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2.
PLoS Genet ; 17(9): e1009726, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34473707

RESUMO

Selective breeding for desirable traits in strictly controlled populations has generated an extraordinary diversity in canine morphology and behaviour, but has also led to loss of genetic variation and random entrapment of disease alleles. As a consequence, specific diseases are now prevalent in certain breeds, but whether the recent breeding practice led to an overall increase in genetic load remains unclear. Here we generate whole genome sequencing (WGS) data from 20 dogs per breed from eight breeds and document a ~10% rise in the number of derived alleles per genome at evolutionarily conserved sites in the heavily bottlenecked cavalier King Charles spaniel breed (cKCs) relative to in most breeds studied here. Our finding represents the first clear indication of a relative increase in levels of deleterious genetic variation in a specific breed, arguing that recent breeding practices probably were associated with an accumulation of genetic load in dogs. We then use the WGS data to identify candidate risk alleles for the most common cause for veterinary care in cKCs-the heart disease myxomatous mitral valve disease (MMVD). We verify a potential link to MMVD for candidate variants near the heart specific NEBL gene in a dachshund population and show that two of the NEBL candidate variants have regulatory potential in heart-derived cell lines and are associated with reduced NEBL isoform nebulette expression in papillary muscle (but not in mitral valve, nor in left ventricular wall). Alleles linked to reduced nebulette expression may hence predispose cKCs and other breeds to MMVD via loss of papillary muscle integrity.


Assuntos
Doenças do Cão/genética , Cães/genética , Variação Genética , Doenças das Valvas Cardíacas/veterinária , Valva Mitral/patologia , Mutação , Alelos , Animais , Ensaio de Desvio de Mobilidade Eletroforética , Expressão Gênica , Doenças das Valvas Cardíacas/genética
3.
Environ Microbiol ; 25(9): 1674-1695, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37655642

RESUMO

Cluster 5 picocyanobacteria significantly contribute to primary productivity in aquatic ecosystems. Estuarine populations are highly diverse and consist of many co-occurring strains, but their physiology remains largely understudied. In this study, we characterized 17 novel estuarine picocyanobacterial strains. Phylogenetic analysis of the 16S rRNA and pigment genes (cpcB and cpeBA) uncovered multiple estuarine and freshwater-related clusters and pigment types. Assays with five representative strains (three phycocyanin rich and two phycoerythrin rich) under temperature (10-30°C), light (10-190 µmol photons m-2 s-1 ), and salinity (2-14 PSU) gradients revealed distinct growth optima and tolerance, indicating that genetic variability was accompanied by physiological diversity. Adaptability to environmental conditions was associated with differential pigment content and photosynthetic performance. Amplicon sequence variants at a coastal and an offshore station linked population dynamics with phylogenetic clusters, supporting that strains isolated in this study represent key ecotypes within the Baltic Sea picocyanobacterial community. The functional diversity found within strains with the same pigment type suggests that understanding estuarine picocyanobacterial ecology requires analysis beyond the phycocyanin and phycoerythrin divide. This new knowledge of the environmental preferences in estuarine picocyanobacteria is important for understanding and evaluating productivity in current and future ecosystems.


Assuntos
Ecossistema , Ficocianina , Ficocianina/genética , Ficoeritrina , Filogenia , RNA Ribossômico 16S/genética
4.
BMC Genomics ; 19(1): 492, 2018 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-29940849

RESUMO

BACKGROUND: Miniature size in horses represents an extreme reduction of withers height that originated after domestication. In some breeds, it is a highly desired trait representing a breed- or subtype-specific feature. The genomic changes that emerged due to strong-targeted selection towards this distinct type remain unclear. RESULTS: Comparisons of whole-genome sequencing data from two Miniature Shetland ponies and one standard-sized Shetland pony, performed to elucidate genetic determinants for miniature size, revealed four synergistic variants, limiting withers height to 34.25 in. (87 cm). Runs of homozygosity regions were detected spanning these four variants in both the Miniature Shetland ponies and the standard-sized Shetland pony. They were shown to be characteristic of the Shetland pony breed, resulting in a miniature type under specific genotypic combinations. These four genetic variants explained 72% of the size variation among Shetland ponies and related breeds. The length of the homozygous regions indicate that they arose over 1000 years ago. In addition, a copy number variant was identified in DIAPH3 harboring a loss exclusively in ponies and donkeys and thus representing a potential height-associated variant. CONCLUSION: This study reveals main drivers for miniature size in horses identified in whole genome data and thus provides relevant candidate genes for extremely short stature in mammals.


