scholarly journals Oculo-auriculo-vertebral spectrum associated to progressive external ophthalmoplegia. Biological, laboratory, electrophysiological and clinical aspects

2018 ◽  
Vol 91 (1) ◽  
Author(s):  
Agostino Berio ◽  
Giacomo Garlaschi ◽  
Gian Luigi Mariottini ◽  
Enrico Calcagno ◽  
Attilia Piazzi
Keyword(s):  
Electron Transport ◽  
Autosomal Dominant ◽  
Laboratory Data ◽  
Clinical Signs ◽  
Progressive External Ophthalmoplegia ◽  
Clinical Aspects ◽  
Transport Chain ◽  
The Family ◽  
Pyruvate Ratio

The authors discuss about the relationships between oculoauriculo- vertebral spectrum (OAVS), a malformative condition affecting eyes, ears and vertebral structures mainly derived from neural crests, and autosomal dominant progressive external ophthalmoplegia (adPEO) – an electron transport chain disorder characterized by palpebral ptosis and muscular symptoms – on the basis of laboratory data and clinical signs in a case belonging to a family in which symptoms of both diseases occur. Hemifacial microsomia and ears abnormalities were the main neural crest cells (NCC) derived signs for OAVS diagnosis. Palpebral ptosis and the associated hyperlactacidemia with high Lactate to Pyruvate ratio were main signs for the suspicion of adPEO, but the diagnosis was proposed by clinical, biochemical, electrophysiological and genetic methods because the biopsy not always is diagnostic, as in our case. The association of two groups of symptoms (malformed, NCCrelated, and myopatic-electron transport related) in the same subject as observed in our case and partially in the family, may be ascribed to nuclear abnormalities and mitochondrial electron transport disorder, respectively, as well as to a possible common etiopathogenetic mechanism. In some cases of OAVS, the malformations may be consequent to oxidative phosphorilation disease (OXPHOS) derangement, as previously demonstrated; the extensive determination of lactacidemia may be important to address the research on OAVS patients in the mitochondrial/OXPHOS genetic domain, with advantage in the knowledge of OAVS pathogenesis.

scholarly journals Hormetic and Mitochondria-Related Mechanisms of Antioxidant Action of Phytochemicals

Antioxidants ◽  
2019 ◽  
Vol 8 (9) ◽  
pp. 373 ◽  
Author(s):  
Franco ◽  
Navarro ◽  
Martínez-Pinilla
Keyword(s):  
Electron Transport ◽  
Health Benefit ◽  
Well Being ◽  
Antioxidant Action ◽  
Direct Role ◽  
Physiological Conditions ◽  
Technical Developments ◽  
Transport Chain ◽  
Living Being

Antioxidant action to afford a health benefit or increased well-being may not be directly exerted by quick reduction-oxidation (REDOX) reactions between the antioxidant and the pro-oxidant molecules in a living being. Furthermore, not all flavonoids or polyphenols derived from plants are beneficial. This paper aims at discussing the variety of mechanisms underlying the so-called “antioxidant” action. Apart from antioxidant direct mechanisms, indirect ones consisting of fueling and boosting innate detox routes should be considered. One of them, hormesis, involves upregulating enzymes that are needed in innate detox pathways and/or regulating the transcription of the so-called vitagenes. Moreover, there is evidence that some plant-derived compounds may have a direct role in events taking place in mitochondria, which is an organelle prone to oxidative stress if electron transport is faulty. Insights into the potential of molecules able to enter into the electron transport chain would require the determination of their reduction potential. Additionally, it is advisable to know both the oxidized and the reduced structures for each antioxidant candidate. These mechanisms and their related technical developments should help nutraceutical industry to select candidates that are efficacious in physiological conditions to prevent diseases or increase human health.

scholarly journals A Novel Heterozygous Pathogenic Variation in CYCS Gene Cause Autosomal Dominant Non-Syndromic Thrombocytopenia 4 in a Large Chinese Family

2022 ◽  
Vol 12 ◽  
Author(s):  
Fengyu Che ◽  
Jiangang Zhao ◽  
Yujuan Zhao ◽  
Zhi Wang ◽  
Liyu Zhang ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Dominant ◽  
Family Members ◽  
Clinical Signs ◽  
Missense Variant ◽  
Chinese Family ◽  
Whole Exome ◽  
The Family

