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 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.

OBJECTIVES: Accurate breast lesion surface localization can guarantee accurate biopsy and local treatment. But there is no guideline to regular equipment and methods for the localization of breast lesions. The conventional non-invasive localization method is marker-based localization. The advantages of this method are simple and efficient. The disadvantages are that markers disappear easily under coupling agents; the positioning length of markers cannot last long on skin; and healthcare associated infection due to many patients using the same marker pen is potentially unavoidable. Breast lesion sticker (called sticker for short) is a new-type localization medical instrument in 2020. Our study aims to explore the clinical value of a new lesion stickers in breast lesion surface localization via comparison of the sticker and marker pen localization methods. METHODS: This was a prospective cohort study. It was conducted in 67 patients who needed breast lesion surface localization before biopsy. The patients were randomly assigned into 2 groups. One group of patients used marker pen to mark breast lesion surface location by ultrasonography. The other group of patients used stickers. Patients labeled with markers on skin were swabbed agents before marking. Then the markers were checked by ultrasound scan. If the surface positions of breast lesion were not correct, the above procedure was repeated. In the sticker group, the stickers were released synchronously after the lesions were detected by ultrasound scan. Then locations were checked via scanning hole. If the surface positions of breast lesion were not correct, the above procedure was repeated. The accuracy of positioning, the length of positioning time and satisfaction of patients between the 2 groups were compared. The length of positioning time was calculated from the time when ultrasound detected the lesion to the time when the surface position of breast lesion was confirmed. The total score of patients' satisfaction was 5 points according to Service Quality Evaluation of SERVQUAL Scale, including sonographers' service attitude and their technical proficiency, other medical staffs' service attitude and their technical proficiency, hospital service procedures, positioning comfort, and positioning effects. RESULTS: All 67 patients were females, aged 18-66 (39.73±13.10). There were 35 patients in the marker pen group and 32 patients in the sticker group. The time length of group used marker pen to localization was 22-88 (52.20±2.90) s, and the sticker group was 3-15 (9.22±0.58) s in length. The length of positioning time for the stickers was significantly shorter than that of the marker (P<0.01). Both methods were accurate in the surface localization of lesions before operation. The total scores of patients' satisfaction was 4-5 (4.92±0.02) in the stickers group, and 1-5 (3.35±0.10) in the marker pen group. The patients' satisfaction scores with the sticker were significantly higher than those with the marker pen (P<0.01). The length of positioning time and patients' satisfication scores for sonographer with 20 years' working experience were shorter and higher than those of sonographer with 10 years' working experience, respectively (both P<0.05). CONCLUSIONS The new breast lesion positioning stickers have more advantages than the marker pen in localization efficiency. It could reduce the workload of medical workers and increase patients' satisfaction to some extent. The stickers can be used not only in the breast lesions surface localization, but also in the skin location of pleural effusion and ascites, the skin location of surface masses, the skin location of thyroid nodule, and many other clinical marker areas, to further expand the scope of clinical application and value of the stickers.
