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BACKGROUND@#Type 2 diabetes (T2D) is a common metabolic disorder. Due to insufficient insulin secretion or insulin resistance, increased blood glucose often leads to impaired wound healing in T2D patients. Our previous research showed that adipose-derived stem cells (ASCs) from normal mice and T2D mice improved the cutaneous wound healing of diabetic mice. We also found that the expression of neuropeptide Y (NPY) in T2D ASCs was significantly decreased. @*METHODS@#In order to explore the effects of NPY on ASCs and diabetic wound healing, we investigated the effects of NPY on ASCs proliferation and growth factors expression and secretion, the effects of NPY on skin fibroblasts, and the effects of NPY combined with ASCs on T2D wound healing. @*RESULTS@#The results showed that a certain concentration of NPY could promote the proliferation and the growth factors expression and secretion of ASCs, and promote the proliferation and migration of fibroblasts. At the same time, NPY and ASCs have a synergistic effect, which can promote wound healing and decrease inflammation in T2D wounds. NPY may regulate ASCs through the ERK pathway. These results are conducive to promoting ASCs and NPY in the treatment of diabetic wounds. @*CONCLUSIONS@#NPY can promote the effect of ASCs in the treatment of diabetic wounds.
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OBJECTIVE@#Distal hereditary motor neuropathy (dHMN) comprises a heterogeneous group of inherited disorders associated with neurodegeneration of motor nerves and neurons, mainly charac-terized by progressive atrophy and weakness of distal muscle without clinical or electrophysiological sensory abnormalities. To improve the recognition and diagnosis of the disease, we summarized the clinical manifestations, electrophysiological, pathological, and genetic characteristics in eight patients with dHMN.@*METHODS@#Eight probands from different families diagnosed with dHMN were recruited in this study between June 2018 and April 2019 at Peking University People's Hospital. Eight patients underwent complete neurological examination and standard electrophysiological examinations. The clinical criteria were consistent with the patients presenting with a pure motor neuropathy with no sensory changes on electrophysiology. The detailed clinical symptoms, neurophysiological examinations, pathological features and gene mutations were analyzed retrospectively. Genetic testing was performed on the eight patients using targeted next-generation sequencing panel for inherited neuromuscular disorder and was combined with segregation analysis.@*RESULTS@#The age of onset ranged between 11 and 64 years (median 39.5 years) in our dHMN patients. All the cases showed a slowly progressive disease course, mainly characterized by distal limb muscle weakness and atrophy. The motor nerve conduction revealed decreased compound muscle action potential amplitude and velocity, while the sensory nerve conduction velocities and action potentials were not affected. Needle electromyography indicated neurogenic chronic denervation in all patients. Muscle biopsy performed in two patients demonstrated neurogenic skeletal muscle damage. Sural nerve biopsy was performed in one patient, Semithin sections shows relatively normal density and structure of large myelinated fibers, except very few fibers with thin myelin sheaths, which suggested very mild sensory nerve involvement. Eight different genes known to be associated with dHMN were identified in the patients by next-generation sequencing, pathogenic dHMN mutations were identified in three genes, and the detection rate of confirmed genetic diagnosis of dHMN was 37.5% (3/8). Whereas five variants of uncertain significance (VUS) were identified, among which two novel variants co-segregated the phenotype.@*CONCLUSION@#dHMN is a group of inherited peripheral neuropathies with great clinical and genetic heterogeneity. Next-generation sequencing is widely used to discover pathogenic genes in patients with dHMN, but more than half of the patients still remain genetically unknown.
