Objective To improve the recognition of diagnosis, treatment and leukemia transformation of primary myelofibrosis (PMF). Methods One case with PMF which transformed into acute myeloid leukemia (AML) was reported and the literatures on this topic were reviewed. Results The patient was diagnosed according to the 2008 version of the WHO classification of PMF leukemia transformation was diagnosed after 2.5 years. The JAK2 V617F gene mutation was detectable both before and after leukemia transformation. The outcome of low dose chemotherapy could keep a short time. Conclusion JAK2 V617F gene could remain detectable after leukemia transformation in PMF patients. It is difficult to control the disease progress by low dose chemotherapy.

The clinical treatment of locally advanced thymic epithelial tumors still faces many challenges, a multidisciplinary treatment model based on surgery is the main treatment method. In recent years, the surgical treatment of locally advanced thymic epithelial tumors has progressed rapidly, especially in the field of minimally invasive treatment. But controversies still exist and there are concepts needed to be clarified and principles to abide by. This article focuses on current status and recent progress in diagnosis and treatments of locally advanced thymic epithelial tumors.

Objective To develop a standard and procedural protocol for the perioperative management of thymectomy for myasthenia gravis(MG) patients and thus to reduce the incidence of MG crisis.Methods From June 1996 to March 2016,466 MG cases received thymectomy we continuously explored key technologies of surgical treatment for MG 466 patients,there were 209 male cases and 259 female cases,with age ranging from 5 to 77 years and chief complaint history ranging from 12 days to 18 years.Symptoms included drooping eyelids,double vision,weakness,shortness of breath,coughing,dysarthria,and difficulties in swallowing and chewing.According to the modified Osserman classification,there were 248 type Ⅰ MG cases,58 type Ⅱa MG cases,66 type Ⅱb MG cases,71 type Ⅲ MG cases,and 23 type Ⅳ MG cases respectively.116 cases received thymecotomy via full sternotomy,204 cases via J type semi-sternotomy,and 146 case via thoracoscopy (including 13 cases via sub-xiphoid approach).Results Perioperatively one case died of sudden death,another patient died of respiratory failure after the second operation for metastatic thymoma,with a mortality rate of 0.42％ (2/466);13 cases had M G crisis (13/466);Six cases underwent tracheotomy (6/466);2 cases had plasmapheresis hypotonic syndrome (accounting for 3.4％ in plasmapheresis cases) and were reoperated to stop bleeding.Postoperatively pathological diagnosis was made,including three thymic atrophy cases,272 thymic hyperplasia cases,178 thymoma cases,and 13 thymic cyst cases.Conclusion A standard and procedural protocol for the perioperative management of thymectomy for MG patients can be developed,which can reduce the morbidity of MG crisis and the incidence of tracheotomy.

Purpose To investigate the relation of EGFR and KRAS gene mutations with the pathological characteristics in non-small cell lung cancer (NSCLC).Methods The EGFR and KRAS gene mutations were detected and analyzed in 64 patients with NSCLC by capillary electrophoresis and fluorescent probe method.Results In 64 cases,the EGFR gene mutations were detected in 27 patients (42.2％);the KRAS gene mutations in 8 patients (12.5％).The EGFR and KRAS mutations synchronized in 4 patients (6.25％).The mutations rate of EGFR was related to gender,histology type and smoking condition (P ＜ 0.05).There was no association between mutation of EGFR gene with the age,differentiation,lymph node metastasis and TNM stages (P ＞ 0.05).The mutations rate of KRAS gene was higher in adenocarcinoma patients than that in squamous carcinoma (P ＜ 0.01).There was no relationship between mutation of KRAS gene with the gender,age,smoking condition,differentiation,lymph node metastasis and TNM stages (P ＞ 0.05).Conclusion In NSCLC,EGFR gene mutations rate is higher than KRAS gene mutation.The mutation rate of EGFR gene is higher in female,adenocarcinoma and never smokers;the mutations rate of KRAS mutations is higher in patients with adenocarcinoma.The mutations in EGFR and KRAS can exist at the same time.

Objective To observe the differences of metabolite ratios among mild cognitive impairment (MCI),Alzheimer’s disease (AD) and normal cognitive state (NC)patients in the hippocampus.Methods According to the clinical features,patients were divided into three groups:MCI group (n=30),AD group (n=28)and NC group (n=30).All the patients were examined by 1 H MRS and compared the ratios of NAA/Cr,Ins/Cr,NAA/Ins,Cho/Cr of both the left and right side of the hippocampus.Results The NAA/Cr in MCI group and AD group were much lower than that in NC group (P <0.05).The Ins/Cr and NAA/Ins in MCI group and AD group showed significant differences compared with NC group (P <0.05).On Ins/Cr and NAA/Ins of the left side,there were significant differences among three groups (P <0.05).Conclusion 1 H MRS as a non-invasive diagnostic technique has higher sensitivity in the early diagnosis and differential diagnosis between MCI and AD patients.

