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11.
Matte U Yogalingam G Brooks D Leistner S Schwartz I Lima L Norato DY Brum JM Beesley C Winchester B Giugliani R Hopwood JJ 《Molecular genetics and metabolism》2003,78(1):37-43
In this study we have investigated a group of 29 Brazilian patients, who had been diagnosed with the lysosomal storage disorder, Mucopolysaccharidosis type I (MPS-I). MPS I is caused by a deficiency in the lysosomal hydrolase, alpha-L-iduronidase. Ninety percent of the MPS I patients in this study were genotyped and revealed 10 recurrent and thirteen novel IDUA gene mutations. Eight of these new mutations and three common mutations W402X, P533R, and R383H were individually expressed in CHO-K1 cells and analyzed for alpha-L-iduronidase protein and enzyme activity. A correlation was observed between the MPS I patient clinical phenotype and the associated mutant alpha-L-iduronidase protein/enzyme activity expressed in CHO-K1 cells. This was the first time that Brazilian MPS I patients had been thoroughly analyzed and highlighted the difficulties of mutation screening and clinical phenotype assessment in populations with high numbers of unique mutations. 相似文献
12.
Steiner CE Torriani M Norato DY Marques-de-Faria AP 《American journal of medical genetics》2000,91(2):131-134
We report on three sibs presenting with spondylocarpotarsal synostosis, short-trunk dwarfism of postnatal onset, scoliosis, unsegmented thoracic vertebrae with unilateral bar, and carpal bone fusion. Tarsal bone fusion and dental abnormalities were noted in some of them, indicating pleiotropy and intrafamilial variability. Lens opacities, rarefaction of retinal pigmentation, and narrowing of retinal vessels, detected in two patients, are findings that have not been described to date in this condition. 相似文献
13.
14.
Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group 总被引:5,自引:0,他引:5
Haines JL; Terwedow HA; Burgess K; Pericak-Vance MA; Rimmler JB; Martin ER; Oksenberg JR; Lincoln R; Zhang DY; Banatao DR; Gatto N; Goodkin DE; Hauser SL 《Human molecular genetics》1998,7(8):1229-1234
Multiple sclerosis (MS) is a demyelinating autoimmune disease of the
central nervous system. While its etiology is not well understood, genetic
factors are clearly involved. Until recently, most genetic studies in MS
have been association studies using the case-control design testing
specific candidate genes and studying only sporadic cases. The only
consistently replicated finding has been an association with the HLA-DR2
allele within the major histocompatibility complex (MHC) on chromosome 6.
Using the genetic linkage design, however, evidence for and against linkage
of the MHC to MS has been found, fostering suggestions that sporadic and
familial MS have different etiologies. Most recently, two of four genomic
screens demonstrated linkage to the MHC, although specific allelic
associations were not tested. Here, a dataset of 98 multiplex families was
studied to test for an association to the HLA-DR2 allele in familial MS and
to determine if genetic linkage to the MHC was due solely to such an
association. Three highly polymorphic markers (HLA-DR, D6S273 and TNFbeta)
in the MHC demonstrated strong genetic linkage (parametric lod scores of
4.60, 2.20 and 1.24, respectively) and a specific association with the
HLA-DR2 allele was confirmed (TDT; P < 0.001). Stratifying the results
by HLA-DR2 status showed that the linkage results were limited to families
segregating HLA-DR2 alleles. These results demonstrate that genetic linkage
to the MHC can be explained by the HLA-DR2 allelic association. They also
indicate that sporadic and familial MS share a common genetic
susceptibility. In addition, preliminary calculations suggest that the MHC
explains between 17 and 62% of the genetic etiology of MS. This
heterogeneity is also supported by the minority of families showing no
linkage or association with loci within the MHC.
相似文献
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16.
