OBJECTIVE: To explore the prenatal and postnatal phenotypes of 22q11.2 microdeletion syndrome (22q11.2DS) and enhance clinical understanding of this condition. METHODS: Data were collected from 86 fetuses diagnosed with 22q11.2DS at four prenatal diagnostic centers across China between January 2014 and August 2025. Prenatal imaging findings, pregnancy outcomes, and postnatal conditions were analyzed. RESULTS: Among the 86 fetuses, complete ultrasound data were available for 65 cases. Cardiovascular abnormalities were observed in 42 cases, thymic hypoplasia or aplasia in 7 cases, urinary system anomalies in 6 cases, nuchal translucency (NT) thickening in 7 cases, butterfly vertebrae, clubfoot, omphalocele and diaphragmatic hernia in 1 case each, cleft lip and palate in 2 cases, and ultrasound soft markers in 13 cases. The parents of 9 fetuses opted to continue with the pregnancy. Among these, 6 showed no significant ultrasound abnormalities and no related phenotypes postnatally, while the remaining 3 exhibited ultrasound anomalies with postnatal manifestations including developmental delay, immunodeficiency, and cardiac defects. CONCLUSION Fetuses with 22q11.2DS may exhibit various ultrasound abnormalities in multiple systems before and after birth. In addition to cardiovascular anomalies, they may also present with thymic hypoplasia or aplasia, thickened NT, and urinary abnormalities. Fetuses with thickened NT or thymic anomalies should be closely monitored, and thymic assessment should be included in routine prenatal imaging evaluations. For fetuses with 22q11.2DS who show no ultrasound abnormalities, the risk of developing severe phenotypes after birth is relatively low, but occult palate clefts and psychiatric disorders cannot be ruled out. Due to limitations in sample size and follow-up duration, above conclusions require further validation through large-scale prospective studies.
Humans ; Female ; Pregnancy ; Ultrasonography, Prenatal ; DiGeorge Syndrome/genetics* ; Adult ; Male ; Follow-Up Studies ; Fetus/diagnostic imaging* ; Phenotype ; Infant, Newborn

Objective To compare the effect of cold therapy at different temperature on the pain and motor function of delayed onset muscle soreness(DOMS)in the upper limbs of young men.Methods From April to July,2024,24 healthy young men(aged 22 to 26 years)were selected from the Key Laboratory of Winter Sports Technical Diagnosis and Skill Evaluation of the General Administration of Sport of China at Shenyang Sport University,and randomly divided into control group,group A and group B equally.An isokinetic muscle strength testing system was used to establish a DOMS movement model for elbow joint.Then,group A re-ceived cold therapy at a constant temperature of 10℃for 10 minutes,group B received cold therapy at a con-stant temperature of 6℃for 10 minutes,and the control group received natural recovery.They were measured relative peak torque(rPT)of the elbow flexor muscles at angular velocities of 60°/s,120°/s and 180°/s with iso-kinetic muscle strength testing system,and root mean square(RMS)of EMG amplitude of biceps brachii was synchronously collected using a wireless surface EMG system,immediately,and 24,48 and 72 hours after model establishment;while,they were assessed with Visual Analogue Scale(VAS)for pain.Results The main effects of VAS score,rPT and RMS were significant in both intra-group(F>15.716,P<0.001)and inter-group(F>6.478,P<0.01).At 24,48 and 72 hours after model establishment,the VAS scores showed a trend of control group>group A>group B(P<0.05).Although the pairwise comparison results of rPT and RMS among the groups varied at different time points after model establishment under different angular veloci-ties,overall,rPT presented a trend of control groupgroup A>group B(P<0.05).The higher the angular velocity and the longer the time,the more obvious this trend was.Conclusions Cold therapy can relieve the pain of DOMS in the upper limbs of young men and promote the recovery of muscle strength,especially at a constant temperature of 6℃.

