A 5-year-old girl was admitted due to one episode of melena and one episode of hematemesis.Upon admission,gastroscopy revealed esophageal and gastric varices.Abdominal CT scan,MRI,and color Doppler ultrasound suggested cirrhosis,intrahepatic bile duct dilation,and bilateral kidney enlargement.Genetic testing identified compound heterozygous mutations in the PKHD1 gene:c.2264C>T(p.Pro755Leu)and c.1886T>C(p.Val629Ala).The c.2264C>T(p.Pro755Leu)mutation is a known pathogenic variant with previous reports,while c.1886T>C(p.Val629Ala)is a novel mutation predicted to have pathogenic potential according to Mutation Taster and PolyPhen2.The child was diagnosed with autosomal recessive polycystic kidney disease.In children presenting with gastrointestinal bleeding without obvious causes,particularly those with liver or kidney disease,consideration should be given to the possibility of autosomal recessive polycystic kidney disease,and genetic testing should be conducted for definitive diagnosis when necessary.

Objective:This study aims to demonstrate the feasibility of using Bio-layer Interferometry (BLI) for label-free detection of peripheral blood biomarkers, using C-reactive protein (CRP) as a model molecule.Methods:A total of 85 clinical remnant serum samples from routine laboratory tests were collected from Fuwai Hospital, Chinese Academy of Medical Sciences, from July 2021 to May 2022. The biotinylated anti-CRP antibody was immobilized onto streptavidin-functionalized BLI probes. The GatorPrime BLI system was used to detect series of diluted CRP standards in real-time, and to generate dynamic binding curves for establishing standard curves based on the relationship between concentration and initial binding rates. The sensitivity of the method, including the limit of blank (LoB), limit of detection (LoD), and limit of quantitation (LoQ), was evaluated according to Clinical & Laboratory Standards Institute (CLSI) guidelines. Serum samples and third-party quality control materials were used to evaluate the precision, while linearity was verified through the dilution of a high-concentration serum series. Method comparison between the label-free BLI assay and conventional clinical laboratory immunoassays was conducted using Passing-Bablok regression and Spearman correlation analysis.Results:The GatorPrime BLI system demonstrated a dynamic detection range of 0.6-300 mg/L for CRP standards, and the linearity within this range was validated using serum samples. The LoB, LoD, and LoQ for this method were determined to be 0.246 mg/L, 0.573 mg/L, and 2.158 mg/L, respectively. Precision analysis showed that the total laboratory imprecision of the four levels of quality control materials (21.15-57.26 mg/L) ranged from 5.8% to 9.0%, and the total imprecision of the two serum samples (2.32 mg/L and 100.06 mg/L) was 22.3% and 7.4%, respectively. Methodological comparison with two commonly used clinical laboratory immunoassays revealed a strong correlation with our method(Passing-Bablok regression: Y=?1.065+1.119 X and Y=?0.452+1.034 X, r=0.993 and r=0.976, P<0.001). Conclusions:The label-free BLI immunoassay method enables the detection of CRP across a broad concentration range in blood samples, with analytical performance meeting the requirements for laboratory testing. This method shows potential as a reliable and efficient alternative for CRP measurement in clinical practice.

OBJECTIVE: This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province. METHODS: We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed. RESULTS: The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α ^3.7/αα (50.23%) and β ^IVS-II-654/β ^N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively. CONCLUSION Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.
Humans ; beta-Thalassemia/genetics* ; alpha-Thalassemia/genetics* ; Hemoglobinopathies/genetics* ; China/epidemiology* ; High-Throughput Nucleotide Sequencing

