Problems of literary reform in modern China.

The period following the fall of the Manchu dynasty in 1911 was one of rapid economic and social change in China. It created conditions favourable for the development of the New Culture Movement which started during the Great war, and reached its climax in 1919.Two of the basic features of this movement were the introduction of ideas from the West and the reassessment of Chinese traditions from the standpoint of those ideas. The Literary Revolution was an integral part of the New Culture Movement, which, after an initial period of discussion and debate, undertook the task of building a new Chinese literature with a new humanist or revolutionary content, and with forms copied from, or inspired by. Western literature. The problems which this task of construction involved were many and varied. During the next few years the literature of many periods and countries was introduced into China, and the new writers experimented with numerous forms. Ultimately, those which accorded most closely with the needs of Chinese literature, and especially with the social conditions and demands of the Chinese revolution, which had a determining influence on it, were successfully adopted, and fused with the Chinese tradition. The writer who best succeeded in mastering these problems of selection and synthesis was Lu Hsun, who, while benefiting from the example of Western writers, especially Russian, at the same time retained a Chinese character and style, not only through the subject matter of his work, but also from his knowledge and keen appreciation of old Chinese literature

Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

OBJECTIVE: To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS: Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts. RESULTS: A novel HSPB1 variant (c.387C>G, p.Asp129Glu) segregated with the phenotype and was predicted to alter the conserved α-crystallin domain common to small heat shock proteins. At baseline, there was no difference in HSPB1 protein levels nor its binding partner αB-crystallin. Heat shock treatment increased HSPB1 protein levels in both patient-derived and control fibroblasts, but the associated increase in αB-crystallin expression was greater in patient-derived than control fibroblasts. CONCLUSIONS: The HSPB1 variant (c.387C>G, p.Asp129Glu) is the likely cause of distal neuromyopathy in this pedigree with pathogenic effects mediated through binding to its partner heat shock protein αB-crystallin. Mutations in HSBP1 classically cause a motor axonopathy, but this family shows that the distal weakness can be both myopathic and neuropathic. The traditional clinical classification of distal weakness into "myopathic" or "neuropathic" forms may be misleading in some instances, and future treatments need to address the pathology in both tissues.This study was funded by Wellcome Trust (101876/Z/13/Z and 096919Z/11/Z), Medical Research Council (UK) (G0601943), and Medical Research Council Mitochondrial Biology Unit (MC_UP_1501/2). Funding bodies had no influence on study design or data interpretation.This is the final version of the article. It first appeared from Wolters Kluwer via http://dx.doi.org/10.1212/NXG.000000000000011

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot–Marie–Tooth disease type 2A and autosomal dominant optic atrophy, respectively. We report a large family with optic atrophy beginning in early childhood, associated with axonal neuropathy and mitochondrial myopathy in adult life. The clinical presentation looks like the autosomal dominant optic atrophy ‘plus’ phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A&gt;T, p.D210V). Multiple mitochondrial DNA deletions were found in skeletal muscle and this observation makes MFN2 a novel gene associated with ‘mitochondrial DNA breakage’ syndrome. Contrary to previous studies in patients with Charcot–Marie–Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 protein expression. Furthermore, we show for the first time that impaired mitochondrial fusion is responsible for a deficiency to repair stress-induced mitochondrial DNA damage. It is likely that defect in mitochondrial DNA repair is due to variability in repair protein content across the mitochondrial population and is at least partially responsible for mitochondrial DNA instability. <br/

MFN2 mutations cause compensatory mitochondrial DNA proliferation.

