CPEO

A 48-year-old Japanese male experienced slowly progressive diplopia. He had no family history and was negative for the edrophonium chloride test. Blood analysis showed elevated lactic acid and pyruvic acid levels, suggesting mitochondrial disease. A muscle biopsy from the biceps brachii was performed, but no pathological or genetical mitochondrial abnormalities were detected. Subsequently, he underwent muscle plication for diplopia in which the right inferior rectus muscle was biopsied. Genetic examination of genomic DNA extracted from the extraocular muscle tissue revealed multiple mitochondrial gene deletions, with a heteroplasmy rate of approximately 35%, resulting in the diagnosis of chronic progressive external ophthalmoplegia...

Grapefruit peel essential oil (CpEO) was loaded on chitosan (Cs) nano-biopolymer by ionic gelation method and its effect on physicochemical properties of cherry tomatoes was evaluated during 18 days of storage at 10 °C. The highest loading capacity and encapsulation efficiency were obtained from the weight ratio of 1:0.25 Cs to oil. TEM, DLS and FTIR were used to characterize the nanoparticles. The release of the oil from the nanoparticles followed the Fickian diffusion model. CpEO-CsNPs-CO and CpEO-CsNPs-RE treatments reduced ethylene production and respiration rate and indicated a significant and promising effect on increasing the level of antioxidant enzymes (CAT and POD), slowing down the loss of ascorbic acid and total phenolic content and consequently, maintaining antioxidant capacity...

Citrus fruits Cold Press Essential Oils (CPEOs) constitute a low-cost by-product produced during the juice making process that are composed by a volatile and a non-volatile fraction. Their non-volatile fractions are rich in valuable secondary metabolites, such as carotenoids, coumarins, psoralens and flavonoids [1,2]. Study herein concerns the development of a quantitative method for their carotenoids analyses using the LC-MS/MS and LC-DAD methodology.•CPEOs carotenoids content was characterized quantitatively...

PURPOSE: Surgical correction of myogenic ptosis is a sophisticated endeavor, as the disease is progressive and the post-operative course is prone to significant complications. We sought to review the literature for repair techniques in different types of myogenic ptosis. METHODS: A PubMed/MEDLINE literature search of publications pertaining to surgical outcomes of progressive myogenic ptosis repair was performed. Studies included were original retrospective studies with a minimum of four patients...

Ophthalmoparesis and ptosis can be caused by a wide range of rare or more prevalent diseases, several of which can be successfully treated. In this review, we provide clues to aid in the diagnosis of these diseases, based on the clinical symptoms, the involvement pattern and imaging features of extra-ocular muscles (EOM). Dysfunction of EOM including the levator palpebrae can be due to muscle weakness, anatomical restrictions or pathology affecting the innervation. A comprehensive literature review was performed to find clinical and imaging clues for the diagnosis and follow-up of ptosis and ophthalmoparesis...

Patients with mitochondrial diseases can develop cardiomyopathy but with variable expressivity and penetrance. Our prospective study enrolled and evaluated a cohort of 53 patients diagnosed with chronic progressive ophthalmoplegia (CPEO, n = 34), Kearns-Sayre syndrome (KSS, n = 3), neuropathy ataxia and retinitis pigmentosa (NARP, n = 1), myoclonic epilepsy with ragged red fibers (MERRF, n = 1), Harel-Yoon Syndrome (HYS, n = 1) and 13 patients with undefined mitochondrial diseases, presenting primarily with neurological symptoms...

Mitochondrial DNA (mtDNA) maintenance disorders embrace a broad range of clinical syndromes distinguished by the evidence of mtDNA depletion and/or deletions in affected tissues. Among the nuclear genes associated with mtDNA maintenance disorders, RNASEH1 mutations produce a homogeneous phenotype, with progressive external ophthalmoplegia (PEO), ptosis, limb weakness, cerebellar ataxia, and dysphagia. The encoded enzyme, ribonuclease H1, is involved in mtDNA replication, whose impairment leads to an increase in replication intermediates resulting from mtDNA replication slowdown...

Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease with predominant synovitis that has no complete cure or preventive treatment. Citrus essential oils, used in natural fragrances, contain a variety of functional ingredients that are worthy of investigation for their potential as natural anti-inflammatory drug sources. In this study, essential oils were hydro distilled from the peels of four citrus species: Citrus sinensis (L.) Osbeck (CSEOs), Citrus paradisi Macfad. (CPEOs), Citrus limon (L...

A curious triad of retinitis pigmentosa, external ophthalmoplegia, and complete heart block was presented by Sayre et al. in 1958. Since then, the disorder named Kearns-Sayre syndrome (KSS) has come to represent patients with mitochondrial DNA deletions presenting before adulthood, primarily with chronic progressive external ophthalmoplegia (CPEO) and pigmentary retinopathy. However, it is increasingly noted that the presentations can well be variable despite similar genetic deletions. Here, we present two cases with identical large-scale mitochondrial DNA deletions but very dissimilar outlook...

No abstract text is available yet for this article.

