Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations

Background: SPG11 mutations can cause autosomal recessive hereditary spastic paraplegia (ARHSP) and juvenile amyotrophic lateral sclerosis (JALS). Because these diseases share some clinical presentations and both can be caused by SPG11 mutations, it was considered that definitive diagnosis may not be straight forward. Methods: The DNAs of referred ARHSP and JALS patients were exome sequenced. Clinical data of patients with SPG11 mutations were gathered by interviews and neurological examinations including electrodiagnosis (EDX) and magnetic resonance imaging (MRI). Results: Eight probands with SPG11 mutations were identified. Two mutations are novel. Among seven Iranian probands, six carried the p.Glu1026Argfs*4-causing mutation. All eight patients had features known to be present in both ARHSP and JALS. Additionally and surprisingly, presence of both thin corpus callosum (TCC) on MRI and motor neuronopathy were also observed in seven patients. These presentations are, respectively, key suggestive features of ARHSP and JALS. Conclusion: We suggest that rather than ARHSP or JALS, combined ARHSP/JALS is the appropriate description of seven patients studied. Criteria for ARHSP, JALS, and combined ARHSP/JALS designations among patients with SPG11 mutations are suggested. The importance of performing both EDX and MRI is emphasized. Initial screening for p.Glu1026Argfs*4 may facilitate SPG11 screenings in Iranian patients. © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LL

Five-year laboratory-based study of candida albicans versus non-albicans candida species at a tertiary pediatric care hospital in Iran

Objective: To determine the distribution of Candida albicans and non-albicans Candida species in various specimen types of pediatric patients Design: Retrospective cross-sectional study using laboratory database Setting: Children�s Medical Center, Tehran, Iran from 2012 to 2016 Subjects: All specimens from pediatric patients with positive culture for Candida species in microbiological examinations Intervention: None Main outcome measures: Frequency of Candida species in different specimen types for five years Results: During the study period, 2755 out of 2,95,525 (0.93) specimens were positive for Candida growth in culture. Of them, 550 (19.96) were from normally sterile specimens or sites. C. albicans was the predominant species (68.9), significantly isolated from both genders (P=.009), and all age groups (P=.011). However, in 2014 and 2015, almost 50 of isolates from normally sterile specimens or sites were non-albicans Candida species. Urine samples were the greatest source of isolation (n=1314, 47.7), followed by throat swabs (n=472, 17.1) and blood specimens (n=344, 12.5). Children were the prevailing age group for Candida isolation (n=1435, 52.1), followed by infants (n=1012, 36.7) and neonates (n=308, 11.2). Conclusion: C. albicans was the dominant species in Children�s Medical Center. However, the proportion of non-albicans Candida species was higher in some specimen types and the frequency of Candida species was different in various wards. These data could be beneficial in a clinical setting. © 2020, Kuwait Medical Association. All rights reserved