Objective To test the association between mitochondrial DNA(mtDNA) point mutations and praecox Parkinson's disease (PPD),and to investigate the characteristics of mtDNA mutations in Chinese patients with PPD. Methods Screening mtDNA A4336C, G5460A,A10398G,A13780G point mutations in 40 patients with PPD and 48 in control group was carried out by using Polymerase Chain Reaction (PCR), dot blotting, radiant developing. And sequencing was given to the nucleotide position (np)10256～np10577mtDNA of 20 patients with PPD and 20 subjects in control group.Results Out of the 40 patients with PPD, 20 (50%)had A10398G mutation. 6 (15%) had G5460A, 5(12.5%) had A13780G, 2 (5%)had A4336C, 19 (47.5%)had C10400T mutation. Out of the 48 controls, 7(14.6%) had A10398G, 24.2% had G5460A, 1 (2.1%)had A13780G and 20 (41.7%)had C10400T, but no any A4336C mutation was found in the controls. Thus, the ratios of A10398G,G5460A,A4336C,A13780G in patients with PPD were separately higher than those in the control group. Moreover significant difference was found in A10398G point mutation (P

Objective To investigate the characteristics of subcutaneous panniculitis-like T cell lymphoma ( SPTCL) in order to facilitate prompt identification and proper treatment of this rare and heterogeneous disease entity. Methods For 8 patients who had been misdiagnosed as rheumatic diseases but eventually confirmed as SPTCL though pathology and immunohistochemistry, a retrospective chart review was made with regard to their clinical symptoms, laboratory test results, pathological features, responses to therapy as well as outcomes. Results These 8 patients with a male to female ratio of 1: 1 were initially misdiagnosed as a variety of rheumatic diseases such as erythema nodosa, nodular panniculitis, systemic vasculitis,etc. The period from the onset of symptoms to the confirmation of diagnosis as SPTCL was 28. 6 months on average (range, 4-84 months). All the cases presented with multiple subcutaneous nodules, plaques or tumors which involved various anatomic sites including the head and neck, the trunk, and the extremities. Fever was the most frequently accompanying symptom (7/8) , followed by lymphadenopathy (4/8) , hepatomegaly (3/8), splenomegaly (3/8). Hemophagocytic phenomenon was seen in 3 cases.A total of 22 times of biopsy involving multiple anatomic sites were performed on these 8 cases with 2. 75 times on average (range, 1-5 times). All cases demonstrated a dense lymphoid infiltrate with significant cellular heteromorphism located in the subcutaneous tissue. CD_3 was positive in the majority of the cases.Immunostaining for γδTCR was positive in one case. The anti-rheumatic therapy including steroids and immunosuppressants administered before the identification of SPTCL attained minimal therapeutic effect. In contrast, 6 cases gained partial response after chemotherapy except that the other 2 cases died of fatal pulmonary infiltration and subsequent infection. Conclusions SPTCL is a rare and heterogeneous entity which is unseldomly misdiagnosed as rheumatic disease. The anti-rheumatic therapy including steroids and immunosuppressants can attain minimal therapeutic effect. Early identification by means of histology and immunohistochemistry as well as immunostaining for PCR is critical for proper treatment.

Objective To improve the anderstanding of clinical profile of primary plasma cell leukemia.Methods Case report and literature review.Results A rare case of nervous system relapse in primary plasma cell leukemia was reported.Six patients were identified from the literature.The type of immunoglobulin included IgG(3 patients),IgD(2 patients).Clinical manifestations of nervous system were variable.The average interval from initial diagnosis to the development of nervous system relapse was 16.5 months.Plasma cells were found in cerebrospinal fluid in 4 patients.The mean surviaval time was 6.7 months after nervous system relapse.Conlusion Nervous system relapse in primary plasma cell leukemia is rare with poor prognosis.

