Defect Group Research Articles

Recommendations for care, prevention of infections and chemoprophylaxis in inborn errors of immunity

Inborn errors of immunity, previously named primary immunodeficiency are a heterogeneous group of genetic defects of different components of the immune system. Patients present high susceptibility to an only or several microorganisms, developing recurrent infections; the severity is related to the specific genetic type of immunity defect. The main strategy on the management of these illness is the prevention of infections. These consensus guidelines made by the Pediatric Immunology Work Group of Sociedad Argentina de Pediatría, givese main approaches of infection prevention in order to provide a useful tool for all practitioners who are involved in the management of these patients, based on scientific evidence and broad consensus of a specialized panel expert..

Flavor structures of quarks and leptons from flipped SU(5) GUT with A4 modular flavor symmetry

We propose to generate the flavor structures of the Standard Model plus neutrinos from flipped SU(5) GUT with A4 modular flavor symmetry. Possible way to assign different moduli values for quarks and leptons in modular GUT scheme is discussed. We propose to reduce the multiple modular symmetries to a single modular symmetry in the low energy effective theory with proper boundary conditions. We classify all possible scenarios in this scheme according to the assignments of the modular A4 representations for matter superfields and give the expressions of the quark and lepton mass matrices predicted by our scheme at the GUT scale. After properly selecting the modular weights for various superfields that can lead to better fitting, we can obtain the best-fit points with the corresponding χ2 values for the sample subscenarios. We find that the flavor structures of the Standard Model plus neutrinos can be fitted perfectly in such a A4 modular flavor GUT scheme with single or two modulus fields. Especially, the {chi}_{textrm{total}}^2 of our fitting can be as low as 1.558 for sample IX′ of scenario III even if only a single common modulus field for both quark and lepton sectors is adopted. The most predictive scenario III, in which all superfields transform as triplets of A4, can be fitted much better with two independent moduli fields τq, τl for quark sector and lepton sector ( {chi}_{textrm{total}}^2 ≈ 95) than that with the single modulus case ( {chi}_{textrm{total}}^2 ≈ 282.4).

Performance and Stability of Doped Ceria–Zirconia Catalyst for a Multifuel Reforming

In the present work, the catalytic behavior of nickel-based catalysts supported on ceria/zirconia, undoped and doped with lanthanum and neodymium (3.5Ni/Ce0.8La0.5Nd0.2Zr0.13O2−x), was investigated under different reactions: steam reforming, partial oxidation and autothermal reforming of different fuels (methane, biogas, and propane). The catalytic properties of these catalysts were evaluated at a temperature of 800 °C, under atmospheric pressure, at GSHV = 120,000 h−1, using steam/carbon and oxygen/carbon ratio, respectively, of S/C = 2.5 and O/C = 0.5 and, in the case of autothermal conditions, with the addition of H2S (100 ppm) as a contaminant. Depending on the tested fuel, ATR, SR, and POX reactions over doped and undoped catalysts showed different results. In particular, the doped catalyst, due to neodymium and lanthanum doping, better distributed nickel species on the catalyst surface, promoting a higher concentration of defect groups and oxygen vacancies. This resulted in improved catalytic performance and resistance to deactivation. Endurance catalytic test also confirmed the beneficial effect of the doped catalysts.

Evaluation of the aorta in infants with simple or complex coarctation of the aorta using CT angiography.

