Objective:To study the prognosis of congenital bile duct cysts following cyst resection, and to analyze the risk factors associated with the development of postoperative biliary calculus.Methods:Clinical data of 149 patients with congenital bile duct cysts undergoing surgery in the First Affiliated Hospital of Nanjing Medical University from May 2004 to January 2022 were retrospectively analyzed, including 59 males and 90 females, with a median age of 32 (21, 47) years old. Patients were divided into two groups: the stone group ( n=51, biliary calculus occurred during the follow-ups after surgery) and non-stone group ( n=98). Clinical data such as gender, age, medical history, cyst type, biliary calculus, anastomotic stenosis and occurrence of cancer were compared. All patients were followed up via telephone consultations. A logistic regression analysis was used to identify the risk factors associated with the occurrence of biliary calculus after surgery. Results:The duration of the follow-ups was 120 (24, 211) months. The observed incidence of postoperative biliary calculus, anastomotic stricture, and cancer in the patients were 34.2% (51/149), 8.7% (13/149), and 4.7% (7/149), respectively. The logistic regression analysis indicated that incomplete cyst resection ( OR=3.332, 95% CI: 1.221-9.094) and postoperative anastomotic stenosis ( OR=13.300, 95% CI: 2.586-68.401) were associated with a higher risk of biliary calculus formation after cystectomy (all P<0.05). Conclusion:Patients with congenital bile duct cysts suffer a high risk of biliary calculus formation after cystectomy. The residual cyst and postoperative anastomotic stenosis are independent risk factors for biliary calculus after surgery.

Objective:The paper seeks to explore the characteristics of myeloid tumors with genetic DDX41 gene mutations,especially focusing on the understanding and treatment of acute myeloid leukemia with germline/somatic DDX41 mutation. Methods:One AML patient with germline/somatic DDX41 mutation who was diagnosed by using morphology,immunology,cytogenetics and molecular biology in Shanghai Shidong Hospital was retrospectively analyzed,and the patient was treated with lenalidomide combined with decitabine,and the literatures were reviewed. Results:The patient obtained complete remission after the therapy and there were no relevant adverse reactions to the treatment. Conclusion:The DDX41 gene mutations have effects on the prognosis and treatment of myeloid malignancies,and lenalidomide combined with decitabine is effective in acute myeloid leukemia with germline/somatic DDX41 mutation.The germline mutation status should be identified and confirmed early.

Objective:To study the clinical application of a new classification on location of hepatolithiasis in guiding treatment using percutaneous transhepatic choledochoscopic lithotomy (PTCSL).Methods:The clinical data of 85 consecutive patients with preoperatively diagnosed hepatolithiasis who underwent PTCSL at the First Affiliated Hospital of Nanjing Medical University from January 2017 to July 2021 were prospectively collected. There were 27 males and 58 females, aged from 15 to 86(62±14) years. Hepatolithiasis was classified into five types of stone location based on preoperative imagings: type Ⅰ ( n=12) , stones located in central bile duct, including hilar bile duct and common hepatic duct; type Ⅱ ( n=17) in unilateral hepatic duct with multiple branches; type Ⅲ ( n=24) in unilateral hepatic duct with multiple branches plus central bile duct; type Ⅳ ( n=31) in bilateral hepatic ducts with multiple branches; and type Ⅴ ( n=1) in unilateral hepatic duct with a single branch. Fistulation path, number of procedures, number of bile duct fistula, and complications were recorded. The residual stone rate and stone recurrence rate were compared among the five types. The follow-up was performed to analyse prognosis. Results:A total of 99 biliary fistulae were performed, with one single tract created in 74 patients, two tracts in 9 patients, three tracts in 1 patient, and four tracts in 1 patient. The fistulation path was B2 in 12 patients, B3 in 18 patients, B4 in 1 patient, B5 in 4 patients, B6 in 10 patients, B7 in 4 patients, and B8 in 50 patients. Altogether, 151 choledochoscopic lithotomy procedures were performed (1-3 times per patient, mean 1.78 times). For the 9 patients with residual stones (10.6%, 9/85), there were 3 patients with type Ⅱ and 6 patients with type Ⅳ. There were significant differences in the residual stone rates among the 5 types (χ 2=11.13, P=0.025). Stone recurrence developed in 33 (38.8%) patients, including 2 patients with type Ⅰ, 7 patients with type Ⅱ, 10 patients with type Ⅲ and 14 patients with type Ⅳ (χ 2=9.07, P=0.046). The total intraoperative and postoperative complications rates was 28.2% (24/85). The follow-up period was 4-58 months with the median follow-up time of 30 months. Twelve patients died during the follow-up period, including 1 patient who died from postoperative bleeding, 3 cholangiocarcinoma, 7 biliary cirrhosis-related liver failure, and 1 stone-unrelated disease. Conclusion:Type Ⅳ in the location classification of hepatolithiasis based on PTCSL had significantly higher rates of residual stones and stone recurrence. This new classification is helpful for clinicaians to determine the optimal path using a smaller number of fistulation tracts to clear stones. It improved the efficacy of PTCSL in treating hepatolithiasis.

