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1.
Zhong Nan Da Xue Xue Bao Yi Xue Ban ; 49(1): 95-112, 2024 Jan 28.
Artigo em Inglês, Zh | MEDLINE | ID: mdl-38615171

RESUMO

OBJECTIVES: Anterior cruciate ligament injury is the most common type of knee joint ligament injury. Anterior cruciate ligament reconstruction has a high failure rate, with bone tunnel abnormalities as the most significant factor in these failures. Digital orthopedic technology can effectively develop implementation plans for the revision, thus increasing the success rate. This study aims to develop a surgical plan for anterior cruciate ligament revision by employing multiplanar reconstruction (MPR) for measuring bone tunnel position and diameter, and simulating bone tunnel creation via 3D printing preoperatively. METHODS: A total of 12 patients who underwent anterior cruciate ligament revision at the Third Xiangya Hospital of Central South University between 2014 and 2021 were retrospectively studied. The data included patient demographics, preoperative formulated knee joint 3D printing models, and preoperative knee CT scans. The study measured the bone tunnel's diameter and position to guide the establishment of revision bone tunnels during surgery, reassessed the postoperative bone tunnels, and evaluated knee joint functional scores [including International Knee Documentation Committee Knee Evaluation Form (IKDC) score, Lysholm score, and Tegner exercise level score]. RESULTS: Preoperative measurements revealed suboptimal femoral tunnels positions in 4 patients and tibial tunnels positions in 2 patients. MPR and 3D printing technology were used to guide the establishment of a new bone canal during surgery, and postoperative measurements were satisfactory for all patients. Preoperative measurements demonstrated the interclass correlation coefficient for femoral tunnels and tibial tunnels diameters were 0.843 (P<0.05) and 0.889 (P<0.001), respectively. Meanwhile, the intraclass correlation coefficient were 0.811 (P<0.05) and 0.784 (P<0.05), respectively. The intraoperative diameter of femoral and tibial tunnels showed excellent correlation with postoperative CT measurements, with intraclass correlation coefficient values of 0.995 (P<0.001) and 0.987 (P<0.001), respectively. All bone tunnel positions were within the normal range. At the final follow-up, knee joint function scores in all 12 patients improved significantly compared to pre-surgery (P<0.001), and the reoperation rate was zero. CONCLUSIONS: MPR and 3D printing technology can accurately measure the parameters of reconstructed anterior cruciate ligament bone tunnels. Personalized revision plans for patients with reconstruction failure enhances the success rate of revision surgery and improves patient prognosis.


Assuntos
Ligamento Cruzado Anterior , Articulação do Joelho , Humanos , Ligamento Cruzado Anterior/cirurgia , Estudos Retrospectivos , Articulação do Joelho/cirurgia , Impressão Tridimensional
2.
BMC Pediatr ; 23(1): 331, 2023 06 29.
Artigo em Inglês | MEDLINE | ID: mdl-37386372

RESUMO

INTRODUCTION: Only a few case reports regarding pediatric posterior cruciate ligament (PCL) ruptures without bone avulsion exist in the literature. The present study aims to share our experience in the diagnosis, treatment, and prognosis of a child with a proximal PCL tear. MATERIALS AND METHODS: This article reports a 5-year-old female diagnosed with a proximal PCL tear. The ruptured PCL was repaired with an all-epiphyseal suture tape augmentation (STA) without evidence of growth plate violation. RESULTS: The suture tape was removed under arthroscopy and revealed the PCL was re-attached at 12 months after the first surgery. And at the time of this report, 36 months after surgery, she was doing well without any problems and with negative posterior drawer test. CONCLUSIONS: Pediatric PCL tear without bone avulsion is rare. However, the torn PCL was noticed healed based on an arthroscopic second-look.