To assess aortic dilatation and determine its related factors in infants with coarctation of the aorta (CoA) by using computed tomography angiography (CTA). The clinical data of 55 infantile patients with CoA diagnosed by CTA were analyzed retrospectively. Aortic diameters were measured at six different levels and standardized as Z scores based on the square root of body surface area. The results of simple and complex CoA were compared. Univariate and multivariate logistic regression were used to analyze the effects of sex, age, hypertension, degree of coarctation, CoA type, bicuspid aortic valve (BAV), and other factors related to aortic dilatation. In total, 52 infant patients with CoA were analyzed, including 22 cases of simple CoA and 30 cases of complex CoA. The ascending aorta of the infants in the simple CoA group and the complex CoA group were dilated to different degrees, but the difference was not statistically significant (50.00% vs. 73.33%, P = 0.084, and 2.05 ± 0.40 vs. 2.22 ± 0.43 P = 0.143). The infants in the complex CoA group had more aortic arch hypoplasia than those in the simple CoA group (33.33% vs. 9.09%, P = 0.042). Compared to the ventricular septal defect (VSD) group, the Z score of the ascending aorta in the CoA group was significantly higher than that in the VSD group (P = 0.023 and P = 0.000). A logistic retrospective analysis found that an increased degree of coarctation (CDR value) was an independent predictor of ascending aortic dilatation (adjusted OR = 0.002; P = 0.034). Infants with simple or complex CoA are at risk of ascending aortic dilatation, and the factors of ascending aortic dilatation depend on the degree of coarctation. The risk of aortic dilatation in infants with CoA can be identified by CTA.

In-situ forming injectable GFOGER-conjugated BMSCs-laden hydrogels for osteochondral regeneration

The collagen-mimetic peptide GFOGER possesses the chondrogenic potential and has been used as a cell adhesion peptide or chondrogenic inducer. Here, we prepared an injectable in situ forming composite hydrogel system comprising methoxy polyethylene glycol-b-polycaprolactone (MPEG-PCL) and GFOGER-conjugated PEG-PCL (GFOGER-PEG-PCL) with various GFOGER concentrations based on our recently patented technology. The conjugation of GFOGER to PEG-PCL was confirmed by 1H NMR, and the particle size distribution and rheological properties for the sol-gel transition behavior of the samples with respect to the GFOGER content were evaluated systemically. In vitro experiments using rat bone marrow-derived mesenchymal stem cells (BMSCs) revealed that the GFOGER-PEG-PCL hydrogel significantly enhanced expression of integrins (β1, α2, and α11), increased expression of FAK, and induced downstream signaling of ERK and p38. Overexpression of chondrogenic markers suggested that BMSCs have the potential to differentiate into chondrogenic lineages within GFOGER-PEG-PCL samples. In vivo studies using a rat osteochondral defect model revealed that transplanted BMSCs with GFOGER0.8-PEG-PCL survived at the defect with strong chondrogenic expression after 4 weeks. The stem cell-laden GFOGER0.8-PEG-PCL hydrogel produced remarkable osteochondral regeneration at 8 weeks of transplantation, as determined by histological findings and micro-CT analysis. The histomorphological score in the GFOGER0.8-PEG-PCL + BMSCs group was ~1.7-, 2.6-, and 5.3-fold higher than that in the GFOGER0.8-PEG-PCL, MPEG-PCL, and defect groups, respectively. Taken together, these results provide an important platform for further advanced GFOGER-based stem cell research for osteochondral repair.

Role of intergenic interactions between cytokine and Toll-like receptor genes in the etiology of congenital heart defects

The incidence of congenital heart defects (CHDs) reaches 1% of all newborns. Of particular importance is the group of heart defects without a family history and chromosomal disorders, which makes up>80% of all CHDs. These heart defects can be designated as sporadic CHDs, and their etiology and pathogenesis continue to be studied.Aim. To study the association of cytokine and Toll-like receptor (TLR) genes with CHDs in children.Material and methods. We examined 188 children with sporadic (without family history) CHDs (main group) and 103 healthy children without CHDs (control group). Genotyping was performed by real-time polymerase chain reaction (PCR).Results. Sporadic CHDs, in general, and septal CHDs, in particular, are formed on similar intergenic associations that determine the dysregulation of the proliferation and differentiation of progenitor cells of the cardiovascular system. Probably, one of the molecular mechanisms for sporadic septal CHDs may be the inefficiency of intracellular signaling pathways for Nuclear Factor kappa B (NF-κB) due to the primary deficiency of membrane heterodimers TLR1/TLR6, TLR2/TLR6, and TLR1/TLR2.Conclusion. Data on altered proinflammatory potential in the group of sporadic septal CHDs should be taken into account in the postnatal period when conducting cardiac surgery.