MFN2 and OPA1 genes encode two dynamin-like GTPase proteins involved in the fusion of the mitochondrial membrane. They have been associated with Charcot–Marie–Tooth disease type 2A and autosomal dominant optic atrophy, respectively. We report a large family with optic atrophy beginning in early childhood, associated with axonal neuropathy and mitochondrial myopathy in adult life. The clinical presentation looks like the autosomal dominant optic atrophy ‘plus’ phenotype linked to OPA1 mutations but is associated with a novel MFN2 missense mutation (c.629A&gt;T, p.D210V). Multiple mitochondrial DNA deletions were found in skeletal muscle and this observation makes MFN2 a novel gene associated with ‘mitochondrial DNA breakage’ syndrome. Contrary to previous studies in patients with Charcot–Marie–Tooth disease type 2A, fibroblasts carrying the MFN2 mutation present with a respiratory chain deficiency, a fragmentation of the mitochondrial network and a significant reduction of MFN2 protein expression. Furthermore, we show for the first time that impaired mitochondrial fusion is responsible for a deficiency to repair stress-induced mitochondrial DNA damage. It is likely that defect in mitochondrial DNA repair is due to variability in repair protein content across the mitochondrial population and is at least partially responsible for mitochondrial DNA instability. <br/

Rapunzel syndrome: A South African variety

Trichobezoars are intraluminal accretions of ingested hair. Rapunzel syndrome is a rare and extreme presentation, with the trichobezoar extending into the small intestine. It is most frequently reported in children and psychiatric patients. We report a South African series of 5 patients who presented with trichobezoars. Each patient was retrospectively reviewed and analysed with regard to background, demographics, clinical presentation, diagnosis, surgical management and complications. Five female patients with a median age of 19 (range 12 - 27) years presented with clinical symptoms, including early satiety, intermittent vomiting with gastric outlet obstruction, abdominal pain and weight loss. The diagnosis was made by endoscopy, abdominal computed tomography (CT) imaging, barium meal examination or plain abdominal radiography. Two patients presented with sealed/contained gastric perforations, and 1 patient with a small-bowel perforation. All 5 bezoars, 2 of which consisted entirely of artificial hair extensions, extended into the jejunum, the longest measuring 1.4 m. All were removed by laparotomy. While trichobezoars are a rare entity, they may present with significant complications, such as obstructions and perforations. In view of the infection risk and considerable size of many of these bezoars, an open removal is probably safer than any minimally invasive attempt

Rapunzel syndrome: A South African variety

Trichobezoars are intraluminal accretions of ingested hair. Rapunzel syndrome is a rare and extreme presentation, with the trichobezoar extending into the small intestine. It is most frequently reported in children and psychiatric patients. We report a South African series of 5 patients who presented with trichobezoars. Each patient was retrospectively reviewed and analysed with regard to background, demographics, clinical presentation, diagnosis, surgical management and complications. Five female patients with a median age of 19 (range 12 - 27) years presented with clinical symptoms, including early satiety, intermittent vomiting with gastric outlet obstruction, abdominal pain and weight loss. The diagnosis was made by endoscopy, abdominal computed tomography (CT) imaging, barium meal examination or plain abdominal radiography. Two patients presented with sealed/contained gastric perforations, and 1 patient with a small-bowel perforation. All 5 bezoars, 2 of which consisted entirely of artificial hair extensions, extended into the jejunum, the longest measuring 1.4 m. All were removed by laparotomy. While trichobezoars are a rare entity, they may present with significant complications, such as obstructions and perforations. In view of the infection risk and considerable size of many of these bezoars, an open removal is probably safer than any minimally invasive attempt

Questionnaire study to gain an insight into the manufacturing and fitting process of artificial eyes in children: an ocularist perspective

Purpose To gain an insight into the manufacturing and fitting of artificial eyes in children and potential improvements to the process. Method An online qualitative survey was distributed to 39 ocularists/prosthetists in Europe and Canada. Participants were recruited through purposive sampling, specifically maximum variation sampling from the researcher’s contacts and an online search. Results The findings highlighted the current impression technique as being the most difficult yet most important part of the current process for both the ocularist and child patient. Negatively affecting obtaining a good impression, the child patients distress can be reduced by their parents by providing encouragement, reassurance, practicing the insertion and removal of the artificial eye and being matter of fact. Whilst improvements to the current process provided mixed views, the incorporation of current technology was perceived as not being able to meet the requirements to produce aesthetically pleasing artificial eyes. Conclusion The current artificial eye process can be seen as an interaction with its success being dependent on the child patient’s acceptance and adjustment which is dependent on the factors associated to the process. Investigation into the needs of the patient and whether technology can improve the process are the next steps in its advancement