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1.
Spectrochim Acta A Mol Biomol Spectrosc ; 324: 124998, 2025 Jan 05.
Artigo em Inglês | MEDLINE | ID: mdl-39178690

RESUMO

Soil potassium is a crucial nutrient element necessary for crop growth, and its efficient measurement has become essential for developing rational fertilization plans and optimizing crop growth benefits. At present, data mining technology based on near-infrared (NIR) spectroscopy analysis has proven to be a powerful tool for real-time monitoring of soil potassium content. However, as technology and instruments improve, the curse of the dimensionality problem also increases accordingly. Therefore, it is urgent to develop efficient variable selection methods suitable for NIR spectroscopy analysis techniques. In this study, we proposed a three-step progressive hybrid variable selection strategy, which fully leveraged the respective strengths of several high-performance variable selection methods. By sequentially equipping synergy interval partial least squares (SiPLS), the random forest variable importance measurement (RF(VIM)), and the improved mean impact value algorithm (IMIV) into a fusion framework, a soil important potassium variable selection method was proposed, termed as SiPLS-RF(VIM)-IMIV. Finally, the optimized variables were fitted into a partial least squares (PLS) model. Experimental results demonstrated that the PLS model embedded with the hybrid strategy effectively improved the prediction performance while reducing the model complexity. The RMSET and RT on the test set were 0.01181% and 0.88246, respectively, better than the RMSET and RT of the full spectrum PLS, SiPLS, and SiPLS-RF(VIM) methods. This study demonstrated that the hybrid strategy established based on the combination of NIR spectroscopy data and the SiPLS-RF(VIM)-IMIV method could quantitatively analyze soil potassium content levels and potentially solve other issues of data-driven soil dynamic monitoring.

2.
Front Neurosci ; 18: 1448051, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39429702

RESUMO

Introduction: Sensorimotor synchronization (SMS) is the human ability to align body movement rhythms with external rhythmic stimuli. While the effects of rhythmic stimuli containing only temporal information on SMS have been extensively studied, less is known about how spatial information affects SMS performance. This study investigates the neural mechanisms underlying SMS with rhythmic stimuli that include both temporal and spatial information, providing insights into the influence of these factors across different sensory modalities. Methods: This study compared the effects temporal information and spatial information on SMS performance across different stimuli conditions. We simultaneously recorded the electroencephalogram (EEG), the electromyogram (EMG), and behavioral data as subjects performed synchronized tapping to rhythmic stimuli. The study analyzed SMS performance under conditions including auditory, visual, and auditory-visual motion stimuli (containing both temporal and spatial information), as well as auditory, visual, and auditory-visual non-motion stimuli (containing only temporal information). Specifically, the research examined behavioral data (i.e., mean asynchrony, absolute asynchrony, and variability), neural oscillations, cortico-muscular coherence (CMC), and brain connectivity. Results: The results demonstrated that SMS performance was superior with rhythmic stimuli containing both temporal and spatial information compared to stimuli with only temporal information. Moreover, sensory-motor neural entrainment was stronger during SMS with rhythmic stimuli containing spatial information within the same sensory modality. SMS with both types of rhythmic stimuli was found to be dynamically modulated by neural oscillations and cortical-muscular coupling in the beta band (13-30 Hz). Discussion: These findings provide deeper insights into the combined effects of temporal and spatial information, as well as sensory modality, on SMS performance. The study highlights the dynamic modulation of SMS by neural oscillations and CMC, particularly in the beta band, offering valuable contributions to understanding the neural basis of sensorimotor synchronization.

