Point-of-care testing (POCT) provides key support for clinical decision-making through rapid detection. This article introduces the development background of POCT in the field of pre-hospital emergency, as well as the development status of POCT in Hangzhou City, and analyzes the problems of quality management. Pre-hospital emergency medical institutions in Hangzhou City have been equipped with POCT equipment, and the test items include blood glucose, cardiac troponin, etc. The implementation rates of internal quality control, comparison test, and proficiency testing were 58.2%, 50.3% and 42.6%, respectively. POCT quality management has problems such as unclear responsibility subjects, insufficient professional personnel, and a lack of standardization of the process. It is proposed to build a hierarchical collaborative management system, strengthen the double access mechanism of personnel and equipment, implement the whole process quality control, and build a digital management platform, so as to provide the reference for the high-quality development of POCT in pre-hospital medical emergency institutions.

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

OBJECTIVE: To investigate the clinical and genetic characteristics of a family with Vissers-Bodmer Syndrome (VIBOS) and to review the relevant literature on VIBOS caused by CNOT1 gene variants. METHODS: A child diagnosed with VIBOS due to "growth retardation for over 6 years" at the Linyi People's Hospital on March 1, 2024 and her family members were selected as the study subjects. Clinical data of the family were collected. Peripheral venous blood samples were collected from the family members. Whole-exome sequencing (WES) was performed on the proband's peripheral blood, and Sanger sequencing was used for verification of the candidate variant in the family. Pathogenicity of the candidate variant was classified according to the "Standards and Guidelines for the Interpretation of Sequence Variants" established by the American College of Medical Genetics and Genomics American College of Medical Genetics (ACMG). Bioinformatics analysis, including pathogenicity prediction using Mutation Taster, three-dimensional protein structure modeling using SWISS-MODEL, and functional impact assessment using PyMOL, was performed. Relevant literature on VIBOS patients due to variants of the CNOT1 gene was retrieved from databases such as CNKI, Wanfang Data, and PubMed. The clinical phenotypes and genotypes of the patients were summarized. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: YX200303). RESULTS: The proband, a 6-year-and-7-month-old female, presented with short stature, distinctive facial features (esotropia, hypertelorism, prominent nasolabial folds), webbed neck, clinodactyly, and intellectual disability. WES revealed that she has carried a heterozygous c.736delG (p.V246*) variant of the CNOT1 gene, which was unreported previously. The proband's father exhibited borderline intellectual function but no short stature or distinctive facial features. Sanger sequencing confirmed that he has carried the same heterozygous variant. According to the ACMG guidelines, this genetic variant was predicted as "likely pathogenic" (PVS1+PM2_Supporting). The c.736delG (p.V246*) variant was predicted to have a deleterious effect by Mutation Taster. Subsequent homology modeling using SWISS-MODEL, coupled with structural visualization and comparison using PyMOL, confirmed that it may cause premature termination of translation and produce a truncated protein. Literature search has retrieved five articles on VIBOS due to CNOT1 gene variants, which included 45 cases. Together with the proband and her father, the common clinical features among these 47 patients included distinctive facial features (83.0%, 39/47), speech delay (70.2%, 33/47), motor delay (70.2%, 33/47), intellectual disability (59.6%, 28/47), and short stature (48.9%, 23/47). In terms of the types of the variants, missense variants were the most common (47.4%, 18/38), followed by frameshift variants (21.0%, 8/38). The variant sites have mainly located in exons 7, 25, and 31. No significant genotype-phenotype correlation was noted. CONCLUSION The c.736delG (p.V246*) frameshift variant of the CNOT1 gene is likely the genetic etiology of VIBOS in this proband. The clinical manifestations of the proband were more severe than in her fathers, which suggested phenotypic variability associated with this variant. This study has provided new evidence for the understanding of the genetic basis of VIBOS.
Child ; Female ; Humans ; Male ; Exome Sequencing ; Intellectual Disability/genetics* ; Mutation ; Pedigree ; Transcription Factors/genetics* ; East Asian People/genetics*

