Breast cancers are rare diseases—and must be treated as such

Bartlett, John M.S.; Parelukar, Wendy

doi:10.1038/s41523-017-0013-y

Cited by 13 publications

(10 citation statements)

References 15 publications

(21 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Personalized medicine based on molecular diagnosis has fragmented complex diseases, such as cancer, into multiple molecular subtypes, each one representing a rare disease [18, 19]. This has extended the classification of rare disease to other illnesses that were not previously considered as such.…”

Section: Discussionmentioning

confidence: 99%

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Sampayo-Cordero¹,

Miguel-Huguet²,

Pardo-Mateos³

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

BackgroundA preliminary exploratory study shows solid agreement between the results of case reports and clinical study meta-analyses in mucopolysaccharidosis Type I (MPS-I) adult patients. The aim of the present study is to confirm previous results in another patient population, suffering from mucopolysaccharidosis Type II (MPS-II).MethodsA systematic review and meta-analysis of case reports published by April 2018 was conducted for MPS-II patients treated with enzyme replacement therapy (ERT). The study is reported in accordance with PRISMA and MOOSE guidelines (PROSPERO database code CRD42018093408). The assessed population and outcomes were the same as previously analyzed in a meta-analysis of MPS-II clinical studies. The primary endpoint was the percent of clinical cases showing improvement in efficacy outcome, or no harm in safety outcome after ERT initiation. A restrictive procedure to aggregate case reports, by selecting standardized and well-defined outcomes, was proposed. Different sensitivity analyses were able to evaluate the robustness of results.ResultsEvery outcome classified as “acceptable evidence group” in our case report meta-analysis had been graded as “moderate strength of evidence” in the aforementioned meta-analysis of clinical studies. Sensitivity, specificity, and positive-negative predictive values for results of both meta-analyses reached 100%, and were deemed equivalent.ConclusionsAggregating case reports quantitatively, rather than analyzing them qualitatively, may improve conclusions in rare diseases and personalized medicine. Additionally, we propose some methods to evaluate publication bias and heterogeneity of the included studies in a meta-analysis of case reports.

show abstract

Section: Discussionmentioning

confidence: 99%

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Sampayo-Cordero¹,

Miguel-Huguet²,

Pardo-Mateos³

et al. 2019

Orphanet J Rare Dis

View full text Add to dashboard Cite

show abstract

“…As a consequence, breast cancer is becoming increasingly heterogeneous as it is further divided into categories of ‘basal-like’ and ‘luminal’ cancers, and according to known single gene markers such as BRCA1/2 ( ibid ). Indeed, a recent article in Nature 's Breast Cancer journal suggests that this (ongoing) fragmentation demands that breast cancers be considered as rare diseases ( Bartlett and Parelukar, 2017 ).…”

Section: Introductionmentioning

confidence: 99%

Diagnostic layering: Patient accounts of breast cancer classification in the molecular era

Ross

Swallow

Kerr

et al. 2021

Social Science & Medicine

View full text Add to dashboard Cite

Social scientific work has considered the promise of genomic medicine to transform healthcare by personalising treatment. However, little qualitative research attends to already well-established molecular techniques in routine care. In this article we consider women's experiences of routine breast cancer diagnosis in the UK NHS. We attend to patient accounts of the techniques used to subtype breast cancer and guide individual treatment. We introduce the concept of ‘diagnostic layering’ to make sense of how the range of clinical techniques used to classify breast cancer shape patient experiences of diagnosis. The process of diagnostic layering, whereby various levels of diagnostic information are received by patients over time, can render diagnosis as incomplete and subject to change. In the example of early breast cancer, progressive layers of diagnostic information are closely tied to chemotherapy recommendations. In recent years a genomic test, gene expression profiling, has become introduced into routine care. Because gene expression profiling could indicate a treatment recommendation where standard tools had failed, the technique could represent a ‘final layer’ of diagnosis for some patients. However, the test could also invalidate previous understandings of the cancer, require additional interpretation and further prolong the diagnostic process. This research contributes to the sociology of diagnosis by outlining how practices of cancer subtyping shape patient experiences of breast cancer. We add to social scientific work attending to the complexities of molecular and genomic techniques by considering the blurring of diagnostic and therapeutic activities from a patient perspective.

