The 25th Anniversary of the Baby Doe Rules: Perspectives from the Fields of Law, Health Care, Ethics, and Disability Policy

A highly publicized and controversial case involving the withholding of medical treatment from a “Baby Doe” with Down syndrome gave rise in 1984 to the federal law known as the Baby Doe Rules, which went into effect the following year. The law conditions the grant of federal funds for any state’s child protective services program on the state’s assurance that it can respond to reports of medical neglect, which may include the withholding of medical treatment from disabled infants with life-threatening conditions. Leading scholars and practitioners from the fields of health care, law, ethics, and disability policy who are experts in the field of neonatal medicine and decision-making involving very premature and other medically at-risk infants gathered to provide thoughtful commentary and debate on the occasion of the 25th Anniversary of the Baby Doe Rules. The Georgia State University Law Review will publish a symposium volume on the topic in Fall 2009

The 25th Anniversary of the Baby Doe Rules: Perspectives from the Fields of Law, Health Care, Ethics, and Disability Policy

A highly publicized and controversial case involving the withholding of medical treatment from a “Baby Doe” with Down syndrome gave rise in 1984 to the federal law known as the Baby Doe Rules, which went into effect the following year. The law conditions the grant of federal funds for any state’s child protective services program on the state’s assurance that it can respond to reports of medical neglect, which may include the withholding of medical treatment from disabled infants with life-threatening conditions. Leading scholars and practitioners from the fields of health care, law, ethics, and disability policy who are experts in the field of neonatal medicine and decision-making involving very premature and other medically at-risk infants gathered to provide thoughtful commentary and debate on the occasion of the 25th Anniversary of the Baby Doe Rules. The Georgia State University Law Review will publish a symposium volume on the topic in Fall 2009

Whole-genome landscapes of major melanoma subtypes

Melanoma of the skin is a common cancer only in Europeans, whereas it arises in internal body surfaces (mucosal sites) and on the hands and feet (acral sites) in people throughout the world. Here we report analysis of whole-genome sequences from cutaneous, acral and mucosal subtypes of melanoma. The heavily mutated landscape of coding and non-coding mutations in cutaneous melanoma resolved novel signatures of mutagenesis attributable to ultraviolet radiation. However, acral and mucosal melanomas were dominated by structural changes and mutation signatures of unknown aetiology, not previously identified in melanoma. The number of genes affected by recurrent mutations disrupting non-coding sequences was similar to that affected by recurrent mutations to coding sequences. Significantly mutated genes included BRAF, CDKN2A, NRAS and TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma. Mutations affecting the TERT promoter were the most frequent of all; however, neither they nor ATRX mutations, which correlate with alternative telomere lengthening, were associated with greater telomere length. Most melanomas had potentially actionable mutations, most in components of the mitogen-activated protein kinase and phosphoinositol kinase pathways. The whole-genome mutation landscape of melanoma reveals diverse carcinogenic processes across its subtypes, some unrelated to sun exposure, and extends potential involvement of the non-coding genome in its pathogenesis

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

The 25th Anniversary of the Baby Doe Rules: Perspectives from the Fields of Law, Health Care, Ethics, and Disability Policy

A highly publicized and controversial case involving the withholding of medical treatment from a “Baby Doe” with Down Syndrome gave rise in 1984 to the federal law known as the Baby Doe Rules, which went into effect the following year. The law conditions the grants if federal funds for any state’s child protective services program on the state’s assurance that it can respond to reports of medical neglect, which may include the withholding of medical treatment from disabled infants with life-threatening conditions. Leading scholars and practitioners from the fields of health care, law, ethics, and disability policy who are experts in the fields of neonatal medicine and decision-making involving very premature and other medically at risk infants will gather to provide thoughtful commentary and debate on the occasion of the 25th Anniversary of the Baby Doe rules. The Georgia State University Law Review will publish a symposium volume on the topic in Spring 2009

The 25th Anniversary of the Baby Doe Rules: Perspectives from the Fields of Law, Health Care, Ethics, and Disability Policy

A highly publicized and controversial case involving the withholding of medical treatment from a “Baby Doe” with Down Syndrome gave rise in 1984 to the federal law known as the Baby Doe Rules, which went into effect the following year. The law conditions the grants if federal funds for any state’s child protective services program on the state’s assurance that it can respond to reports of medical neglect, which may include the withholding of medical treatment from disabled infants with life-threatening conditions. Leading scholars and practitioners from the fields of health care, law, ethics, and disability policy who are experts in the fields of neonatal medicine and decision-making involving very premature and other medically at risk infants will gather to provide thoughtful commentary and debate on the occasion of the 25th Anniversary of the Baby Doe rules. The Georgia State University Law Review will publish a symposium volume on the topic in Spring 2009

Whole-genome landscapes of major melanoma subtypes

Melanoma of the skin is a common cancer only in Europeans, whereas it arises in internal body surfaces (mucosal sites) and on the hands and feet (acral sites) in people throughout the world. Here we report analysis of whole-genome sequences from cutaneous, acral and mucosal subtypes of melanoma. The heavily mutated landscape of coding and non-coding mutations in cutaneous melanoma resolved novel signatures of mutagenesis attributable to ultraviolet radiation. However, acral and mucosal melanomas were dominated by structural changes and mutation signatures of unknown aetiology, not previously identified in melanoma. The number of genes affected by recurrent mutations disrupting non-coding sequences was similar to that affected by recurrent mutations to coding sequences. Significantly mutated genes included BRAF, CDKN2A, NRAS and TP53 in cutaneous melanoma, BRAF, NRAS and NF1 in acral melanoma and SF3B1 in mucosal melanoma. Mutations affecting the TERT promoter were the most frequent of all; however, neither they nor ATRX mutations, which correlate with alternative telomere lengthening, were associated with greater telomere length. Most melanomas had potentially actionable mutations, most in components of the mitogen-activated protein kinase and phosphoinositol kinase pathways. The whole-genome mutation landscape of melanoma reveals diverse carcinogenic processes across its subtypes, some unrelated to sun exposure, and extends potential involvement of the non-coding genome in its pathogenesis