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Adolescent , Adult , Child , Humans , Middle Aged , Young Adult , Hereditary Sensory and Motor Neuropathy/genetics , Mutation , Peripheral Nervous System Diseases , Phenotype , Retrospective StudiesABSTRACT
BACKGROUND@#Late-onset multiple acyl-coA dehydrogenase deficiency (MADD) is an autosomal recessive inherited metabolic disorder. It is still unclear about the muscle magnetic resonance image (MRI) pattern of the distal lower limb pre- and post-treatment in patients with late-onset MADD. This study described the clinical and genetic findings in a cohort of patients with late-onset MADD, and aimed to characterize the MRI pattern of the lower limbs.@*METHODS@#Clinical data were retrospectively collected from clinic centers of Peking University People's Hospital between February 2014 and February 2018. Muscle biopsy, blood acylcarnitines, and urine organic acids profiles, and genetic analysis were conducted to establish the diagnosis of MADD in 25 patients. Muscle MRI of the thigh and leg were performed in all patients before treatment. Eight patients received MRI re-examinations after treatment.@*RESULTS@#All patients presented with muscle weakness or exercise intolerance associated with variants in the electron transfer flavoprotein dehydrogenase gene. Muscle MRI showed a sign of both edema-like change and fat infiltration selectively involving in the soleus (SO) but sparing of the gastrocnemius (GA) in the leg. Similar sign of selective involvement of the biceps femoris longus (BFL) but sparing of the semitendinosus (ST) was observed in the thigh. The sensitivity and specificity of the combination of either "SO+/GA-" sign or "BFL+/ST-" sign for the diagnosis of late-onset MADD were 80.0% and 83.5%, respectively. Logistic regression model supported the findings. The edema-like change in the SO and BFL muscles were quickly recovered at 1 month after treatment, and the clinical symptom was also relieved.@*CONCLUSIONS@#This study expands the clinical and genetic spectrums of late-onset MADD. Muscle MRI shows a distinct pattern in the lower limb of patients with late-onset MADD. The dynamic change of edema-like change in the affected muscles might be a potential biomarker of treatment response.
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Adolescent , Adult , Female , Humans , Male , Middle Aged , Young Adult , Biopsy , Methods , Carnitine , Blood , Electron-Transferring Flavoproteins , Genetics , Hamstring Muscles , Diagnostic Imaging , Metabolism , Pathology , Iron-Sulfur Proteins , Genetics , Magnetic Resonance Imaging , Methods , Multiple Acyl Coenzyme A Dehydrogenase Deficiency , Diagnostic Imaging , Genetics , Pathology , Muscle, Skeletal , Diagnostic Imaging , Metabolism , Pathology , Oxidoreductases Acting on CH-NH Group Donors , Genetics , Retrospective StudiesABSTRACT
@#Objective To evaluate the efficacy of a combination of beating-heart minimally invasive approach and leaflets augmentation technique treating severe tricuspid regurgitation (TR) after cardiac surgery. Methods From January 2015 to August 2017, patients undergoing reoperative tricuspid valve repair (TVP) with minimally invasive approach and leaflets augmentation were enrolled. Cardiopulmonary bypass (CPB) was established via femoral vessels and the procedures were performed on beating heart with normothermic CPB. A bovine pericardial patch was sutured to leaflets to augment the native anterior and posterior leaflets. Other repair techniques, such as ring implantation and leaflet mobilization, were also applied as needed. Results A total of 28 patients (mean age 55.6±10.1 years, 5 males, 23 females) were enrolled. One patient was converted to median sternotomy due to pleural cavity adhesion. Twenty-seven patients underwent totally endoscopic TVP with leaflets augmentation. No patients was transferred to tricuspid valve replacement. Two patients died in hospital. All patients were followed up for 7.4±5.0 months and there was no late death and reoperation. Regurgitation area was converted from 20.7±10.1 cm2 to 3.3±3.3 cm2 after TVP according to the latest echocardiography (P<0.001). Conclusion Minimally TVP with leaflets augmentation is effective in treating severe isolated TR after primary cardiac surgery. It can significantly increase success rate of tricuspid valvuloplasty and decrease the surgical trauma.
