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1.
Biomed Rep ; 18(1): 5, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36544856

RESUMO

Huntington's disease (HD) is a neurodegenerative disorder characterized by severe motor, cognitive and psychiatric symptoms. Patients of all ages can present with a dysfunction of the nervous system, which leads to the progressive loss of movement control and disabilities in speech, swallowing, communications, etc. The molecular basis of the disease is well-known, as HD is related to a mutated gene, a trinucleotide expansion, which encodes to the huntingtin protein. This protein is linked to neurogenesis and the loss of its function leads to neurodegenerative disorders. Although the genetic cause of the disorder has been known for decades, no effective treatment is yet available to prevent onset or to eliminate the progression of symptoms. Thus, the present review focused on the development of novel methods for the timely and accurate diagnosis of HD in an aim to aid the development of therapies which may reduce the severity of the symptoms and control their progression. The majority of the therapies include gene-silencing mechanisms of the mutated huntingtin gene aiming to suppress its expression, and the use of various substances as drugs with highly promising results. In the present review, the latest approaches on the diagnosis of HD are discussed along with the need for genetic counseling and an up-to-date presentation of the applied treatments.

2.
Oncol Lett ; 22(6): 856, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-34777590

RESUMO

The COVID-19 pandemic has complicated current healthcare services for cancer patients. Patients with haematological malignancies specifically seem vulnerable to SARS-CoV-2 infection due to their immunosuppressed status. The COVID-19 pandemic influences every step of the assessment and treatment of a haematological malignancy. Clinicians must adhere to strict policies to not spread the virus to their patients while they must also adjust their workflow for maximum productivity. These difficulties accentuate the ever-present need to improve the healthcare services for cancer patients. This improvement is needed not only to combat the problems that arose from the COVID-19 pandemic but also to establish a framework for the management of patients with haematological malignancies in potential future pandemics.

3.
FEMS Microbiol Lett ; 366(1)2019 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-30476146

RESUMO

2,3-Butanediol (BDO) is an important platform chemical with a wide range of applications in various industries. In the present study, a newly isolated wild Enterobacter sp. strain (FMCC-208) was evaluated towards its ability to produce BDO on media composed of sugars derived from sucrose refinery plant. Optimum values of temperature and pH as well as substrate inhibition were determined through batch experiments. The ability of the strain to convert various monosaccharides was also investigated. Maximum BDO concentrations of 90.3 and 10 g l-1 of acetoin were obtained during a fed-batch bioreactor experiment with cane molasses and sucrose employed as substrates. A high volumetric productivity was noted in a fed-batch experiment using molasses and sucrose as carbon sources at T = 37°C, in which 73.0 g l-1 of BDO together with 12.4 g l-1 of acetoin was produced where 1.15 g l-1 h-1 of diol/acetoin was produced. In previously pasteurized media, 70.0 g l-1 of BDO and 5.0 g l-1 of acetoin were produced (yield = 0.39 g g-1). Finally, besides BDO production, growth on molasses was accompanied by non-negligible decolorization (25-35%) of the residue. Therefore, the strain is a promising candidate for the conversion of sucrose-based materials into BDO.


Assuntos
Butileno Glicóis/metabolismo , Metabolismo dos Carboidratos , Meios de Cultura/química , Enterobacter/metabolismo , Reatores Biológicos , Carboidratos/química , Meios de Cultura/economia , Enterobacter/crescimento & desenvolvimento , Concentração de Íons de Hidrogênio , Temperatura
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