Objective:To investigate the efficacy and safety of a new China-made direct visualization system of peroral cholangiopancreatography in the diagnosis and treatment of biliopancreatic diseases.Methods:Clinical data of 37 patients who underwent endoscopic examination through the direct visualization system of peroral cholangiopancreatography at Digestive Endoscopy Center of Nanjing Drum Tower Hospital from April 2020 to June 2021 were retrospectively analyzed. Technical success rate and complications were analyzed.Results:The examination was completed in 37 patients through the system. The technical success rate was 100.0%. The nature of biliary stricture was confirmed in 24 cases, presenece or absence of bleeding or residual stones in the bile duct was confirmed in 6 cases, neoplasm or residual stones in the pancreatic duct was determined in 2 cases, biliary stricture was passed assisted with visualized guidewire in 2 cases, and lithotripsy was performed assisted with biliary laser in 3 cases. Nine patients were pathologically diagnosed as having malignant biliary stricture, and 8 of them were confirmed malignant by the system. Drainage was performed in 34 cases after the examination. There were 3 cases of cholangitis, 4 cases of bacteremia and 2 cases of postoperative pancreatitis after the operation, which were relieved in a short time after conservative treatment. Bleeding occurred in 1 case which was improved after two times of endoscopic hemostasis.Conclusion:The new direct visualization system of peroral cholangiopancreatography is safe and effective in the diagnosis and treatment of biliopancreatic diseases.

Genome-wide association studies (GWASs) are the most widely used method to identify genetic risk loci associated with orofacial clefts (OFC). However, despite the increasing size of cohort, GWASs are still insufficient to detect all the heritability, suggesting there are more associations under the current stringent statistical threshold. In this study, we obtained an integrated epigenomic dataset based on the chromatin conformation of a human oral epithelial cell line (HIOEC) using RNA-seq, ATAC-seq, H3K27ac ChIP-seq, and DLO Hi-C. Presumably, this epigenomic dataset could reveal the missing functional variants located in the oral epithelial cell active enhancers/promoters along with their risk target genes, despite relatively less-stringent statistical association with OFC. Taken a non-syndromic cleft palate only (NSCPO) GWAS data of the Chinese Han population as an example, 3664 SNPs that cannot reach the strict significance threshold were subjected to this functional identification pipeline. In total, 254 potential risk SNPs residing in active cis-regulatory elements interacting with 1 718 promoters of oral epithelium-expressed genes were screened. Gapped k-mer machine learning based on enhancers interacting with epithelium-expressed genes along with in vivo and in vitro reporter assays were employed as functional validation. Among all the potential SNPs, we chose and confirmed that the risk alleles of rs560789 and rs174570 reduced the epithelial-specific enhancer activity by preventing the binding of transcription factors related to epithelial development. In summary, we established chromatin conformation datasets of human oral epithelial cells and provided a framework for testing and understanding how regulatory variants impart risk for clefts.
Chromatin ; Cleft Lip/genetics* ; Cleft Palate/genetics* ; Epithelium ; Genome-Wide Association Study ; Humans

