Publications by authors named "Angela Martinelli"

Multi-analyte liquid biopsies represent an emerging opportunity for non-invasive cancer assessment. We developed ONCE (One Aliquot for Circulating Elements), an approach for the isolation of extracellular vesicles (EV) and cell-free DNA (cfDNA) from a single aliquot of blood. We assessed ONCE performance to classify HER2-positive early-stage breast cancer (BrCa) patients by combining EV-associated RNA (EV-RNA) and cfDNA signals on  = 64 healthy donors (HD) and non-metastatic BrCa patients.

View Article and Find Full Text PDF
Article Synopsis
  • * A genome-wide association study (GWAS) involving over 13,000 to 33,000 participants revealed significant associations in word reading linked to specific genetic markers, while accounting for 13-26% of the variability in various language-related traits.
  • * The research indicates a shared genetic factor among several language skills and establishes connections to brain structure associated with language processing, emphasizing the role of genetics in understanding human language abilities.
View Article and Find Full Text PDF

Efficient, wide-scale testing for SARS-CoV-2 is crucial for monitoring the incidence of the infection in the community. The gold standard for COVID-19 diagnosis is the molecular analysis of epithelial secretions from the upper respiratory system captured by nasopharyngeal (NP) or oropharyngeal swabs. Given the ease of collection, saliva has been proposed as a possible substitute to support testing at the population level.

View Article and Find Full Text PDF

Following its association with dyslexia in multiple genetic studies, the KIAA0319 gene has been extensively investigated in different animal models but its function in neurodevelopment remains poorly understood. We developed the first human cellular knockout model for KIAA0319 in RPE1 retinal pigment epithelia cells via CRISPR-Cas9n to investigate its role in processes suggested but not confirmed in previous studies, including cilia formation and cell migration. We observed in the KIAA0319 knockout increased cilia length and accelerated cell migration.

View Article and Find Full Text PDF

At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.

View Article and Find Full Text PDF

Dyslexia is a common neurodevelopmental disorder caused by a significant genetic component. The KIAA0319 gene is one of the most robust dyslexia susceptibility factors but its function remains poorly understood. Initial RNA-interference studies in rats suggested a role in neuronal migration whereas subsequent work with double knock-out mouse models for both Kiaa0319 and its paralogue Kiaa0319-like reported effects in the auditory system but not in neuronal migration.

View Article and Find Full Text PDF

Background: Cluster Headache (CH) is a severe primary headache, with a poorly understood pathophysiology. Complex genetic factors are likely to play a role in CH etiology; however, no confirmed gene associations have been identified. The aim of this study is to identify genetic variants influencing risk to CH and to explore the potential pathogenic mechanisms.

View Article and Find Full Text PDF

A significant proportion of children (up to 7% in the UK) present with pronounced language difficulties that cannot be explained by obvious causes like other neurological and medical conditions. A substantial genetic component is predicted to underlie such language problems. Copy number variants (CNVs) have been implicated in neurodevelopmental and psychiatric conditions, such as autism and schizophrenia, but it is not fully established to what extent they might contribute to language disorders.

View Article and Find Full Text PDF

Research programs fill important research gaps through evaluation of the funding landscape, identification of the research gaps, and the development of novel award mechanisms.

View Article and Find Full Text PDF

Objective : To study the growth of children with complete unilateral cleft lip and palate (UCLP) from 2 to 10 years of age and to assess whether growth varied from that of children without UCLP (typical children). Design : Physical growth was one of the outcome measures of a National Institutes of Health-sponsored longitudinal, prospective clinical trial conducted by the University of Florida and the University of São Paulo. Setting : Hospital of Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP), Bauru, Brazil.

View Article and Find Full Text PDF

The goal of this prospective randomized clinical trial was to compare 2 cohorts of standardized cleft patients with regard to functional speech outcome and the presence or absence of palatal fistulae. The 2 cohorts are randomized to undergo either a conventional von Langenbeck repair with intravelar velarplasty or the double-opposing Z-plasty Furlow procedure. A prospective 2 × 2 × 2 factorial clinical trial was used in which each subject was randomly assigned to 1 of 8 different groups: 1 of 2 different lip repairs (Spina vs.

