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1.
Acta Orthop Belg ; 89(2): 280-288, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-37924546

RESUMO

We aimed to summarize the effectiveness and changing trends of reconstruction for the anterior cruciate ligament (ACL) and posterior cruciate ligament (PCL) injuries using all-inside arthroscope technique. Between May 2013 and May 2019, 29 patients with ACL and PCL ligaments rupture were included. All the patients were male, with a mean age of 25.2±2.9 years. The mean follow-up period was 2.4±0.7 years (Range, 2-4 years). Reconstruction surgery of the ACL and PCL ligaments was performed by using autologous hamstring tendon with all-inside arthroscopy technique. The anterior and posterior drawer test, Lachman test, Pivot-shift test, stress test, IKDC score, Lysholm score, Tenger score were analyzed clinically. At the last follow-up, the symptoms were improved significantly, the anterior drawer test was normal and 1 degree in 96.6%, posterior drawer test in 89.7%, pivot shift test in 96.6%, Lachman test in 93.1%, and stress test in 93.3%, the stability was improved significant(P<0.05). The IKDC-2000 standard score was normal and near normal in 96.6%. The IKDC subjective score, Lysholm score, and Tenger scores results at the last follow-up were significantly improved when compared with those before operation ( P<0.05). The changing trends of function evaluation score in the first six months were most obviously better, especially in the third month. All-inside arthroscopy technique is an effective procedure for the ACL and PCL ligaments injuries, and the first six months (especially the third month) after the reconstruction is the key period for a successful recovery. However, there was still a significant improvement at the later stage of rehabilitation.


Assuntos
Lesões do Ligamento Cruzado Anterior , Ligamento Cruzado Posterior , Humanos , Masculino , Adulto Jovem , Adulto , Feminino , Ligamento Cruzado Posterior/cirurgia , Ligamento Cruzado Posterior/lesões , Artroscopia/métodos , Lesões do Ligamento Cruzado Anterior/cirurgia , Resultado do Tratamento , Articulação do Joelho/cirurgia
2.
BMC Surg ; 23(1): 319, 2023 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-37872521

RESUMO

Cannulated screw fixation is essential in treating femoral neck fractures, and the widely used freehand technique has several limitations. Therefore, we designed a new laser-positioning and navigation system and compared its efficacy with that of the traditional freehand technique in the cannulated screw fixation of femoral neck fractures. This randomized controlled single-blind trial recruited patients with femoral neck fracture, who were treated using either the newly designed laser-navigation device or the freehand technique. In in-vitro experiments, using the femoral neck model, the laser group was better than the freehand group in terms of operation time (P = 0.0153) and radiation exposure time (P < 0.001). In in-vivo experiments, involving 30 patients (15 in each group), the laser group was better than the freehand group in terms of operation time (P < 0.001), radiation exposure time (P < 0.001), blood loss (P < 0.001) and first success rate (P = 0.03). There was no difference in visual analog scale score, Harris score, and fracture-healing time between the two groups. In conclusion, the novel laser-guiding navigation system resulted in shorter operation time, less radiation exposure, and higher first success rate compared with the freehand technique. Further qualified investigations with a larger number of patients and longer follow-up are required in the future.


Assuntos
Fraturas do Colo Femoral , Colo do Fêmur , Humanos , Colo do Fêmur/cirurgia , Método Simples-Cego , Fixação Interna de Fraturas/métodos , Parafusos Ósseos , Fraturas do Colo Femoral/cirurgia , Resultado do Tratamento , Estudos Retrospectivos
3.
Int J Mol Sci ; 24(3)2023 Jan 21.
Artigo em Inglês | MEDLINE | ID: mdl-36768464

