Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental d...Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular etiologies. Most cases of 3q duplication appear to be the result of an unbalanced translocation or inversion and therefore accompanied by additional cytogenetic anomalies. Consequently, pure duplications of 3q are very rare;we are aware of only 12 such cases that have been reported previously. Here, we present a new case of pure, partial 3q duplication in a 3-month-old female who displayed a number of clinical signs consistent with previously reported phenotypes and the additional novel finding of a vascular ring.展开更多
The current financial turmoil in the United States has been attributed to multiple reasons including healthcare expenditure.Health care spending has increased from 5.7 percent of the gross domestic product(GDP) in 196...The current financial turmoil in the United States has been attributed to multiple reasons including healthcare expenditure.Health care spending has increased from 5.7 percent of the gross domestic product(GDP) in 1965 to 16 percent of the GDP in 2004.Healthcare is driven with a goal to provide best possible care available at that period of time.Guidelines are generally assumed to have the high level of certainty and security as conclusions generated by the conventional scientific method leading many clinicians to use guidelines as the final arbiters of care.To provide the standard of care,physicians follow guidelines,proposed by either groups of physicians or various medical societies or government organizations like National Comprehensive Cancer Network.This has lead to multiple tests for the patient and has not survived the test of time.This independence leads to lacunae in the standardization of guidelines,hence flooding of literature with multiple guidelines and confusion to patients and physicians and eventually overtreatment,inefficiency,and patient inconvenience.There is an urgent need to restrict articles with Guidelines and develop some strategy like have an intermediate stage of pre-guidelines and after 5-10 years of trials,a systematic launch of the Guidelines.There can be better ways than this for putting together guidelines as has been suggested by multiple authors and researchers.展开更多
Gene expression profiling of new or modified cell lines becomes routine today;however,obtaining comprehensive molecular characterization and cellular responses for a variety of cell lines,including those derived from ...Gene expression profiling of new or modified cell lines becomes routine today;however,obtaining comprehensive molecular characterization and cellular responses for a variety of cell lines,including those derived from underrepresented groups,is not trivial when resources are minimal.Using gene expression to predict other measurements has been actively explored;however,systematic investigation of its predictive power in various measurements has not been well studied.Here,we evaluated commonly used machine learning methods and presented TransCell,a two-step deep transfer learning framework that utilized the knowledge derived from pan-cancer tumor samples to predict molecular features and responses.Among these models,TransCell had the best performance in predicting metabolite,gene effect score(or genetic dependency),and drug sensitivity,and had comparable performance in predicting mutation,copy number variation,and protein expression.Notably,TransCell improved the performance by over 50%in drug sensitivity prediction and achieved a correlation of 0.7 in gene effect score prediction.Furthermore,predicted drug sensitivities revealed potential repurposing candidates for new 100 pediatric cancer cell lines,and predicted gene effect scores reflected BRAF resistance in melanoma cell lines.Together,we investigated the predictive power of gene expression in six molecular measurement types and developed a web portal(http://apps.octad.org/transcell/)that enables the prediction of 352,000 genomic and cellular response features solely from gene expression profiles.展开更多
Hypertrophic cardiomyopathy (HCM), the most common single-gene cardiovascular disease, is associated with increased risk for arrhythmias, heart failure, and sudden cardiac death. The hemodynamic changes known to occur...Hypertrophic cardiomyopathy (HCM), the most common single-gene cardiovascular disease, is associated with increased risk for arrhythmias, heart failure, and sudden cardiac death. The hemodynamic changes known to occur during pregnancy can exacerbate heart failure and arrhythmias in women with HCM. We present a 30-year-old woman with HCM to illustrate the benefits of multidisciplinary team management of severe left ventricular outflow tract obstruction (peak gradient >100 mmHg) for optimal maternal and fetal outcomes.展开更多
文摘Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digital anomalies, genitourinary and cardiac defects as well as growth retardation and developmental delays. While there is clinical overlap with the unrelated Cornelia de Lange syndrome (CDLS), there are distinguishing features and molecular etiologies. Most cases of 3q duplication appear to be the result of an unbalanced translocation or inversion and therefore accompanied by additional cytogenetic anomalies. Consequently, pure duplications of 3q are very rare;we are aware of only 12 such cases that have been reported previously. Here, we present a new case of pure, partial 3q duplication in a 3-month-old female who displayed a number of clinical signs consistent with previously reported phenotypes and the additional novel finding of a vascular ring.
文摘The current financial turmoil in the United States has been attributed to multiple reasons including healthcare expenditure.Health care spending has increased from 5.7 percent of the gross domestic product(GDP) in 1965 to 16 percent of the GDP in 2004.Healthcare is driven with a goal to provide best possible care available at that period of time.Guidelines are generally assumed to have the high level of certainty and security as conclusions generated by the conventional scientific method leading many clinicians to use guidelines as the final arbiters of care.To provide the standard of care,physicians follow guidelines,proposed by either groups of physicians or various medical societies or government organizations like National Comprehensive Cancer Network.This has lead to multiple tests for the patient and has not survived the test of time.This independence leads to lacunae in the standardization of guidelines,hence flooding of literature with multiple guidelines and confusion to patients and physicians and eventually overtreatment,inefficiency,and patient inconvenience.There is an urgent need to restrict articles with Guidelines and develop some strategy like have an intermediate stage of pre-guidelines and after 5-10 years of trials,a systematic launch of the Guidelines.There can be better ways than this for putting together guidelines as has been suggested by multiple authors and researchers.
基金supported by the National Institute of Health(Grant Nos.R01GM134307 and K01 ES028047)the MSU Global Impact Initiative,USA.
文摘Gene expression profiling of new or modified cell lines becomes routine today;however,obtaining comprehensive molecular characterization and cellular responses for a variety of cell lines,including those derived from underrepresented groups,is not trivial when resources are minimal.Using gene expression to predict other measurements has been actively explored;however,systematic investigation of its predictive power in various measurements has not been well studied.Here,we evaluated commonly used machine learning methods and presented TransCell,a two-step deep transfer learning framework that utilized the knowledge derived from pan-cancer tumor samples to predict molecular features and responses.Among these models,TransCell had the best performance in predicting metabolite,gene effect score(or genetic dependency),and drug sensitivity,and had comparable performance in predicting mutation,copy number variation,and protein expression.Notably,TransCell improved the performance by over 50%in drug sensitivity prediction and achieved a correlation of 0.7 in gene effect score prediction.Furthermore,predicted drug sensitivities revealed potential repurposing candidates for new 100 pediatric cancer cell lines,and predicted gene effect scores reflected BRAF resistance in melanoma cell lines.Together,we investigated the predictive power of gene expression in six molecular measurement types and developed a web portal(http://apps.octad.org/transcell/)that enables the prediction of 352,000 genomic and cellular response features solely from gene expression profiles.
文摘Hypertrophic cardiomyopathy (HCM), the most common single-gene cardiovascular disease, is associated with increased risk for arrhythmias, heart failure, and sudden cardiac death. The hemodynamic changes known to occur during pregnancy can exacerbate heart failure and arrhythmias in women with HCM. We present a 30-year-old woman with HCM to illustrate the benefits of multidisciplinary team management of severe left ventricular outflow tract obstruction (peak gradient >100 mmHg) for optimal maternal and fetal outcomes.
