Purpose To explore the clinicopathological and molecular genetic features of phytosterolemia(PTSL)with necrobiotic xanthogranuloma.Methods 4 cases of PTSL with necrobiotic xanthogranuloma as the primary mani-festation were reviewed.Gene mutations were detected by whole-exome sequencing and screened and verified by Sanger sequencing.The clinical manifestations,laboratory tests,genetic testing results,treatment and prognoses of the pa-tients were analyzed.Results All 4 patients developed subcutaneous masses on the face over a period of 3-13 years.Case 4 showed weakness of both lower limbs and an intracranial mass on MRI.Blood smear analysis revealed that the patients had platelets of varying sizes and were generally large,with increased stomatocytes.Total cholesterol(6.9-11.36 mmol/L)and low-density lipoprotein(4.45-7.08 mmol/L)were elevated in 4 patients.Genetic analysis re-vealed that cases 2 and 4 carried heterozygous mutations in the ABCG5 gene,and case 3 had a homozygous mutation in the ABCG8 gene.Conclusion Thrombocytopenia,stomatocytosis and splenomegaly are the special clinical manifesta-tions of patients with PTSL,and necrobiotic xanthogranuloma may be one of the late manifestations of the disease.Early genetic testing plays a critical role in the timely diagnosis and management of PTSL.

Objective:To learn about the clinical manifestations, laboratory test results, and prognosis of patients with acute and chronic brucellosis, and to provide a scientific basis for clinical diagnosis and treatment.Methods:A retrospective study was conducted to collect the clinical data of 776 patients with brucellosis admitted to the First Affiliated Hospital of Xinjiang Medical University from January 2013 to December 2023. The patients were divided into acute phase group and chronic phase group according to the course of disease. Their clinical manifestations, laboratory test results, and prognosis were compared and analyzed between the two groups.Results:Out of 776 patients with brucellosis, 649 were in the acute phase group and 127 were in the chronic phase group. Male accounted for 71.6% (556/776). The age was (44.91 ± 0.60) years old, mainly concentrated in the age range of 46 - 60 years old (38.0%, 295/776). Farmers were the main occupation, accounting for 58.4% (453/776). The disease occurred in all months of the year, with autumn being the peak period (33.9%, 263/776). The primary clinical manifestations were fever (64.7%, 502/776) and fatigue (40.5%, 314/776). The incidence rates of fever and fatigue in the acute phase group were higher than those in the chronic phase group [70.4% (457/649) vs. 35.4% (45/127), 42.5% (276/649) vs. 29.9% (38/127)], with statistically significant differences ( χ2 = 56.91, 7.01, P < 0.05). Complications of the osteoarticular system were the most common, accounting for 47.8% (371/776). Abnormal results of blood routine examinations were mainly characterized by decreased hemoglobin, decreased lymphocytes, and decreased white blood cells, accounting for 53.7% (417/776), 32.6% (253/776), and 22.6% (175/776), respectively. The incidence rate of decreased hemoglobin in the acute phase group was higher than that in the chronic phase group [63.5% (412/649) vs. 3.9% (5/127)], with a statistically significant difference ( χ2 = 151.49, P < 0.001). The remaining abnormal laboratory test results were mainly characterized by elevated erythrocyte sedimentation rate, elevated C-reactive protein, and elevated aspartate aminotransferase, accounting for 75.1% (583/776), 50.6% (393/776), and 39.8% (309/776), respectively. The incidence rates of elevated erythrocyte sedimentation rate and elevated aspartate aminotransferase in the acute phase group were higher than those in the chronic phase group [77.8% (505/649) vs. 61.4% (78/127), 43.3% (281/649) vs. 22.0% (28/127)], with statistically significant differences ( χ2 = 15.28, 20.02, P < 0.001). The overall positive rate of Brucella blood culture was 57.5% (446/776), and there was a statistically significant difference in blood culture between the two groups ( χ2 = 17.08, P = 0.002). The positive rate of blood culture in the acute phase group was higher than that in the chronic phase group [60.1% (390/649) vs. 44.1% (56/127)]. Ninety-four point three percent (732/776) of patients were treated with antibiotics, with rifampicin + doxycycline as the main treatment regimen (45.2%, 331/732). The median of antibiotic types used in the acute and chronic phase groups were 3 and 4, respectively. The overall incidence rate of adverse drug reactions was 3.8% (28/732). Eighty-seven point five percent (625/714) of patients improved or recovered after treatment, while 12.5% (89/714) did not recover or experienced relapse. Conclusions:The main clinical manifestations of brucellosis patients are fever and fatigue, with a higher incidence of complications in the osteoarticular system, and a better prognosis. The incidence of fever, fatigue, decreased hemoglobin, elevated erythrocyte sedimentation rate, elevated aspartate aminotransferase, and positive Brucella blood culture in patients in the acute phase are higher, and the types of antibiotics used are fewer than those in patients in the chronic phase.

