Defect Group Research Articles

Специализация машиностроительного производства

Specialization types such as subject, technological, their levels and areas of their effective application are viewed. Since any specialized production is aimed at running-out production, so subject specialization is primary, for example, in the produc-tion of automobiles, as for technological specialization, it is secondary, for it shows a technological method to allow making a product, for example, in the foundry production. The level of subject specialization and the level of technological special-ization should dovetail into one another. It is shown that the types of production (unit, full-scale, mass) are based on the cor-responding levels of subject and technological specialization, the lower the level of subject specialization, the lower the level of technological specialization. For example, small volume manufacturing is due to a low level of subject specializa-tion. An increase in the level of subject specialization results in the level increase in technological specialization - manufac-turing production process management, etc. Subject-specific specialized production can be divided into two groups: the first group includes the production of products that meet human needs, for example, vehicles and means of their engineering sup-port, for example, machine tools. The second group includes specialized production of their elements (assemblies, parts), for example, pumps, motors, screws, nuts, etc. The problem of specialized production management of products related to the sec-ond group is the lack of complete information about their design diversity and frequency of application. To solve the prob-lem, it is proposed to consider the products of the second group in a modular representation, which allows all their diversity to be divided into two groups: functional technological modules (FTM) that ensure the performance of a product's function-al purpose and functional service modules (FSM) that ensure (FTM) functioning. On this basis, a systematic approach ap-plicable for specialized production management for products of the second group, is given It is shown that for the implemen-tation of the proposed system approach in the specialized production management for the products of the second group, it is necessary to build a database of two types: FTM database and the FSM database.

Influence of Manufacturing Process Modularity on Lead Time Performances and Complexity

In principle, modular or integral character of manufacturing lines depends on the topological designs of products and determined operation tasks. On the other hand, in specific situations there is an articulated need for modular design in smart manufacturing systems since modular layouts are a crucial step towards agile production via smart manufacturing. The aim of this paper is to explore how the modular layout relates to manufacturing lead time (MLT) and to operational complexity of smart manufacturing systems. For this purpose, topologically different models of alternative process layouts were simulated and tested, while MLT values were obtained using Tecnomatix Plant Simulation. The obtained positive findings of this research could be useful not only in selection of the most suitable process design from the alternative ones, but especially in deepening the knowledge and bettering understanding of the concept of optimal network modularity.

REAL BLOCKS WITH DIHEDRAL DEFECT GROUPS REVISITED

AbstractThe Frobenius–Schur indicators of characters in a real $2$ -block with dihedral defect groups have been determined by Murray [‘Real subpairs and Frobenius–Schur indicators of characters in 2-blocks’, J. Algebra322 (2009), 489–513]. We show that two infinite families described in his work do not exist and we construct examples for the remaining families. We further present some partial results on Frobenius–Schur indicators of characters in other tame blocks.

Character Theory and Categorification

Over a hundred years after the work of Frobenius and Schur, the sheer enormity of what is not known about the character theory of symmetric and alternating groups continues to surprise and awe the uninitiated. How does one decompose the tensor product of a pair of complex characters? Or the restriction of a complex character to a Sylow or wreath product subgroup? Can we understand the vanishing sets of complex characters? What about the asymptotic behaviour of complex characters? What are the dimensions of the modular characters? These questions have been hailed as some of the definitive open problems in representation theory and algebraic combinatorics, they have deep connections with Lie theory, group theory, local-global conjectures in representation theory of finite groups, symplectic geometry, complexity theory, statistical mechanics and quantum information theory. The overarching theme of this proposal is the use of hidden, richer representation theoretic structures arising in modular, local-global, and categorical representation theory in order to prove and disprove conjectures concerning characters of symmetric and alternating groups.

Comparative study of next generation sequencing and immunohistochemistry on molecular classification of endometrial carcinoma

Objective: To investigate the differences in molecular classification of endometrial carcinoma (EC) between various technical methods and to explore molecular classification schemes suitable for Chinese population. Methods: The study used a comprehensive scheme of next generation sequencing (NGS) and immunohistochemistry for molecular classification of 254 EC cases that were obtained at Department of Pathology, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China from April 2021 to March 2022. According to the recommended threshold of Sanger sequencing which was approximate-20% variant allele fraction (VAF), NGS data were extracted to simulate the results of Sanger sequencing. Results: The 254 EC patients had a mean age of 51 years (range, 24 to 89 years). Combination of POLE (9-14 exons), TP53 total exons and microsatellite instability (MSI) detection was a better single scheme than NGS alone, while combination of MSI fragment analysis and conventional immunohistochemistry was the best solution and seemed best aligned with TCGA data and recent studies. POLE ultramuted type, mismatch repair defect type, TP53 mutant type and non-specific molecular characteristic type accounted for 11.4% (29/254), 31.5% (80/254), 22.4% (57/254) and 34.6% (88/254) of the cases, respectively. If Sanger sequencing was adopted for POLE and TP53 detection, the frequencies of these EC types were 9.1% (23/254), 31.5% (80/254), 12.9% (33/254) and 46.6% (118/254), respectively, with greatly increasing non-specific molecular characteristics cases. If POLE was detected by Sanger sequencing and others by immunohistochemistry, they were 9.1% (23/254), 42.2% (92/218), 13.8% (35/254) and 40.9% (105/254), respectively, with increasing the false positive rates of the mismatch repair defect group. Conclusions: Small and medium-sized NGS panels with MSI detection is a better solution than NGS alone. Sanger sequencing is currently available for POLE mutation detection, which is not sensitive enough for TP53 mutation detection, and seems equivalent to the efficiency of TP53 by immunohistochemistry. Further optimization of small and medium-sized NGS panels covering MSI detection and POLE and TP53 full exons may be the best choice for the future to meet national conditions.

