Porous graphitic carbons were successfully obtained from wood precursors through pyrolysis using a transition metal as catalyst. Once the catalyst is removed, the resulting material mimics the ...microstructure of the wood and presents high surface area, open and interconnected porosity and large pore volume, high crystallinity and good electrical conductivity, making these carbons interesting for electrochemical devices. Carbons obtained were studied as electrodes for supercapacitors in half cell experiments, obtaining high capacitance values in a basic media (up to 133 F g super(-1) at current densities of 20 mA g super(-1) and 35 F g super(-1) at current densities of 1 A g super(-1)). Long-cycling experiments showed excellent stability of the electrodes with no reduction of the initial capacitance values after 1000 cycles in voltammetry.
Objective
To describe the incidence and fatality of coronavirus disease 2019 (COVID‐19) and identify risk factors to fatality in patients with inflammatory articular diseases (IAD).
Methods
This is a ...cross‐sectional observational study of IAD patients and COVID‐19 with controls matched for age, sex, and RT‐PCR. A control group was used to compare the cumulative incidence (CI) and case fatality rate (CFR). The main outcomes of the study were CI and CFR. Other variables included comorbidities, treatments, and characteristics of the COVID‐19. Multiple logistic regression analysis was performed to investigate risk factors for fatality in patients with IAD.
Results
Of the 1537 patients who fulfilled the inclusion criteria, 23/1537 (1.49%) had IAD 13 (0.8%) had rheumatoid arthritis (RA), 5 psoriatic arthritis (PsA) (0.3%) and 5 axial spondyloarthritis (0.3%). There were no significant differences in CI of COVID‐19 and CFR in patients with IAD compared with COVID‐19 patients without IAD. In RT‐PCR positive patients, the CI of COVID‐19 in PsA and AS was higher. Of the 23 IAD patients, 2 RA patients (8.6%) died. The patients did no show characteristics of the COVID‐19 disease different from the population. In multivariate analysis, the factor associated with fatality in patients with IAD was older age (OR 95% CI, 1.1 1.0‐1.2).
Conclusion
COVID‐19 CI, fatality rate and other features do not seem to be increased in IAD patients. Older age was associated with fatality in patients with IAD.
Purpose
To examine if brain malformations, similar to those which account for cognitive disorders seen in human disease, are present in an ovine model of myelomeningocele (MMC).
Methods
An MMC-like ...lesion was surgically created in 16 fetal lambs between 60 and 80 days of gestation. Ten did not undergo fetal repair (group A), 2 were repaired with an open two-layer closure (group B), 2 with open bioglue coverage (group C) and 2 with fetoscopic coverage (group D). Lambs were killed and their brains were examined. Two brains from normal unoperated lambs served as controls.
Results
Thirteen lambs died in utero (81%). Two lambs in group A and 1 in group B were delivered at term. Group A brains showed hydrocephalus and extensive areas of polymicrogyria. There was also an extensive denudation of the ependymal lining under the polymicrogyric areas and the corpus callosum was thinner than normal. No hindbrain herniation was observed. Brains from group B and the control did not show any of these abnormalities.
Conclusions
Some of the central nervous system abnormalities associated to MMC in human patients are also found in the uncorrected fetal lamb model of MMC but not in the only survivor to intrauterine coverage. Further studies are necessary to ascertain if these abnormalities can be prevented by coverage of the defect.
Context:
Genomic imprinting is the modification of the genome so that genes from only one (rather than two) of the parental alleles are expressed. The mechanism underlying imprinting is epigenetic, ...occurring via changes in DNA methylation and histone modifications rather than through alterations in the DNA sequence. To date, nine different imprinting disorders have been clinically and genetically identified and a considerable research effort has been focused on determining the cause of the corresponding methylation defects.
Objective:
Our objective was to identify multilocus imprinting defects and characterize any mutations in trans-acting genes in patients with pseudohypoparathyroidism (PHP) caused by epigenetic alterations at GNAS locus.
Design:
We have investigated multilocus imprinting defects in 22 PHP patients with aberrant methylation at the GNAS locus not due to previously described deletions or to paternal uniparental disomy (UPD) of chromosome 20.
Results:
We found that, in contrast to what has been described in growth disorders, multilocus hypomethylation is an uncommon event in PHP patients. We were also unable to identify any genetic alteration causative of the epigenetic defects in the currently known methylation regulatory genes.
Conclusion:
Our work suggests that a trans-acting gene regulating the establishment or maintenance of imprinting at GNAS locus, if it exists, should be specific to PHP cases caused by epigenetic defects at GNAS.
