BEST1

..reviewed the charts of seven patients (ages 36 to 68 years) with chronic cluster headache to identify who responded best to percutaneous stereotactic radiofrequency rhizotomy after medical treatment failed...

..The best results had been reported by Peters and Gianni; with a minimum follow-up of 5 years 65 and 56% of their patients ..

..Although all methods have some efficacy, it is not clear which methods, separate or combined, are best in the adolescent scoliosis population...

..This emphasises the importance of early diagnosis which is usually possible without resorting to invasive procedures and by modulating all the results of paraclinical investigations with respect to the pretest clinical probability...

To describe the clinical phenotype in a family with Best's vitelliform macular dystrophy (BMD) and a new mutation (Val89Ala) in the VMD2 gene.

Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium...

To analyze functional and clinical data of Best vitelliform macular dystrophy (VMD) patients with mutations in the BEST1 gene.

..The gene BEST1 (formerly VMD2) which encodes the protein bestrophin-1 (Best1) was first identified in 1998...

..the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium...

To describe morphological and functional changes in a single patient with multifocal Best vitelliform macular dystrophy (BVMD) and to perform a genotype/phenotype correlation.

b>Best vitelliform macular dystrophy (VMD2) is an autosomal dominant dystrophy with a juvenile age of onset. Mutations in the Bestrophin gene were shown in patients affected with VMD2...

b>Best disease, or vitelliform macular degeneration, is an autosomal dominant form of macular degeneration that is caused by mutations in the gene encoding bestrophin...

To characterize the phenotype of members of a Swedish family with Best macular dystrophy and two distinct mutations in VMD2.

..To describe the clinical and genetic findings in 15 patients with multifocal vitelliform lesions...

To perform a detailed morphologic and functional evaluation of Best macular dystrophy (BMD) associated with mutations in the VMD2 gene.

..To report 11 cases of autosomal recessive vitelliform macular dystrophy and to compare their molecular findings and phenotypic characteristics with those of patients with the more common and well-described dominant form of the disease...

..Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and ..

..b>Bestrophin 1 (Best1) has been proposed to form Ca(2+)-activated Cl(-) channels in epithelial cells...

..Longitudinal course and genotype-phenotype correlation in patients and carriers with heterozygous mutations in hBEST1 (bestrophin)...

The purpose of this study was to investigate the BEST1 gene mutations in Chinese patients with Best vitelliform macular dystrophy (BVMD).

To analyze retinal structure and function in vitelliform macular dystrophy (VMD) due to mutations in BEST1.

To describe genetic and clinical findings in a French family affected by best vitelliform macular dystrophy (BVMD).

b>Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal ..

To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD).

..Mutations in the bestrophin gene cause an autosomal form of macular dystrophy of the retina. Bestrophin 1 is assumed to form the basolateral Ca(2+)-activated Cl(-) channel in the retinal pigment epithelium of the eye...

Mutations in the human bestrophin 1 (hBest1) chloride channel cause Best vitelliform macular dystrophy...

..However, unlike two other alleles previously associated with Best disease, cotransfection with wild-type bestrophin-1 did not impair the formation of active wild-type bestrophin-1 ..

b>Best vitelliform macular dystrophy (BVMD, also called Best's disease) is a dominantly inherited, juvenile-onset form of macular degeneration, which is characterized by abnormal accumulation of yellow pigment in the outer retina and a ..

Bestrophin-1 (Best1) is a Cl(-) channel that is linked to various retinopathies in both humans and dogs...

..The VMD2 gene underlying Best disease was shown to represent the first human member of the RFP-TM protein family...

Vitelliform macular dystrophy (VMD/Best disease; MIM*153700) is an early-onset autosomal dominant disorder in which accumulation of lipofuscin-like material within and beneath the retinal pigment epithelium is associated with a ..

..Many of the approximately 100 disease-causing mutations in hBest1 are located in this region that we have implicated in Ca(2+) sensing, suggesting that these mutations disrupt hBest1 channel gating by Ca(2+)...

..Although the vitelliform lesion is common in the fundus of individuals with Best disease, diagnosis is based on a reduced ratio of the light peak to dark trough in the electrooculogram...

Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); ..

b>Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset...

b>Best's vitelliform macular dystrophy is an autosomal dominant disorder of unknown causes. To identify the underlying gene defect the disease locus has been mapped to an approximately 1.4-Mb region on chromosome 11q12-q13.1...

..These experiments provide the first structural analysis of the bestrophin channel family...