Objective To explore the relationship between the severity of white matter hyperintensities(WMH)and the distribution of collateral disease syndrome types.Methods A total of 208 patients clearly diagnosed with cerebral small vessel disease in Lishui TCM Hospital Affiliated to Zhejiang Chinese Medical University from December 2022 to December 2023 were selected as the study subjects.All enrolled subjects in the study completed the collateral disease syndrome differentiation.WMH was graded on magnetic resonance imaging fluid-attenuated inversion recovery(FLAIR)sequences using the Fazekas scale and measured for volume.Results Among the 208 patients,there were 52 cases of the brain collateral impoverishment(BCI)type,with Fazekas score of 3(2,3)points,and WMH volume of(8.80±9.37)ml;67 cases of the brain collateral stasis(BCS)type,with Fazekas score of 4(3,4)points,and WMH volume of(13.42±9.18)ml;47 cases of the brain collateral constraint(BCC)type,with Fazekas score of 4(3,5)points,and WMH volume of(14.60±10.07)ml;and 42 cases of the brain collateral occlusion(BCO)type,with Fazekas score of 4(4,5)points,and WMH volume of(18.65±10.71)ml.Of these,55 patients with a Fazekas score of 1-2 points were most commonly of the BCI type,105 patients with a Fazekas score of 3-4 points were most commonly of the BCS type,and 48 patients with a Fazekas score of 5-6 points were most commonly of the BCO type.There were statistically significant differences in Fazekas scores and WMH volumes between the BCI and BCO types and other syndrome types(P＜0.05).Conclusion The severity of WMH corresponds to a certain distribution of collateral disease syndrome types,and can serve as a reference indicator for assessing the severity of illness in patients with collateral disease.

Objective To explore the relationship between the severity of white matter hyperintensities(WMH)and the distribution of collateral disease syndrome types.Methods A total of 208 patients clearly diagnosed with cerebral small vessel disease in Lishui TCM Hospital Affiliated to Zhejiang Chinese Medical University from December 2022 to December 2023 were selected as the study subjects.All enrolled subjects in the study completed the collateral disease syndrome differentiation.WMH was graded on magnetic resonance imaging fluid-attenuated inversion recovery(FLAIR)sequences using the Fazekas scale and measured for volume.Results Among the 208 patients,there were 52 cases of the brain collateral impoverishment(BCI)type,with Fazekas score of 3(2,3)points,and WMH volume of(8.80±9.37)ml;67 cases of the brain collateral stasis(BCS)type,with Fazekas score of 4(3,4)points,and WMH volume of(13.42±9.18)ml;47 cases of the brain collateral constraint(BCC)type,with Fazekas score of 4(3,5)points,and WMH volume of(14.60±10.07)ml;and 42 cases of the brain collateral occlusion(BCO)type,with Fazekas score of 4(4,5)points,and WMH volume of(18.65±10.71)ml.Of these,55 patients with a Fazekas score of 1-2 points were most commonly of the BCI type,105 patients with a Fazekas score of 3-4 points were most commonly of the BCS type,and 48 patients with a Fazekas score of 5-6 points were most commonly of the BCO type.There were statistically significant differences in Fazekas scores and WMH volumes between the BCI and BCO types and other syndrome types(P＜0.05).Conclusion The severity of WMH corresponds to a certain distribution of collateral disease syndrome types,and can serve as a reference indicator for assessing the severity of illness in patients with collateral disease.

Objective To investigate the clinical efficacy of recombinant human granulocyte-macrophage colony-stimulating factor(rhGM-CSF)combined with bifidobacterium in the treatment of oral mucositis after chemotherapy.Methods A total of 60 post-chemotherapy patients with oral mucositis admitted to Ganzhou Cancer Hospital of Jiangxi Province from January 2023 to December 2024 were selected as subjects,the patients were divided into observation group(n=30)and control group(n=30)by using a randomized digital table method.The control group received rhGM-CSF mouthwash treatment,while the observation group was additionally administered bifidobacterium-lactobacillus triple live capsules orally.Clinical efficacy,symptom scores,inflammatory factor levels,oral microbiota indicators,and treatment safety were evaluated after 2 weeks of treatment.Results After treatment,the total effective rate in observation group was significantly higher than that in control group(P＜0.05).Post-treatment evaluations showed that patients in observation group exhibited lower scores for edema,congestion,and ulceration,along with reduced pain visual analog scores and decreased levels of inflammatory markers including Toll-like receptor 4,lectin-3,and interleukin-8,the difference were statistically significant(P＜0.05).After treatment,the oral microecological flora of patients in observation group,including lactic acid bacteria and bifidobacterium,were higher than that of control group,while porphyromonas gingivalis and fusetella were lower than that of control group,the difference were statistically significant(P＜0.05).Conclusion The clinical effect of rhGM-CSF combined with bifidobacterium in the treatment of oral mucositis after chemotherapy was significant,which could reduce various symptoms of patients,inhibit inflammatory factors,improve oral microecology,and have good safety.