CLAUDIA HERRERA SIKLÓDY M.D. JAN MINNERS M.D. Ph.D. MARTIN ALLGEIER M.D. HANS‐JÜRGEN ALLGEIER M.D. NIKOLAUS JANDER M.D. CORNELIUS KEYL M.D. REINHOLD WEBER M.D. JOCHEN SCHIEBELING‐RÖMER M.D. DIETRICH KALUSCHE M.D. THOMAS ARENTZ M.D. 《Journal of cardiovascular electrophysiology》2010,21(2):120-125
Pressure‐Guided Cryoballoon Pulmonary Vein Isolation. Background: Pulmonary vein (PV) isolation using a balloon‐mounted cryoablation system is a new technology for the percutaneous treatment of atrial fibrillation (AF). Complete PV occlusion during balloon ablation has been shown to predict successful electrical isolation. The aim of this study was to correlate mechanical PV occlusion with changes in a pressure curve recorded at the distal tip of the cryoballoon catheter. Methods and Results: We analyzed 51 PVs in 12 patients (61 ± 6 years old) with paroxysmal AF. At first, PV occlusion via the cryoballoon was documented by changes in the pressure curve. Once the PV is occluded, the pressure curve registered in the vein converts from a left atrial pressure curve to a pulmonary artery pressure curve: the PV wedge curve. Occlusion was then confirmed by transesophageal echocardiography (TEE). Following 2 cryoablation applications, electrical PV isolation was assessed with a circumferential mapping catheter. Under the exclusive guidance of changes in the pressure curve at the tip of the cryoballoon, mechanical occlusion confirmed by TEE was achieved in 47 of 51 PVs (92%). Three PVs required further TEE guidance to achieve occlusion. All 50 occluded veins were electrically isolated after cryoablation. One right inferior vein, which could not be occluded with the balloon, displayed conduction post cryoablation and was isolated by focal ablation. Conclusions: Occlusion and electrical isolation of PVs during cryoballoon ablation can be predicted by the appearance of a PV wedge curve at the tip of the catheter. This new straightforward parameter may facilitate the procedure. (J Cardiovasc Electrophysiol, Vol. 21, pp. 120‐125, February 2010) 相似文献
17.
DY Hui MJ Cope ED Labonté H-T Chang J Shao E Goka A Abousalham D Charmot J Buysse 《British journal of pharmacology》2009,157(7):1263-1269
Background and purpose:
Previous results have shown that mice lacking in the group 1B phospholipase A2 (Pla2g1b) are resistant to obesity and diabetes induced by feeding a diabetogenic high-fat/high-carbohydrate diet. This study examined the potential of using the Pla2g1b inhibitor methyl indoxam as therapy to suppress diet-induced obesity and diabetes.Experimental approach:
Male C57BL/6 mice were fed the diabetogenic diet with or without methyl indoxam supplementation. Body weight gain, fasting plasma glucose levels, glucose tolerance and postprandial lysophospholipid absorption were compared.Key results:
Wild-type C57BL/6 mice fed the diabetogenic diet without Pla2g1b inhibitor showed 31 and 69% body weight gain after 4 and 10 weeks respectively. These animals also showed elevated plasma glucose levels and were glucose intolerant. In contrast, C57BL/6 mice fed the diabetogenic diet with 90 mg·kg−1 of methyl indoxam gained only 5% body weight after 10 weeks. These animals were also euglycaemic and displayed normal glucose excursion rates in glucose tolerance test. Methyl indoxam suppression of diet-induced body weight gain and glucose intolerance was correlated with the inhibition of Pla2g1b-mediated postprandial lysophospholipid absorption.Conclusions and implications:
These results show that oral supplementation of a diabetogenic diet with the Pla2g1b inhibitor methyl indoxam effectively suppresses diet-induced obesity and diabetes in mice. This suggests that Pla2g1b inhibition may be a potentially effective oral therapeutic option for treatment of obesity and diabetes. 相似文献18.
ROCHELLE E HAAS HEIDI H KECSKEMETHY MARIA A LOPICCOLO JOBAYER HOSSAIN ROCHELLE T DY STEVEN J BACHRACH 《Developmental medicine and child neurology》2012,54(12):1133-1137
Aim To assess lower extremity bone mineral density (BMD) of children with congenital spinal dysfunction and examine factors that may influence BMD in this population. Method Forty‐four children (25 females, 19 males) aged 6 to 18 years (mean 11y 11mo, SD 3y 6mo) with congenital spinal dysfunction (35 with myelomeningocele, seven with lipomas, one with sacral agenesis, one with caudal regression) were enrolled in the study. A health survey including ambulatory status, history of bladder augmentation, and history of fracture was administered. Each participant had a physical examination including Tanner stage and neurological level. Dual‐energy X‐ray absorptiometry scans of the lateral distal femur (LDF) and, when possible, lumbar spine were obtained. We reported LDF BMD results as z‐scores for three regions of interest (metaphyseal, metadiaphyseal, and diaphyseal). Univariable and multivariable analyses examined relationships between LDF BMD and the other variables. Results BMD was significantly related to ambulatory status (14 non‐ambulatory, 15 partly ambulatory, 15 fully ambulatory) and neurological level (13 with low‐level lesions, 15 medium‐level, 16 high‐level) in the univariable analysis (p<0.01 for both in all three regions). Neither history of fracture, nor Tanner stage, nor history of bladder augmentation showed a significant relationship to BMD. The significance of ambulatory status and neurological level in the univariable analysis failed to persist in the multivariable analysis of this study with a small sample size. Interpretation The LDF measurement proved to be a viable technique for assessing BMD in children with congenital spinal dysfunction. LDF BMD was sensitive to differences in three categories of ambulation. The overall influence of neurological level was not deemed as important as ambulation. 相似文献
19.
