Objective Myelodysplastic spndrome (MDS) patients' chromosome aberrations were detected by CC and FISH method respectively,to establish standard FISH platform of diagnosis of MDS,to compare the differences of FISH and CC in the detection of MDS chromosome aberrations.Methods Chinese MDS patients fulfilled with the Vienna minimum diagnostic criteria were tested by CC and FISH method,and the patients' clinical data was collected at the same time.Results The standard FISH platform of diagnosis of MDS was established successfully,including probe combination of-5/5q-,+8,-7/7q-,20q-,-Y,the success rate was 100 ％.In 83 cases of MDS,chromosome aberrations rate detected by two methods was 42.2 ％,30.1％ of CC method and 33.7 ％ of FISH method,the accordant diagnostic rate was 76.1％.FISH had higher positive rate than CC method (29.6 ％ vs 18.6 ％,P =0.049) in the IPSS intermedian-risk 1 group,but lower positive rate in IPSS intermedian-risk 2 group (62.5 ％ vs 81.2 ％,P =0.036).There were 11 (19.0 ％) cases of clonal chromosome aberrations detected by FISH method but not detected by CC method,in which 10 (90.9 ％) cases were intermedian-risk 1 group (IPSS grouping).Evaluate IPSS by FISH and CC respectively,the accordant rate was 86.7 ％.Evaluate IPSS by CC alone will result in 3 patients (3.6 ％)decline in risk stratification,and evaluate IPSS by FISH alone will result in 8 patients (9.6 ％) decline in risk stratification.There were 35 (42.2 ％) cases of chromosome aberrations detected by the two methods,including 13 (15.7 ％) cases of complex karyotype and 22 (26.5 ％) cases of single abnormal karyotype.The most common chromosomal aberration was +8,a total of 9 (10.8 ％) cases,followed by abnormalities of chromosome 7,a total of 7 (8.4 ％) cases.Conclusion The study has established standard FISH platform of diagnosis of MDS,the method is stable,sensitive and rapid.FISH technology joint CC technology can improve the patients with MDS chromosome aberration detection rate.Compared to CC,FISH technique can improve the detection rate of the intermedian-risk 1 IPSS grouping MDS patients.Because of limited probe,FISH technique can not entirely replace the role of CC method in MDS,but can complement each other.

Objective To evaluate the clinical characteristics,diagnosis and treatment method of pancreatic sinistral portal hypertension caused by tumors in the body and tail of the pancreas.Methods A retrospective review of 40 patients diagnosed with pancreatic sinistral portal hypertension at Peking Union Medical College Hospital from January 2007 to December 2012 was performed.Results The Initial symptoms were epigastric pain and discomfort (n =12),emaciation (n =5),low-back pain (n =4),splenomegaly (n =2),hematemesis and melena (n =4),hypoglycemic coma (n =1).All 40 patients had splenomegaly and varices in the gastric fundus with normal liver function.8 had combined esophageal varices.24 had hypersplenism and 26 had elevated serum CA19-9 level.25 patients received surgical intervention and 15 were treated conservatively.Pathology confirmed malignancy in 29 patients and benign lesions in 11.Thirty-five patients (35/40,88％) were followed up for 12 to 72 months.For patients undergoing surgery,hypersplenism and varices in the gastric fundus were all relieved.There was no upper gastrointestinal bleeding occurred during follow-up.For patients treated conservatively,hypersplenism remained stable and among them 4 patients had upper gastrointestinal bleeding,and successfully treated by medication,therapeutic endoscopy and interventional therapy.Conclusions Patients with pancreatic sinistral portal hypertension caused by tumor in the body and tail of the pancreas can be cured successfully by surgery.In those patients portal hypertension can present as initial clinical manifestation.

OBJECTIVESTo observe the influence of wen-yang herbs on the hemodynamics in liver fibrotic rats.

