The clinical data, diagnose and treatment of a child with familial glucocorticoid deficiency (FGD) caused by the NNT gene mutation who was treated in the Department of Endocrinology, Children′s Hospital Affiliated to Nanjing Medical University in November 2014 were retrospectively analyzed.The female child with 1 year and 5 months old presented with 6 months of skin pigmentation.Laboratory examinations showed decreased cortisol and increased adrenocorticotropic hormone.During the follow-up period, she developed convulsions and precocious puberty.Whole exome sequencing revealed that the patient carried a homozygous mutation c. 1054G > A (p.G352R) in exon 8 of the NNT gene, which was a newly reported gene mutation.Domestic cases of FGD caused by the NNT gene mutation has never been reported yet.Through literature review of a total of 40 reported children with FGD caused by the NNT gene mutation, typical manifestations included skin pigmentation, hypoglycemia and seizures, alongside mineralocorticoid deficiency, precious puberty, abnormal male gonadal development, thyroid diseases and heart diseases.

Hepatolithiasis is a common and persistent disease in hepatobiliary surgery, which is one of the most important leading causes of death in patients with benign biliary tract diseases. Traditional of diagnosis and treatment options of hepatolithiasis have limitations, recently the rising of three-dimensional visualization technology provides doctors with fresh thinking and approaches. Three-dimensional visualization technology can accurately evaluate the anatomical structure and pathological condition of the liver, at the same time it plays an important role in guiding hepatectomy, choledochoscopic lithotripsy and biliary drainage. Three-dimensional printing and intraoperative navigation, which based on three-dimensional visualization technology, also has good application prospects. This paper summarized the application of three-dimensional visualization technology for the diagnosis and treatment of hepatolithiasis in order to help the future research.

The clinical data, diagnosis and treatment of a child with Robinow syndrome (RS) caused by the DVL1 gene mutation, who was treated in the Department of Endocrinology, Genetics and Metabolism, Children′s Hospital of Nanjing Medical University in May 2023, were retrospectively analyzed.The male child, 2 years old, presented with 2 years of external genital abnormality.The main clinical features included intrauterine growth retardation, external genital abnormalities, craniofacial anomalies, skeletal malformations and congenital heart diseases.Whole exome sequencing revealed that the patient carried a heterozygous mutation c. 1529delG(p.G510Vfs*139) in exon 14 of the DVL1 gene.Cases of the DVL1 gene mutation have not been documented in Chinese.A review of literature identified 25 (including the case in this report) cases of RS in children attributed to DVL1 gene mutations, revealing common clinical features such as craniofacial anomalies, skeletal malformations, external genital abnormalities, heart diseases, short stature, and hearing impairments.Cognitive abilities are typically unaffected, and reproductive function remains normal.Notably, 19 identified DVL1 gene mutations are clustered within a specific genomic region (c.1496-c.1631), with no discernible genotype-phenotype correlation observed.

Objective:To investigate the intention of medical students to be vaccinated against COVID-19 and to analyze the influencing factors.Methods:A self-filled electronic questionnaire survey was conducted among medical students from a medical school in Shanghai randomly selected from June 21 to 29, 2021. The questionnaire contained items of basic information, intention for COVID-19 vaccination, awareness of COVID-19 prevention measures and awareness of COVID-19 vaccine. Logistic regression was used to analyze the influencing factors.Results:The average age of the 966 respondents was (20.4±2.9) years, and 63.6% (614/966) of them were female;23.7% (229/966) of them had family members or relatives who had participated in anti-pandemic work or volunteer service;90.6% (875/966) of the respondents expressed they were very willing or willing to be vaccinated against COVID-19. The majority of the respondents thought that “COVID-19 infection is very serious” (94.3%, 911/966), “good protection can effectively prevent COVID-19 infection” (92.4%, 893/966), and “they can fully implement all kinds of protection measures” (73.5%, 710/966). About half of the respondents (51.8%, 501/966) knew about the adverse reactions and contraindications of COVID-19 vaccine. The low protected capability (47.4%, 458/966), short duration of protection (50.6%, 489/966), and many side effects (48.7%, 470/966) were the major concerns about COVID-19 vaccine. Logistic regression analysis showed that people thought that “COVID-19 infection is very serious” ( OR=5.30, 95 %CI:2.60-10.81, P<0.001), thought that “good protection can effectively prevent COVID-19 infection” ( OR=2.46, 95 %CI:1.26-4.81, P=0.009), thought that “they can fully implement all kinds of protection measures” ( OR=2.55, 95 %CI:1.53-4.25, P<0.001) were more willing to receive COVID-19 vaccination. While those concerned about vaccine quality did the opposite ( OR=0.29, 95 %CI:0.13-0.65, P=0.003). Conclusions:Medical students have a high intention of vaccination against COVID-19. The vaccine-related knowledge quality should be emphasized in future publicity to further enhance the intention of COVID-19 vaccination.