show abstract

“…There are 1.5−1.7 million new diagnoses of breast cancer worldwide each year. 1 Breast cancer therapy has been an urgent worldwide issue to be solved due to low treatment efficiency and severe adverse effects of chemotherapeutics, such as cardiotoxity of doxorubicin. As is known to all, mitochondria are a primary factory to supply energy to cells to keep working, and it is a critical tie among many signal pathways involved in cell apoptosis, calcium homeostasis, lipids and amino acids metabolism and so on.…”

mentioning

confidence: 99%

Enhanced Intracellular Ca²⁺ Nanogenerator for Tumor-Specific Synergistic Therapy via Disruption of Mitochondrial Ca²⁺ Homeostasis and Photothermal Therapy

et al. 2018

View full text Add to dashboard Cite

Breast cancer therapy has always been a hard but urgent issue. Disruption of mitochondrial Ca homeostasis has been reported as an effective antitumor strategy, while how to contribute to mitochondrial Ca overload effectively is a critical issue. To solve this issue, we designed and engineered a dual enhanced Ca nanogenerator (DECaNG), which can induce elevation of intracellular Ca through the following three ways: Calcium phosphate (CaP)-doped hollow mesoporous copper sulfide was the basic Ca nanogenerator to generate Ca directly and persistently in the lysosomes (low pH). Near-infrared light radiation (NIR, such as 808 nm laser) can accelerate Ca generation from the basic Ca nanogenerator by disturbing the crystal lattice of hollow mesoporous copper sulfide via NIR-induced heat. Curcumin can facilitate Ca release from the endoplasmic reticulum to cytoplasm and inhibit expelling of Ca in cytoplasm through the cytoplasmic membrane. The in vitro study showed that DECaNG could produce a large amount of Ca directly and persistently to flow to mitochondria, leading to upregulation of Caspase-3, cytochrome c, and downregulation of Bcl-2 and ATP followed by cell apoptosis. In addition, DECaNG had an outstanding photothermal effect. Interestingly, it was found that DECaNG exerted a stronger photothermal effect at lower pH due to the super small nanoparticles effect, thus enhancing photothermal therapy. In the in vivo study, the nanoplatform had good tumor targeting and treatment efficacy via a combination of disruption of mitochondrial Ca homeostasis and photothermal therapy. The metabolism of CaNG was sped up through disintegration of CaNG into smaller nanoparticles, reducing the retention time of the nanoplatform in vivo. Therefore, DECaNG can be a promising drug delivery system for breast cancer therapy.

show abstract

Breast cancers are rare diseases—and must be treated as such

Cited by 13 publications

References 15 publications

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Diagnostic layering: Patient accounts of breast cancer classification in the molecular era

Enhanced Intracellular Ca²⁺ Nanogenerator for Tumor-Specific Synergistic Therapy via Disruption of Mitochondrial Ca²⁺ Homeostasis and Photothermal Therapy

Contact Info

Product

Resources

About

Breast cancers are rare diseases—and must be treated as such

Cited by 13 publications

References 15 publications

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Agreement between results of meta-analyses from case reports and clinical studies, regarding efficacy and safety of idursulfase therapy in patients with mucopolysaccharidosis type II (MPS-II). A new tool for evidence-based medicine in rare diseases

Diagnostic layering: Patient accounts of breast cancer classification in the molecular era

Enhanced Intracellular Ca2+ Nanogenerator for Tumor-Specific Synergistic Therapy via Disruption of Mitochondrial Ca2+ Homeostasis and Photothermal Therapy

Contact Info

Product

Resources

About

Enhanced Intracellular Ca²⁺ Nanogenerator for Tumor-Specific Synergistic Therapy via Disruption of Mitochondrial Ca²⁺ Homeostasis and Photothermal Therapy