RESUMO

Maize seedlings contain high amounts of 2,4-dihydroxy-7-methoxy-1,4-benzoxazin-3-one (DIMBOA), and the effect of DIMBOA is directly associated with multiple insect-resistance against insect pests such as Asian corn borer and corn leaf aphids. Although numerous genetic loci for multiple insect-resistant traits have been identified, little is known about genetic controls regarding DIMBOA content. In this study, the best linear unbiased prediction (BLUP) values of DIMBOA content in two ecological environments across 310 maize inbred lines were calculated; and their phenotypic data and BLUP values were used for marker-trait association analysis. We identified nine SSRs that were significantly associated with DIMBOA content, which explained 4.30-20.04% of the phenotypic variation. Combined with 47 original genetic loci from previous studies, we detected 19 hot loci and approximately 11 hot loci (in Bin 1.04, Bin 2.00-2.01, Bin 2.03-2.04, Bin 4.00-4.03, Bin 5.03, Bin 5.05-5.07, Bin 8.01-8.03, Bin 8.04-8.05, Bin 8.06, Bin 9.01, and Bin 10.04 regions) supported pleiotropy for their association with two or more insect-resistant traits. Within the 19 hot loci, we identified 49 candidate genes, including 12 controlling DIMBOA biosynthesis, 6 involved in sugar metabolism/homeostasis, 2 regulating peroxidases activity, 21 associated with growth and development [(auxin-upregulated RNAs (SAUR) family member and v-myb avian myeloblastosis viral oncogene homolog (MYB)], and 7 involved in several key enzyme activities (lipoxygenase, cysteine protease, restriction endonuclease, and ubiquitin-conjugating enzyme). The synergy and antagonism interactions among these genes formed the complex defense mechanisms induced by multiple insect pests. Moreover, sufficient genetic variation was reported for DIMBOA performance and SSR markers in the 310 tested maize inbred lines, and 3 highly (DIMBOA content was 402.74-528.88 µg g-1 FW) and 15 moderate (DIMBOA content was 312.92-426.56 µg g-1 FW) insect-resistant genotypes were major enriched in the Reid group. These insect-resistant inbred lines can be used as parents in maize breeding programs to develop new varieties.


Assuntos
Melhoramento Vegetal , Zea mays , Animais , Zea mays/genética , Insetos/genética , Variação Genética , Estudos de Associação Genética
4.
BMC Surg ; 22(1): 363, 2022 Oct 21.
Artigo em Inglês | MEDLINE | ID: mdl-36271356

RESUMO

BACKGROUND: Intramedullary nail (IMN) is one of the key essential minimally invasive "weapons" in orthopaedic trauma, while the distal locking is still challenging for surgeons. Although there are various inventions and technologies to improve the locking procedure, there are still problems such as inaccurate positioning, excessive radiation exposure, low first success rate and long learning curve. Therefore, a new laser guiding navigation device was designed and compared with the traditional freehand (FH) technique in the distal locking of femoral IMN. METHODS: This randomized controlled single-blind trial recruited patients with femoral diaphyseal fracture. The self-designed laser navigation device (laser group) and freehand technique (FH group) were used in the distal locking of the IMNs. The patients enrolled were randomized into FH group and laser group, all operations were performed by two surgeons of the same level. The differences between the two groups were compared in terms of radiation exposure time, operative time, first success rate, blood loss, visual analogue score (VAS), Harris score and healing time. RESULTS: 32 patients ended the study period and 16 patients in each group. The results showed that the laser group was better than the FH group in terms of distal locking time (10(9/11) vs 19.5 (17.25/21) min, Z = 4.83, P < 0.001), distal locking radiation exposure time (46.5 (41.25/51.75) vs 105 (88.25/140) s, Z = 4.807, P < 0.001), first success rate (30/32 vs 20/32, χ2 = 9.143, P = 0.002) and blood loss (60 (50-100) vs 150 (105-192.5) mL, Z = 3.610, P = 0.0003). There was no difference in Harris score, VAS score, or fracture healing time between the two groups. CONCLUSION: Compared with the FH technique, the novel laser guiding navigation device for distal locking of femoral IMN has the advantages of shorter operative time, less radiation exposure and higher first success rate. Trial registration Chinese Clinical Trial Registry, ChiCTR2200060236. Registered 23 May 2022, https://www.chictr.org.cn/showprojen.aspx?proj=169130.


