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With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral neuropathies (IPNs) is challenging. To provide an overview of the genetic and clinical features of 39 families with complex IPNs from central south China and to optimize the molecular diagnosis approach to this group of heterogeneous diseases, a total of 39 index patients from unrelated families were enrolled, and detailed clinical data were collected. TTR Sanger sequencing, hereditary spastic paraplegia (HSP) gene panel, and dynamic mutation detection in spinocerebellar ataxia (SCAs) were performed according to the respective additional clinical features. Whole-exome sequencing (WES) was used in patients with negative or unclear results. Dynamic mutation detection in NOTCH2NLC and RCF1 was applied as a supplement to WES. As a result, an overall molecular diagnosis rate of 89.7% was achieved. All 21 patients with predominant autonomic dysfunction and multiple organ system involvement carried pathogenic variants in TTR, among which nine had c.349G > T (p.A97S) hotspot variants. Five out of 7 patients (71.4%) with muscle involvement harbored biallelic pathogenic variants in GNE. Five out of 6 patients (83.3%) with spasticity reached definite genetic causes in SACS, KIF5A, BSCL2, and KIAA0196, respectively. NOTCH2NLC GGC repeat expansions were identified in all three cases accompanied by chronic coughing and in one patient accompanied by cognitive impairment. The pathogenic variants, p.F284S and p.G111R in GNE, and p.K4326E in SACS, were first reported. In conclusion, transthyretin amyloidosis with polyneuropathy (ATTR-PN), GNE myopathy, and neuronal intranuclear inclusion disease (NIID) were the most common genotypes in this cohort of complex IPNs. NOTCH2NLC dynamic mutation testing should be added to the molecular diagnostic workflow. We expanded the genetic and related clinical spectrum of GNE myopathy and ARSACS by reporting novel variants. [ABSTRACT FROM AUTHOR]

The objective of this study was to determine the normal values of faciolingual thickness (FLT) of the papilla base, papilla height (PH), and gingival angle (GA) among Chinese adults and the association of FLT with the gingival phenotype. The periodontal phenotypes of 105 volunteers were confirmed by Kan et al's periodontal probe transmission method and classification. All volunteers received complete supragingival scaling and were recalled after 1 week for clinical examination and for recording various periodontal indices, including Plaque Index, Gingival Index, and periodontal depth. The FLT, PH, and GA of maxillary anterior teeth were measured, and their associations were analyzed. The mean FLT of papilla between the right canine (CA) and lateral incisor (LI) was 8.11 ± 0.64 mm; between the right LI and central incisor (CI) was 7.77 ± 0.64 mm; between the right CI and left CI was 8.49 ± 0.66 mm; between the left CI and LI was 7.62 ± 0.63 mm; and between the left LI and CA was 8.17 ± 0.63 mm. The thin-phenotype group showed a greater PH and FLT than the thick phenotype group. Inversely, the GA of the thick-phenotype group was greater than the corresponding values for the thin-phenotype group. In Chinese residents, the high and thick papilla are associated with the thin phenotype, while the low and thin papilla are associated with the thick phenotype. The GA is negatively correlated with PH. A weak correlation exists between the GA and FLT of papilla. [ABSTRACT FROM AUTHOR]

Background and purpose: The purpose was to provide an overview of genotype and phenotype distribution in a cohort of patients with Charcot–Marie–Tooth disease (CMT) and related disorders from central south China. Methods: In all, 435 patients were enrolled and detailed clinical data were collected. Multiplex ligation‐dependent probe amplification for PMP22 duplication/deletion and CMT multi‐gene panel sequencing were performed. Whole exome sequencing was further applied in the remaining patients who failed to achieve molecular diagnosis. Results: Among the 435 patients, 216 had CMT1, 14 had hereditary neuropathy with pressure palsies (HNPP), 178 had CMT2, 24 had distal hereditary motor neuropathy (dHMN) and three had hereditary sensory and autonomic neuropathy (HSAN). The overall molecular diagnosis rate was 70%: 75.7% in CMT1, 100% in HNPP, 64.6% in CMT2, 41.7% in dHMN and 33.3% in HSAN. The most common four genotypes accounted for 68.9% of molecular diagnosed patients. Relatively frequent causes were missense changes in PMP22 (4.6%) and SH3TC2 (2.3%) in CMT1; and GDAP1 (5.1%), IGHMBP2 (4.5%) and MORC2 (3.9%) in CMT2. Twenty of 160 detected pathogenic variants and the associated phenotypes have not been previously reported. Broad phenotype spectra were observed in six genes, amongst which the pathogenic variants in BAG3 and SPTLC1 were detected in two sporadic patients presenting with the CMT2 phenotype. Conclusions: Our results provided a unique genotypic and phenotypic landscape of patients with CMT and related disorders from central south China, including a relatively high proportion of CMT2 and lower occurrence of PMP22 duplication. The broad phenotype spectra in certain genes have advanced our understanding of CMT. [ABSTRACT FROM AUTHOR]

Background and Objectives: Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies. The objectives of this study were to report the clinical and genetic features of dHMN patients in a Chinese cohort. Aims and Methods: We performed clinical assessments and whole-exome sequencing in 24 dHMN families from Mainland China. We conducted a retrospective analysis of the data and investigated the frequency and clinical features of patients with a confirmed mutation. Results: Two novel heterozygous mutations in GARS , c.373G>C (p.E125Q) and c.1015G>A (p.G339R), were identified and corresponded to the typical dHMN-V phenotype. Together with families with WARS, SORD, SIGMAR1 , and HSPB1 mutations, 29.2% of families (7/24) acquired a definite genetic diagnosis. One novel heterozygous variant of uncertain significance, c.1834G>A (p.G612S) in LRSAM1 , was identified in a patient with mild dHMN phenotype. Conclusion: Our study expanded the mutation spectrum of GARS mutations and added evidence that GARS mutations are associated with both axonal Charcot-Marie-Tooth and dHMN phenotypes. Mutations in genes encoding aminoamide tRNA synthetase (ARS) might be a frequent cause of autosomal dominant-dHMN, and SORD mutation might account for a majority of autosomal recessive-dHMN cases. The relatively low genetic diagnosis yield indicated more causative dHMN genes need to be discovered. [ABSTRACT FROM AUTHOR]