PurposeType I pseudohypoparathyroidism (PHP-I) can be subclassified into Ia and Ib, depending on the presence or absence of Albright's hereditary osteodystrophy's phenotype, diminished α-subunit of ...the stimulatory G protein (Gsα) activity and multihormonal resistance. Whereas PHP-Ia is mainly associated with heterozygous inactivating mutations in Gsα-coding exons of GNAS, PHP-Ib is caused by imprinting defects of GNAS. To date, just one patient with PHP and complete paternal uniparental disomy (UPD) has been described.We sought to identify the underlining molecular defect in twenty patients with parathyroid hormone resistance, hypocalcemia and hyperphosphatemia, and abnormal methylation pattern at GNAS locus.MethodsMicrosatellite typing and comparative genome hybridization were performed for proband and parents.ResultsWe describe four patients with partial paternal UPD of chromosome 20 involving pat20qUPD in one case, from 20q13.13-qter in two cases, and pat20p heterodisomy plus interstitial 20q isodisomy in one patient.ConclusionsThese observations demonstrate that mitotic recombination of chromosome 20 can also give rise to UPD and PHP, a situation similar to other imprinting disorders, such as Beckwith–Wiedemann syndrome or neonatal diabetes.
Objectives:
To evaluate the worldwide incidence and prevalence of ANCA vasculitis through a systematic review of the literature and meta-analysis.
Methods:
A systematic search of MEDLINE and EMBASE ...search engines was carried out for studies that analyzed the incidence and prevalence of ANCA vasculitis in different geographical areas
. Inclusion criteria
: patients diagnosed with ANCA vasculitis according to ACR criteria/ Chapel Hill Consensus and adult patients (> 16 years). All ANCA vasculitis (microscopic polyangiitis, granulomatosis with polyangiitis, eosinophilic granulomatosis with polyangiitis) were considered.
Exclusion criteria
: editorials, conference abstracts, case or cases series reports and narrative reviews; insufficient description of the methods; lack of data to compute incidence or prevalence; and duplicate studies.
Variables
:
Main variable:
the pooled prevalence measured by the number of prevalent cases per million / person-year (95% CI) and the pooled incidence measured as the number of incident cases per million / person-year (95% CI).
Secondary variables
: the prevalence and incidence of each vasculitis ANCA and according geographic area. A meta-analysis was undertaken to estimate the pooled incidence and the pooled prevalence per million / person-years. The 95% CI and I2 for heterogeneity were calculated.
Results:
Twenty four studies were included. The pooled incidence (95% CI) was 12.2 per million / person-year (8.4-16.5) and the pooled prevalence (95% CI) was 130 per million / person-year (67.5-213). The individual incidence for each vasculitis was: GPA (6.7), MPA (5.9) and EGPA (1.6). The individual prevalence for each vasculitis was: GPA (69.3), MPA (21.9) and EGPA (13.5).
In the analysis by continents, the pooled incidence for GPA vasculitis was higher in Europe (7.5), while the pooled incidence for MPA vasculitis was higher in America (6.9) and for EGPA vasculitis it was higher in Asia (1.8). The pooled prevalence for GPA and MPA vasculitis was higher in Europe (83.9,24.4 respectively) than in America (14.2, 12.8 respectively).
Conclusion:
The pooled incidence and the pooled prevalence are higher in the case of GPA vasculitis compared to the rest of ANCA vasculitis. In general there is a predominance of incidence and prevalence of all ANCA vasculitis in the northern hemisphere compared to the south.
Figure 1.
The pooled incidence ANCA vasculitis.
Figure 2.
The pooled prevalence ANCA vasculitis
Disclosure of Interests:
None declared
Pseudohypoparathyroidism (PHP) is a rare disease whose phenotypic features are rather difficult to identify in some cases. Thus, although these patients may present with the Albright's hereditary ...osteodystrophy (AHO) phenotype, which is characterized by small stature, obesity with a rounded face, subcutaneous ossifications, mental retardation and brachydactyly, its manifestations are somewhat variable. Indeed, some of them present with a complete phenotype, whereas others show only subtle manifestations. In addition, the features of the AHO phenotype are not specific to it and a similar phenotype is also commonly observed in other syndromes. Brachydactyly type E (BDE) is the most specific and objective feature of the AHO phenotype, and several genes have been associated with syndromic BDE in the past few years. Moreover, these syndromes have a skeletal and endocrinological phenotype that overlaps with AHO/PHP. In light of the above, we have developed an algorithm to aid in genetic testing of patients with clinical features of AHO but with no causative molecular defect at the GNAS locus. Starting with the feature of brachydactyly, this algorithm allows the differential diagnosis to be broadened and, with the addition of other clinical features, can guide genetic testing.
We reviewed our series of patients (n = 23) with a clinical diagnosis of AHO and with brachydactyly type E or similar pattern, who were negative for GNAS anomalies, and classify them according to the diagnosis algorithm to finally propose and analyse the most probable gene(s) in each case.
A review of the clinical data for our series of patients, and subsequent analysis of the candidate gene(s), allowed detection of the underlying molecular defect in 12 out of 23 patients: five patients harboured a mutation in PRKAR1A, one in PDE4D, four in TRPS1 and two in PTHLH.
This study confirmed that the screening of other genes implicated in syndromes with BDE and AHO or a similar phenotype is very helpful for establishing a correct genetic diagnosis for those patients who have been misdiagnosed with "AHO-like phenotype" with an unknown genetic cause, and also for better describing the characteristic and differential features of these less common syndromes.