Objective To investigate the clinical, pathological and dynamic imaging characteristics of patients with mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes (MELAS). Methods A retrospective analysis was performed on the clinical,pathological and dynamic imaging data of 10 patients with MELAS confirmed by muscle biopsy. Results The clinical manifestations included headache,seizures,nausea,vomiting,nystagrnus and visual disturbances.CT showed less lesions,and MRI could clearly show multiple lesions which mainly located in the temporal,parietal,occipital cortex and sub-cortex,having multifocal,asymmetric,migratory characterstics and not following the distribution of blood vessels.MRA showed no significant stenosis,and the lesion showed hyperperfusion and vasogenic edema,and Lae peak was visible.Muscle biopsy showed ragged red fiber optical microscope (RRF) and strongly SDH-reactive vessel (SSV),and electron microscope showed increased mitochondria number, and abnormal size and shape. Conclusion MELAS has certain clinical and imaging characteristics; by combining the muscle biopsy,we can diagnose the disease early and make differential diagnosis.

In order to analyze the clinical features and laboratory findings in patients with acquired hemophilia A, one case of acquired hemophilia A was studied, the medical history, clinical features, ultrasonography and laboratory examination including activated partial thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT) and FVIII:C, FIX:C, FXI:C, FXII:C ratio, as well as medical treatment were analyzed. The results showed 99.3 sec of APTT, 13 sec of PT, and 13.5 sec of TT, 2% of FVIII:C, 7% of FIX:C, 9% of FXI:C and 21% of FXII:C. The prolongation of APTT could not be completely corrected by mixing the patient plasma with an equal volume of normal fresh plasma; the APTT increased with prolongation of incubation time, when patient plasma was mixed with an equal volume of normal fresh plasma and incubated at 37 degrees C. The plasma FVIII:C, FIX:C, FXI:C and FXII:C levels in patient were 6%, 75%, 95% and 123% respectively, when patient's plasma was diluted by tenfold and mixed with an equal volume of non-diluted normal plasma. FVIII inhibitor in the patient's serum was at a level >32.0 Bethesda units/ml after acquired hemophilia was diagnosed, the patient was admitted to hospital and given orally prednisone and azathioprine therapy. One month later, clinical status of the patient were improved with 33.3 seconds of APTT, 128% of FVIII level and elimination of FVIII inhibitor. In conclusion, inquiring case history, analyzing imaging results, detecting level of APTT, performing dilution test and assaying titer of FVIII inhibitor can reduce misdiagnosis and wrong therapy for patients with acquired hemophilia A. The FVIII inhibitor can be eliminated and function of clotting can be recovered by using immunosuppressive therapy.
Factor VIII ; analysis ; antagonists & inhibitors ; Female ; Hemophilia A ; blood ; diagnosis ; Humans ; Middle Aged

OBJECTIVETo identify the gene mutations in a pedigree with hereditary hemorrhagic telangiectasia.

METHODSGenomic DNA was extracted from the peripheral blood of the propositus. All of the exons, intron/exon boundaries and the 5' untranslation regions (UTR) of the ALK-1 and endoglin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing.

RESULTSThe mutation is a C1437T substitution in exon 10 of the ALK-1 gene, resulting in Arg 479 Stop.

CONCLUSIONThe hereditary hemorrhagic telangiectasia propositus is caused by a heterozygous Arg 479 Stop mutation in the ALK-1 gene which has not been identified previously.

Activin Receptors, Type II ; genetics ; Aged ; Antigens, CD ; genetics ; Base Sequence ; Codon, Nonsense ; DNA Mutational Analysis ; Exons ; genetics ; Female ; Humans ; Male ; Pedigree ; Point Mutation ; Receptors, Cell Surface ; genetics ; Telangiectasia, Hereditary Hemorrhagic ; genetics ; pathology

Adolescent ; Adult ; Aged ; Child ; Endoscopy, Gastrointestinal ; methods ; Female ; Gastrointestinal Hemorrhage ; diagnosis ; pathology ; Humans ; Male ; Middle Aged

Applying Chinese medicine (CM) is an important strategy for malignant tumor treatment in China. One of the significant characteristics of CM is to treat diseases based on syndrome differentiation. For Western medicine, it is of important clinical significance to formulate guidelines for the diagnosis and treatment of cancer patients based on the characteristics of disease differentiation. In Chinese clinical practice, the combination of disease differentiation and syndrome differentiation is an important feature for cancer treatment in the past. Currently, molecular profiling and genomic analysis-based precision medicine optimizes the anticancer drug design and holds the greatest success in treating cancer patients. Therefore, we want to know which populations of cancer patients can benefit more from CM treatment if the theory of precision medicine is applied to CM clinical practice. So, we developed a novel diagnostic and therapeutic strategy "disease-syndrome differentiation-genomic profiling-prescriptions" for cancer patients by CM syndrome differentiation and precision medicine. As a result, this strategy has greatly enhanced the anti-tumor efficacy of CM and improved clinical outcomes for cancer patients with some gene mutations. Our idea will hopefully establish a novel approach for the inheritance and innovation of CM.
Antineoplastic Agents ; Drugs, Chinese Herbal/therapeutic use* ; Humans ; Medicine, Chinese Traditional ; Neoplasms/therapy* ; Precision Medicine ; Syndrome

