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"McCormick, Elizabeth"
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Red & white quilts : infinite variety
\"This significant catalog is a highly detailed look at the world's most celebrated collection of red and white quilts. Like the Log Cabin or Baltimore-style, the red and white quilt is a hugely popular genre of quilting. Colorfast Turkey red dye became readily available in the mid-nineteenth century, so red and white quilts became extremely popular, due not only to the newness of the color but also because of the extremely vibrant and punchy contrasting color scheme. Featuring over 650 quilts from the past three centuries, this book is filled with the gorgeous and imaginative designs of feathered stars, diamonds, animals, oak leaves, baskets, lettering, and snowflakes, as well as fascinating examples of careful embroidery and appliquâe. With inspiring handiwork, designs, and visual histories, this book exemplifies the sheer magnitude and poetry of red and white quilts and is a staple compendium of this beloved art form.\" -- Amazon.com
Book
The case for including proteomics in routine diagnostic practice for rare disease
Many people with rare diseases cannot access personalized therapies because they do not have a confirmed genetic diagnosis. Promising technologies including proteomics are underutilized in routine diagnostic practice. It is time to incorporate proteomics into the diagnostic workflow to shorten time to diagnosis and expand treatment options for rare disease.
Journal Article
Mitochondrial disease patient motivations and barriers to participate in clinical trials
Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial participation in PMD.
A survey study was conducted in two independent mitochondrial disease subject cohorts. A discovery cohort invited subjects with well-defined biochemical or molecularly- confirmed PMD followed at a single medical center (CHOP, n = 30/67 (45%) respondents). A replication cohort included self-identified PMD subjects in the Rare Disease Clinical Research Network (RDCRN) national contact registry (n = 290/1119 (26%) respondents). Five-point Likert scale responses were analyzed using descriptive and quantitative statistics. Experienced and prioritized symptoms for trial participation, and patient attitudes toward detailed aspects of clinical trial drug features and study design.
PMD subjects experienced an average of 16 symptoms. Muscle weakness, chronic fatigue, and exercise intolerance were the lead symptoms encouraging trial participation. Motivating trial design factors included a self-administered study drug; vitamin, antioxidant, natural or plant-derivative; pills; daily treatment; guaranteed treatment access during and after study; short travel distances; and late-stage (phase 3) participation. Relative trial participation barriers included a new study drug; discontinuation of current medications; disease progression; daily phlebotomy; and requiring participant payment. Treatment trial type or design preferences were not influenced by population age (pediatric versus adult), prior research trial experience, or disease severity.
These data are the first to convey clear PMD subject preferences and priorities to enable improved clinical treatment trial design that cuts across the complex diversity of disease. Partnering with rare disease patient communities is essential to effectively design robust clinical trials that engage patients and enable meaningful evaluation of emerging treatment interventions.
Journal Article
Inside Out: Perceptions and Realities of Ambient Pollution and Indoor Air Quality in Four Office Buildings in the United States
Despite increasing awareness of the health risks associated with long‐term exposure to poor‐quality indoor air, many Americans often perceive ambient (outdoor) air pollution as a more significant threat. This perception is deeply rooted in historical fears, despite modern construction practices mitigating many of these risks. Although indoor air quality has only recently gained significant attention, it is a critical determinant of occupant satisfaction, well‐being, and health. This paper challenges two prevalent misconceptions about air quality in urban spaces: (1) That indoor air is always cleaner than ambient air, and (2) that poor indoor air is primarily caused by external, ambient sources. By analyzing both indoor and ambient air quality data from four urban office buildings in the US Southeast and Mid‐Atlantic region (Atlanta, Charlotte, Durham, and Washington, DC) alongside qualitative feedback, the study reveals that indoor air was only categorized as better than ambient air for 59.2% of working hours during the 12‐month period. While indoor air generally performed better than ambient air, significant fluctuations were observed, and in some cases, ambient air was cleaner than indoor air. Furthermore, the data showed that indoor pollution was more often influenced by internal factors, such as building materials, equipment, and occupant activities, rather than by external pollutants. The findings underscore the need for ongoing management of indoor sources of pollution, particularly in high‐performance environments. This research provides a comprehensive understanding of the complex relationship between perceived and measured air quality, advocating for a more nuanced approach to improving occupant health and satisfaction in urban office environments.