On the source algebra equivalence class of blocks with cyclic defect groups, I

We investigate the source algebra class of a p-block with cyclic defect groups of the group algebra of a finite group. By the work of Linckelmann this class is parametrized by the Brauer tree of the block together with a sign function on its vertices and an endo-permutation module of a defect group. We prove that this endo-permutation module can be read off from the character table of the group. We also prove that this module is trivial for all cyclic p-blocks of quasisimple groups with a simple quotient which is a sporadic group, an alternating group, a group of Lie type in defining characteristic, or a group of Lie type in cross-characteristic for which the prime p is large enough in a certain sense.

ANALYSIS OF DEFECTS IN THE FORENSIC MEDICAL ASSESSMENT OF CHANGES DISCOVERED DURING THE EXAMINATION OF PERSONS WHO DIED FROM TRAUMATIC BRAIN INJURY.

The aim: To identify the main groups of expert defects that arise during the forensic assessment of changes detected during the examination of persons who died from a traumatic brain injury (TBI). Materials and methods: A total of 102 repeated commission forensic medical examinations with changed conclusions in corpses with TBI were analyzed. Data processing and analysis were conducted using statistical methods. Results: The examined forensic medical assessments of TBI with changed conclusions in corpses were categorized into the following groups: defects in estab¬lishing the diagnosis of TBI - 17.65±7.4%; defects in establishing the mechanism of TBI - 35.3±9.3%; defects in establishing the duration of TBI - 39.22±9.5%: sober - 20±12.4%; with alcohol intoxication - 80±12.4%. A combination of defects was found in 7.83±5.2% of cases. Defects that directly affected the experts' incorrect establishment of the diagnosis, mechanism, and duration of TBI were also identified. Conclusions: The largest number of changed conclusions during the forensic medical examination of corpses in cases of TBI was due to the wrongly established duration of the trauma, accounting for 39.2±9.5%, with the vast majority of cases (80±12.4%) observed against the background of alcohol intoxication. The mechanism of trauma accounted for 35.3±9.3% of the changed conclusions. The main defects were incomplete collection of material for histological examination (90.2±5.8%) and incorrect interpretation of the results of histological examination (76.48±8.2%), along with the violation of the method of sectional examination (68.6±9.0%). Different groups of expert defects predominated in the cases with an incorrectly established diagnosis of TBI, duration of trauma, and mechanism.

Simulation of Point Defects Formation in the Fuel Element of a Nuclear Power Plant’s Wave Reactor

This paper considers the point defects that influence the operation of a wav nuclear power reactor with a uranium fuel medium. The formed individual point defects or such defect groups can produce a perturbing effect on the stability of the nuclear reactor operating mode and involve its transition to an unstable state. Studies have been carried out on the effect on the characteristics of the nuclear burnup wave in a medium with neutron multiplication for 2D geometry. For the calculation, the uranium-thorium fissile medium has been considered. The parametric calculations were carried out with 235 U different enrichment percents and different values of neutron activation energy. At that, it was assumed that the wave (flow) reactor stable operation region is located in the range of activation energies from 10–3 eV to 1 eV or in the region from 2 MeV to 8 MeV. When calculating the neutron flux intensity in a wave reactor, the influence of point defects and their aggregates on the decelerating elastically scattered neutrons’ flux density and the flux density of decelerating non-elastically scattered neutrons was considered. The dependences of the point defects formation rate on the medium fissile temperature for several compositions of the uranium-thorium medium are obtained. As visually identified, the graphic materials obtained during the calculations are similar to the photos of fuel rods after the energy campaign.

Poruchy fetálneho alkoholového spektra u detí v období raného veku

Fetal alcohol spectrum disorders is an umbrella term for a group of congenital neurodevelopmental defects and brain damage, the main cause of which is prenatal alcohol exposure. Alcohol consumption during the mother’s pregnancy has serious effects on the development of children at an early age, which can be manifested at the physical and neurobehavioral areas. Children at different stages of early childhood development show specific behaviors and deficits in individual domains of development. Deficits are highly variable in individual children. Screening and subsequent availability of early diagnosis and intervention is important, including various early intervention strategies specific to FASD.

