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Objective To develop a new risk model for predicting type 2 diabetes (T2D) in a rural Chinese population in north China.Methods A village-based cohort study was performed.Data from Handan Eye Study conducted from 2006-2013 comprising 4 132 participants aged 30 years old (1 793 male and 2 339 female) with complete diabetes data at baseline and follow-up were analyzed.The blood biomarkers of T2D incident risk were screened and a new risk model was derived by using unconditional stepwise logistic regression after adjustment of age,body mass index (BMI),waist circumference,and family history of diabetes in random two-thirds of the sample cohort (selected randomly).In addition,a simple point system for T2D risk was built according to the procedures as described in Framingham Study,and the new risk score was subsequently validated in the final one-third of the sample cohort.Results The new risk score included age (8 points),BMI (6 points),waist circumference (8 points),family history of diabetes (9 points),fasting plasma glucose (23 points),and triglycerides (4 points).The score ranged from 0 to 58.The AUC was 0.802 (0.780-0.822) in the validation sample.At the optimal cutoff value of 27,the sensitivity and specificity were 70.27％ (58.50％-80.30％) and 80.83％ (78.60％-82.90％) respectively.Conclusions A new risk model for predicting T2D have been developed in a rural Chinese population in north China,and the risk score can be used in rural basic health care settings after validation.
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Objective To analyze the clinical features of 35 cases of Kennedy's disease and the correlation be?tween clinical features and CAG repeat size to strengthen the understanding of KD and to avoid misdiagnosis and delayed diagnosis.Methods Clinical data, including clinical signs and symptoms ,serum lipid, serum sex hormone level, electro?myography, the number of CAGs and (amyotrophic lateral sclerosis muscular atrophy,ALS) rating scale were collected from 35 patients genetically diagnosed of Kennedy disease and proceed system analysis. Results Patients with KD were adult onset with the average age of (40.77 ± 8.57) years and the average confirmed course were (8.32 ± 4.17) years. Forty-two point nine percent of the patients had family history. Clinical features included medulla oblongata and spinal muscular atrophy and weakness, limbs tremor, perioral muscles twitch and endocrine function and metabolic disorders in some cases. Creatine kinase, triglyceride, low density lipoprotein, follicle estrogen and prolactin were significantly in?creased compared to healthy adults (P:0.000,0.018,0.000,0.000,0.003). The number of CAG repeat was negatively correlated with the onset age (r=-0.549, P=0.001) but not associated with the illness severity (ALS rating scale) (r=0.001, P=0.998). ALS score was negatively correlated with course of disease(r=-0.540, P=0.001).Conclusions Chinese KD pa? tients share similar clinical phenotypes with those of other races but exhibit slightly different clinical characteristics. The length of the CAG repeat influences age at onset but not the severity of disease. Severity of disease is related to the course of disease.
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Objective To describe the clinical features, differential diagnosis and therapeutic method of Madras motor neuron disease (MMND) to improve the understanding of MMND. Methods We retrospectively summarized the clinical data of 3 MMND patients. and conducted the related literature review to compare the similarities and differences on clinical features between our cases and foreign MMND patients. Results Patients in the present study were adult-on?set without definite family history. The main manifestations were multiple lower cranial nerve palsies along with weakness and wasting of proximal limbs. Bifacial palsy and dysarthria were most presented in patients, while definite hearing im?pairment was rarely seen. Two patients had fasciculation and atrophy in tongue and one presented with dysphagia. Weak?ness and atrophy were more frequently presented in upper extremities than in lower limbs. All patients had signs of upper motor neuron damage. The level of creatine kinase (CK) moderately increased in one case. Electromyography (EMG) de?tected a widespread neuronal damage in all patients. MMND should be differentiated from Amyotrophic Lateral Sclerosis, Kennedy Disease and Brown–Vialetto–van Laere Syndrome. Intravenous immunoglobulin therapy showed effective in some cases to some extent. Compare to foreign MMND patients, bifacial weakness at onset was more frequently presented in our patients, but hearing impairment was absent. Conclusion The clinical features of MMND include weakness and at?rophy of limbs, involvement of facial and bulbar muscles, pyramidal dysfunction and hearing impairment. Some clinical manifestations of our patients are different from foreign MMND patient.
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Objective To develop a convenient, rapid and specific method using real-time fluorescent quantitative polymerase chain reaction (FQ-PCR) for detection of facioscapulohumeral muscular dystrophy(FSHD). Methods Genomic DNA was extracted and digested by restricted endonuclease EcoR Ⅰ , followed by agarose electrophoresis. The DNA (< 38 kb) was retrieved from agarose electrophoretic gels. The primers and probe were designed in D4ZA gene in chromosome 4. One hundred and fifteen subjects were examined by FQ-PCR using the retrieved DNA (<38 kb) as a template and the result was analyzed by fluorescent curve comparing with positive control. Results The results by FQ-PCR showed that 13 cases were positive in 16 FSHD cases whose EcoR Ⅰ fragment sizes were known, 75 cases were negative in 78 cases of normal controls, 15 cases were positive in 16 FSHD cases diagnosed clinically whose EcoR Ⅰ fragment sizes were unknown, and 3 cases were positive in 5 cases of relatives of FSHD patients. Consistency was checked using Kappa index between the 2 gene diagnostic tests for FSHD (FQ-PCR test and the traditional Southern blotting test), and between the 2 diagnostic criterions (gene diagnosis by FQ-PCR and clinical diagnosis). The results were statistically significant (κ = 0. 765, P = 0. 002 ; κ = 0. 844, P = 0. 000). Conclusions A new genetic diagnostic method of FSHD by FQ-PCR was developed, which was more simplified and reliable compared to the time-consuming, radioactive Southern blotting. It could also detect the D4Z4 arrays in cases having deletion of p13E-11 as well as the interchromosomal exchange between 4q35 and 10q26. The new method of FQ-PCR for FSHD may be extended to utilize clinically in future.
