China
Africa
Explore chapters and articles related to this topic
Inherited Myopathic Diseases
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
Minicore myopathy (MCM) has similar clinical and histological presentation and genetic abnormalities of CCD. In contrast to central cores, MCM is an autosomal recessive pattern associated with axial weakness, spinal rigidity, more cardiac involvement, and histologically shows small minicores not usually delineated by desmin (Figure 17.2a). Pathologists should make careful inspection of muscle fibers with minicores as these cases may sometimes be misdiagnosed with RYR-1 or SEPN1 MCM. They also can be identified in other neuromuscular diseases. (See Chapter 11, Table 11.1.)
Diseases of Muscle and the Neuromuscular Junction
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Chris Turner, Anthony Schapira
Minicore/multicore disease is an autosomal recessive, sporadic and possibly dominant disorder characterized clinically by a slowly progressive or non-progressive childhood-onset myopathy. Weakness may involve axial muscles, the extraocular muscles and muscles of respiration. Kyphoscoliosis is common. The disease is associated with mutations in several genes including RYR1, SEPN1 and Titin, although all causative genes are not known. There is characteristic muscle pathology of multiple small cores in individual muscle fibres.
Adherence to Oxidative Balance Scores is Associated with a Reduced Risk of Breast Cancer; A Case-Control Study
Published in Nutrition and Cancer, 2022
Mohammad Hassan Sohouli, Mansoureh Baniasadi, Ángela Hernández-Ruiz, Ebru Melekoglu, Mona Zendehdel, María José Soto-Méndez, Atieh Akbari, Mitra Zarrati
Although there is considerable heterogeneity in the definition of the numerous OBS, concerning the components and their scoring systems, research suggests a positive effect between high adherence to these tools and a lower risk of some diseases, especially colon and BrCa (20). Regarding breast cancer, five studies have been found that have deepened the relationship between the OBS score and the risk of this disease and interactions with genes and polymorphisms. Pellat et al. (35) have examined possible relationships between BrCa risk and survival and single nucleotide polymorphisms in the selenoprotein genes (GPX1, GPX2, GPX3, GPX4, SELS, SEP15, SEPN1, SEPP1, SEPW1, TXNRD1, and TXNRD2) among Hispanic/Native American and non-Hispanic white women in the Breast Cancer Health Disparities Study. The authors assessed selenoprotein single nucleotide polymorphisms for interactions with DOBS and observed that GPX3 rs2070593, GPX4 rs2074451, SELS rs9874, and TXNRD1 rs17202060 showed interactions with DOBS after adjusting (multiple comparisons). The interactions identified with DOBS stated that high DOBS may decrease BrCa risk in subjects with high-risk genotypes.
Ophthalmological Manifestations of Hereditary Myopathies
Published in Journal of Binocular Vision and Ocular Motility, 2022
Marta Saint-Gerons, Miguel Angel Rubio, Gemma Aznar, Ana Matheu
Core myopathies (CM) are characterized by reduced oxidative enzyme activity in the central area of myofibers during muscle biopsy.17 Minicores and multi-minicores are variants of the same pathology. Autosomal dominant or recessive mutations in the RyR1 gene are related to them. Some variants of CM with multi-minicores are caused by mutations in the SEPN1 gene (selenoprotein N1). Most patients follow a static or slowly progressive course,18 but severe forms of myopathy can be life-threatening in childhood. Some RYR1 gene mutations have been implicated in malignant hyperthermia susceptibility, a disorder of calcium regulation in the skeletal muscle.10 Congenital ophthalmoplegia is associated with RYR1 mutations and, in particular by multi-minicore myopathy type.19,20
Genetics of platelet traits in ischaemic stroke: focus on mean platelet volume and platelet count
Published in International Journal of Neuroscience, 2019
Kanika Vasudeva, Anjana Munshi
Oh et al. conducted a GWAS with 3,52,228 SNP typed in 10,038 subjects of the KAR project and replicated the results in 7,861 subjects from an independent population. They identified genetic associations related to PLT as reported by Saranzo et al. (2009) [107]. A recent GWAS employing 1,73,480 individuals of European ancestry, tested 29.5 million genetic variants in association with platelet and other blood cell traits. The analysis revealed several low frequency (n = 210) (<5%) and rare (n = 130) (<1%) variants. Five common senital variants including ZFP36L2/THADA, SH2B3, HBS1L, PRTFDC1 and GCKR were found to be associated across six blood cell traits (mature red cell, immature red cell, myeloid white cell, lymphoid white cell, compound white cell, platelets). They found 11 rare protein altering variants associated with platelet indices, of which ten were missense including IQGAP2, JAK2, SH2B3, TUBB1, CKAP2L, PLEK,TNFRSF13B and one nonsense variant (KALRN). They also found more than 300 independent genetic loci to be associated with MPV and PLT. Many of them were novel associations. However, follow up of these variants must be taken up to elucidate the underlying mechanism. Some of these loci have been reported previously to be in association with MPV and PLT. These variants have been included in Figure 1. These loci were further evaluated for their association with blood group genes and rare disease genes. Blood group loci were identified as rs111941366, rs75446219, rs12096438 (RHD/RHCE/SEPN1); rs6762 (CD151); rs1060431 (G1BA); rs34603233 (SLC4A1/ITGA2B); rs117107187 (ITGB3); rs17561351 (BCAM); rs2287922 (FUT2/FUT1), rs7284681 (A4GALT). However, rs150221602 (JAK2), and rs216371 (vWF) were found to be associated with rare disease genes [108].