Objective To investigate the epidemiological characteristics and risk factors of non-alcoholic fatty liver disease in Jincheng between 2015 and 2020. Methods Clinical data of 8,578 medical check-ups at Physical Examination Center of ou hospital from January 2015 to December 2020 were retrospectively selected. The prevalence of non-alcoholic fatty liver disease in the last 5 years was recorded, and Logistic regression was utilized to identify the risk factors for the development of non-alcoholic fatty liver disease. Results The overall prevalence of non-alcoholic fatty liver disease in Jincheng was 14.57% in 2015-2020. The prevalence of non-alcoholic fatty liver disease was higher in men than in women (16.99% vs 10.98%) and highest in the 40-59 age group (18.76%). No statistical difference was reported in blood urea nitrogen (BUN) and serum creatinine (Scr) between groups (P>0.05), while statistical difference was found in diabetes, hypertension, body mass index (BMI), waist circumference, weekly exercise frequency, daily vegetable intake, triglycerides (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), alanine aminotransferase (ALT) and uric acid (UA) between two groups (P<0.05). Multivariate Logistic regression analysis denoted that BMI (OR=2.794, 95% CI: 1.745-4.550), waist circumference (OR=2.586, 95% CI: 1.585-4.299), diabetes (OR=0.644, 95% CI: 1.425-2.781), hypertension (OR=1.479, 95% CI: 1.121-2.290), weekly exercise ≥6h (OR=0.617, 95% CI: 0.519-0.709), daily vegetable intake ≥300g (OR=0.590, 95% CI: 0.467-0.652), TG (OR=1.481, 95% CI: 1.122-1.996), TC (OR=1.562, 95% CI:1.143-2.135), LDL-C (OR=1.440, 95% CI: 1.139-2.048), HDL-C (OR=0.656 , 95% CI: 0.587-0.783) , ALT (OR=1.591, 95% CI: 1.056-2.183), and UA (OR=1.412, 95% CI: 1.009-1.887) were risk factors for non-alcoholic fatty liver disease (P<0.05) . Conclusion The prevalence of non-alcoholic fatty liver disease in Jincheng City from 2015 to 2020 is 14.57%, the prevalence of males is higher than that of females, and the prevalence rate is the highest in the 40-59 age group. Moreover , diabetes mellitus , hypertension , BMI , waist circumference , weekly exercise , daily vegetable intake , serum TG, TC, LDL-C, HDL-C, ALT, and UA are all associated with the risk of the disease.

Keratoconus(KC)is a blinding eye disease caused by a variety of factors, with its pathogenesis still not well understood. In recent years, it has been discovered that sex hormones and prolactin-induced protein(PIP)have a profound impact on the cornea, with more noticeable changes when there are abnormalities in their body content. It has been found that various sex hormone receptors are distributed in the cornea. Based on this, this article reviews a multitude of studies on how sex hormones and PIP affect the cornea, along with relevant clinical research. It has been observed that sex hormones and PIP also play a role in KC patients and influence the occurrence and progression of KC. Additionally, it has been noted that pregnant and lactating women may be more susceptible to KC. Sex hormones and PIP have the potential to become new diagnostic and therapeutic targets. This article not only provides new insights but also offers important references for clinical practice.

Keratoconus(KC)is a blinding eye disease caused by a variety of factors, with its pathogenesis still not well understood. In recent years, it has been discovered that sex hormones and prolactin-induced protein(PIP)have a profound impact on the cornea, with more noticeable changes when there are abnormalities in their body content. It has been found that various sex hormone receptors are distributed in the cornea. Based on this, this article reviews a multitude of studies on how sex hormones and PIP affect the cornea, along with relevant clinical research. It has been observed that sex hormones and PIP also play a role in KC patients and influence the occurrence and progression of KC. Additionally, it has been noted that pregnant and lactating women may be more susceptible to KC. Sex hormones and PIP have the potential to become new diagnostic and therapeutic targets. This article not only provides new insights but also offers important references for clinical practice.

