UNLABELLED: OBJECTIVE：To explore the clinical characteristics and genetic etiology of a child with CAKUTHED syndrome. METHODS: A child who was admitted to the neonatal department of Gansu Provincial Maternal and Child Health Care Hospital due to "neonatal asphyxia" in May 2021 was selected as the study subject. Genomic DNA was extracted from peripheral venous blood samples from the child and his parents, and whole exome sequencing (WES) was carried out. Sanger sequencing was used to verify the candidate variant of the PBX1 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the pathogenicity of candidate variants was rated. This study was approved by the Medical Ethics Committee of the Hospital [Ethics No.: 2021GSFY (65)]. RESULTS: The proband, a male neonate, manifested renal dysplasia, congenital heart disease, pulmonary dysplasia, mediastinal hernia, cryptorchidism, and clavicle dysplasia. WES revealed that he had harbored a heterozygous c.863G>A (p.Arg288Gln) missense variant in exon 6 of PBX1 gene, which resulted substitution of Arginine at position 288 by Glutamine, for which both parents were of the wild type. The variant was unreported previously and rated as pathogenic (PS2+PM1+PM2_Supporting+PP2+PP3) based on the ACMG guidelines. CONCLUSION The c.863G>A variant of the PBX1 gene probably underlay the pathogenesis in the proband. Above finding has enriched the mutational spectrum of the PBX1 gene.
Humans ; Male ; Pre-B-Cell Leukemia Transcription Factor 1/genetics* ; Phenotype ; Infant, Newborn ; Exome Sequencing ; Mutation, Missense ; Heart Defects, Congenital/genetics* ; Abnormalities, Multiple/genetics*

Thyroid nodules are a common endocrine disorder, and their early detection and accurate diagnosis are crucial for the prevention of thyroid cancer. However, the highly heterogeneous morphology and boundaries of thyroid nodules pose significant challenges to their precise identification and classification. Traditional diagnostic approaches rely heavily on physicians' experience, which increases the risk of misdiagnosis and missed diagnoses. With the rapid advancement of computer-aided diagnosis (CAD) technologies, applying deep learning algorithms to the analysis of thyroid nodule ultrasound images has shown great potential. This paper reviews the latest research progress on deep learning-based CAD methods for thyroid nodules, with a focus on their applications in image preprocessing, segmentation and classification. The advantages and limitations of current techniques are analyzed, and potential future directions are discussed. This review aims to highlight the potential of deep learning in thyroid nodule diagnosis and to provide a foundation for selecting feasible pathways for future clinical applications.
Humans ; Thyroid Nodule/diagnostic imaging* ; Deep Learning ; Ultrasonography/methods* ; Diagnosis, Computer-Assisted/methods* ; Algorithms ; Thyroid Neoplasms/diagnostic imaging* ; Image Processing, Computer-Assisted/methods*

Objective To evaluate the efficacy,safety and patient compliance of a quadruple therapy containing minocycline compared with the traditional quadruple therapy in the treatment of Helicobacter(H.)pylori.Methods This study included 200 H.pylori positive patients,with 100 assigned to the minocycline-containing bismuth quadruple therapy group(LBMC group)and the other 100 to the amoxicillin-containing bismuth quadruple therapy group(LBAC group).After matching the two groups of patients using the propensity score matching(PSM)method,there were 86 cases in each group.Telephone follow-up was conducted on the 14th day after the start of treatment to record patient medication compliance and adverse drug reactions.A 13C urea breath test was performed for re-examination at least one month after completing the treatment plan and discontinuing medication.The intention-to-treat(ITT)and per-protocol(PP)analyses were used to compare the H.pylori eradication rates between the two groups,and Chi-square test and t-test were used for intergroup comparison.Results In the ITT analysis,the eradication rates of the LBMC group and the LBAC group were 89.5%(77/86,95%CI:82.9%～96.1%)and 82.6%(71/86,95%CI:74.4%～90.7%),respectively.In the PP analysis,the eradication rates were 92.6%(75/81,95%CI:86.8%～98.4%)and 88.8%(71/80,95%CI:81.7%～95.8%),respectively.The adverse reaction rate of the LBMC group was 27.9%(24/86),and that of the LBAC group 31.4%(27/86),showing no statistically significant difference(P>0.05).In terms of compliance,the LBMC group was 94.2%(81/86),and the LBAC group 93.0%(80/86),revealing no statistically significant difference(P>0.05).Conclusion As a first-line treatment for eradicating H.pylori,regimens containing minocycline demonstrate equivalent eradication rates to those containing amoxicillin,with similar safety and compliance.They can be used as an alternative treatment for patients allergic to penicillin.