Objective:To explore the new generation of intelligent ICU Unit based on 5G and artificial intelligence technology.Methods:This study was conducted at the Second Affiliated Hospital, Zhejiang University School of Medicine from May 2019 to August 2020. Based on a multidisciplinary team including medical, nursing, hospital management, clinical medical engineering, 5G technology, information technology, artificial intelligence technology, logistics service, etc, was assembled to intelligently design and reconstruct an intelligent ICU Unit of Emergency ICU.Results:Based on 5G technology, a new intelligent ICU unit environment was constructed to realize remote and high-speed interaction of multi-dimensional information in ICU, including intelligent assistance of remote monitoring, remote ward rounds, remote consultation and family visits. An intelligent hospital infection prevention and control system was established including automatic identification and alarm of hand hygiene and personal protection.Conclusions:The new generation of intelligent ICU unit combined with 5G and artificial intelligence technology has changed the mode of medical service for critically ill patients and improved the service level, which is worthy of further exploration and application.

Objective:To analyze the social family factors influencing language delay in children with the age ranging from 18 to 42 months in Xiamen.Methods:A prospective cohort study was conducted to evaluate children with language delay (case group) and normal controls (control group) in Child Health Clinic and Developmental Behavior Clinic of the First Affiliated Hospital of Xiamen University between July 2017 and July 2019 via a self-made questionnaire and a language development scale, and the case-control ratio was 1∶4.The chi- square test, Logistic regression and generalized multifactor dimensionality reduction (GMDR) were adopted for statistical analysis, and the correction analysis was performed with Bonferroni correction. Results:A total of 126 children with language delay were collected in the case group, with the ratio of male to female being 2.05∶1.00. The control group was included 504 cases.There was no significant difference in gender and age between both groups.The chi- square test showed that there were statistical differences in maternal culture and screen time distribution between both groups ( P<0.05/13). Besides, the multivariate Logistic regression analysis suggested that significant risk factors for language delay in children included maternal culture, maternal-child interaction, and screen time.The GMDR analysis showed that screen time was the optimal single-mode for children at risk of language delay, while maternal culture and screen time constituted a statistically different two-factor model.Moreover, the marital-child interaction was included into the three-factor model. Conclusions:Screen time and maternal culture were the most important risk factors for language delay in children of Xiamen, and both factors would interact with maternal-child interaction, which could exert impacts on language delay in children.

Objective:To evaluate the application value of small IT knife pre-cut in assistance to duodenal papillary cannulation compared with conventional guidewire cannulation.Methods:A retrospective analysis was performed on the data of 90 patients with choledocholithiasis including 52 patients with small IT knife pre-cut assisted intubation (small IT knife group) and 38 patients with conventional guidewire intubation (conventional group) in endoscopic retrograde cholangiopancreatography (ERCP) from May 2016 to July 2019 in the digestive endoscopy center of Nanjing Drum Tower Hospital. The basic data, curative effect and complications of the two groups were collected and compared.Results:There was statistically significant difference in gender composition between the small IT knife group and the conventional group ( χ2=5.679, P=0.017), but no significant difference in other baseline data between the two groups (all P>0.05). The median intubation time of the small IT knife group was significantly shorter than that of the conventional group (141.5 s VS 270.0 s, Z=1 268.0, P=0.022). There were no significant differences in the success rate of intubation [98.1% (51/52) VS 94.7% (36/38), χ2=0.760, P=0.571], the incidence of intraoperative bleeding [15.4% (8/52) VS 7.9% (3/38), χ2=1.148, P=0.345], postoperative pancreatitis [5.8% (3/52) VS 7.9% (3/38), χ2=0.159, P=0.694], and postoperative cholangitis [1.9% (1/52) VS 5.3% (2/38), χ2=0.760, P=0.571] between the two groups. No perforation occurred in the two groups. After stratifying according to the operator′s proficiency, the median intubation time was significantly different between the small IT knife expert group and the conventional expert group (116.0 s VS 258.0 s, Z=276.0, P=0.038), while there was no significant difference in the intubation time among other groups (all P>0.05). Conclusion:The small IT knife is safe and effective to pre-cut and assist intubation in ERCP, and it may shorten the intubation time.

