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1.
PLoS One ; 19(6): e0299362, 2024.
Article in English | MEDLINE | ID: mdl-38905177

ABSTRACT

To explore an effective analysis model and method for estimating Cinnamomum camphora's (C. camphora's) growth using unmanned aerial vehicle (UAV) multispectral technology, we obtained C. camphora's canopy spectral reflectance using a UAV-mounted multispectral camera and simultaneously measured four single-growth indicators: Soil and Plant Analyzer Development (SPAD)value, aboveground biomass (AGB), plant height (PH), and leaf area index (LAI). The coefficient of variation and equal weighting methods were used to construct the comprehensive growth monitoring indicators (CGMI) for C. camphora. A multispectral inversion model of integrated C. camphora growth was established using the multiple linear regression (MLR), partial least squares (PLS), support vector regression (SVR), random forest (RF), radial basis function neural network (RBFNN), back propagation neural network (BPNN), and whale optimization algorithm (WOA)-optimized BPNN models. The optimal model was selected based on the coefficient of determination (R2), normalized root mean square error (NRMSE) and mean absolute percentage error (MAPE). Our findings indicate that apparent differences in the accuracy with different model, and the WOA-BPNN model is the best model to invert the growth potential of C. camphora, the R2 of the model test set was 0.9020, the RMSE was 0.0722, and the MAPE was 7%. The R2 of the WOA-BPNN model improved by 18%, the NRMSE decreased by 33%, and the MAPE decreased by 9% compared with the BPNN model. This study provides technical support for the modern field management of C. camphora essential oil and other dwarf forestry industries.


Subject(s)
Algorithms , Cinnamomum camphora , Cinnamomum camphora/growth & development , Unmanned Aerial Devices , Biomass , Animals , Soil/chemistry , Plant Leaves/growth & development , Least-Squares Analysis , Neural Networks, Computer
2.
J Orthop Surg Res ; 18(1): 487, 2023 Jul 06.
Article in English | MEDLINE | ID: mdl-37415192

ABSTRACT

BACKGROUND: Postmenopausal osteoporosis (PMOP), the most frequent bone-related disease, is characterized by bone loss and fragile fractures, which is related to low bone density (BMD). This study aimed to illustrate the expression and mechanism of miR-33a-3p in osteoporosis. METHODS: TargetScan and luciferase reporter assay were applied for verifying the relevance between miR-33a-3p and IGF2. Levels of miR-33a-3p, IGF2, Runx2, ALP and Osterix were checked using RT-qPCR and western blotting. hBMSCs proliferation, apoptosis and ALP activity were analyzed by MTT, flow cytometry (FCM) analysis and ALP detection kit, respectively. Moreover, the calcification of cells was assessed using Alizarin Red S staining. The average BMD was evaluated by dual-energy X-ray absorptiometry (DEXA) assay. RESULTS: IGF2 was a target of miR-33a-3p. The level of miR-33a-3p was substantially higher and IGF2 expression was memorably lower in the serum of osteoporosis patients than that in healthy volunteers. Our results also pointed out that miR-33a-3p was reduced and IGF2 expression was enhanced during osteogenic differentiation. We concluded that miR-33a-3p negatively regulated the level of IGF2 in hBMSCs. Besides, miR-33a-3p mimic inhibited the osteogenic differentiation of hBMSCs via inhibiting the level of Runx2, ALP and Osterix and decreasing ALP activity. IGF2 plasmid dramatically reversed the influence of miR-33a-3p mimic on IGF2 expression, hBMSCs proliferation and apoptosis, and osteogenic differentiation of hBMSCs. CONCLUSION: miR-33a-3p affected osteogenic differentiation of hBMSCs by targeting IGF2, indicating a potential use of miR-33a-3p as plasma biomarker and therapeutic target for postmenopausal osteoporosis.


