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Platelet-Derived Growth Factor
Published in Jason Kelley, Cytokines of the Lung, 2022
James P. Fabisiak, Jason Kelley
Naturally occurring, nondegradable substances may play a direct role in pulmonary disorders. For example, the compound ceroid represents a naturally occurring substance that appears to induce PDGF biosynthesis and release (Witkop et al., 1989). Given the wide variety of stimuli that trigger PDGF release, a key issue concerning regulation of this release by macrophages relates to what stimuli do not induce it. Other questions for future study include ranking the various stimuli and correlating PDGF release with release of the host of other cytokines that these cells release.
Fat-Soluble Vitamins
Published in Luke R. Bucci, Nutrition Applied to Injury Rehabilitation and Sports Medicine, 2020
Frank deficiency of vitamin E is rare in humans.505–512 Severe deficiencies are found in preterm infants, fat malabsorption syndromes, abetalipoproteinemia, protein-calorie malnutrition, cirrhosis, and biliary atresia.505–512 Retinopathy, neuropathy, hemolytic anemia, muscular dystrophy, accumulation of ceroid pigments (lipofuscin), thrombocytosis, and other neuromuscular defects have been identified as frank vitamin E-deficiency symptoms in humans.505–511 However, functional or relative vitamin E deficiencies are believed to play a role in incidence and onset of a wide variety of conditions related to free radicals.505,512 Cardiovascular diseases, cancer, arthritis, immune function, senile dementia, Alzheimer’s disease, and a long list of other conditions may be influenced by antioxidant status in general. Since vitamin E is a major antioxidant, its functionality will affect ability to handle free radicals and associated adverse health effects. Again, this topic has been covered by many texts.305–307
Hermansky-Pudlak syndrome, Chediak-Chigasi syndrome, and Griscelli syndrome
Published in Electra Nicolaidou, Clio Dessinioti, Andreas D. Katsambas, Hypopigmentation, 2019
Vesna Pljakoska, Silvija Duma, Andrej Petrov
Furthermore, HPS patients with bleeding diathesis should be evaluated and managed by a hematologist, and female patients should be also evaluated by gynecologists if abnormally abundant menstrual bleeding is present. If present, gastrointestinal complications associated with ceroid deposition, such as gastroduodenitis, proctocolitis, or a granulomatous colitis, should be addressed by gastroenterologists. In addition, patients with subtypes 1, 2, or 4 should be diagnosed and managed by a pneumologist, due to the risk of developing severe pulmonary fibrosis.
Histopathological and ultrastructural study of carotid atherosclerotic plaques: a study of four cases
Published in Ultrastructural Pathology, 2021
Ru Yong-xin, Zhang Xue-bin, Dong Shu-xu, Zhang Yongqiang, Li Ying, Liu Jing, Gao Ying-dai, Shang Hong-Cai, Brian Eyden
Despite the challenge to interpret the nature of a necrotic cell in atherosclerotic samples due to morbid differentiation and disruption of the cells, ceroid granules with a fingerprint structure often occurred in damaged and dystrophic myoid cells in the cardiovascular system along with lipofuscin.30–32 Ceroid granules had features distinct from lipofuscin although they have been referred to as a lipofuscin-like granules and lipochrome pigmentation in the literature.33,34 In the present study, most ceroid granules had a filamentous structure whereas lipofuscin contained residual lipid and myelinated materials morphologically. The present study demonstrated many necrotic cells containing ceroid granules, lipid droplets and myofilaments in the cytoplasm and multilayered lamina and fibronectin materials on the surface in all cases. The results were consistent with previous research and demonstrated the necrosis of VSMCs and other myoid cells in CAPs.35
MFSD8 gene mutations; evidence for phenotypic heterogeneity
Published in Ophthalmic Genetics, 2019
Davood Zare-Abdollahi, Ata Bushehri, Afagh Alavi, Alireza Dehghani, Mohammadreza Mousavi-Mirkala, Jalil Effati, Seyed Ali Mohammad Miratashi, Mohammad Dehani, Payman Jamali, Hamid Reza Khorram Khorshid
WES approach identified a compound heterozygous (c.1361T>C; p.M454T and c.1235C>T; p.P412L) previously reported variants in family A and a homozygous variant (c.1361T>C; p.M454T) in family B identical to one of the variants in family A in MFSD8 gene, both confirmed by Sanger sequencing and co-segregated with disease status. c.1361T>C in exon 13 was variant of uncertain significance (VUS) and found in all patients of both families; however, variant c.1235C>T in exon 12, which observed in patient of family B (IV-1 and IV-2), was pathogenic and located at a highly conserved nucleotide, both absent from all databases and predicted to be deleterious in computational analysis. No other potential disease-causing variant was found in known retinal disease-associated genes. Based on perfect segregation of the mutant allele with the disease in the family as well as reporting these mutations associated with variant late-infantile neuronal ceroid lipofuscinoses (vLINCL), these variants are likely to be causative mutations in five patients with CCMD from two different families, rather than a rare polymorphism in the normal population.
Emerging therapeutic targets for epilepsy: preclinical insights
Published in Expert Opinion on Therapeutic Targets, 2022
Krzysztof Łukawski, Stanisław J. Czuczwar
In spite of preclinical research documenting the effectiveness of gene therapy in seizure activity, the clinical data are very limited. Some encouraging results were obtained in patients with neural ceroid lipofuscinoses (Batten disease) or hereditary leukodystrophy (Canavan disease), being associated with seizures [110]. Owing to these studies, it is well known that for instance in patients with Canavan disease, stereotaxic administration of the ASPA gene into the brain resulted in mild adverse effects mainly due to the neurosurgery procedure and immune responses. This indicates that the first very important step has been made.