Objective To compare the effect of cold therapy at different temperature on the pain and motor function of delayed onset muscle soreness(DOMS)in the upper limbs of young men.Methods From April to July,2024,24 healthy young men(aged 22 to 26 years)were selected from the Key Laboratory of Winter Sports Technical Diagnosis and Skill Evaluation of the General Administration of Sport of China at Shenyang Sport University,and randomly divided into control group,group A and group B equally.An isokinetic muscle strength testing system was used to establish a DOMS movement model for elbow joint.Then,group A re-ceived cold therapy at a constant temperature of 10℃for 10 minutes,group B received cold therapy at a con-stant temperature of 6℃for 10 minutes,and the control group received natural recovery.They were measured relative peak torque(rPT)of the elbow flexor muscles at angular velocities of 60°/s,120°/s and 180°/s with iso-kinetic muscle strength testing system,and root mean square(RMS)of EMG amplitude of biceps brachii was synchronously collected using a wireless surface EMG system,immediately,and 24,48 and 72 hours after model establishment;while,they were assessed with Visual Analogue Scale(VAS)for pain.Results The main effects of VAS score,rPT and RMS were significant in both intra-group(F>15.716,P<0.001)and inter-group(F>6.478,P<0.01).At 24,48 and 72 hours after model establishment,the VAS scores showed a trend of control group>group A>group B(P<0.05).Although the pairwise comparison results of rPT and RMS among the groups varied at different time points after model establishment under different angular veloci-ties,overall,rPT presented a trend of control groupgroup A>group B(P<0.05).The higher the angular velocity and the longer the time,the more obvious this trend was.Conclusions Cold therapy can relieve the pain of DOMS in the upper limbs of young men and promote the recovery of muscle strength,especially at a constant temperature of 6℃.

Objective To review the effect of orthopedic insoles on arch morphology,pain and lower limb motor function in chil-dren and adolescents with flexible flatfoot. Methods Relevant literature was retrieved from PubMed,Web of Science,Embase,CNKI,CBM,Wanfang data and VIP databases,from inception to October,2024,and a scoping review was conducted. Results Ten researches were included,comprising seven cohort studies and three randomized controlled trials,originat-ing from China,Korea,Iran and Romania,involving 520 children and adolescents with flexible flatfoot.Orthope-dic insoles could increase the calcaneal pitch angle,reduce the Meary's angle and arch index;improve motor function of feet and lower limbs,stability of anterior and posterior,medial,and overall,adjust the kinematics and ground reaction force in walking;relieve pain and reduce incidence of pain. Conclusion Wearing orthopedic insoles could improve the arch morphology,dynamic balance and gait function,and re-lieve pain in children and adolescents with flexible flatfeet.

Objective This study aims to systematically evaluate the experiences of patients with hematologic neoplasm undergoing chimeric antigen receptor T-cell(CAR-T)therapy and nursing care,and to provide a reference basis for healthcare providers to develop personalized intervention strategies.Methods PubMed,Web of Science,Embase,CINAHL,Cochrane Library,PsycINFO,Scopus,Australia Joanna Briggs Institute(JBI)EBP Database,China National Knowledge Infrastructure(CNKI),Wanfang Data,VIP Database,and China Biology Medicine(CBM)Database were systematically searched for qualitative studies on the experiences of patients with hematologic neoplasm undergoing CAR-T therapy and nursing care.The search period extended up to September 2023.The quality of the literature was reviewed according to the JBI Qualitative Assessment and Review Instrument,and a pooled analysis was applied to integrate the results.Results A total of 15 studies were included,generating 76 findings,which were then organized into 8 categories,resulting in 3 integrated findings.(1)Patients experienced conflicting emotions,with expectations often at odds with reality,leading to emotional fluctuations:expectations about treatment were entangled with concerns about risks;emotions fluctuated with expectations and actual experiences.(2)Patients experienced physical and social functional impairments,but as the disease eased,normal functioning recovered:rapid decline and improvement in physical functions;loss and recovery of social functions.(3)Patients desired access to professional guidance and psychosocial support.Conclusion Patients undergoing CAR-T therapy often contend with emotional conflicts.Changes in physical and social functions after the completion of treatment result in needs for seeking comprehensive medical and nursing support.It is recommended that healthcare providers conduct dynamic assessments and interventions regarding patients'emotional states before treatment,focus on early identification and management of adverse reactions after treatment,and offer continuous nursing services after discharge to enhance patients'confidence in participating in CAR-T therapy and improve their overall quality of life.

