Objective:To summarize the clinical phenotype and genetic characteristics of children with neurodegeneration caused by UBTF gene mutations in childhood. Methods:The clinical and genetic data of 3 children with neurodegeneration in childhood diagnosed in the Department of Neurology, Children′s Hospital Affiliated to Zhengzhou University from February 2020 to January 2023 were retrospectively analyzed. All the 3 probands were found having UBTF gene mutations through the whole exome gene sequencing, and the first generation Sanger sequencing method was used to verify the UBTF gene in their family members. The variation characteristics of the UBTF gene were analyzed, and the treatment and follow-up results of the 3 children were summarized. Results:Among the 3 children with childhood onset neurodegeneration, 2 were male and 1 female, aged 9 months, 4 years and 6 months after birth, respectively. The clinical phenotypes mainly included motor retardation, speech and mental retardation, and dystonia. Among them, case 1 and case 2 had seizures, case 1 had dysphagia, feeding problems, no weight gain and ataxia. Brain MRI plain scan showed that case 1 and case 2 had different degrees of cerebral atrophy, case 1 had hypoplasia of corpus callosum, ventricle expansion and softening focus, and case 3 showed non-specific widening of the subarachnoid space. There were no abnormalities in the chromosome copy number variation and mitochondrial ring gene testing in the 3 children; the whole exon gene testing suggested the de novo missense variant in the UBTF gene [NM_014233.4: c.1414(exon14) G>A (p.Gly472Ser), c.1392(exon14)G>T(p.Lys464Asn)] and the maternal nonsense variant [NM_014233.4:c.520C>T(p.Arg174 *)], which were unreported site variants. In terms of treatment, the 3 children received comprehensive rehabilitation function training, and achieved a certain degree of language and intelligence improvement. Seizure control was effectively managed in case 1 with a single antiepileptic drug. Epileptic seizures were effectively treated and controlled in case 2 using more than 4 types of antiepileptic drugs. Conclusions:Neurodegenerative changes caused by UBTF gene mutations in childhood are relatively rare, and some cases may be accompanied with brain atrophy. De novo missense variation and maternal nonsense variation of the UBTF gene are the genetic etiology of the 3 probands.

Objective To investigate the origin of Biomphalaria straminea in China, so as to provide insights into assessment of schistosomiasis mansoni transmission risk and B. straminea control. Methods Guanlan River, Dasha River, Shenzhen Reservoir, upper and lower reaches of Kuiyong River, and Xinzhen River in Shenzhen, China, were selected as sampling sites. Ten Biomphalaria samples were collected from each site, and genomic DNA was extracted from Biomphalaria samples. DNA samples were obtained from 15 B. straminea sampled from 5 sampling sites in Minas Gerais State, Pará State, Federal District, Pernambuco State, and Sao Paulo State in Brazil, South America. Cytochrome c oxidase I (COI) and mitochondrial 16S ribosomal RNA (16S rRNA) genes were sampled using the above DNA templates, and the amplified products were sequenced. The COI and 16S rRNA gene sequences were downloaded from GenBank, and the sampling sites were acquired. All COI and 16S rRNA gene sequences were aligned and evolutionary trees of B. straminea were created based on COI and 16S rRNA gene sequences to identify the genetic similarity and evolutionary relationship between B. straminea samples from China and South America. Results A total of 60 COI gene sequences with a length of 529 bp and 3 haplotypes were obtained from B. straminea sampled from China. There were 165 COI gene sequences of B. straminea retrieved from GenBank, and following alignment with the above 60 gene sequences, a total of 33 haplotypes were obtained. Phylogenetic analysis showed that the three haplotypes of B. straminea from China were clustered into one clade, among which the haplotype China11 and three B. straminea samples from Brazil retrieved from GenBank belonged to the same haplotype. Geographical evolution analysis showed that the B. straminea samples from three sampling sites along eastern coasts of Brazil had the same haplotype with China11, and B. straminea samples from other two sampling sites were closely, genetically related to China11. A total of 60 16S rDNA gene sequences with approximately 322 bp in length were amplified from B. straminea in China, with 2 haplotypes identified. A total of 70 16S rDNA gene sequences of B. straminea were captured from GenBank. Phylogenetic analysis showed that Biomphalaria snails collected from China were clustered into a clade, and the haplotype China64 and the haplotype 229BS from Brazil shared the same haplotype. The 49 16S rDNA gene sequences of B. straminea from 25 sampling sites in southern Brazil, which were captured from GenBank, were included in the present analysis, and the B. straminea from 3 sampling sites shared the same haplotype with China64 in China. Geographical evolution analysis based on COI and 16S rRNA gene sequences showed that B. straminea sampled from eastern coastal areas of Brazil shared the same haplotypes in two gene fragment sequences with Biomphalaria snails collected from China. Conclusions The Biomphalaria snails in China are characterized as B. straminea, which have a low genetic diversity. The Biomphalaria snails in China have a high genetic similarity with B. straminea sampled from eastern coastal areas of Brazil, which may have originated from the eastern coastal areas of Brazil.