Towards a Discrete Snake-Like Robot Based on SMA-Actuated Tristable Modules for Follow the Leader Control Strategy

Snake-like robots applications include surveillance and exploration of confined environments where human presence is incompatible. The attractiveness of this type of mechatronic structure is notably linked to the modular character and the hyper-redundancy of their architecture, which gives it both mechanical robustness and great manoeuvrability. However, due to the large number of degrees-of-freedom, the use of advanced mathematical models are needed to asses the motion patterns and to simulate it. A new snake-like robot architecture is introduced in this paper together with the development methodology of a replicable multistable module. The interest of this contribution lies in the combination of the mechanical stability of the modules with an easy-to-use direct kinematic model, thus avoiding the need of complex control strategies. The design of one module exploiting the three stable states of a tristable flexible mechanism so as to orient the articulation of the module at three distinct stable angles is first presented. Then a prototype of a modular snake-like robot is built and experimentally evaluated. The prototype consists of 4 modules that can be individually oriented by <inline-formula xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink"><tex-math notation="LaTeX">$\pm$</tex-math></inline-formula> 7.1 degrees. Each module measures 51.5 × 32 mm and weighs 2.5g. Thereby, this work provides the first results on the feasibility of this robotic architecture which consists of several multistable modules. A good agreement between the working space estimated with the direct kinematic model and experimental measurements is obtained. According to the fact that these are preliminary results, there is a 1.5% error between the experimental results and the models.

Comparison of outcomes in three surgical techniques for proximal hypospadias: staged transverse preputial island flap urethroplasty versus single-stage repairs.

To evaluate and compare the outcomes and complications of three different surgical techniques for treating primary proximal hypospadias with ventral curvature (VC) ≥30°, we retrospectively reviewed the medical records of patients who underwent primary repair of proximal hypospadias with VC ≥30° after degloving at Beijing Children's Hospital Affiliated to Capital Medical University (Beijing, China) from January 2019 to January 2021. A total of 152 patients were divided into three groups: transverse preputial island flap (TPIF) combined with Duplay, modified Koyanagi, and staged TPIF, which were performed on 55, 16, and 81 patients, respectively. A total of 39 (25.7%) patients had complications. Complications rates were similar for the TPIF combined with the Duplay group (40.0%) and modified Koyanagi group (50.0%) but lower for the staged TPIF group (11.1%; P < 0.01). The incidence of urethrocutaneous fistulas was significantly higher in TPIF combined with Duplay group (21.8%) compared to staged TPIF group (4.9%; P = 0.01). In univariate analysis, the length of the urethral defect was the single factor that could predict complications; the cutoff was 4.55 cm. More patients in the long urethral defect group than in the short one had complications (34.1% vs 15.7%, P = 0.01). These results indicate that staged TPIF produced a better outcome, whereas more patients in the TPIF combined with Duplay group presented with two or more complications.

Phototherapeutic keratectomy: current approaches and changing trends in a tertiary eye clinic.

To examine the efficacy of phototherapeutic keratectomy as a treatment for variable pathologies with anterior corneal opacities and evaluate the distribution of phototherapeutic keratectomy indications over the past 10 years. The records of 334 eyes from 276 patients who underwent phototherapeutic keratectomy between March 2010 and 2020 were retrospectively reviewed. Etiologies of the patients who underwent phototherapeutic keratectomy were noted, and their changes were examined. Refractive and visual acuity results before and after the operation were recorded and analyzed according to etiology. The mean age of the patients was 40.7 ± 16.2 years (range: 19-84). The mean follow-up was 25.5 ± 19.1 months (range: 3-96). Phototherapeutic keratectomy was most frequently applied for corneal stromal dystrophies (44%, 151 eyes from 111 patients), and granular dystrophy was the most common phototherapeutic keratectomy indication among corneal dystrophies. Unlike other indications, there has been an increase in the application of phototherapeutic keratectomy for persistent subepithelial opacities due to adenoviral conjunctivitis in the past 10 years. There was a significant increase in visual acuity in all groups except for the recurrent epithelial defect group (p<0.05). The greatest improvement in visual acuity was detected for stromal dystrophies in the granular dystrophy subgroup. Despite changing indication trends, phototherapeutic keratectomy remains an effective and reliable treatment for anterior corneal lesions.