ObjectiveTo improve the efficacy of Astragalus membranaceus (Fisch.) Bunge (A. membranaceus, Huang Qi), and to further develop and utilize it, fermentation technology was applied to the stem and leaf of A. membranaceus to enhance its immune function.MethodsIn this study, we fermented A. membranaceus stem and leaf (ASL) with probiotics and investigated its immune function. Firstly, we screened suitable strains for ASL fermentation and optimized the fermentation process. Secondly, we determined the antioxidant capacity of fermented ASL and its effect on inflammation in mouse monocyte-macrophage cell. Finally, the immunocompromised mice were treated with fermented ASL to investigate the changes in their immune ability.ResultsAmong the 10 selected probiotics, Lactobacillus plantarum was the most suitable strain for ASL fermentation. After optimization of the fermentation process, the content of saponins in fermented ASL was significantly increased. The fermented ASL exhibited strong anti-inflammatory and antioxidant activities in vitro. The in vivo immune efficacy improved by promoting the development of the spleen and thymus, as well as raising the immunoglobulin M, tumor necrosis factor-α, and interleukin-1β levels of in the serum.ConclusionThis study contributes to developing the non-medicinal parts of A. membranaceus, expands its medicinal resources, highlights the potential of fermentation technology to enhance these parts, and provides a reference for further development. Based on this approach, we can promote using non-medicinal parts of herbal medicines, minimize drug waste, and offer a reference for developing non-medicinal components in Chinese herbal medicines.

Objective To analyze the clinical manifestations and genetic etiology of three families with hereditary spastic paraplegia(HSP).Methods Gene analysis was performed on patients of the three HSP families from the Gansu Provincial Maternity and Child-care Hospital.Results The proband of family 1 was autosomal recessive spastic paraplegia type 35 caused by homozygous variant c.159_176delGGCGGGCCAGGACATCAG(p.Arg53_Ser59delinsSer)in FA2H.The proband in family 2 was autosomal recessive spastic paraplegia type 47 caused by homozygous variant c.1399G>T(p.Glu467Ter)in AP4B1,and the proband in family 3 was autosomal recessive spastic paraplegia type 11 caused by homozygous variation c.7023C>G(p.Tyr2341Ter)in SPG11.Among them,the variant c.1399G>T(p.Glu467Ter)of AP4B1 is a novel variant,that has not been reported before,according to the ACMG guidelines,the pathogenicity of this variant is pathogenic.Conclusion This study has expanded the variant spectrum of AP4B1 which provides basic data to improve clinical understanding and diagnostic capabilities of HSP patients.

The ultrasound probe is the most important accessory in ultrasound equipment,which adopted the piezoelectric vibrator as its core component,and it can complete ultrasonic emission and receiving echoes.A deep understanding for the operational characteristics of the probe's array elements is important premise that user can accurately judge the running situation of the probe.This study employed pulse-echo technique to detect sensitivity and capacitance of the array elements of ultrasonic probe.The detected data of 60 probes at China-Japan Friendship Hospital were collected,and 75%of the 60 probes existed residual couplant,and 80%of them existed indentation or damage to the outer skin.The tested results of leakage current indicated that 1 probe(1.7%)existed excessively high leakage current.In test for array elements,2 probes(3.4%)displayed partial damage at array elements,and 6 probes(10.2%)were irreparably damaged.The preventive test for the diagnostic equipment with ultrasound is helpful to establish a quality control system for ultrasound,and to provide analysis materials with reliability in using diagnostic equipment with ultrasound,and to also provide decision-making basis for equipment departments and clinical department of using equipment in hospital.