Aim: To determine the etiology of a Chinese family with thrombocytopenia by analyzing the clinical features and genetic variation.Methods: Clinical profiles and genomic DNA extracts of the family members were collected for the study. Whole exome sequencing and Sanger sequencing was used to detect the associated genetic variation and verify the family co-segregation respectively. Bioinformatics analysis assessed the pathogenicity of missense mutations.Results: The study reported a 3-generation pedigree including eight family members with thrombocytopenia. The platelet counts of the patients were varied, ranging from 38 to 110 × 109/L (reference range: 150–450 x 109/L). The mean volumes and morphology of the sampled platelet were both normal. The bleeding abnormality and mitochondriopathy were not observed in all the patients. Clinical signs of thrombocytopenia were mild. A novel heterozygous missense variant c.79C > T (p.His27Tyr) was identified in CYCS gene associated with autosomal dominant thrombocytopenia.Conclusion: We report the first large family with autosomal dominant non-syndromic thrombocytopenia 4 in a Chinese family, a novel heterozygous missense variant c.79C > T (p.His27Tyr) was identified. The whole exome sequencing is an efficient tool for screening the variants specifically associated with the disease. The finding enriches the mutation spectrum of CYCS gene and laid a foundation for future studies on the correlation between genotype and phenotype.

Role of the family focused technologies in the clinical course of pregnancy at women of high obstetric risk

2016 ◽  
pp. 64-66
Author(s):  
S.Yu. Vdovichenko ◽  
Keyword(s):  
Comparison Group ◽  
Traditional Approach ◽  
Married Couple ◽  
Premature Births ◽  
Individual Support ◽  
The Family ◽  
Risk Patients ◽  
Individual Preparation

The objective: to show a role of the family focused technologies in depression of frequency of pathology of pregnancy at women of high obstetric risk. Patients and methods. For determination of efficiency of prophylaxis of pathology of pregnancy on the basis of use of the family focused technologies complex clinical-psychological and laboratory and tool examination of 300 women with factors of obstetric risk which were divided into two groups was conducted. In the main group – 182 women with motivation on partner labors to which provided training on system of individual preparation of married couple to labors. The comparison group consisted of 118 women who were not in prenatal training and had individual support in childbirth, with the traditional approach to pain management. Results. Use of the family focused technologies during pregnancy allows to reduce significantly the frequency of the main complications of pregnancy, especially not incubation and premature births. Conclusion. In our opinion, the technique is simple, available and can widely be used in practical health care at women with high obstetric risk. Key words: obstetric risk, the family focused technologies, prophylaxis.

PDO Rotonda’s Red Eggplant Extract: In vitro Determination of Biological Properties and Minerals Bioaccessibility

2020 ◽  
Vol 16 (1) ◽  
pp. 65-74
Author(s):  
Ortensia Ilaria Parisi ◽  
Mariarosa Ruffo ◽  
Fabio Amone ◽  
Rocco Malivindi ◽  
Domenico Gorgoglione ◽  
...  
Keyword(s):  
Control Sample ◽  
Specific Area ◽  
Biological Properties ◽  
Ammonium Molybdate ◽  
Antihypertensive Activity ◽  
Protected Designation Of Origin ◽  
The Family ◽  
Oil Red O Staining

Background: The Rotonda’s Red Eggplant belongs to the family of Solanum aethiopicum and it is cultivated in a specific area of Potenza (Basilicata, South of Italy) including villages of Rotonda, Viggianello, Castelluccio Superiore and Castelluccio Inferiore. The Red Eggplant cultivated in this area has gained the PDO, “Protected Designation of Origin”. Objective: The aim of this research was to evaluate the use of PDO Rotonda’s Red Eggplant extract as a possible nutraceutical supplement. The antioxidant, antihypertensive, hypoglycemic, and hypolipidemic properties were in vitro evaluated. Methods: The antioxidant activity was investigated by evaluating the scavenging properties against 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 2,2-Azinobis-(3-ethylbenzothiazoline-6-sulfonic acid) (ABTS) radicals and by performing the Ammonium Molybdate and Folin-Ciocalteu assay. The hypoglycemic and antihypertensive activity was studied by evaluating the α-Amylase, α-Glucosidase and Angiotensin Converting Enzyme, respectively, inhibiting activity. In order to evaluate the hypolipidemic activity, the pancreatic lipase inhibiting property was determined and Oil Red O staining assay was performed. Finally, to evaluate the possible use of this extract as a minerals supplement, Selenium, Potassium and Chrome bioaccessibility was studied. Results: The obtained results underline the good antioxidant, hypoglycemic, antihypertensive and hypolipidemic in vitro properties of the PDO Rotonda’s Red Eggplant extract. Moreover, the obtained data show a higher minerals bioaccessibility and this higher value could be ascribable to the natural phytocomplex of PDO Rotonda’s Red Eggplant, which increases the minerals bioaccessibility if compare it with a control sample. Conclusion: The obtained results show that PDO Rotonda’s Red Eggplant extract, might be used as a possible nutraceutical supplement, along with traditional therapies, both for its biological properties and for its minerals bioaccessibility value.

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