALL4 negative (1/92, 1.1%, lower than EBVnGC, 303/1 727, 17.5%), and that PD-L1 was mostly positive in EBVaGC (81/110, 73.6%, higher than EBVnGC, 649/2 350, 27.6%). GC patients with SALL4 negative and PD-L1 positive were often associated with better prognosis. CONCLUSION EBVaGC is a unique subtype of GC with less metastasis and a good prognosis. It also has a distinct molecular background. The down-regulation of invasion/metastasis gene SALL4 and up-regulation of immune checkpoint gene PD-L1 are important molecular features.
China ; Epstein-Barr Virus Infections/complications* ; Female ; Herpesvirus 4, Human ; Humans ; Male ; Retrospective Studies ; Stomach Neoplasms/etiology*

OBJECTIVEThis clinical study was designed to evaluate the efficacy and toxicity of the combined regimen of docetaxel, 5-Fu and DDP (TPF) in the treatment of advanced or relapsed nasopharyngeal carcinoma (NPC).

METHODSFifty-six patients with newly diagnosed or recurrent/metastatic NPC following chemotherapy or radiotherapy were enrolled. Both docetaxel and DDP were administered intravenously for 6 hours at the dose of 70 mg/m2 on D1. 5-Fu was given at a dose of 400-500 mg/m2 for 6 hours from D1 to D5. Dexamethasone was routinely administered before injection of docetaxel. This combination was repeated every 3 to 4 weeks, and continued for 4-6 cycles or until PD for the responders.

RESULTSFifty-one (91.1%) patients were evaluable for response assessment. The response rate for whole group was 72.5% (37/51) with a CR rate of 9.8% (5/51). The stable disease accounted for 17.6% (9/51). There were 17(30.4%) chemotherapy-naïve patients. The overall response rate in those was 82.4% with a CR rate of 29.4%. However, the response rate for previously treated patients was 64.7% without CR. Twelve patients had progressed disease, including 5 (8.9%) died of disease progression with a median follow-up of 11 month (ranged from 1 to 19 months). Totally, 196 courses of chemotherapy were administered. The major toxicity was myelosupression, nausea/vomiting. The incidence of leucopenia was 48% with 22.2% of these in NCI grade II or IV. But only 2 patients (3.6%) experienced leucopenia with a fever. Other mild toxicities including alopecia, asthenia, mucositis and diarrhea were also observed.

CONCLUSIONOur preliminary outcome shows docetaxel, 5-Fu and DDP combination is effective and safe for the patients with advanced or relapsed nasopharyngeal carcinoma. But further clinical study is warranted.

Adolescent ; Adult ; Aged ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Carcinoma, Squamous Cell ; drug therapy ; pathology ; Cisplatin ; administration & dosage ; Female ; Fluorouracil ; administration & dosage ; Follow-Up Studies ; Humans ; Leukopenia ; chemically induced ; Male ; Middle Aged ; Nasopharyngeal Neoplasms ; drug therapy ; pathology ; Nausea ; chemically induced ; Neoplasm Recurrence, Local ; Neoplasm Staging ; Remission Induction ; Taxoids ; administration & dosage ; Young Adult

Objective To investigate and analyze the wounded's stale of ear,nose,throat,neck and head injury in Wenchuan earthquake. Methods The 206 wounded cases,who was treated in No.452 Hospital of People's Liberation Army,were investigated specially with emphasis on injury casue,severity and treatment. Results The injured 165 cases among the 206 were in hospital,while the cases who related to the injury of ear,nose and throat were 37 cases (22.4%). Among the inpatients,the trauma of torhinolaryngology and head and neck included:ear injuries totally 13 cases (including haemotympanum 2 cases),extraneous matter 4 cases,haemorrhagia 4 cases,nasalis and the fracture of nasal bone and nasal sinuses 7 cases (including cerebrospinal rhinorrhea 1 case),zygomatica abscess 1 case,fracture of mandible 4 cases,lip injureies 2 cases and hoarse 2 cases. The inpatients were wounded mostly because of failing and stepping.All the inpatients recovered well after properly management by ENT doctors.Concldusions Maxillofacial injury of the wounded those were medical evacuation in the earthquake area,was ignored more readily comparing to the injury of other spots,so specialist should examine early and treat properly the people as soon as possible.