Assuntos
Pinos Ortopédicos , Fixação Intramedular de Fraturas , Humanos , Método Simples-Cego , Fluoroscopia/métodos , Fixação Intramedular de Fraturas/métodos , Lasers
5.
Front Surg ; 9: 949727, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35959129

RESUMO

Objective: Both bone forearm fractures are common in children and rare in adults. The main surgical treatment is open reduction and internal fixation (ORIF) with plate, while the hybrid fixation of elastic-stable intramedullary nailing (ESIN) and the plate has been rarely reported before. Case report: We report a case of a 29-year-old male patient with both bone forearm fractures. Temporarily closed reduction and plaster external fixation were performed in the emergency room, and the patient was admitted to the orthopedic trauma ward for surgery. The patient underwent open reduction and plate fixation of the ulna and closed reduction and ESIN fixation of the radius. The fractures healing was satisfactory and the internal fixation was removed 12 months postoperatively. Conclusion: The hybrid fixation of ESIN and plate is an effective option for both bone forearm fractures in adults.

6.
Front Surg ; 9: 912295, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35784917

RESUMO

[This corrects the article DOI: 10.3389/fsurg.2022.855409.].

7.
World J Clin Cases ; 10(11): 3518-3526, 2022 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-35611188

RESUMO

BACKGROUND: Multiple myeloma (MM) bone disease is indicative of MM, and reduces patient life quality. In addition to oncological, antineoplastic systemic therapy, surgical therapy in patients with MM is an essential treatment within the framework of supportive therapy measures and involves orthopedic tumor surgery. Nevertheless, there are few reports on intramedullary (IM) nailing in the treatment of MM-induced proximal humeral fracture to prevent fixation loss. We here describe a case of pathological fracture of the proximal humerus caused by MM successfully treated with IM nailing without removal of tumors and a review of the current literature. CASE SUMMARY: A 64-year-old male patient complaining of serious left shoulder pain and limited movement was admitted. The patient was finally diagnosed with MM (IgAλ, IIIA/II). After treatment of the pathological fracture with IM nailing, the patient's function recovered and his pain was rapidly relieved. Histopathological examination demonstrated plasma cell myeloma. The patient received chemotherapy in the Hematology Department. The humeral fracture displayed good union during the 40-mo follow-up, with complete healing of the fracture, and the clinical outcome was satisfactory. At the most recent follow-up, the patient's function was assessed using the Musculoskeletal Tumor Society score, which was 29. CONCLUSION: Early surgery should be performed for the fracture of the proximal humerus caused by MM. IM nailing can be used without removal of tumors. Bone cement augmentation for bone defects and local adjuvant therapy can also be employed.

8.
Front Surg ; 9: 855409, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35402490

RESUMO

Background: Increased risk of surgical site infections (SSIs) caused by hyperglycemia makes it necessary to follow perioperative glucose lowering strategies to reduce postoperative complications. A meta-analysis was conducted to understand the efficacy of intensive vs. conventional blood glucose lowering regimens on the incidence of SSIs and hypoglycemia from various randomized controlled studies (RCTs). Materials and Methods: A systematic literature review was conducted using MEDLINE and Central databases for RCTs that involved intensive (lower blood glucose target levels) vs. conventional (higher blood glucose target levels) strategies in patients undergoing various types of surgeries. The primary outcomes were SSIs or postoperative wound infections. Hypoglycemia and mortality outcomes were also studied. A random-effects model was used to calculate the pooled risk ratio (RR), and subgroup analyses were performed. Results: A total of 29 RCTs were included in the meta-analysis with the information from 14,126 patients. A reduction in overall incidence of SSIs was found (RR 0.63, 0.50-0.80, p = 0.0002, I 2= 56%). Subgroup analyses showed that intensive insulin regimens decreased the risk of SSIs in patients with diabetes, in cardiac and abdominal surgical procedures, and during the intraoperative and postoperative phases of surgery. However, the risk of hypoglycemia and mortality was increased in the intensive group compared to the conventional group. Conclusion: The results of the meta-analysis provide support for the use of intensive insulin regimens during the perioperative phase for decreasing the incidence of SSIs in certain patient populations and surgical categories.