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

Background Hebei Province is located in the North China Plain. In view of the influence of geological background and the acute and chronic hazards caused by excessive drinking water toxicological indicators, coupled with the large coverage of water supply in urban areas and the existence of self-built water supply facilities, it is necessary to understand the drinking water sanitation status in urban areas and conduct health risk assessment. Objective To investigate main indicators affecting the compliance rate of drinking water quality in urban areas of Hebei and evaluate the chronic non-carcinogenic risks of 11 chemicals. Methods The collection, preservation, and testing of 14299 samples of finished water, tap water, and secondary water supply in urban areas of Hebei Province from 2017 to 2021 were conducted following the Standard examination methods for drinking water (GB/T 5750—2006). A total of 11 chemicals were evaluated according to the Hygienic standards for drinking water (GB 5749—2006). The chronic non-carcinogenic risks of the 11 chemicals in drinking water by oral exposure were assessed using the four-step health risk assessment model developed by the United States Environmental Protection Agency and the Technical guide for environmental health risk assessment of chemical substances (WS/T 777—2021). Results From 2017 to 2021, the compliance rates of arsenic, cadmium, hexavalent chromium, lead, mercury, selenium, cyanide, chloroform, and carbon tetrachloride in drinking water in urban areas of Hebei Province were all 100.00%, and fluoride and nitrate (N) were the main indicators affecting water quality compliance, with compliance rates of 97.68% and 99.53% respectively. The compliance rate of fluoride increased year by year (χ²=178.06, P<0.05), and the concentration showed a downward trend (χ²=563.49, P<0.05). The compliance rate of fluoride in water samples during the wet season was higher than that during the dry season (χ²=5.06, P<0.05). The median concentrations of fluoride and nitrate in drinking water in urban areas of Hebei Province from 2017 to 2021 were 0.36 mg·L⁻¹ and 3.32 mg·L⁻¹, with hazard quotients of 0.15 and 0.05, respectively, both less than 1, suggesting no chronic non-carcinogenic risks, and no significant gender difference was found. The hazard quotient of maximum fluoride concentration was 1.65, which was greater than 1, suggesting chronic non-carcinogenic risks. The chronic non-carcinogenic risks associated with the maximum concentrations of the remaining 10 chemical indicators were all within an acceptable range. Conclusions Nine toxicological indicators in drinking water in urban areas of Hebei Province from 2017 to 2021, except for fluoride and nitrate, are within the national standards. Fluoride and nitrate are the main toxicological indicators that affect the overall compliance rate of water quality, and the chronic non-carcinogenic risks associated with maximum concertration of nitrate and 95% concentration of fluoride are at an acceptable level.

Objective:To explore the efficacy and safety of ibrutinib for the treatment of newly treated and relapsed refractory (R/R) lymphoplasmacytic lymphoma (LPL) /Waldenstr?m macroglobulinemia (WM) .Methods:Retrospectively collected clinical data of 98 cases of newly treated and R/R LPL/WM patients who received ibrutinib treatment at the Hematology & Blood Diseases Hospital of the Chinese Academy of Medical Sciences from March 2016 to June 2023, and analyzed their efficacy and safety.Results:A total of 98 LPL/WM patients were included, which consisted of 45 newly treated patients and 53 R/R patients. Of these, 74 were males (75.5%) and the cohort had a median age of 64 (42-87) years. Eighty-eight patients were eligible for efficacy evaluation with a median treatment time of 20.8 (2.1-55.0) months, a major remission rate (MRR) of 78.4%, and an overall response rate (ORR) of 85.2%. The MRR and ORR of the newly treated patients were 78.4% and 86.5%, respectively, whereas the MRR and ORR of the R/R patients were 78.4% and 84.3%, respectively. There were no statistically significant differences in MRR and ORR between the initial treatment and R/R patients (all P values >0.05) . The median follow-up period was 29.1 (2.9-50.3) months and the median overall survival time for newly treated and R/R patients was not reached. The median progression-free survival time was 23.5 (95% CI 10.5-36.5) months and 45.0 (95% CI 34.0-56.0) months, respectively, with no statistically significant differences (all P values >0.05) . There were 25 deceased patients and no deaths were related to ibrutinib treatment. The main adverse reactions of ibrutinib were thrombocytopenia (5.1%) , pneumonia (8.1%) , and hyperuricemia (21.4%) . The incidence of atrial fibrillation was 2.0%. Conclusion:Ibrutinib exhibits good efficacy and safety for newly treated and R/R LPL/WM patients.

