OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of a family with Dentinogenesis imperfecta type Ⅰ(DGI-Ⅰ). METHODS: Clinical data were collected from a patient with DGI-Ⅰ admitted to the Reproductive Medicine Department of the Affiliated Hospital of Jining Medical University in March 2024. Clinical and familial data were retrospectively collected. Peripheral blood samples (5 mL each) were obtained from the proband and her family members for genomic DNA extraction, followed by whole-exome sequencing (WES) and Sanger sequencing validation. The pathogenicity of the detected variants was assessed according to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the "ACMG Guidelines"). The study was approved by the Ethics Committee of the Affiliated Hospital of Jining Medical University (Ethics No. 2024-08-C012), and written informed consent for clinical research were obtained from all participants. RESULTS: The proband, a 35-year-old female, presented with translucent yellow primary teeth and progressive browning, darkening, and loss of permanent teeth, without skeletal abnormalities. Affected family members exhibited similar phenotypes. Genetic testing revealed a heterozygous COL1A2 variant (c.1503+1G>A) in the patient and other affected members, while unaffected family members all lacked this variant. Based on the ACMG Guidelines, this variant was classified as likely pathogenic (PM4 + PP1_Strong + PM2_Supporting). CONCLUSION The COL1A2 c.1503+1G>A heterozygous variant is the disease-causing mutation in this family. Above finding has expanded the mutational spectrum of the COL1A2 gene and provided a basis for genetic counseling and diagnosis in similar cases.
Humans ; Female ; Dentinogenesis Imperfecta/genetics* ; Collagen Type I/genetics* ; Adult ; Pedigree ; Mutation ; Male ; Phenotype ; Exome Sequencing

AIM: To explore the efficacy of 0.05% cyclosporine A combined with olopatadine eye drops in treating allergic conjunctivitis-related dry eye disease.METHODS: A total of 63 patients(63 eyes)with allergic conjunctivitis-related dry eye disease in the People's Hospital of Guangxi Zhuang Autonomous Region from August 2022 to April 2023 were enrolled and randomly divided into control group(n=33)and observation group(n=30). The patients of the control group were administrated with 0.1% olopatadine eye drops and 0.3% sodium hyaluronate eye drops, while the observation group was administrated with 0.1% olopatadine eye drops and 0.05% cyclosporine A eye drops. The ocular surface disease index(OSDI), total ocular symptom score(TOSS), conjunctival congestion score, conjunctival papillae and follicle score, Schirmer I test(SⅠt), tear meniscus height(TMH), meibomian gland secretion ability and property score, meibomian gland loss area score, corneal fluorescein staining(CFS), tear film break-up time(BUT), noninvasive first tear film break-up time(NIBUTf), noninvasive average tear film break-up time(NIBUTav)before and after treatment and the drug safety during the treatment period of both groups of patients were evaluated.RESULTS: After treatment, OSDI, TOSS, conjunctival congestion score, conjunctival papillae and follicle score, SⅠt, TMH, meibomian gland secretion ability score and property score, CFS, BUT, NIBUTf, and NIBUTav of the observation group showed improvements compared with those before treatment(all P<0.017). Among these, OSDI, TOSS, conjunctival congestion score, conjunctival papillae and follicle score, BUT, NIBUTf, and NIBUTav demonstrated significant improvement compared with the control group(all P<0.05). There was no statistically significant difference in meibomian gland loss area score between the two groups before and after treatment(P>0.05). During the treatment period, there were no local or systemic adverse reactions.CONCLUSION: The combined use of 0.05% cyclosporine A and olopatadine eye drops can significantly improve ocular discomfort symptoms of patients with dry eye disease associated with allergic conjunctivitis, such as red eyes, itchy eyes and foreign body sensation, promote tear film stability and have high safety.