4.
Sci Total Environ ; 954: 176731, 2024 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-39368508

RESUMO

The configuration of water depth (WD) and flow velocity (FV) in floating constructed wetlands (FCWs) reflects the complex interactions between hydraulic conditions and wastewater treatment performance. Properly configuring hydraulic conditions can optimize performance. This study explored the removal and degradation of organic matter and nitrogen (N) in FCWs with three different WDs (50 cm (SD), 70 cm (MD), and 95 cm (DD)) under four FV conditions (0, 0.3, 1.0, and 1.5 m/d). It also analyzed the regulatory effects of hydraulic conditions on microbial community structure to provide new insights for configuring hydraulic conditions in FCWs. The results indicate that variations in WD and FV do not significantly affect COD removal (p > 0.05), with removal efficiency (RE) consistently reaching 90 % across all conditions. However, hydraulic conditions do influence the degradation rate (k) of COD, with increased FV enhancing the k in MD and DD. In contrast, WD significantly impacts the removal of NH4+-N (p < 0.05), with RE in SD exceeding 80 % across all four FVs. The primary reason is that increased WD reduced the abundance of nitrifying bacteria (Nitrosomonas and Nitrospira) and functional genes (hao and pmoABC-amoABC). Meanwhile, increased WD and FV significantly enriched the denitrifying bacteria genera (such as Massilia, Bacillus, Ensifer, and Rhodobacter) and certain functional genes (nap and nir), favoring the denitrification process and enhancing the dissimilatory nitrate reduction to ammonium (DNRA) process. Furthermore, microbial community diversity, richness, and the number of operational taxonomic units (OTUs) were highest in SD, but decreased with increased WD. This is mainly related to changes in oxygen (O2) transmission and nutrient concentration. These findings help us understand the mechanisms by which hydraulic regulation affects the removal of organic matter and N in FCWs. They also propose potential solutions from a hydraulics perspective to enhance N removal.

5.
Plant J ; 2024 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-39441672

RESUMO

Cotton fiber is the most valuable naturally available material for the textile industry and the fiber length and strength are key determinants of its quality. Dynamic changes in the pectin, xyloglucan, xylan, and cellulose polysaccharide epitope content during fiber growth contribute to complex remodeling of fiber cell wall (CW) and quality. Detailed knowledge about polysaccharide compositional and structural alteration in the fiber during fiber elongation and strengthening is important to understand the molecular dynamics of fiber development and improve its quality. Here, large-scale glycome profiling coupled with fiber phenotype and transcriptome profiling was conducted on fiber collected daily covering the most critical window of fiber development. The profiling studies with high temporal resolution allowed us to identify specific polysaccharide epitopes associated with distinct fiber phenotypes that might contribute to fiber quality. This study revealed the critical role of highly branched RG-I pectin epitopes such as ß-1,4-linked-galactans, ß-1,6-linked-galactans, and arabinogalactans, in addition to earlier reported homogalacturonans and xyloglucans in the formation of cotton fiber middle lamella and contributing to fiber plasticity and elongation. We also propose the essential role of heteroxylans (Xyl-MeGlcA and Xyl-3Ar), as a guiding factor for secondary CW cellulose microfibril arrangement, thus contributing to fiber strength. Correlation analysis of profiles of polysaccharide epitopes from glycome data and expression profiles of glycosyltransferase-encoding genes from transcriptome data identified several key putative glycosyltransferases that are potentially involved in synthesizing the critical polysaccharide epitopes. The findings of this study provide a foundation to identify molecular factors that dictate important fiber traits.

6.
SLAS Technol ; 29(6): 100198, 2024 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-39396733

RESUMO

Traditional imaging methods have limitations in the diagnosis of peripheral lung lesions. The aim of this study is to evaluate the diagnostic value of the distance measurement method based on ultrasound image-based inverted electrostrain (rEBUS) combined with thoracoscopic lung biopsy (TBLB) for peripheral lung lesions. A group of patients with peripheral lung lesions were recruited for the study, and rEBUS examination was performed simultaneously during TBLB. Using rEBUS ultrasound images combined with electrostrain information, evaluate the morphological characteristics of peripheral lung lesions and the elastic properties of internal tissues. By comparing with pathological examination results, both rEBUS-D-TBLB and rEBUS-GS-TBLB have a higher positive diagnostic rate for PPL under bronchoscopy. However, rEBUS-D-TBLB is more effective in diagnosing benign PPL with ≥ 3 cm PPL than rEBUS-GS-TBLB. The rEBUS-TBLB combined ranging method has shown high accuracy and sensitivity in diagnosing peripheral lung lesions. Ultrasound images provide clear morphological features of the tumor, while the electrical strain information of rEBUS provides elastic information of the internal tissue of the tumor, further improving the accuracy of diagnosis.