Subject(s)
MicroRNAs , Osteoporosis, Postmenopausal , Osteoporosis , Female , Humans , Osteoporosis, Postmenopausal/genetics , MicroRNAs/metabolism , Core Binding Factor Alpha 1 Subunit/genetics , Core Binding Factor Alpha 1 Subunit/metabolism , Osteogenesis/genetics , Cells, Cultured , Osteoporosis/metabolism , Cell Differentiation/genetics , Insulin-Like Growth Factor II/genetics
3.
Front Microbiol ; 14: 1104077, 2023.
Article in English | MEDLINE | ID: mdl-36819046

ABSTRACT

Cinnamomum camphora (C. camphora) is a broad-leaved evergreen tree cultivated in subtropical China. Currently, the use of C. camphora clonal cuttings for coppice management has become popular. However, the effects of C. camphora coppice planting on soil abiotic and biotic variances remained unclear. In this study, we collected soil from three points in the seven-year C. camphora coppice planting land: under the tree canopy (P15), between trees (P50), and abandoned land (Control) to investigate the effects of C. camphora coppice planting on soil fertility, microbial community structure and enzyme activity. The results revealed that C. camphora coppice planting significantly increased soil fertility in the point under the tree canopy (P15) and point between trees (P50), and P15 had more significant effects than P50. Meanwhile, in P15 and P50, soil bacterial, fungal alpha-diversity were improved and microbial community structures were also changed. And the changes of soil organic carbon and total nitrogen promote the transformation of soil bacterial, fungal community structures, respectively. In addition, C. camphora coppice planting significantly (p < 0.05) increased soil urease (UE), polyphenol oxidase, and peroxidase activities, while significantly decreased soil ACP activity. This study demonstrated that the C. camphora coppice planting could improve soil fertility in subtropical China, which promoted the transformation of soil microbial community from oligotrophs (K-strategist) to copiotrophs (r-strategist). Thus, this work can provide a theoretical basis for soil nutrient variation and productive management of C. camphora coppice plantation in subtropical China.

5.
Int J Hyperthermia ; 38(1): 1584-1589, 2021.
Article in English | MEDLINE | ID: mdl-34732086

ABSTRACT

BACKGROUND: Chemotherapy is the main treatment strategy for gestational trophoblastic neoplasia (GTN). Surgical resection is crucial to deal with chemoresistance and recurrence following chemotherapy. The aim of this study was to explore if high-intensity focused ultrasound (HIFU) can be used as a complementary technique to surgical procedures in the management of GTN. CASE REPORT: This case report described two females who previously developed chemoresistance or recurrence during chemotherapy and then underwent HIFU as an adjuvant surgical salvage procedure. For high-risk GTN patients with chemoresistance, HIFU treatment decreased the risk of chemoresistance and shortened the course of chemotherapy. It also reduced the dosage of chemotherapeutic agents used for the patient who suffered a recurrence. CONCLUSION: For patients with GTN who desire to preserve their uterus, HIFU may be used as a complementary technique to surgical resection in the management of GTN.


Subject(s)
Gestational Trophoblastic Disease , High-Intensity Focused Ultrasound Ablation , Drug Resistance, Neoplasm , Female , Gestational Trophoblastic Disease/diagnostic imaging , Gestational Trophoblastic Disease/drug therapy , Gestational Trophoblastic Disease/surgery , Humans , Neoplasm Recurrence, Local/drug therapy , Pregnancy , Retrospective Studies
6.
Open Med (Wars) ; 16(1): 257-263, 2021.
Article in English | MEDLINE | ID: mdl-33623821