Kearns-Sayre Syndrome (KSS) is a subtype of chronic progressive external ophthalmoplegia (CPEO). In this case, A 21-year-old man diagnosed with KSS, and presented with chronic progressive blepharoptosis (ptosis) and external ophthalmoplegia, diffuse depigmentation of the retinal pigment epithelium, and cerebellar ataxia, with a cerebrospinal fluid protein of 254 mg/dL, was reported. Genetic screening revealed a novel mutated gene in SLC25A4 in the patient as well as in his mother: NM_001151:c.170G>C in exon 2...

PURPOSE: Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease characterized by slowly progressive ptosis and limitations in ocular motility. Although exophthalmos is not considered to be a common feature of CPEO, this study focused on the incidence of exophthalmos in patients with CPEO. STUDY DESIGN: Retrospective observational case series METHODS: We reviewed the clinical charts of patients who received a diagnosis of CPEO sometime during the period between January 2010 and December 2018...

Mutations in nuclear-encoded genes that are involved in mitochondrial DNA replication and maintenance (e.g., POLG ) have been associated with chronic progressive external ophthalmoplegia (CPEO) phenotype. These nuclear genome mutations may lead to multiple mitochondrial DNA deletions or mitochondrial DNA depletion. On the other hand, primary genetic defects of mitochondrial DNA (such as single large-scale deletion or point mutations) have also been associated with the CPEO phenotype. Chronic progressive external ophthalmoplegia (CPEO) may be a manifestation of specific syndromes that, when clinically recognized, prompt clinicians to investigate specific genetic defects...

Mitochondria is a unique cellular organelle involved in multiple cellular processes and is critical for maintaining cellular homeostasis. This semi-autonomous organelle contains its circular genome - mtDNA (mitochondrial DNA), that undergoes continuous cycles of replication and repair to maintain the mitochondrial genome integrity. The majority of the mitochondrial genes, including mitochondrial replisome and repair genes, are nuclear-encoded. Although the repair machinery of mitochondria is quite efficient, the mitochondrial genome is highly susceptible to oxidative damage and other types of exogenous and endogenous agent-induced DNA damage, due to the absence of protective histones and their proximity to the main ROS production sites...

Chronic progressive external ophthalmoplegia (CPEO) manifests phenotypically as ptosis with ophthalmoplegia or CPEO-plus, with the affection of muscles or organs other than the extra-ocular eye muscles. Herein, a case of CPEO-plus caused by a single mitochondrial DNA (mtDNA) deletion is represented, along with several previously unreported phenotypic features. The patient is a 76-year-old Caucasian female who had experienced slowly progressive bilateral ptosis since the age of 15, followed by gradual ophthalmoparesis without double vision...

Cold pressed essential oil (CPEO) of mandarin ( Citrus reticulata Blanco), a by-product of the juice-making industrial process known to contain large amounts of polymethoxyflavones, was exploited for its content in high added value natural coumarins. The study herein afforded a method referring to the evaporation of CPEO volatile fraction under mild conditions (reduced pressure and temperature below 35 °C) as azeotrope with isopropanol. This allowed the isolation of high added value coumarins from the non-volatile fragment using preparative High Performance Liquid Chromatography (HPLC)...

Mitochondrial disorders are a remarkably complex group of diseases caused by impairment of the mitochondrial respiratory chain (or electron transport chain) [...].

Electric fields are commonly used to trap and separate micro- and nanoparticles near channel constrictions in microfluidic devices. The trapping mechanism is attributed to the electrical forces arising from the nonhomogeneous electric field caused by the constrictions, and the phenomenon is known as insulator-based-dielectrophoresis (iDEP). In this paper, we describe stationary electroosmotic flows of electrolytes around insulating constrictions induced by low frequency AC electric fields (below 10 kHz). Experimental characterization of the flows is described for two different channel heights (50 and 10 μm), together with numerical simulations based on an electrokinetic model that considers the modification of the local ionic concentration due to surface conductance on charged insulating walls...

Mitochondrial DNA deletions affect energy metabolism at tissue-specific and cell-specific threshold levels, but the pathophysiological mechanisms determining cell fate remain poorly understood. Chronic progressive external ophthalmoplegia (CPEO) is caused by mtDNA deletions and characterized by a mosaic distribution of muscle fibers with defective cytochrome oxidase (COX) activity, interspersed among fibers with retained functional respiratory chain. We used diagnostic histochemistry to distinguish COX-negative from COX-positive fibers in nine muscle biopsies from CPEO patients and performed laser capture microdissection (LCM) coupled to genome-wide gene expression analysis...

A 25-year-old man complained of progressive diplopia and limb weakness for 3 years. Mitochondrial myopathy was suspected according to clinical presentation, elevated serum lactate concentration, and muscle histopathology. However, next-generation mtDNA sequencing (mtDNA NGS) of the blood only revealed a likely benign variant in the MT-CO1 gene (m.6510G > A). An mtDNA NGS study on the muscle sample revealed a large mtDNA deletion (m.5788-m.16071). The patient was diagnosed as having CPEO-plus syndrome related to the large mtDNA deletion...