Objective To explore the application effect of the"ASK-T"aspiration prevention management model in reducing the risk of aspiration in elderly patients with chronic obstructive pulmonary disease(COPD)complicated by dysphagia.Methods 196 of 409 COPD patients with aspiration risk admitted to the Respiratory Disease Department of Guangdong Provincial Hospital of Chinese Medicine,Higher Education Mega Center Hospital from July 2021 to June 2024 were selected as the study object,and 102 COPD patients with aspiration risk admitted from July 2021 to December 2022 were set as the pre-improvement group.The patients in this group received the original nursing process and management mode of the department during hospitalization.94 COPD patients with aspiration risk admitted from January 2023 to June 2024 were set as the improved group,and the patients in this group were introduced into the department and implemented an innovative improvement project:"ASK-T"anti-aspiration management mode and then received nursing management.Patients in both groups were observed and followed up for 4 weeks.The risk grade of aspiration,SSA score,DHI score,aspiration pneumonia and aspiration pneumonia,nutritional status and satisfaction after intervention were compared between the two groups.Result in the improved group was significantly lower than that in the pre-improvement group(P<0.05),and the SSA score,DHI score and total DHI score of patients in the 2 groups were significantly lower than that before intervention(P<0.05).The SSA score,DHI score and DHI total score in the improved group were lower than those in the pre-improved group(P<0.05).The results of 4-week follow-up showed that the scores of NRS-2002 for nutritional risk screening in 2 groups were lower than before intervention(P<0.05),and the scores of NRS-2002 for nutritional risk screening in the improved group were significantly lower than those in the pre-improvement group(P<0.05).The comparison showed that the incidence of aspiration and aspiration pneumonia in the improved group was lower than that in the pre-improved group(P<0.05),and the satisfaction score of patients with the relevant preventive measures was higher than that in the pre-improved group(P<0.05).Conclusion The"ASK-T"aspiration preven-tion management model,when applied in the nursing of elderly patients with COPD complicated by dysphagia,can significantly reduce the risk of aspiration and the incidence of aspiration pneumonia,effectively improve patients' swallowing function and quality of life,and enhance their nutritional status.Furthermore,this model significantly improves patient satisfaction with intervention measures,providing a scientific and effective management strategy for clinical nursing of elderly patients with COPD complicated by dysphagia.It is worthy of promotion and application in clinical practice.

Fatty liver is common disease of nutritional metabolism in the perinatal period,character-ized by elevated levels of NEFA in the blood and disorders of lipid metabolism.High concentra-tions of NEFA damage mitochondria and promote the release of reactive oxygen species(ROS).At the same time,lipid peroxidation occurs in lipid accumulation in hepatocytes,producing free radi-cals such as ROS,which leads to oxidative stress in the liver.When the level of intracellular ROS increases,thioredoxin-interacting protein(TXNIP)activates nucleotide-binding oligomerization structure-like protein 3(NLRP3)inflammasomes,and oxidative stress can regulate pyroptosis,but it is unclear whether reactive oxygen species(ROS)produced by oxidative stress in hepatocytes can mediate pyroptosis and induce liver injury in dairy cows through the TXNIP/NLRP3 pathway.In this study,liver tissue samples from healthy dairy cows and fatty liver cows were collected,and NEFA was used to construct a fatty liver cell model,and triglyceride(TG)content and oxidative stress related indicators were detected by kit.Western blot was used to detect the activation of NL-RP3 inflammasomes,the inflammatory pathway of NF-κB and the expression levels of pyroptosis-related proteins.Fluorescence quantitative PCR was used to detect the relative expression level of inflammatory factor mRNA.The results showed that compared with the healthy(control)group,the TG content of fatty liver tissue and fatty liver cells was significantly increased(P＜0.05),the activities of SOD and GSH-Px were significantly decreased(P＜0.05),and the protein expression levels of TXNIP,NLRP3,GSDMD-N and Caspase-1 were significantly up-regulated(P＜0.05).The results of the antioxidant model of fatty hepatocytes using NEFA and antioxidants(NAC)showed that compared with the fatty hepatocyte model,the content of ROS in hepatocytes was sig-nificantly reduced,and oxidative stress,NLRP3 inflammasome activation and pyroptosis were alle-viated.In summary,this study found that when fatty liver disease occurs in dairy cows,ROS pro-duced by oxidative stress in the liver can mediate pyroptosis through the TXNIP/NLRP3 path-way,which can lead to liver injury in fatty liver cows.