ABSTRACT

AIM: To study the imaging features of leukoaraiosis (LA) and hemorrhage in cerebral amyloid angiopathy (CAA) patients. METHODS: The earliest MRI images of probable CAA patients and non-CAA patients were collected. The characteristics of LA in the two groups were analyzed. Cerebral micro bleeding (CMB), superficial siderosis (SS), and intracranial hemorrhage (ICH) were recorded in the follow-up study. The space relationship between CMB or SS and ICH was assessed. RESULTS: We found that 10/21 (47.6%) patients had occipital prominent LA and 14/21 (66.7%) patients had subcortical punctate LA before the ICH, which was higher than that of the ones in the control group (p = 0.015 and 0.038, respectively). The recurrence rate of ICH was 100% (3/3) in patients with diffuse SS and 36.4% (4/11) in patients without. The recurrence rate of ICH was 60% (3/5) in patients with multiple-lobe CMBs and 44.4% (4/9) in those without. The location of the ICH and CMB was inconsistent. ICH occurred in the ipsilateral cerebral hemisphere of SS in three patients with diffuse SS. CONCLUSION: LA, diffuse SS, and multiple-lobe CMBs are important imaging characteristics of CAA, which may help make early diagnosis and predict the recurrence of ICH.

7.
J Pak Med Assoc ; 70(5): 913-916, 2020 May.
Article in English | MEDLINE | ID: mdl-32400752

ABSTRACT

GNE myopathy is an adult-onset muscle disorder featuring distal muscle atrophy and weakness. Rimmed vacuoles found in the muscle biopsies and gene mutations lead to the diagnosis of GNE myopathy. We collected clinical information, performed muscle biopsies and genetic testing on three patients. These cases developed typical disease presentations with distal muscle weakness at the ages of 26, 23, and 37 years. Their muscle pathologies revealed rimmed vacuoles. Genetic analysis led to the findings which included, c.1543-1544delGA (p.D515QfsX2)/c.38G>C (p.C13S) compound heterozygous mutation, c.733A>G (p.K245E) homozygous mutation and c.527A>T (p.D176V)/c.1634-1G>C (splicing) ; in which c.1543-1544 del GA (p.D515QfsX2), c.733A>G (p.K245E) and c.1634-1G>C (splicing) are three de novo mutations that have never been reported before. In conclusion, this study broadens the mutational spectrum of the GNE gene.


Subject(s)
Distal Myopathies , Multienzyme Complexes/genetics , Muscle, Skeletal , Adult , Biopsy/methods , China , Distal Myopathies/diagnosis , Distal Myopathies/genetics , Distal Myopathies/physiopathology , Female , Genetic Testing/methods , Humans , Male , Muscle Weakness/etiology , Muscle Weakness/pathology , Muscle, Skeletal/diagnostic imaging , Muscle, Skeletal/pathology , Mutation , Neurologic Examination/methods
9.
Neuromuscul Disord ; 30(2): 165-172, 2020 02.
Article in English | MEDLINE | ID: mdl-32001145

ABSTRACT

FHL1-related myopathies, including reducing body myopathy (RBM), X-linked scapulo-axio-peroneal myopathy, rigid spine syndrome, X-linked myopathy with postural muscle atrophy (XMPMA), X-linked Emery-Dreifuss muscular dystrophy and hypertrophic cardiomyopathy, are clinically and pathologically heterogeneous disorders caused by FHL1 gene mutations. According to previous reports, the first three types are myopathies with reducing bodies observed in biopsies, and the last three are myopathies without reducing bodies. We report four FHL1-related myopathy patients, including an XMPMA patient and a RBM family with three patients. Clinical information, muscle biopsies, electromyograms and genetic testing were obtained. Muscle weakness and atrophy, spinal rigidity, and joint contracture were present in the RBM family. The XMPMA patient showed a pseudoathletic appearance with muscle weakness and atrophy, spinal rigidity and deformity. The index patient of the RBM family underwent two muscle biopsies to find reducing bodies. Interestingly, these muscle biopsies revealed reducing bodies and rimmed vacuoles not only in the RBM family but also in the XMPMA patient. Next-generation sequencing identified a reported single missense mutation c.448 C>T (p. C150R) in the RBM family and a novel mutation c.814T>C (p. S272P) in the XMPMA patient. Therefore, FHL1-related myopathies overlap substantially and may not be simply classified into subtypes depending on reducing bodies. Biopsies of additional affected muscles can aid in finding reducing bodies. We report the first XMPMA patient with a novel FHL1 mutation and reducing bodies in a muscle biopsy in China.