Objective:To analyze the clinical characteristics of monkeypox patients.Methods:The clinical data and laboratory findings of 4 patients with monkeypox patients diagnosed at Yiwu Central Hospital in July 2023 were analyzed. Herpes fluid and skin tissue samples were collected, the viruses were isolation and cultured in African green monkey kidney cells (Vero) and identified with whole gene sequencing.Results:All four patients were male, aged 24-35 years. All patients had male-to-male behavior within 21 days before onset of the disease. Among them, one patient has AIDS and one patient has syphilis. Four patients presented with perineal skin lesions with itching, and 3 patients were found to have enlarged lymph nodes upon admission. Laboratory testing: lymphocyte abnormality (4.57×10 9/L) in 1 case; increased procalcitonin (0.25 ng/mL) in 1 case; elevated IL-10 levels ( 7.11 ng/L and 9.42 ng/L) in 2 cases; increased IL-6 (66 ng/L) and IL-4 (3.24 ng/L) in 1 case, respectively. One case had abnormal myocardial zymogram with a elevated lactate dehydrogenase level of 313 U/L. The monkeypox virus was isolated from lesion tissue and herpes fluid, and the whole gene sequencing identified it as the B. 1.3 subtype of the IIb evolutionary branch, exhibiting typical pathological effects on Vero cells. Conclusion:The clinical manifestations of the 4 monkeypox patients confirmed in Zhejiang province are mild, patients had a definitive history of male-to-male sexual behavior and the virus strains belong to the B. 1.3 lineage of the IIb evolutionary branch.

Objective:To compare and analyze the technical success rate and safety between computed tomography(CT)-percutaneous radiological gastrostomy (PRG) and percutaneous endoscopic gastrostomy (PEG).Methods:From January 2017 to January 2022, at the First Affiliated Hospital of Zhengzhou University, the data of 76 patients who underwent gastrostomy due to inability to eat orally were collected, including 38 patients in PEG group and 38 patients in CT-PRG group. Surgical outcomes and complications were compared between the PEG and CT-PRG groups. Surgical outcomes included technical success rate, operation time, postoperative body mass index and hospital stay; while complications included minor complications (such as perifistula infection, granulation tissue proliferation, leakage, pneumoperitoneum, fistula tube obstruction, fistula tube detachment and persistent pain) and serious complications (such as bleeding, peritonitis, colonic perforation and death within 30 d). Independent sample t test, chi-square test, and Fisher exact probability test were used for statistical analysis. Results:The technical success rate of CT-PRG group was higher than that of the PEG group (100.0%, 38/38 vs. 78.9%, 30/38), and the operation time was shorter than that of the PEG group ((17.16±8.52) min vs. (29.33±16.22) min), and the differences were statistically significant ( χ2=1.19, t=2.36; P=0.038 and 0.011). There were no significant differences in postoperative body mass index ((16.29±3.56) kg/m 2 vs. (16.12±3.17) kg/m 2) and hospital stay ((4.13±1.26) d vs. (3.52±1.13) d) between PEG group and CT-PRG group (both P>0.05). The incidence of minor complications in the PEG group was 42.1% (16/38), including 6 cases of perifistulal infection, 1 case of leakage, 5 cases of fistula tube obstruction, 1 case of fistula tube detachment, and 3 cases of persistent pain. The incidence of serious complications was 5.3% (2/38), including 1 case of bleeding and 1 case of colonic perforation. The incidence of minor complications in the CT-PRG group was 39.5% (15/38), including 5 cases of perifistula infection, 1 case of granulation tissue proliferation, 3 cases of pneumoperitoneum, 3 cases of fistula tube obstruction, 2 cases of fistula tube detachment, and 1 case of persistent pain. The incidence of serious complications was 0. There was no significant difference in the incidence of minor complications between the PEG group and the CT-PRG group ( P>0.05), while the incidence of serious complications in the CT-PRG group was lower than that of the PEG group, and the difference was statistically significant (Fisher exact probability test, P=0.043). Conclusion:PEG is a safe and effective method of gastrostomy, but for patients with esophageal obstruction, CT-PRG can be an effective supplement to PEG.

