The Experts below are selected from a list of 360 Experts worldwide ranked by ideXlab platform
Steven Z Glickel - One of the best experts on this subject based on the ideXlab platform.
-
long term results of volar ligament reconstruction for symptomatic basal joint laxity
Journal of Hand Surgery (European Volume), 2000Co-Authors: Douglas M Freedman, Richard G Eaton, Steven Z GlickelAbstract:It has been hypothesized that instability of the thumb trapeziometacarpal joint is a major factor in the etiology of degenerative disease. Theoretically, surgically stabilized joints should be subject to less shear force and, hence, will be less likely to develop degenerative changes. The long-term results of volar ligament reconstruction were assessed in 19 patients (24 thumbs). The average age at surgery was 33 years (range, 18-55 years). Twenty-three thumbs were radiographic stage I; a preoperative x-ray was not available in 1. The follow-up period averaged 15 years (range, 10-23 years). At the final follow-up visit 15 thumbs were stage I, 7 were stage II, and 2 were stage III. Fifteen patients were at least 90% satisfied with the results of the surgery. Only 8% of thumbs advanced to radiographic arthritic disease, which compares favorably with the 17% to 33% reported incidence of stage III/IV basal joint arthritis in the general population.
-
long term results of volar ligament reconstruction for symptomatic basal joint laxity
Journal of Hand Surgery (European Volume), 2000Co-Authors: Douglas M Freedman, Richard G Eaton, Steven Z GlickelAbstract:Abstract It has been hypothesized that instability of the thumb trapeziometacarpal joint is a major factor in the etiology of degenerative disease. Theoretically, surgically stabilized joints should be subject to less shear force and, hence, will be less likely to develop degenerative changes. The long-term results of volar ligament reconstruction were assessed in 19 patients (24 thumbs). The average age at surgery was 33 years (range, 18–55 years). Twenty-three thumbs were radiographic stage I; a preoperative x-ray was not available in 1. The follow-up period averaged 15 years (range, 10–23 years). At the final follow-up visit 15 thumbs were stage I, 7 were stage II, and 2 were stage III. Fifteen patients were at least 90% satisfied with the results of the surgery. Only 8% of thumbs advanced to radiographic arthritic disease, which compares favorably with the 17% to 33% reported incidence of stage III/IV basal joint arthritis in the general population. (J Hand Surg 2000;25A:297–304. Copyright © 2000 by the American Society for Surgery of the Hand.)
Elena Domínguez-garrido - One of the best experts on this subject based on the ideXlab platform.
-
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
BMC Medical Genetics, 2018Co-Authors: María López, Alberto García-oguiza, Judith Armstrong, Inmaculada García-cobaleda, Sixto García-miñaur, Fernando Santos-simarro, Verónica Seidel, Elena Domínguez-garridoAbstract:Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS- EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Methods Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Results Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi , and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). Conclusions The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300 -RSTS phenotype may contribute to improve the management of patients and the counselling to the families.
-
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
BMC medical genetics, 2018Co-Authors: María López, Alberto García-oguiza, Judith Armstrong, Inmaculada García-cobaleda, Sixto García-miñaur, Fernando Santos-simarro, Verónica Seidel, Elena Domínguez-garridoAbstract:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi, and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families.
Christopher S. Evans - One of the best experts on this subject based on the ideXlab platform.
-
Insular tammar wallabies (Macropus eugenii) respond to visual but not acoustic cues from predators
Behavioral Ecology, 2000Co-Authors: Daniel T. Blumstein, Janice C. Daniel, Andrea S. Griffin, Christopher S. EvansAbstract:We studied the way in which a population of tammar wallabies (Macropus eugenii), which have been isolated from mammalian predators since the last ice age, responded to the sight and sound of historical and ontogenetically and evolutionarily novel predators. Tammars were shown a range of visual stimuli, including taxidermic mounts of two evolutionarily novel predators, a red fox (Vulpes vulpes) and a cat (Felis catus), and a model of an extinct predator, the thylacine (Thylacinus cynocephalus). Controls were a conspecific, the cart on which all mounts were presented, and blank trials in which spontaneous change in behavior was measured. We played back recorded sounds to characterize responses to acoustic cues from predators and to a putative conspecific antipredator signal. Treatments included the howls of dingoes (Canis lupus dingo), an evolutionarily novel predator; calls of a wedge-tailed eagle (Aquila audax), a historical and current predator; and wallaby foot Thumps. Controls were the song of an Australian magpie (Gymnorhina tibicen) and a blank trial. After seeing a fox, wallabies thumped their hind feet in alarm, suppressed foraging, and increased looking. The sight of a cat similarly suppressed foraging and increased looking. The sounds of predators did not influence responsiveness, but wallabies foraged less and looked more after thump playbacks. Our results suggest that tammars respond to the sight, but not the sounds, of predators. In contrast, the response to foot Thumps demonstrates that this particular sound functions as an antipredator signal. We suggest that responsiveness to visual cues has been preserved under relaxed selection because predator morphology is convergent, but vocalizations are not. Key words: antipredator behavior, Macropus eugenii, predator recognition, relaxed selection, tammar wallaby. [Behav Ecol 11:528–535 (2000)]
Douglas M Freedman - One of the best experts on this subject based on the ideXlab platform.