8.
Huan Jing Ke Xue ; 45(10): 6028-6037, 2024 Oct 08.
Artigo em Chinês | MEDLINE | ID: mdl-39455146

RESUMO

We studied the changes in various physical fractions within aggregates in the arid plateau of southern Shanxi Province, which has great significance for synergistically improving soil fertility and crop productivity in this region. Bulk soil samples were collected from 0-20 cm layers during a 7-year long-term experiment in Hongtong County, Shanxi Province. Wheat grain yields, SOC concentrations, proportions, and OC contents within soil aggregates were analyzed. OC contents included: unprotected coarse particulate organic carbon within macroaggregate (M-cPOC) and fine particulate organic carbon within macroaggregate (M-fPOC), physically protected intra-aggregate particulate organic carbon within macroaggregate (M-iPOC), chemically/biochemically protected mineral organic carbon within macroaggregate (M-MOC), unprotected fine particulate organic carbon within microaggregate (m-fPOC), physically protected intra-aggregate particulate organic carbon within microaggregate (m-iPOC), and chemically/biochemically protected mineral organic carbon within microaggregate (m-MOC). The treatments were ① farmer fertilization (FP), ② nitrogen reduction monitoring and control fertilization (MF), ③ nitrogen reduction monitoring and control fertilization plus ridge film and furrow sowing (RF), and ④ nitrogen reduction monitoring and control fertilization plus flat film hole sowing (RF). The results showed that compared with that in the FP treatment, MF reduced SOC concentration while maintaining wheat grain yield, RF and FH synergistically improved soil fertility and crop yield, especially for the FH with SOC concentration, and wheat grain yield increased by 8.44% and 48.86%, respectively. MF significantly reduced the content of M-cPOC, RF significantly increased the content of M-iPOC, and FH significantly increased the contents of M-fPOC, M-iPOC, M-MOC, and m-iPOC by 64.00%, 98.39%, 6.16%, and 17.48%, respectively. In addition, combined with redundancy analysis, we found that the M-iPOC fraction played a major role in increasing SOC concentration and wheat grain yield, with a contribution rate of 61.5%. Therefore, the contribution of macroaggregates to soil fertility and crop productivity was higher than that of microaggregates in the arid plateau area of southern Shanxi, and flat film hole sowing could increase the content of M-iPOC, thereby synergistically increasing SOC sequestration and wheat grain yield, which could promote this cultivation technology in the region and even in the country's arid agricultural areas.

9.
J Ethnopharmacol ; 337(Pt 3): 118942, 2024 Oct 18.
Artigo em Inglês | MEDLINE | ID: mdl-39426576

RESUMO

ETHNOPHARMACOLOGICAL RELEVANCE: The use of lavender as sleep aid or hypnotic agent can be traced back as early as ancient Romans and Greeks. Yet, objective experimental data on whether and how lavender enhances sleep duration or/and sleep quality remain lacking. AIM OF THE STUDY: We aimed to characterize the sleep-wake regulating effects of lavender in the mouse and to demonstrate the brain targets and neural circuits involved. MATERIALS AND METHODS: A self-made precise odor delivery system combined with chronic polysomnographic recordings was employed to assess the sleep-wake effects of inhalation with lavender essential oil (LEO, extracted from lavender) and its different constituents during the light and dark phases in free-moving C57BL/6J mice. Neuroviral labeling, in situ hybridization and pharmacogenetics were combined to identify the neural circuits and targets involved. Finally, an insomniac model of DL-4-Chlorophenylalanine (PCPA)-treated mice was established to examine the sleep-inducing potential of LEO. RESULTS: We found that inhalation of LEO with a concentration at 25.0% during the light (inactive) phase significantly shortened the latency to non-rapid eye movement (NREM) sleep, increased the total amount of NREM sleep at the expense of wakefulness (W), and enhanced cortical EEG slow wave activities, notably delta power spectra density. We further identified linalool, d-limonene, 1,8-cineole, linalyl acetate and terpinene-4-ol as the major effective sleep-promoting monomer components. Importantly, we found that LEO no longer produced any of the above sleep-promoting effect following either nasal injection of zinc sulfate which interrupts the olfactory pathway, or pharmacogenetics silencing of central amygdala GABAergic neurons. Finally, LEO reestablished NREM sleep with short latency in PCPA-treated insomniac mice, effects comparable with those induced by a potent sedative diazepam. CONCLUSIONS: We have characterized the quantitative and qualitative sleep-promoting effects of LEO and its effective components via the olfactory pathway and central amygdala GABA neuronal targets. The hypnotic property of LEO is reinforced by its ability to restore sleep in insomnia. Our study thus establishes a neurobiological basis for aromatherapy of sleep disorders using lavender.