9.
BMC Musculoskelet Disord ; 23(1): 301, 2022 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-35351099

RESUMO

OBJECTIVE: To compare the outcomes of open reduction and hook plate fixation (ORHPF) and modified TightRope loop plate fixation (MTRLPF) in the treatment of Rockwood type III acromioclavicular joint dislocation. METHODS: This was a retrospective study. Data on 71 patients with Rockwood type III acromioclavicular joint dislocation who underwent either ORHPF (n = 39) or MTRLPF (n = 32) between January 2016 and October 2019 were extracted and analyzed. Baseline data at injury were compared to evaluate the balance. The disabilities of the arm, shoulder, and hand (DASH) score, Constant-Murley score and visual analog scores (VAS) score at 1 month, 3 months, 6 months and 12 months after operation were compared; further, at 12 months coracoclavicular distance and related complications were evaluated and compared. RESULTS: Both groups did not differ for any baseline data. At 1 and 3 months after operation, MTRLPF group exhibited a significantly better performance than the ORHPF group in VAS (1 month: 2.4 ± 1.8 vs 3.0 ± 1.7; 3 months: 1.2 ± 1.4 vs 1.8 ± 1.6), Constant-Murley (1 month: 75.2 ± 11.2 vs 63.8 ± 13.7; 3 months: 81.4 ± 9.8 vs 75.8 ± 10.6), DASH (1 month: 33.6 ± 6.8 vs 40.6 ± 6.1; 3 months: 21.2 ± 7.4 vs 25.6 ± 6.6). At 6 months, only Constant-Murley remained marginally significant (p = 0.048). At 12 months, no statistical difference was observed for any outcome variable (all P > 0.05 for VAS, Constant-Murley and DASH), coracoclavicular distance (12.7 ± 1.6 mm vs 12.2 ± 1.6 mm; P = 0.374), or overall complication rate (P = 0.763). CONCLUSIONS: For Rockwood type III acromioclavicular joint dislocation, both methods can achieve satisfactory 1-year results, but modified minimally invasive TightRope treatment is more advantageous in early functional recovery at 1 and 3-month follow-ups.


Assuntos
Articulação Acromioclavicular , Luxação do Ombro , Articulação Acromioclavicular/diagnóstico por imagem , Articulação Acromioclavicular/lesões , Articulação Acromioclavicular/cirurgia , Placas Ósseas , Humanos , Estudos Retrospectivos , Luxação do Ombro/diagnóstico por imagem , Luxação do Ombro/cirurgia , Resultado do Tratamento
10.
Nature ; 599(7886): 628-634, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34662886

RESUMO

A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing1 to explore protein-altering variants and their consequences in 454,787 participants in the UK Biobank study2. We identified 12 million coding variants, including around 1 million loss-of-function and around 1.8 million deleterious missense variants. When these were tested for association with 3,994 health-related traits, we found 564 genes with trait associations at P ≤ 2.18 × 10-11. Rare variant associations were enriched in loci from genome-wide association studies (GWAS), but most (91%) were independent of common variant signals. We discovered several risk-increasing associations with traits related to liver disease, eye disease and cancer, among others, as well as risk-lowering associations for hypertension (SLC9A3R2), diabetes (MAP3K15, FAM234A) and asthma (SLC27A3). Six genes were associated with brain imaging phenotypes, including two involved in neural development (GBE1, PLD1). Of the signals available and powered for replication in an independent cohort, 81% were confirmed; furthermore, association signals were generally consistent across individuals of European, Asian and African ancestry. We illustrate the ability of exome sequencing to identify gene-trait associations, elucidate gene function and pinpoint effector genes that underlie GWAS signals at scale.


Assuntos
Bancos de Espécimes Biológicos , Bases de Dados Genéticas , Sequenciamento do Exoma , Exoma/genética , África/etnologia , Ásia/etnologia , Asma/genética , Diabetes Mellitus/genética , Europa (Continente)/etnologia , Oftalmopatias/genética , Feminino , Predisposição Genética para Doença/genética , Variação Genética , Estudo de Associação Genômica Ampla , Humanos , Hipertensão/genética , Hepatopatias/genética , Masculino , Mutação , Neoplasias/genética , Característica Quantitativa Herdável , Reino Unido
11.
Front Oncol ; 11: 567954, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34422622

