Objective:To evaluate the value of ultrasound radiomics combined with machine learning for early diagnosis of seronegative Hashimoto’s thyroiditis (SN-HT) .Methods:This retrospective study included 164 patients from Liaoning Provincial People’s Hospital , Lixin County People’s Hospital, Linghai Dalinghe Hospital, Fengcheng Phoenix Hospital, who underwent thyroidectomy for solitary nodules with normal thyroid function between Nov. 2016 and Jan. 2024. Postoperative pathology confirmed Hashimoto’s thyroiditis (HT) in some cases, who were further categorized into antibody-positive and antibody-negative groups based on serum antibody status. Patients without Hashimoto’s thyroiditis served as the control group. A total of 298 ultrasound images were analyzed. Radiomics features were extracted from hypoechoic non-nodular areas within 0.5 cm surrounding the tumor. Two senior pathologists and two senior ultrasound physicians independently assessed lymphocytic infiltration, eosinophilic changes of follicular epithelium, and the proportion of hypoechoic areas in pathology and ultrasound images, respectively. A machine learning model, CCH-NET, was developed using linear regression and t-distributed stochastic neighbor embedding (t-SNE) techniques. The dataset was divided into a training set (80%) and a validation set (20%) to compare the diagnostic accuracy of CCH-NET with that of senior ultrasound physicians. Results:In internal validation, CCH-NET achieved a diagnostic accuracy of 88.89% for both antibody-positive and antibody-negative groups, significantly higher than the 66.67% accuracy of senior ultrasound physicians ( P<0.01). In external validation, CCH-NET achieved 75.00% and 66.67% accuracy for the two groups, compared to 50.00% by senior ultrasound physicians. For the control group, both methods achieved 93.33% accuracy. The AUC of CCH-NET was 0.848, outperforming senior ultrasound physicians (0.681) ,demonstrating superior diagnostic performance. Conclusion:The radiomics-based CCH-NET model, using non-nodular hypoechoic areas as a specific indicator, can accurately identify early SN-HT in euthyroid patients. It significantly outperforms senior ultrasound physicians, improving diagnostic accuracy and reducing missed diagnoses.

Objective:To evaluate the value of ultrasound radiomics combined with machine learning for early diagnosis of seronegative Hashimoto’s thyroiditis (SN-HT) .Methods:This retrospective study included 164 patients from Liaoning Provincial People’s Hospital , Lixin County People’s Hospital, Linghai Dalinghe Hospital, Fengcheng Phoenix Hospital, who underwent thyroidectomy for solitary nodules with normal thyroid function between Nov. 2016 and Jan. 2024. Postoperative pathology confirmed Hashimoto’s thyroiditis (HT) in some cases, who were further categorized into antibody-positive and antibody-negative groups based on serum antibody status. Patients without Hashimoto’s thyroiditis served as the control group. A total of 298 ultrasound images were analyzed. Radiomics features were extracted from hypoechoic non-nodular areas within 0.5 cm surrounding the tumor. Two senior pathologists and two senior ultrasound physicians independently assessed lymphocytic infiltration, eosinophilic changes of follicular epithelium, and the proportion of hypoechoic areas in pathology and ultrasound images, respectively. A machine learning model, CCH-NET, was developed using linear regression and t-distributed stochastic neighbor embedding (t-SNE) techniques. The dataset was divided into a training set (80%) and a validation set (20%) to compare the diagnostic accuracy of CCH-NET with that of senior ultrasound physicians. Results:In internal validation, CCH-NET achieved a diagnostic accuracy of 88.89% for both antibody-positive and antibody-negative groups, significantly higher than the 66.67% accuracy of senior ultrasound physicians ( P<0.01). In external validation, CCH-NET achieved 75.00% and 66.67% accuracy for the two groups, compared to 50.00% by senior ultrasound physicians. For the control group, both methods achieved 93.33% accuracy. The AUC of CCH-NET was 0.848, outperforming senior ultrasound physicians (0.681) ,demonstrating superior diagnostic performance. Conclusion:The radiomics-based CCH-NET model, using non-nodular hypoechoic areas as a specific indicator, can accurately identify early SN-HT in euthyroid patients. It significantly outperforms senior ultrasound physicians, improving diagnostic accuracy and reducing missed diagnoses.