Journal Article
Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes
Mitochondrial DNA (mtDNA) genome integrity is essential for proper mitochondrial respiratory chain function to generate cellular energy. Nuclear genes encode several proteins that function at the mtDNA replication fork, including mitochondrial single-stranded DNA-binding protein (SSBP1), which is a tetrameric protein that binds and protects single-stranded mtDNA (ssDNA). Recently, two studies have reported pathogenic variants in SSBP1 associated with hearing loss, optic atrophy, and retinal degeneration. Here, we report a 14-year-old Chinese boy with severe and progressive mitochondrial disease manifestations across the full Pearson, Kearns-Sayre, and Leigh syndromes spectrum, including infantile anemia and bone marrow failure, growth failure, ptosis, ophthalmoplegia, ataxia, severe retinal dystrophy of the rod-cone type, sensorineural hearing loss, chronic kidney disease, multiple endocrine deficiencies, and metabolic strokes. mtDNA genome sequencing identified a single large-scale 5 kilobase mtDNA deletion (m.8629_14068del5440), present at 68% and 16% heteroplasmy in the proband's fibroblast cell line and blood, respectively, suggestive of a mtDNA maintenance defect. On trio whole exome blood sequencing, the proband was found to harbor a novel de novo heterozygous mutation c.79G>A (p.E27K) in SSBP1. Size exclusion chromatography of p.E27K SSBP1 revealed it remains a stable tetramer. However, differential scanning fluorimetry demonstrated p.E27K SSBP1 relative to wild type had modestly decreased thermostability. Functional assays also revealed p.E27K SSBP1 had altered DNA binding. Molecular modeling of SSBP1 tetramers with varying combinations of mutant subunits predicted general changes in surface accessible charges, strength of inter-subunit interactions, and protein dynamics. Overall, the observed changes in protein dynamics and DNA binding behavior suggest that p.E27K SSBP1 can interfere with DNA replication and precipitate the introduction of large-scale mtDNA deletions. Thus, a single large-scale mtDNA deletion (SLSMD) with manifestations across the clinical spectrum of Pearson, Kearns-Sayre, and Leigh syndromes may result from a nuclear gene disorder disrupting mitochondrial DNA replication.
Journal Article
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Primary genetic mitochondrial diseases are often difficult to diagnose, and the term ‘possible’ mitochondrial disease is used frequently by clinicians when such a diagnosis is suspected. There are now many known phenocopies of mitochondrial disease. Advances in genomic testing have shown that some patients with a clinical phenotype and biochemical abnormalities suggesting mitochondrial disease may have other genetic disorders. In instances when a genetic diagnosis cannot be confirmed, a diagnosis of ‘possible’ mitochondrial disease may result in harm to patients and their families, creating anxiety, delaying appropriate diagnosis and leading to inappropriate management or care. A categorisation of ‘diagnosis uncertain’, together with a specific description of the metabolic or genetic abnormalities identified, is preferred when a mitochondrial disease cannot be genetically confirmed.
Journal Article
Risk factors for poor bone health in primary mitochondrial disease
Introduction
Primary mitochondrial disease is caused by either mitochondrial or nuclear DNA mutations that impact the function of the mitochondrial respiratory chain. Individuals with mitochondrial disorders have comorbid conditions that may increase their risk for poor bone health. The objective of this retrospective electronic medical record (EMR) review was to examine risk factors for poor bone health in children and adults with primary mitochondrial disease.
Methods
Eighty individuals with confirmed clinical and genetic diagnoses of primary mitochondrial disease at the Children’s Hospital of Philadelphia (CHOP) were included in this study. Risk factors and bone health outcomes were collected systematically, including: anthropometrics (low BMI), risk-conferring co-morbidities and medications, vitamin D status, nutrition, immobility, fracture history, and, where available, dual energy x-ray absorptiometry (DXA) bone mineral density (BMD) results.
Results
Of patients 73% (
n
= 58) had at least one risk factor and 30% (
n
= 24) had four or more risk factors for poor bone health. The median number of risk factors per participant was 2, with an interquartile interval (IQI 0–4). In the subset of the cohort who were known to have sustained any lifetime fracture (
n
= 11), a total of 16 fractures were reported, six of which were fragility fractures, indicative of a clinically significant decrease in bone strength.
