Objective To evaluate our results of external quality assessment (EQA) program of the newborn screening laboratory for 6 years, summarize the problems in the screening measurement and improve the quality of measurement.Methods The phenylalanine (Phe) and thyrotropin (TSH) values in dried blood spot specimens on filter paper distributed by national center were measured by fluorometric method and time -resolved fluorescence im-munoassay ( DELFIA ) respectively.The results sent by national center were analyzed .Results In the 90 specimens of 18 batches, the bias range of Phe and TSH measurement was wide (-62.50%~66.67%and-66.67%~54.31%respectively) and their average values were 8.62%and 10.18% respectively;85 quantitative results of Phe and 84 quantitative results of TSH measurement were in the quality control , accounting for 94.44%and 93.33%respective-ly.The qualitative analysis of 90 Phe and TSH specimens all conformed to the expected results , accounting for 100%.The result of every batch was up to 80%.Conclusion Our neonatal screening laboratory is in control and it is useful to evaluate the measurement competence , find out the problems in the Phe and TSH measurement and re-solve them in time through participated in the national EQA in neonatal screening laboratory , so as to improve the quality of measurement and ensure the accuracy and reliability of results .

Object To study the chemical constituents of our folk herb, Cucubalus baccifer L Methods The components were separated on Diaion HP 20 and silica gel column chromatography and the structures were identified by spectral evidence Results Six compounds from ethyl acetate extracts were elucidated as 6? methoxy piperidin 2 one (Ⅰ), pterolactam (Ⅱ), 5, 7, 4′ trihydroxyflavone (Ⅲ), 4 hydroxy 3 methoxybenzopropanyl acid (Ⅳ), 4 hydroxybenzoaldehyde (Ⅴ), and 4 hydroxybenzoic acid (Ⅵ) Conclusion Compound Ⅰ was a new naturally occurring compound and others were first isolated from this plant

OBJECTIVETo screen for KIT gene mutations in two Han Chinese pedigrees affected with Piebaldism.

METHODSClinical data of the pedigrees was collected. Genomic DNA was extracted from blood samples collected from the pedigrees and 120 unrelated healthy controls. All coding exons of the KIT gene were subjected to PCR amplification and direct sequencing.

RESULTSTwo missense mutations, c.1861G>A(p.Ala621Thr) and c.1872G>A(p.Met624Ile), were identified respectively in the two pedigrees. Neither mutation was found among healthy members from the respective pedigree and the 120 unrelated healthy controls. c.1872G>A is a novel mutation.

CONCLUSIONMutations of the KIT gene may affect the structure and function of the transmembrane receptor KIT, which lead to the disease.

Objective: To report clinical feature and results of genetic analysis of 3 patients from 2 families with Finnish variant late infantile neuronal ceroid lipofuscinosis. Methods: The clinical and ultrastructural features of 3 patients with progressive neurodegenerative diseases were retrospectively analyzed from October 2014 to December 2016 in Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center. The whole exon sequencing and Sanger sequencing were used to analyze the molecular genetics of the patients and their parents. Results: The probands were 11 years and 3 moths, 9 years and 1 month,10 years and 1 month old. All were normal at birth, and from 5-6 years old they began to develop "regression of cognition and motion, impaired vision". Physical examination at the first consultation: clear minded butignorant, unable to speak and understand instructions, unable to stand up and sit alone, unable to maintain postureupright. The brain magnetic resonance imaging(MRI) indicated diffuse cerebral and cerebellar atrophy, white matter damage. Blood biochemistry, lactic acid, acid-base balancewere normal. Electron microscopic examination of peripheral blood lymphocytes showed swelling of the nucleus, autophagy, intracellular massive deposits and abnormal vacuoles. Two compound heterozygous c.334C> T (p.Arg112Cys) and c.595C> T (p.Arg199Ter) mutations of CLN5 gene were identified in the two siblings, and the proband 3 was c.335G> A (p.Arg199His) homozyousmutation, which were inherited from their unaffected parents. Conclusions The 3 cases with Finnish variant late infantileneuronal ceroid lipofuscinosises were normal at birth, cognitive and motor function was regressed at preschool age.Brain MRI showed whole brain atrophy, white matter lesions, there were no bovious difference from other neurodegenerative diseases. Blood biochemistry and pathological examination of lymphocytes had no specific changes. The pathogenic genes were CLN5,most are inherited in autosomal recessive way.