Objective To summarize the clinical and genetic characteristics of children with sodium taurocholate co-transporting polypeptide(NTCP)deficiency.Methods Clinical data of children with NTCP deficiency diagnosed and treated at the First People's Hospital of Yunnan Province from July 2022 to March 2025 were retrospectively analyzed.Results A total of 14 children were included(6 males,8 females),all with normal growth and development.Reasons for initial consultation included elevated serum bile acids in 7 cases,jaundice in 4 cases,cholestatic hepatitis in 1 case,and one case each of pneumonia and cow's milk protein allergy.At the first visit,all patients had elevated serum total bile acids beyond the normal range,with a mean of 152.5 μmol/L.Elevated alanine aminotransferase was observed in 1 case,elevated aspartate aminotransferase in 2 cases,and elevated total bilirubin in 10 cases.Genetic sequencing revealed that all children carried the homozygous SLC10A1 variant c.800C>T(p.Ser267Phe),classified as likely pathogenic.Conclusions NTCP deficiency often lacks obvious clinical symptoms and signs.Some children present with transient hyperbilirubinemia,cholestasis,or other liver function abnormalities.Persistent isolated elevation of serum bile acids warrants suspicion for this disease.Biallelic pathogenic variants in SLC10A1 constitute the basis for definitive diagnosis.There is no specific treatment for this disease,and management is mainly symptomatic.

OBJECTIVES: To evaluate the safety and efficacy of thiotepa (TT)-containing conditioning regimens for allogeneic hematopoietic stem cell transplantation (HSCT) in children with inborn errors of immunity (IEI). METHODS: Clinical data of 22 children with IEI who underwent HSCT were retrospectively reviewed. Survival after HSCT was estimated using the Kaplan-Meier method. RESULTS: Nine patients received a traditional conditioning regimen (fludarabine + busulfan + cyclophosphamide/etoposide) and underwent peripheral blood stem cell transplantation (PBSCT). Thirteen patients received a TT-containing modified conditioning regimen (TT + fludarabine + busulfan + cyclophosphamide), including seven PBSCT and six umbilical cord blood transplantation (UCBT) cases. Successful engraftment with complete donor chimerism was achieved in all patients. Acute graft-versus-host disease occurred in 12 patients (one with grade III and the remaining with grade I-II). Chronic graft-versus-host disease occurred in one patient. The incidence of EB viremia in UCBT patients was lower than that in PBSCT patients (P<0.05). Over a median follow-up of 36.0 months, one death occurred. The 3-year overall survival (OS) rate was 100% for the modified regimen and 88.9% ± 10.5% for the traditional regimen (P=0.229). When comparing transplantation types, the 3-year OS rates were 100% for UCBT and 93.8% ± 6.1% for PBSCT (P>0.05), and the 3-year event-free survival rates were 100% and 87.1% ± 8.6%, respectively (P>0.05). CONCLUSIONS TT-containing conditioning for allogeneic HSCT in children with IEI is safe and effective. Both UCBT and PBSCT may achieve high success rates.
Humans ; Retrospective Studies ; Transplantation Conditioning/methods* ; Thiotepa/therapeutic use* ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Male ; Female ; Child, Preschool ; Infant ; Child ; Transplantation, Homologous ; Graft vs Host Disease ; Adolescent

Objective To summarize the clinical and genetic characteristics of children with sodium taurocholate co-transporting polypeptide(NTCP)deficiency.Methods Clinical data of children with NTCP deficiency diagnosed and treated at the First People's Hospital of Yunnan Province from July 2022 to March 2025 were retrospectively analyzed.Results A total of 14 children were included(6 males,8 females),all with normal growth and development.Reasons for initial consultation included elevated serum bile acids in 7 cases,jaundice in 4 cases,cholestatic hepatitis in 1 case,and one case each of pneumonia and cow's milk protein allergy.At the first visit,all patients had elevated serum total bile acids beyond the normal range,with a mean of 152.5 μmol/L.Elevated alanine aminotransferase was observed in 1 case,elevated aspartate aminotransferase in 2 cases,and elevated total bilirubin in 10 cases.Genetic sequencing revealed that all children carried the homozygous SLC10A1 variant c.800C>T(p.Ser267Phe),classified as likely pathogenic.Conclusions NTCP deficiency often lacks obvious clinical symptoms and signs.Some children present with transient hyperbilirubinemia,cholestasis,or other liver function abnormalities.Persistent isolated elevation of serum bile acids warrants suspicion for this disease.Biallelic pathogenic variants in SLC10A1 constitute the basis for definitive diagnosis.There is no specific treatment for this disease,and management is mainly symptomatic.

