scholarly journals Estimating the health benefits of timely diagnosis and treatment of transthyretin amyloid cardiomyopathy

Author(s):  
Mark H Rozenbaum ◽  
Samuel Large ◽  
Rahul Bhambri ◽  
Michelle Stewart ◽  
Robert Young ◽  
...  

Aim: Delayed diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) represents a missed opportunity for intervention. This study estimates the health benefits of timely diagnosis and treatment with tafamidis. Methods: A disease simulation model was developed to predict health outcomes under scenarios of timely and delayed diagnosis and treatment. Efficacy and quality of life (QoL) profiles were derived from the pivotal tafamidis trial and diagnostic delay durations from the literature. Results: Timely diagnosis and treatment were predicted to extend mean life expectancy by 5.46 and 7.76 years, relative to delayed diagnosis, for wild-type and hereditary ATTR-CM, respectively. Corresponding QALY gains were 4.50 and 6.22. Conclusion: Timely diagnosis and treatment with tafamidis are predicted to significantly improve survival and QoL for ATTR-CM patients.

2020 ◽  
Vol 11 (1) ◽  
pp. 18
Author(s):  
Petra Tesarova ◽  
David Pavlista ◽  
Antonin Parizek

The main goal of precision medicine in patients with breast cancer is to tailor the treatment according to the particular genetic makeup and the genetic changes in the cancer cells. Breast cancer occurring during pregnancy (BCP) is a complex and difficult clinical problem. Although it is not very common, both maternal and fetal outcome must be always considered when planning treatment. Pregnancy represents a significant barrier to the implementation of personalized treatment for breast cancer. Tailoring therapy mainly takes into account the stage of pregnancy, the subtype of cancer, the stage of cancer, and the patient’s preference. Results of the treatment of breast cancer in pregnancy are as yet not very satisfactory because of often delayed diagnosis, and it usually has an unfavorable outcome. Treatment of patients with pregnancy-associated breast cancer should be centralized. Centralization may result in increased experience in diagnosis and treatment and accumulated data may help us to optimize the treatment approaches, modify general treatment recommendations, and improve the survival and quality of life of the patients.


2021 ◽  
Vol 11 (1) ◽  
pp. 5-11
Author(s):  
Mirza Sitarevic ◽  
◽  
Leila Begic ◽  
Valentina Misanovic ◽  
◽  
...  

People with intellectual disabilities often face a number of disorders that can impair their health and even endanger their lives. One of these disorders is dysphagia, which is often unrecognized in this population. The main goal of the research was to determine the differences in the severity of dysphagia relation to the degree of intellectual disability in persons placed in institutional accommodation. The study involved 31 respondents diagnosed with intellectual disabilities. The results showed that people with a higher degree of intellectual disability have more pronounced dysphagia. Caregivers of people with intellectual disabilities should be aware of the presence of dysphagia in people with intellectual disabilities, and refer them to a speech-language pathologist in a timely manner with the goal of timely diagnosis and treatment to improve the overall health and quality of life of people of this population.


2020 ◽  
Vol 23 ◽  
pp. S690
Author(s):  
M.H. Rozenbaum ◽  
S. Large ◽  
R. Bhambri ◽  
M. Stewart ◽  
R. Young ◽  
...  

Author(s):  
Ella Polozova ◽  
Vsevolod Skvortsov ◽  
Olga Radaykina ◽  
Mariya Narvatkina ◽  
Anastasiya Seskina ◽  
...  

The widespread prevalence of comorbid pathology determines the relevance of this problem. Comorbid pathology due to the interaction of diseases, drug pathomorphism, age characteristics of the patient, significantly changes clinical picture and course of the main nosology, affects severity of complications and their nature, significantly affects quality of life and prognosis of patients. Diagnosis and treatment of many diseases is complicated in the conditions of comorbidity. The article presents a clinical case of a comorbid patient with arterial hypertension from the moment of exposure to risk factors and ending with the formation of many concomitant diseases, as an example of trans-nosological comorbidity.