Mutations in human bestrophin-1 (VMD2) are genetically linked to a juvenile form of macular degeneration and autosomal dominant vitreoretinochoroidopathy...

Macular degeneration is the most common cause of legal blindness in older patients in developed countries. Best's vitelliform dystrophy is an early-onset, autosomal dominant form of macular degeneration characterized by an egg-yolk-like ..

..Here, we demonstrate molecular and functional expression of bestrophin-1 (BEST1) in mouse and human airways, colon, and kidney...

The vitelliform macular dystrophy type 2 (VMD2) gene mutated in Best macular dystrophy encodes a 585-amino acid putative transmembrane protein termed bestrophin-1...

..The data indicate that the presence of a functional bestrophin may contribute to the basolateral cell conductance in airway epithelial cells...

To describe the phenotype of Best vitelliform macular dystrophy (BVMD) and to evaluate genotype-phenotype and histopathologic correlations.

It has been proposed that Best vitelliform macular dystrophy (BVMD) is caused by dysfunction in the Cl(-) channel function of human bestrophin-1 (hBest1), but some patients with BVMD who have the hBest1 A243V mutation have normal electro-..

Mutations in the gene VMD2 are associated with autosomal dominant vitelliform macular dystrophy (Best disease)...

..To investigate the genetic basis of autosomal dominant vitreoretinochoroidopathy (ADVIRC), a rare, inherited retinal dystrophy that may be associated with defects of ocular development, including nanophthalmos...

Vitelliform macular dystrophy (Best's disease) is an autosomal dominant, early-onset form of macular degeneration in which the primary defect is thought to occur at the level of the retinal pigment epithelium...

The mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin-1 (hBest1) which is a Ca(2+)-sensitive chloride channel...

..Stepwise discriminating analysis was used to identify the best discriminating variables within the magnetic resonance image, work perception, and psychosocial categories in terms ..

..The best responses observed to date with two-drug combinations appear better on several scores than the best that have been ..

..01) and computer analysis showed that the [3H]-idazoxan binding data could be best fitted to a model which considers binding to two sites (P < 0.01)...

..A critical review of current measures for dyspnea reveals at best an only fair association between perceived dyspnea and physiological lung function, sharing not more than 30% of ..

..Follow-up related to 85 patients shows survival rate covered between 30 and 570 days (mean, 142). Best survival values occurred in patients who underwent "one step" technique...

..Measurements of bone mineral density (BMD) on the forearm were performed every second year...

..care system are needed and it must be improved, but does that justify totally changing a system providing the best care in the world for 200 million people? Or should we build on and improve that which is good and extend it to the ..

..The syndrome occurs worldwide but its prevalence seems to vary from country to country. The best-known sign of exfoliation syndrome is deposits of greyish-white material on the anterior lens surface...

..an interaction between clinical group effect and injection effect, and logistic regression analysis to select the best set of variables that would be predictive of minimum pain relief of 75% after the injection...

..The earliest possible oral anticancer ... pardon me I anticoagulant treatment should be prescribed and explained...

..A statistically significant survival benefit has been shown in trials comparing drug combinations with a best supportive care arm in the treatment of advanced gastric cancer. However, the number of included patients is small...

..Thus far, no tumor composed of MGSC entirely, to the best of the authors' knowledge, has been reported...

Though the principle may seem simple or fundamental it has been our experience that the best way to develop clinician-educators in an academic setting is to value their contributions...

..This part is carried out in an aerosol chamber with airborne spores (laboratory experiments). The best results are obtained with peracetic acid, hydrogen peroxide and formaldehyde are effective with some restrictions...

..Each country evolved the kind of analysis that suited it best, with a variety of institutions within the same international movement...

..In 62 percent of the cases studied, the injured person's initial best corrected visual acuity in the injured eye was the ability to perceive hand motion, or worse...

..Angiotensin II receptor blockers (ARB) selectively block the angiotensin II type 1 (AT1) receptor that not only mediates the known effects of angiotensin ..

..New Zealand white rabbits and five rhesus monkeys at necropsy and during nonsurvival surgeries to determine the best access routes and to develop special instruments for video-assisted lateral intertransverse process arthrodesis...

..A prospective study of psychological risk factors for first-time low back pain with repeated use of psychological questionnaires...

..at the level of the third cervical vertebra in the absence of hindbrain herniation are unusual and, to the best of the authors' knowledge, have not been described previously...

..Cyclical oral progestins were taken by those women with an intact uterus. Thirty-two women completed the study. BMD (DEXA) of total body, lumbar vertebrae (L1-L4) and hip area increased significantly in both treatment groups...