Objective To explore the clinical value of red blood cell volume distribution width coefficient of variation(RDW-CV),serum interleukin-11(IL-11)and interleukin-31(IL-31)in the diagnosis of interstitial lung disease(ILD).Methods Prospectively selected 46 ILD patients admitted to the Department of Respiratory and Critical Care Medicine,the Affiliated Hospital of Chengde Medical University from November 2022 to October 2023 were set as ILD group,40 patients with community-acquired pneumonia(CAP)as CAP group,and 35 healthy examiners as control group.The ILD group was further divided into idiopathic interstitial pneumonia(IIP)subgroup(n=30)and connective tissue disease-related ILD(CTD-ILD)subgroup(n=16)based on clinical diagnosis.General and clinical data of each group were recorded,and RDW-CV and serum IL-11 and IL-31 levels were detected in each group.The ILD group was tested for alveolar arterial oxygen pressure difference(AaDO2)and arterial blood oxygen pressure(PaO2),and calculated the oxygenation index(OI).The correlation between the levels of RDW-CV,IL-11 and IL-31 and the severity of ILD were analyzed to explore the value of the above indicators in the clinical diagnosis of ILD and the differential diagnosis of different types of ILD.Results Compared with control group,there was no statistically significant difference in general information such as age,gender,smoking history,and complications between the ILD and CAP groups(P>0.05);RDW-CV,absolute values of neutrophil count(NEUT),and serum IL-11 and IL-31 levels in ILD group were significantly increased(P<0.05).Compared with CAP group,the levels of RDW-CV and serum IL-11,IL-31 in ILD group were increased,while the level of serum C-reactive protein(CRP)was decreased,with statistically significant differences(P<0.05).Correlation analysis results showed that RDW-CV and serum IL-31 in ILD patients were negatively correlated with OI(P<0.05),and positively correlated with AaDO2(P<0.05).The area under the ROC curves(AUC)of RDW-CV and serum IL-11,IL-31 single and combined applications for diagnosing ILD were 0.770,0.666,0.646,and 0.854,respectively(P<0.05).The AUC of serum IL-11 for differential diagnosis of CTD-ILD and IIP was 0.727(95%CI 0.580-0.874),with sensitivity of 62.5%and specificity of 73.3%(P<0.05).Conclusions RDW-CV and serum IL-31 have certain value in assessing the severity of ILD.RDW-CV and serum IL-11 and IL-31 have certain value in the diagnosis of ILD.Serum IL-11 has certain value in the differential diagnosis between CTD-ILD and IIP.

