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New knowledge about adenomyosis
Published in Carlos Simón, Linda C. Giudice, The Endometrial Factor, 2017
Giuseppe Benagiano, Beatrice Ermini, Marwan Habiba, Ivo Brosens
Using Illumina® HT-12 v3 Expression BeadChip gene expression analysis, Mehasseb et al. (79) reported that Wnt5a was consistently downregulated in both the inner and the outer myometrium during both the secretory and the proliferative phases of the cycles. The top five downregulated genes in the inner myometrium of adenomyotic uteri (compared with controls), in the proliferative phase, were ELMO/CED-12 domain containing 1 (ELMOD1), forkhead box L2 (FOXL2), SH3 domain GRB2-like 3 (SH3GL3), FLJ43329 protein (LOC401089), and transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C). The top five upregulated genes in the inner myometrium of adenomyotic uteri (compared with controls), in the proliferative phase, were immunoglobulin superfamily, member 10 (IGSF10); Fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1); SH3 and cysteine-rich domain (STAC); p300/CBP-associated factor (PCAF); and parathyroid hormone 2 receptor (PTH2R). The top five downregulated genes in the inner myometrium of adenomyotic uteri (compared with controls), in the secretory phase, were solute carrier family 3 (cystine, dibasic, and neutral amino acid transporters, activator of cystine, dibasic, and neutral amino acid transport), member 1 (SLC3A1); keratin 86 (KRT86); forkhead box Q1 (FOXQ1); tektin 1 (TEKT1); and prominin 1 (PROM1). The top five upregulated genes in the inner myometrium of adenomyotic uteri (compared with controls), in the secretory phase, were gliomedin (GLDN), peripherin (PRPH), mohawk homeobox (MKX), peptidase inhibitor 16 (PI16), and myotilin (MYOT) (80).
The Diagnostic Yield of Electromyography at Detecting Abnormalities on Muscle Biopsy: A Single Center Experience
Published in The Neurodiagnostic Journal, 2021
Patrick B. Moloney, Stela Lefter, Aisling M. Ryan, Michael Jansen, Niamh Bermingham, Brian McNamara
Our study highlights clinical scenarios where EMG and muscle biopsy may show conflicting findings. Four patients had EMG abnormalities consistent with a neurogenic disorder and muscle biopsy findings diagnostic for IBM. IBM can mimic amyotrophic lateral sclerosis (ALS) and in a study of patients with biopsy-proven IBM, 13% had an initial diagnosis of ALS, based on clinical and electrodiagnostic findings (Dabby et al. 2001). In cases with EMG abnormalities concerning for ALS, disproportionate finger flexion weakness should prompt a search for IBM by muscle biopsy. Three patients with chronic neuromuscular disorders had discordant investigations. “Pseudomyopathic” findings on muscle biopsy in spinal muscular atrophy and poliomyelitis have long been recognized (Dastur and Razzak 1973) and may have contributed to apparent discordance in 2 cases. The patient diagnosed with an unclassified LGMD by consensus opinion at our MDM had a myopathic EMG with predominantly neurogenic findings on muscle biopsy. Certain LGMDs cause combined dystrophy and neuropathy, including those associated with MYOT or LMNA pathogenic variants (Benedetti et al. 2005; Selcen 2011). Moreover, chronic myopathies may develop a neurogenic appearance on EMG, characterized by long duration motor unit potentials (Lacomis 2012). Lastly, dual pathology may lead to conflicting EMG and muscle biopsy findings, as was seen in 3 cases in our study.
An overview of statin-induced myopathy and perspectives for the future
Published in Expert Opinion on Drug Safety, 2020
Dragana Nikolic, Maciej Banach, Roberta Chianetta, Luca Marco Luzzu, Anca Pantea Stoian, Camelia Cristina Diaconu, Roberto Citarrella, Giuseppe Montalto, Manfredi Rizzo
Interestingly, independently of the 521 T > C polymorphism the intronic SNP rs4149081 in SLCO1B1 was linked with the low-density lipoprotein cholesterol (LDL-C) response to statins in Chinese patients [50], while SLCO1B1 (rs4149056, 521 T > C) was associated with statin-induced myotoxicity in Chinese patients with coronary artery disease. Although several data indicate the role of SLCO1B1 c.521 C > T SNP as a replicable genetic risk factor for SAMS, a very recent study suggests that, aside from SLCO1B1, no other risk loci for SAMS are apparent, and that SAMS risk is likely as a result of non-genetic risk factors or a consequence of rare genetic variants; thus, future translational studies should instead focus on rare analysis and on identifying non-genetic risk factors [51]. Finally, some findings support the role of rare variants and nominate loci for follow-up studies [52]. In details, the authors identified the novel candidate gene chloride voltage-gated channel 1 (CLCN1), a heterozygote truncating mutation p.R894* and detected predictably pathogenic case-specific variants in myotilin (MYOT), CYP3A5, SH3 domain and tetratricopeptide repeats 2 (SH3TC2), F-box protein 32 (FBXO32) and RNA binding motif protein 20 (RBM20). The results from a large, multicenter case-control study of both mild and severe SAMS in Caucasian participants do not support an association between the gene encoding glycine amidinotransferase (GATM) rs9806699 and SAMS, as previously documented [53]. However, the authors do not exclude the possibility that such an association might exist in specific conditions, but the potential mechanism between GATM and SAMS remains to be elucidated by future studies.