To address the increasing need for detecting and validating protein biomarkers in clinical specimens, mass spectrometry (MS)-based targeted proteomic techniques, including the selected reaction monitoring (SRM), parallel reaction monitoring (PRM), and massively parallel data-independent acquisition (DIA), have been developed. For optimal performance, they require the fragment ion spectra of targeted peptides as prior knowledge. In this report, we describe a MS pipe-line and spectral resource to support targeted proteomics studies for human tissue samples. To build the spectral resource, we integrated common open-source MS computational tools to assemble a freely accessible computational workflow based on Docker. We then applied the workflow to gen-erate DPHL, a comprehensive DIA pan-human library, from 1096 data-dependent acquisition (DDA) MS raw files for 16 types of cancer samples. This extensive spectral resource was then applied to a proteomic study of 17 prostate cancer (PCa) patients. Thereafter, PRM validation was applied to a larger study of 57 PCa patients and the differential expression of three proteins in prostate tumor was validated. As a second application, the DPHL spectral resource was applied to a study consisting of plasma samples from 19 diffuse large B cell lymphoma (DLBCL) patients and 18 healthy control subjects. Differentially expressed proteins between DLBCL patients and healthy control subjects were detected by DIA-MS and confirmed by PRM. These data demonstrate that the DPHL supports DIA and PRM MS pipelines for robust protein biomarker discovery. DPHL is freely accessible at https://www.iprox.org/page/project.html?id=IPX0001400000.

Objective: To evaluate the effectiveness of enteral nutrition in children with accidental upper gastrointestinal injury. Methods: The medical records of 128 patients with mechanical or chemical gastrointestinal mucosal injury, who were hospitalized in Department of Gastroenterology, Children's Hospital of Zhejiang University School of Medicine from January 1, 2011 to December 30, 2017, were collected. All cases were treated with enteral nutrition. The clinical features and etiologies were retrospectively analyzed. Weight-for-age Z score and lab findings including white blood cells, C-reactive protein, neutrophils, albumin, prealbumin, urea nitrogen and hemoglobin before and after treatment were extracted. The clinical characteristics, the duration of enteral nutrition and gastrointestinal mucosal healing between different etiologies were further analyzed. Normal distribution variables and categorized variables were compared with t test and χ² test respectively, and abnormal distribution data was compared with Wilcoxon test. Results: Among all the cases, 77 were males and 51 were females. The average age was (29±22) months. The mean duration of hospitalization and enteral nutrition were (11±7)d and (27±20)d respectively. Vomiting was the most common clinical presentation (72 cases, 56.3%). In 79 cases the problems were caused by mechanical injury, among which coins were most commonly seen. The rest 49 cases were caused by chemical injury. However, the duration of hospitalization ((13±8) d vs. (10±6)d, t=-3.089, P=0.002) and enteral nutrition ((39±22) vs. (19±14) d, t=-5.365, P=0.000) were longer in children with chemical injury than those with mechanical injury. A total of 112 cases got complete blood count and C-reactive protein both before and after enteral nutrition. Inflammatory markers, including leukocytes ((7.7±2.7) ×10⁹/L vs. (13.7±5.0) ×10⁹/L, t=12.244, P <0.05), neutrophils ((3.4±1.9)×10⁹/L vs. (9.4±4.6) ×10⁹/L, t=13.655, P<0.05), and C-reactive proteins (5.0(3.0,7.8) vs. 13.5(6.0,40.5) mg/L, Z=7.776, P <0.05) were significantly decreased. The nutritional markers, including the weight-for-age z score (-0.1 ± 1.0 vs. 0.0 ± 1.0, t=-2.622, P=0.010) and the prealbumin (0.1 ± 0.1 vs. 0.2 ± 0.0 g/L, t=-3.671, P=0.001) were significantly increased. Fifty-five (82.1%) children in mechanical injury group recovered in 4 weeks, while 27 (79.4%) children in chemical injury group recovered in 7 weeks. Conclusion Enteral nutrition can provide adequate nutritional requirements for children with upper gastrointestinal injury, and may help to decrease imflammation and improve mucosal healing.