Objective To assess the status and severity of bone disease in patients with multiple myeloma (MM) by using chest computerized tomography (CT) and the relationship between clinical prognostic parameters and bone disease.Methods All 46 newly diagnosed MM in-patients received both imaging tests of chest CT and plain X ray.An experienced radiologist reviewed all the imaging data.Clinical laboratory parameters,stages of Durie-Salmon (DS) and International Staging System (ISS) were evaluated.Five cytogenetic abnormalities of bone marrow myeloma cells were tested by fluorescence in situ hybridization (FISH).Results The sensitivity of CT and X ray to determine pathological fractures was comparable,the positive rates of which were 41.3％ (19/46) and 30.4％ (14/46) respectively (P =0.29).Nevertheless,the positive rate of osteolytic lesions ascertained by CT was significantly higher than that by X ray (P ＜ 0.001),60.9％ (28/46) vs 13.0％ (6/46) with diameter 5-10 mm and 50.0％ (23/46) vs 10.9％ (5/ 46) with diameter more than 10 mm.Osteolytic lesion numbers found by CT were more than those by X ray [5(0-21) vs0(0-4) lesions with diameter5-10 mm (P＜0.001),2(0-14) vs0(0-2) lesions with diameter more than 10 mm (P ＜ 0.001),respectively].Patients with positive osteolytic lesions had higher percentage of RB1 gene deletion[46.7％ (14/30) vs 18.8％ (3/16),P ＜0.001],D13s319 deletion [43.3％ (13/30) vs 18.8％ (3/16),P ＜0.001] and high risk cytogenetic abnormalities[50.0％ (15/30) vs 25.0％ (4/16),P ＜ 0.001].Conclusions Chest CT is more sensitive than plain X ray in detecting osteolytic myeloma bone disease.Osteolysis determined by CT is relevant to clinical DS stages and risk stratification of cytogenetic abnormalities.

To establish the quality standard for Zhike Xiaoyan Zhitong lotion. Methods: Phellodendri chinensis Cor-tex, Angelicae sinensis Radix and Astragali Radix in the preparation were identified by TLC. The content of berberine hydrochloride, the effective component in Phellodendri chinensis Cortex, was determined by HPLC with the chromatographic conditions as follows: an Agilent 5 TC-C18 column (250 mm × 4. 6 mm, 5 μm) was used, the mobile phase was acetonitrile-0. 05 mol·L-1 potassium dihydro-gen phosphate (30∶70) with the flow rate of 1. 0 ml·min-1 , the detection wavelength was 265 nm, and the column temperature was at 30 ℃. Results:The spots of Phellodendri chinensis Cortex, Angelicae sinensis Radix and Astragali Radix in Zhike Xiaoyan Zhitong lotion on TLC were clear with strong specificity and without any interference from the negative controls. There was a good linear rela-tionship for berberine hydrochloride within the range of 0. 029-3. 628 μg(r=0. 999 9), and the average recovery was 97. 83% (RSD=2. 05%, n=6). Conclusion:The qualitative and quantitative methods are accurate, reliable and repeatable, which can effectively control the inherent quality of Zhike Xiaoyan Zhitong lotion.

We report the implantation genetic testing and prenatal diagnosis of a family with neurofibromatosis type I (NF1). High-throughput sequencing combined with multiplex ligation-dependent probe amplification was performed to identify the pathogenic mutation sites, then verified by Sanger sequencing. The pathogenic mutation of c.4172G>C in the NF1 gene was found in the proband and his mother. After sequencing and single nucleotide polymorphism (SNP) haplotyping of the mutation sites in the embryos by establishing the SNP-linked haplotype, a well-developed blastocyst, without pathogenic mutations, was transplanted, and 28 d later, the ultrasound confirmed that the patient was pregnant. Amniotic fluid samples of the fetus were obtained at 19 +3 weeks for karyotyping and detection of the gene mutation site, which found the fetus did not carry the maternal c.4172G>C mutation of NF1 gene or any copy number variants of clear clinical significance. The patient delivered a healthy term girl by cesarean section, and no significant abnormalities were found during the follow-up to 10 months of age.

OBJECTIVE: To compare the performance of high-throughput sequencing technology in prenatal thalassemia screening in Zhuhai area through comparison with traditional methods. METHODS: A total of 1463 pregnant women were randomly selected. Following DNA extraction, high-throughput sequencing and conventional three-step thalassemia screening were carried out for each sample. Inconsistent results samples were validated by quantitative fluorescence PCR (QF-PCR) or Sanger sequencing. The results by the two methods were compared. RESULTS: Among the 1463 cases, 318 (21.74%) were detected by conventional method, which included 210 (14.35%) with α-thalassemia, 97 (6.63%) with β-thalassemia, 11 (0.75%) with composite α- and β-thalassemia. Meanwhile, 379 cases (25.91%) of thalassemia were detected by high-throughput sequencing, which included 260 (17.77%) with α-thalassemia, 107 (7.31%) with β-thalassemia, 12 (0.82%) with composite α- and β-thalassemia. Six one cases were missed by the conventional method, which yielded a missed diagnosis rate of 16.09%, including 50 cases of α- thalassemia,10 cases of β-thalassemia, and 1 case of α-compound β-thalassemia. No cases of thalassemia were missed by high-throughput sequencing, and 10 rare thalassemia genotypes were detected. CONCLUSION High-throughput sequencing technology can improve the detection rate of thalassemia and reduce the missed diagnosis rate. It has a high application value in prenatal thalassemia screening in Zhuhai area and can more effectively prevent the birth of patients with severe thalassemia.
China ; Female ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis/methods* ; Technology ; alpha-Thalassemia/genetics* ; beta-Thalassemia/genetics*