Objective To study the value of postmortem imaging on the diagnosis of intestinal perforation.Method Postmortem imaging(PMCT and PMCTA)data of 2 intestinal perforation deaths(and 4 controlled cases)were reviewed retrospectively.Diagnosing capacities of intestinal perforation by postmortem imaging method were further investigated.Results PMCT is sensitive in detecting the free air and liquid induced by intestinal perforation.PMCT can sometimes detect the gravity-dependent purulent secretions in the abdominopelvic cavity.PMCTA can visualize the extravasation of contrast agent from the perforation,which can be used to locate the accurate perforation region.Conclusion Postmortem imaging method(PMCT and PMCTA)is an important tool for the diagnosis of intestinal perforation,which can not only be used as a forensic diagnosis method,but is also useful to locate the perforation site before an forensic autopsy.

Objective:To explore the clinical value of the geriatric potentially inappropriate medication(PIM)evaluation system in elderly inpatients.Methods:As a prospective cohort study, 203 elderly inpatients with polypharmacy were randomly divided into the control group and experimental group.Geriatric PIM evaluation system(based on the criteria for judging potential inappropriate drug use in Chinese elderly 2017 edition)on wechat platform was applied to patients of experimental group.During the 6 months, the number of elderly syndromes, types of drugs, the days in hospitalization, readmission rates and all-cause mortality were compared between two groups.Results:The age of 203 elderly inpatients ranged from 60 to 94(77.30±10.34)years, including 121 males and 82 females.The morbidity proportion of top five diseases were 69.95%(142/203)in cerebral infarction(non-acute phase), 62.07%(126/203)in hypertension, 24.14%(49/203)in coronary heart disease, 9.85%(20/203)in atrial fibrillation, and 6.40%(13/203)in cardiac insufficiency.The 97.53%(198/203)of elderly hospitalized patients had at least one senile syndrome, the average was 4.3±2.0.Insomnia, fall and frailty accounted for 32.87%(15/198), 28.45%(56/198)and 13.66%(27/198)respectively.Compared with the control group, the average length of stay in hospital in the experimental group significantly decreased[(16.38±4.29) vs.(21.32±6.10)d, t=2.438、 P=0.025], the number of senile syndrome, the score of fall, weakness and the re-admission rate were also decreased significantly(3.11±2.14 vs.4.32±1.50, t=0.854、 P=0.032; 6.19±1.35 vs.8.61±3.22, t=4.078、 P=0.044; 3.94±1.92 vs.5.65±1.34, t=2.843、 P=0.038; 9.81%(10/102) vs.1.98%(2/101), χ2=4.772、 P=0.029), and the frequency of PIM was significantly different between two groups(417.36±49.21 vs.210.25±38.23, t=2.136、 P=0.034). Conclusions:After making the drug adjustment on the elderly inpatients with multiple drugs, PIM evaluation system for the elderly are able to reduce the incidence of geriatric syndrome, shorten the length of stay in hospital, improve the rational use of drugs, and enhance the quality of life of the elderly patients.

ObjectiveTo investigate the feasibility and safety of endoscopic retrograde cholangiopancreatography （ERCP） combined with oral cholangiopancreatography in the treatment of major duodenal papilla gallbladder polyps. MethodsA retrospective analysis was performed for the clinical data of eight patients with choledocholithiasis and gallbladder polyps who underwent ERCP and combined with oral cholangiopancreatography for major duodenal papilla cholecystectomy in Center of Digestive Endoscopy， Jilin People’s Hospital， from May 2022 to June 2024， and related data were collected， including the success rate of surgery， the technical success rate of gallbladder polyp removal， the superselective method of cystic duct， the time of operation， the time of gallbladder polyp removal， and surgical complications. ResultsBoth the success rate of surgery and the technical success rate of gallbladder polyp removal reached 100%， and of all eight patients， three patients used guide wire to enter the gallbladder under direct view， while five patients received oral cholangiopancreatography to directly enter the gallbladder. The time of operation was 51.88±12.34 minutes， and the time of gallbladder polyp removal was 23.13±10.94 minutes. The diameter of gallbladder polyp was 2‍ ‍—‍ ‍8 mm， and pathological examination showed inflammatory polyps in three patients， adenomatous polyps in one patient， and cholesterol polyps in four patients. There were no complications during or after surgery. The patients were followed up for 2‍ ‍—‍ ‍27 months after surgery， and no recurrence of gallbladder polyp was observed. ConclusionOral cholangiopancreatography is technically safe and feasible in endoscopic major duodenal papilla cholecystectomy.