RESUMO

PURPOSE: The aim of this study was to evaluate tumor blood flow (TBF) as a predictor of radiotherapy response for nasopharyngeal carcinoma (NPC). MATERIALS AND METHOD: A total of 134 patients were divided into two groups, the complete response (CR) group and the partial response (PR) group based on RECIST 1.1 recommendations. The statistical difference was evaluated for pre- and mid- or post-treatment TBF and changes of TBF for tumors and metastatic lymph nodes between CR and PR, respectively. The receiver operation characteristic (ROC) curve was utilized to evaluate the accuracy of TBF in predicting the response of radiation therapy. The association between TBF and SUVmax was also investigated. RESULTS: The reduction of TBF in CR was significantly lower than that in PR for primary tumors (P <0.001) and metastatic lymph nodes (P <0.001). The multivariate logistic regression analysis indicated that the reduction of TBF is an independent predictor of the response of radiation therapy for primary tumors (P <0.001) and metastatic lymph nodes (P <0.001). The accuracy of TBF reduction in predicting the response of radiation therapy was 0.817 in primary tumors and 0.924 in metastatic lymph nodes, respectively. No significant correlation was observed between the TBF values and SUVmax of primary tumors (r = -0.008, P = 0.954) and metastasis lymph nodes (r = -0.061, P = 0.652). CONCLUSION: This study suggests that the reduction of TBF is a promising parameter for evaluating the response of radiation therapy.

12.
Arch Osteoporos ; 16(1): 36, 2021 02 21.
Artigo em Inglês | MEDLINE | ID: mdl-33611644

RESUMO

OBJECTIVE: The incidence of fractures in pregnancy and lactation-associated osteoporosis (PLO) is very low. Some fracture cases of PLO are associated with vertebral compression fractures, while malleolar fractures in patients with PLO are rarely reported before. CASE REPORT: A 31-year-old Han Chinese patient presented with a malleolar fracture 3 months after delivery, while she was still breastfeeding. Temporary closed reduction and plaster external fixation were performed in the emergency room. Then the patient was admitted to the orthopedic trauma ward for surgery and diagnosed as PLO by dual-energy X-ray absorptiometry (DEXA). After preoperative evaluation, the patient underwent open reduction and internal fixation. With the diagnosis of PLO, the patient was treated with weaning, bisphosphonate, and supplementation of calcium carbonate and vitamin D. During the 12-month follow-up period, the results of DEXA and laboratory examination improved gradually, and the internal fixation was removed 12 months after surgery. CONCLUSION: Orthopedic doctors should not ignore the possibility of PLO to avoid misdiagnosis of perinatal women with fractures. Improvement of functional recovery of fractures can be achieved with accurate diagnosis and individual treatment.


Assuntos
Fraturas por Compressão , Osteoporose , Complicações na Gravidez , Fraturas da Coluna Vertebral , Absorciometria de Fóton , Adulto , Densidade Óssea , Aleitamento Materno , Feminino , Fraturas por Compressão/diagnóstico por imagem , Fraturas por Compressão/etiologia , Fraturas por Compressão/cirurgia , Humanos , Lactação , Osteoporose/diagnóstico por imagem , Gravidez , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/etiologia , Fraturas da Coluna Vertebral/cirurgia
13.
J Cell Mol Med ; 25(3): 1712-1724, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33471953

RESUMO

This study explored the therapeutic effect of bone marrow mesenchymal stem cell-derived exosomes on the treatment of obesity-induced fracture healing. Quantitative real-time PCR was used to detect the expression of lncRNA H19, miR-467 and Hoxa10 and combined with WB detection to detect osteogenic markers (RUNX2, OPN, OCN). Determine whether exosomes have entered BMSCs by immunofluorescence staining. Alkaline phosphatase (ALP) and alizarin red staining (ARS) staining were used to detect ALP activity and calcium deposition. We found that high-fat treatment can inhibit the secretion of BMSCs-derived exosomes and affect the expression of H19 carried by them. In vivo and in vitro experiments show that high-fat or obesity factors can inhibit the expression of osteogenic markers and reduce the staining activity of ALP and ARS. The treatment of exosomes from normal sources can reverse the phenomenon of osteogenic differentiation and abnormal fracture healing. Further bioinformatics analysis found that miR-467 as a regulatory molecule of lncRNA H19 and Hoxa10, and we verified the targeting relationship of the three through dual luciferase report experiments. Further, we found similar phenomena in ALP and ARS staining. Bone marrow mesenchymal stem cell-derived exosomes improve fracture healing caused by obesity.