Subject(s)
Intracellular Signaling Peptides and Proteins/genetics , LIM Domain Proteins/genetics , Muscle Proteins/genetics , Muscle, Skeletal/pathology , Muscular Disorders, Atrophic/genetics , Muscular Disorders, Atrophic/pathology , Adult , China , Fatal Outcome , Female , Humans , Male , Middle Aged , Muscle, Skeletal/physiopathology , Muscular Disorders, Atrophic/physiopathology , Pedigree , Young Adult
10.
Bosn J Basic Med Sci ; 20(2): 275-280, 2020 May 01.
Article in English | MEDLINE | ID: mdl-30684953

ABSTRACT

Mutations in the guanosine diphosphate mannose (GDP-mannose) pyrophosphorylase B (GMPPB) gene are rare. To date, 72 cases with GMPPB gene mutations have been reported. Herein, we reported a case of a 29-year-old Chinese male presenting with limb-girdle muscular dystrophy (LGMD) who was found to have two heterozygous GMPPB mutations. The patient had a progressive limb weakness for 19 years. His parents and elder brother were healthy. On examination he had a waddling gait and absent tendon reflexes in all four limbs. Electromyography showed myogenic damage. Muscle magnetic resonance imaging (MRI) showed fatty degeneration in the bilateral medial thigh muscles. High-throughput gene panel sequencing revealed that the patient carried compound heterozygous mutations in the GMPPB gene, c.553C>T (p.R185C, maternal inheritance) and c.346C>T (p.P116S, paternal inheritance). This case provides additional information regarding the phenotypic spectrum of GMPPB mutations in the Chinese population.


Subject(s)
Muscular Dystrophies, Limb-Girdle/diagnosis , Muscular Dystrophies, Limb-Girdle/genetics , Mutation/genetics , Nucleotidyltransferases/genetics , Adult , China , Humans , Male
12.
Oncol Lett ; 15(5): 7163-7167, 2018 May.
Article in English | MEDLINE | ID: mdl-29725439

ABSTRACT

Tumor necrosis factor-α (TNF-α) is closely related to the occurrence of human cancers. Cervical cancer seriously affects female health. Therefore, our study aimed to investigate the correlation between the polymorphism of TNF-α-308 gene and susceptibility to cervical cancer. Whole blood was collected from 142 patients with cervical cancer and 150 healthy controls. PCR-RFLP was used to detect the polymorphism of TNF-α-308 and the correlation between polymorphism of TNF-α-308 and the susceptibility to cervical cancer was analyzed. The three genotypes of TNF-α-308 were GG, GA and AA, and the distributions of genotypes of TNF-α-308 were consistent with Hardy-Weinberg equilibrium in both cervical cancer group and control group. There were no significant differences in genotype and allele frequency between cervical cancer group and healthy control group (P>0.05). A/A genotype increased the risk of cervical cancer by 1.46 times with 95% confidence interval of 0.32-6.67. Different genotypes were not associated with tumor type (P>0.05). Different genotypes are correlated with cervical cancer TNM stages, tumor differentiation and lymph node metastasis. Proportion of GA+AA genotype in TNM stage III+IV group, low differentiation group and lymph node metastasis group were 28.1, 29.0 and 29.8%, respectively, which were significantly higher than those in stage I+II group, moderate/high differentiation group and non-lymph node metastasis group (P<0.05). The results suggested that TNF-α-308 gene polymorphism is associated with the degree of malignancy of cervical cancer. Female patients with A allele have higher malignant degree of cervical cancer.

