Galli Gigerii Endothelium Corneum(GGEC), the dried gizzard membrane of Gallus gallus domesticus is a Chinese medicinal material commonly used for digestion. However, due to the particularity of texture and composition, its active ingre-dients have not been clarified so far, and there is also a lack of quality evaluation indicators. In this study, UPLC-Q-TOF-MS was used to analyze the chemical components from the water extract of GGEC, and ten nucleosides were identified for the first time. HPLC fingerprints of the water extracts of GGEC were established and the content of seven nucleosides was determined. The fingerprint similarities of 40 batches of GGEC samples ranged from 0.765 to 0.959, indicating that there were great differences among the GGEC products processed with different methods. In addition, SPSS 22.0 and SIMCA 14.1 were used for hierarchical cluster analysis(HCA) and principal component analysis(PCA) on the 19 common peaks of the HPLC fingerprints of GGEC, and the 40 batches of samples were divided into three categories: raw GGEC, fried GGEC and vinegar-processed GGEC. Eight differential components in GGEC were marked by orthogonal partial least squares discrimination analysis(OPLS-DA), two of which were adenine and thymine. The results of content determination showed that the total content of the seven nucleosides in raw GGEC, fried GGEC and vinegar-processed GGEC were 182.5-416.8, 205.3-368.7, and 194.2-283.0 μg·g~(-1), respectively. There were significant differences in the content of hypoxanthine, thymine and thymidine among the GGEC products processed with different methods(P<0.05), which were graded in the order of fried GGEC>vinegar-processed GGEC>raw GGEC. This suggested that the content of hypoxanthine, thymine and thymidine tended to increase during the frying process, and the variation range might be related to the degree of heat exposure. The established methods in this study were simple and reproducible, and could be used for qualitative and quantitative analysis of GGEC and its processed pro-ducts. This study also provided reference for the establishment of quality standards of GGEC with chemical components as control index.
Nucleosides ; Drugs, Chinese Herbal/chemistry* ; Chromatography, High Pressure Liquid ; Acetic Acid ; Thymine ; Thymidine ; Water ; Hypoxanthines

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
Aged ; CADASIL* ; Cell Cycle ; Codon ; Cognition Disorders ; Cytosine ; Exons ; Female ; Headache ; Humans ; Memory ; Migraine Disorders ; Mutation, Missense* ; Proline ; Serine ; Stroke ; Thymine

OBJECTIVETo establish a rapid and convenient method of DNA modification by bisulfite sodium for the detection of DNA methylation.

METHODSThrough increasing the bisulfite sodium concentration and the temperature of treatment, cutting down the modification time, besides using glassmilk to adsorb the DNA in the purification and recovery, to improve the methods of DNA modification. Efficiency of cytosine converted to thymine in MAGE-A3 gene and DAP-K gene fragments were analyzed by bisulfite sequencing PCR in order to evaluate the DNA modification effect among the improved method, traditional method and kit method.

RESULTSThe operating time of test was shortened to about 3 hours by the improved method; conversion rate of unmethylated cytosine to thymine was over 99%; compared with the traditional method and kit method, there was no significant difference (χ(2) = 0.0564, P > 0.05); the improved method was only for the unmethylated cytosine conversion modification, and there was no significant difference in process of methylated cytosine converted to thymine comparing with the traditional method (χ(2) = 0.0149, P > 0.05).

CONCLUSIONThe improved method has high efficiency of DNA modification and has no significant effect on excessive modification;meanwhile, it has many advantages such as time-saving and easy to operate etc.

Cytosine ; chemistry ; DNA ; chemistry ; DNA Methylation ; Polymerase Chain Reaction ; Sulfites ; chemistry ; Thymine ; chemistry

Thrombotic thrombocytopenic purpura and hemolytic uremic syndrome (TTP-HUS) is an acute condition with abnormalities of multiple organ systems. It is characterized by microangiopathic hemolytic anemia and thrombocytopenia. Several chemotherapeutic agents have been implicated in causing TTP-HUS. We report a case of TTP-HUS during treatment with sunitinib in a patient with metastatic renal cell carcinoma. A 53-year-old woman visited our hospital for fever and cough. She was diagnosed with sunitinib-induced TTP. Discontinuation of sunitinib and plasmapheresis improved her TTP. When she experienced disease progression after a prolonged period without treatment, sorafenib was tried, resulting in a partial response without recurrence of TTP-HUS.
Anemia, Hemolytic ; Carcinoma, Renal Cell ; Cough ; Disease Progression ; Female ; Fever ; Hemolytic-Uremic Syndrome ; Humans ; Indoles ; Niacinamide ; Phenylurea Compounds ; Plasmapheresis ; Purpura, Thrombotic Thrombocytopenic ; Pyrroles ; Recurrence ; Thrombocytopenia ; Thymine Nucleotides

INTRODUCTIONThe G2385R and R1628P LRRK2 gene variants have been associated with an increased risk of Parkinson's disease (PD) in the Asian population. Recently, a new LRRK2 gene variant, A419V, was reported to be a third risk variant for PD in Asian patients. Our objective was to investigate this finding in our cohort of Asian subjects.

MATERIALS AND METHODSEight hundred and twenty-eight subjects (404 PD patients, and 424 age and gender-matched control subjects without neurological disorders) were recruited. Genotyping was done by Taqman® allelic discrimination assay on an Applied Biosystems 7500 Fast Real-Time PCR machine.

RESULTSThe heterozygous A419V genotype was found in only 1 patient with PD, compared to 3 in the control group (0.4% vs 1.3%), giving an odds ratio of 0.35 (95% confidence interval (CI), 0.01 to 3.79; P = 0.624).

CONCLUSIONA419V is not an important LRRK2 risk variant in our Asian cohort of patients with PD. Our data are further supported by a literature review which showed that 4 out of 6 published studies reported a negative association of this variant in PD.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Alanine ; genetics ; Case-Control Studies ; China ; ethnology ; Cohort Studies ; Cytosine ; Female ; Gene Frequency ; Genetic Variation ; genetics ; Genotype ; Heterozygote ; Humans ; India ; ethnology ; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 ; Malaysia ; ethnology ; Male ; Middle Aged ; Parkinson Disease ; genetics ; Polymorphism, Genetic ; genetics ; Protein-Serine-Threonine Kinases ; genetics ; Risk Factors ; Singapore ; Thymine ; Valine ; genetics ; Young Adult

Eighteen compounds were isolated by a combination of various chromatographic techniques including column chromatography over macroporous resin, MCI gel, silica gel, and sephadex LH-20 and reversed-phase HPLC. Their structures were elucidated by spectroscopic data analysis as adinoside A (1), stryspinoside (2), benzyl alcohol beta-glucopyranoside (3), benzyl 2-o-beta-D-glucopyranosyl-2,6-dihydroxybenzoate (4) , gentisic acid 2-O-beta-D-glucopyranoside (5), eugenyl beta-D-glucopyranoside (6) , eugenyl-P-xylopyranosyl-(1-->6)-beta-glucopyranoside (7), (-)-lyoniresinol 9-O-fP-D-glucopyranoside (8) , (+)-lyoniresinol 9-O-beta-D-glucopyranoside (9) , apigenin-7-O-L-rhamnopyranoside (10), luteolin-3 '-O-L-rhamnoside (11) , ursolic acid (12) , beta-sitosteryl-3beta-glucopyranoside-6'-O-palmitate (13), abscisic acid (14), guanosine (15), 5-methyluracil (16), trans-cinnamic acid (17), and 4-hydroxybenzaldehyde(18). These compounds were obtained from this plant for the first time.
Benzaldehydes ; analysis ; Flowers ; chemistry ; Gentisates ; analysis ; Glucosides ; analysis ; Hydroxybenzoates ; analysis ; Lonicera ; chemistry ; Luteolin ; analysis ; Thymine ; analysis ; Triterpenes ; analysis

Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17q11.2. Patients with NF1 are at increased risk of developing soft tissue sarcomas that arise within the stromal compartment of the gastrointestinal tract, termed gastrointestinal stromal tumors (GISTs). GISTs associated with neurofibromatosis differ from sporadic GISTs, particularly with respect to their lower response rate to imatinib. We recently experienced a case involving a 45-year-old man with NF1 who was admitted to the hospital with epigastric pain and vomiting. Abdominal computed tomography revealed a duodenal GIST with pancreatic invasion. He had a base substitution mutation involving replacement of 2041 cytosine with thymine. He was treated successfully with a surgical operation and adjuvant imatinib therapy.
Benzamides ; Cytosine ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genes, Neurofibromatosis 1 ; Humans ; Middle Aged ; Neural Plate ; Neurofibromatoses* ; Neurofibromatosis 1* ; Piperazines ; Pyrimidines ; Sarcoma ; Thymine ; Vomiting ; Imatinib Mesylate