..Dietary calcium and energy intakes were assessed by a 3-day food record method, bone mineral density (BMD) was performed at ultradistal (ud) and proximal (pr) radial sites using dual energy X-ray absorptiometry...

..Rather, response amplitude corresponded best with the absolute difference between shoulder and head motion...

..angiography is the only investigation which allows assessment of the coronary circulation and is probably the best method of evaluating global and regional left ventricular function, two essential prognostic factors: on the other ..

..By the end of this time, the best survival rate (86 percent) was with the multivisceral procedure...

..However, the best agreement between the results for clinical isolates was seen with 5-FC (100% agreement [Within +/- 2 log2 dilutions]..

..Instrumentation without fusion was used in three patients for a mean of 3 years, with best results in one nonkyphotic curve. Nine patients underwent instrumented fusion at a mean age of 6...

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..Bone mineral content (BMC), bone mineral density (BMD) and BMC adjusted for bone area, body weight and height (size-adjusted BMC) were measured for the whole-body, ..

..in mesenteric arterial bed preparations from spontaneously diabetic, insulin-dependent and treated BB rats, the best animal model of insulin-dependent mellitus (IDDM) currently available...

..most common site of primary extranodal non-Hodgkin's lymphoma (NHL) and no agreement has been reached so far on the best therapeutic approach...

..in travel medicine or related areas, interest in undertaking training in travel medicine and how training might be best delivered...

..prostaglandin E1 have considerably reduced the immediate mortality by enabling surgery to be undertaken under the best possible haemodynamic conditions...

..Several chemotherapy regimens containing four to eight drugs are effective in HD. The best regimen considering both antitumour activity and acute and late side-effects is not known...

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..The best known of these, the Framingham study, showed that an increased heart rate was associated with an increased ..

..The proliferation of the bone marrow fibroblasts is not clonal in origin. To the best of this author's knowledge, this type of myelofibrosis has not been reported to occur naturally in the dog...

..With most methods best results were achieved by using cultures incubated at 37 degrees C for 6 h...

..When chemotherapy was compared to best supportive care (BSC), the results demonstrated a survival gain...

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Twenty five percent of children with epilepsy continue to seize despite best medical management and may be defined as medically refractory. Many children with medically refractory localization-related epilepsy, i.e...

The generalist health care workforce in the United States is best characterized as those practitioners who deliver primary care services...

..Finally, significant progress has been made in the field of genetics of cardiac arrhythmias, indicating that, in years to come, it will be possible to identify most of the genes responsible for conditions predisposing to arrhythmias...

..plasminogen activator, association of the two thrombolytics) for acute myocardial infarction to determine the best time to perform percutaneous transluminal coronary angioplasty (PTCA)...

..It is uncertain which method is the best in terms of safety and effectiveness.

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..This is a randomized comparison of three exercise tests in a sample of 30 patients with chronic low back pain...

..0 A (ampere) or above were found to yield the best results for the detection of PSP compounds. Increasing the detector current level to as high as 3...

..hypotheses experimentally, we measured whole body and regional bone mineral content (BMC) and bone mineral density (BMD), using dual-energy X-ray absorptiometry and single-photon absorptiometry, and bone turnover at 8-12 years in 244 ..

..Factor analysis suggested that oral disadvantage is best described as three factors: disadvantage due to (1) oral disease/tissue damage, (2) oral pain, and (3) oral ..

..Such patients would best benefit from postoperative radiotherapy following modified radical mastectomy and axillary lymph node dissection...

..in 11-22%, and moderate-important with functional improvement in 40-78% of patients, being patient's evaluation the best and physiotherapist's one the worst. Spasticity improved 2 or more grades in Ashworth scale in 7/9 cases...

..CaAb), secondary hyperparathyroidism (HPT), increased bone resorption and decreased bone mineral density (BMD) [3]. Thus, experts agree that patients with vitamin D deficiency should receive vitamin D therapy [4-7]...

..Recent studies document that bone mineral density (BMD) is inversely correlated with severity of aortic and coronary artery calcification, markers of atherosclerosis...

..The currently much-used method of monitoring bone mineral density (BMD) is neither sensitive to small changes in bone density, nor suitable for frequent assesments of bone density...

..Due to limitations in areal BMD measures obtained from 2D DXA scans - which is the current clinical standard for diagnosis of osteoporosis - it has ..

..The ongoing parent study is longitudinal, comparing changes in bone mineral density (BMD) every 3 months for 24 months between women newly initiating DMPA for contraception and women using no hormonal ..