OBJECTIVE: To analyze the clinical phenotype and genetic etiology for a child featuring congenital hypothyroidism (CH). METHODS: Whole exome sequencing (WES), copy number variation (CNV) sequencing and chromosomal microarray analysis (CMA) were carried out for a newborn infant who had presented at Linyi People's Hospital for CH. Clinical data of the child was analyzed, in addition with a literature review. RESULTS: The main characteristics of the newborn infant had included peculiar face, vulvar edema, hypotonia, psychomotor retardation, recurrent respiratory tract infection with laryngeal wheezing and feeding difficulties. Laboratory test indicated hypothyroidism. WES suggested a CNV deletion on chromosome 14q12q13. CMA further confirmed a 4.12 Mb deletion at chromosome 14q12q13.3 (32649595_36769800), which has encompassed 22 genes including NKX2-1, the pathogenic gene for CH. The same deletion was found in neither of her parents. CONCLUSION Through the analysis of clinical phenotype and genetic variant, the child was diagnosed with 14q12q13.3 microdeletion syndrome.
Female ; Humans ; Congenital Hypothyroidism/genetics* ; DNA Copy Number Variations ; Phenotype ; Syndrome ; Microarray Analysis

Objective:To retrieve, evaluate and integrate the best evidence for cognitive behavioral therapy for improving psychosomatic symptoms in chronic obstructive pulmonary disease (COPD) patients.Methods:According to the "6S" model, evidence related to the cognitive behavioral therapy of COPD patients, including clinical practice guidelines, evidence summaries, expert consensus, systematic reviews and original research, was searched in UpToDate, Joanna Briggs Institute Center for Evidence-Based Health Care database, BMJ Best Practice, Cochrane Library, Guidelines International Network, National Institute for Health and Clinical Excellence, Registered Nurses' Association of Ontario, Medlive, Global Initiative for Chronic Obstructive Lung Disease, PubMed, Embase, Web of Science, China Biology Medicine disc, China National Knowledge Infrastructure, Wanfang database and VIP. The search deadline was from the establishment of the databases to November 21, 2022. Two researchers independently evaluated the quality of the literature and extracted and summarized evidence from the literature that met the quality standards.Results:A total of 13 articles were included, including 2 clinical decision-making articles, 3 guidelines, 1 expert consensus, 3 systematic evaluations, 1 Meta-analysis and 3 randomized controlled trials. Finally, 21 pieces of evidence were formed from three aspects, such as establishing trust relationships, cognitive therapy and behavioral therapy.Conclusions:This study summarizes the best evidence for cognitive behavioral therapy to improve psychosomatic symptoms of COPD patients, in order to provide evidence-based evidence for cognitive behavioral therapy in COPD patients.