13.
Int J Clin Exp Pathol ; 11(5): 2907-2911, 2018.
Article in English | MEDLINE | ID: mdl-31938415

ABSTRACT

OBJECTIVE: The following study compared the pathological findings between sporadic inclusion body myositis (sIBM) and Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase myopathy (GNEM) patients. METHODS: An enzyme histochemistry was used to compare the pathological characteristics between 11 patients with sIBM and 16 patients with GNEM. RESULTS: There were four pathological differences observed: (1) A majority of the rimmed vacuoles found in the sIBM patients resembled cracks, whereas the GNEM patients (P=0.004) had round or oval vacuoles. (2) A majority of the rimmed vacuoles that were located in the periphery of the atrophic muscle fibers of the sIBM patients. The patients with GNEM had a majority of the rimmed vacuoles in the center of the atrophic muscle fibers (P=0.001). (3) The patients with sIBM had basophilic granules in the rimmed vacuoles, which appeared to be fine granules that were sand-like particles. The GNEM patients had coarse granules (P=0.018). (4) The proportion of mononuclear cells invasion of muscle fibers was larger in the sIBM patients than the GNEM patients (P=0.047). The GNEM patients were younger on average than the sIBM patients at the onset of symptoms (P<0.001) and at the diagnosis age (P<0.001). The electromyography (EMG) showed the presence of myogenic lesions in 10 patients with sIBM, both myogenic and neurogenic lesions in one patients with sIBM and myogenic lesions in 16 patients with GNEM. CONCLUSION: There were significant differences in the morphologies of the rimmed vacuoles between sIBM patients and GNEM patients.

14.
Chin Med J (Engl) ; 129(15): 1805-10, 2016 Aug 05.
Article in English | MEDLINE | ID: mdl-27453229

ABSTRACT

BACKGROUND: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopathy with rimmed vacuoles in a large family with 11 patients of three generations affected. METHODS: A clinical study including family history, obstetric, pediatric, and development history was recorded. Clinical examinations including physical examination, electromyography (EMG), serum creatine kinase (CK), bone X-rays, and brain magnetic resonance imaging (MRI) were performed in this family. Open muscle biopsies were performed on the proband and his mother. To find the causative gene, the whole-exome sequencing was carried out. RESULTS: Disease onset was from adolescence to adulthood, but the affected patients of the third generation presented an earlier onset and more severe clinical manifestations than the older generations. Clinical features were characterized as dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision. However, not every patient manifested all symptoms. Serum CK was mildly elevated and EMG indicated a myopathic pattern. Brain MRI showed cerebellum and brain stem mildly atrophy. Rimmed vacuoles and inclusion bodies were observed in muscle biopsy. The whole-exome sequencing was performed, but the causative gene has not been found. CONCLUSIONS: We reported a novel autosomal dominant myopathy with rimmed vacuoles characterized by dysarthria, dysphagia, external ophthalmoplegia, limb weakness, hypophrenia, deafness, and impaired vision, but the causative gene has not been found and needs further study.


Subject(s)
Deafness/diagnosis , Muscular Diseases/diagnosis , Muscular Diseases/physiopathology , Muscular Dystrophy, Oculopharyngeal/diagnosis , Vision Disorders/diagnosis , Adolescent , Adult , Child , Deafness/physiopathology , Dysarthria/diagnosis , Dysarthria/physiopathology , Electromyography , Female , Humans , Male , Muscle Weakness/diagnosis , Muscle Weakness/physiopathology , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Muscular Dystrophy, Oculopharyngeal/physiopathology , Pedigree , Vacuoles/pathology , Vision Disorders/physiopathology , Young Adult
15.
Neurol Neurochir Pol ; 49(4): 245-50, 2015.
Article in English | MEDLINE | ID: mdl-26188941