Breast/diagnostic imaging* ; Breast Neoplasms/diagnostic imaging* ; Female ; Humans ; Male ; Prospective Studies ; Skin

Objective:To establish the normal values of water-perfused high resolution esophageal manometry (HREM)(GAP-36A) at resting period, water swallowing, semisolid swallowing and solid swallowing in Chinese population.Methods:From September 1, 2019 to June 30, 2020, 91 healthy volunteers receiving water-perfused HREM (GAP-36A) at resting period, water swallowing, semisolid swallowing and solid swallowing were selected from 9 hospitals (Union Hospital, Tongji Medical College, Huazhong University of Science and Technology; the First Affiliated Hospital of Dalian Medical University; the Second Hospital of Hebei Medical University; the Second Affiliated Hospital, Naval Medical University; the First Affiliated Hospital, Sun Yat-sen University; the First Affiliated Hospital, University of Science and Technology of China; Aviation General Hospital of China Medical University; the Affiliated Hospital of Medical School of Nanjing University and the First People′s Hospital of Yichang). Parameters included the position of the upper and lower edges of the upper esophageal sphincter (UES) and lower esophageal sphincter (LES), the length of the LES and UES, the position of the pressure inversion point (PIP), the resting pressure of UES and LES and swallow-related parameters such as the distal contraction integral (DCI), 4 s integrated relaxation pressure (IRP), distal latency (DL) and UES residual pressure. One-way analysis of variance, post-hoc test and sum rank test were used for statistical analysis.Results:A total of 87 healthy volunteers were enrolled, including 40 males and 47 females, aged (38.5±14.2) years old (ranged from 19 to 65 years old). The position of the upper and lower edges of the LES was (42.7±2.8) and (45.6±2.8) cm, respectively, the length of the LES was (2.9±0.4) cm, and the position of PIP was (43.3±2.8) cm. The position of the upper and lower edges of the UES was (18.1±3.0) and (22.6±2.0) cm, respectively, and the length of the UES was (4.8±1.0) cm. The resting pressure of LES and UES was (17.4±10.7) and (84.1±61.1) mmHg (1 mmHg=0.133 kPa), respectively. The DCI value at solid swallowing was higher than those at water swallowing and semisolid swallowing ((2 512.4±1 448.0) mmHg·s·cm vs. (2 183.2±1 441.2) and (2 150.8±1 244.8) mmHg·s·cm), and the differences were statistically significant ( t=-4.30 and -3.74, both P<0.001). The values of 4 s IRP at semisolid swallowing and solid swallowing were lower than that at water swallowing ((4.6±4.1) and (4.9±3.9) mmHg vs. (5.4±3.9) mmHg), and the differences were statistically significant ( t=3.38 and 2.09, P=0.001 and 0.037). The DL at water swallowing was shorter than those at semisolid swallowing and solid swallowing ((8.5±1.8) s vs. (9.8±2.2) and (10.6±2.8) s), and the DL at semisolid swallowing was shorter than that at solid swallowing, and the differences were statistically significant ( t=-10.21, -13.91 and -4.68, all P<0.001). The UES residual pressure at water swallowing was higher than those at semisolid swallowing and solid swallowing (9.5 mmHg, 6.5 to 12.3 mmHg vs. 8.0 mmHg, 4.5 to 11.7 mmHg and 5.5 mmHg, 2.0 to 9.3 mmHg), and the UES residual pressure at semisolid swallowing was higher than that at solid swallowing, and the differences were statistically significant ( t=3.48, 10.30 and 6.35, all P<0.001). Conclusions:The normal values of water-perfused HREM (GAP-36A) in Chinese population at resting period, water swallowing, semisolid swallowing and solid swallowing can provide a reference basis for clinical diagnosis and treatment for patients receiving water-perfused HREM examination.

Background: and Purpose Recent studies suggested an increased incidence of cerebral venous thrombosis (CVT) during the coronavirus disease 2019 (COVID-19) pandemic. We evaluated the volume of CVT hospitalization and in-hospital mortality during the 1st year of the COVID-19 pandemic compared to the preceding year. Methods: We conducted a cross-sectional retrospective study of 171 stroke centers from 49 countries. We recorded COVID-19 admission volumes, CVT hospitalization, and CVT in-hospital mortality from January 1, 2019, to May 31, 2021. CVT diagnoses were identified by International Classification of Disease-10 (ICD-10) codes or stroke databases. We additionally sought to compare the same metrics in the first 5 months of 2021 compared to the corresponding months in 2019 and 2020 (ClinicalTrials.gov Identifier: NCT04934020). Results: There were 2,313 CVT admissions across the 1-year pre-pandemic (2019) and pandemic year (2020); no differences in CVT volume or CVT mortality were observed. During the first 5 months of 2021, there was an increase in CVT volumes compared to 2019 (27.5%; 95% confidence interval [CI], 24.2 to 32.0; P<0.0001) and 2020 (41.4%; 95% CI, 37.0 to 46.0; P<0.0001). A COVID-19 diagnosis was present in 7.6% (132/1,738) of CVT hospitalizations. CVT was present in 0.04% (103/292,080) of COVID-19 hospitalizations. During the first pandemic year, CVT mortality was higher in patients who were COVID positive compared to COVID negative patients (8/53 [15.0%] vs. 41/910 [4.5%], P=0.004). There was an increase in CVT mortality during the first 5 months of pandemic years 2020 and 2021 compared to the first 5 months of the pre-pandemic year 2019 (2019 vs. 2020: 2.26% vs. 4.74%, P=0.05; 2019 vs. 2021: 2.26% vs. 4.99%, P=0.03). In the first 5 months of 2021, there were 26 cases of vaccine-induced immune thrombotic thrombocytopenia (VITT), resulting in six deaths. Conclusions During the 1st year of the COVID-19 pandemic, CVT hospitalization volume and CVT in-hospital mortality did not change compared to the prior year. COVID-19 diagnosis was associated with higher CVT in-hospital mortality. During the first 5 months of 2021, there was an increase in CVT hospitalization volume and increase in CVT-related mortality, partially attributable to VITT.

