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1.
Artigo em Inglês | MEDLINE | ID: mdl-38843411

RESUMO

Purpose: This research was conducted to construct an ankle pump motion counter and system with orthopedic characteristics and analyze the impacts of fast-track surgery on postoperative deep venous thrombosis (DVT) among patients with lower limb fractures. Methods: First, an ankle pump motion counter system was set up to detect postoperative rehabilitation training (Hardware design: This involves components such as an accelerometer sensor, microcontroller, circuit design, power supply, and wireless module. The accelerometer sensor is used to monitor key points and capture motion signals, while the microcontroller handles frequency calculations and generates alerts for abnormal ankle pump motion parameters. Circuit design ensures the proper functioning of the device, and the power supply meets the requirements of the ankle pump motion counter. The wireless module is used for data transmission and communication with other devices. Software design: This includes software design for both the patient and doctor sides. The software design involves defining software requirements and module divisions, designing data acquisition and filtering programs, developing programs for data parameter reading and writing, implementing communication protocols, designing data communication programs, and creating rehabilitation training plans and training record programs). Then, a retrospective analysis was carried out for the subjects (100 patients with lower limb fractures treated in Zhejiang Hospital between June 2021 and June 2022. They were randomly enrolled into control and experimental groups (50 cases each). The ankle pump motion counter was utilized for the patients in the experimental group. Before surgery, gender, age, the incidence of venous thromboembolism (VTE), and the muscle strength of both lower limbs of the two groups were recorded. After surgery, numerical rating scale (NRS) pain scores, D-dimer (D-D), and average length of hospitalization 3 d after surgery and venous thrombosis of both lower limbs 5 d after surgery of two groups were compared. Results: D-D of the control group was significantly higher than that of the experimental group 3 days after surgery (P < .05), while the NRS pain score was relatively lower (P < .05). The average hospitalization length for the experimental group was 10.2 days versus 16.2 days for the control group. The incidence of VTE 5 days after the surgery was 2% for the experimental group compared to 6% for the control group (P < .05). Conclusion: The ankle pump motion counter system has the potential to improve VTE prevention, enhance patient compliance, streamline healthcare delivery, standardize care, and enable data-driven decision-making at a wider clinical level. By accurately monitoring ankle pump exercises and providing real-time feedback, this system can contribute to better patient outcomes, save time for healthcare providers, and facilitate evidence-based practices in the prevention of postoperative DVT among patients with lower limb fractures.

2.
Mol Vis ; 27: 706-717, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-35002215

RESUMO

Purpose: High myopia (HM) is one of the leading causes of irreversible vision loss in the world. Many myopia loci have been uncovered with linkage analysis, genome-wide association studies, and sequencing analysis. Numerous pathogenic genes within these loci have been detected in a portion of HM cases. In the present study, we aimed to investigate the genetic basis of 103 patients with nonsyndromic HM, focusing on the reported causal genes. Methods: A total of 103 affected individuals with nonsyndromic HM were recruited, including 101 patients with unrelated sporadic HM and a mother and son pair. All participants underwent comprehensive ophthalmic examinations, and genomic DNA samples were extracted from the peripheral blood. Whole exome sequencing was performed on the mother and son pair as well as on the unaffected father. Sanger sequencing was used to identify mutations in the remaining 101 patients. Bioinformatics analysis was subsequently applied to verify the mutations. Results: An extremely rare mutation in AGRN (c.2627A>T, p.K876M) was identified in the mother and son pair but not in the unaffected father. Another two mutations in AGRN (c.4787C>T, p.P1596L/c.5056G>A, p.G1686S) were identified in two unrelated patients. A total of eight heterozygous variants potentially affecting the protein function were detected in eight of the remaining 99 patients, including c.1350delC, p.V451Cfs*76 and c.1023_1024insA, p.P342Tfs*41 in SLC39A5; c.244_246delAAG, p.K82del in SCO2; c.545A>G, p.Y182C in P4HA2; c.415C>T, p.P139S in BSG; c.3266A>G, p.Y1089C in ZNF644; and c.2252C>T, p.S751L and c.1708C>T, p.R570C in CPSF1. Multiple bioinformatics analyses were conducted, and a comparison to a group with geographically matched controls was performed, which supported the potential pathogenicity of these variants. Conclusions: We provide further evidence for the potential role of AGRN in HM inheritance and enlarged the current genetic spectrum of nonsyndromic HM by comprehensively screening the reported causal genes.