Objective:To comprehensively analyze the clinical characteristics,classification of causes,treatment methods,and outcomes of pediatric convulsions in the emergency department,providing a scientific basis for the diagnosis and treatment of pediatric convulsions and optimizing emergency management for these cases.Methods:The clinical data of 18 217 children with convulsions in the emergency department of Capital Institute of Pediatrics' Children's Hospital from January 1,2016 to December 31,2020 were retrospectively analyzed.Results:A total of 18 217 children were admitted to the emergency department due to convulsions,accounting for 2.3% of all visits.Among them,58.7% cases were male and 41.3% cases were female,with an average age of (2.00±0.03) years.The main age was 1 to 3 years old (54.2%).Generalized convulsions were the primary type (82.3%),with focal seizures accounting for 17.7%.Most convulsions lasted less than 5 minutes (82.4%),and approximately 55.2% of the patients could self-resolve.Febrile convulsions were the primary cause (69.2%),followed by benign convulsions with mild gastroenteritis (11.7%) and epilepsy (10.5%).Regarding treatment,54.0% of the children recovered without medication.In the triage system of "three zones and four levels," the usage rate of anticonvulsants in the red zone was 93.1%,with 21.6% requiring combined treatment.After treatment,48.2% of the children returned home,92.2% showed improvement or recovery,and the mortality rate was extremely low at only 0.03%.Conclusion:Febrile convulsions are the main cause of pediatric convulsions in the emergency department,and an efficient triage system play an important role in improving treatment response.Different treatment zones and outcomes vary,providing important reference for optimizing emergency management.

Objective To investigate the expression of m6 A methyltransferase-like protein 14(METTL14)in the hippocampus of depression-like mice,and to provide a theoretical basis for further study of the molecular mecha-nism of depression and new drug targets.Methods 1)Twenty-four male C57BL/6J mice were divided into con-trol group and depression model group.The control group was fed normally,and the model group was kept in single animal cage for 4 months and added with Chronic Unpredictable Animal Stress(CUMS)to establish the depression-like model.2)After modeling,depression-like behaviors in model group were tested using forced swimming test(FST),sucrose preference test(SPT)and tail suspension test(TST).3)Twenty-four hours after completion of behavioral test,the hippocampus tissues of mice were collected,and the expression of m6 A methyltransferase-like protein METTL14 in the hippocampus of mice was detected by molecular biology experiments.Results 1)The mice in the model group showed significant depression-like behavior;2)The expression of MET-TL14 in the hippocampus of the model group showed an increased mRNA expression with the increased m6 A modifi-cation.3)In the model group,the expression of METTL14 in hippocampal CA1,CA3 and DG districts increased and there was neuronal damage found.Conclusions m6 A methylation function has been proved to be more active in the hippocampus of depressed mice.

Objective To evaluate the effect of manual massage on complications after endoscopic foam sclerotherapy injection for the treatment of internal hemorrhoids.Methods Consecutive 113 patients with grade Ⅰinternal hemorrhoids were prospectively enrolled and completed endoscopic foam sclerotherapy.The patients were randomly divided into a massage group(n=65)and a control group(n=68).Massage group performed manual perianal massage,Visual analogue scale(VAS)was used to evaluate perianal pain.The postoperative bleeding,short-term and long-term efficacy were also compared.Results The median VAS of 24 h postoperation was 1.0(0.0,3.0)in massage group,which was significantly lower than 2.0(1.0,4.0)in control group,the difference was statistically significant(P=0.014).The no bleeding rate of one week postoperation was 84.6％in massage group,which was significantly higher than 64.7％in control group,the difference was statistically significant(P=0.009).After 12 weeks,6 months and 12 months of follow-up,there were no significant differences in cure rate and remission rate between the two groups(P＞0.05).Conclusion Manual massage after endoscopic sclerosing agent injection is beneficial to relieve postoperative pain of grade Ⅰ internal hemorrhoids and reduce bleeding.