Objective To investigate the efficacy of adriamycin injection around trigeminal ganglion via foramen ovale for treatment of trigeminal neuralgia under the guidance of X-ray and neurostimulator.Methods 0.5% adriamycin 0.5 ml was injected into foramen ovale under the guidance of X-ray and neurostimulator in 78 patients with primary trigeminal neuralgia.Correct location of needle tip wax confirmed by lidocaine injection.THe patients were followed up for 24 months after adriamycin injection.The rate of effectiveness,excellent/good rate,compile remission rate and recurence rate were calculated.The complications were observed.Results On the day of treatment,and at 7 days and 1,6,12,24 months after treatment,the complete remission rate was 21%,18%,51%,45%,43%,and 39%respectively,the excellent/good rate 42%,41%,68%,65%,62%,and 54%respectively,and the rate of effectiveness 76%,82%,92%,91%,78%,and 70%respectivdy.The recurrence rate was 3%,20%and 35%at 6,12 and 24 months after treatment respectively.Facial numbness developed in 17 patients and disappeared after 8-12 months.No severe complication occurred.Conclusion Adriamycin injection around trigeminal ganglion via foramen ovale under the guidance of X-ray and neuronstimulator for treatment of trigeminal neuralgia is effective and safe.

Objective To analyze clinical and radiological characteristics of intracranial hemorrhage in hematological diseases to improve the recognition of them. Methods Thirty-one clinical data of intracranial hemorrhage cases with hematological diseases were reviewed. The basic diseases, clinical and radiological manifestations, and risk factors of mortality were analyzed. Results Intracranial hemorrhage usually occurred in patients with acute myeloid leukemia (AML) or idiopathic thrombocytopenic purpura (ITP),and 13 and 6 cases, respectively, in this group. Most patients presented with headache, restlessness, nausea,vomiting, conscious disturbance and no localization sign by physical examination. CT or MRI images often revealed focus of errlysis. Compared with CT scan, a higher detection rate of ICH could be realized by MRI scan. The total mortality in this group of ICH patients was 71% (22/31). Fever, white blood cell ＞5×109/L,platelet ＜50×109/L, hyperimmunoglobulinemia and disturbance of blood coagulation were risk factors for ICH of this group of patients. The mortality was higher in patients with no less than 2 risk factors[86.4 % (19/22)vs 33.3 % (3/9)] (x2 = 8.718, P = 0.003). Conclusion ICH is a serious complication for hematological patients. MRI scan is good at improving the diagnosis of ICH. It is of high risk of death in patients with no less than 2 risk factors such as fever, white blood cell higher than 5×109/L, platelet less than 50×109/L,hyperimmunoglobulinemia and disturbance of blood coagulation.

10.3969/j.issn.1000-3606.2013.06.020

Objective To analyze the clinical and pathological characteristics of Alport syndrome in children. Methods Clinical and pathological information gathered from 62 patients during March 1989 to August 2012 was retrospectively analyzed. Results Four autosomal recessive Alport syndromes (AR-AS) and 58 X-linked Alport syndromes (XL-AS) were analyzed. Of the XL-AS, 47 were boys and 11 were girls. Most of patients induced by upper respiratory tract infections, and onset with hematuria and proteinuria. There was no signiifcant gender difference in family history, impaired renal tubular proteins, hypertension, im-paired renal function, hearing loss, ocular abnormalities or renal pathological changes under light microscopy. However, extensive lamination and split of glomerular basement membrane (GBM) dense layers were found in 83.0%male and 18.2%female patients (P=0.000) and the rest patients were presented with limited distribution of typical GBM changes. Proteinuria progressed signiif-cantly with age in XL-AS males (r=0.501, P=0.000). Five XL-AS patients developed to end stage renal disease (ESRD) between 11 to 16 years old. Conclusions XL-AS is the main inherited type and severe changes of GBM are common in XL-AS males. Proteinuria increases remarkably with age. The detection of type IV collagen in renal tissue or skin is helpful to diagnose Alport syndrome and conifrm inheritance modes.

Objective To understand the status of pertussis infection and characteristics of molecular epidemiology of pertussis in 2013 in Tianjin.Methods Totally,181 suspected pertussis cases were selected and their nasopharyngeal swabs and serum were sampled at the Disease Monitoring Settings in Tianjin.Real-time PCR was used to detect Bordetella pertussis double target genes and enzyme linked immune-sorbent assay (ELISA) method was used to detect the specific pertussis toxin IgG (PT-IgG) antibody.Fimbriae 2 (FIM2) and Fimbriae 3 (FIM3) genes of pertussis was amplified by PCR for sequencing,from 30 pertussis DNA positive samples.Results The positive rate of Real-time PCR was 68.24％ in 148 cases and the positive rate of PT-IgG antibody was 55.56％ in 108 cases.Among 101 cases that nucleic acid were positive,the median duration of disease was 11 days.Among the PT-IgG Positive cases (60 cases),the median duration of disease was 21 days.In cases under 1 year old,the Real-time PCR testing positive rate was 84.28％.Positive rates among other age groups,the differences were statistically significant.Nucleotide homologies of FIM2 and FIM3 genes from 30 pertussis strains were 99.6％-100.0％,while it was 99％ when compared to both international standard Tohama strain and Chinese vaccine strain.Conclusion Detection of pertussis by Real-time PCR from clinical nasopharyngeal swab sample was quick and sensitive for the diagnosis.Bordetella pertussis epidemic strains in Tianjin area appeared close relation with both the international standards and China vaccine strains.