-
long term results of volar ligament reconstruction for symptomatic basal joint laxity
Journal of Hand Surgery (European Volume), 2000Co-Authors: Douglas M Freedman, Richard G Eaton, Steven Z GlickelAbstract:It has been hypothesized that instability of the thumb trapeziometacarpal joint is a major factor in the etiology of degenerative disease. Theoretically, surgically stabilized joints should be subject to less shear force and, hence, will be less likely to develop degenerative changes. The long-term results of volar ligament reconstruction were assessed in 19 patients (24 thumbs). The average age at surgery was 33 years (range, 18-55 years). Twenty-three thumbs were radiographic stage I; a preoperative x-ray was not available in 1. The follow-up period averaged 15 years (range, 10-23 years). At the final follow-up visit 15 thumbs were stage I, 7 were stage II, and 2 were stage III. Fifteen patients were at least 90% satisfied with the results of the surgery. Only 8% of thumbs advanced to radiographic arthritic disease, which compares favorably with the 17% to 33% reported incidence of stage III/IV basal joint arthritis in the general population.
-
long term results of volar ligament reconstruction for symptomatic basal joint laxity
Journal of Hand Surgery (European Volume), 2000Co-Authors: Douglas M Freedman, Richard G Eaton, Steven Z GlickelAbstract:Abstract It has been hypothesized that instability of the thumb trapeziometacarpal joint is a major factor in the etiology of degenerative disease. Theoretically, surgically stabilized joints should be subject to less shear force and, hence, will be less likely to develop degenerative changes. The long-term results of volar ligament reconstruction were assessed in 19 patients (24 thumbs). The average age at surgery was 33 years (range, 18–55 years). Twenty-three thumbs were radiographic stage I; a preoperative x-ray was not available in 1. The follow-up period averaged 15 years (range, 10–23 years). At the final follow-up visit 15 thumbs were stage I, 7 were stage II, and 2 were stage III. Fifteen patients were at least 90% satisfied with the results of the surgery. Only 8% of thumbs advanced to radiographic arthritic disease, which compares favorably with the 17% to 33% reported incidence of stage III/IV basal joint arthritis in the general population. (J Hand Surg 2000;25A:297–304. Copyright © 2000 by the American Society for Surgery of the Hand.)
María López - One of the best experts on this subject based on the ideXlab platform.
-
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
BMC Medical Genetics, 2018Co-Authors: María López, Alberto García-oguiza, Judith Armstrong, Inmaculada García-cobaleda, Sixto García-miñaur, Fernando Santos-simarro, Verónica Seidel, Elena Domínguez-garridoAbstract:Background Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS- EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Methods Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Results Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi , and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). Conclusions The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300 -RSTS phenotype may contribute to improve the management of patients and the counselling to the families.
-
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum
BMC medical genetics, 2018Co-Authors: María López, Alberto García-oguiza, Judith Armstrong, Inmaculada García-cobaleda, Sixto García-miñaur, Fernando Santos-simarro, Verónica Seidel, Elena Domínguez-garridoAbstract:Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant neurodevelopmental disorder characterized by broad thumbs and halluces. RSTS is caused by mutations in CREBBP and in EP300 genes in 50–60% and 8%, respectively. Up to now, 76 RSTS-EP300 patients have been described. We present the clinical and molecular characterization of a cohort of RSTS patients carrying EP300 mutations. Patients were selected from a cohort of 72 individuals suspected of RSTS after being negative in CREBBP study. MLPA and panel-based NGS EP300 were performed. Eight patients were found to carry EP300 mutations. Phenotypic characteristics included: intellectual disability (generally mild), postnatal growth retardation, infant feeding problems, psychomotor and language delay and typical facial dysmorphisms (microcephaly, downslanting palpebral fissures, columella below the alae nasi, and prominent nose). Broad thumbs and/or halluces were common, but angulated thumbs were only found in two patients. We identified across the gene novel mutations, including large deletion, frameshift mutations, nonsense, missense and splicing alterations, confirming de novo origin in all but one (the mother, possibly underdiagnosed, has short and broad thumbs and had learning difficulties). The clinical evaluation of our patients corroborates that clinical features in EP300 are less marked than in CREBBP patients although it is difficult to establish a genotype-phenotype correlation although. It is remarkable that these findings are observed in a RSTS-diagnosed cohort; some patients harbouring EP300 mutations could present a different phenotype. Broadening the knowledge about EP300-RSTS phenotype may contribute to improve the management of patients and the counselling to the families.