Objective:To analyze the risk factors of bronchopulmonary dysplasia(BPD)in very preterm infants(VPI), and to provide scientific basis for the prevention and treatment of BPD in VPI.Methods:A prospective multicenter study was designed to collect the clinical data of VPI in department of neonatology of 28 hospitals in 7 regions from September 2019 to December 2020.According to the continuous oxygen dependence at 28 days after birth, VPI were divided into non BPD group and BPD group, and the risk factors of BPD in VPI were analyzed.Results:A total of 2 514 cases of VPI including 1 364 cases without BPD and 1 150 cases with BPD were enrolled.The incidence of BPD was 45.7%.The smaller the gestational age and weight, the higher the incidence of BPD( P<0.001). Compared with non BPD group, the average birth age, weight and cesarean section rate in BPD group were lower, and the incidence of male infants, small for gestational age and 5-minute apgar score≤7 were higher( P<0.01). In BPD group, the incidences of neonatal respiratory distress syndrome(NRDS), hemodynamically significant patent ductus arteriosus, retinopathy of prematurity, feeding intolerance, extrauterine growth restriction, grade Ⅲ~Ⅳ intracranial hemorrhage, anemia, early-onset and late-onset sepsis, nosocomial infection, parenteral nutrition-associated cholestasis were higher( P<0.05), the use of pulmonary surfactant(PS), postnatal hormone exposure, anemia and blood transfusion were also higher, and the time of invasive and non-invasive mechanical ventilation, oxygen use and total hospital stay were longer( P<0.001). The time of starting enteral nutrition, cumulative fasting days, days of reaching total enteral nutrition, days of continuous parenteral nutrition, days of reaching 110 kcal/(kg·d) total calorie, days of reaching 110 kcal/(kg·d) oral calorie were longer and the breastfeeding rate was lower in BPD group than those in non BPD group( P<0.001). The cumulative doses of amino acid and fat emulsion during the first week of hospitalization were higher in BPD group( P<0.001). Multivariate Logistic regression analysis showed that NRDS, invasive mechanical ventilation, age of reaching total enteral nutrition, anemia and blood transfusion were the independent risk factors for BPD in VPI, and older gestational age was the protective factor for BPD. Conclusion:Strengthening perinatal management, avoiding premature delivery and severe NRDS, shortening the time of invasive mechanical ventilation, paying attention to enteral nutrition management, reaching whole intestinal feeding as soon as possible, and strictly mastering the indications of blood transfusion are very important to reduce the incidence of BPD in VPI.

Objective:To investigate the prognoses of pulmonary adenocarcinoma patients with leptomeningeal metastases (LM) and explore their influencing factors.Methods:A retrospective analysis was performed. The clinical data, imaging features and treatment plans of pulmonary adenocarcinoma patients with LM admitted to our hospital from January 2010 to June 2021 were collected. Overall survival (OS) was used as the prognostic evaluation criterion and patients were divided into good prognosis group (OS≥6 months) and poor prognosis group (OS<6 months) accordingly. Logistic regression analysis was used to evaluate the influencing factors for prognoses of pulmonary adenocarcinoma patients with LM. These patients were grouped according to different Karnofsky performance status (KPS) scores and different treatment methods, and survival curves were drawn to compare their OS.Results:A total of 173 pulmonary adenocarcinoma patients with LM were enrolled in the study, including 75 with good prognosis and 87 with poor prognosis. There were significant differences in the KPS scores, pulmonary adenocarcinoma lesion controlled status, giving third generation tyrosine kinase inhibitor (TKI) therapy or not, giving systemic chemotherapy and/or whole brain radiotherapy or not between the two groups ( P<0.05). Multivariate Logistic regression analysis showed that KPS scores and pulmonary adenocarcinoma lesion controlled status were independent influencing factors for prognoses ( OR=4.186, 95%CI: 1.583-11.070, P=0.004; OR=4.198, 95%CI: 1.499-11.760, P=0.006). Survival curves showed median OS of 8.2 months for all patients ( 95%CI: 6.5-9.8). The OS in patients with low-risk(KPS scores≥60) was significantly higher than that in patients with high-risk(KPS scores<60), that in patients accepted TKI treatment was significantly higher than that in patients not accepted TKI treatment, and that in patients accepted TKI and systemic chemotherapy was significantly higher than that in patients accepted TKI alone ( P<0.05). Conclusion:Patients with high KPS scores and controlled pulmonary adenocarcinoma can have relatively good prognosis; TKI treatment and combination therapy may prolong OS of these patients.