11.
Sci Rep ; 14(1): 25918, 2024 10 29.
Artigo em Inglês | MEDLINE | ID: mdl-39472644

RESUMO

The long-term use of aspirin for preventing cardiovascular disease has been recommended for decades. However, there is currently uncertainty regarding the long-term effects of aspirin use on the risk of all-cause, cardiovascular, and cancer mortality in cancer patients. The aim of this work was to analyze the connection between the prophylactic use of low-dose aspirin and the risk of all-cause death, cardiovascular death, and carcinoma death in carcinoma patients in the United States. A cohort study was conducted using National Health and Nutrition Examination Survey (NHANES) data (2011-2012, 2013-2014, 2015-2016, and 2017-2018) and associated mortality data. The 95% confidence intervals (CIs) and hazard ratios (HRs) between non-aspirin use and prophylactic low-dose aspirin use and the risk of death were measured via Cox proportional hazard regression models. A total of 1819 participants were included in the present research, of whom 945 were nonaspirin users and 874 were prophylactic aspirin users. Compared with non-aspirin users, prophylactic low-dose aspirin users had a decreased risk of all-cause death (HR = 0.647, 95% CI = 0.489-0.857). There was no statistically significant difference in the risk of cardiovascular death (HR = 0.623, 95% CI = 0.362-1.074) or cancer death (HR = 0.709, 95% CI = 0.410-1.226). Prophylactic use of low-dose aspirin may lower all-cause mortality in individuals with cancer but does not have a substantial effect on cardiovascular risk or cancer-specific mortality in this patient population.


Assuntos
Aspirina , Doenças Cardiovasculares , Neoplasias , Humanos , Aspirina/administração & dosagem , Aspirina/uso terapêutico , Masculino , Feminino , Neoplasias/mortalidade , Pessoa de Meia-Idade , Doenças Cardiovasculares/mortalidade , Doenças Cardiovasculares/prevenção & controle , Idoso , Adulto , Causas de Morte , Modelos de Riscos Proporcionais , Estados Unidos/epidemiologia , Inquéritos Nutricionais , Estudos de Coortes
12.
Chin Med J Pulm Crit Care Med ; 2(3): 182-187, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-39403415

RESUMO

Objectives: Respiratory syncytial virus (RSV) is a leading cause of lower respiratory tract infection (LRTI). However, few comprehensive descriptions of the disease burden, medical resource utilization (MRU), and costs of RSV are available for China. This study aimed to provide the basis for the development of RSV prevention strategies by analyzing the burden of RSV among inpatients with lower respiratory tract infection under 5 years of age. Methods: We conducted a retrospective hospital-based study from June 2009 to May 2019 in Chongqing. Inpatients with LRTI were tested for eight viruses. We analyzed the RSV disease burden, MRU, and direct hospitalization costs by using non-parametric Mann‒Whitney U test, Chi-squared test or Fisher's exact test and logistic regression. Results: A total of 6991 children under 5 years of age with LRTI were included in this study. The overall RSV-positive rate was 34.5% (2410/6991). Prior to admission, 81.9% (1973/2410) of these RSV-positive cases were otherwise healthy. Compared with children aged 24-59 months, the odds ratio (OR) and 95% confidence interval (CI) for RSV infection were 2.509 (2.139-2.945), 1.882 (1.549-2.222), and 1.479 (1.240-1.765) for those aged 1-5 months, 6-11 months, and 12-23 months, respectively. The proportions of patients treated with invasive ventilation and continuous positive airway pressure (CPAP) were significantly higher among RSV-positive cases (1.1% [27/2410] and 3.9% [93/2410]) than RSV-negative cases (0.9% [43/4581] and 2.7% [124/4581]) (P = 0.023). Compared with RSV-negative cases, RSV-positive cases had significantly longer hospital length of stay (6 [5, 8] days vs. 6 [5, 8] days, P < 0.001) and higher hospitalization costs (963.0 [757.9, 1298.5] USD vs. 935.6 [719.7, 1296.3] USD, P = 0.022). Conclusions: Most RSV infections occurred during early childhood and among individuals in the otherwise healthy group. Younger age was associated with a higher RSV-positive rate. Effective prevention measures are needed in the earliest stages to reduce the RSV burden.