Objective To explore the effect of lipoprotein a[Lp(a)]on the inflammatory state and cardiovascular system of patients with essential hypertension.Methods The clinical data of 234 patients with essential hypertension admitted from January 2022 to November 2023 were retrospectively collected.According to the serum Lp(a)concentration,they were divided into the normal Lp(a)group(n=185)and the high Lp(a)group(n=49).The differences in serum inflammatory markers C reactive protein(CRP),neutrophil-to-lymphocyte ratio(NLR),and fibrinogen between the two groups were compared.Pearson correlation analysis was used to analyze the correlation between Lp(a)and inflammatory markers,and the incidence of cardiac target organ damage between the two groups of patients was compared.Results Compared with the normal Lp(a)group,the CRP concentration,NLR and fibrinogen concentration of hypertensive patients in the high Lp(a)group increased(P<0.05,P<0.01),and the concentration of Lp(a)was positively correlated with CRP,NLR and fibrinogen(r=0.168,0.165,0.321,P<0.05).The incidence of myocardial infarction was higher in the high Lp(a)group[22.45%(11/49)]than in the normal Lp(a)group[7.57%(14/185)](P<0.01).Conclusion In patients with essential hypertension,high Lp(a)concentration is associated with a stronger inflammatory response,and elevated Lp(a)concentration is related to an increased incidence of myocardial infarction,suggesting that Lp(a)may affect target organ damage in patients with essential hypertension by promoting inflammation.

Objective To explore the effect of lipoprotein a[Lp(a)]on the inflammatory state and cardiovascular system of patients with essential hypertension.Methods The clinical data of 234 patients with essential hypertension admitted from January 2022 to November 2023 were retrospectively collected.According to the serum Lp(a)concentration,they were divided into the normal Lp(a)group(n=185)and the high Lp(a)group(n=49).The differences in serum inflammatory markers C reactive protein(CRP),neutrophil-to-lymphocyte ratio(NLR),and fibrinogen between the two groups were compared.Pearson correlation analysis was used to analyze the correlation between Lp(a)and inflammatory markers,and the incidence of cardiac target organ damage between the two groups of patients was compared.Results Compared with the normal Lp(a)group,the CRP concentration,NLR and fibrinogen concentration of hypertensive patients in the high Lp(a)group increased(P<0.05,P<0.01),and the concentration of Lp(a)was positively correlated with CRP,NLR and fibrinogen(r=0.168,0.165,0.321,P<0.05).The incidence of myocardial infarction was higher in the high Lp(a)group[22.45%(11/49)]than in the normal Lp(a)group[7.57%(14/185)](P<0.01).Conclusion In patients with essential hypertension,high Lp(a)concentration is associated with a stronger inflammatory response,and elevated Lp(a)concentration is related to an increased incidence of myocardial infarction,suggesting that Lp(a)may affect target organ damage in patients with essential hypertension by promoting inflammation.