Characteristic Cochlear Hypoplasia in Patients with Walker-Warburg Syndrome: A Radiologic Study of the Inner Ear in alpha-Dystroglycan-Related Muscular Disorders

BACKGROUND AND PURPOSE: Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy are α-dystroglycan–related muscular disorders associated with brain malformations and eye abnormalities in which no structural inner ear abnormality has been described radiologically. We collected patients from 6 tertiary pediatric hospitals and reported the radiologic features and frequency of inner ear dysplasias. MATERIALS AND METHODS: Patients previously diagnosed clinicoradiologically with Walker-Warburg syndrome, muscle-eye-brain disease, or Fukuyama congenital muscular dystrophy were included. We recorded the pathogenic variant, when available. Brain MR imaging and/or CT findings were reviewed in consensus, and inner ear anomalies were classified according to previous description in the literature. We then correlated the clinicoradiologic phenotype with the inner ear phenotype. RESULTS: Thirteen patients fulfilled the criteria for the Walker-Warburg syndrome phenotype, 8 for muscle-eye-brain disease, and 3 for Fukuyama congenital muscular dystrophy. A dysplastic cochlea was demonstrated in 17/24. The most frequent finding was a pronounced cochlear hypoplasia type 4 with a very small anteriorly offset turn beyond the normal-appearing basal turn (12/13 patients with Walker-Warburg syndrome and 1/11 with muscle-eye-brain disease or Fukuyama congenital muscular dystophy). Two of 8 patients with muscle-eye-brain disease, 1/3 with Fukuyama congenital muscular dystrophy, and 1/13 with Walker-Warburg syndrome showed a less severe cochlear hypoplasia type 4. The remaining patients without Walker-Warburg syndrome were healthy. The vestibule and lateral semicircular canals of all patients were normal. Cranial nerve VIII was present in all patients with diagnostic MR imaging. CONCLUSIONS: Most patients with the severe α‐dystroglycanopathy Walker-Warburg syndrome phenotype have a highly characteristic cochlear hypoplasia type 4. Patients with the milder variants, muscle-eye-brain disease and Fukuyama congenital muscular dystrophy, more frequently have a normal cochlea or milder forms of hypoplasia

COVID-19 in a Pediatric Cohort—Retrospective Review of Chest Computer Tomography Findings

Background: Radiological features of the novel 2019 coronavirus disease (COVID-19) have been mainly described in adults. Available literature states that imaging findings in children are similar but less pronounced. The aim of this study is to describe and illustrate the chest computer tomography (CT) features of pediatric COVID-19. Results: This retrospective study was based on the review of all the chest CTs performed in pediatric patients with confirmed COVID-19 disease between March 8th and May 26th 2020 (n = 24). The presence of comorbidities and coinfection was assessed, as well as timing of CT examination in relation to the onset of symptoms. CT findings were categorized as typical, indeterminate, atypical, and negative for COVID-19 according to International Expert Consensus Statement on Chest Imaging in Pediatric COVID-19 Patient Management. This study found that CT findings were abnormal in 17 (71%) patients, with 5 (21%), 9 (38%), and 3 (13%) patients considered to have typical, indeterminate, and atypical findings, respectively. The most common CT patterns were multiple ground-glass opacities (58%), followed by consolidations (50%). Six patients showed predominantly peripheral distribution of parenchymal abnormalities. A halo sign was identified in 3 patients and a perilobular pattern was identified in one of the cases with typical findings. Conclusions: Chest CT findings in children infected with SARS-CoV-2 can be subtle or absent. Besides recognizing typical findings, radiologists should be able to identify features that favor different or concomitant diagnosis.info:eu-repo/semantics/publishedVersio

Charcoal chronology of the Amazon forest: A record of biodiversity preserved by ancient fires

This is the author accepted manuscript. The final version is available from Elsevier via the DOI in this record.he Amazon region holds a wide variety of ethnic groups and microclimates, enabling different interactions between humans and environment. To better understand the evolution of this region, ancient remains need to be analysed by all possible means. In this context, the study of natural and/or anthropogenic fires through the analysis of carbonized remains can give information on past climate, species diversity, and human intervention in forests and landscapes. In the present work, we undertook an anthracological analysis along with the 14 C dating of charcoal fragments using accelerator mass spectrometry (AMS). Charcoal samples from forest soils collected from seven different locations in the Amazon Basin were taxonomically classified and dated. Out of the 16 groups of charcoal fragments identified, five contained more than one taxonomic type, with the Fabaceae, Combretaceae and Sapotaceae families having the highest frequencies. 14 C charcoal dates span ∼6000 years (from 6876 to 365 yr BP) among different families, with the most significant variation observed for two fragments from the same sampling location (spanning 4000 14 C yr). Some sample sets resulted in up to five different families. These findings demonstrate the importance of the association between anthracological identification and radiocarbon dating in the reconstruction of paleo-forest composition and fire history.The authors thank the Brazilian agencies Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq), Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES), and Fundação Carlos Chagas Filho de Amparo à Pesquisa do Estado do Rio de Janeiro (FAPERJ). KDM thanks CNPq for fellowship 305079/2014–0. CL thanks FAPEAM/FAPESP (09/53369-6, led by Flávia Regina Capellotto Costa) for financial support and Thaise Emílio, José Luiz Purri da Veiga Pinto, Rosineide Machado and Francislaide da Silva Costa for help with charcoal collection. TRF, BSM, and BHM acknowledge financial support from NERC (NE/N011570/1), CAPES/CNPq Science without Borders (PVE 177/2012 and PVE 401279/2014-6), CNPq/PPBio (457602/2012-0), CNPq/PELD (403725/2012-7) and the University of Exeter - College of Life and Environmental Sciences

Analysis of the Performance of a Standardized Method for the Polishing of Methacrylic Resins

Adhesion of micro-organisms to resin surface may be caused by inadequate polishing. Most of the studies published in literature are relative to manually prepared samples and do not take into account that test repeatability is not guaranteed a priori since skills may change from one operator to another and the quality of the work done by the same expert operator may depend on “human” factors such as the level of attention, wrist trembling, etc