Publications by authors named "Laura Fitzpatrick"

Synthetic biology applications would benefit from protein modules of reduced complexity that function orthogonally to cellular components. As many subcellular processes depend on peptide-protein or protein-protein interactions, designed polypeptides that can bring together other proteins controllably are particularly useful. Thanks to established sequence-to-structure relationships, helical bundles provide good starting points for such designs.

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Rotator cuff pathology is a commonly encountered clinical and radiologic entity that can manifest as tendinopathy or tearing. Magnetic resonance imaging (MRI) and ultrasonography offer similar sensitivity and specificity for the evaluation of the native rotator cuff, and the chosen modality may vary, depending on local practice and accessibility. MR arthrography is frequently used in the postoperative setting as a problem-solving tool.

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Background: As pharmacogenomic services begin to emerge in primary care, the insight of the public is crucial for its integration into clinical practice.

Objectives: To establish perceptions of pharmacogenomics (awareness, understanding, openness to availability, perceived benefits and concerns, willingness to pay, and service setting) and investigate if they differ between those with and without chronic disease(s).

Methods: An anonymous, online questionnaire generated using Qualtrics® and circulated via social media and posters placed in eight participating community pharmacies was conducted with Irish adults.

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In recent years, it has become increasingly apparent that many neurological disorders are underpinned by a genetic aetiology. This has resulted in considerable efforts to develop therapeutic strategies which can treat the disease-causing mutation, either by supplying a functional copy of the mutated gene or editing the genomic sequence. In this review, we will discuss the main genetic strategies which are currently being explored for the treatment of monogenic neurological disorders, as well as some of the challenges they face.

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Background: In Kolkata (India), there are high rates of malnourished children (45.9%) under the age of three, impacting growth, organ development, function, and cognition. Mothers have a major role to play during this crucial development stage, with research showing nutrition knowledge, attitudes and practices (KAP) of mothers are important determinants of childhood malnutrition.

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Background: Hidradenitis suppurativa (HS) disproportionately affects women of childbearing age. However, pregnancy and maternal outcomes for women with HS are unknown.

Objective: To compare risk of adverse pregnancy and maternal outcomes among women with and without HS and to evaluate the influence of comorbid conditions.

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Acute mesenteric ischemia (AMI) is a life-threatening condition with a high mortality rate. The diagnosis of AMI is challenging because patient symptoms and laboratory test results are often nonspecific. A high degree of clinical and radiologic suspicion is required for accurate and timely diagnosis.

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Duplication of the X-linked gene causes a severe neurological syndrome whose molecular basis is poorly understood. To determine the contribution of known functional domains to overexpression toxicity, we engineered a mouse model that expresses wild-type or mutated MeCP2 from the () locus in addition to the endogenous protein. Animals that expressed approximately four times the wild-type level of MeCP2 failed to survive to weaning.

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Exosomes are extracellular vesicles that mediate cell-to-cell communication by transferring biological cargo, such as DNA, RNA and proteins. Through genetic engineering of exosome-producing cells or manipulation of purified exosomes, it is possible to load exosomes with therapeutic molecules and target them to specific cells via the display of targeting moieties on their surface. This provides an opportunity to exploit a naturally-occurring biological process for therapeutic purposes.

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Article Synopsis
  • Most missense mutations in Rett syndrome affect specific MeCP2 domains involved in DNA binding or transcription regulation, but some mutations, such as C-terminal truncations, occur outside these areas.* -
  • Research on four 'non-canonical' mutations in neurons and mice revealed that they can significantly decrease MeCP2 protein levels and disrupt interactions with co-repressors, impacting its functionality.* -
  • The discovery that certain C-terminal truncations do not impair MeCP2's function suggests a potential for developing small molecules to stabilize these mutant proteins for therapeutic use.*
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The use of oral contraceptive pills (OCPs), which can be an effective treatment of acne in women, is poorly understood among many dermatologists. In this study, we surveyed 116 US dermatologists about their knowledge, comfort, and prescribing practices pertaining to the use of OCPs. The majority of respondents had previously prescribed OCPs and believed they were an effective treatment of acne in women.

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Stroke is associated with vulnerable carotid artery plaques showing specific histopathologic features, namely a lipid-rich necrotic core, intraplaque hemorrhage, ulceration, and thin fibrous cap. While ultrasound and computed tomography (CT) can identify carotid plaques and determine the extent of stenosis, magnetic resonance imaging (MRI) provides further information regarding plaque composition and morphology. In this feasibility study, three patients with symptomatic, moderately stenosed plaques were imaged with CT angiography (CTA) and MRI (3T and 1.

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There are very few data available regarding the pattern of first metastases in resected mucosal melanomas (MMs) as well as the response of advanced MM to cytotoxic therapy. A retrospective, single-institution cohort was assembled of all patients with advanced/unresectable MM between 1995 and 2012 who had received systemic therapy with available imaging (N=81). Responses to first-line and second-line systemic therapy were assessed using Response Evaluation Criteria in Solid Tumors (RECIST) 1.

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Background: Genetic testing in psychiatry promises to improve patient care through advances in personalised medicine. However, there are few clinically relevant examples.

Aims: To determine whether patients with a well-established genetic subtype of schizophrenia show a different response profile to the antipsychotic clozapine than those with idiopathic schizophrenia.

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Family members of melanoma patients are often called upon to provide support, ranging from monetary to medical assistance. Consanguineal relatives of melanoma patients are also at greater risk of developing the disease themselves. However, as a group, they have limited understanding of their melanoma risk and they demonstrate inadequate primary and secondary prevention behaviors.

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New York State (NYS) established guidelines for nonoccupational post-exposure prophylaxis (nPEP) to HIV in 1997. To assess current nPEP practices in NYS Emergency Departments (EDs), we electronically surveyed all ED directors in NYS, excluding Veterans' Affairs hospitals, about nPEP and linkage-to-care protocols in the EDs. Basic descriptive statistics were used for analysis.

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The accuracy of the Nutrition Facts table (NFt) has a significant impact on Canadian efforts to reduce dietary sodium and monitor sodium content in foods. This study assessed the accuracy of sodium (and calories, trans fat, saturated fat, sugar) reported on the NFt for selected foods and beverages in Canada. The Canadian Food Inspection Agency (CFIA) sampled over 1000 foods and beverages from supermarkets, bakeries, and restaurants across Canada between January 2006 and December 2010.

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Background: Emergency department (ED) visits for skin symptoms are on the rise. The nature of these visits is not yet well characterized.

Objective: We sought to conduct a longitudinal analysis comparing patients discharged from the ED with dermatologic primary diagnoses to those with nondermatologic primary diagnoses.

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In 2010, New York (NY) passed new legislation mandating Emergency Departments (EDs) to offer HIV tests to patients 13-64 presenting for care. We evaluated the requirement's implementation and determined differences based on HIV prevalence or site-specific designated AIDS centers (DACs). We also evaluated policies for linkage to care of new HIV positive patients.

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Background: Food-associated allergies, especially to benzoates and cinnamon-related compounds, have been associated with orofacial granulomatosis and both standard and urticarial patch testing have been used to detect such allergies. Elimination diets have also been shown to be effective in some patients.

Objectives: To compare the results of standard and urticarial patch testing in a cohort of patients with orofacial granulomatosis.

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