Here, we report a previously unrecognized syndromic neurodevelopmental disorder associated with biallelic loss-of-function variants in the RBM42 gene. The patient is a 2-year-old female with severe central nervous system (CNS) abnormalities, hypotonia, hearing loss, congenital heart defects, and dysmorphic facial features. Familial whole-exome sequencing (WES) reveals that the patient has two compound heterozygous variants, c.304C>T (p.R102*) and c.1312G>A (p.A438T), in the RBM42 gene which encodes an integral component of splicing complex in the RNA-binding motif protein family. The p.A438T variant is in the RRM domain which impairs RBM42 protein stability in vivo. Additionally, p.A438T disrupts the interaction of RBM42 with hnRNP K, which is the causative gene for Au-Kline syndrome with overlapping disease characteristics seen in the index patient. The human R102* or A438T mutant protein failed to fully rescue the growth defects of RBM42 ortholog knockout ΔFgRbp1 in Fusarium while it was rescued by the wild-type (WT) human RBM42. A mouse model carrying Rbm42 compound heterozygous variants, c.280C>T (p.Q94*) and c.1306_1308delinsACA (p.A436T), demonstrated gross fetal developmental defects and most of the double mutant animals died by E13.5. RNA-seq data confirmed that Rbm42 was involved in neurological and myocardial functions with an essential role in alternative splicing (AS). Overall, we present clinical, genetic, and functional data to demonstrate that defects in RBM42 constitute the underlying etiology of a new neurodevelopmental disease which links the dysregulation of global AS to abnormal embryonic development.
Female ; Animals ; Mice ; Humans ; Child, Preschool ; Intellectual Disability/genetics* ; Heart Defects, Congenital/genetics* ; Facies ; Cleft Palate ; Muscle Hypotonia

Objective:To investigate the value of pulse oxygen saturation (SpO 2) monitoring in predicting children with moderate-to-severe obstructive sleep apnea (OSA). Methods:It was a retrospective study involving 341 children with snoring during nighttime sleep who had visited the Children′s Hospital of Soochow University from June 2017 to November 2020 and monitored for polysomnography (PSG) and SpO 2.The SpO 2 parameters mainly included oxygen desaturation index (ODI), oxygen desaturation index ≥3% (ODI3), oxygen desaturation index ≥4% (ODI4), mean pulse blood oxygen saturation (MSpO 2), lowest pulse blood oxygen saturation (LSpO 2), cumulative time spent with blood oxygen saturation below 95%, 92% and 90%(T95, T92 and T90). According to obstructive sleep apnea hypopnea index (OAHI), patients were divided into the snoring and mild OSA group (OAHI≤5 times/h) and moderate-to-severe OSA group (OAHI>5 times/h). Differences in SpO 2 parameters were compared between groups using the Chi- square test and Mann- Whitney U test. Spearman correlation analysis was used to analyze the correlation between SpO 2 parameters and OAHI in all children.The SpO 2 parameters were included in the Logistic regression model.Receiver operating characteristic (ROC) curve was used to analyze the diagnostic efficiency of SpO 2 parameters on moderate-to-severe OSA. Results:A total of 341 patients were recruited, including 206 male and 135 female patients with the mean age, body mass index (BMI) and OAHI of 6.0 (4.0, 7.5) years, 16.2 (15.1, 18.0) kg/m 2 and 0.6 (0.1, 3.0) times /h, respectively.There were 283(83.0%) and 58 (17.0%) patients in the snoring and mild OSA group and moderate-to-severe OSA group.The ODI3[0.7 (0.3, 1.4) times/h vs.7.7 (4.4, 12.8) times/h], ODI4[0.4 (0.1, 0.8) times/h vs.5.3 (2.7, 9.1) times/h], T95[1.4 (0.3, 5.3) min vs.13.7 (7.0, 33.5) min], T92[0.1 (0, 0.5) min vs.1.8 (0.9, 6.0) min] and T90[0 (0, 0.1) min vs.0.6 (0.2, 2.2) min] were significantly lower in the snoring and mild OSA group than those of moderate-to-severe group, while LSpO 2[91.0 (89.0, 93.0)% vs.86.5 (82.0, 88.0)%] and MSpO 2[ 97.0 (97.0, 98.0)% vs.96.0 (96.0, 97.0)%] were significantly higher(all P<0.001). All SpO 2 parameters were significantly correlated with OAHI (all P<0.001), and the correlation coefficient between ODI3 and OAHI was 0.660.ODI3 was an independent predictor of moderate-to-severe OSA ( OR=3.117, 95% CI: 1.635-5.945, P=0.001). The area under the ROC curve of ODI3 in predicting the moderate-to-severe OSA was 0.957, and the cut-off value of 3.45 times/h and specificity of 95.4%.MSpO 2 was an independent predictor of moderate-to-severe OSA ( OR=2.917, 95% CI: 1.589-5.354, P=0.001). Conclusions:ODI3 can be used to predict the moderate-to-severe OSA in children.