OBJECTIVE To investigate the influence of Huayu xiaozhong decoction （HXD） on inflammatory response in rats with deep vein thrombosis （DVT）. METHODS The male SD rats were divided into control group （CK group）， model group （Model group）， HXD low-dose group （HXD-L group， HXD 10.86 mg/kg）， HXD medium-dose group （HXD-M group， HXD 21.71 mg/kg）， HXD high-dose group （HXD-H group， HXD 32.57 mg/kg）， positive control group （LMWHS group， low molecular weight heparin sodium 600 IU/kg）， silent information regulator 2 （SIRT2） inhibitor group （AK-7 group， AK-7 20 mg/kg）， HXD-M+AK-7 group （HXD 21.71 mg/kg+AK-7 20 mg/kg）， with 12 rats in each group. Except for the CK group， the DVT rat was induced by the Reyers method in other groups； after modeling， administration groups were given relevant medicine intragastrically/intraperitoneally， once a day， for consecutive 2 weeks. Twenty-four hours after the last medication， the coagulation function indexes [activated partial thromboplastin time （APTT）， thrombin time （TT）， prothrombin time （PT）， fibrinogen （FIB）] and inflammatory indexes in serum and inferior vena cava tissue [interleukin-1β （IL-1β）， IL-6， tumor necrosis factor-α （TNF-α）] of rats were detected. The formation of thrombus was observed， and the wet and dry masses of the thrombus were weighed. The protein expressions of tissue factor （TF） and SIRT2 as well as the phosphorylation and acetylation levels of nuclear factor kappa B （NF-κB） p65 in inferior vena cava tissue were detected. RESULTS Compared with CK group， APTT， TT and PT of rats in Model group were shortened significantly（P＜0.05）； the content of FIB， the levels of IL-1β， IL-6 and TNF-α， wet weight and dry weight of venous thrombus， TF protein staining score， the phosphorylation and acetylation levels of NF-κB p65 protein increased significantly （P＜0.05）； the inferior vena cava was full of thrombus， and the protein expression of SIRT2 decreased （P＜0.05）. Compared with Model group， above indexes of HXD-L group， HXD-M group， HXD-H group and LMWHS group were improved， while the improvement effects of HXD-M group， HXD-H group and LMWHS group were significantly better than those of HXD-L group （P＜0.05）. The trends of the corresponding indicators in AK-7 group were opposite to the above （P＜0.05）； AK-7 attenuated the inhibitory effect of medium-dose HXD on the inflammatory response in model rats （P＜0.05）.CONCLUSIONS HXD may inhibit the inflammatory response of DVT rats by activating SIRT2/NF-κB signaling pathway.

Objective: To evaluate the feasibility and potential value of comprehensive geriatric assessment (CGA) in elderly (≥60 years) patients with newly diagnosed acute myeloid leukemia (AML) in China. Methods: The CGA results of 83 newly diagnosed AML (non-APL) patients from 16 hospitals in Beijing and Tianjin between March 2016 and December 2017 were prospectively collected and analyzed. The clinical data, treatment and follow-up information were also collected. Results: Of 83 newly diagnosed elderly AML patients, 81 patients (97.6%) completed all designated CGA assessment. The median number of impaired scales of the CGA assessment in the studied population was 2(0-6). Sixteen patients (19.3%) showed no impairments according to the geriatric assessment scales implem ented by this study. The distributions of impaired scales were as follows: impairment in ADL, 55.4%; IADL impairment, 42.2%; MNA-SF impairment, 48.2%; cognitive impairment, 15.7%; GDS impairment, 31.7%; HCT-CI impairment, 19.5%, respectively. In patients with "good" ECOG (n=46), the proportion of impairment for each CGA scale ranged from 6.5% to 37.0% and 32 patients (68.9%) had at least one impaired CGA scale. Survival analysis showed that the number of impaired scales of the CGA was significantly correlated with median overall survival (P=0.050). Conclusions CGA was a tool with feasibility for the comprehensive evaluation in elderly AML patients in China. Combined with age and ECOG, CGA may be more comprehensive in assessing patients’ physical condition.