Objective:To evaluate the performance of the self-developed transcranial ultrasound patch probe as well as its stability and safety in clinical applications.Methods:This study was a cross-sectional study. Fifty healthy subjects in Tangdu Hospital from October to December 2023 were randomly and equally divided into two groups using a simple randomization method. The transcranial Doppler ultrasound (TCD) examinations were performed using the self-developed transcranial ultrasound patch probe and normal TCD probe alternatively in each group from squatting to sitting and then to standing posture. Two experienced sonographers (A, B) each completed one test for the same subject using the above two different probes. The differences of the ultrasound parameters of middle cerebral artery (MCA) blood flow measured by the self-developed transcranial ultrasound patch probe and the normal TCD probe in different postures (squatting, sitting, standing) were compared. At the same time, operator satisfaction with the use of the two probes was assessed in terms of time taken to obtain satisfactory images, operational comfort, and ease of handling. In addition, the subject's comfort during the examination was examined, and the signal acquisition stability of the two probes was comprehensively evaluated.Results:There was no significant difference in detection of various ultrasound parameters of MCA between using the transcranial patch probe and the normal TCD probe (all P>0.05). The overall satisfaction of transcranial ultrasound patch probe and normal TCD probe was quite similar. The transcranial ultrasound patch probe acquired favorable and stable signals. No subjects experienced adverse events/accidents during the examination of the subjects using the transcranial ultrasound patch probe as well as the normal TCD probe.Both probes had good and stable signal acquisition. Conclusions:TCD examinations could be well performed using the transcranial ultrasound patch probe, which might provide a potential new method for real-time monitoring and evaluating of cerebral blood flow of a moving subject.

Objective To systematically evaluate the real-life experience of stroke patients in the hospital-home transition period,and to provide a reference for better clinical development of transitional nursing practice.Methods We searched PubMed,Web of Science,Embase,CINAHL,Cochrane library,CNKI,Wanfang Data,VIP database,and China Biomedical Literature Database for qualitative studies on the real experience of stroke patients in the hospital-to-home transition period from the establishment of the database to October 2023.The quality of the literature was evaluated using the Joanna Brigg Institute(JBI)Australian Centre for Evidence-Based Health Care Quality Assessment Criteria for Qualitative Research(2016),and the results were integrated using meta-integration methods.Results A total of 14 studies were included,and 48 research results were extracted and 9 categories were summarized.The final synthesis included 3 integrated results:the discharge preparation period was in contradiction;after being discharged from the hospital,life changed dramatically and there was a variety of transition barriers;active response to illness and the experience of self-growth.Conclusion The hospital-home transition period for stroke patients is a critical period for patients'rehabilitation,and medical staff should strengthen the implementation of the transitional discharge plan,strengthen the connection between hospitals and families and communities,pay attention to the psychological experience of patients,so as to help stroke patients achieve a smooth transition from hospital to home.

BACKGROUND: Previous research demonstrated that a homozygous mutation of g.136372044G>A (S12N) in caspase recruitment domain family member 9 ( CARD9 ) is critical for producing Aspergillus fumigatus -induced ( Af -induced) T helper 2 (T H 2)-mediated responses in allergic bronchopulmonary aspergillosis (ABPA). However, it remains unclear whether the CARD9S12N mutation, especially the heterozygous occurrence, predisposes the host to ABPA. METHODS: A total of 61 ABPA patients and 264 controls (including 156 healthy controls and 108 asthma patients) were recruited for sequencing the CARD9 locus to clarify whether patients with this heterozygous single-nucleotide polymorphisms are predisposed to the development of ABPA. A series of in vivo and in vitro experiments, such as quantitative real-time polymerase chain reaction, flow cytometry, and RNA isolation and quantification, were used to illuminate the involved mechanism of the disease. RESULTS: The presence of the p.S12N mutation was associated with a significant risk of ABPA in ABPA patients when compared with healthy controls and asthma patients, regardless of Aspergillus sensitivity. Relative to healthy controls without relevant allergies, the mutation of p.S12N was associated with a significant risk of ABPA (OR: 2.69 and 4.17 for GA and AA genotypes, P = 0.003 and 0.029, respectively). Compared with patients with asthma, ABPA patients had a significantly higher heterozygous mutation (GA genotype), indicating that p.S12N might be a significant ABPA-susceptibility locus ( aspergillus sensitized asthma: OR: 3.02, P = 0.009; aspergillus unsensitized asthma: OR: 2.94, P = 0.005). The mutant allele was preferentially expressed in ABPA patients with heterozygous CARD9S12N , which contributes to its functional alterations to facilitate Af -induced T H 2-mediated ABPA development. In terms of mechanism, Card9 wild-type ( Card9WT ) expression levels decreased significantly due to Af -induced decay of its messenger RNA compared to the heterozygous Card9S12N . In addition, ABPA patients with heterozygous CARD9S12N had increased Af -induced interleukin-5 production. CONCLUSION Our study provides the genetic evidence showing that the heterozygous mutation of CARD9S12N , followed by allele expression imbalance of CARD9S12N , facilitates the development of ABPA.
Humans ; Aspergillosis, Allergic Bronchopulmonary/complications* ; Aspergillus fumigatus/genetics* ; Asthma/genetics* ; Aspergillus ; Mutation/genetics* ; CARD Signaling Adaptor Proteins/genetics*

