Limits on using the clock drawing test as a measure to evaluate patients with neurological disorders.

BACKGROUND: The Clock Drawing Test (CDT) is used as a quick-to-conduct test for the diagnosis of dementia and a screening tool for cognitive impairments in neurological disorders. However, the association between the pattern of CDT impairments and the location of brain lesions has been controversial. We examined whether there is an association between the CDT scores and the location of brain lesions using the two available scoring systems. METHOD: One hundred five patients with brain lesions identified by CT scanning were recruited for this study. The Montreal Cognitive Assessment (MoCA) battery including the CDT were administered to all partcipants. To score the CDT, we used a qualitative scoring system devised by Rouleau et al. (1992). For the quantitative scoring system, we adapted the algorithm method used by Mendes-Santos et al. (2015) based on an earlier study by Sunderland et al. (1989). For analyses, a machine learning algorithm was used. RESULTS: Remarkably, 30% of the patients were not detected by the CDT. Quantitative and qualitative errors were categorized into different clusters. The classification algorithm did not differentiate the patients with traumatic brain injury 'TBI' from non-TBI, or the laterality of the lesion. In addition, the classification accuracy for identifying patients with specific lobe lesions was low, except for the parietal lobe with an accuracy of 63%. CONCLUSION: The CDT is not an accurate tool for detecting focal brain lesions. While the CDT still is beneficial for use with patients suspected of having a neurodegenerative disorder, it should be cautiously used with patients with focal neurological disorders.

Core myopathy in two siblings with a biallelic variant in the CACNA1S gene-A case series study.

Homozygous variants of Calcium Voltage-Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation were previously identified as causes of periodic paralysis and congenital early-onset myopathy, while it could be manifested as a late-onset congenital core myopathy. Abstract: Calcium Voltage-Gated Channel Subunit Alpha1 S (CACNA1S) gene mutation has been linked to various neuromuscular conditions in recent years. Congenital myopathy with core-like features is one of the cardinal associations reported previously, causing severe respiratory insufficiency and death in neonates. Informed consent was received from the patients. Subsequently, peripheral blood leukocytes were utilized to extract genomic DNA. Moreover, exome enrichment was implemented through the Twist Human Core Exome Kit (Twist Bioscience) and exome sequenced using Illumina NovaSeq 6000 platform (Illumina, San Diego, CA, USA). Sanger sequencing using BIG Dye Terminators confirmed the presence of the final variant. Finally, the candidate variants were classified based on the American College of Medical Genetics and Genomics (ACMG) guidelines. In this report, we describe two siblings, who presented with childhood and late-onset progressive muscle weakness, and had a homozygous variant in exon 2 of the CACNA1S gene defined as c.188C > A (p.Ala63Asp) (NM_000069.3). The SIFT, Polyphen2, CADD PHRED, and Mutation Taster analysis tools classified the variant as pathogenic/damaging. The muscle biopsy of the younger brother revealed intermyofibrillar network pattern disruption as cytoplasmic core-like lesions. The muscle magnetic resonance imaging (MRI) reported grade IIa and IIb fatty changes. Finally, the electromyography (EMG) findings suggested a myopathic change pattern. This report illustrates the clinical variability in CACNA1S-related myopathy by reviewing prior reports and adding newly found aspects, additionally expanding the gene defects associated with core myopathy.

A new genetic variant, presenting as young onset rapidly progressive dementia and parkinsonism.

There are various neurodegenerative or hereditary causes of Parkinsonism. Therefore, clinicians should consider an increasing range of differential diagnoses when facing a patient with Parkinsonism, especially when associated with additional clinical features. Young-onset Parkinsonism, especially when accompanied by features uncommon in idiopathic Parkinson's disease raises the possibility of genetic etiology. Herein, we present a case of a 40-year-old man with genetic Parkinson's disease, presenting with rapidly progressive dementia. This round will describe our approach to this clinical presentation and the unveiling of a rare genetic condition.

The predictive power of serum vitamin D for poor outcomes in COVID-19 patients.

Considering the high prevalence of vitamin D deficiency worldwide and its relationship with immune response to viral infections, this study attempted to identify the predictive power of serum vitamin D for poor outcomes among the COVID-19 patients. This retrospective cohort study included all patients with confirmed COVID-19 hospitalized between February 20, 2020, and April 20, 2020, at a designated COVID-19 hospital, located in Tehran province, Iran. General characteristics, medical history and clinical symptoms were recorded by trained physicians. Blood parameters including complete blood count, creatinine, lactate dehydrogenase, creatine phosphokinase, erythrocyte sedimentation rate, C-reactive protein and vitamin D were tested. This study included 290 hospitalized patients with COVID-19 (the mean age [SD]: 61.6 [16.9], 56.6% males), of whom 142 had vitamin D concentrations less than 20 ng/ml, defined as vitamin D deficiency. COVID-19 patients with vitamin D deficiency were more likely to die (Crude OR [95% CI]: 2.30 [1.25-4.26]), require ICU (2.06 [1.22-3.46]) and invasive mechanical ventilation (2.03 [1.04-3.93]) based on univariate logistic regression results. Although, after adjusting for potentials confounders such as gender and age, the association between vitamin D and need to invasive mechanical ventilation lost its significance, adjusted values for the risk of death and ICU requirement were still statistically significant. Vitamin D deficiency can be considered as a predictor of poor outcomes and mortality in COVID-19 patients. Therefore, checking serum 25 (OH) D on admission and taking vitamin D supplements according to the prophylactic or treatment protocols is recommended for all COVID-19 patients.