Objective:To understand the identification value of pointing gestures in children with autism spectrum disorder(ASD) and its relationship with functional development.Methods:From December 2020 to November 2021, 1 099 children from Children’s Health Care Center of Beijing Children’s Hospital were tested by pointing gestures test, including 942 ASD children and 157 typical developed children.And the data of children's neuropsychological development scale from 800 children aged 1.0-5.9 were collected.SPSS 20.0 was used for statistical analysis. Trend test was used to analyze the distribution of pointing gestures test sensitivity in autistic children, and ANOVA was used to analyze the relationship between pointing gestures test scores and functional development fields.Results:The sensitivity of pointing gestures was 83.5% in children aged 1.0-10.0 years, 76.3%-93.1% in children aged 1.0-4.9 years, and 93.1%-95.1% in children aged 1.0-2.9.With the increase of age, the sensitivity of pointing gestures in autistic children (linear-by-linear association =164.889, P<0.001) and the Yoden index had a decreasing trend. The positive predictive value (91.53%-100.00%) and negative predictive value (75.36%-91.84%) were found in the children aged 1.0-10.0 years.The sensitivity of pointing gestures test was 44.9% in children with mild autism aged 1.0-10.0 years and 46.5%-65.9% in children with mild autism aged from 1.0-3.9 years. The sensitivity of pointing gestures test was 81.5% in children with moderate autism aged from 1.0-10.0 years and 87.3%-97.8% in children with moderate autism aged 1.0-3.9 years. The sensitivity of the pointing gestures test was 97.2% in children with severe autism aged 1.0-10.0 years, and 100.0% in children with severe autism aged 1.0-3.9 years. The sensitivity of the pointing gestures in mild, moderate and severe autism children decreased with age (linear-by-linear association values were 16.725, 64.232, 66.732 respectively, all P<0.001). The children with severe autism mainly scored 2 points (80.3%, 419/522) on the pointing gestures test , and children with moderate autism mainly scored 1 point(64.2%, 170/265) on the pointing gestures test. There were significant differences in functional development among different pointing gestures test groups.Functional development score in the autism children with 0 score of pointing gestures test was significantly higher than those with 1 score and 2 scores of pointing gestures test (all P<0.05). Conclusion:Pointing gestures has good sensitivity in children with autism (especially 1.0-4.9 years of age), and may serve as an objectively observable screening method. The better children with autism score on the pointing gestures, the better their functional development.

OBJECTIVE To investigate the pharmacokinetics and bioavailability of naproxen choline ionic liquid in rats after intragastric administration. METHODS Naproxen choline ionic liquid was given to rats by intragastric administration. Blood samples were collected at different time points after administration. The blood samples were precipitated by methanol and then centrifuged, and then an Extend-C18 column(4.6 mm×250 mm, 5 μm) was used. Methanol(A)-0.3% phosphoric acid aqueous solution(B) (74:26) was used as the mobile phase, the flow rate was 0.8 mL·min-1, and the detection wavelength was 230 nm. Indomethacin and naproxen were used as internal standard and tested object in determination of naproxen choline ionic liquid in rat plasma. Pharmacokinetic parameters were calculated using DAS 2.0 software. RESULTS After intragastric administration of naproxen suspension to rats, its t1/2α was 5.12 h, t1/2β was 10.13 h, Tmaxwas 2 h, Cmax was 112.92 mg·L-1, and AUC(0-t) was 1 091.01 mg·L-1·h. After intragastric administration of naproxen choline, its t1/2α was 5.64 h, t1/2β was 69.32 h, Tmax was 1 h, Cmax was 135.97 mg·L-1, AUC(0-t) was 1 305.79 mg·L-1·h, and the relative bioavailability was 119.686%. CONCLUSION After intragastric administration of naproxen choline to rats, the peak concentration and bioavailability of the naproxen in vivo are higher than those of the common suspension, and the peak time is earlier.