ABSTRACT

This study is to investigate the clinical and pathologic features of sporadic inclusion body myositis (sIBM) in China. We retrospectively evaluated the clinical and pathological features of consecutive patients in our department between January 1986 to May 2012. Total 28 cases of sIBM (20 males, 8 females, mean age was 56.93±8.79) were obtained by review of all 4099 muscle biopsy reports. The proportion of sIBM was 0.68% (28/4099) in China. Muscle weakness of quadriceps appeared 100% in 28 cases, while conspicuous atrophy of quadriceps appeared only in five cases (17.86%). Creatase values of 28 patients with sIBM were normal or mildly elevated. Muscle biopsies showed that atrophic fibers resembled more frequent in small angular and irregular shape (82.14%), less common in small round shape (17.86%). Rimmed vacuoles resembled crack (67.86%) and round (32.14%) shape. Mononuclear cell invasion into necrotic muscle fibers (35.71%) was more frequent than non-necrotic muscle fibers (7.14%). sIBM was still a rare disease in China compared to other countries. There were some certain specific pathological characteristics existed in Chinese sIBM patients.


Subject(s)
Myositis, Inclusion Body , Adult , Aged , China/epidemiology , Female , Humans , Male , Middle Aged , Myositis, Inclusion Body/epidemiology , Myositis, Inclusion Body/pathology , Myositis, Inclusion Body/physiopathology
16.
Proteome Sci ; 12(1): 45, 2014.
Article in English | MEDLINE | ID: mdl-25253997

ABSTRACT

BACKGROUND: Sporadic inclusion body myositis (s-IBM) is the most commonly occurring acquired inflammatory myopathy in elderly people (>45 years); however, pathogenic mechanisms are poorly understood and diagnostic tools are limited. In view of this, new therapeutic and diagnostic molecular markers for s-IBM need to be identified. EXPERIMENTAL DESIGN: In this study, the proteomes from three s-IBM cases were compared with those from three cases of neurogenic muscular atrophy (control). Proteins were separated by 2-dimensional polyacrylamide gel electrophoresis and profiled by mass spectrometric sequencing and subsequently validated by western blot. RESULTS: Differential expression was noted in 29 proteins (16 upregulated and 13 downregulated) in s-IBM compared with the control group. Functions of these proteins include oxidative stress response, regulation of apoptosis, signal transduction, and cytoskeleton. Expression of both amyloid precursor protein (APP) and αB-crystallin was increased in s-IBM cases. CONCLUSIONS: Our study reveals a unique pattern of protein expression in s-IBM, which should be further investigated in a wider cohort of IBM patients to fully realize the potential diagnostic or therapeutic benefits.

17.
Int J Clin Exp Pathol ; 7(7): 4143-9, 2014.
Article in English | MEDLINE | ID: mdl-25120794

ABSTRACT

This study is to investigate the expression of complement membrane attack complex (C5b-9) in the skeletal muscle of patients with necrotizing myopathy (NM), and to investigate the relationship between C5b-9 and NM. Thirteen patients with NM and control patients with polymyositis and muscular dystrophy were enrolled in this study. Examinations including creatine kinase (CK) and L-lactate dehydrogenase (LDH) in the serum, electromyogram and muscle pathological examination were performed. C5b-9 expression in the skeletal muscle was determined by immunohistochemistry and analyzed by Image Plus Pro 6.0. C5b-9 expression was particularly prominent in necrotic muscle fibers, and also positive in blood vessels. C5b-9 diffusely expressed in vascular endothelial cells and smooth muscle layer. But the intensity was not related with the elevated level of serum CK. So, C5b-9 is strongly expressed in the necrotic muscle fiber and blood vessels, and may contribute to the pathogenesis of NM.


Subject(s)
Complement Membrane Attack Complex/immunology , Muscle, Skeletal/pathology , Muscular Diseases/immunology , Muscular Diseases/pathology , Adolescent , Adult , Aged , Child , Complement Membrane Attack Complex/analysis , Female , Humans , Immunohistochemistry , Male , Middle Aged , Muscle, Skeletal/immunology , Necrosis , Young Adult
18.
Nan Fang Yi Ke Da Xue Xue Bao ; 32(5): 714-7, 2012 May.
Article in Chinese | MEDLINE | ID: mdl-22588932

ABSTRACT

OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: C5b-9 contributes to the pathogenesis of necrotizing myopathy mediated by pathologies in the blood vessels.


