scholarly journals Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach

10.52586/5056 ◽  
2021 ◽  
Vol 26 (12) ◽  
pp. 1627-1642
Author(s):  
Gioena Pampalone ◽  
Silvia Grottelli ◽  
Leonardo Gatticchi ◽  
Emilia Maria Lombardi ◽  
Ilaria Bellezza ◽  
...  
Uro ◽  
2021 ◽  
Vol 1 (1) ◽  
pp. 14-22
Author(s):  
Tommaso Cai ◽  
Paolo Verze ◽  
Truls E. Bjerklund Johansen

The quality of life (QoL) concept now includes new aspects related to patients’ well-being because QoL has become more of a personal perception than an an objective and measurable entity. Here, we discuss the principal aspects of QoL-related aspects in urology and andrology by using a narrative review. Some aspects concerning the QoL are essential when managing uro-andrological patients. The aim of treatments should not only include the absence of disease or symptoms relief but also the improvement of a patient’s QoL with regard to his/her internal status and relationship with others. In this sense, any therapeutic approach should be based on the patient’s perspectives and not only on the instrumental and laboratory findings. Finally, we discussed the role of a patient’s sexual partner adding an extra dimension to the patient-centerd approach as part of the QoL concept in andrology.


Renal Failure ◽  
2001 ◽  
Vol 23 (3-4) ◽  
pp. 533-541 ◽  
Author(s):  
Luigi Moriconi ◽  
Ciro Lenti ◽  
Rodolfo Puccini ◽  
Antonio Pasquariello ◽  
Paolo Rindi ◽  
...  

2021 ◽  
Vol 10 ◽  
pp. 216495612110580
Author(s):  
Juan Yang ◽  
Alex Do ◽  
Molly J Mallory ◽  
Dietlind L Wahner-Roedler ◽  
Tony Y Chon ◽  
...  

Anxiety is highly reported during the COVID-19 pandemic. The use of acupressure for anxiety is a common practice in integrative medicine, and previous literature has shown that acupressure can be an effective and feasible alternative treatment for decreasing anxiety. Given the social distancing requirements during the COVID-19 pandemic, it appears reasonable to assume that acupressure may be especially suited to treat anxiety under these circumstances. However, there has been relatively little reported use of acupressure for anxiety during the pandemic. This viewpoint aims to highlight the possible role of acupressure as a self-administered therapeutic approach for anxiety amidst the COVID-19 pandemic and to outline key areas for future research.


Author(s):  
Thomas Marjot

This chapter covers core curriculum topics relating to disorders of the oesophagus. A diagnostic and therapeutic approach to symptoms of gastro-oesophageal reflux disease is covered including physiology testing and the role of anti-reflux surgery. Other benign conditions causing dysphagia and chest pain are presented incorporating disorders of motility, infections, and the management of eosinophilic oesophagitis and oesophageal stricturing. Coverage is given to the investigation and management of patients with foreign body or caustic substance ingestions. There is particular focus on the investigation and management of oesophageal malignancy including in palliative stages, along with the various stages of Barret’s oesophagus. This includes diagnostic features, surveillance intervals and management of dysplasia associated with Barrett’s. Additional curriculum material regarding disorders of the oesophagus will also be covered in the mock examination chapter.


2019 ◽  
Vol 42 (8) ◽  
pp. 488-489
Author(s):  
Armando Peixoto ◽  
Rui Morais ◽  
Aitor Lanas-Gimeno ◽  
Teresa Pérez-Fernandez ◽  
Sergio Casabona-Francés ◽  
...  

1980 ◽  
Vol 25 (3) ◽  
pp. 187-195 ◽  
Author(s):  
Z. Ballogh ◽  
K. Whaley

Hereditary angio-oedema is a genetically-determined disease. Usually the disease is due to a deficiency of CĪ inhibitor or less commonly to the production of a functionally inactive molecule. The pathogenesis and clinical features of the disease are reviewed, and discussed in relation to the homeostatic role of CĪ inhibitor. Finally the therapeutic approach to the disease is described and the scientific bases for the newer therapeutic regimes discussed.


2018 ◽  
Vol 47 (2) ◽  
pp. 721-734 ◽  
Author(s):  
Yinghao Zhao ◽  
Wei Yang ◽  
Yuanyuan Huang ◽  
Ranji Cui ◽  
Xiangyan Li ◽  
...  

Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is a membrane glycoprotein expressed by activated effector T cells (Teffs) and participates in the repression of T cell proliferation, cell cycle progression and cytokine production. Currently, antibodies targeting CTLA-4, ipilimumab and tremelimumab are widely used as a therapeutic approach in a variety of human malignancies. However, their detailed mechanism remains unclear. Therefore, in this review, we focused specifically on recent findings concerning the role of CTLA-4 in immune response and also discussed clinical studies of targeting CTLA-4, alone or in combination with other therapies for the treatment of cancers. CTLA-4 blockade is used as a therapeutic approach for the treatment of cancer through competing with CD28-positive costimulation for binding to their shared B7 ligands or exhibiting direct inhibitory effect on signaling molecules in the cytoplasmic tail. At present, antibodies for targeting CTLA-4 or in combination with other therapies significantly reinforced the anti-tumor effect and improved the prognosis of malignant disease. In addition, severe adverse events of targeting CTLA-4 therapy could be a challenge for the development of this therapeutic strategy. This review may provide some new insights for clinical studies of targeting CTLA-4.


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