Assuntos
Exossomos/metabolismo , Consolidação da Fratura/genética , Proteínas Homeobox A10/genética , Células-Tronco Mesenquimais/metabolismo , MicroRNAs/genética , Osteogênese/genética , RNA Longo não Codificante/genética , Animais , Diferenciação Celular/genética , Células Cultivadas , Modelos Animais de Doenças , Humanos , Masculino , Camundongos , Obesidade/genética , Obesidade/metabolismo
14.
J Invest Surg ; 34(3): 262-269, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31462097

RESUMO

This study aimed to evaluate the functional outcomes and mortality following hip fracture surgery in elderly patients, and to identify the associated risk factors. Between January 2016 and December 2017, 480 consecutive patients were finally included for data analyses. The Harris score and Barthel index were used to evaluate the hip function and ability to perform activities of daily living (ADL). Univariate and multivariate logistics regression analyses were performed to determine the independent risk factors for mortality, poor hip function or poor ability to perform ADL. The mortality rate was 15.6% (75/480). In the survivors, poor outcome developed in 133 (32.8%) patients and poor ADL was in 72 (17.8%) patients. The independent factors that influenced mortality were advanced age (p = 0.033), male gender (0.031), living in rural area (p < 0.001), self-reported diabetes (p = 0.005), tumor (p = 0.024), preoperative delay >7 days (p = 0.020), postoperative drainage use (p = 0.034), WBC > 10 × 109/L (p = 0.005), reduced RBC (p = 0.011), PLT < 100 × 109/L (p < 0.001), ALB < 35 g/L (p < 0.001) and CK > 200 U/L (p = 0.003). The independent factors that influenced the hip function were male gender (p = 0.009), WBC > 10 × 109/L (p < 0.001), lower HBG (p = 0.005), and ALB < 35 g/L (p < 0.001). The independent factors that influenced the ability to perform ADL were diagnosis of trochanteric fracture (p = 0.048), preoperative delay > 7 days (p = 0.027), postoperative drainage use (p = 0.010), elevated WBC (p = 0.020), lower HGB (p < 0.001), PLT < 100 × 109/L (p = 0.002), and ALB < 35 g/L (p < 0.001). Although most of risk factors were not modifiable, they aid in patient individual risk evaluation, risk stratification, and counseling patients or relatives.


Assuntos
Atividades Cotidianas , Fraturas do Quadril , Idoso , Fraturas do Quadril/cirurgia , Humanos , Masculino , Período Pós-Operatório , Medição de Risco , Fatores de Risco
15.
Int J Gen Med ; 13: 1043-1049, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33192088

RESUMO

OBJECTIVE: Pregnancy and lactation-associated osteoporosis (PLO) is very rare, which typically occurs during the third trimester or during lactation. Many cases of PLO are associated with vertebral compression fractures or hip fractures, while distal radius fractures in patients with PLO are rarely reported. CASE REPORT: A 36-year-old patient presented with Barton fracture at 37 weeks of gestation. Temporary closed reduction and plaster external fixation were performed in emergency room. At 38 weeks of gestation, she gave birth to a healthy boy and began breastfeeding after delivery. Three days after delivery, the patient was admitted to the orthopedic ward for surgery and was diagnosed as PLO. The patient underwent open reduction and internal fixation and treated with weaning and supplementation of calcium carbonate and vitamin D. During the 1-year follow-up period, the results of laboratory tests and bone mineral density gradually returned to normal. CONCLUSION: Clinicians should be alert to the possibility of PLO to avoid missed diagnosis. Accurate diagnosis and individualized treatment are of great significance for relieving pain and functional recovery of patients.

16.
Nature ; 586(7831): 749-756, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-33087929

RESUMO

The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world1. Here we describe the release of exome-sequence data for the first 49,960 study participants, revealing approximately 4 million coding variants (of which around 98.6% have a frequency of less than 1%). The data include 198,269 autosomal predicted loss-of-function (LOF) variants, a more than 14-fold increase compared to the imputed sequence. Nearly all genes (more than 97%) had at least one carrier with a LOF variant, and most genes (more than 69%) had at least ten carriers with a LOF variant. We illustrate the power of characterizing LOF variants in this population through association analyses across 1,730 phenotypes. In addition to replicating established associations, we found novel LOF variants with large effects on disease traits, including PIEZO1 on varicose veins, COL6A1 on corneal resistance, MEPE on bone density, and IQGAP2 and GMPR on blood cell traits. We further demonstrate the value of exome sequencing by surveying the prevalence of pathogenic variants of clinical importance, and show that 2% of this population has a medically actionable variant. Furthermore, we characterize the penetrance of cancer in carriers of pathogenic BRCA1 and BRCA2 variants. Exome sequences from the first 49,960 participants highlight the promise of genome sequencing in large population-based studies and are now accessible to the scientific community.