目的:已有实验研究证明,移植骨髓来源内皮祖细胞可以促进球囊损伤后血管内皮的修复及抑制内膜的增生.那么移植骨髓来源内皮祖细胞对自体静脉移植术后静脉血管内皮修复和内膜增生是否起同样的作用?观察自体骨髓来源内皮祖细胞移植对自体静脉移植术后静脉桥血管再内皮化及内膜增生的作用。方法:实验于2007-01/08在北华大学附属医院内科实验室完成。实验室级别:P2级。①实验材料:6~8月龄雄性新西兰大白兔由解放军第二军医大学实验动物中心提供.体质量(2.5±0.5)kg,清洁级,实验过程中对动物处置符合动物伦理学标准。②实验方法:抽取成年兔骨髓分离制备骨髓单个核细胞,体外扩增法培养出骨髓来源内皮祖细胞.在培养第7天通过Ac-Dil-LDL、FITC-BS-1双染色及流式细胞仪检测CD34、CD133、FIK-1表达进行细胞鉴定,应用DAPI荧光染料体外标记培养7 d的骨髓来源内皮祖细胞、将成年新西兰大白兔23只随机分为细胞移植组(n=13)和对照组(n=10)进行自体左颈外静脉、颈总动脉移植术,在建模后第3天将DAPI标记的骨髓来源内皮祖细胞悬液经耳缘静脉植入细胞移植组动物体内,埘照组植入等量的PBS液③实验评估:细胞移植后4周.观察兔静脉移植段血管性及内膜厚度。结果:23只免均进入结果分析,无脱落:①通过体外扩增法培养的骨髓来源内皮组细胞,培养至7 d可见AC-Dil-LDI及FITC-BS-1双染色阳性细胞并表达CD34、CD133及FIK-1。②在呈绿荧光染色的血管内皮中可见有部分不均匀的散发蓝色荧光(DAPI标记细胞的细胞核)。③细胞移植组兔静脉血管内皮有DAPI标记的细胞.且内膜厚度明显低于对照组(P<0.05)结论:自体骨髓来源的内皮祖细胞移植可以促进损伤部位血管内皮的修复.并抑制内膜的过度增生。 相似文献
20.
Laure Le Goff Katherine G. Meilleur Gina Norato Pascal Rippert Minal Jain Margaret Fink A. Reghan Foley Melissa Waite Sandra Donkervoort Carsten G. Bönnemann Carole Vuillerot 《Archives of physical medicine and rehabilitation》2021,102(4):604-610
ObjectivesTo investigate the responsiveness of the motor function measure (MFM) and determine the minimal clinically important difference (MCID) in individuals with 2 common types of congenital muscular dystrophy (CMD).DesignObservational, prospective, single center, cohort study.SettingNational Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH).ParticipantsIndividuals (N=44) with collagen VI-related dystrophies (COL6-RD, n=23) and 21 individuals laminin alpha2-related muscular dystrophy (LAMA2-RD, n=21) enrolled in a 4-year longitudinal natural history study.InterventionsNot applicable.Main Outcome MeasuresResponsiveness of the MFM-32 and the Rasch-scaled MFM-25 and the MCID of the MFM-32 determined from a patient-reported anchor with 2 different methods, within-patient and between-patient.ResultsThe original MFM-32 and Rasch-scaled MFM-25 performed similarly overall in both the COL6-RD and LAMA2-RD populations, with all subscores (D1, standing and transfers; D2, axial and proximal; D3, distal) showing a significant decrease over time, except MFM D1 and D3 for LAMA2-RD. The MFM D1 subscore was the most sensitive to change for ambulant individuals, whereas the MFM D2 subscore was the most sensitive to change for nonambulant individuals. The MCID for the MFM-32 total score was calculated as 2.5 and 3.9 percentage points according to 2 different methods.ConclusionsThe MFM showed strong responsiveness in individuals with LAMA2-RD and COL6-RD. Because a floor effect was identified more prominently with the Rasch-Scaled MFM-25, the use of the original MFM-32 as a quantitative variable with the assumption of scale linearity appears to be a good compromise. When designing clinical trials in congenital muscular dystrophies, the use of MCID for MFM should be considered to determine if a given intervention effects show not only a statistically significant change but also a clinically meaningful change. 相似文献