..Average measures of bone mineral density (BMD) explain only 50-70% of the variance in vertebral strength, a result that is not surprising given the heterogeneous ..

..Recent research in adults has suggested a negative effect of DMPA on bone mineral density (BMD)...

..Three examinations have yielded a comprehensive set of measurements that include bone mineral density (BMD), neuromuscular function, functional status, and other risk factors for fractures; follow-up over 2...

..Three examinations have yielded a comprehensive set of measurements that include bone mineral density (BMD), neuromuscular function, functional status, and other risk factors for fractures; follow-up over 2...

..and determine cellular actions of genes on mouse Chromosomes (Chr) 1 and 4 that regulate bone mineral density (BMD)...

..and determine cellular actions of genes on mouse Chromosomes (Chr) 1 and 4 that regulate bone mineral density (BMD)...

..loss, however, is not well understood and no treatment has so far proven effective in treating low bone density (BMD) in adolescents with AN...

..While reduced bone mineral density (BMD) relative to young individuals is routinely used clinically to predict fracture risk, BMD is not a strong predictor,..

..of teriparatide given cyclically (8 three month cycles) over 4 years with teriparatide given daily for 2 years on BMD of the spine and hip by DXA and QCT and BMD and microstructure of the radius and tibia assessed by high resolution ..

..Male Osteoporosis Osteoporosis is a major public health problem, mainly characterized by low bone mineral density (BMD). Variation of BMD is largely genetically determined (heritability of > 60%)...

..Male Osteoporosis Osteoporosis is a major public health problem, mainly characterized by low bone mineral density (BMD). Variation of BMD is largely genetically determined (heritability of >60%)...

Osteoporosis is a major public health problem mainly characterized by low bone mineral density (BMD). BMD has a heritability >60%...

Osteoporosis is a major public health problem mainly characterized by low bone mineral density (BMD). BMD has a heritability > 60%...

..bone mass as measured by DEXA, including bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) in relation to a wide range of putative precursors of osteoporosis...

..bone mass as measured by DEXA, including bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) in relation to a wide range of putative precursors of osteoporosis...

..bone mass as measured by DEXA, including bone mineral content (BMC), bone area (BA) and bone mineral density (BMD) in relation to a wide range of putative precursors of osteoporosis...

..Using peripheral DXA (pDXA) technology to measure proximal radial BMD, a strong predictor for osteoporosis, this proposed investigation will screen 15,000 sib pairs aged 40-64 years in ..

..to continue our Tobago Bone Health Study (R01-AR049747), a unique population-based study of bone mineral density (BMD) in 2,424 black men aged e40 years...

..The third objective is to measure shorter term changes in bone mineral density (BMD) of the hip and radius (assessed by single photon absorptiometry and dual energy X-ray absorptiometry) among very ..

..TNAP sufficiently high to be able to lower circulating PPi and OPN concentrations to enhance bone mineral density (BMD) in these animals...

..Teriparatide (TPTD), the aminoterminal fragment of parathyroid hormone, increases BMD and bone strength and reduces fracture incidence throughout the skeleton, but data confirming specific efficacy ..

..both calcium malabsorption and vitamin B12 deficiency are associated with reduced bone mineral density (BMD) and increased osteoporotic fracture risk...

..both calcium malabsorption and vitamin B12 deficiency are associated with reduced bone mineral density (BMD) and increased osteoporotic fracture risk...

..Bone marrow-derived endothelial progenitor cells (BMD EPC) contribute to wound healing since these progenitor/stem cells are the key cellular effectors of post-natal ..

..Bone marrow-derived endothelial progenitor cells (BMD EPC) contribute to wound healing since these progenitor/stem cells are the key cellular effectors of post-natal ..

..Human studies have demonstrated a relatively strong correlation between serum IGF-I and bone mineral density (BMD)...

..Human studies have demonstrated a relatively strong correlation between serum IGF-I and bone mineral density (BMD)...

..A new diagnostic technique of measuring bone mineral density (BMD) for diagnosis and monitoring the course of treatment (assessment) of osteoporosis and other bone diseases is ..

..evaluation of three major hypotheses: (1) Lead exposure is associated with declines in bone mineral density (BMD) and increases in bone turnover (defined by serum osteocalcin and urinary cross-linked N telopeptide of type I ..

..We have previously reported the effects of hypogonadism and sex steroid replacement on bone mineral density (BMD) in GnRH-deficient men, men with histories of delayed puberty, and men with adult-onset hypogonadism...