Objective:To investigate the clinical phenotype and genetic characteristics of a family with Dentinogenesis imperfecta type Ⅰ(DGI-Ⅰ).Methods:Clinical data were collected from a patient with DGI-Ⅰ admitted to the Reproductive Medicine Department of the Affiliated Hospital of Jining Medical University in March 2024. Clinical and familial data were retrospectively collected. Peripheral blood samples (5 mL each) were obtained from the proband and her family members for genomic DNA extraction, followed by whole-exome sequencing (WES) and Sanger sequencing validation. The pathogenicity of the detected variants was assessed according to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ). The study was approved by the Ethics Committee of the Affiliated Hospital of Jining Medical University (Ethics No. 2024-08-C012), and written informed consent for clinical research were obtained from all participants.Results:The proband, a 35-year-old female, presented with translucent yellow primary teeth and progressive browning, darkening, and loss of permanent teeth, without skeletal abnormalities. Affected family members exhibited similar phenotypes. Genetic testing revealed a heterozygous COL1A2 variant (c.1503+ 1G>A) in the patient and other members, while unaffected family all members lacked this variant. Based on the ACMG Guidelines, this variant was classified as likely pathogenic(PM4 + PP1_Strong + PM2_Supporting). Conclusion:The COL1A2 c. 1503+ 1G>A heterozygous variant is the disease-causing mutation in this family. Above finding has expanded the mutational spectrum of the COL1A2 gene and provided a basis for genetic counseling and diagnosis in similar cases.

Objective:To investigate the clinical phenotype and genetic characteristics of a family with Dentinogenesis imperfecta type Ⅰ(DGI-Ⅰ).Methods:Clinical data were collected from a patient with DGI-Ⅰ admitted to the Reproductive Medicine Department of the Affiliated Hospital of Jining Medical University in March 2024. Clinical and familial data were retrospectively collected. Peripheral blood samples (5 mL each) were obtained from the proband and her family members for genomic DNA extraction, followed by whole-exome sequencing (WES) and Sanger sequencing validation. The pathogenicity of the detected variants was assessed according to the Classification Standards and Guidelines for Genetic Variants formulated by the American Society of Medical Genetics and Genomics (ACMG) (hereinafter referred to as the " ACMG Guidelines" ). The study was approved by the Ethics Committee of the Affiliated Hospital of Jining Medical University (Ethics No. 2024-08-C012), and written informed consent for clinical research were obtained from all participants.Results:The proband, a 35-year-old female, presented with translucent yellow primary teeth and progressive browning, darkening, and loss of permanent teeth, without skeletal abnormalities. Affected family members exhibited similar phenotypes. Genetic testing revealed a heterozygous COL1A2 variant (c.1503+ 1G>A) in the patient and other members, while unaffected family all members lacked this variant. Based on the ACMG Guidelines, this variant was classified as likely pathogenic(PM4 + PP1_Strong + PM2_Supporting). Conclusion:The COL1A2 c. 1503+ 1G>A heterozygous variant is the disease-causing mutation in this family. Above finding has expanded the mutational spectrum of the COL1A2 gene and provided a basis for genetic counseling and diagnosis in similar cases.