METHODSWistar rats with liver fibrosis, induced by carbon tetrachloride and alcohol, were randomly divided into a treatment group and a control group. The treatment group was administered wen-yang herbs and the control group saline. At the end of the experiment, the hemodynamic markers of the liver and the mesentery, the liver function and hydroxyproline content of liver tissues between the two groups were compared. Blood volume of the livers and hydroxyproline content of liver tissues were also determined.

RESULTSBlood volume of the liver and mesentery (P < 0.01) and blood flow velocity of small vein of mesentery (P < 0.05) of the treatment group were distinctly higher than the control group. The hydroxyproline content (P < 0.01) of the treatment group was remarkably reduced and liver function was improved.

CONCLUSIONWen-yang herbs can activate microcirculation of the liver and mesentery, decrease the deposit of collagen in the liver and improve liver function.

Animals ; Blood Circulation ; drug effects ; Drugs, Chinese Herbal ; therapeutic use ; Liver Cirrhosis, Experimental ; drug therapy ; physiopathology ; Male ; Phytotherapy ; Random Allocation ; Rats ; Rats, Wistar

OBJECTIVETo investigate the relationship between sympathetic remodeling and electrical remodeling at the infarcted border zone (IBZ) of rabbit with chronic myocardial infarction (MI).

METHODSThirty rabbits were randomly assigned into two groups: MI group (n = 20): ligation of the anterior descending coronary; sham operation (SO) group (n = 10): without contrary ligation. Eight weeks after surgery, transmural dispersion of repolarization (TDR) at baseline, during sympathetic nerve stimulation, TDR change (DeltaTDR) during sympathetic nerve stimulation and ventricular fibrillation threshold (VFT) were measured at the IBZ in MI group and corresponding zone in SO group. The distribution and densities of growth associated protein 43 (GAP43) and tyrosine hydroxylase (TH) positive nerves in ventricle were also detected with immunohistochemical techniques.

RESULTSEighteen rabbits in the MI group and 10 in the SO group survived to the end of the study. The densities of GAP43 and TH at the IBZ in the MI group were significantly higher than that at the corresponding zone in the SO group (both P < 0.05). The densities of GAP43 and TH in MI rabbits positively correlated with TDR at baseline, TDR or DeltaTDR during sympathetic nerve stimulation (all P < 0.01) and both showed a weak negative correlation with VFT (r =-0.44, P = 0.07; r = -0.41, P = 0.09, respectively).

CONCLUSIONSympathetic remodeling is correlated with electrical remodeling at the IBZ in rabbits with chronic MI.

Action Potentials ; Animals ; Humans ; Male ; Myocardial Infarction ; pathology ; physiopathology ; Rabbits ; Random Allocation ; Sympathetic Nervous System ; physiopathology

Objective To investigate the association between the single nucleotide polymorphism (SNP) of leukotriene C4 synthase(LTC4S) rs730012 in the childhood asthma.Methods Sequence specific primers-polymerase chain reaction was used to assess the genetic polymorphism of LTC4S rs730012 in 105 asthma children with different order of severity and 128 non-asthma children in our hospital in the northeast of China to analyse the association between the SNP of LTC4S rs730012 and susceptibility,clinical phenotype in asthma children.Results (1) In case group,genotype frequencies of A/C,A/A and C/C were 71.4％ 、25.7％ 、2.9％,allele frequencies for A,C were 84.3％,15.7％.In control group,the genotype frequencies of A/A,A/C,C/C,were 70.3％,28.9％,0.8％,allele frequencies for A,C were 84.8％,15.2％.No significant difference was found in AA genotype and C allele frequencies between case and control grouP(x2 =0.035、0.020,P both ＞0.05).(2) C/C genotype or C allele frequencies in moderate-severe asthma group were significantly higher than the mild asthma group(x2 =5.859、5.641,P both ＜ 0.05);(3) SaO2 of A/A group was significantly higher than A/C and C/C group (t =2.976,Pboth ＜ 0.05),and FeNO and obstructive ventilatory disorder incidence rate in A/C,C/C group were higher than A/A group,the differences were statistically significant (t =2.946、x2 =5.564,P both ＜ 0.05).Conclusion The SNP of LTC4S rs730012 is associated with the order of severity,SaO2,FeNO,pulmonary function in asthma children of northeast China.However,the rs730012 is not associated with the susceptibility for asthma.