Endoscopy ; Hernia, Ventral/surgery* ; Herniorrhaphy ; Humans ; Laparoscopy ; Postoperative Complications ; Surgical Mesh

To analyze the endoscopic ultrasonography (EUS) and histopathological features of esophageal epithelial malignant tumors misdiagnosed as esophageal submucosal tumors (SMT), data of patients diagnosed as having esophageal SMT preoperatively but confirmed as esophageal epithelial malignant tumor by pathology after operation in Nanjing Drum Tower Hospital from January 2012 to December 2020 were retrospectively analyzed, and the clinical data including age, gender, size and location of the lesion, origin and echo of the lesion under EUS, endoscopic treatment and postoperative pathology were recorded. Among the 11 patients, there were 9 males and 2 females, aged (65.5±6.2) years. The length diameter of 9 lesions was ≤2 cm, and 8 lesions were located in the middle thoracic esophagus. Among the 11 patients, 10 underwent EUS before operation. The lesions originated from submucosa in 6 cases, muscularis propria in 2 cases and muscularis mucosa in 2 cases. The echo of the lesions was hypoechoic in 9 cases and isoechoic in only 1 case. Of the 11 patients, 3 underwent endoscopic mucosal resection, 6 underwent endoscopic submucosal dissection, and 2 underwent submucosal tunneling endoscopic resection. The histopathological types included 3 cases of moderately to poorly differentiated squamous cell carcinoma, 3 cases of basaloid squamous cell carcinoma, 2 cases of adenoid cystic carcinoma (including 1 case of adenoid cystic carcinoma colliding with squamous cell carcinoma), 2 cases of adenocarcinoma, and 1 case of esophageal sarcomatoid carcinoma with basaloid squamous cell carcinoma. Endoscopic manifestations of submucosal eminence in esophageal epithelial malignant tumors are extremely rare. EUS is helpful for differential diagnosis, and diagnostic treatment can make a definite diagnosis.

Clinical data of 26 patients with proton pump inhibitor dependent gastroesophageal reflux disease (GERD) who underwent anti-reflux mucosectomy (ARMS) in Nanjing Drum Tower Hospital from July 2017 to December 2020 were reviewed, and the GERD questionnaire (GERD-Q) score, the short-form reflux-qual (RQS) score, esophageal motility and 24 h esophageal pH parameters before and after ARMS were compared. With a median follow-up period of 18.4 months (6-27 months), 23 (88.5%) patients reported symptomatic improvement and 15 (57.7%) patients discontinued the use of proton pump inhibitors. After ARMS, the mean scores of GERD-Q (6.23 VS 13.19, P=0.004) and RQS (26.67 VS 10.98, P<0.001) were significantly improved, the mean DeMeester score (10.69 VS 53.15, P<0.001), the mean acid exposure time percentage (3.56% VS 9.92%, P<0.001) and the mean number of acid reflux episodes (36.9 VS 139.9, P=0.001) were lower, and the mean rest pressure at lower esophageal sphincter (LES) (25.19 mmHg VS 13.63 mmHg, P<0.001) and the mean distal contractile integral (1 819.15 mmHg·s·cm VS 1 007.67 mmHg·s·cm, P<0.001) were significantly increased compared with those before surgery. ARMS has significant short-term efficacy in the treatment of proton pump inhibitor dependent GERD, which can effectively improve reflux symptoms and life quality of patients, and strengthen the rest pressure of LES and peristalsis of the esophageal body.