Objective:To investigate the clinical features, molecular etiology, and treatment of a family with Treacher Collins Syndrome 2 (TCS2).Methods:Information of the proband (female, 8 years old) including medical history and family history was collected. Physical examination and examinations concerning laboratory, audiology, and radiology were performed on the proband. Physical examination was also performed on the family members. Genomic DNA of proband was extracted for whole exome sequencing, and then the genomic DNA of family members was extracted for Sanger sequencing. POLR1D and TCS2 related literatures published before August 31,2023 were searched and sifted in PubMed and CKNI databases. The clinical characteristics of TCS2 were summarized. Results:The proband had poor hearing since childhood, with pure tone audiometry indicating conductive hearing loss. She had a smaller jaw, bilateral preauricular fistulas and cup-shaped ear deformities. Temporal bone CT scan revealed deformities in the left external ear canal, bilateral middle ear and inner ear. A bone-conduction hearing aid device was surgically implanted, resulting in restoration of almost normal hearing levels. The proband′s mother also had a slightly smaller jaw. Genetic analysis revealed a novel heterozygous variant NM_015972.4:c.38_47del in the POLR1D gene in the proband, which was inherited from her mother. A review of the literature revealed no clear evidence of genotype-phenotype correlation in TCS2. Conclusions:Molecular diagnosis plays a vital role in the diagnosis of TCS2. Patients with normal facial phenotype may be carriers of pathogenic variants in the POLR1D gene and have the risk of passing it to the offsprings with complete penetrance. Proper bone conductive hearing devices can improve the quality of life of TCS2 patients.

Objective To study the causes of two Chinese families with Branchio-oto syndrome.Methods The clinical data of two families were collected,and the pathogenic genes and variants of Branchio-oto syndrome were screened and verified by whole exome sequencing and Sanger sequencing.Results Two proband patients were diagnosed with Branchio-oto syndrome.Proband 1 presented with preauricular and anterior cervical fistulas,as well as congenital severe sensorineural hearing loss.On the other hand,proband 2 displayed a preauricular fistula and an anterior cervical cyst.At the age of 5,progressive deterioration of binaural hearing was observed,leadingtothe cur-rent diagnosis of severe mixed deafness.Genetic analysis showed that proband 1 and 2 carried nonsense variants of EYA1 gene:NM_000503.6:c.1408G＞T(p.Glu470Ter),and c.889C＞T(p.Arg297Ter).According to the guide-lines of the American College of Medical Genetics and Genomics(ACMG),the above variants were rated as patho-genic variants.After reviewing the literature,the c.1408G＞T variant had not been previously reported,and the c.889C＞T is a known variant.Conclusion The variants c.1408G＞T(p.Glu470Ter)and c.889C＞T(p.Arg297Ter)of EYA1 gene are the cause of these two families with Branchio-oto syndrome.The first report of c.1408G＞T broadens the mutational spectrum of EYA1 gene and provids a clinical reference for the diagnosis of Branchio-oto syndrome.

Background:The diversity and function of gut microbiota have been regarded as crucial factors affecting human health.With the advances in genetics and epidemiology,especially the application of Mendelian randomization analysis,a novel perspective has been provided for profoundly uncovering the causal relationship between gut microbiota and duodenal ulcer.Aims:To investigate the causal relationship between gut microbiota and duodenal ulcer through two-sample Mendelian randomization analysis.Methods:Genetic variation samples of the gut microbiota were screened from the MiBioGen database.Genetic loci related to duodenal ulcer were selected as instrumental variables from genome-wide association study.The inverse-variance weighted method,weighted median method,and MR-Egger regression analysis were used to assess the causal relationship between gut microbiota and duodenal ulcer.Tests for heterogeneity and horizontal pleiotropy were conducted to ensure the stability of the results.Results:Bacteroides(OR=0.998,95%CI:0.996-1.000,P=0.014),Prevotella_7(OR=0.999,95%CI:0.998-1.000,P=0.043)and Terrisporobacter(OR=0.998,95%CI:0.997-1.000,P=0.029)exhibited negative causal relationship with duodenal ulcer,while Bifidobacterium(OR=1.001,95%CI:1.000-1.003,P=0.046),Lachnoclostridium(OR=1.002,95%CI:1.001-1.004,P=0.007)and Olsenella(OR=1.001,95%CI:1.000-1.002,P=0.018)presented positive causal relationship with duodenal ulcer.The sensitivity analysis indicated that the influences of heterogeneity and horizontal pleiotropy on the causal relationship could be excluded.Conclusions:The two-sample Mendelian randomization analysis revealed that Bacteroides,Prevotella_7 and Terrisporobacter were protective factors for duodenal ulcer,while Bifidobacterium,Lachnoclostridium and Olsenella were risk factors.