Objective To investigate the correlation between the expression of purinergic ligand-gated ion channel 7 receptor(P2X7R)and connective tissue growth factor(CTGF)in serum and cognitive function and clinical symptoms in patients with schizophrenia.Methods A total of 160 patients with schizophrenia who were diagnosed and treated in Department of Mental Intensive Care of Wuhan Wudong Hospital from January 2021 to January 2023 were collected as the observation group,and 160 healthy volunteers who underwent physical examinations were collected as the control group for the study.According to the Positive and Negative Symptom Scale(PANSS),patients were evaluated for their clinical and psychiatric symptoms(positive and negative symptoms,general pathological symptoms,and additional symptoms).The patients were grouped into a high score group(PANSS total score≥70 points,n=72)and a low score group(PANSS total score＜70 points,n=88).MATRICS consensus cognitive battery(MCCB)was applied to evaluate the cognitive abilities of patients;enzyme-linked immunosorbent assay(ELISA)was applied to detect serum P2X7R and CTGF levels.Spearman method was applied to analyze the correlation between serum P2X7R,CTGF levels and PANSS scores,and MCCB scores in patients with schizophrenia.Results Compared with the control group,the serum levels of P2X7R(610.71±107.83ng/L vs 384.78±80.62 ng/L)and CTGF(1.85±0.36μg/L vs 1.40±0.21μg/L)in the observation group were increased,with differences of statistical significance(t=21.226,13.658,all P＜0.05).The scores of variety items of MCBB of patients with schizophrenia in the observation group were lower than those in the control group,with differences of statistical significance(t=14.845～24.862,all P＜0.05),the positive symptom score(21.10±3.42score),negative symptom score(23.37±5.03 score),general pathological symptom score(39.48±8.11score),additional symptom score(8.26±1.22 score),and PANSS total score(92.21±12.50score)of schizophrenia patients in the high group were higher than those in the low group(13.65±3.04,15.62±3.91 score,30.14±6.15 score,5.20±0.94score,64.61±5.30score),with differences of statistical significance(t=14.576,10.964,8.280,17.915,18.764,all P＜0.05).The serum levels of P2X7R and CTGF in patients with schizophrenia in the high group were higher than those in the low group,with differences of statistical significance(t=12.233,5.923,all P＜0.05).The levels of serum P2X7R and CTGF in patients with schizophrenia were positively correlated with PANSS score(r=0.464～0.580,all P＜0.05),and negatively correlated with MCCB score[r=-0.603～-0.439,all P＜0.05].Conclusion The serum levels of P2X7R and CTGF in patients with schizophrenia are elevated,they are closely related to the clinical symptoms and cognitive function of patients.

AIM:To investigate the clinical efficacy of phakic implantable collamer lens(ICL)implantation in correcting low-to-moderate myopia.METHODS: Retrospective study. A total of 48 patients(85 eyes)with low to moderate myopia who underwent ICL implantation were included in the study. The changes in uncorrected visual acuity(LogMAR), corrected visual acuity(LogMAR), refractive outcomes, intraocular pressure, vault and endothelial cell were observed at 1 a postoperatively.RESULTS: At 12 mo postoperatively, uncorrected and best-corrected visual acuity were -0.10(-0.20, -0.10)and -0.10(-0.20, -0.10), respectively, with an efficacy index of 1.07±0.13 and a safe index of 1.10±0.14. The difference between the actual corrected diopter and the expected corrected diopter was 91%(77/85)in the range of ±0.50 D, and 100%(85/85)in the range of ±1.00 D. The mean vault was 501.16±210.46 μm at 12 mo postoperatively. There was no significant difference in corneal endothelial cell density between preoperative and 6 and 12 mo postoperatively(F=1.050, P=0.352). All patients had no anterior subcapsular opacification, cataract, pupillary block, or other sight threatening complications during follow-up.CONCLUSION: ICL implantation for the correction of low to moderate myopia has good efficacy, safety and predictability.

Chronic heart failure(CHF) is a series of clinical syndromes in which various heart diseases progress to their end stage. Its morbidity and mortality are increasing year by year, which seriously threatens people's life and health. The diseases causing CHF are complex and varied, such as coronary heart disease, hypertension, diabetes, cardiomyopathy and so on. It is of great significance to establish animal models of CHF according to different etiologies to explore the pathogenesis of CHF and develop drugs to prevent and treat CHF induced by different diseases. Therefore, based on the classification of the etiology of CHF, this paper summarizes the animal models of CHF widely used in recent 10 years, and the application of these animal models in traditional Chinese medicine(TCM) research, in order to provide ideas and strategies for studying the pathogenesis and treatment of CHF, and provide ideas for TCM modernization research.
Animals ; Medicine, Chinese Traditional ; Heart Failure ; Heart Diseases ; Chronic Disease ; Models, Animal

