15 research outputs found
On certain questions of the free group automorphisms theory
Certain subgroups of the groups of automorphisms of a free group
are considered. Comparing Alexander polynomials of two poly-free groups
and we prove that these groups are not isomorphic, despite the
fact that they have a lot of common properties. This answers the question of
Cohen-Pakianathan-Vershinin-Wu from \cite{CVW}. The questions of linearity of
subgroups of are considered. As an application of the properties of
poison groups in the sense of Formanek and Procesi, we show that the groups of
the type for certain groups and the subgroup of
-automorphisms are not linear for . This
generalizes the recent result of Pettet that are not linear for
.Comment: 11 page
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy
Limb-girdle muscular dystrophy type 2 (LGMD2B) is a mild form of dysferlinopathy, characterized by limb weakness and wasting. It is an autosomal recessive disease, with currently 140 mutations in the LGMD2B gene identified. Lack of functional dysferlin inhibits muscle fiber regeneration in voluntary muscles, the main pathological finding in LGMD2B patients. However, the immune system has been suggested to contribute to muscle cell death and tissue regeneration. Serum levels of 27 cytokines were evaluated in a dysferlinopathy patient. Levels of 8 cytokines differed in patient serum compared to controls. Five cytokines (IL-10, IL-17, CCL2, CXCL10, and G-CSF) were higher while 3 were lower in the patient than in controls (IL-2, IL-8, and CCL11). Together, these data on serum cytokine profile of this dysferlinopathy patient suggest immune response activation, which could explain leukocyte infiltration in the muscle tissue
Synergistic HNO–HSO–NH upper tropospheric particle formation
New particle formation in the upper free troposphere is a major global source of cloud condensation nuclei (CCN). However, the precursor vapours that drive the process are not well understood. With experiments performed under upper tropospheric conditions in the CERN CLOUD chamber, we show that nitric acid, sulfuric acid and ammonia form particles synergistically, at rates that are orders of magnitude faster than those from any two of the three components. The importance of this mechanism depends on the availability of ammonia, which was previously thought to be efficiently scavenged by cloud droplets during convection. However, surprisingly high concentrations of ammonia and ammonium nitrate have recently been observed in the upper troposphere over the Asian monsoon region5,6. Once particles have formed, co-condensation of ammonia and abundant nitric acid alone is sufficient to drive rapid growth to CCN sizes with only trace sulfate. Moreover, our measurements show that these CCN are also highly efficient ice nucleating particles—comparable to desert dust. Our model simulations confirm that ammonia is efficiently convected aloft during the Asian monsoon, driving rapid, multi-acid HNO–HSO–NH nucleation in the upper troposphere and producing ice nucleating particles that spread across the mid-latitude Northern Hemisphere
Transport and chemical processing of trace gases in deep convective clouds
Deep convective clouds can efficiently transport trace gases from the planetary boundary layer to the upper troposphere. Once there, some gases will contribute to new particle formation and growth, eventually producing aerosols that are large enough to influence cloud properties, the radiative budget of the Earth, and climate. The magnitude and exact pathways of the convective transport of many organic and inorganic compounds are, however, still unclear. This dissertation presents a framework to study vertical transport of gas mixtures by deep convective clouds. The method consists of a chemical box model that is driven by cloud air parcel trajectory data generated by large-eddy simulation. This combination allows us to examine detailed gas-cloud interactions as well as complex systems of gas-phase chemical reactions. A large ensemble of simulated cloud trajectories was used to identify and characterize convective up- and downdrafts in the Amazon region. The analysis showed that air parcels starting close to the surface (at 0.5 km) experienced a substantially larger probability of reaching the upper troposphere (above 10 km) than parcels starting at the top of the boundary layer. Furthermore, the framework was used to estimate the vertical transport of isoprene, isoprene oxidation products, ammonia, and several non-reactive trace gases. We found that a typical Amazonian deep convective cloud can transport around 30% of the boundary layer isoprene to the cloud outflow if the efficiency of the gas uptake on ice is high and there is no lightning within the cloud. If the efficiency of gas uptake on ice is low and lightning within the cloud is extensive, all isoprene will be oxidized. Several low-volatility isoprene oxidation products will then have relatively high concentrations in the outflow, which potentially could lead to new particle formation and growth. Another result was that up to 10% of the boundary layer ammonia can reach the cloud outflow, where it in some environments can nucleate synergistically with nitric and sulfuric acid. A key uncertainty in our estimates is the efficiency of gas uptake by ice particles
The Role of Convective Up‐ and Downdrafts in the Transport of Trace Gases in the Amazon
Deep convective clouds can redistribute gaseous species and particulate matter among different layers of the troposphere with important implications for atmospheric chemistry and climate. The large number of atmospheric trace gases of different volatility makes it challenging to predict their partitioning between hydrometeors and gas phase inside highly dynamic deep convective clouds. In this study, we use an ensemble of 51,200 trajectories simulated with a cloud‐resolving model to characterize up‐ and downdrafts within Amazonian deep convective clouds. We also estimate the transport of a set of hypothetical non‐reactive gases of different volatility, within the up‐ and downdrafts. We find that convective air parcels originating from the boundary layer (i.e., originating at 0.5 km altitude), can transport up to 25% of an intermediate volatility gas species (e.g., methyl hydrogen peroxide) and up to 60% of high volatility gas species (e.g., n‐butane) to the cloud outflow above 10 km through the mean convective updraft. At the same time, the same type of gases can be transported to the boundary layer from the middle troposphere (i.e., originating at 5 km) within the mean convective downdraft with an efficiency close to 100%. Low volatility gases (e.g., nitric acid) are not efficiently transported, neither by the updrafts nor downdrafts, if the gas is assumed to be fully retained in a droplet upon freezing. The derived properties of the mean up‐ and downdraft can be used in future studies for investigating convective transport of a larger set of reactive trace gases
Glu20Ter Variant in PLEC 1f Isoform Causes Limb-Girdle Muscle Dystrophy with Lung Injury
Plectinopathies are orphan diseases caused by PLEC gene mutations. PLEC is encoding the protein plectin, playing a role in linking cytoskeleton components in various tissues. In this study, we describe the clinical case of a 26-year-old patient with an early onset plectinopathy variant “limb-girdle muscle dystrophy type 2Q,” report histopathological and ultrastructural findings in m. vastus lateralis biopsy and a novel homozygous likely pathogenic variant (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in isoform 1f of the gene PLEC. The patient had an early childhood onset with retarded physical development, moderate weakness in pelvic girdle muscles, progressive weakening of limb-girdle muscles after the age of 21, pronounced atrophy of axial muscles, and hypertrophy of the gastrocnemius, deltoid, and triceps muscles, intermittent dyspnea, and no skin involvement. Findings included: non-infectious bronchiolitis and atelectasis signs, biopsy revealed myodystrophal pattern without macrophage infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss, incomplete reparative rhabdomyogenesis, and moderate endomysial fibrosis. We have determined a novel likely pathogenic variant in PLEC 1f isoform that causes limb-girdle muscle dystrophy type 2Q and described the third case concerning an isolated myodystrophic phenotype of LGMD2Q with the likely pathogenic variant in PLEC 1f isoform. In addition, we have demonstrated the presence of severe lung injury in a patient and his siblings with the same myodystrophic phenotype and discussed the possible role of plectin deficiency in its pathogenesis
Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report
Abstract Background Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once. Case presentation We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers. Conclusions This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity