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Objective:To comprehensively evaluated the quality of Sargentodoxae Caulis from different habitats with a combination of indexes and characteristic chromatogram method from Chinese Pharmcopoeia (Edition 2020). Methods:The contents of water content, total ash, ethanolic extract, sulfur dioxide residue, heavy metals and harmful elements, total phenols, chlorogenic acid, salidroside and characteristic chromatogram of 17 batches of Sargentodoxae Caulis were determined. The quality of Sargentodoxae Caulis was comprehensively evaluated by combining chemical pattern recognition method. Results:The water content, total ash content, extracts, and content determination of 17 batches of Sargentodoxae Caulis from different habitats complyed with the provisions of the Chinese Pharmcopoeia (Edition 2020). There were differences in the contents of extracts, chlorogenic acid, and salidroside, among which the content of Anhui origin was higher. A total of 8 common peaks were identified from the 17 batches samples. Conclusion:Comprehensive evaluation of multiple indicators can demonstrate the quality of Sargentodoxae Caulis more correctly, and shows that the quality of Sargentodoxae Caulis from different habitats is different. The quality of Sargentodoxae Caulis from Anhui is better than that from other habitats.
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Objective:To analyze the clinical features and genotypes of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations.Methods:Clinical data of 2 cases with mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations admitted in the Department of Pediatrics, Peking University First Hospital from February 2015 to July 2018 were retrospectively reviewed and followed up.Reported cases of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations were searched in online databases, including the PubMed, Wanfang, Chinese Journal Full-Text Database and VIP database from January 1975 to February 2020 with " NDUFAF5" as the key word.Through literature review, clinical features and genotypes of mitochondrial complex Ⅰ deficiency due to NDUFAF5 gene mutations were summarized.Results:Case 1 showed mentor and mental regression after infection at the age of 1 year and 4 months.The condition of case 1 remained stable at the age of 5 year and 6 months at the last follow-up.Brain magnetic resonance imaging (MRI) showed multiple lesions in the white matter of the frontal and parieto-occipital lobes, basal ganglia, thalamus, cerebellum, brain stem and corpus callosum.Case 2 showed rapidly bilateral visual impairment at the age of 7 years and 4 months.The patient′s vision moderately recovered at the age of 8 years and 8 months.Brain MRI showed midbrain, periaqueductal gray, medulla oblongata and putamen lesions.Spinal MRI showed continuous lesions in the cervical cord 1-4.Genetic test showed NDUFAF5 gene c. 764C>T (p.Ala255Val) and c. 508C>T (p.Arg170Trp), homozygous c. 836T>G (p.Met279Arg) mutations in case 1 and case 2 respectively.Through online searching, 6 reports involving 14 cases were retrieved.The most common clinical phenotype was Leigh syndrome.Two cases had disease onset during the neonatal period, and their disease progressed rapidly and died within 1 year old.Eleven cases had onset during the infantile period, and 72.7% (8/11 cases) of them had a normal development.The common initial symptoms were mental or motor regression, feeding difficulty and dystonia.Seventy-two point seven percent (8/11 cases) had acute/subacute onset after infection, showing paroxysmal deterioration, and died in infancy or childhood.One patient developed dystonia in childhood and visual impairment in adulthood.Conclusions:The onset age ranged from neonatal period to childhood in patients with NDUFAF5 gene mutations, and their clinical phenotypes vary a lot.The main clinical phenotype is Leigh syndrome.Disease onset during the infantile period is frequent, and mostly presents paroxysmal deterioration after infection, while disease onset in childhood is rare.