Assuntos
Ligamento Cruzado Posterior , Feminino , Humanos , Criança , Pré-Escolar , Ligamento Cruzado Posterior/diagnóstico por imagem , Ligamento Cruzado Posterior/cirurgia , Epífises , Lâmina de Crescimento , Suturas
3.
J Cell Mol Med ; 22(11): 5533-5538, 2018 11.
Artigo em Inglês | MEDLINE | ID: mdl-30160005

RESUMO

GNE myopathy is a rare, recessively inherited, early adult-onset myopathy, characterized by distal and proximal muscle degeneration which often spares the quadriceps. It is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE). This study aimed to identify the disease-causing mutation in a three-generation Han-Chinese family with members who have been diagnosed with myopathy. A homozygous missense mutation, c.1627G>A (p.V543M) in the GNE gene co-segregates with the myopathy present in this family. A GNE myopathy diagnosis is evidenced by characteristic clinical manifestations, rimmed vacuoles in muscle biopsies and the presence of biallelic GNE mutations. This finding broadens the GNE gene mutation spectrum and extends the GNE myopathy phenotype spectrum.


Assuntos
Miopatias Distais/genética , Predisposição Genética para Doença , Complexos Multienzimáticos/genética , Músculo Esquelético/metabolismo , Adulto , Povo Asiático/genética , Biópsia , Miopatias Distais/diagnóstico por imagem , Miopatias Distais/patologia , Feminino , Homozigoto , Humanos , Masculino , Músculo Esquelético/patologia , Mutação de Sentido Incorreto , Linhagem , Fenótipo , Vacúolos/genética , Vacúolos/patologia
4.
Biol Chem ; 396(1): 27-33, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25060345

RESUMO

Familial hypophosphatemic rickets (HR), the most common inherited form of rickets, is a group of inherited renal phosphate wasting disorders characterized by growth retardation, rickets with bone deformities, osteomalacia, poor dental development, and hypophosphatemia. The purpose of this study was to identify the genetic defect responsible for familial HR in a four-generation Chinese Han pedigree by exome sequencing and Sanger sequencing. Clinical features include skeletal deformities, teeth abnormalities, hearing impairments and variable serum phosphate level in patients of this family. A novel deletion mutation, c.1553delT (p.F518Sfs*4), was identified in the X-linked phosphate regulating endopeptidase homolog gene (PHEX). The mutation is predicted to result in prematurely truncated and loss-of-function PHEX protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in HR, a disorder with genetic and clinical heterogeneity. The findings may also provide new insights into the cause and diagnosis of HR, and have implications for genetic counseling and clinical management.


Assuntos
Exoma/genética , Raquitismo Hipofosfatêmico Familiar/genética , Endopeptidase Neutra Reguladora de Fosfato PHEX/genética , Adolescente , Adulto , Criança , China , Feminino , Aconselhamento Genético , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Endopeptidase Neutra Reguladora de Fosfato PHEX/metabolismo , Análise de Sequência
5.
Cell Metab ; 31(5): 937-955.e7, 2020 05 05.
Artigo em Inglês | MEDLINE | ID: mdl-32325032

RESUMO

Cell proliferation and inflammation are two metabolically demanding biological processes. How these competing processes are selectively executed in the same cell remains unknown. Here, we report that the enzyme carbamoyl-phosphate synthetase, aspartyl transcarbamoylase, and dihydroorotase (CAD) deamidates the RelA subunit of NF-κB in cancer cells to promote aerobic glycolysis and fuel cell proliferation in tumorigenesis. This post-translational modification switches RelA function from mediating the expression of NF-κB-responsive genes to that of glycolytic enzymes, thus shunting the cell's inflammatory response to aerobic glycolysis. Further, we profiled diverse human cancer cell lines and found that high CAD expression and a subset of RELA mutations correlated with RelA deamidation. And by use of inhibitors of key glycolytic enzymes, we validated the pivotal role of RelA deamidation in tumorigenesis of cancer cell lines. This work illuminates a mechanism by which protein deamidation selectively specifies gene expression and consequent biological processes.