Conclusions
The prevalence of risk factors for poor bone health in primary mitochondrial disease is high. As part of supportive care, practitioners should address modifiable risk factors to optimize bone health, and have a low threshold to evaluate clinical symptoms that could suggest occult fragility fracture.
Journal Article
Process-Oriented Design Methodologies Inspired by Tropical Plants
In light of the escalating climate crisis, there is a pressing need for a significant shift in how we design the built environment to effectively confront global challenges. Natural systems have inspired scientists, architects, and engineers for centuries; however, conventional biomimetic approaches often focus on superficial aspects, disregarding the underlying complexities. While this approach may lead to a more efficient outcome, it operates under the assumption that the organism functions exclusively within the confines of human knowledge, which are inherently limited by established epistemological and technological systems. This study advocates for a departure from conventional biomimetic approaches and asks the mechanisms of the biological system to inform the process of translation, as opposed to simply defining the outcome. By relinquishing control to material properties and dynamic processes of the biological analog, this study explores the generation of novel, bio-inspired dynamic formworks through non-linear fabrication processes. Specifically, it investigates the thermal properties of accessible building materials, enabling them to respond to environmental conditions without sophisticated technology or human intervention. By embracing chance and unpredictability, translated behaviors are granted the same influence as human intervention. Drawing inspiration from adaptive plant physiology, this research seeks to inspire innovative, climate-responsive methodological practices within broader architectural systems.
Journal Article
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient
We report a 20-year-old, female, adopted Indian patient with over 662 Mb regions of homozy-gosity who presented with intellectual disability, ataxia, schizophrenia, retinal dystrophy, moder-ate-to-severe progressive sensorineural hearing loss (SNHL), congenital hypothyroidism, cleft mi-tral valve with mild mitral valve regurgitation, and dysmorphic features. Exome analysis first on a clinical basis and subsequently on research reanalysis uncovered pathogenic variants in three nu-clear genes following two modes of inheritance that were causal to her complex phenotype. These included (1) compound heterozygous variants in BBS6 potentially causative for Bardet–Biedl syn-drome 6; (2) a homozygous, known pathogenic variant in the stereocilin (STRC) gene associated with nonsyndromic deafness; and (3) a homozygous variant in dual oxidase 2 (DUOX2) gene asso-ciated with congenital hypothyroidism. A variant of uncertain significance was identified in a fourth gene, troponin T2 (TNNT2), associated with cardiomyopathy but not the cleft mitral valve, with mild mitral regurgitation seen in this case. This patient was the product of an apparent first-degree relationship, explaining the multiple independent inherited findings. This case high-lights the need to carefully evaluate multiple independent genetic etiologies for complex pheno-types, particularly in the case of consanguinity, rather than presuming unexplained features are expansions of known gene disorders.
Journal Article
The profound implications of mitochondrial myopathy on activities of daily living: an observational qualitative study of standardized structured and semi-structured patient interviews
Background:
The impact of Mitochondrial Myopathy (MM) symptoms on functional ability across activities of daily living (ADLs) has not been fully characterized, nor is it understood how MM patients define their key symptoms. Furthermore, it is unclear what MM individuals perceive as a clinically meaningful improvement.
Objective:
We sought to characterize how MM patients feel about their symptoms in the key MM domains of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy; as well as their functional ability.
Design:
We conducted a single-center, observational, qualitative study that involved standardized structured and semi-structured patient interviews.
Methods:
Most interview questions were open-ended, allowing individuals to provide personalized narratives that were transcribed in real time. A total of 33 individuals with MM were interviewed either in-person or remotely. Interview transcripts underwent thematic analysis in accordance with grounded theory. Data was presented using a mixed-methods approach.
Results:
Subjects provided extensive narratives that demonstrated the substantial and widespread impact of MM across many aspects of MM patient lives, including the impact of each MM domain of muscle weakness, muscle fatigue, exercise intolerance, imbalance, and peripheral neuropathy on ADLs; the need to adapt to preserve independence and quality of life (QOL); impaired self-perception, participation in social activities, hobbies, and relationships; and change in circumstances over time.
Conclusion:
These meaningful insights highlight the critical and emergent need for approved drug treatment(s) in this profoundly burdened patient population. Our results will serve as a comprehensive resource to inform the physician, patient, industry and advocacy communities on outcome measure selection and clinical trial design; and to help inform regulatory agencies in the United States Food and Drug Administration (FDA) drug approval process for MM.
Journal Article