Objective:To evaluate the effectiveness of mentorship-Leichester assessment package (LAP) model in general practice teaching.Methods:Sixty five-year Traditional Chinese Medicine (TCM) students undergoing general medicine internship from July 2020 to December 2020 were divided into study group and control group with 30 students in each group. Students in study group undertook general practice internship in Fangzhuang Community Health Service Center with the mentorship-LAP model, including group-based teaching, weekly LAP case discussion and mentor-intern individualized LAP clinical practice teaching; students in control group undertook general practice internship in other community teaching bases with the traditional clinical practice training methods. After one month, students were evaluated with LAP score sheet and the evaluation results were compared between two groups.Results:After one month of training, the scores of medical history collection, physical examination, problem solving, patient management, doctor-patient relationship, expected care and medical records in both groups increased compared with pre-training (the control group: t=4.23, 5.06, 8.94, 4.85, 3.99, 1.04, 5.13, study group: t=1.86, 2.85, 12.42, 13.61, 6.29, 4.83, 5.63, all P<0.05). The scores of medical history collection, physical examination, problem solving, patient management, doctor-patient relationship, and expected care after training in the study group were higher than those in the control group ( t=5.66, 2.83, 5.67, 8.13, 2.76, 2.52, all P<0.05). After the training, in the medical history collection items, the scores of patient-centered communication, RICE recognition, and physical-psychological-social factors in study group were higher than those in the control group ( t=5.66, 7.35 and 2.66, all P<0.05); in the problem-solving items, the scores of clinical data application, comprehensive analysis ability and personal ability limitation in study group were higher than those in the control group ( t=4.32, 3.38 and 2.26, all P<0.05); in the patient management items, the scores of overall management plans, doctor-patient collaboration, dispelling doubts, subsequent visits/follow-up, and the degree of patient understanding the management plan in the study group were higher than those in the control group ( t=3.03, 2.07, 2.43, 3.15 and 2.17, all P<0.05). Conclusion:The mentorship-LAP teaching model is helpful to improve the effectiveness of general practice internship for medicine students.

Objective: To explore the relationship between abuse experience with suicidal ideation and suicide attempts of junior middle school students, and to provide a reference for suicide prevention of junior middle school students. Methods: Cluster sampling method were used to selct 10 289 junior middle school students from 25 districts and counties of Chongqing were included in the analysis of this study from July to September in 2020. And Questionnaire on Abuse in Childhood and Mental Health Scale for Middle School Students were applied to collect the data about demographic information, suicide ideation and behavior. Results: The prevalence of suicidal ideation and suicide attempts among junior middle school students were 20.93% and 10.83%, respectively. Multivariate Logistic regression model found that after controlling for demographic variables and mental health, emotional abuse ( OR =2.07) and emotional neglect ( OR =2.03) showed higher correlations with suicidal ideation than the other three types of childhood abuse( OR physical neglect =1.19, OR physical abuse =1.60, OR sexual abuse =1.37, P <0.05); and sexual abuse ( OR =2.29) and physical neglect ( OR =1.87) showed higher associations with suicide attempt than the other three types of abuse( OR emotional abuse =1.63, OR emotional neglect =1.59, OR physical abuse =1.50, P <0.01). Conclusion All five types of child abuse were independent risk factors for suicidal ideation and suicide attempts, and emotional neglect and emotional abuse had a greater effect on suicidal ideation, sexual abuse and physical neglect had a greater effect on suicide attempts.

