scholarly journals Wilson’s Disease: Facing the Challenge of Diagnosing a Rare Disease

Biomedicines ◽  
2021 ◽  
Vol 9 (9) ◽  
pp. 1100
Author(s):  
Ana Sánchez-Monteagudo ◽  
Edna Ripollés ◽  
Marina Berenguer ◽  
Carmen Espinós
Keyword(s):  
Early Diagnosis ◽  
Biliary Excretion ◽  
Clinical Picture ◽  
Wilson Disease ◽  
Specific Treatment ◽  
Genetic Data ◽  
New Drugs ◽  
Diagnosis And Prognosis ◽  
Gradual Accumulation

Wilson disease (WD) is a rare disorder caused by mutations in ATP7B, which leads to the defective biliary excretion of copper. The subsequent gradual accumulation of copper in different organs produces an extremely variable clinical picture, which comprises hepatic, neurological psychiatric, ophthalmological, and other disturbances. WD has a specific treatment, so that early diagnosis is crucial to avoid disease progression and its devastating consequences. The clinical diagnosis is based on the Leipzig score, which considers clinical, histological, biochemical, and genetic data. However, even patients with an initial WD diagnosis based on a high Leipzig score may harbor other conditions that mimic the WD’s phenotype (Wilson-like). Many patients are diagnosed using current available methods, but others remain in an uncertain area because of bordering ceruloplasmin levels, inconclusive genetic findings and unclear phenotypes. Currently, the available biomarkers for WD are ceruloplasmin and copper in the liver or in 24 h urine, but they are not solid enough. Therefore, the characterization of biomarkers that allow us to anticipate the evolution of the disease and the monitoring of new drugs is essential to improve its diagnosis and prognosis.

scholarly journals Recent Discoveries of Macromolecule- and Cell-Based Biomarkers and Therapeutic Implications in Breast Cancer

2021 ◽  
Vol 22 (2) ◽  
pp. 636
Author(s):  
Hsing-Ju Wu ◽  
Pei-Yi Chu
Keyword(s):  
Breast Cancer ◽  
Normal Breast ◽  
New Drugs ◽  
Cancer Type ◽  
Luminal A ◽  
Luminal B ◽  
Therapeutic Implications ◽  
Whole Cells ◽  
Diagnosis And Prognosis ◽  
Novel Biomarkers

Breast cancer is the most commonly diagnosed cancer type and the leading cause of cancer-related mortality in women worldwide. Breast cancer is fairly heterogeneous and reveals six molecular subtypes: luminal A, luminal B, HER2+, basal-like subtype (ER−, PR−, and HER2−), normal breast-like, and claudin-low. Breast cancer screening and early diagnosis play critical roles in improving therapeutic outcomes and prognosis. Mammography is currently the main commercially available detection method for breast cancer; however, it has numerous limitations. Therefore, reliable noninvasive diagnostic and prognostic biomarkers are required. Biomarkers used in cancer range from macromolecules, such as DNA, RNA, and proteins, to whole cells. Biomarkers for cancer risk, diagnosis, proliferation, metastasis, drug resistance, and prognosis have been identified in breast cancer. In addition, there is currently a greater demand for personalized or precise treatments; moreover, the identification of novel biomarkers to further the development of new drugs is urgently needed. In this review, we summarize and focus on the recent discoveries of promising macromolecules and cell-based biomarkers for the diagnosis and prognosis of breast cancer and provide implications for therapeutic strategies.

scholarly journals Identification and Characterization of Multiple Myeloma Stem Cell-Like Cells

Cancers ◽  
2021 ◽  
Vol 13 (14) ◽  
pp. 3523
Author(s):  
Wancheng Guo ◽  
Haiqin Wang ◽  
Peng Chen ◽  
Xiaokai Shen ◽  
Boxin Zhang ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Drug Resistance ◽  
Stem Cell ◽  
New Drugs ◽  
Cell Therapies ◽  
High Relapse Rate ◽  
High Incidence ◽  
Poorly Differentiated ◽  
Identification And Characterization

Multiple myeloma (MM) is a B-cell tumor of the blood system with high incidence and poor prognosis. With a further understanding of the pathogenesis of MM and the bone marrow microenvironment, a variety of adjuvant cell therapies and new drugs have been developed. However, the drug resistance and high relapse rate of MM have not been fundamentally resolved. Studies have shown that, in patients with MM, there is a type of poorly differentiated progenitor cell (MM stem cell-like cells, MMSCs). Although there is no recognized standard for identification and classification, it is confirmed that they are closely related to the drug resistance and relapse of MM. This article therefore systematically summarizes the latest developments in MMSCs with possible markers of MMSCs, introduces the mechanism of how MMSCs work in MM resistance and recurrence, and discusses the active pathways that related to stemness of MM.