Objective: To establish a dynamic syndromic surveillance system in the border areas of Yunnan Province based on information technology, evaluate its effectiveness and timeliness in the response to common communicable disease epidemics and improve the communicable disease prevention and control in border areas. Methods: Three border counties were selected for full coverage as study areas, and dynamic surveillance for 14 symptoms and 6 syndromes were conducted in medical institutions, the daily collection of information about students' school absence in primary schools and febrile illness in inbound people at border ports were conducted in these counties from January 2016 to February 2018 to establish an early warning system based on mobile phone and computer platform for a field experimental study. Results: With syndromes of rash, influenza-like illness and the numbers of primary school absence, the most common communicable disease events, such as hand foot and mouth disease, influenza and chickenpox, can be identified 1-5 days in advance by using EARS-3C and Kulldorff time-space scanning models with high sensitivity and specificity. The system is easy to use with strong security and feasibility. All the information and the warning alerts are released in the form of interactive charts and visual maps, which can facilitate the timely response. Conclusions: This system is highly effective and easy to operate in the detection of possible outbreaks of common communicable diseases in border areas in real time, so the timely and effective intervention can be conducted to reduce the risk of local and cross-border communicable disease outbreaks. It has practical application value.
Humans ; Influenza, Human ; Sentinel Surveillance ; Syndrome ; China ; Cell Phone

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of breast myofibroblastoma. Methods: The clinicopathological data and prognostic information of 15 patients with breast myofibroblastoma diagnosed at the Department of Pathology of the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China from 2014 to 2022 were collected. Their clinical characteristics, histological subtypes, immunophenotypes and molecular characteristics were analyzed. Results: There were 12 female and 3 male patients, ranging in age from 18 to 78 years, with a median and average age of 52 years. There were 6 cases in the left breast and 9 cases in the right breast, including 12 cases in outer upper quadrant, 2 cases in inner upper quadrant and 1 case in outer lower quadrant. Most of the cases showed a well-defined nodule grossly, including pushing growth under the microscope in 13 cases, being completely separated from the surrounding breast tissue in 1 case, and infiltrating growth in 1 case. Among them, 12 cases were classic subtype and composed of occasional spindle cells with varying intervals of collagen fiber bundles; eight cases had a small amount of fat; one case had focal cartilage differentiation; one case was epithelioid subtype, in which epithelioid tumor cells were scattered in single filing or small clusters; one case was schwannoma-like subtype, and the tumor cells were arranged in a significant palisade shape, resembling schwannoma, and one case was invasive leiomyoma-like subtype, in which the tumor cells had eosinophilic cytoplasm and were arranged in bundles, and infiltrating into the surrounding mammary lobules like leiomyoma. Immunohistochemical studies showed that the tumor cells expressed desmin (14/15) and CD34 (14/15), as well as ER (15/15) and PR (15/15). Three cases with histologic subtypes of epithelioid subtype, schwannoma-like subtype and infiltrating leiomyoma-like subtype showed RB1 negative immunohistochemistry. Then FISH was performed to detect RB1/13q14 gene deletion, and identified RB1 gene deletion in all three cases. Fifteen cases were followed up for 2-100 months, and no recurrence was noted. Conclusions: Myofibroblastoma is a rare benign mesenchymal tumor of the breast. In addition to the classic type, there are many histological variants, among which the epithelioid subtype is easily confused with invasive lobular carcinoma. The schwannoma-like subtype is similar to schwannoma, while the invasive subtype is easily misdiagnosed as fibromatosis-like or spindle cell metaplastic carcinoma. Therefore, it is important to recognize the various histological subtypes and clinicopathological features of the tumor for making correct pathological diagnosis and rational clinical treatment.
Female ; Humans ; Male ; Antigens, CD34 ; Biomarkers, Tumor/analysis* ; Leiomyoma/pathology* ; Neoplasms, Muscle Tissue/pathology* ; Neurilemmoma ; Adolescent ; Young Adult ; Adult ; Middle Aged ; Aged