Objective:To analyze the clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis (CTX) to increase the awareness of the disease among clinicians.Methods:The clinical data, including the age of onset and diagnosis, clinical manifestations, neuroimaging and neuroelectrophysiology and the genetic data of patients diagnosed with CTX in the Department of Neurology, Qilu Hospital of Shandong University from March 2017 to December 2023 were retrospectively collected and analyzed.Results:A total of 18 patients were enrolled in this study, including 12 males and 6 females.The onset age was 10 (6, 29) years, with a minimum onset age of 3 years and a maximum onset age of 32 years; the period from onset to diagnosis was 19.00 (8.75, 24.25) years, with the shortest being 6 months and the longest being 35 years. Among the 18 patients, 16 patients had symptoms and signs of spastic paralysis, 9 patients had cognitive impairment and peripheral neuropathy, 8 patients had cerebellar ataxia, 3 patients had mental disorders, 3 patients had autonomic nervous dysfunction, and only 2 patients had seizures. Among the non-neurological symptoms, 9 patients had Achilles tendon xanthoma, of whom 1 patient was accompanied by patellar tendon xanthoma; 8 patients had adolescent cataracts, 6 patients had chronic diarrhea since childhood. All patients underwent brain MRI examination, among whom 15 patients had cerebellar dentate nucleus involvement, 10 patients had corticospinal tract involvement and 2 patients had normal brain MRI. Fourteen patients underwent nerve conduction and electromyography examinations, among whom 9 patients presented with multiple peripheral neuropathy characterized by motor or motor sensory demyelination. A total of 17 CYP27A1 gene variants were detected in 18 patients. The c.1420C>T and c.1263+1G>A were the hot-spot mutations in this cohort. Conclusions:Spastic paralysis, cerebellar ataxia, tendon xanthoma and adolescent cataracts are typical manifestations of CTX. The cerebellar dentate nucleus and corticospinal tract are mainly involved on the neuroimaging. It should be noted that some patients lack the typical characteristics mentioned above. The c.1420C>T and c.1263+1G>A are the hot-spot mutations in this cohort.

BACKGROUNDNeuromyelitis optica (NMO) and multiple sclerosis (MS) are autoimmune demyelinating diseases of the central nerve system. Interleukin-7 (IL-7) and interleukin-7 receptor alpha (IL-7Rα) were proved to be important in the pathogenesis of both diseases because of the roles they played in the differentiations of autoimmune lymphocytes. The variants of both genes had been identified to be associated with MS susceptibility in Caucasian, Japanese and Korean populations. However, the association of these variants with NMO and MS has not been well studied in Chinese Southeastern Han population. Here, we aimed to evaluate the association of six IL-7 variants (rs1520333, rs1545298, rs4739140, rs6993386, rs7816065, and rs2887502) and one variant of IL-7RA (rs6897932) with NMO and MS among Chinese Han population in southeastern China.

METHODSMatrix-assisted laser desorption/ionization time of flight mass spectrometry (MassARRAY system) and Sanger sequencing were used to determine the variants of IL-7 and IL-7RA in 167 NMO patients, 159 MS patients and 479 healthy controls among Chinese Han population in southeastern China. Samples were excluded if the genotyping success rate <90%.

RESULTSStatistical differences were observed in the genotypes of IL-7 rs1520333 in MS patients and IL-7RA rs6897932 in NMO patients, compared with healthy controls (P = 0.035 and 0.034, respectively). There was a statistically significant difference in the genotypes of IL-7 rs2887502 between MS and NMO patients (P = 0.014). And there were statistically significant differences in the rs6897932 genotypes (P = 0.004) and alleles (P = 0.042) between NMO-IgG positive patients and healthy controls.