Neurofibromatosis type 1 (NF1) is a genetic disease characterized by neoplastic and non-neoplastic disorders involving tissues of neuroectodermal and mesenchymal origin. NF1 is caused by mutations in the NF1 gene, which is found on chromosome 17q11.2. Patients with NF1 are at increased risk of developing soft tissue sarcomas that arise within the stromal compartment of the gastrointestinal tract, termed gastrointestinal stromal tumors (GISTs). GISTs associated with neurofibromatosis differ from sporadic GISTs, particularly with respect to their lower response rate to imatinib. We recently experienced a case involving a 45-year-old man with NF1 who was admitted to the hospital with epigastric pain and vomiting. Abdominal computed tomography revealed a duodenal GIST with pancreatic invasion. He had a base substitution mutation involving replacement of 2041 cytosine with thymine. He was treated successfully with a surgical operation and adjuvant imatinib therapy.
Benzamides ; Cytosine ; Gastrointestinal Stromal Tumors* ; Gastrointestinal Tract ; Genes, Neurofibromatosis 1 ; Humans ; Middle Aged ; Neural Plate ; Neurofibromatoses* ; Neurofibromatosis 1* ; Piperazines ; Pyrimidines ; Sarcoma ; Thymine ; Vomiting ; Imatinib Mesylate

PURPOSE: To determine the quantitative parameters of breast MRI that predict tumor invasion in biopsy-proven DCIS. MATERIALS AND METHODS: From January 2009 to March 2010, 42 MRI examinations of 41 patients with biopsy-proven DCIS were included. The quantitative parameters, which include the initial percentage enhancement (E1), peak percentage enhancement (E(peak)), time to peak enhancement (TTP), signal enhancement ratio (SER), arterial enhancement fraction (AEF), apparent diffusion coefficient (ADC) value, long diameter and the volume of the lesion, were calculated as parameters that might predict invasion. Univariate and multivariate analyses were used to identify the parameters associated with invasion. RESULTS: Out of 42 lesions, 23 lesions were confirmed to be invasive ductal carcinoma (IDC) and 19 lesions were confirmed to be pure DCIS. Tumor size (p = 0.003; 6.5 +/- 3.2 cm vs. 3.6 +/- 2.6 cm, respectively) and SER (p = 0.036; 1.1 +/- 0.3 vs. 0.9 +/- 0.3, respectively) showed statistically significant high in IDC. In contrast, E1, Epeak, TTP, ADC, AEF and volume of the lesion were not statistically significant. Tumor size and SER had statistically significant associations with invasion, with an odds ratio of 1.04 and 22.93, respectively. CONCLUSION: Of quantitative parameters analyzed, SER and the long diameter of the lesion could be specific parameter for predicting invasion in the biopsy-proven DCIS.
Breast ; Carcinoma in Situ ; Carcinoma, Ductal ; Carcinoma, Intraductal, Noninfiltrating ; Diffusion ; Humans ; Lymphokines ; Magnetic Resonance Imaging ; Multivariate Analysis ; Odds Ratio ; Thymine Nucleotides

Although thrombotic thrombocytopenic purpura (TTP) is a rare disease, when it develops in a post-cardiac surgery patient, it may have a fatal outcome. Since the frequency of early-onset thrombocytopenia in post-cardiac surgery patients is high, platelet concentrates are commonly transfused during postoperative management. However, when TTP is the likely diagnosis, platelet transfusion is not recommended. We experienced a postoperative TTP in a cardiac surgery patient and discovered the importance of identifying the etiology of postoperative thrombocytopenia. Here, we report the case with a brief review of the literature.
Blood Platelets ; Fatal Outcome ; Humans ; Platelet Transfusion ; Purpura, Thrombotic Thrombocytopenic ; Rare Diseases ; Thoracic Surgery ; Thrombocytopenia ; Thymine Nucleotides