OBJECTIVE: To evaluate the effects of different postoperative analgesic strategies on neurocognitive function and quality of recovery in elderly patients at 7 days after thoracic surgery with one lung ventilation. METHODS: Ninety elderly patients undergoing video-assisted thoracic surgery were randomized into 3 groups ( RESULTS: The patients in TA and EA groups had significantly higher MMSE scores and lower incidence of postoperative neurocognitive dysfunction (PNCD) than those in GA group without significant difference between the former two groups. At 7 days after the surgery, serum levels of S100-β and MMP-9 were significantly higher in GA group than in TA and EA group, and did not differ significantly between the latter two groups. QoR-40 scores were significantly higher in TA and EA groups than in GA group, and were higher in TA group than in EA group. The chest intubation time and length of hospital stay were significantly shorter in TA and EA groups than in GA group. CONCLUSIONS In elderly patients undergoing surgeries with one lung ventilation, general anesthesia combined with either postoperative continuous thoracic paravertebral block or epidural analgesia can significantly improve postoperative neurocognitive function and quality of recovery, but continuous thoracic paravertebral block analgesia can be more advantageous for improving postoperative quality of recovery.
Aged ; Analgesia, Epidural ; Analgesics ; Humans ; Nerve Block ; One-Lung Ventilation ; Pain, Postoperative

Objective:To explore the clinical characteristics and gene variation of primary coenzyme Q10 deficiency-7 (COQ10D7) in children.Methods:Clinical data and genetic tests results of a COQ10D7 child caused by coenzyme Q4 (COQ4) gene variation at the First Affiliated Hospital of Xiamen University in March 2020 were collected and analyzed. A literature search with "primary coenzyme Q10 deficiency" or "COQ4 gene" as the keyword was conducted at Wanfang database, China national knowledge infrastructure(CNKI), PubMed, online Mendelian inheritance in man(OMIM), ClinVar database (up to April 2020), the clinical characteristics and gene variation of children with primary COQ10D7 were summarized.Results:A 5-month-old boy was diagnosed as "epilepsy" because of intermittent epileptic seizures in three months. He had feeding difficulties, growth retardation, hypotonia of limbs and increased lactic acid. His whole exon gene testing suggested a homozygous variation of COQ4 gene (c.370G>A). One article in Chinese and 9 articles in English were found, which made up the complete case data of 33 patients (including our case). There were 12 missense variations, 2 frameshift variations, 1 splicing variation, 1 nonsense variation and 1 deletion variation, among these variations c. 370G>A was found only in children in southern China.The age of onset was mostly in the neonatal period (22 cases). Among all patients, 20 cases had presented neonatal respiratory distress or respiratory insufficiency, 21 cases had seizures, 20 cases had hypertrophic cardiomyopathy, and 26 cases had elevated serum lactic acid or lactic acidosis. Brain dysplasia, brain atrophy, basal ganglia and other lesions were observed on brain magnetic resonance imaging in 28 cases. Most of them had a poor prognosis with a mortality rate of 20/33. The age of death ranged from 4 hours to 42 months old.Conclusions:The main clinical phenotypes of primary COQ10D7 are neonatal respiratory distress or respiratory insufficiency, epilepsy, myocardial hypertrophy and lactic acid elevation. Primary COQ10D7 is caused by homozygous or compound heterozygous variation in the COQ4 gene, and c.370G>A may be the hotspot variation in children in southern China.