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Background: Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Here, we aim to present a Chinese pediatric patient with terminal 4q35.2 microdeletion and use this case to clarify the underlying genotype–phenotype correlation. Methods: A 17-year-old boy from Quanzhou, South China, was recruited as the main subject in this study. Karyotype and single-nucleotide polymorphism (SNP) based microarray analysis were carried out to detect chromosomal abnormalities and copy number variants in this family. Trio whole exome sequencing (Trio-WES) was performed to investigate the potential pathogenic variant in this family. Results: During observation, we identified abnormal clinical phenotypes including upper eyelid ptosis, motor developmental delay, abnormal posturing, abnormality of coordination, attention deficit hyperactivity disorder, and involuntary movements in the patient. SNP array analysis results confirmed a case of 2.0 Mb 4q35.2 microdeletion and parental SNP array verification results indicated that the terminal 4q35.2 microdeletion was inherited from his mother. No copy number variants were detected in his father. In addition, the trio-WES results demonstrated none of pathogenic or likely pathogenic variants in the patient. Conclusions: This study brings a novel analysis of a case of 2.0 Mb terminal 4q35.2 microdeletion affecting a Chinese individual. In addition, additional clinical symptoms such as upper eyelid ptosis and involuntary movements were first reported to affect a patient with terminal 4q35.2 microdeletion, which may broaden the phenotype spectrum of the condition. [ABSTRACT FROM AUTHOR]

Introduction: Physiotherapy plays a very important role in comprehensive care of patients with haemophilia. Due to limited resources and a lack of understanding among medical personnel, physiotherapy has not become a standard component of comprehensive management of haemophilia in China. Aim: To investigate the understanding and practice of physiotherapy in the comprehensive management of haemophilia by non‐physiotherapy department medical staff engaged in haemophilia work in China. Methods: A specifically designed questionnaire was used to investigate the medical staff who participated in the 10th World Federation of Hemophilia—Hemophilia Conference China held in Xi'an, China, from 14 October to 16 October 2016. Results: Among all respondents, 97.2% believed that haemophilia patients needed physiotherapy. However, only 17.5% of the respondents were found to have a very accurate understanding of the timing of physiotherapeutic interventions for haemophilia patients; 83.9% of the respondents worried that physiotherapy would increase the incidence of new haemorrhagic episodes in haemophilia patients, and 11.1% of the respondents never recommended physiotherapy for haemophilia patients. Factors that independently affected the respondents' knowledge of the timing of physiotherapy in haemophilia patients were their professional rank and participation in continuing education that included haemophilia physiotherapy. One factor that independently affected respondents' recommendation of physiotherapy to patients was participation in continuing education that included haemophilia physiotherapy. Conclusion: Haemophilia continuing education covering physiotherapy should be strengthened for new non‐physiotherapy medical staff in the haemophilia field. [ABSTRACT FROM AUTHOR]

Phellodendron chinense Schneid. was widely used as a medicinal herb for the treatment of diabetic osteoporosis in China. In this study, an arabinogalactan, named as PPCP-1, was isolated from the bark of Phellodendron chinense Schneid., and purified by DEAE-cellulose DE52 and Sephacryl S-200 HR column chromatography. The structure of PPCP-1 was characterized as a repeating unit consisting of →3)-β- d -Gal p -(1→, →3,6)-β- d -Gal p -(1→, →5)-α- l -Ara f -(1→, →4)-α- d -Glc p -(1→, →3)-α- d -Glc p -(1→, →4)-α- d -Man p -(1→ with branches of →5)-α- l -Ara f -(1→, →3,5)-α- l -Ara f -(1→ and terminal α- l -Ara f. Pharmacologically, the oral administration of PPCP-1 preserved osteoporosis associated with hyperglycemia by inhibiting α-glucosidase activity, improving glucose tolerance, decreasing the accumulation of advanced glycation end products (AGEs), as well as down-regulating the expression of receptor for AGEs in tibias of streptozotocin-induced diabetic rats. Collectively, the present study suggested that the arabinogalactan PPCP-1 from Phellodendron chinense Schneid. might potentially be used as functional foods for bone health and/or developed for drug discovery for alleviating diabetic osteoporosis. • An arabinogalactan PPCP-1 was isolated from Phellodendron chinense Schneid. • PPCP-1 was consisted of galactose, glucose, arabinose and mannose. • PPCP-1 exerted osteoprotective effects in rats associated with diabetes. • PPCP-1 reduced the levels of blood glucose and the expressions of AGEs and RAGE. • PPCP-1 was explored to be a candidate inhibitor acting on α-glycosidase. [ABSTRACT FROM AUTHOR]

Objectives: To explore the long-term joint outcomes of low-dose prophylaxis in Chinese children with severe haemophilia A and to analyse their related factors., Methods: We retrospectively analysed follow-up data from 21 severe haemophilia A children on regular low-dose prophylaxis for 6-10 years. We used International Prophylaxis Study Group magnetic resonance imaging score (IPSG MRI score), Hemophilia Joint Health Score (HJHS), number of target joints, and Hemophilia-Specific Quality of Life Index (Haemo-QoL) to evaluate joint outcomes. Factors associated with these outcomes were evaluated by statistical analysis., Results: (1) The children were 1.75 to 17 years age at prophylaxis initiation. Median prophylactic factor VIII dose was 22.9 IU/kg per week. (2) At the end of follow-up: (a) The total IPSG MRI scores were 2-24 with 90.5% children exhibiting moderate to severe joint involvement (score 7-24); (b) The HJHS ranged 2-27, with 0-10 for 46.7% children and >10 for 53.3% children. There was a positive correlation between the MRI score and HJHS (p < .05); (c) Compared to their on-demand treatment period before prophylaxis, target joints numbers decreased, and no child needed auxiliary devices to walk; (d) Joint outcomes were positively correlated with the age at initiation of low-dose prophylaxis (p < .05) and negatively correlated with the treatment dose., Conclusion: Long-term low-dose prophylaxis had positive effect on joint outcomes compared with on-demand treatment. However, a certain degree of joint damage remained in all children indicating the need for improving the current strategy of low-dose prophylaxis., (© 2021 John Wiley & Sons Ltd.)