As an important starting point for the high-quality development of public hospitals,discipline construction is the key driving force to improve the medical quality and industry competitiveness of prefecture-level public hospitals.However,there is no systematic research on the allocation-use-output-effect of special funds in prefecture-level hospitals,and there is an inconsistency among fund management,performance evaluation mechanism and hospital discipline construction development plan.Based on high quality development background,taking Xiangyang Central Hospital as an example,it describes its specific initiatives in the management of special funds for discipline construction,and for the common problems existing in the management of special funds for discipline construction in local and municipal public hospitals,combines the Plan,Do,Check,Act(PDCA)cycle theory,and optimizes the management paths in four aspects,including declaration of projects by disciplines,execution of projects by disciplines,evaluation of budgetary performance,and self-examination of feedback,with a view to stimulating the vigor of discipline innovation and guide the high quality development of discipline construction in hospitals.

Objective To explore the short-term and long-term efficacy of partial splenic artery embolization(PSE)in the treat-ment of cirrhosis with hypersplenism.Methods A retrospective analysis was conducted on 35 patients with cirrhosis and hyper-splenism who underwent PSE treatment.Data on white blood cell(WBC),red blood cell(RBC),platelet count(PLT),hemoglobin(HGB),total bilirubin(TBiL),albumin(ALB),prothrombin time(PT),and D-dimer were collected at the three time points:before surgery,1 week after surgery,and 1 year after surgery.The changes in these parameters across the three time points were observed and compared.One-way ANOVA was used for repeated measurements,and time pairwise comparisons were made between the three time points.According to the formation of portal thrombosis,patients were divided into thrombus group and no-thrombus group.The D-dimer values were compared before surgery and 1 week after surgery.Results WBC and PLT were significantly higher 1 week and 1 year after surgery than those before surgery,with the most significant increase 1 week after surgery,and there was also statistically sig-nificant difference between 1 week after surgery and 1 year after surgery(P1,P2,P3<0.05).There were no significant differences in RBC and HGB between 1 week after surgery and before surgery(RBC P1=0.835,HGB P1=0.446).However,RBC and HGB 1 year after surgery were significantly higher than those before surgery and 1 week after surgery(RBC P2=0.039,P3=0.015;HGB P2=0.001,P3=0.010).There were significant differences in TBiL,ALB,PT,and D-dimer 1 week after surgery compared with those before surgery(TBiL P1=0.006,ALB P1<0.001,PT P1=0.001,D-dimer P1<0.001),but there was no significant differ-ence between 1 year after surgery and before surgery(all P2>0.05).The D-dimer of the thrombus group was significantly higher than that of the no-thrombus group 1 week after surgery,with a statistical significance(P=0.024),however,there was no signifi-cant difference in D-dimer between the two groups before surgery.Conclusion PSE in the treatment of cirrhosis with hypersplenism shows positive short-term and long-term efficacy for WBC and PLT.The short-term increase of RBC and HGB is not obvious,however the long-term efficacy is significant.In the short-term after surgery,TBiL increase,ALB decrease,PT prolonge,and liver reserve function decrease,but there was no long-term effect.The increase of D-dimer after surgery can easily induce portal thrombosis,and anticoagulation therapy can be given in the short-term after surgery.