Structure of blocks with normal defect and abelian inertial quotient

Abstract Let k be an algebraically closed field of prime characteristic p. Let $kGe$ be a block of a group algebra of a finite group G, with normal defect group P and abelian $p'$ inertial quotient L. Then we show that $kGe$ is a matrix algebra over a quantised version of the group algebra of a semidirect product of P with a certain subgroup of L. To do this, we first examine the associated graded algebra, using a Jennings–Quillen style theorem. As an example, we calculate the associated graded of the basic algebra of the nonprincipal block in the case of a semidirect product of an extraspecial p-group P of exponent p and order $p^3$ with a quaternion group of order eight with the centre acting trivially. In the case of $p=3$ , we give explicit generators and relations for the basic algebra as a quantised version of $kP$ . As a second example, we give explicit generators and relations in the case of a group of shape $2^{1+4}:3^{1+2}$ in characteristic two.

Stable invariance of the restricted Lie algebra structure of Hochschild cohomology

We show that the restricted Lie algebra structure on Hochschild cohomology is invariant under stable equivalences of Morita type between self-injective algebras. Thereby we obtain a number of positive characteristic stable invariants, such as the $p$-toral rank of $\mathrm{HH}^1(A,A)$. We also prove a more general result concerning Iwanaga-Gorenstein algebras, using a more general notion of stable equivalences of Morita type. Several applications are given to commutative algebra and modular representation theory. These results are proven by first establishing the stable invariance of the $B_\infty$-structure of the Hochschild cochain complex. In the appendix we explain how the $p$-power operation on Hochschild cohomology can be seen as an artifact of this $B_\infty$-structure. In particular, we establish well-definedness of the $p$-power operation, following some -- originally topological -- methods due to May, Cohen and Turchin, using the language of operads.

Correlation of HCV Infection and Creatinine Levels in Thalassemia Patients

The current investigation was conducted at the Center for Genetic Blood Disorders (on thalassemia). Between December 2019 and February 2020. Their ages range from one to forty. They have an past, thalassemia-ridden, with high creatinine levels. Tubes without EDTA were used to collect blood samples from 20 thalassemia individuals who had no kidney problems. a control group, a history of normal creatinine levels, and a restricted age range of 1 to 40 years. There are 120 patients total across the two groups, and all samples were used for the RT-PCR, creatinine level, and HCV ELISA test. The current study found that 20 of 120 individuals without kidney problems and 100 of 120 individuals with kidney defects both had HCV infections. Kidney disease is diagnosed by first determining the creatinine level, followed by ELISA and to determine the presence of IgM and IgG in the patient's serum. Creatinine levels in men are higher than those in women. The age group of 21–31 years in this study had more kidney defect instances (11) out of 100 (85%) than any other age group, according to the random sample size of the kidney defect group. (The age group of 21-31 was (0.63%) older than the age group of 20. The age group of 21–31 years in the normal kidney group (control group) was older than the group of 3–20 years (0.63%), and the serological test included the fast test for anti-HCV antibodies and the ELISA technique for confirmation. Infection rates were higher in the renal defect group than in the control groups (100/120 and 20/120, respectively). The age group of 21–31 years had more cases (11) out of 100 (0.85) than any other age group.

On unitriangular basic sets for symmetric and alternating groups

We study the modular representation theory of the symmetric and alternating groups. One of the most natural ways to label the irreducible representations of a given group or algebra in the modular case is to show the unitriangularity of the decomposition matrices, that is, the existence of a unitriangular basic set. We study how the unitriangular basic sets of the alternating and the symmetric groups are related and obtain several results of existence. We show that these sets do not always exist in the case of the alternating groups by studying two explicit cases in characteristic 3. We then consider the case of a symmetric algebra and we show how one can obtain unitriangular basic sets in this more general context.