Chronic heart failure(CHF) is a comprehensive clinical syndrome caused by multiple factors that result in structural and/or functional abnormalities of the heart, leading to impaired ventricular contraction and/or relaxation functions. This medical condition represents the final stage of various cardiovascular diseases. In the treatment of CHF, multiple clinical studies have demonstrated the benefits of using traditional Chinese medicine(TCM) to control oxidative stress, inflammation, and apoptosis, thereby delaying ventricular remodeling and reducing myocardial fibrosis. In this study, common TCM syndromes in the diagnosis and treatment of CHF in recent years were reviewed and summarized. Five common treatment methods including benefiting Qi and activating blood circulation, enhancing Qi and nourishing Yin, warming Yang for diuresis, eliminating phlegm and dampness, rescuing from collapse by restoring Yang, and corresponding classic prescriptions in prevention and treatment of CHF were concluded under the guidance of TCM syndrome differentiation thinking. Meanwhile, research progress on the modern pharmacological effects of these classic prescriptions was systematically discussed, so as to establish a unique treatment system for CHF by classic prescriptions under the guidance of TCM syndrome differentiation theory and provide innovative diagnosis and treatment strategies for clinical CHF.
Humans ; Medicine, Chinese Traditional ; Heart Failure/drug therapy* ; Chronic Disease ; Syndrome

OBJECTIVE: Through showing the full picture of double-arm controlled clinical research and systematic review evidence in the field of orally administrated Chinese herbal medicine (CHM) for treatment of lung cancer, to provide a reference for future clinical research and to indicate a direction for future systematic reviews. METHODS: A comprehensive search of clinical controlled studies was performed regarding orally administered CHM treatment for lung cancer published from January 1970 to September 2020. The language was restricted to Chinese and English. Relevant data were extracted, the quality of systematic reviews was evaluated, and the research evidence was visually displayed. RESULTS: Randomized controlled trials were the most common type of research design. The research sample sizes were typically small. Oral CHM showed certain curative advantages in treating lung cancer. The key stages in oral CHM intervention for lung cancer are chemotherapy, radiotherapy, and late palliative treatment. The advantageous outcomes of oral CHM treatment of lung cancer are the short-term efficacy, quality of life, and adverse reactions. The perioperative stage, overall survival, pharmacoeconomic evaluation, and Chinese medicine decoctions are weak research areas. CONCLUSIONS CHM has staged and therapeutic advantages in treating lung cancer. The overall methodological quality is poor, and the level of evidence requires improvement. It is necessary to carry out large-scale, standardized, and higher-quality research in the superior and weak areas of CHM treatment of lung cancer.
Drugs, Chinese Herbal/adverse effects* ; Humans ; Lung Neoplasms/drug therapy* ; Quality of Life ; Randomized Controlled Trials as Topic ; Systematic Reviews as Topic

ObjectiveTo analyze the clinical characteristics of brucellosis patients from two tertiary hospitals in epidemic and non-epidemic areas. MethodsThe clinical data of 67 brucellosis patients hospitalized in The Affiliated Kashi Hospital of Sun Yat-sen University （Kashi， 53） and The Third Affiliated Hospital of Sun Yat-sen University （Guangzhou， 14） from January 2019 to December 2019 were retrospectively reviewed， including demographic data， medical history， symptoms， signs， laboratory tests and treatment， and the differences between the two groups were compared. ResultsThere were 23 patients in Kashi and 11 patients in Guangzhou with definite epidemiological history， respectively （P = 0.019）. Fever， fatigue and arthralgia were the most common symptoms of brucellosis. In addition to anorexia， the onset symptoms of patients in the two hospitals were roughly the same. The incidence of fever， muscle pain and fever peak was similar， but the symptoms of hyperhidrosis， fatigue， arthralgia and rash in Kashi were more common in Guangzhou. There were cases of hepatosplenomegaly in both hospitals， but there was no obvious superficial lymphedema. Complications occurred in 39（73.6%） and 11（78.6%） patients in Kashi and Guangzhou， respectively， with no statistical difference （P =0.971）， and hepatitis and bone damage were the most common. The incidence of spondylitis （P =0.042） and neurodegenerative brucellosis （P =0.041） in Guangzhou was higher than that in Kashi， and there was no significant difference in other complications. Of the patients in Kashi， 7.5 % were treated with single antibiotics， and 59.7 % were with dual therapy， which were higher than those in Guangzhou （0， 50.0 %）. The proportion of the triple scheme in Guangzhou was higher than that of Kashi （50.0 % vs. 11.3 %）. ConclusionsThe clinical characteristics of brucellosis in different regions are generally similar， but there are some differences in epidemiological history， symptoms， complications and treatment options. The characteristics of local cases should be concerned in clinical practice to reduce misdiagnosis of brucellosis.