Rare Disease
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Shyamjeet Maniram Yadav ◽  
Saradindu Bhaduri

AbstractThere are divergent views among scholars and policymakers about the nature of permissible evidence for policymaking. It is often not feasible to construct a policy system exclusively based on objective research findings, particularly for rare diseases where conventionally accepted evidence remains a rarity. Evolutionary theories in such cases offer an overarching framework to represent the various heterodox understandings of what constitutes evidence and how evidence-based policies can be formulated under knowledge uncertainty. We conduct an empirical investigation of India’s rare disease policymaking endeavour in evolutionary perspective. The existing rare diseases policy architecture in India, in our view, reflects a ‘rationalistic’ framework. It intends to act only on ‘hard evidence’ to make, what may be called, an optimum decision, rather than initiating a ‘good enough’ policy decision based on existing (limited, soft) evidence and improving it incrementally through learning and trial-and-error. Our findings suggest that in the presence of ‘evidentiary vacuum’ and knowledge uncertainty, broadening the contours of epistemic communities, to include ‘lived experiences’ of the ‘lay’-stakeholders, can be effective in formulating an adaptive policy framework, which would ‘learn’ to better fit with the dynamic environment through inclusive deliberations, and trial-and-error.

2021 ◽  
Vol 16 (1) ◽  
D. Druschke ◽  
F. Krause ◽  
G. Müller ◽  
J. Scharfe ◽  
G. F. Hoffmann ◽  

Abstract Background The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National Plan of Action for People with Rare Diseases establishing better care structures. As primary care physicians, general practitioners and pediatricians play a central role in the diagnosis of patients with rare disease, as it is usually them referring to specialists and rare disease centers. Therefore, the interface management between primary care physicians and the centers for rare diseases is of particular importance. Methods In a mixed-method-approach an anonymous postal survey of 1,500 randomly selected primary care physicians in Germany was conducted with focus on (1) knowledge about a center for rare diseases and how it works, (2) in case of cooperation, satisfaction with the services provided by centers, and (3) expectations and needs they have with regard to the centers. In addition, in-depth telephone interviews were conducted with physicians who had already referred patients to a center. Results In total, 248 physicians responded to the survey, and 15 primary care physicians were interviewed. We observed a wide lack of knowledge about the existence of (45.6% confirmed to know at least one center) about how to access rare disease centers (50.4% of those who know a center confirmed knowledge) and what the center specializes in. In case of cooperation the evaluation was mostly positive. Conclusion To improve medical care, the interplay between primary care physicians and rare disease centers needs to be strengthened. (1) To improve the communication, the objectives and functioning of the rare disease centers should become more visible. (2) Other projects dealing with the analysis and improvement of interface management between centers and primary care physicians, as described in the National Plan of Action for People with Rare Diseases, need to be implemented immediately. (3) If the project is evaluated positively, the structures of TRANSLATE-NAMSE should be introduced nationwide into the German health care system to ensure comprehensive, quality-assured care for people with rare diseases with special consideration of the key role of primary care physicians—also taking into account the financial expenditures of this new care model.

Selene Valero-Moreno ◽  
Laura Lacomba-Trejo ◽  
Inmaculada Montoya-Castilla ◽  
Marian Pérez-Marín

AbstractCystic fibrosis (CF) is a rare disease that severely compromises health and interferes with the lives of those who suffer from it and is especially challenging in adolescence. The use of tools such as MHealth may benefit the physical and psychological health of adolescents with CF. Therefore, this study aims to examine the benefits of MHealth in adolescents with CF through a systematic review. A search of the scientific literature following the PRISMA guidelines was conducted in the ProQuest Central, PubMed, Web Of Science, Embase and ínDICE databases, resulting in 186 studies, of which seven were selected (based on inclusion and exclusion criteria). Two blinded evaluators conducted the searches, the selection and data extraction process and the quality evaluation of the studies. The agreement between evaluators was excellent in all cases (Kappa ranged from .78 to .96). 214 pediatric CF patients (61.71% female) participated in the final analysis. The mean age was 12.76 years. The studies evaluated different types of mHealth tools, with greater homogeneity in the independent and dependent variables. The quality of the studies analyzed was poor, since these had small samples selected for convenience, conducted non-experimental and low-quality designs, recorded few variables, and their statistical analyses were not sufficiently robust. Further research is needed in this field, improving research designs and considering physical and psychological adjustment variables, as well as patients and family members in the process of health improvement.

Brain & Life ◽  
2021 ◽  
Vol 17 (6) ◽  
pp. 9-9
Wayne Schenet

2021 ◽  
Vol 8 (12) ◽  
pp. 1980
Ramakrishna Myathari ◽  
Anand Gupta

X-linked agammaglobulinemia (XLA) is a rare disorder, characterized by absence of mature B cells leading to severe antibodies deficiency. This translates to recurrent sinopulmonary infections in affected children. The most common age group of presentation is 6 months to 2 years. Being an X-linked recessive disorder males are affected, females are carriers. Intravenous immunoglobulins and antibiotics remains the corner stone of treatment. Here in, we report a case of 11-year-old male having recurrent episodes of fever with one episode of hospitalization 3 years back. Child was treated at healthcare facility elsewhere for recurrent fever. He presented to our institute with signs and symptoms suggestive of meningitis, investigated, had culture proven Staphylococcus aureus meningitis with a low Absolute Lymphocyte Count (ALC). On further work up found to have low serum immunoglobulins (IgG, IgM, IgA) and Flowcytometry showing absence of B cells (CD19/CD20). Child was diagnosed to have XLA. This case highlights the importance of having strong clinical suspicion of XLA, despite not having recurrent sinopulmonary infections.

JAMA ◽  
2021 ◽  
Vol 326 (20) ◽  
pp. 2003
Rita Rubin

L. Alimkhodjaeva ◽  
M. Norbekova

Breast cancer in men is a rare disease, accounting for approximately 0.1% of all malignant breast tumors in men and from 0.6% to 1% of all malignant breast tumors. The incidence of breast cancer in men increases with age for unknown reasons: the average age of men at the time of diagnosis is 67 years, compared with women, whose similar indicator is 57 years. Despite advances in the diagnostics and treatment of breast cancer in women, understanding and strategy for the treatment of breast cancer in men are limited and generally extrapolated from existing knowledge about breast cancer in women. In particular, the molecular subtypes of breast cancer in men have not been studied, although these subtypes have been associated with both biological and clinical features of breast cancer in women. It has been proven that molecular subtypes have an important prognostic value in breast cancer in women. Molecular assessment of tumors plays a significant role in the 22 prescriptions of adjuvant chemotherapy, and therefore the role of genetic testing increases.

Raveena Bhambra ◽  
DealForma, LLC

PET Clinics ◽  
2022 ◽  
Vol 17 (1) ◽  
pp. 13-29
Navid Hasani ◽  
Faraz Farhadi ◽  
Michael A. Morris ◽  
Moozhan Nikpanah ◽  
Arman Rhamim ◽  

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