On tilting complexes over blocks covering cyclic blocks

Let p be a prime number, k an algebraically closed field of characteristic p, a finite group, and G a normal subgroup of having a p-power index in . Moreover let B be a block of kG with a cyclic defect group and be the unique block of covering B. We study tilting complexes over the block and show that the block is a tilting-discrete algebra. Moreover we show that the set of all tilting complexes over is isomorphic to that over B as partially ordered sets.

Photo-crosslinked GelMA loaded with dental pulp stem cells and VEGF to repair critical-sized soft tissue defects in rats

BackgroundTissue engineering of skin and mucosa is essential for the esthetic and functional reconstruction of individuals disfigured by trauma, resection surgery, or severe burns while overcoming the limited amount of autograft and donor site morbidity. PurposeWe aimed to determine whether a combination of Gelatin-methacryloyl (GelMA) hydrogel scaffold alone or loaded with either dental pulp stem cells (DPSCs) and/or vascular endothelial growth factor (VEGF) could improve skin wound healing in rats. Materials and MethodsFour 10 mm full-thickness skin defects were created on the dorsum of 15 Sprague-Dawley rats. The wounds were treated with GelMA alone, GelMA+DPSCs, or GelMA+DPSCs+VEGF. Unprotected wounds were used as controls. Animals were euthanized at 1-, 2-, and 4 weeks post-surgery, and the healing wounds were harvested for clinical, histological, and RT-PCR analysis. ResultsNo signs of clinical inflammation were observed among all groups. Few and sparse mononuclear inflammatory cells were observed in GelMA+DPSCs and GelMA+DPSCs+VEGF groups at 2 weeks, with complete epithelialization of the wounds. At 4 weeks, the epidermis in GelMA+DPSCs and GelMA+DPSCs+VEGF groups was indistinguishable from the empty defect and GelMA groups. The decrease in cellularity and increase in density of collagen fibers were observed over time in both GelMA+DPSCs and GelMA+DPSCs+VEGF groups but were more evident in the GelMA+DPSCs+VEGF group. The GelMA+DPSCs+VEGF group showed a higher expression of the KER 10 gene at all time points compared with the other groups. Expression of Col1 A1 and TGFβ-1 were not statistically different over time neither among the groups. ConclusionGelMA scaffolds loaded with DPSCs, and VEGF accelerated the re-epithelialization of skin wounds.

Higher Prevalence of Chronic Endometritis in Women with Cesarean Scar Defect: A Retrospective Study Using Propensity Score Matching.

(1) Background: A cesarean scar defect may cause localized inflammation of the endometrial tissue, and various researchers believe that the presence of a cesarean scar defect is associated with chronic endometritis. However, there is no report on the possible association between cesarean scar defects and chronic endometritis thus far. This study aimed to assess the role of having a cesarean scar defect in a person's susceptibility to chronic endometritis. (2) Methods: This retrospective propensity-score-matched study comprised 1411 patients with chronic endometritis that were admitted to Henan Provincial People's Hospital in China from 2020 to 2022. Based on whether a cesarean scar defect was present or not, all cases were assigned to the cesarean scar defect group or the control group. (3) Results: Of the 1411 patients, 331 patients with a cesarean scar defect were matched to 170 controls. All unbalanced covariates between groups were balanced after matching. Before matching, the prevalence of chronic endometritis in the cesarean scar defect group and in the control group was 28.8% and 19.6%, respectively. After correcting for all confounding factors, a logistic regression analysis showed that cesarean scar defect occurrence may increase the risk of chronic endometritis (odds ratio (OR), 1.766; 95% confidence interval (CI), 1.217-2.563; p = 0.003). After matching, the prevalence of chronic endometritis was 28.8% in the cesarean scar defect group and 20.5% in the control group. Thus, even after correcting for all confounding factors, the logistic regression analysis still showed that a cesarean scar defect remained an independent risk factor for chronic endometritis prevalence (OR, 1.571; 95% CI, 1.021-2.418; p = 0.040). The findings were consistent throughout the sensitivity analyses. (4) Conclusions: The present results suggest that the onset of a cesarean scar defect may increase the risk of chronic endometritis.