Assuntos
Bases de Dados Genéticas , Sequenciamento do Exoma , Exoma/genética , Mutação com Perda de Função/genética , Fenótipo , Idoso , Densidade Óssea/genética , Colágeno Tipo VI/genética , Demografia , Feminino , Genes BRCA1 , Genes BRCA2 , Genótipo , Humanos , Canais Iônicos/genética , Masculino , Pessoa de Meia-Idade , Neoplasias/genética , Penetrância , Fragmentos de Peptídeos/genética , Reino Unido , Varizes/genética , Proteínas Ativadoras de ras GTPase/genética
17.
Chin J Cancer Res ; 32(3): 395-402, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32694903

RESUMO

OBJECTIVE: To compare the outcomes of dynamic hip screws (DHS) and intramedullary nailing (IMN) in the treatment of extra-capsular metastatic carcinoma of the proximal femur. METHODS: A retrospective case analysis method was used to examine data of patients with proximal metastatic cancer of the femur who were treated with internal fixation in Department of Orthopaedics, Beijing Friendship Hospital, from January 2007 to December 2018. Blood loss, postoperative pain, functional score, length of stay, and survival rates were compared, and postoperative complications were assessed. RESULTS: Complete follow-up data were available for 33 patients. The mean follow-up period was 12.2±3.6 (range: 9-32) months and the average age was 72.3±4.7 (range: 59-83) years old. There were 20 females and 13 males. Twenty-three patients had undergone IMN and 10 DHS, according to bone defects and the patient's overall condition. The median survival time was 10 months in the IMN group and 11 months in the DHS group. Duration of surgery (t=-7.366, P<0.001) and length of hospital stay (t=-3.509, P<0.001) differed significantly between the two groups. There was one case of breakage of internal fixation in the IMN group. CONCLUSIONS: There was no significant difference between DHS and IMN in terms of surgical efficacy. IMN and DHS were different in terms of surgical time and hospital stay. However, due to the limited number of cases in this study, multi-factor analysis has not been performed and needs to be further verified in future analysis. When developing a surgical plan, it is recommended to consider the patient's condition and the surgeon's experience.

18.
Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi ; 33(10): 1265-1269, 2019 Oct 15.
Artigo em Chinês | MEDLINE | ID: mdl-31544437

RESUMO

OBJECTIVE: To analyze the effectiveness of fast track protocol of geriatric intertrochanteric fracture on operative waiting time, operation time, perioperative blood loss, providing data support for clinical therapy. METHODS: The clinical data of 240 elderly patients with intertrochanteric fracture admitted between January 2015 and December 2018 were retrospectively analyzed. They were divided into traditional protocol group (148 cases, group A) and fast track group (92 cases, group B). All patients were treated with closed reduction intramedullary nail (proximal femoral nail antirotation) surgery. There was no significant difference in gender, age, sides, fracture classification, fracture type, complications, the proportion of patients with more than 3 kinds of medical diseases, and the time from injury to admission between the two groups ( P>0.05). Analysis index included operative waiting time (hospitalization to operation time), operation time, percentage of operation performing in 48 and 72 hours, percentage of transfusion, changes of hematocrit (Hct) at different stage (admission, operation day, and postoperative 1, 3 days), blood loss by fracture and cephalomedullary nail, intraoperative dominant blood loss, total blood loss in perioperative period were recorded and compared. RESULTS: The operative waiting time, operation time, Hct on operation day and postoperative 3 days, blood loss by fracture, transfusion volume, and total blood loss in perioperative period in group B were significantly less than those in group A ( P<0.05), and the percentage of operation performing in 48 and 72 hours in group B were significantly higher than those in group A ( P<0.05). There was no signifcant difference in Hct on admission and postoperative 1 day, intraoperative dominant blood loss, percentage of transfusion, blood loss by cephalomedullary nail between the two groups ( P>0.05). CONCLUSION: Fast track can shorten the operative waiting time of geriatric intertrochanteric fracture, reduce the blood loss by fracture, total blood loss in perioperative period, and transfusion volume. Early operation is conducive to improve the anemia status of patients during perioperative period.