Assuntos
Tamanho Corporal/fisiologia , Genômica/métodos , Animais , Tamanho Corporal/genética , Equidae , Genótipo , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Cavalos , Fenótipo , Polimorfismo de Nucleotídeo Único/genética
5.
MMWR Morb Mortal Wkly Rep ; 64(12): 328-30, 2015 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-25837244

RESUMO

Since 2010, CDC has provided resources from the Prevention and Public Health Fund of the Affordable Care Act to 57 state, local, and territorial health departments through the Epidemiology and Laboratory Capacity for Infectious Diseases cooperative agreement to assist with implementation of electronic laboratory reporting (ELR)* from clinical and public health laboratories to public health agencies. To update information from a previous report about the progress in implementing ELR in the United States, CDC examined regular communications between the agency and the 57 health departments during 2012-2014. The results indicated that, as of July 2014, 67% of the approximately 20 million laboratory reports received annually for notifiable conditions were received electronically, compared with 62% in July 2013. These electronic reports were received by 55 of the 57 jurisdictions and came from 3,269 (up from nearly 2,900 in July 2013) of approximately 10,600 reporting laboratories. The proportion of laboratory reports received electronically varied by jurisdiction. In 2014, compared with 2013, the number of jurisdictions receiving >75% of laboratory reports electronically was higher (21 versus 14), and the number of jurisdictions receiving <25% of reports electronically was lower (seven versus nine). National implementation of ELR continues to increase and appears it might reach 80% of total laboratory report volume by 2016.


Assuntos
Sistemas de Informação em Laboratório Clínico/organização & administração , Vigilância da População/métodos , Administração em Saúde Pública , Eletrônica , Humanos , Notificação de Abuso , Estados Unidos
6.
Public Health Rep ; : 333549241227160, 2024 Feb 27.
Artigo em Inglês | MEDLINE | ID: mdl-38411134

RESUMO

INTRODUCTION: The COVID-19 pandemic highlighted the need for a nationwide health information technology solution that could improve upon manual case reporting and decrease the clinical and administrative burden on the US health care system. We describe the development, implementation, and nationwide expansion of electronic case reporting (eCR), including its effect on public health surveillance and pandemic readiness. METHODS: Multidisciplinary teams developed and implemented a standards-based, shared, scalable, and interoperable eCR infrastructure during 2014-2020. From January 27, 2020, to January 7, 2023, the team conducted a nationwide scale-up effort and determined the number of eCR-capable electronic health record (EHR) products, the number of reportable conditions available within the infrastructure, and technical connections of health care organizations (HCOs) and jurisdictional public health agencies (PHAs) to the eCR infrastructure. The team also conducted data quality studies to determine whether HCOs were discontinuing manual case reporting and early results of eCR timeliness. RESULTS: During the study period, the number of eCR-capable EHR products developed or in development increased 11-fold (from 3 to 33), the number of reportable conditions available increased 28-fold (from 6 to 173), the number of HCOs connected to the eCR infrastructure increased 143-fold (from 153 to 22 000), and the number of jurisdictional PHAs connected to the eCR infrastructure increased 2.75-fold (from 24 to 66). Data quality reviews with PHAs resulted in select HCOs discontinuing manual case reporting and using eCR-exclusive case reporting in 13 PHA jurisdictions. The timeliness of eCR was <1 minute. PRACTICE IMPLICATIONS: The growth of eCR can revolutionize public health case surveillance by producing data that are more timely and complete than manual case reporting while reducing reporting burden.