Assuntos
Predisposição Genética para Doença , Miopia , China , Análise Mutacional de DNA , Estudo de Associação Genômica Ampla , Humanos , Mutação , Miopia/genética , Linhagem
3.
J Ophthalmol ; 2022: 3052366, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35140986

RESUMO

AIM: To report the treatment of 7 cases of unsealed hole after macular hole surgery with air-fluid exchange. METHODS: Retrospective case series. We collected 7 eyes of 7 patients with unsealed hole an unsealed hole about 2 weeks after macular hole surgery (23G vitrectomy with internal limiting membrane peeling with sterilizing air tamponade) in our hospital from February 2018 to December 2018. All patients underwent "air-liquid exchange by free hand and one needle." The prone position was taken one week after operation. The macular holes before and after operation were examined by frequency-domain optical coherence tomography (SD-OCT). RESULTS: The size of the macular hole before vitrectomy was 481 ± 156 µm (range: 281-609 µm). Two weeks after vitrectomy (before air and liquid exchange), the size of the macular hole was 295 ± 92 µm (range: 210-421 µm). All macular holes were closed within 7-14 days after air-liquid exchange. There was no complaint of discomfort among these patients. CONCLUSION: From this preliminary study, air-liquid exchange by free hand and one needle seems to be safe and effective in the treatment for patients with unsealed and tiny macular hole after vitrectomy as the lack of long effective gas in China. However, the exact efficacy and safety need further large case studies.

4.
Invest Ophthalmol Vis Sci ; 60(12): 4052-4062, 2019 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-31560770

RESUMO

Purpose: High myopia (HM) is defined as a refractive error worse than -6.00 diopter (D). This study aims to update the phenotypic and genotypic landscape of nonsyndromic HM and to establish a biological link between the phenotypic traits and genetic deficiencies. Methods: A cross-sectional study involving 731 participants varying in refractive error, axial length (AL), age, myopic retinopathy, and visual impairment. The phenotypic traits were analyzed by four ophthalmologists while mutational screening was performed in eight autosomal causative genes. Finally, we assessed the clinical relevance of identified mutations under the guidance of the American College of Medical Genetics and Genomics. Results: The relationship between refractive error and AL varied in four different age groups ranging from 3- to 85-years old. In adult groups older than 21 years, 1-mm increase in AL conferred 10.84% higher risk of pathologic retinopathy (Category ≥2) as well as 7.35% higher risk of low vision (best-corrected visual acuities <0.3) with P values < 0.001. The prevalence rates of pathologic retinopathy and low vision both showed a nonlinear positive correlation with age. Forty-five patients were confirmed to harbor pathogenic mutations, including 20 novel mutations. These mutations enriched the mutational pool of nonsyndromic HM to 1.5 times its previous size and enabled a statistically significant analysis of the genotype-phenotype correlation. Finally, SLC39A5, CCDC111, BSG, and P4HA2 were more relevant to eye elongation, while ZNF644, SCO2, and LEPREL1 appeared more relevant to refracting media. Conclusions: Our findings shed light on how multiple HM-related phenotypes are associated with each other and their link with gene variants.


Assuntos
Povo Asiático/genética , Comprimento Axial do Olho/patologia , Miopia Degenerativa/genética , Doenças Retinianas/diagnóstico , Baixa Visão/diagnóstico , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/fisiologia , Criança , Pré-Escolar , China/epidemiologia , Estudos Transversais , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Miopia Degenerativa/diagnóstico , Fenótipo , Adulto Jovem
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