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Amyotrophic lateral sclerosis is a progressive neurodegenerative disease that targets motor neurons without efficient treatment. Stem cell receives the enormous attention because it from specific tissues can differentiate into motor neuron. Stem cells from specific tissues could be used for amyotrophic lateral sclerosis, such as embryonic stem cells, neural stem cells, bone marrow mesenchymal stem cells, umbilical cord blood-derived stem cells and induced pluripotent stem cells. The mechanism of stem-cell therapy includes cell-replacement, delivery neurotrophic factors and immunomodulation. Animal researches and some clinical trails have confirmed that stem cells have great potential to treat neurodegenerative diseases. Till now, people are still unknown some aspects of stem cells, and many problems still need to be resolved.
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AIM: To investigate the immunoblot changeS of dystrophin expression in mdx mice after bone marrow stem cells transplantation. METHODS: The experiment was conducted in the laboratory of Department of Neurology, the First Affiliated Hospital, Sun Yat-sen University from September to December 2004. ①Twenty-five mdx mice of 7-8 weeks old were selected and randomly divided into transplantation 4, 8, 12 and 16 weeks groups and blank control group with 5 mice in each group. Meanwhile, 20 C57 mice of 4 to 6 weeks old were selected as donor mice, and 5 C57 mice aged 10 weeks served as positive control mice. ②All mice were preconditioned with 7 Gy ?-ray. After radiotherapy, 2?107 marrow stem cells per mouse (about 0.3-0.5 mL) were injected into the vena caudalis of mice; 0.3 mL PBS was injected into the blank control group and positive control group. ③The mice in 4 transplantation groups were killed at each time point, and the gastrocnemius was harvested to prepare dystrophin samples. The amount of dystrophin expression was detected by Western blot with GAPDH as control. RESULTS: All 25 mdx mice and 5 C57 mice were involved in the result analysis. Western Blot analysis of dystrophin after transplantation: No dystrophin was detected in the blank control group; in the 4 weeks after transplantation group, only few dystrophin expressions were detected, and the dystrophin/GAPDH was about 0.095?0.267; in the 12 weeks after transplantation group, dystrophin/GAPDH was about 0.218?0.338; dystrophin expressions were increased with time, at 16 weeks after transplantation, the expressions were much more than those at 8 weeks (dystrophin/GAPDH: 0.393?0.385, 0.173?0.284, t =6.062, P
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<p><b>OBJECTIVE</b>To finish the work of sequencing the full sequence of intron 51 of dystrophin gene and understand its characteristic of sequence.</p><p><b>METHODS</b>The whole intron 51 was sequenced by primer walking. The sequencing results were analyzed by repeat sequences, matrix attachment region (MAR) and topoisomerase II cleavage sites. The residue sequences, after removal of the repetitive sequences, were subjected to the analysis of CpG islands, promoter, open reading frame (ORF) and unidentified low copy repeat sequence.</p><p><b>RESULTS</b>The acquired intron 51 sequence was composed of 38725 bp. Repetitive sequences constituted 37.53% of total intron sequence. The overall G+C content of intron 51 was 36.34%. There are four potential MARs in intron 51. Three of them are clustered in the 12 kb region near exon 51. Numerous ORFs were found on both strands, but no homologues proteins were found in Genbank CDS transcriptional peptide, PDB, SwissProt, PIR and PRF databases.</p><p><b>CONCLUSION</b>The expansion of intron 7 over the last 120 million years was mainly the result of L1 insertion into intron 7, and not all of repetitive sequences are associated with chromosomal rearrangement. No sequence of functional significance was found in intron 51. The results suggest that the cluster of MARs may be associated with the instability of intron 51.</p>
Subject(s)
Humans , Base Sequence , CpG Islands , Genetics , Databases, Nucleic Acid , Dystrophin , Genetics , Gene Deletion , Genes , Introns , Genetics , Long Interspersed Nucleotide Elements , Genetics , Mutagenesis, Insertional , Open Reading Frames , Promoter Regions, Genetic , Repetitive Sequences, Nucleic Acid , Genetics , Sequence Analysis, DNA , MethodsABSTRACT
AIM: To investigate the survival, migration and differentiation of human bone marrow mesenchymal stem cells (hMSC) in the middle cerebral artery occlusion (MACO) model and to observe the influence on motor function in the animal model. METHODS: hMSC with Hoeschst 33342 were injected into the animal model of MACO after Shenqiye induced for half an hour and their survival, migration, differentiation and the behavior changes in MACO rats were examined. RESULTS: hMSC had good homogeneousness and immunological reaction after implantation. The results showed that hMSC survived in rat brain for a long time over six weeks. As time going, hMSC were found in much more areas in the rat brain. Immunofluorescence staining suggested that implanted hMSC expressed human neuron specific enolase, neurofilament, and glial fibrillary acid protein. At the same time, improvements in abnormal behavior of MACO rats were observed. CONCLUSION: hMSC differentiate into neurons in the brain of rats, which means that hMSC is an ideal seed cells for the therapy of cerebral infarction.