Assuntos
Inflamação/metabolismo , Fator de Transcrição RelA/metabolismo , Animais , Proliferação de Células , Células Cultivadas , Glicólise , Humanos , Masculino , Camundongos , Camundongos Nus , Mutação , Fator de Transcrição RelA/genética
6.
Food Funct ; 10(1): 151-162, 2019 Jan 22.
Artigo em Inglês | MEDLINE | ID: mdl-30516208

RESUMO

Previous studies suggested the anti-diabetic effect of mogrosides in type 1 diabetes. To evaluate the potential effect of mogrosides in type 2 diabetes, we herein investigated the hypoglycemic and hypolipidemic effects and the underlying mechanism of mogroside-rich extract (MGE) using a high-fat diet in combination with streptozotocin (STZ)-induced diabetic model. MGE feeding for 5 weeks did not result in any obvious impact on the body weight and energy intake, but caused a moderate decrease of organ index in diabetic mice. MGE-supplemented diabetic mice showed a notable reduction of fasting blood glucose (FBG), glycated serum protein (GSP), serum insulin, homeostasis model assessment-insulin resistance (HOMA-IR), and serum atherogenic lipid profiles in a dose-dependent manner, whereas significant increases in the anti-atherogenic lipid profile, insulin sensitivity, glucose and insulin tolerance capacity with high dose (300 mg kg-1) MGE were observed (P < 0.01). Besides, hepatocyte polymorphism, lipid accumulation and steatosis were ameliorated and restored to near normal at the high dose. Furthermore, hepatic 5'AMP-activated protein kinase (AMPK) signaling was dose-dependently activated. Accordingly, the mRNA levels of hepatic gluconeogenic and lipogenic genes were downregulated and fat oxidation-associated genes were upregulated. These findings suggest that the hypoglycemic and hypolipidemic activities of MGE are probably attributed to the attenuation of insulin resistance and activation of hepatic AMPK signaling.


Assuntos
Cucurbitaceae/química , Diabetes Mellitus Tipo 2/tratamento farmacológico , Glucosídeos/administração & dosagem , Hipoglicemiantes/administração & dosagem , Hipolipemiantes/administração & dosagem , Extratos Vegetais/administração & dosagem , Proteínas Quinases/metabolismo , Quinases Proteína-Quinases Ativadas por AMP , Animais , Glicemia/metabolismo , Diabetes Mellitus Tipo 2/etiologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Dieta Hiperlipídica/efeitos adversos , Frutas/química , Gluconeogênese/efeitos dos fármacos , Glucosídeos/análise , Humanos , Hipoglicemiantes/análise , Hipolipemiantes/análise , Resistência à Insulina , Fígado/efeitos dos fármacos , Fígado/enzimologia , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Extratos Vegetais/análise , Proteínas Quinases/genética , Estreptozocina
7.
Neural Regen Res ; 9(10): 1031-40, 2014 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-25206756

RESUMO

This study investigated the possible involvement of microRNAs in the regulation of genes that participate in peripheral neural regeneration. A microRNA microarray analysis was conducted and 23 microRNAs were identified whose expression was significantly changed in rat dorsal root ganglia after sciatic nerve transection. The expression of one of the downregulated microRNAs, microRNA-214, was validated using quantitative reverse transcriptase-PCR. MicroRNA-214 was predicted to target the 3'-untranslated region of Slit-Robo GTPase-activating protein 3. In situ hybridization verified that microRNA-214 was located in the cytoplasm of dorsal root ganglia primary neurons and was downregulated following sciatic nerve transection. Moreover, a combination of in situ hybridization and immunohistochemistry revealed that microRNA-214 and Slit-Robo GTPase-activating protein 3 were co-localized in dorsal root ganglion primary neurons. Western blot analysis suggested that Slit-Robo GTPase-activating protein 3 was upregulated in dorsal root ganglion neurons after sciatic nerve transection. These data demonstrate that microRNA-214 is located and differentially expressed in dorsal root ganglion primary neurons and may participate in regulating the gene expression of Slit-Robo GTPase-activating protein 3 after sciatic nerve transection.

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