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BackgroundChina has seen a significantly increased prevalence of chronic obstructive pulmonary disease (COPD) recently. But primary care institutions, the main "battlefield" for containing COPD, have shown relatively weak capabilities for the diagnosis and treatment of disease. As there are relatively few large-scale investigations and studies on medicines and diagnostic devices for COPD in primary care, we conducted this study to further understand the weaknesses of current COPD containment in primary care, by which the gap in related research may be made up.ObjectiveTo understand the allocation and availability rate of essential medicines for COPD, and availability rate of spirometer as well as the implementation of pulmonary function tests in primary care.MethodsFrom February to March 2021, a multi-stage cluster sampling was adopted to select 8 176 community (township) health centers from 31 provinces of China to attend a survey. The rates of availability and allocation of each of the 16 essential medicines for COPD in the 2018 National Essential Medicines List were calculated to estimate the categories and number of these medicines in primary care institutions. The rate of availability of spirometer in these institutions was estimated. And the rate of implementation of pulmonary function tests in these institutions was estimated.ResultsAltogether, 7 458 (91.22%) institutions who gave effective responses to the survey were included for analysis, including 5 901 (79.12%) township health centers, and 1 557 (20.88%) community health centers. Among the 16 essential medicines for COPD, less than 8 were available in 6 538 (87.66%) institutions, at least 1 inhaled antiasthmatic medicines were available in 4 992 (66.00%) institutions, and long-acting inhaled antiasthmatic medicines were available in 814 (10.91%) institutions. The average availability rate of 16 essential medicines for COPD was 33.30%. The highest ranked three medicines in terms of availability rate were ambroxol〔85.28% (6 360/7 458) 〕, aminophylline〔81.17% (6 054/7 458) 〕 and compound licorice〔74.48% (5 555/7 458) 〕. And the relatively low-ranked three were fluticasone propionate 〔4.89% (365/7 458) 〕, tiotropium bromide〔6.25% (466/7 458) 〕, budesonide forterol〔8.61% (642/7 458) 〕. The average availability rate of 6 inhaled antiasthmatic medicines in community health centers was 28.31%, and that in township health centers was 4.81%. The average availability rate of 2 long-acting inhaled antiasthmatic medicines in community health centers was 16.18%, and that in township health centers was 5.12%. The average availability rate of spirometers in primary care institutions was 8.94% (667/7 458) . The average availability rate of spirometers in community health centers was higher than that of township health centers〔18.56% (289/1 557) vs 6.41% (378/5 901) , P

Background: Cenani‐Lenzsyndactyly syndrome (CLSS; OMIM 212780) is a rare autosomal recessive acral deformity, which is mainly manifested in the fusion of fingers or toes, disordered phalangeal structure, shortening or fusion of the radius and ulna, and renal hypoplasia. Case presentation: Our report described an individual with mild phenotypes from China. His parents were not consanguineous. The affected individual was non‐dysmorphic. Standard X‐ray showed that the both hands have only four metacarpal bones. The distal end of the first metacarpal bone on the right was relatively slender, and the distal phalanx was absent. Multiple phalanges and some soft tissues of both hands were fused. Exome sequencing revealed a novel biallelic c.282C⟩Avariant in low‐density lipoprotein receptor‐related protein 4 (LRP4; OMIM604270; NM_002334.4) causing p. (Asn94Lys) change in the encoded protein. This variant is predicted to be potentially pathogenic, affecting protein structure and function. Conclusion: We report a novel missense variant present in homozygosity in LRP4 to broaden the pathogenic spectrum of LRP4 in syndactyly, and exome sequencing technology is a powerful tool for genetic analysis in prenatal diagnosis and medical research, as a preferred method for the diagnosis of syndactyly and related phenotypes. [ABSTRACT FROM AUTHOR]

Early recognition of abnormal gait enables physicians to determine a prompt rehabilitation plan for patients for the most effective treatment and care. The Kinect depth sensor can easily collect skeleton data describing the position of joints in the human body. However, the default human skeleton model of Kinect includes an excessive number of many joints, which limits the accuracy of the gait recognition methods and increases the computational resources required. In this study, we propose an optimized human skeleton model for the Kinect system and streamline the joints using a center-of-mass calculation. We integrate several techniques to propose an end-to-end, spatial–temporal, joint attention graph convolutional network (STJA-GCN) architecture. We conducted experiments with a fivefold cross-validation on two common datasets of information on abnormal gaits to evaluate the performance of the proposed method. The results show that the STJA-GCN achieved 93.17 and 92.08% accuracy on the two datasets, and compared to the original spatial–temporal graph convolutional network (ST-GCN), the recognition accuracy increases by 9.22 and 20.65%, respectively. Overall, the results demonstrate that the STJA-GCN can accurately recognize abnormal gaits and, thus, can support low-cost rehabilitation assessments at community hospitals or in patients' homes. [ABSTRACT FROM AUTHOR]

Diamond microelectrodes are fabricated using microwave plasma CVD for the growth of electrically conducting single microcrystallite diamonds as well as diamond films on etched tungsten wires which are subsequently sealed in glass. The electroactive diamond is exposed by either mechanical polishing or by chemical etching of the glass. The resulting microelectrodes yield steady-state cyclic voltammograms at low scan rates.

The present study described the diagnosis of a fetus with sex chromosome mosaicism in three cell lines and two marker chromosomes. A 24-year-old woman underwent amniocentesis at 21 weeks and 4 days of gestation due to noninvasive prenatal testing identifying that the fetus had sex chromosome abnormalities. Amniotic cell culture revealed a karyotype of 45,X[13]/46,X,+mar1[6]/46,X,+mar2[9], and prenatal ultrasound was unremarkable. The woman underwent repeat amniocentesis at 23 weeks and 4 days of gestation for molecular detection. Single nucleotide polymorphism (SNP) microarray analysis on uncultured amniocytes revealed that the fetus had two Y chromosomes and 7.8-Mb deletions in Yq11.222q12. The deletion regions included DAZ, RBMY and PRY genes, which could cause spermatogenesis obstacle and sterility. Interphase fluorescence in situ hybridization (FISH) using centromeric probes DXZ1/DYZ3/D18Z1 was performed on uncultured amniocytes to verify the two marker chromosomes to be Y chromosome derivatives. According to these examinations, the mar1 was identified as a derivative of the Y chromosome with a deletion in Yq11.222q12, and the mar2 was identified as a dicentric derivative of the Y chromosome. The molecular karyotype was therefore 45,X,ish(DXZ1+, DYZ3-,D18Z1++)[5]/46,X,del(Y)(q11.222),ish(DXZ1+,DYZ3+,D18Z1++)[11]/46, X,idic(Y)(q11.222),ish(DXZ1+,DYZ3++,D18Z1++)[14]. The comprehensive use of cytogenetic, SNP array and FISH detections was advantageous for accurately identifying the karyotype, identifying the origin of the marker chromosome and preparing effective genetic counseling. [ABSTRACT FROM AUTHOR]