Objective:To investigate the correlation between social and linguistic parenting behaviors and developing capability of children with autism.Methods:From August 2020 to December 2020, the social and linguistic parenting behaviors of 302 parents of children diagnosed with autism were investigated in the outpatient department of the hospital.Meanwhile, the data of Gesell scale for children, the social life competence scale for infant and junior middle school students, the autism behavior checklist and the Cancy autism behavior scale were collected.SPSS 20.0 software was used for statistical analysis.Independent sample t test and analysis of variance were used to compare the social and linguistic parenting behaviors of different parents.Pearson correlation analysis was used to analyze the correlation between the social and linguistic parenting behaviors of parents and children's developmental ability and symptom severity. Results:There were no statistically significant differences in children's social and language development parenting behavior between father and mother ( t=1.033, P=0.303; t=-0.312, P=0.756). There were no statistically significant differences in children's social and linguistic parenting behaviors between fathers of different age groups ( F=1.425, P=0.244; F=1.127, P=0.345). Among mothers of different age groups, the social parenting behaviors of <30 years old and 30-34 years old groups were significantly better than those of 35-39 years old group ( F=3.374, P=0.019; LSD: P=0.010, P=0.006). Among fathers, the social parenting behavior( F=4.346, P=0.008; LSD: P=0.020, P=0.001) and social + linguistic parenting behavior in the graduate group and college group were significantly better than those in the high school/vocational group( F=3.965, P=0.012; LSD: P=0.020, P=0.002). Among mothers, the social parenting behavior ( F=2.812, P=0.040; LSD: P=0.008, P=0.023, P=0.009), linguistic parenting behavior ( F=3.769, P=0.011; LSD: P=0.010, P=0.025, P=0.001), social + linguistic parenting behavior ( F=3.654, P=0.013; LSD: P=0.005, P=0.015, P=0.002) in graduate and above groups were significantly better than those in college group, high school/vocational group, junior high school and below groups.The scores of social parenting behavior(40.72±6.80), linguistic parenting behavior(27.20±5.22), and social + linguistic parenting behavior(67.92±11.10) were significantly correlated with children’s fine motor(61.75±16.41)( r=0.193, P=0.001; r=0.153, P=0.009; r=0.190, P=0.001), cognition(68.28±16.83)( r=0.231, P=0.000; r=0.186, P=0.001; r=0.229, P=0.000), language(53.01±18.55) ( r=0.262, P=0.000; r=0.305, P=0.000; r=0.304, P=0.000) and social self-care(61.44±17.85) ( r=0.264, P=0.000; r=0.238, P=0.000; r=0.274, P=0.000). The scores of linguistic parenting behavior and social + linguistic parenting behavior were correlated with children's social life ability (8.65±0.89) ( r=0.142, P=0.046; r=0.140, P=0.049). There was no significant correlation between social parenting behavior, linguistic parenting behavior, social + linguistic parenting behavior and the scores of ABC scale (50.53±21.39) ( r=-0.089, P=0.336; r=-0.115, P=0.215; r=-0.107, P=0.250) and CABS scale (13.96±4.54) ( r=-0.050, P=0.490; r=-0.059, P=0.411; r=-0.058, P=0.421). Conclusions:The social and linguistic parenting behaviors are related to their age and educational level, and are significantly correlated to developing capability of children with autism, but have nothing to do with the severity of children's symptoms.