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OBJECTIVE：To compare the c hemical components differences of Inula japonica before and after honey-frying. METHODS：UPLC-MS/MS method was adopted. The determination was performed on Waters ACQUITY UPLC BEH C 18 column with mobile phase consisted of 0.1％ formic acid-acetonitrile （gradient elution ）at the flow rate of 0.3 mL/min. The column temperature was set at 30 ℃，and sample size was 5 µL. The electrospray ion source was scanned by positive ion mode. The first order mass spectrometry scanning range was m/z 70-1 050，the second order mass spectrometry scanning range was m/z 50-1 050， and the normalized collision energy was 40，60 eV ；mass spectrum type was the peak figure ，the flow rate of sheath gas was 35 arb，the auxiliary airflow speed was 10 arb，the spray voltage was 3.80 kV，the S-lens voltage was 50 V，the heating temperature was 350 ℃，and the capillary temperature was 350 ℃. The components were identified by Qual Browser 4.1.39.1 software， referring to the online high-resolution database mzCloud and local database OTCML of high-resolution mass spectrometry of TCM ， and combined with relevant literature. The principal component analysis （PCA）and orthogonal partial least squared-discriminant analysis（OPLS-DA）of I. japonica before and after honey-fried were performed by using SIMCA 14.1 statistical software ，and variable importance projection （VIP）value greater than 1 was used as the standard to screen the differential components before and after honey-frying. RESULTS ：A total of 29 common chemical components were identified from I. japonica and honey-fried I. japonica，including 5 phenolic acids as 1-caffeoylquinic acid ，chlorogenic acid and 3，5-dicaffeoylquinic acid ，12 flavonoids as quercetin，luteolin and evamectin ，as well as 12 sesquiterpene lactones as 1-O-acetylinula diester ，inula bicolor lactone B and 1-O-acetyl-6-O-isobutyryl inulin. The results of PCA showed that I. japonica and honey-fried I. japonica were located on both sides of the score diagram respectively. The results of OPLS-DA showed that the VIP values of 7 components were greater than 1，which were peak 19（britanin），peak 6（quercetagitrin），peak 1（1-caffeoylquinic acid ），peak 21（vitexicarpin），peak 20（tomentosin）， peak 13（spinacetin）and peak 3（daphnetin）. CONCLUSIONS ：After honey-fried ，the content of chemical components of I. japonica changed and decreased to a certain extent. Britanin ，quercetagitrin，1-caffeoylquinic acid ，tomentosin，vitexicarpin， spinacetin and daphnetin may be the differential components of I. japonica and honey-fried I. japonica .
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Objective@#To explore the injury pattern and features of peripheral nerve in congenital muscular dystrophy patients caused by LAMA2 gene mutation.@*Method@#Seventeen patients genetically or molecular pathologically diagnosed as LAMA2-related congenital muscular dystrophy were recruited in Peking University First Hospital between 2002 and 2015. All the patients received nerve conduction velocity (NCV) and needle electromyography tests. Clinical and laboratory examination data of the patients was retrospectively analyzed. The correlation between the NCV and disease course was determined by Pearson correlation analysis. Additionally, one patient underwent a sural nerve biopsy.@*Result@#Among these 17 identified patients (13 male and 4 female), all of them were diagnosed as congenital muscular dystrophy, and all of them underwent electrophysiological examination at ages between 1 month to 6 years. Electromyogram indicated seventeen patients of myogenic damage, of whom 10 cases were complicated with reduced NCV. Twenty-six of 95 analyzed nerves showed NCV slower than the normal average of contemporary in 17%-47%. Correlation analysis between NCV and the disease course indicated that NCV of median nerves, ulnar nerves, tibial nerves and common peroneal nerves were negatively associated with the disease course (r=-0.737, -0.771, -0.540 and -0.682, respectively; all P<0.05). Sural nerve biopsy revealed peripheral neuropathy changes of myelin.@*Conclusion@#There is peripheral nerve injury in LAMA2-related muscular dystrophy patients. It mainly manifests as demyelinating lesions. Moreover, the NCV of peripheral nerve will decrease with the increase of the course of the disease.
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<p><b>OBJECTIVE</b>To elucidate the usefulness of next generation sequencing for diagnosis of inherited myopathy, and to analyze the relevance between clinical phenotype and genotype in inherited myopathy.</p><p><b>METHOD</b>Related genes were selected for SureSelect target enrichment system kit (Panel Version 1 and Panel Version 2). A total of 134 patients who were diagnosed as inherited myopathy clinically underwent next generation sequencing in Department of Pediatrics, Peking University First Hospital from January 2013 to June 2014. Clinical information and gene detection result of the patients were collected and analyzed.</p><p><b>RESULT</b>Seventy-seven of 134 patients (89 males and 45 females, visiting ages from 6-month-old to 26-year-old, average visiting age was 6 years and 1 month) underwent next generation sequencing by Panel Version 1 in 2013, and 57 patients underwent next generation sequencing by Panel Version 2 in 2014. The gene detection revealed that 74 patients had pathogenic gene mutations, and the positive rate of genetic diagnosis was 55.22%. One patient was diagnosed as metabolic myopathy. Five patients were diagnosed as congenital myopathy; 68 were diagnosed as muscular dystrophy, including 22 with congenital muscular dystrophy 1A (MDC1A), 11 with Ullrich congenital muscular dystrophy (UCMD), 6 with Bethlem myopathy (BM), 12 with Duchenne muscular dystrophy (DMD) caused by point mutations in DMD gene, 5 with LMNA-related congenital muscular dystrophy (L-CMD), 1 with Emery-Dreifuss muscular dystrophy (EDMD), 7 with alpha-dystroglycanopathy (α-DG) patients, and 4 with limb-girdle muscular dystrophy (LGMD) patients.</p><p><b>CONCLUSION</b>Next generation sequencing plays an important role in diagnosis of inherited myopathy. Clinical and biological information analysis was essential for screening pathogenic gene of inherited myopathy.</p>