Subject(s)
Complement Membrane Attack Complex/metabolism , Muscle, Skeletal/blood supply , Muscular Diseases/blood , Muscular Diseases/pathology , Aged , Female , Humans , Male , Middle Aged , Necrosis
19.
Neurol Res ; 33(10): 1025-31, 2011 Dec.
Article in English | MEDLINE | ID: mdl-22196754

ABSTRACT

OBJECTIVES: Distal myopathy with rimmed vacuoles (DMRV) is a typical autosomal recessive hereditary inclusion body myopathy, characterized by slowly progressive distal muscle weakness with relative sparing of the quadriceps. This study aimed to investigate the variability of clinical and morphological presentation and the spectrum of Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE) mutations in Chinese DMRV patients. METHODS: We retrospectively reviewed the medical records of 37 patients with DMRV in PLA General Hospital from 1986 to 2011, and further conducted a review of 16 reported Chinese DMRV patients from other hospitals. We systematically analyzed the clinical, muscle morphological features and GNE gene mutation status of all DMRV patients. RESULTS: A total of 53 DMRV patients were studied. Fourteen cases had family history and other 39 cases were sporadic. Fifteen cases showed atypical pathological presentation as mononuclear cell invasion into necrotic or non-necrotic muscle fibers. Rare initial symptom, earlier age of onset and more dysmorphic presentations were shown in sporadic patients. Eighteen mutations in GNE gene were identified. c.317T>C (p.I106T) was a novel GNE gene mutation. c.1892C>T (p.A631V), c.527A>T (p.D176V) and c.1523T>C (p.L508S) were the common GNE mutations in Chinese DMRV patients. DISCUSSION: The clinical, pathological and genetic characteristics of DMRV are distinct in Chinese patients.


Subject(s)
Distal Myopathies/enzymology , Distal Myopathies/genetics , Genetic Predisposition to Disease/genetics , Muscle, Skeletal/enzymology , Point Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Distal Myopathies/pathology , Female , Genetic Predisposition to Disease/ethnology , Humans , Male , Middle Aged , Muscle, Skeletal/metabolism , Muscle, Skeletal/pathology , Muscle, Skeletal/physiopathology , Retrospective Studies , Young Adult
20.
Nan Fang Yi Ke Da Xue Xue Bao ; 31(8): 1421-4, 2011 Aug.
Article in Chinese | MEDLINE | ID: mdl-21868336

ABSTRACT

OBJECTIVE: To investigate GNE gene mutations in 5 Chinese patients with distal myopathy with rimmed vacuoles (DMRV). METHODS: Five patients with typical clinical and pathological features of DMRV were studied. All the 11 coding exons and the flanking intron sequences of GNE gene were amplified by PCR and sequenced. Four family members of case 5 were also examined for GNE gene mutations. RESULTS: All the patients were identified to have different GNE gene mutations: Cases 1-4 had complex heterozygous mutations and case 5 had homozygous mutation. Six reported mutations had been identified, including 1 nonsense mutation (p.R8X) and 5 missense mutations (p.D176V, p.I298T, p.A591T, P.A631V, and p.V696M). A novel mutation (c.317T>C, p.I106T) was identified in case 2. CONCLUSION: This is the first report of p.R8X, p.I298T, p.A591T and p.V696M mutations in GNE gene in Chinese population, and a novel mutation p.I106T was identified. These findings further expand the clinical and genetic spectrum of DMRV in China.


Subject(s)
Distal Myopathies/genetics , Multienzyme Complexes/genetics , Mutation/genetics , Adult , Asian People/genetics , Base Sequence , DNA Mutational Analysis , Distal Myopathies/enzymology , Female , Humans , Male , Molecular Sequence Data , Mutation, Missense/genetics , Young Adult
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