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Keywords = Behr disease

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9 pages, 869 KiB  
Review
IgY Antibodies as Biotherapeutics in Biomedicine
by Diana León-Núñez, María Fernanda Vizcaíno-López, Magdalena Escorcia, Dolores Correa, Elizabeth Pérez-Hernández and Fernando Gómez-Chávez
Antibodies 2022, 11(4), 62; https://doi.org/10.3390/antib11040062 - 29 Sep 2022
Cited by 21 | Viewed by 9290
Abstract
Since the discovery of antibodies by Emil Von Behring and Shibasaburo Kitasato during the 19th century, their potential for use as biotechnological reagents has been exploited in different fields, such as basic and applied research, diagnosis, and the treatment of multiple diseases. Antibodies [...] Read more.
Since the discovery of antibodies by Emil Von Behring and Shibasaburo Kitasato during the 19th century, their potential for use as biotechnological reagents has been exploited in different fields, such as basic and applied research, diagnosis, and the treatment of multiple diseases. Antibodies are relatively easy to obtain from any species with an adaptive immune system, but birds are animals characterized by relatively easy care and maintenance. In addition, the antibodies they produce can be purified from the egg yolk, allowing a system for obtaining them without performing invasive practices, which favors the three “rs” of animal care in experimentation, i.e., replacing, reducing, and refining. In this work, we carry out a brief descriptive review of the most outstanding characteristics of so-called “IgY technology” and the use of IgY antibodies from birds for basic experimentation, diagnosis, and treatment of human beings and animals. Full article
(This article belongs to the Section Antibody-Based Therapeutics)
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96 pages, 1956 KiB  
Review
A Historical Review of Military Medical Strategies for Fighting Infectious Diseases: From Battlefields to Global Health
by Roberto Biselli, Roberto Nisini, Florigio Lista, Alberto Autore, Marco Lastilla, Giuseppe De Lorenzo, Mario Stefano Peragallo, Tommaso Stroffolini and Raffaele D’Amelio
Biomedicines 2022, 10(8), 2050; https://doi.org/10.3390/biomedicines10082050 - 22 Aug 2022
Cited by 21 | Viewed by 15725
Abstract
The environmental conditions generated by war and characterized by poverty, undernutrition, stress, difficult access to safe water and food as well as lack of environmental and personal hygiene favor the spread of many infectious diseases. Epidemic typhus, plague, malaria, cholera, typhoid fever, hepatitis, [...] Read more.
The environmental conditions generated by war and characterized by poverty, undernutrition, stress, difficult access to safe water and food as well as lack of environmental and personal hygiene favor the spread of many infectious diseases. Epidemic typhus, plague, malaria, cholera, typhoid fever, hepatitis, tetanus, and smallpox have nearly constantly accompanied wars, frequently deeply conditioning the outcome of battles/wars more than weapons and military strategy. At the end of the nineteenth century, with the birth of bacteriology, military medical researchers in Germany, the United Kingdom, and France were active in discovering the etiological agents of some diseases and in developing preventive vaccines. Emil von Behring, Ronald Ross and Charles Laveran, who were or served as military physicians, won the first, the second, and the seventh Nobel Prize for Physiology or Medicine for discovering passive anti-diphtheria/tetanus immunotherapy and for identifying mosquito Anopheline as a malaria vector and plasmodium as its etiological agent, respectively. Meanwhile, Major Walter Reed in the United States of America discovered the mosquito vector of yellow fever, thus paving the way for its prevention by vector control. In this work, the military relevance of some vaccine-preventable and non-vaccine-preventable infectious diseases, as well as of biological weapons, and the military contributions to their control will be described. Currently, the civil–military medical collaboration is getting closer and becoming interdependent, from research and development for the prevention of infectious diseases to disasters and emergencies management, as recently demonstrated in Ebola and Zika outbreaks and the COVID-19 pandemic, even with the high biocontainment aeromedical evacuation, in a sort of global health diplomacy. Full article
(This article belongs to the Special Issue Vaccines and Antibodies for Therapy and Prophylaxis)
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14 pages, 10329 KiB  
Article
Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review
by Bayan Al Othman, Jia Ern Ong and Alina V. Dumitrescu
Genes 2022, 13(6), 1005; https://doi.org/10.3390/genes13061005 - 2 Jun 2022
Cited by 9 | Viewed by 4169
Abstract
Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes [...] Read more.
Dominant optic atrophy (DOA), MIM # 605290, is the most common hereditary optic neuropathy inherited in an autosomal dominant pattern. Clinically, it presents a progressive decrease in vision, central visual field defects, and retinal ganglion cell loss. A biallelic mode of inheritance causes syndromic DOA or Behr phenotype, MIM # 605290. This case report details a family with Biallelic Optic Atrophy 1 (OPA1). The proband is a child with a severe phenotype and two variants in the OPA1 gene. He presented with congenital nystagmus, progressive vision loss, and optic atrophy, as well as progressive ataxia, and was found to have two likely pathogenic variants in his OPA1 gene: c.2287del (p.Ser763Valfs*15) maternally inherited and c.1311A>G (p.lIle437Met) paternally inherited. The first variant is predicted to be pathogenic and likely to cause DOA. In contrast, the second is considered asymptomatic by itself but has been reported in patients with DOA phenotype and is presumed to act as a phenotypic modifier. On follow-up, he developed profound vision impairment, intractable seizures, and metabolic strokes. A literature review of reported biallelic OPA1-related Behr syndrome was performed. Twenty-one cases have been previously reported. All share an early-onset, severe ocular phenotype and systemic features, which seem to be the hallmark of the disease. Full article
(This article belongs to the Special Issue Insights into Heritability of Glaucoma and Other Optic Neuropathies)
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