Objective: Compare and analyze the results of the domestic Lanyi AH600 glycated hemoglobin analyzer and other different detection systems to understand the comparability of the detection results of different detectors, and establish the best cut point of Lanyi AH600 determination of haemoglobin A1c (HbA1c) in the diagnosis of diabetes. Methods: Multi center cohort study was adopted. The clinical laboratory departments of 18 medical institutions independently collected test samples from their respective hospitals from March to April 2022, and independently completed comparative analysis of the evaluated instrument (Lanyi AH600) and the reference instrument HbA1c. The reference instruments include four different brands of glycosylated hemoglobin meters, including Arkray, Bio-Rad, DOSOH, and Huizhong. Scatter plot was used to calculate the correlation between the results of different detection systems, and the regression equation was calculated. The consistency analysis between the results of different detection systems was evaluated by Bland Altman method. Consistency judgment principles: (1) When the 95% limits of agreement (95% LoA) of the measurement difference was within 0.4% HbA1c and the measurement score was≥80 points, the comparison consistency was good; (2) When the measurement difference of 95% LoA exceeded 0.4% HbA1c, and the measurement score was≥80 points, the comparison consistency was relatively good; (3) The measurement score was less than 80 points, the comparison consistency was poor. The difference between the results of different detection systems was tested by paired sample T test or Wilcoxon paired sign rank sum test; The best cut-off point of diabetes was analyzed by receiver operating characteristic curve (ROC). Results: The correlation coefficient R² of results between Lanyi AH600 and the reference instrument in 16 hospitals is≥0.99; The Bland Altman consistency analysis showed that the difference of 95% LoA in Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180) was -0.486%-0.325%, and the measurement score was 94.6 points (473/500); The difference of 95% LoA in the Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant II) was -0.727%-0.612%, and the measurement score was 89.8 points; The difference of 95% LoA in the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT) was -0.231%-0.461%, and the measurement score was 96.6 points; The difference of 95% LoA in the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT) was -0.469%-0.479%, and the measurement score was 91.9 points. The other 14 hospitals, Lanyi AH600, were compared with 4 reference instrument brands, the difference of 95% LoA was less than 0.4% HbA1c, and the scores were all greater than 95 points. The results of paired sample T test or Wilcoxon paired sign rank sum test showed that there was no statistically significant difference between Lanyi AH600 and the reference instrument Arkray HA8180 (Z=1.665,P=0.096), with no statistical difference. The mean difference between the measured values of the two instruments was 0.004%. The comparison data of Lanyi AH600 and the reference instrument of all other institutions had significant differences (all P<0.001), however, it was necessary to consider whether it was within the clinical acceptable range in combination with the results of the Bland-Altman consistency analysis. The ROC curve of HbA1c detected by Lanyi AH600 in 985 patients with diabetes and 3 423 patients with non-diabetes was analyzed, the area under curve (AUC) was 0.877, the standard error was 0.007, and the 95% confidence interval 95%CI was (0.864, 0.891), which was statistically significant (P<0.001). The maximum value of Youden index was 0.634, and the corresponding HbA1c cut point was 6.235%. The sensitivity and specificity of diabetes diagnosis were 76.2% and 87.2%, respectively. Conclusion: Among the hospitals and instruments currently included in this study, among these four hospitals included Nanjing Maternity and Child Health Care Hospital in Jiangsu Province (reference instrument: Arkray HA8180), Tibetan Traditional Medical Hospital of TAR (reference instrument: Bio-Rad Variant Ⅱ), the People's Hospital of Chongqing Liang Jiang New Area (reference instrument: Huizhong MQ-2000PT), and the Taihe Hospital of traditional Chinese Medicine in Anhui Province (reference instrument: Huizhong MQ-2000PT), the comparison between Lanyi AH600 and the reference instruments showed relatively good consistency, while the other 14 hospitals involved four different brands of reference instruments: Arkray, Bio-Rad, DOSOH, and Huizhong, Lanyi AH600 had good consistency with its comparison. The best cut point of the domestic Lanyi AH600 for detecting HbA1c in the diagnosis of diabetes is 6.235%.
Pregnancy ; Child ; Humans ; Female ; Glycated Hemoglobin ; Cohort Studies ; Diabetes Mellitus/diagnosis* ; Sensitivity and Specificity ; ROC Curve