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@#Objective To evaluate the outcomes and summarize the clinical experience of totally endoscopic mitral valve repair with artificial chordae implantation. Methods From May 2013 to June 2016, 71 patients with mitral valve insufficiency were admitted to our hospital who underwent totally endoscopic mitral valve repair with artificial chordae implantation. There were 47 males and 24 females with the age of 46.0±14.4 years ranging from 13-78 years. The pathogenesis included degenerative valvular diseases in 63 patients, congenital valvular diseases in 4, infectious endocarditis in 2, rheumatic disease in 1 and cardiomyopathy in 1. Prolapse of anterior, posterior, or both leaflets was present in 26 (36.6%), 19 (26.8%), and 25 (35.2%) patients, respectively; one patient (1.4%) presented valve annulus enlargement and thirteen were associated with commissure lesion. The mitral regurgitation area ranged from 4.2 to 26.3 cm2 (mean, 12.2±5.6 cm2). All the procedures were performed by total endoscopy under cardiac arrest. 5-0 Gore-tex sutures were used as the material of artificial chordae which was implanted one by one. Results There was no in-hospital death. One patient was transferred to mitral valve replacement, and one median sternotomy due to bleeding. The mean cardiopulmonary bypass time was 156.0±31.6 min and aortic cross-clamp time 110.0±20.1 min. We finally had 39 isolated mitral valve repair, 28 mitral valve repair combined tricuspid valve repair, 3 mitral valve repair combined atrial septal defect closure, and 1 mitral valve repair combined correction of partial anomalous pulmonary vein connection. Each patient was implanted artificial chordae of 2.5±1.7 (ranging from 1 to 7), and 65 patients received mitral annulus (full ring). The intraoperative transoesophageal echocardiography found no mitral regurgitation in 44 patients, the area of mitral regurgitation was 0-2 cm2 in 24, and 3 patients with mitral regurgitation>2 cm2 experienced serious systolic anterior motion. Of the 3 patients with systolic anterior motion (SAM), one transferred to mitral valve replacement, one underwent mitral re-repair, and one took conservative treatment. The mean follow-up was 12.7±10.5 months (range: 1 to 36 months), while 2 patients were lost to follow up with the follow-up rate of 97.2%. Recurrent severe regurgitation occured in 3 patients, moderate in 5, mild or trivial in 27 and no regurgitation in 36. During the follow-up, 1 patient died of myocardiopathy-induced heart failure post discharge, 1 suffered from cerebral infarction, and no patient underwent reoperation. Conclusion The totally endoscopic surgical treatment of mitral valvuloplasty with artificial chordae is reliable for patients with mitral valve prolapse, which provides favorable clinical efficacy and outcomes. The difficulty lies in how to determine the appropriate length of the chordae and keep the stability of length.
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Objective To investigate the diagnostic value ofbiomarkers in cerebrospinal fluid in differentiating meningeal carcinomatosis (MC) and tubercular meningitis (TBM).Methods The clinical features and cerebrospinal fluid (CSF) test results of 34 patients with MC and 44 patients with TBM,admitted to our hospital from January 1994 to August 2014,were retrospectively analyzed and compared.Results The main clinical manifestations of MC included headache and bowel and bladder dysfunction,and those of TBM were fever and headache.The cell population of MC and TBM patients increased and the number of leucocyte of TBM patients was significantly larger than that of MC patients (P<0.05);the CSF of all the patients presented with decreased levels of glucose and chloride,and increased protein level,and higher protein in MC patients was noted than that in TBM patients (P<0.05).The biomarkers in CSF of MC and TBM patients increased to varying degrees,and the biomarkers,including carcinoembryonic antigen (CEA),cancer antigen (CA) 125,CA 199,CA 153 and CYFRA21-1,in MC group were significantly higher than those in TBM group (P<0.05).The neuron-specific enolase level in the TBM patients of Ⅲ grade was significantly higher than that in the MC patients (P< 0.05).Conclusion The detections of tumor biomarkers in cerebrospinal fluid is a tool in differentiating MC and all stages of TBM,especially with the combined detections of CEA,CA125,CA199 and CYFRA21-1.
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<p><b>OBJECTIVE</b>To investigate the expression of C5b-9 in the skeletal muscle blood vessels in patients with necrotizing myopathy and explore its role in the pathogenesis of this disease.</p><p><b>METHODS</b>The expression of C5b-9 and MHC-I in the skeletal muscular fibers and blood vessels in 4 patients with necrotizing myopathy was detected using enzymohistochemistry and immunohistochemistry.</p><p><b>RESULTS</b>Focal or dispersive necrotic muscle fibers with obvious phagocytosis were observed in all the 4 patients. No inflammatory cell infiltration was found in the perimysium or perivascular regions. HE staining showed a decreased number of local small blood vessels, and the some small blood vessels showed thickened vascular walls. Immunohistochemistry detected prominent C5b-9 expression in the necrotic muscle fibers and the blood vessels, and diffuse strong C5b-9 expression was found in the vascular walls, vascular endothelial cells and the smooth muscle layer. No MHC-I deposition was detected in the muscular fibers and blood vessels.</p><p><b>CONCLUSION</b>C5b-9 contributes to the pathogenesis of necrotizing myopathy mediated by pathologies in the blood vessels.</p>
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Aged , Female , Humans , Male , Middle Aged , Complement Membrane Attack Complex , Metabolism , Muscle, Skeletal , Muscular Diseases , Blood , Pathology , NecrosisABSTRACT
A survey on 170 health cadres and 220 normal people has shown that the rates of the positive HBsAg, possitive HBs and hepatitis B viral being infection in the health cadres were 12.35; 52.36; 64.71, respectively. These rates in the normal people were 7.73; 31.13; 39.09 respectively. As results the rate of Hepatitis B viral infection in the health cadres was higher than this in normal people.