Objective To investigate the risk factors of overt hepatic encephalopathy(OHE)and death in cirrhotic portal hyperten-sion patients after transjugular intrahepatic portosystemic shunt(TIPS).Methods A retrospective selection was conducted on 40 patients with cirrhotic portal hypertension who underwent TIPS.The follow-up time was 3-41 months,median follow-up time was 20.36 months.The postoperative hepatic encephalopathy(HE)were divided into OHE group(20 cases)and non-OHE group(20 cases)and were further divided into death group(11 cases)and survival group(29 cases)according to their postoperative survival status.Gender,age,preoperative height,weight,total bilirubin,albumin,alanine aminotransferase,aspartate aminotransferase,creatinine,international normalized ratio(INR),prothrombin time,blood glucose,white blood cells,hemoglobin and platelet of all patients were recorded in detail,as well as whether they had diabetes and portal thrombosis before surgery.Child score and model for end-stage liver disease(MELD)score were also performed.The related risk factors of HE and death were obtained by statistical analysis of the two groups.Results The incidence rate of OHE after TIPS was 50%.The analysis revealed that age[hazard ratio(HR)1.115,95%confidence interval(CI)1.007-1.234,P=0.036]and albumin(HR 0.776,95%CI 0.627-0.960,P=0.020)were independent risk factors for OHE after TIPS.The receiver operating characteristic(ROC)curves were drawn with area under the curve(AUC)of 0.733 for age and AUC of 0.784 for albumin.The mortality rate after TIPS was 27.5%,and the analysis indicated that albumin(HR 0.660,95%CI 0.453-0.961,P=0.030),creatinine(HR 1.031,95%CI 1.001-1.062,P=0.044),and aspartate aminotransferase(HR 1.074,95%CI 1.013-1.139,P=0.018)were independent risk factors for death after TIPS.The ROC curves were drawn with AUC of 0.716 for albumin,AUC of 0.762 for creatinine,and AUC of 0.710 for aspartate aminotransferase.Conclusion Postoperative OHE is posi-tively correlated with age and negatively correlated with albumin.Furthermore,the risk of postoperative death is positively correlated with creatinine and aspartate aminotransferase and negatively correlated with albumin.

Abuse of amphetamine-based stimulants is a primary public health concern. Recent studies have underscored a troubling escalation in the inappropriate use of prescription amphetamine-based stimulants. However, the neurophysiological mechanisms underlying the impact of acute methamphetamine exposure (AME) on sleep homeostasis remain to be explored. This study employed non-human primates and electroencephalogram (EEG) sleep staging to evaluate the influence of AME on neural oscillations. The primary focus was on alterations in spindles, delta oscillations, and slow oscillations (SOs) and their interactions as conduits through which AME influences sleep stability. AME predominantly diminishes sleep-spindle waves in the non-rapid eye movement 2 (NREM2) stage, and impacts SOs and delta waves differentially. Furthermore, the competitive relationships between SO/delta waves nesting with sleep spindles were selectively strengthened by methamphetamine. Complexity analysis also revealed that the SO-nested spindles had lost their ability to maintain sleep depth and stability. In summary, this finding could be one of the intrinsic electrophysiological mechanisms by which AME disrupted sleep homeostasis.
Animals ; Methamphetamine ; Electroencephalography ; Male ; Sleep/drug effects* ; Central Nervous System Stimulants ; Delta Rhythm/drug effects* ; Sleep Stages/drug effects*

A primary hallmark of pathological cardiac hypertrophy is excess protein synthesis due to enhanced translational activity. However, regulatory mechanisms at the translational level under cardiac stress remain poorly understood. Here we examined the translational regulations in a mouse cardiac hypertrophy model induced by transaortic constriction (TAC) and explored the conservative networks versus the translatome pattern in human dilated cardiomyopathy (DCM). The results showed that the heart weight to body weight ratio was significantly elevated, and the ejection fraction and fractional shortening significantly decreased 8 weeks after TAC. Puromycin incorporation assay showed that TAC significantly increased protein synthesis rate in the left ventricle. RNA-seq revealed 1,632 differentially expressed genes showing functional enrichment in pathways including extracellular matrix remodeling, metabolic processes, and signaling cascades associated with pathological cardiomyocyte growth. When combined with ribosome profiling analysis, we revealed that translation efficiency (TE) of 1,495 genes was enhanced, while the TE of 933 genes was inhibited following TAC. In DCM patients, 1,354 genes were upregulated versus 1,213 genes were downregulated at the translation level. Although the majority of the genes were not shared between mouse and human, we identified 93 genes, including Nos3, Kcnj8, Adcy4, Itpr1, Fasn, Scd1, etc., with highly conserved translational regulations. These genes were remarkably associated with myocardial function, signal transduction, and energy metabolism, particularly related to cGMP-PKG signaling and fatty acid metabolism. Motif analysis revealed enriched regulatory elements in the 5' untranslated regions (5'UTRs) of transcripts with differential TE, which exhibited strong cross-species sequence conservation. Our study revealed novel regulatory mechanisms at the translational level in cardiac hypertrophy and identified conserved translation-sensitive targets with potential applications to treat cardiac hypertrophy and heart failure in the clinic.
Animals ; Humans ; Cardiomegaly/physiopathology* ; Ribosomes/physiology* ; Protein Biosynthesis/physiology* ; Mice ; Cardiomyopathy, Dilated/genetics* ; Ribosome Profiling