Distal hereditary motor neuropathy (dHMN) is a clinically and genetically heterogeneous group of inherited neuropathies characterized by distal limb muscle wasting and weakness with no or minimal sensory abnormalities. To investigate the clinical and genetic features of dHMN caused by WARS mutations in mainland China, we performed Sanger sequencing of the coding and untranslated region (UTR) regions of WARS in 160 unresolved dHMN and Charcot‐Marie‐Tooth (CMT) index patients. We detected a novel heterozygous variant c.941A>G (p.Asp314Gly) of WARS in an index patient from an autosomal dominant dHMN family including five affected members over three generations. The variant completely co‐segregates with the dHMN phenotype in the family, and it was classified as likely pathogenic according to the American College of Medical Genetics and Genomics standards and guidelines. The clinical features included juvenile to adult onset (15‐23 years), distal wasting and weakness, minimal sensory disturbance and length‐dependent motor axonal degeneration with CMT examination score ranging from 6 to 10. Our report further confirms the role of WARS in dHMN and indicates that the variant c.941A>G (p.Asp314Gly) of WARS is related to a mild to moderate affected and later onset phenotype of dHMN. [ABSTRACT FROM AUTHOR]

Humans are responsible for the release of many non-native animals into the wild. However, these releases occur randomly and are difficult to monitor. Here, using two of the worst invasive herpetofauna as model taxa, we applied an iEcology approach and found a high magnitude of human-mediated releases in China, suggesting this approach can be used to monitor introductions and advise management bodies in a timely manner. Yan et al. use social media to monitor the release of invasive species in China. [ABSTRACT FROM AUTHOR]

• The potential conflict identification of production-living-ecological space uses POI to extract human-oriented factors. • Construct a multi-scale evaluation system integrating suitability and carrying capacity. • The result of incorporating human-oriented factors into the evaluation can more accurately reflect the actual situation. • The urban center area with large proportion of green space also has high ecological suitability. • Spatial conflicts mostly gather at the edge of urban expansion. The rapid urbanization in China has exacerbated the conflicts among production space, living space, and ecological space (PLES). Balancing economic development with ecological protection on limited land resources presents a pivotal challenge in the urbanization process. Mountainous urban agglomerations, with their complex terrain and limited development space, intensify PLES conflicts. Exploring potential PLES conflicts in these areas is crucial for optimizing spatial layout, coordinating human-land relationships, and promoting high-quality regional development. It is also a significant and challenging area in current research. Using the Central Yunnan Urban Agglomeration (CYUA) as a case study, this study integrated grid and administrative scales, incorporating human-oriented factors. A comprehensive evaluation system for mountain urban agglomerations, including suitability evaluation and spatial carrying capacity assessment, had been established. The conflict recognition matrix was used to identify potential PLES conflicts within the urban agglomeration. The results indicated that the PLES in the CYUA predominantly exhibited moderate levels of suitability. Production space suitability was higher in the southeast and lower in the northwest, living space suitability displayed a distinct strip-like distribution. Ecological space suitability was concentrated in the northeast and northwest, with lower suitability observed in the south. Apart from lake areas, approximately 71.92% of land in the CYUA faced potential conflicts regarding land use, primarily general spatial conflicts accounting for 49.79% of the total area. Intense conflict zones covered the smallest area, representing only 0.04% of the study area. The occurrence of potential spatial conflicts in this region was heavily influenced by both natural environmental factors and human activities. Suitable land areas were notably concentrated in regions with high human activity levels, favorable natural environments, and single land use functions. Conflicts were particularly concentrated in transition zones between human production and living spaces and ecological areas. The findings of this study offer valuable insights for guiding urban planning and management strategies not only for the CYUA but also for other mountainous urban agglomerations facing similar challenges. [ABSTRACT FROM AUTHOR]

Climate change has profoundly affected the synchrony of tree growth at multiple scales, thereby altering the structure and function of forest ecosystems. The Asian boreal forests extend southward to the Greater Khingan Range in northeast China. Given the ecological importance and susceptibility to climate change, the impacts of warming on this marginal forest community have been extensively investigated. Nonetheless, how tree growth synchrony changes across this region remains less understood. Focusing on this knowledge gap, we compiled a contiguously-distributed tree-ring network, containing 18 sampling populations and 475 individual larch trees, to explore the changes in multiple-scale growth synchrony across this region. We found increasing growth synchrony at both the individual and population levels over the past decades. The increasing trend of the regional inter-population growth synchrony was well in line with the increasing temperature and PDSI. Furthermore, 11 of the 18 sampling populations showed significant increases in their intra-population growth synchrony. We further associated the sliding intra-population growth synchrony with local climates. Intra-population growth synchrony of 13 and 11 sampling populations were significantly positively correlated with local temperature, and negatively correlated with local PDSI, respectively, demonstrating the driving role of warming-induced drought on growth synchrony. The linear regression model quantifying this relationship suggested that an increase of 1 °C in annual mean temperature would drive the intra-population growth synchrony to increase by 0.047. As warming trends in the study area are projected to continue over this century, our study warns of the further consequences of the increasing growth synchrony may have on the functioning, resilience, and persistence of forests., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)