Objective:To evaluate the efficacy and safety of endoscopic ultrasound-guided selective varices devascularization (EUS-SVD) for the treatment of esophagogastric varices.Methods:A total of 43 cases of liver cirrhosis with esophageal and gastric varices at the First Affiliated Hospital of Anhui Medical University from February to December 2021 were included in a retrospective cohort study. The cases were divided into two treatment groups based on endoscopic treatment: EUS-SVD group ( n=22) and conventional endoscopic sclerosant injection group (conventional gastroscopy group, n=21). The doses of sclerosants and tissue glue, effective rate of esophageal varice treatment within 2 months after surgery, rebleeding rate within 3 months after surgery, and adverse reactions were compared. Results:The differences in terms of mean patient age, gender composition, etiology of liver cirrhosis, Child-Pugh classification of liver function, classification of esophageal varices, composition of endoscopic treatment indications, and mean maximum diameter of gastric varices were not statistically significant between the two groups ( P>0.05), indicating the comparability of baseline data. Perforating veins outside the gastric wall of gastric varices could be detected during the procedure in the EUS-SVD group, and disappearance of gastric varices after injection treatment could be determined, while these two indicators could not be detected in the conventional gastroscopy group. The amounts of sclerosing agents and tissue adhesives used in the EUS-SVD group were 7.54±3.10 mL and 1.30±0.57 mL, respectively, while the corresponding amounts in the conventional gastroscopy group were 7.57±3.50 mL ( t=0.026, P=0.980) and 1.38±0.67 mL ( t=-0.452, P=0.654), respectively. The effective treatment rate for esophageal varice within 2 months after surgery was 63.6% (14/22) in the EUS-SVD group and 52.4% (11/21) in the conventional gastroscopy group, but the difference was not statistically significant ( χ2=0.559, P=0.455). The rebleeding rate within 3 months after surgery was 4.5% (1/22) in the EUS-SVD group, significantly lower than the rate of 33.3% (7/21) in the conventional gastroscopy group ( P=0.021). Neither group experienced events of ectopic embolism or death. There was no statistically significant difference between the two groups in terms of postoperative pain, fever, nausea and vomiting, or rebleeding rate within 72 hours after surgery ( P>0.05). The incidence of gastric fundus ulcers was 9.1% (2/22) in the EUS-SVD group, significantly lower than the rate of 42.9% (9/21) in the conventional gastroscopy group ( χ2=6.435, P=0.011). Conclusion:EUS-SVD treatment for esophagogastric varices is safe and effective. It can clearly display the deep-seated intramural vessels of the gastric wall, measure the diameter of the blood vessels, accurately inject tissue glue, occlude the varicose veins and perforating vessels, and reduce the occurrence of postoperative ulcers and rebleeding.

Objective:To translate the Nurse Delirium Care Competency Scale (NDCCS) into Chinese and test the validity and reliability of Chinese version of NDCCS among ICU nurses.Methods:According to Brislin translation model, the Chinese version of NDCCS was developed by forward translation, back translation, cross-cultural adaptation and pre-survey. From October to December of 2023, 338 ICU nurses from Sir Run Run Shaw Hospital, Zhejiang University School of Medicine were selected by cross-sectional survey to test the reliability and validity of Chinese version of NDCCS.Results:A total of 329 valid questionnaires were collected. There were 50 males and 279 females, aged 20-53 years old. The Chinese version of NDCCS included 6 dimensions and 27 items. The scale-level content validity value was 0.985, and the item-level content validity value was 0.800-1.000. Exploratory factor analysis showed a six-factor structure, the cumulative variance contribution rate was 75.700%, the Cronbach′s α coefficients of the scale amount table were 0.952, and the Cronbach′s α coefficients of the dimensions were 0.811- 0.936,and the retest reliability was 0.932.Conclusions:The Chinese version of the NDCCS has good reliability and validity, and it is suitable for assessing the delirium care competence of ICU nurses in China.

Nursing information security is an essential component of providing high-quality nursing services and is an important guarantee for the construction of large-scale health care data application systems. This article reviewed the concept, assessment tools, and influencing factors of nursing information security, aiming to provide references for hospital nursing managers to effectively assess information security and improve nurses′ information literacy.

Cyclosporine A, a cyclic polypeptide, exhibits potent immunosuppressive activity and exerts its effects through various mechanisms including immunosuppression, anti-inflammatory, inhibition of apoptosis, promotion of epithelial healing and goblet cell function recovery, enhancement of tear secretion, and close association with ocular surface disease repair. Owing to its significant efficacy, inhibition of disease recurrence and few side effects, the clinical application of cyclosporine A in the management of ocular surface diseases, including dry eye, corneal graft rejection following penetrating keratoplasty, vernal keratoconjunctivitis, noninfective keratitis and herpes simplex virus keratitis, has witnessed a substantial rise in recent years. Nevertheless, variations exist in the management of ocular surface inflammatory diseases when utilizing distinct concentrations and dosage forms of cyclosporine A. Therefore, the paper provides an overview of impacts of cyclosporine A on ocular surface diseases.