Abstract: Objective　To evaluate the potential transmission risk of schistosomiasis in Yunnan Province, and to provide strategic basis for the prevention and control. Methods　Based on the prevalence of schistosomiasis, the social and environmental factors that may lead to the epidemic, 1-3 villages from 3 provincial-level and 15 county-level counties (cities and districts) were selected as the evaluated villages in 2021. The risk of schistosomiasis spread was analyzed comprehensively by consulting, reviewing and collecting routine surveillance data of schistosomiasis in the villages, combined with snail and wild feces survey. The risk level was evaluated for the positive snails, positive wild feces, resident infection, average density of live snails and snail frame occurrence rate. Results　Totally 7 snail counties schistosomiasis transmission was blocked of 18 epidemic counties and the rest were eliminated counties. A total of 152 447 snail frames were investigated and 3 043 frames with snails, 15 895 snails were captured and included 15 727 live snails in the 32 evaluated villages. The total area of snail was 58.87 hm2 and the area of reoccurrence was 34.19 hm2 with snail frame occurrence rate of 2.00% and average density of live snails 0.103 2/0.11 m2, and no positive snails were found by loop-mediated isothermal amplification (LAMP) assay. A total of 1 374 wild feces were collected in 27 evaluated villages of 14 epidemic counties, mainly from cattle, dogs, sheep, equine animals, pigs and so on, all of which were negative. According to the risk assessment of epidemic spread, Yongle Village and Yongsheng Village in Eryuan County, Zhiming Village in Chuxiong City were Ⅱ risk, and the rest were Ⅲ risk. Conclusions　Although the risk of transmission is low in Yunnan Province, the risk of transmission and spread still exists. It is necessary to strengthen the risk monitoring, control of snail and effective management of livestock to prevent the rebound of the epidemic.

Ankylosing spondylitis(AS)is a chronic inflammatory rheumatic disease, which belongs to the category of autoimmune diseases and is characterized by inflammatory back pain owing to sacroiliitis and other axial arthritis, as well as bone structural damage and pathological new bone formation. Severe joint and extra-joint lesions have caused great inconvenience and pain, from which patients with ankylosing spondylitis suffer a lot. Therefore researchers have paid more attention to the pathogenesis and drug regulation of ankylosing spondylitis in recent years. At present, the universally recognized pathogenesis of AS includes the influence of genetic factors, immune factors and classical osteogenic pathways, all of which are interrelated and synergistically lead to the progression of AS. In view of its pathogenesis, a series of drugs targeting inflammation have been emerging, including tumor necrosis factor inhibitors, interleukin-17/interleukin-23(IL-17/IL-23)monoclonal antibodies and some anti-rheumatism drugs to relieve the symptoms. Moreover, we also herein highlight the therapeutic necessity of targeting pathological osteogenesis.

ObjectiveTo explore the regulatory effect of Gouqi chewable tablets on innate and adaptive immunity in normal mice and its antioxidant activity in vitro and in vivo. MethodThe effects of low-， medium-， and high-dose groups （0.25， 0.5， 1.5 g·kg^-1） on the immune function of normal mice were observed by carbon clearance test， immune organ index test， serum hemolysin test， ConA-induced splenic lymphocyte proliferation test， and natural killer cell （NK cell） activity test. The effects of Gouqi chewable tablets on the antioxidant capacity in vivo were determined by detecting the content of superoxide dismutase （SOD）， glutathione peroxidase （GSH-Px）， and malondialdehyde （MDA） in mice serum. The in vitro antioxidant activity of Gouqi chewable tablets was detected by 2，2'-azino-bis（3-ethylbenzothiazoline-6-sulfonic acid） diammonium salt （ABTS）， 2，2-diphenyl-1-picrylhydrazyl （DPPH）， and hydroxyl radical scavenging tests. ResultCompared with the blank control group， the low-， medium-， and high-dose groups of Gouqi chewable tablets improved the viability of NK cells， the proliferation of splenic lymphocytes， and the level of serum hemolysin antibody in mice （P<0.05）. The high-dose group increased the thymus index， spleen index， and phagocytic function of macrophages （P<0.05， P<0.01）. As compared with the blank control group， the activity of GSH-Px in mice serum in the medium-dose group was increased （P<0.05）， and the content of MDA in mice serum in the high-dose group was decreased （P<0.05）. In in vitro antioxidant tests， the median inhibitory concentration （IC₅₀） values of Gouqi chewable tablets were 1.64±0.20， 2.04±0.03， and 10.27±0.03 g·L^-1 by the DPPH， ABTS， and OH^- free radical method， respectively. Those results indicated that Gouqi chewable tablets have good antioxidant effects in vitro. ConclusionGouqi chewable tablets can enhance the immune function of mice with good antioxidant effects.

