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Cosmetics have a long history in China, but their origins remain unclear. Cosmetic industry potentially originated in the Spring and Autumn Period (770–476 bce), but little is known about the early manufacture and use of cosmetics. The Liujiawa site, located on the southern edge of the Loess Plateau in northern China, was the late capital of the ancient Rui state in the early to mid‐Spring and Autumn Period. During the excavation, a sealed small and exquisite container with suspected cosmetic use was unearthed from tomb M49 belonging to a male associated with the aristocratic class. We report in this paper the multidisciplinary application of ATR‐FTIR, XRD, SEM, stable isotope analysis, GC‐MS and GC‐C‐IRMS analysis of the residue inside the container, demonstrating that the residue, which was made of ruminant adipose fat mixed with monohydrocalcite from cave moonmilk, was likely used as cosmetic face cream by the nobleman of the Rui state. This study provides an early example of cosmetic production in China, and, together with the prevalence of similar cosmetic containers during this period, it suggests the rise of an incipient cosmetics industry. Furthermore, the exploitation of moonmilk, a special stalactite in some limestone caves, reflects the link between early Taoist School and cosmetic production encouraged by the aristocratic class. [ABSTRACT FROM AUTHOR]

Auditory neuropathy spectrum disorder ( ANSD) is one of the most common diseases leading to hearing and speech communication barriers in infants and young children. The OTOF gene is the first gene identified for autosomal recessive non-syndromic ANSD, and patients with OTOF mutations have shown marked improvement of auditory functions from the cochlear implantation, but the true involvement of OTOF mutations in Chinese ANSD patients is still unknown which precludes the effective management of this disease. Here, we investigated the contribution of OTOF mutations to congenital ANSD patients in China. In all, 37 infants and young Children with ANSD were screened for all the exons of OTOF gene, of them 34 patients had no neonatal risk factors who were considered as congenital ANSD. The clinical manifestation and audiometric features were also investigated and compared in patients with and without OTOF mutations. In all, 14 of these subjects were shown to carry two or three mutant alleles of OTOF with the high frequency of 41.2% in congenital ANSD patients. In total, 15 novel pathogenic mutations and 10 reported mutations were identified. Our results confirmed that mutations in OTOF gene were a major cause of congenital ANSD in China. Identification of OTOF mutations can facilitate diagnosis, clinical intervention and counseling for congenital ANSD. [ABSTRACT FROM AUTHOR]

The article presents analysis of C5 and C3 gene polymorphism in 220 Chinese patients with paroxysmal nocturnal hemoglobinuria untreated with eculizumab and 259 healthy controls to predict possible efficacy of eculizumab in Chinese patients. Topics include research approved by the Institutional Review Board of the Peking Union Medical College Hospital; control of intravascular hemolysis by eculizumab; and disease such as systemic vasculitis associated with C3 single nucleotide polymorphism.

Background: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups.Methods: In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced.Results: A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups.Conclusion: In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary. [ABSTRACT FROM AUTHOR]