Auditory neuropathy spectrum disorder (ANSD) represents a variety of sensorineural deafness conditions characterized by abnormal inner hair cells and/or auditory nerve function, but with the preservation of outer hair cell function. ANSD represents up to 15％ of individuals with hearing impairments. Through mutation screening, bioinformatic analysis and expression studies, we have previously identified several apoptosis-inducing factor (AIF) mitochondria-associated 1 (AIFM1) variants in ANSD families and in some other sporadic cases. Here, to elucidate the pathogenic mechanisms underlying each AIFM1 variant, we generated AIF-null cells using the clustered regularly interspersed short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9) system and constructed AIF-wild type (WT) and AIF-mutant (mut) (p.T260A, p.R422W, and p.R451Q) stable transfection cell lines. We then analyzed AIF structure, coenzyme-binding affinity, apoptosis, and other aspects. Results revealed that these variants resulted in impaired dimerization, compromising AIF function. The reduction reaction of AIF variants had proceeded slower than that of AIF-WT. The average levels of AIF dimerization in AIF variant cells were only 34.5％?49.7％ of that of AIF-WT cells, resulting in caspase-independent apoptosis. The average percentage of apoptotic cells in the variants was 12.3％?17.9％, which was significantly higher than that (6.9％?7.4％) in controls. However, nicotinamide adenine dinucleotide (NADH) treatment promoted the reduction of apoptosis by rescuing AIF dimerization in AIF variant cells. Our findings show that the impairment of AIF dimerization by AIFM1 variants causes apoptosis contributing to ANSD, and introduce NADH as a potential drug for ANSD treatment. Our results help elucidate the mechanisms of ANSD and may lead to the provision of novel therapies.

Objective:To investigate the factors affecting postoperative short-term improvement of consciousness level in patients with prolonged disorders of consciousness after severe traumatic brain injury (sTBI).Methods:A case-control study was conducted to analyze the clinical data of 55 patients with prolonged disorders of consciousness after sTBI admitted to Beijing Tiantan Hospital Affiliated to Capital Medical University and Seventh Medical Center of PLA General Hospital from September 2021 to September 2022. There were 33 males and 22 females, with the age range of 13-68 years [(43.0±15.5)years]. All patients were assessed for the consciousness level using the coma recovery scale-revision (CRS-R) preoperatively and within 48 hours postoperatively. A total of 33 patients were observed in vegetative state and 22 in minimally conscious state preoperatively. The consciousness level was found to be improved in 26 patients (consciousness- improved group), but not improved in the remaining 29 patients (consciousness-unimproved group). Indicators were documented including gender, age, cause of injury, Glasgow coma score (GCS) on admission, course of injury, preoperative consciousness level, operation mode, operation time, intraoperative fluid replenishment, intraoperative urine volume, intraoperative bleeding volume, American Society of Anesthesiologists grade, analgesic regimen and sedation maintenance drugs. A univariate analysis was conducted first to assess those indicators′ correlation with postoperative short-term improvement of consciousness level in patients with prolonged disorders of consciousness after sTBI. Multivariate Logistic regression analysis was then used to determine the independent risk factors for their postoperative short-term improvement of consciousness level.Results:Univariate analysis showed that GCS on admission, course of injury, preoperative consciousness level and analgesic regimen were correlated with short-term improvement of postoperative consciousness level in patients with prolonged disorders of consciousness after sTBI (all P<0.05), whereas gender, age, cause of injury, operation mode, operation time, intraoperative fluid replenishment, intraoperative urine volume, intraoperative bleeding volume, American Society of Anesthesiologists grade and sedation maintenance drugs showed no relation to the improvement of postoperative consciousness level (all P>0.05). Multivariate Logistic regression analysis showed that the GCS ≥7 points on admission ( OR=0.06, 95% CI 0.01, 0.36, P<0.01), preoperative minimally conscious state ( OR=0.09, 95% CI 0.02, 0.40, P<0.01) and intraoperative use of Sufentanil combined with Remifentanil ( OR=0.07, 95% CI 0.01, 0.43, P<0.01) were significantly correlated with postoperative improvement of consciousness level. Conclusion:The GCS on admission (≥7 points), preoperative minimally conscious state and intraoperative use of Sufentanil combined with Remifentanil are independent risk factors affecting short-term postoperative improvement of consciousness level in patients with prolonged disorders of consciousness after sTBI.