Rev Invest Clin
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Observational Study
Serum Repressor Element-1 Silencing Transcription Factor Levels in Alzheimer's Patients from a National Institute of Health in Mexico City, Elderly and Young Controls.
Decreased levels of repressor element-1 silencing transcription (REST) factor in the brain, plasma, and neuronderived exosomes are associated with Alzheimer's disease (AD). ⋯ Our results differ from previously published patterns found for plasma and cerebral REST levels. Free serum REST levels may not be a viable AD blood-based biomarker.
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Andersen-Tawil syndrome (ATS) is a cardiac channelopathy that is inherited in an autosomal dominant way, and it is characterized by a triad of periodic paralysis, ventricular arrhythmias, and includes some dysmorphic features with incom- plete penetrance and variable expression that result in a challenging diagnosis. ⋯ Extra- cardiac manifestations were a common finding in this series of ATS type1 at high risk of SCD. Its recognition could help the clinician in the early identification of patients with ATS, especially for the cardiologist since they are commonly referred only for evaluation of ventricular arrhythmias.
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The consequences of the coronavirus disease (COVID)-19 pandemic go beyond the number of cases and deaths attributed to severe acute respiratory syndrome (SARS)-coronavirus-2 infection. The overwhelmed health care systems and the strict social containment measures have had an impact on the threshold at which patients seek medical care for diseases other than COVID-19, including cardiovascular conditions.
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Dear Editor, I would like to share ideas on the publication by Olivares- Gazca et al.1, titled: Infusion of convalescent plasma is associated with clinical improvement in critically ill patients with COVID-19: A pilot study. The authors stated that "although other treatment were also administered to the patients and as a result data are difficult to interpret, it seems that the addition of CoPla improved pulmonary function1." In fact, it is possible that convalescent plasma therapy might be useful in management of the COVID-19 patients.
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Fukuyama congenital muscular dystrophy (FCMD) is the most common form of a group of autosomal recessive disorders characterized by altered α-dystroglycan glycosylation and caused by FKTN gene mutations. However, mutations of this gene may cause a broad range of phenotypes, including Walker-Warburg syndrome, muscle-brain-eye disease, FCMD, limbgirdle muscular dystrophy without mental retardation, and cardiomyopathy with no or minimal skeletal muscle weakness. ⋯ This is the first report demonstrating that heterozygous individuals for the FKTN p.Gly424Ser mutation were healthy, while two homozygous brothers suffered severe DCM, strongly suggesting that this FKTN mutation is a rare cause of autosomal recessive DCM.