This study was aimed to understand the current status of the antimicrobial resistance and molecular distribution of Campylobacter in various poultry in Jiaodong area,to provide a basis for effective prevention and control of the Campy-lobacter risk to poultry products and human health.Campylobacter was isolated and identified from 565 cloacal samples collect-ed in the Jiaodong area from August to October 2021 through conventional bacterial isolation and culture,mass spectrometry,microbroth dilution and multilocus sequence typing(MLST).The drug resistance and molecular typing of 131 representative strains(67 Campylobacter jejuni and 64 Campylobacter coli)were studied separately.Antimicrobial resistance analysis indica-ted that 131 isolates were highly resistant to ciprofloxacin,nalixic acid and tetracycline,with resistance rates of 96.21％,96.21％and 95.45％,respectively.Except for 2 strains,62 strains of C.coli were completely resistant to these three drugs(100％).A total of 65 strains of 131 strains were multidrug re-sistant,and the overall multidrug resistance rate was 49.62％,among which 11 strains(16.42％)of C.jejuni were resistance to 3-5 antibiotics,and 54 strains(84.38％)of C.coli were re-sistance to 3-6 antibiotics.Among the isolates from different poultry sources,waterfowl isolates were the most resistant,fol-lowed by broiler isolates.The MLST typing results revealed 72 alleles and 35 sequence types obtained from 67 strains of C.je-juni,and the distribution was relatively dispersed,without a dominant ST type and homologous complex.A total of 27 alleles and 19 sequence types were obtained from 64 strains of C.coli.Moreover,59.38％(38/64)strains were homologous complex CC-828,in which the ST-1586 sequence type was most frequent,followed by ST-825.ST-1586,ST-9944 and ST-3735 were the main sources of C.coli in broilers,and ST-825 and ST-1586 were the main sources of C.coli in waterfowl.Differences in C.jejuni and C.coli carriage were observed among poultry in the Jiaodong area.Carriage of the two bacteria was more common in laying hens than in broilers and waterfowl.C.jejuni from poultry in the Jiaodong area was highly resistant to ciprofloxacin,nalixic acid and tetracycline,but had good sensitivity to other drugs.C.coli was highly resistant to a variety of antibiotics,and multiple drug resistance was common.St-type dispersal of C.jejuni showed high genetic diversity.C.coli was cloned and transmitted mainly by ST-1586 in broiler chickens and waterfowl.Poultry carry C.jejuni,which can cause serious diseases in humans.Therefore,dynamic monitoring of Campylobacter from poultry should be strengthened.

Traumatic cerebrospinal fluid leakage commonly presents in traumatic brain injury patients, and it may lead to complications such as meningitis, ventriculitis, brain abscess, subdural hematoma or tension pneumocephalus. When misdiagnosed or inappropriately treated, traumatic cerebrospinal fluid leakage may result in severe complications and may be life-threatening. Some traumatic cerebrospinal fluid leakage has concealed manifestations and is prone to misdiagnosis. Due to different sites and mechanisms of trauma and degree of cerebrospinal fluid leak, treatments for traumatic cerebrospinal fluid leakage varies greatly. Hence, the Craniocerebral Trauma Professional Group of Neurosurgery Branch of Chinese Medical Association and the Neurological Injury Professional Group of Trauma Branch of Chinese Medical Association organized relevant experts to formulate the " Chinese expert consensus on the diagnosis and treatment of traumatic cerebrospinal fluid leakage in adults ( version 2023)" based on existing clinical evidence and experience. The consensus consisted of 16 recommendations, covering the leakage diagnosis, localization, treatments, and intracranial infection prevention, so as to standardize the diagnosis and treatment of traumatic cerebrospinal fluid leakage and improve the overall prognosis of the patients.