Pompe disease misdiagnosed as polymyositis.

Late-onset Pompe disease manifests predominantly in the proximal lower limbs and may be mistaken for an inflammatory myopathy. A 46-year-old man with acromegaly had an 8-year history of progressive weakness. His myopathy was initially attributed to the acromegaly, but severe progression prompted a muscle biopsy, which suggested an inflammatory myopathy. However, his weakness progressed despite treatment for polymyositis. His muscle ultrasound scan pattern was more suggestive of Pompe disease than polymyositis, and Pompe disease was confirmed by genetic and enzymatic testing. Patients with apparent polymyositis, which persists despite treatment, require reconsideration of the diagnosis, with particular attention to treatable genetic causes.

Marked neuropsychiatric involvement and dysmorphic features in nemaline myopathy.

BACKGROUND: Inherited nemaline myopathy is one of the most common congenital myopathies. This genetically heterogeneous disease is defined by the presence of nemaline bodies in muscle biopsy. The phenotypic spectrum is wide and cognitive involvement has been reported, although not extensively evaluated. METHODS: We report two nemaline myopathy patients presenting pronounced central nervous system involvement leading to functional compromise and novel facial and skeletal dysmorphic findings, possibly expanding the disease phenotype. RESULTS: One patient had two likely pathogenic NEB variants, c.2943G > A and c.8889 + 1G > A, and presented cognitive impairment and dysmorphic features, and the other had one pathogenic variant in ACTA1, c.169G > C (p.Gly57Arg), presenting autism spectrum disorder and corpus callosum atrophy. Both patients had severe cognitive involvement despite milder motor dysfunction. CONCLUSION: We raise the need for further studies regarding the role of thin filament proteins in the central nervous system and for a systematic cognitive assessment of congenital myopathy patients.

Correlation between ABO blood type, susceptibility to SARS-CoV-2 infection and COVID-19 disease severity: A systematic review

ABSTRACT Objectives: To verify the association between the ABO blood type and the risk of SARS-CoV-2 infection and COVID-19 disease severity. Methods: This review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), using the 2020 PRISMA Checklist and flow diagram, and articles selected for review were analyzed using the Newcastle-Ottawa Quality Rating Scale. The research question was: "Would the ABO blood group influence the risk of infection and clinical course of patients infected with SARS-CoV-2?", The following databases were used: Embase, PubMed, Virtual Health Library (VHL), Web of Science, Science-Direct and Scopus. The protocol for this review was registered in the Prospective Register of Systematic Reviews (PROSPERO), number CRD42021245945. Results: We found 798 articles across PubMed, Embase, Scopus, Web of Science, Science Direct and Virtual Health Library and 54 articles were included in the final analysis. Among 30 studies evaluating the risk of COVID-19 infection, 21 found significant correlations with ABO blood groups, 14 of them revealing an increased risk in blood group A and 15 studies showing a decreased risk in blood group O. Most studies found no significant correlation with disease severity or mortality. Conclusion: The qualitative assessment of available information suggests that blood group A may be a risk factor for COVID-19 infection and that blood group O may have a protective effect. We were unable to determine a clear association between the ABO blood group and mortality. These conclusions are based on highly heterogenous evidence.

Correlation between ABO blood type, susceptibility to SARS-CoV-2 infection and COVID-19 disease severity: A systematic review.

OBJECTIVES: To verify the association between the ABO blood type and the risk of SARS-CoV-2 infection and COVID-19 disease severity. METHODS: This review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA), using the 2020 PRISMA Checklist and flow diagram, and articles selected for review were analyzed using the Newcastle-Ottawa Quality Rating Scale. The research question was: "Would the ABO blood group influence the risk of infection and clinical course of patients infected with SARS-CoV-2?", The following databases were used: Embase, PubMed, Virtual Health Library (VHL), Web of Science, ScienceDirect and Scopus. The protocol for this review was registered in the Prospective Register of Systematic Reviews (PROSPERO), number CRD42021245945. RESULTS: We found 798 articles across PubMed, Embase, Scopus, Web of Science, Science Direct and Virtual Health Library and 54 articles were included in the final analysis. Among 30 studies evaluating the risk of COVID-19 infection, 21 found significant correlations with ABO blood groups, 14 of them revealing an increased risk in blood group A and 15 studies showing a decreased risk in blood group O. Most studies found no significant correlation with disease severity or mortality. CONCLUSION: The qualitative assessment of available information suggests that blood group A may be a risk factor for COVID-19 infection and that blood group O may have a protective effect. We were unable to determine a clear association between the ABO blood group and mortality. These conclusions are based on highly heterogenous evidence.