13.
Sci Total Environ ; : 177260, 2024 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-39481552

RESUMO

Soil microbial fuel cells (MFCs) can control the horizontal transfer of antibiotic resistance genes (ARGs) by reducing the abundance of mobile genetic elements. However, little is known about the effect of soil MFCs on the horizontal transfer pathway of ARGs transduced by viruses. In this study, the average abundance of ARGs in soil MFCs was 11 % lower than that in the open-circuit control. Lower virus abundance in soil MFCs suggested less detriment of microbial communities. The structure of the viral community was respectively shifted by the introduction of electrodes and the stimulation of biocurrent, especially for the top three viral genera Oslovirus, Tequatrovirus and Incheonvrus in soil. The ARGs aac(6)-I, cat chloramphenicol acetyltransferase, qnrA and vanY were found as the highest health risk (Rank I), and their total abundance showed the lowest in MFCs, with a decrease of 91-99 % compared to the controls. As the main carrier of ARGs, the abundance of Caudoviricetes showed a significant positive correlation with ARGs. Viral integrase was identified respectively coexisting with arnA and vanR (Rank III) in the same contig, which might aggravate their horizontal transfer. Proteobacteria was the main host of viruses carrying ARGs, which exhibited the lowest abundance in the soil MFC. The genus Pseudomonas was the host of viruses carrying ARGs, whose amount reduced by soil MFCs. This study provides an insight into the bioelectrochemical control of ARGs horizontal transfer.

14.
Respir Res ; 25(1): 391, 2024 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-39472895

RESUMO

BACKGROUND: Rapid on-site evaluation (ROSE) plays an important role during transbronchial sampling, providing an intraoperative cytopathologic evaluation. However, the shortage of cytopathologists limits its wide application. This study aims to develop a deep learning model to automatically analyze ROSE cytological images. METHODS: The hierarchical multi-label lung cancer subtyping (HMLCS) model that combines whole slide images of ROSE slides and serum biological markers was proposed to discriminate between benign and malignant lesions and recognize different subtypes of lung cancer. A dataset of 811 ROSE slides and paired serum biological markers was retrospectively collected between July 2019 and November 2020, and randomly divided to train, validate, and test the HMLCS model. The area under the curve (AUC) and accuracy were calculated to assess the performance of the model, and Cohen's kappa (κ) was calculated to measure the agreement between the model and the annotation. The HMLCS model was also compared with professional staff. RESULTS: The HMLCS model achieved AUC values of 0.9540 (95% confidence interval [CI]: 0.9257-0.9823) in malignant/benign classification, 0.9126 (95% CI: 0.8756-0.9365) in malignancy subtyping (non-small cell lung cancer [NSCLC], small cell lung cancer [SCLC], or other malignancies), and 0.9297 (95% CI: 0.9026-0.9603) in NSCLC subtyping (lung adenocarcinoma [LUAD], lung squamous cell carcinoma [LUSC], or NSCLC not otherwise specified [NSCLC-NOS]), respectively. In total, the model achieved an AUC of 0.8721 (95% CI: 0.7714-0.9258) and an accuracy of 0.7184 in the six-class classification task (benign, LUAD, LUSC, NSCLC-NOS, SCLC, or other malignancies). In addition, the model demonstrated a κ value of 0.6183 with the annotation, which was comparable to cytopathologists and superior to trained bronchoscopists and technicians. CONCLUSION: The HMLCS model showed promising performance in the multiclassification of lung lesions or intrathoracic lymphadenopathy, with potential application to provide real-time feedback regarding preliminary diagnoses of specimens during transbronchial sampling procedures. CLINICAL TRIAL NUMBER: Not applicable.