2021 ◽  
Vol 53 (5) ◽  
pp. 515-522
Author(s):  
P Raynham

Electric light in buildings may provide some health benefits; however, for most people these benefits are likely to be small. It is possible for electric lighting to cause health problems, if there is too little light or there is glare, but for the most part there is good guidance available and these problems can be avoided. The quality of the lit environment can have a psychological impact and this may in turn impact well-being. A starting point for this is perceived adequacy of illumination. Related lighting metrics are examined and a hypothetical explanation is suggested.


2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Carlo Fusco ◽  
◽  
Vincenzo Leuzzi ◽  
Pasquale Striano ◽  
Roberta Battini ◽  
...  

Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in a complex neurological and non-neurological phenotype, posing diagnostic challenges resulting in diagnostic delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis and treatment is difficult. Additionally, based on the estimated prevalence, the number of undiagnosed patients is likely to be high. Methods Italian experts in AADC deficiency formed a steering committee to engage clinicians in a modified Delphi consensus to promote discussion, and support research, dissemination and awareness on this disorder. Five experts in the field elaborated six main topics, each subdivided into 4 statements and invited 13 clinicians to give their anonymous feedback. Results 100% of the statements were answered and a consensus was reached at the first round. This enabled the steering committee to acknowledge high rates of agreement between experts on clinical presentation, phenotypes, diagnostic work-up and treatment strategies. A research gap was identified in the lack of standardized cognitive and motor outcome data. The need for setting up an Italian working group and a patients’ association, together with the dissemination of knowledge inside and outside scientific societies in multiple medical disciplines were recognized as critical lines of intervention. Conclusions The panel expressed consensus with high rates of agreement on a series of statements paving the way to disseminate clear messages concerning disease presentation, diagnosis and treatment and strategic interventions to disseminate knowledge at different levels. Future lines of research were also identified.


Molecules ◽  
2021 ◽  
Vol 26 (2) ◽  
pp. 384
Author(s):  
Daniel E. Hagaman ◽  
Jossana A. Damasco ◽  
Joy Vanessa D. Perez ◽  
Raniv D. Rojo ◽  
Marites P. Melancon

Patients with advanced prostate cancer can develop painful and debilitating bone metastases. Currently available interventions for prostate cancer bone metastases, including chemotherapy, bisphosphonates, and radiopharmaceuticals, are only palliative. They can relieve pain, reduce complications (e.g., bone fractures), and improve quality of life, but they do not significantly improve survival times. Therefore, additional strategies to enhance the diagnosis and treatment of prostate cancer bone metastases are needed. Nanotechnology is a versatile platform that has been used to increase the specificity and therapeutic efficacy of various treatments for prostate cancer bone metastases. In this review, we summarize preclinical research that utilizes nanotechnology to develop novel diagnostic imaging tools, translational models, and therapies to combat prostate cancer bone metastases.


Cancers ◽  
2021 ◽  
Vol 13 (3) ◽  
pp. 493
Author(s):  
Riccardo Di Fiore ◽  
Sherif Suleiman ◽  
Bridget Ellul ◽  
Sharon A. O’Toole ◽  
Charles Savona-Ventura ◽  
...  

More than 50% of all gynecologic tumors can be classified as rare (defined as an incidence of ≤6 per 100,000 women) and usually have a poor prognosis owing to delayed diagnosis and treatment. In contrast to almost all other common solid tumors, the treatment of rare gynecologic tumors (RGT) is often based on expert opinion, retrospective studies, or extrapolation from other tumor sites with similar histology, leading to difficulty in developing guidelines for clinical practice. Currently, gynecologic cancer research, due to distinct scientific and technological challenges, is lagging behind. Moreover, the overall efforts for addressing these challenges are fragmented across different European countries and indeed, worldwide. The GYNOCARE, COST Action CA18117 (European Network for Gynecological Rare Cancer Research) programme aims to address these challenges through the creation of a unique network between key stakeholders covering distinct domains from concept to cure: basic research on RGT, biobanking, bridging with industry, and setting up the legal and regulatory requirements for international innovative clinical trials. On this basis, members of this COST Action, (Working Group 1, “Basic and Translational Research on Rare Gynecological Cancer”) have decided to focus their future efforts on the development of new approaches to improve the diagnosis and treatment of RGT. Here, we provide a brief overview of the current state-of-the-art and describe the goals of this COST Action and its future challenges with the aim to stimulate discussion and promote synergy across scientists engaged in the fight against this rare cancer worldwide.


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