Assuntos
Fixação Intramedular de Fraturas , Fraturas do Quadril , Idoso , Perda Sanguínea Cirúrgica , Pinos Ortopédicos , Humanos , Duração da Cirurgia , Estudos Retrospectivos
19.
Medicine (Baltimore) ; 97(52): e13787, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30593162

RESUMO

RATIONALE: Desmoplastic fibroma of the bone (DFB) is an extremely rare benign bone tumor, which can occur in any bone at all ages. Herein, we report a case of non-specific imaging findings. PATIENT CONCERNS: A 25-year-old female patient was consulted in the Armed Police General Hospital (Beijing, China) due to repeated pain in the right thigh lasting over 1 year. Imaging examination revealed a space-occupying lesion in the right femur. DIAGNOSIS: Desmoplastic fibroma of the femur INTERVENTIONS:: Wide surgical resection OUTCOMES:: At the 1-year follow-up visit, no relapse in the tumor was observed. LESSONS: In this case report, we described and emphasized the particularity of the case examined and the possible non-specificity of the imaging results of some DFB cases.


Assuntos
Neoplasias Femorais/diagnóstico por imagem , Fibroma Desmoplásico/diagnóstico por imagem , Imageamento por Ressonância Magnética , Radiografia , Tomografia Computadorizada por Raios X , Adulto , Feminino , Fêmur/diagnóstico por imagem , Humanos
20.
J Surg Res ; 225: 166-174, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29605028

RESUMO

BACKGROUND: The carrier of hydroxyethyl starch (HES) may play a critical role in kidney injury in fluid resuscitation. This study aimed mainly to compare effects of pyruvate-enriched saline with normal saline (NS) and acetate Ringer's (AR) solution as a carrier in HES130/0.4 on kidney function in rats subjected to severe burns. METHODS: Using a lethal burn model, 140 rats were randomly allocated in seven groups (n = 20): sham group (group S); no fluid after burn (group N); burn resuscitated with NS (group NS); burn resuscitated with pyruvate saline (group PS); burn resuscitated with AR plus pyruvate-HES (group SP); burn resuscitated with AR plus acetate-HES (group SA), and burn resuscitated with AR plus NS-HES (group SN). A low volume (18.75 mL·kg-1 during 12 h) of HES130/0.4 was infused with the ratio of 1:1 to crystalloids. Renal surface blood flow, blood creatinine and blood urea nitrogen, early sensitive indicators of kidney function: alpha-1 microglobulin, cystatin-C, and neutrophil gelatinase-associated lipocalin in blood and urine, and kidney tissue water contents were determined. Renal histopathological alterations with Paller scores were also measured at 8 h and 24 h after burn (n = 10), respectively. RESULTS: The results showed in a comparable manner that group SP was the best in three HES groups and group PS was superior to group NS in renal preservation; group SP appeared significantly beneficial compared with group PS in renal surface blood flow, cystatin-C, neutrophil gelatinase-associated lipocalin, water contents, and Paller scores at 8-h or both time points after burn, respectively (all P < 0.05). CONCLUSIONS: The carrier of HES130/0.4 played a crucial role in kidney injury in fluid resuscitation of rats subjected to severe burns. Pyruvate-enriched HES130/0.4 was superior and HES130/0.4, per se, might be not renocytotoxic, but renoprotective. Further studies are warranted.


Assuntos
Injúria Renal Aguda/terapia , Queimaduras/terapia , Portadores de Fármacos/química , Hidratação/métodos , Derivados de Hidroxietil Amido/administração & dosagem , Substâncias Protetoras/administração & dosagem , Ácido Pirúvico/química , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/patologia , Animais , Queimaduras/complicações , Estado Terminal/terapia , Modelos Animais de Doenças , Humanos , Infusões Intravenosas , Soluções Isotônicas/administração & dosagem , Rim/efeitos dos fármacos , Rim/patologia , Masculino , Distribuição Aleatória , Ratos , Ratos Sprague-Dawley , Resultado do Tratamento
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