Assuntos
Biomarcadores Tumorais , Neoplasias Pulmonares , Humanos , Neoplasias Pulmonares/sangue , Neoplasias Pulmonares/diagnóstico , Neoplasias Pulmonares/classificação , Neoplasias Pulmonares/patologia , Estudos Retrospectivos , Biomarcadores Tumorais/sangue , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Aprendizado Profundo
16.
Int J Biol Macromol ; 280(Pt 3): 135788, 2024 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-39307487

RESUMO

Dioscorea composita (D. composita) is a perennial herb with abundant steroidal saponins that have gained worldwide attention for their remarkable efficacy in cardiovascular diseases. However, few studies have been worked on the regulatory network of steroidal saponins biosynthesis under phytohormone induced. In this study, we combined the transcriptome and metabolome analysis to reveal the variation of diosgenin and steroidal saponins in transcriptional and metabolism levels under methyl-jasmonate (MeJA) treatment. Although the application of MeJA indeed significantly increased the accumulation of diosgenin of D. composita, different types of steroidal saponins exhibited different accumulation patterns. Consistently, the expression levels of UDP-glycosyltransferases and Cytochrome P450 monooxygenases genes that highly related to the accumulation of steroidal saponins were either up- or down-regulated. Correlation analyses of transcription factors (TFs)-steroidal saponins and structural genes-TFs were further to identified the TFs potentially involved in the regulation of steroidal saponins biosynthesis. Silencing of DcWRKY11 in Dioscorea composita decreases the accumulation of steroidal saponins by regulating the expression steroidal saponins synthesis genes, suggesting that DcWRKY11 is a positive regulator in the regulation of steroidal saponins biosynthesis. Our findings take a deeper understanding of the regulatory network of MeJA-mediated steroidal saponins biosynthesis in D. composita.

17.
Front Oncol ; 14: 1409627, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39328205

RESUMO

Colorectal cancer (CRC) ranks as the second leading cause of cancer-related deaths globally, trailing only behind lung cancer, and stands as the third most prevalent malignant tumor, following lung and breast cancers. The primary cause of mortality in colorectal cancer (CRC) stems from distant metastasis. Among the various routes of metastasis in CRC, lymph node metastasis predominates, serving as a pivotal factor in both prognostication and treatment decisions for patients. This intricate cascade of events involves multifaceted molecular mechanisms, highlighting the complexity underlying lymph node metastasis in CRC. The cytokines or proteins involved in lymph node metastasis may represent the most promising lymph node metastasis markers for clinical use. In this review, we aim to consolidate the current understanding of the mechanisms and pathophysiology underlying lymph node metastasis in colorectal cancer (CRC), drawing upon insights from the most recent literatures. We also provide an overview of the latest advancements in comprehending the molecular underpinnings of lymph node metastasis in CRC, along with the potential of innovative targeted therapies. These advancements hold promise for enhancing the prognosis of CRC patients by addressing the challenges posed by lymph node metastasis.

19.
Cell Death Discov ; 10(1): 410, 2024 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-39333482

RESUMO

Diseases of the female reproductive system, especially malignant tumors, pose a serious threat to women's health worldwide. One of the key factors limiting research progress in this area is the lack of representative models. Organoid technology, especially tumor organoids, has been increasingly applied in the study of female reproductive system tumors due to their high heterogeneity, close resemblance to the physiological state, easy acquisition and cultivation advantages. They play a significant role in understanding the origin and causes of tumors, drug screening, and personalized treatment and more. This article reviews the organoid models for the female reproductive system, focusing on the cancer research advancements. It discusses the methods for constructing tumor organoids of the female reproductive tract and summarizes the limitations of current research. The aim is to offer a reference for future development and application of these organoid models, contributing to the advancement of anti-tumor drugs and treatment strategies for female reproductive tract cancer patients.

20.
Artigo em Inglês | MEDLINE | ID: mdl-39342436

RESUMO

FARS2-associated hereditary spastic paraplegia, later onset spastic paraplegia type 77, is a rarely neurodegenerative disease. Here, we reported two affected siblings in an autosomal recessive spastic paraplegia family with a pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2. Both patients gradually developed altered gaits and weakness in both lower limbs. In our literature review, spastic paraplegia type 77 shows high heterogeneity in clinical manifestations. Our study broadens the scope of pathogenic mechanisms of SPG77 resulting from compound heterozygous mutations in FARS2 and provides strong evidence that deletion in FARS2 due to recombination event mediated by Alu element.

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