CONCLUSIONSThe study suggested that among Chinese Han population in southeastern China, the variant of IL-7RA (rs6897932) was associated with NMO especially NMO-IgG positive patients while the variant of IL-7 (rs1520333) with MS patients. And the genotypic differences of IL-7 rs2887502 between MS and NMO indicated the different genetic backgrounds of these two diseases.

Adolescent ; Adult ; Aged ; Alleles ; Asian Continental Ancestry Group ; genetics ; Child ; China ; Female ; Gene Frequency ; genetics ; Genetic Predisposition to Disease ; genetics ; Genotype ; Humans ; Interleukin-7 ; genetics ; Male ; Middle Aged ; Multiple Sclerosis ; genetics ; Neuromyelitis Optica ; genetics ; Polymorphism, Single Nucleotide ; genetics ; Receptors, Interleukin-7 ; Young Adult

OBJECTIVETo study causes of ineffectiveness of microvascular decompression (MVD) in treatment of hemifacial spasm (HFS).

METHODSReoperative MVD was performed in 23 HFS patients with previous ineffective MVD. In the patients, the main causes of ineffectiveness included misjudgment of compressing vessels (7 patients), improper insertion of decompressing grafts (9), improper selection of grafts (5) and small grafts (2).

RESULTSSymptoms of HFS disappeared immediately after the second MVD in 21 patients and delayed in 2 patients (after 2 weeks, 6 weeks). No recurrence of HFS was noted during the follow-up period of 1.0 - 6.0 years (mean 3.4 years).

CONCLUSIONSMVD is an effective microsurgical method for treating HFS. Accurate judgement of compressing vessels and proper decompression are the key to surgical effectiveness.

Adult ; Decompression, Surgical ; methods ; Female ; Follow-Up Studies ; Hemifacial Spasm ; surgery ; Humans ; Male ; Medical Futility ; Microsurgery ; methods ; Middle Aged ; Reoperation ; Treatment Outcome ; Vascular Surgical Procedures ; methods ; Young Adult

Adult ; Aged ; Esophageal and Gastric Varices ; diagnosis ; surgery ; Female ; Humans ; Male ; Middle Aged ; Pancreas ; pathology ; surgery ; Pancreatic Neoplasms ; diagnosis ; surgery ; Splenomegaly ; diagnosis ; surgery ; Young Adult

Objective China is among the 30 countries with a high burden of tuberculosis(TB)worldwide,and TB remains a public health concern.Kashgar Prefecture in the southern Xinjiang Autonomous Region is considered as one of the highest TB burden regions in China.However,molecular epidemiological studies of Kashgar are lacking. Methods A population-based retrospective study was conducted using whole-genome sequencing(WGS)to determine the characteristics of drug resistance and the transmission patterns. Results A total of 1,668 isolates collected in 2020 were classified into lineages 2(46.0%),3(27.5%),and 4(26.5%).The drug resistance rates revealed by WGS showed that the top three drugs in terms of the resistance rate were isoniazid(7.4%,124/1,668),streptomycin(6.0%,100/1,668),and rifampicin(3.3%,55/1,668).The rate of rifampicin resistance was 1.8%(23/1,290)in the new cases and 9.4%(32/340)in the previously treated cases.Known resistance mutations were detected more frequently in lineage 2 strains than in lineage 3 or 4 strains,respectively:18.6%vs.8.7 or 9%,P<0.001.The estimated proportion of recent transmissions was 25.9%(432/1,668).Multivariate logistic analyses indicated that sex,age,occupation,lineage,and drug resistance were the risk factors for recent transmission.Despite the low rate of drug resistance,drug-resistant strains had a higher risk of recent transmission than the susceptible strains(adjusted odds ratio,1.414;95%CI,1.023-1.954;P = 0.036).Among all patients with drug-resistant tuberculosis(DR-TB),78.4%(171/218)were attributed to the transmission of DR-TB strains. Conclusion Our results suggest that drug-resistant strains are more transmissible than susceptible strains and that transmission is the major driving force of the current DR-TB epidemic in Kashgar.