7.
J Am Med Inform Assoc ; 13(1): 1-4, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16221945

RESUMO

The Public Health Information Network (PHIN) Preparedness initiative strives to implement, on an accelerated pace, a consistent national network of information systems that will support public health in being prepared for public health emergencies. Using the principles and practices of the broader PHIN initiative, PHIN Preparedness concentrates in the short term on ensuring that all public health jurisdictions have, or have access to, systems to accomplish known preparedness functions. The PHIN Preparedness initiative defines functional requirements, technical standards and specifications, and a process to achieve consistency and interconnectedness of preparedness systems across public health.


Assuntos
Serviços de Informação/normas , Sistemas de Informação/normas , Informática em Saúde Pública/organização & administração , Bioterrorismo/prevenção & controle , Planejamento em Desastres/organização & administração , Humanos , Sistemas de Informação/organização & administração , Vigilância da População/métodos , Estados Unidos
9.
J Infect Dis ; 185(8): 1005-10, 2002 Apr 15.
Artigo em Inglês | MEDLINE | ID: mdl-11930308

RESUMO

In 1997, outbreaks of highly pathogenic influenza A (H5N1) among poultry coincided with 18 documented human cases of H5N1 illness. Although exposure to live poultry was associated with human illness, no cases were documented among poultry workers (PWs). To evaluate the potential for avian-to-human transmission of H5N1, a cohort study was conducted among 293 Hong Kong government workers (GWs) who participated in a poultry culling operation and among 1525 PWs. Paired serum samples collected from GWs and single serum samples collected from PWs were considered to be anti-H5 antibody positive if they were positive by both microneutralization and Western blot testing. Among GWs, 3% were seropositive, and 1 seroconversion was documented. Among PWs, approximately 10% had anti-H5 antibody. More-intensive poultry exposure, such as butchering and exposure to ill poultry, was associated with having anti-H5 antibody. These findings suggest an increased risk for avian influenza infection from occupational exposure.


Assuntos
Virus da Influenza A Subtipo H5N1 , Vírus da Influenza A , Influenza Humana/etiologia , Doenças Profissionais/etiologia , Aves Domésticas/virologia , Adolescente , Adulto , Animais , Estudos de Casos e Controles , Feminino , Hong Kong/epidemiologia , Humanos , Influenza Humana/epidemiologia , Masculino , Pessoa de Meia-Idade , Exposição Ocupacional , Fatores de Risco , Estudos Soroepidemiológicos , Fatores de Tempo
10.
Emerg Infect Dis ; 8(2): 145-53, 2002 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-11897065

RESUMO

Population-based surveillance for unexplained death and critical illness possibly due to infectious causes (UNEX) was conducted in four U.S. Emerging Infections Program sites (population 7.7 million) from May 1, 1995, to December 31, 1998, to define the incidence, epidemiologic features, and etiology of this syndrome. A case was defined as death or critical illness in a hospitalized, previously healthy person, 1 to 49 years of age, with infection hallmarks but no cause identified after routine testing. A total of 137 cases were identified (incidence rate 0.5 per 100,000 per year). Patients' median age was 20 years, 72 (53%) were female, 112 (82%) were white, and 41 (30%) died. The most common clinical presentations were neurologic (29%), respiratory (27%), and cardiac (21%). Infectious causes were identified for 34 cases (28% of the 122 cases with clinical specimens); 23 (68%) were diagnosed by reference serologic tests, and 11 (32%) by polymerase chain reaction-based methods. The UNEX network model would improve U.S. diagnostic capacities and preparedness for emerging infections.


Assuntos
Infecções Bacterianas/complicações , Infecções Bacterianas/mortalidade , Estado Terminal , Vigilância da População/métodos , Viroses/complicações , Viroses/mortalidade , Adolescente , Adulto , Infecções Bacterianas/diagnóstico , Infecções Bacterianas/epidemiologia , Causas de Morte , Criança , Pré-Escolar , Estado Terminal/mortalidade , Feminino , Humanos , Incidência , Lactente , Masculino , Prontuários Médicos , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Estados Unidos/epidemiologia , Viroses/diagnóstico
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