ObjectiveTo observe the clinical efficacy of modified Zuojinwan granules in treating reflux esophagitis （RE） and functional dyspepsia （FD） with the same syndrome with disharmony between liver and stomach）. MethodA randomized double-blind placebo-controlled clinical trial was conducted to enroll 144 patients with disharmony between liver and stomach， including 72 patients with RE and 72 patients with FD. These patients were then randomly divided into observation and control groups， with 36 patients in each group. The observation group was given modified Zuojinwan granules orally， and the control group was given placebo granules orally. They both were treated with two packs each time， twice a day， for four weeks. The traditional Chinese medicine （TCM） syndrome scores， cerebrointestinal peptides ［calcitonin gene-associated titanium （CGRP）， vasoactive intestinal peptide （VIP）， 5-hydroxytryptamine （5-HT）， and substance P （SP）］， inflammatory factors ［tumor necrosis factor-α （TNF-α） and interleukin-6 （IL-6）］， common gastrointestinal related hormones ［gastrin （GAS） and motilin （MTL）］， and other indicators in the two groups were compared before and after treatment， and the curative effect of TCM syndromes and the occurrence of adverse reactions were determined. At the same time， the changes in the above indicators and the curative effect of TCM syndromes in the two groups of patients with the same disease were analyzed. ResultAfter treatment， CGRP， VIP， 5-HT， SP， TNF-α， IL-6， GAS， MTL， and TCM syndrome scores in the observation group and control group were significantly improved （P<0.05）. After treatment， the improvement of CGRP， VIP， 5-HT， SP， TNF-α， IL-6， GAS， MTL， and TCM syndrome scores in the observation group was better than that in the control group （P<0.05）. After treatment， CGRP， VIP， 5-HT， SP， TNF-α， IL-6， GAS， MTL， and TCM syndrome scores in both groups of RE patients and FD patients were significantly improved （P<0.05）. After treatment， the improvement of CGRP， VIP， 5-HT， SP， TNF-α， IL-6， GAS， MTL， and TCM syndrome scores in RE patients and FD patients in the observation group were better than that in the control group （P<0.05）. In the observation group and the control group， the incidence of nausea， vomiting， fatigue， dry mouth， and other adverse reactions was lower， and there was no statistical significance. ConclusionModified Zuojinwan granules can effectively improve the TCM syndromes of disharmony between liver and stomach of RE and FD， brain and intestinal peptide， gastrointestinal hormone， and inflammatory factors and provide evidence for the clinical application of TCM theory of "treating different diseases with the same method".

Objective:To investigate the correlation between fat distribution and the composite indices of femoral neck strength in obese postmenopausal women.Methods:A total of 293 postmenopausal women with non-low body weight were selected, laboratory tests, body composition analyzer test and double-energy X-ray absorptiometry scan were performed. Based on the body mass index(BMI), they were divided into three groups, the normal BMI group(18.5 kg/m 2≤BMI<24.0 kg/m 2, n=91), the overweight group(24.0 kg/m 2≤BMI<28.0 kg/m 2, n=115), and the obese group(BMI≥28.0 kg/m 2, n=87). The measurement results were analyzed. Results:In the obese group, bone mineral density(BMD) of all sites was higher than that in the normal BMI group and overweight group( P<0.005), compression strength index(CSI), bending strength index(BSI), and impact strength index(ISI) were significantly lower than those in the normal BMI group( P<0.001, P=0.008, P=0.001). In the obese group, waist circumference, waist-hip ratio, total fat mass, appendicular fat mass, and trunk fat mass were risk factors for CSI, BSI and ISI independent of age, fasting blood glucose, and BMI( P<0.05). Visceral fat grade and Chinese visceral adiposity fat index were the risk factors for CSI, BSI, and ISI( P<0.05). Conclusion:The composite indices of femoral neck strength decreased in obese postmenopausal women, and both subcutaneous fat and visceral fat were negatively associated with the composite indices of femoral neck strength.