View Article and Find Full Text PDF

Objective: Cleft palate increases the risk of chronic middle ear disease and hearing loss. The goal of this report was to determine which of two palate surgeries and which timing of palate surgery were associated with better otologic and audiologic outcomes in children with unilateral cleft lip and palate at 5 to 6 years of age.

Design: Subjects were randomly assigned to the von Langenbeck with intravelar veloplasty or Furlow palate repair, to palate surgery at 9 to 12 months or 15 to 18 months of age, and to the Spina or Millard lip repair.

View Article and Find Full Text PDF

The events of September 11, 2001, set in motion the broadest emergency response ever conducted by the US Department of Health and Human Services. In this article, some of the nurses who deployed to New York City in the aftermath of that horrific attack on the United States offer their recollections of the events. Although Public Health Service Commissioned Corps (PHS CC) officers participated in deployments before 9/11, this particular deployment accelerated the transformation of the PHS CC, because people came to realize the tremendous potential of a uniformed service of 6,000 health care professionals.

View Article and Find Full Text PDF

The US Public Health Service (PHS) is one of 7 uniformed services operating for the nation. Nurses form the largest category of personnel in the PHS and are integral members of teams identified to deploy in times of national need. PHS nurses serve "in harm's way" to protect and defend the public health of the nation during national emergencies and disasters of great magnitude, such as 9/11, Hurricane Katrina, the H1N1 virus outbreak, and so forth.

View Article and Find Full Text PDF

The purpose of this chapter is to present an analysis of selected published nursing workforce studies published between the years of 2005 and 2010. Thirteen nursing workforce studies were reviewed and analyzed using a modification of the method suggested by Ganong (1987). Nursing workforce studies were selected based on the following criteria: (1) the date of publication was between the years of 2005 and 2010; (2) the primary focus was on nurses working in practice; or, as students or faculty in nursing educational programs.

View Article and Find Full Text PDF

Objective: To study the growth of children with complete unilateral cleft lip and palate (UCLP) from birth to 2 years of age and to construct specific UCLP growth curves.

Design: Physical growth was a secondary outcome measure of a National Institutes of Health-sponsored longitudinal, prospective clinical trial involving the University of Florida (United States) and the University of São Paulo (Brazil).

Patients: Six hundred twenty-seven children with UCLP, nonsyndromic, both genders.

View Article and Find Full Text PDF

On January 6, 2005, the National Response Plan (NRP) was introduced to standardize a national approach for responding to natural or man-made threats. The underlying structure for the NRP is the National Incident Management System, which establishes standardized training, organization, and communications procedures that can be used by multiple jurisdictions to interact in a disaster. The NRP clearly identifies authority and leadership responsibilities.

View Article and Find Full Text PDF

Smallpox infection was often more severe in pregnant women than in non-pregnant women or in men, regardless of vaccination status. Women with smallpox infection during pregnancy have higher rates of abortions, stillbirths, and preterm deliveries than women without the disease. Pregnant women have high incidences of hemorrhagic-type and flat-type smallpox, which are associated with extremely high fatality rates.

View Article and Find Full Text PDF

The global eradication of smallpox in the late 1970s was a major achievement of the 20th century and brought out the best in science and public health. Prior to eradication, smallpox was a devastating disease with an overall mortality rate of approximately 5% to 30% for the most common form of the disease depending on vaccination status and the clinical presentation. The more severe forms of smallpox (i.

View Article and Find Full Text PDF

The purpose of this study was to test a model of exposure to environmental tobacco smoke (ETS) in military women and their children. The convenience sample consisted of 238 women, 81 smokers and 157 nonsmokers, with a mean age of 37 years (SD = 9.9).

View Article and Find Full Text PDF