Purpose: Capecitabine is an extensively used oral prodrug of 5-fluorouracil in treatment of colon cancer and is known to cause hand-foot syndrome (HFS). As the target enzyme for capecitabine, thymidylate synthase (TYMS) plays a key role for 5-fluorouracil metabolism and has been associated with some side effects caused by capecitabine. The aim of our study is to identify the possible genetic predictors of capecitabine-induced HFS (CAP-HFS) in Chinese colorectal cancer patients. Materials and Methods: Whole exons of TYMS were sequenced for 288 extreme phenotype HFS patients, including 144 severe or early-onset (first 2 cycles) moderate HFS extreme cases and 144 extreme controls with no reported HFS. The associations between polymorphisms and CAP-HFS were analyzed using logistic regression under an additive model. Results: We identified a novel risk mutation (c.1A>G, chr18:657743), was associated with severe HFS in an extreme case who was affected during the first cycle of treatment. Moreover, we identified three new variants, rs3786362, rs699517, rs2790, and two previously reported variants, 5’VNTR 2R/3R and 3′-untranslated region 6-bp ins-del, which were significantly associated with CAP-HFS (p < 0.05). In silico analysis revealed that the effect of these polymorphisms in the TYMS region on the development of HFS might not be restricted solely to the regulation of TYMS expression, but also the TYMS catalytic activity through the indirect effect on ENOSF1 expression. Conclusion This study identified new polymorphisms in TYMS gene significantly associated with CAP-HFS, which may serve as useful genetic predictors for CAP-HFS and help to elucidate the underlying mechanism of HFS.

Background: Cardiopulmonary resuscitation (CPR) strategies in COVID-19 patients differ from those in patients suffering from cardiogenic cardiac arrest. During CPR, both healthcare and non-healthcare workers who provide resuscitation are at risk of infection. The Working Group for Expert Consensus on Prevention and Cardiopulmonary Resuscitation for Cardiac Arrest in COVID-19 has developed this Chinese Expert Consensus to guide clinical practice of CPR in COVID-19 patients. Main recommendations: 1) A medical team should be assigned to evaluate severe and critical COVID-19 for early monitoring of cardiac-arrest warning signs. 2) Psychological counseling and treatment are highly recommended, since sympathetic and vagal abnormalities induced by psychological stress from the COVID-19 pandemic can induce cardiac arrest. 3) Healthcare workers should wear personal protective equipment (PPE). 4) Mouth-to-mouth ventilation should be avoided on patients suspected of having or diagnosed with COVID-19. 5) Hands-only chest compression and mechanical chest compression are recommended. 6) Tracheal-intubation procedures should be optimized and tracheal-intubation strategies should be implemented early. 7) CPR should be provided for 20-30 min. 8) Various factors should be taken into consideration such as the interests of patients and family members, ethics, transmission risks, and laws and regulations governing infectious disease control. Changes in management: The following changes or modifications to CPR strategy in COVID-19 patients are proposed: 1) Healthcare workers should wear PPE. 2) Hands-only chest compression and mechanical chest compression can be implemented to reduce or avoid the spread of viruses by aerosols. 3) Both the benefits to patients and the risk of infection should be considered. 4) Hhealthcare workers should be fully aware of and trained in CPR strategies and procedures specifically for patients with COVID-19.