Streptococcus parasuis(S.parasuis)is a close relative of S.suis and can cause meningi-tis,pneumonia or systemic symptoms in affected animals.In this paper,the dominant strain was i-solated from diseased pigs with pneumonia in Jilin,China,and the isolated strain was identified as S.parasuis by 16S rRNA,it was named WYF-8B.Resistance was tested by the susceptibility tablet diffusion method,and WYF-8B was resistant to bacitracin,sulfamethoxoprim,lincomycin,erythro-mycin,fosfamycin,azithromycin,penicillin,doxycycline,cotrimotrixazole,sulfamisoxazole,cipro-floxacin,enrofloxacin,tetracycline,benzoxacillin,gentamicin,efazolin,and ampicillin.It was highly sensitive to florfenicol,chloramphenicol.Iochemical identification revealed that WYF-8B could fer-ment salicylic acid,maltose,lactose,sucrose,oxaesin,and glucose;nonfermentable mannitol,urea,raffinose,xylose,arabinose,and sorbitol.Using the second-generation whole-genome sequencing technology to study the WYF-8B resistant genotype,it was found that it carried the macrolide anti-biotic resistance genes Mef(E)and ErmB;resistance genes pbp2b,pbp1a,and pbp2x to β-lactam antibiotics;resistance genes gyrA,parC,and grlB to fluoroquinolones;resistance genes ANT(6)-Ia,AAC(6')-Ie-APH(2')-Ia,ANT(9)-Ia,APH(3')-Ⅲa to aminoglycoside antibiotics;re-sistance groups lnuB,lmrC,lmrD against lincomide antibiotics;resistance gene tetM to tetracy-cline antibiotics;the resistance gene of bacitracin,bcrA.The results found that the resistance phe-notype matches the resistance genotype of the sequencing results.The study of WYF-8B virulence factors found that WYF-8B carried 13 virulence factors(pavA,fbp 54,clpP,cps 4,cps 4 I,wbtB,cps,sI,tufA,galE,hasC,groEL,wrbtL,wbbtF),which mainly acted to promote bacterial diffu-sion,transfer,settlement,antiphagocytosis and immune evasion.The results of drug sensitivity test provide a reference for the study of clinical medication of S.parasuis,and drug resistance pheno-type and virulence factors lay the foundation for the research and development of new drugs and vaccines.

Background:The diversity and function of gut microbiota have been regarded as crucial factors affecting human health.With the advances in genetics and epidemiology,especially the application of Mendelian randomization analysis,a novel perspective has been provided for profoundly uncovering the causal relationship between gut microbiota and duodenal ulcer.Aims:To investigate the causal relationship between gut microbiota and duodenal ulcer through two-sample Mendelian randomization analysis.Methods:Genetic variation samples of the gut microbiota were screened from the MiBioGen database.Genetic loci related to duodenal ulcer were selected as instrumental variables from genome-wide association study.The inverse-variance weighted method,weighted median method,and MR-Egger regression analysis were used to assess the causal relationship between gut microbiota and duodenal ulcer.Tests for heterogeneity and horizontal pleiotropy were conducted to ensure the stability of the results.Results:Bacteroides(OR=0.998,95%CI:0.996-1.000,P=0.014),Prevotella_7(OR=0.999,95%CI:0.998-1.000,P=0.043)and Terrisporobacter(OR=0.998,95%CI:0.997-1.000,P=0.029)exhibited negative causal relationship with duodenal ulcer,while Bifidobacterium(OR=1.001,95%CI:1.000-1.003,P=0.046),Lachnoclostridium(OR=1.002,95%CI:1.001-1.004,P=0.007)and Olsenella(OR=1.001,95%CI:1.000-1.002,P=0.018)presented positive causal relationship with duodenal ulcer.The sensitivity analysis indicated that the influences of heterogeneity and horizontal pleiotropy on the causal relationship could be excluded.Conclusions:The two-sample Mendelian randomization analysis revealed that Bacteroides,Prevotella_7 and Terrisporobacter were protective factors for duodenal ulcer,while Bifidobacterium,Lachnoclostridium and Olsenella were risk factors.

Objective:To investigate the epidemiology of pathogens of acute respiratory tract infection (ARTI) in children in Guangzhou area.Methods:A total of 13 610 hospitalized children with ARTI in Guangzhou Women and Children′s Medical Center from January 2018 to December 2021 were enrolled. Throat swab specimens were collected, and fluorescent quantitative polymerase chain reaction (PCR) was performed to detect 11 respiratory pathogens, including respiratory syncytial virus (RSV), adenovirus (ADV), parainfluenza virus (PIV), human rhinovirus (HRV), human bocavirus (HBoV), human metapneumovirus (HMPV), enterovirus (EV), influenza A virus (IFA), influenza B virus (IFB), Mycoplasma pneumoniae (MP) and Chlamydia pneumoniae (CP). Grouping according to age (< one year group, one to < three years group, three to < six years group, six to 14 years group) and season. Chi-square test was used for statistical analysis. Results:At least one pathogen was detected in 6 331 cases among 13 610 patients, and the overall positive rate was 46.52%. The detection rates from high to low were as follows: RSV (13.75%(1 872/13 610)), ADV (4.82%(656/13 610)), PIV (4.82%(656/13 610)), MP (4.54%(618/13 610)), HRV (3.39%(462/13 610)), HBoV (2.64%(359/13 610)), HMPV (2.59%(352/13 610)), EV (1.76%(239/13 610)), IFA (1.29%(176/13 610)), IFB (0.90%(122/13 610)) and CP (0.30%(41/13 610)). The positive rate of viral detection showed significant differences among different age groups ( χ2=49.91, P<0.001), and the highest positive rate was in the age group of one to