scholarly journals Insights into Mycobacterium leprae Proteomics and Biomarkers—An Overview

Proteomes ◽  
2021 ◽  
Vol 9 (1) ◽  
pp. 7
Author(s):  
Sakshi Gautam ◽  
Devesh Sharma ◽  
Anjana Goel ◽  
Shripad A. Patil ◽  
Deepa Bisht
Keyword(s):  
Early Diagnosis ◽  
Causative Agent ◽  
Mycobacterium Leprae ◽  
Pivotal Role ◽  
New Biomarkers ◽  
Shed Light

Although leprosy is curable, the identification of biomarkers for the early diagnosis of leprosy would play a pivotal role in reducing transmission and the overall prevalence of the disease. Leprosy-specific biomarkers for diagnosis, particularly for the paucibacillary disease, are not well defined. Therefore, the identification of new biomarkers for leprosy is one of the prime themes of leprosy research. Studying Mycobacterium leprae, the causative agent of leprosy, at the proteomic level may facilitate the identification, quantification, and characterization of proteins that could be potential diagnostics or targets for drugs and can help in better understanding the pathogenesis. This review aims to shed light on the knowledge gained to understand leprosy or its pathogen employing proteomics and its role in diagnosis.

scholarly journals Antiangiogenic potential of Jatropha curcas latex in the chick chorioallantoic membrane model

2019 ◽  
Vol 29 (1) ◽  
pp. 32157
Author(s):  
Luciane Madureira Almeida ◽  
Elisa Flávia Luiz Cardoso Bailão ◽  
Illana Reis Pereira ◽  
Fabrício Alves Ferreira ◽  
Patrícia Lima D'Abadia ◽  
...  
Keyword(s):  
Thermal Stability ◽  
Jatropha Curcas ◽  
Physicochemical Characterization ◽  
Chorioallantoic Membrane ◽  
Angiogenesis Inhibitor ◽  
Negative Control ◽  
New Drugs ◽  
Membrane Model ◽  
Chick Chorioallantoic Membrane

AIMS: To perform a physicochemical and phytochemical characterization of Jatropha curcas latex and to investigate its antiangiogenic potential. METHODS: We performed an initial physicochemical characterization of J. curcas latex using thermal gravimetric analyses and Fourier Transform Infrared spectroscopy. After that, phenols, tannins and flavonoids were quantified. Finally, the potential of J. curcas latex to inhibit angiogenesis was evaluated using the chick chorioallantoic membrane model. Five groups of 20 fertilized chicken eggs each had the chorioallantoic membrane exposed to the following solutions: (1) water, negative control; (2) dexamethasone, angiogenesis inhibitor; (3) Regederm®, positive control; (4) 25% J. curcas latex diluted in water; (5) 50% J. curcas latex diluted in water; and (6) J. curcas crude latex. Analysis of the newly-formed vascular net was made through captured images and quantification of the number of pixels. Histological analyses were performed to evaluate the inflammation, neovascularization, and hyperemia parameters. The results were statically analyzed with a significance level set at p ˂0.05.RESULTS: Physicochemical characterization showed that J. curcas latex presented a low amount of cis-1.4-polyisoprene, which reduced its elasticity and thermal stability. Phytochemical analyses of J. curcas latex identified a substantial amount of phenols, tannins, and flavonoids (51.9%, 11.8%, and 0.07% respectively). Using a chick chorioallantoic membrane assay, we demonstrated the antiangiogenic potential of J. curcas latex. The latex induced a decrease in the vascularization of the membranes when compared with neutral and positive controls (water and Regederm®). However, when compared with the negative control (dexamethasone), higher J. curcas latex concentrations showed no significant differences.CONCLUSIONS: J. curcas latex showed low thermal stability, and consisted of phenols, tannins, and flavonoids, but little or no rubber. Moreover, this latex demonstrated a significant antiangiogenic activity on a chick chorioallantoic membrane model. The combination of antimutagenic, cytotoxic, antioxidant and antiangiogenic properties makes J. curcas latex a potential target for the development of new drugs.

Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

Protein biomarkers in breast cancer-derived extracellular vesicles for use in liquid biopsies

2021 ◽  
Author(s):  
Dan Li ◽  
Wenjia Lai ◽  
Di Fan ◽  
Qiaojun Fang
Keyword(s):  
Breast Cancer ◽  
Early Diagnosis ◽  
Extracellular Vesicles ◽  
Liquid Biopsy ◽  
Breast Cancer Diagnosis ◽  
Extracellular Vesicle ◽  
Detection Methods ◽  
Protein Markers ◽  
Liquid Biopsies ◽  
Diagnosis And Prognosis

Breast cancer is the most common malignant disease in women worldwide. Early diagnosis and treatment can greatly improve the management of breast cancer. Liquid biopsies are becoming convenient detection methods for diagnosing and monitoring breast cancer due to their non-invasiveness and ability to provide real-time feedback. A range of liquid biopsy markers, including circulating tumor proteins, circulating tumor cells, and circulating tumor nucleic acids, have been implemented for breast cancer diagnosis and prognosis, with each having its own advantages and limitations. Circulating extracellular vesicles are messengers of intercellular communication that are packed with information from mother cells and are found in a wide variety of bodily fluids; thus, they are emerging as ideal candidates for liquid biopsy biomarkers. In this review, we summarize extracellular vesicle protein markers that can be potentially used for the early diagnosis and prognosis of breast cancer or determining its specific subtypes.

Ratiometric fluorescence analysis for miR-141 detection with hairpin DNA-templated silver nanoclusters

2021 ◽  
Author(s):  
Meiqing Liu ◽  
Ren Shen ◽  
Haoran Li ◽  
Yanwei Jia ◽  
Pui-In Mak ◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Fluorescence Analysis ◽  
Silver Nanoclusters ◽  
Ratiometric Fluorescence ◽  
Hairpin Dna ◽  
Robust Detection ◽  
Diagnosis And Prognosis

MicroRNAs (miRNAs) are important biomarkers for diseases diagnosis and prognosis. Accurate and robust detection of miRNAs greatly facilitates the early diagnosis and progress assessment of certain cancers. The current miRNAs...

Cardiomyopathies in the clinical picture of emergency cardiology

1998 ◽  
Vol 79 (1) ◽  
pp. 23-27
Author(s):  
I. A. Latfullin ◽  
O. V. Bogoyavlenskaya
Keyword(s):  
Differential Diagnosis ◽  
Early Diagnosis ◽  
Transesophageal Echocardiography ◽  
Clinical Picture

The peculiarities of the clinical picture and diagnosis of uncoronarogenic lesions of the myocardium in a period of 5 years are studied. The differential diagnosis of cardiomyopathies and myocardial dystrophies is performed, emphasizing the informativity of contrast and transesophageal echocardiography. Registration of electrocardiographic and echocardiographic data allows to choose among patients the persons demanding the expanding cardiologic examination that provides early diagnosis of latent forms of cardiomyopathies.

scholarly journals Mutation analysis and characterization of alternative splice variants of the Wilson disease gene ATP7B

Hepatology ◽  
2010 ◽  
Vol 52 (5) ◽  
pp. 1662-1670 ◽  
Author(s):  
Lei Wan ◽  
Chang-Hai Tsai ◽  
Chin-Moo Hsu ◽  
Chin-Chang Huang ◽  
Chih-Chao Yang ◽  
...  
Keyword(s):  
Alternative Splice ◽  
Mutation Analysis ◽  
Wilson Disease ◽  
Disease Gene ◽  
Splice Variants ◽  
Alternative Splice Variants

scholarly journals Environ-Economic Synthesis and Characterization of Some New 1,2,4-Triazole Derivatives as Organic Fluorescent Materials and Potent Fungicidal Agents

2013 ◽  
Vol 2013 ◽  
pp. 1-19 ◽  
Author(s):  
Harshita Sachdeva ◽  
Rekha Saroj ◽  
Sarita Khaturia ◽  
Diksha Dwivedi
Keyword(s):  
Aromatic Aldehydes ◽  
New Drugs ◽  
Fluorescence Study ◽  
One Pot ◽  
Triazole Derivatives ◽  
Fluorescent Materials ◽  
Cyclocondensation Reaction ◽  
Practical Tool ◽  
High Yields

A multicomponent one-pot clean cyclocondensation reaction of 4-chloro-2-nitro aniline/amino acids and aromatic aldehydes/indole-2,3-diones with thiosemicarbazide in water yielding triazole/spiro indole-triazole derivatives in high yields and shorter reaction time and displaying excellent florescent property is reported. The developed MCR may provide a valuable practical tool for the synthesis of new drugs containing the title core fragment. All the newly synthesized compounds have been characterized by IR, 1HNMR, 13CNMR, and fluorescence study and also been screened for antimicrobial activity.

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