Application of Modular Expression of Bond Space in Muzzle Disturbance Analysis

In order to simulate the complex dynamic behavior of automata system and analyze muzzle disturbance, a modular dynamic model of automata was established based on bond space theory. The bond space modules of the cradle, gun box, barrel and projectile were defined, and the state equations of each module of the automata were deduced in terms of momentum space vector and position change space vector and their first derivative. The whole model is established by connecting the generalized potential source and generalized flow source of each module. On this basis, the muzzle disturbance analysis is carried out by solving the model, and the simulation results are consistent with the test results of the continuous firing test. It shows that the muzzle disturbance analysis model based on the modular representation of bond space is correct, and provides a new method for the dynamic analysis of the projectile and gun coupling launching system.

Glossectomy for the treatment of oral cavity carcinoma: Quantitative, functional and patient-reported quality of life outcomes differ by four glossectomy defects

ObjectiveThe goal was to characterize four clinically distinct glossectomy defects to establish significant quantitative cut points using functional metrics, the MD Anderson Dysphagia Index (MDADI) and speech intelligibility. MethodsPopulation included 101 patients treated with surgery, adjuvant radiation per NCCN guidelines, and ≥ 12 months follow-up. ResultsDefect groups: subtotal hemiglossectomy (1), hemiglossectomy (2), extended hemiglossectomy (3) and oral glossectomy (4) were compared: All outcomes supported a four defect model. Intergroup comparison of outcomes with subtotal hemiglossectomy as reference (p value): Tongue Protrusion <0.001,<0.001,<0.001; Elevation <0.001,<0.001,<0.001; Open Mouth Premaxillary Contact Elevation <0.001,<0.001,<0.001; Obliteration 0.6,<0.001,<0.001; Normalcy of Diet, <0.3,<0.001,<0.001; Nutritional Mode, <0.9,<0.8,<0.001; Range of Liquids, <0.4,<0.016,<0.02; Range of Solids, <0.5,<0.004,<0.001; Eating in Public, <0.2,<0.002,<0.03; Understandability of Speech, <0.9,<0.001,<0.001; Speaking in Public, <0.4,<0.03,<0.001; MDADI, <0.4,<0.005,<0.01; Single Word Intelligibility, <0.4,<0.1,<0.001; Sentence Intelligibility, <0.5,<0.08,<0.001; Words Per Minute Intelligibility, <0.6,<0.04,<0.001; Sentence Efficiency Ratio, <0.4,<0.03,<0.002. Proportion of patients by 4 defect groups who underwent: tissue transplantation, 51%,93.9%,100%,100%.Radiation,24%,67%,88%,80%.Between hemiglossectomy and extended hemiglossectomy, the defect extends into the contralateral floor of the mouth and/or the anterior tonsillar pillar; resection of these subunits limits tongue mobility with an impact on functional outcome and MDADI. Between extended hemiglossectomy and oral glossectomy, the defect extends to include the tip of the tongue and appears to impact functional outcome and MDADI. ConclusionsSubtotal hemiglossectomy, hemiglossectomy, extended glossectomy and oral glossectomy are associated with quantitative (elevation, protrusion, open mouth premaxillary contact and obliteration), qualitative (speech and swallowing) and MDADI differences, suggesting that these 4 ordinal defect groups are distinct.

Sunspot activity and birth defects among Texas births (1999-2016).

Building on findings that linked higher levels of sunspot (SS) activity with a range of health and adverse birth outcomes, we sought to understand how SS activity over a 17-year time period may be correlated with the occurrence of birth defects. Data from the Texas Birth Defects Registry, vital events from the Texas Center for Health Statistics, and mean monthly numbers of sunspots from the National Oceanic and Atmospheric Administration were utilized. Poisson regression was used to calculate crude/adjusted prevalence ratios (cPRs/aPRs) and 95% confidence intervals for three quartiles (Q) of increasing SS activity (compared to a referent of low activity) and 44 birth defects (31 non-cardiac; 13 cardiac) with estimated dates of conception from 1998 to 2016. We found moderately protective aPRs (range: 0.60-0.89) in a little over half of the case groups examined in our quartiles of higher SS activity (19 non-cardiac; 6 cardiac), after adjusting for maternal age, race/ethnicity, and education. Particularly protective aPRs in the highest SS quartiles (Q3-4) were noted for: anophthalmia, cataract, gastroschisis, trisomy 18, ventricular septal defects, atrial septal defects, and pulmonary valve atresia or stenosis. Conversely, modestly elevated aPRs were noted for two defect groups (agenesis, aplasia, and hypoplasia of the lung and microcephaly [Q2-3]). Following an additional adjustment of year of conception, results remained similar although many of the estimates were attenuated. The seemingly protective associations between increasing SS activity may be an artifact of increasing spontaneous abortions that occur following conception during these periods of heightened SS activity.

Elevated erythroferrone distinguishes erythrocytosis with inherited defects in oxygen-sensing pathway from primary familial and congenital polycythaemia.

Congenital erythrocytoses represent a heterogenous group of rare defects of erythropoiesis characterized by elevated erythrocyte mass. We performed molecular-genetic analysis of 21 Czech patients with congenital erythrocytosis and assessed the mutual link between chronic erythrocyte overproduction and iron homoeostasis. Causative mutations in erythropoietin receptor (EPOR), hypoxia-inducible factor 2 alpha (HIF2A) or Von Hippel-Lindau (VHL) genes were detected in nine patients, including a novel p.A421Cfs*4 EPOR and a homozygous intronic c.340+770T>C VHL mutation. The association and possible cooperation of five identified missense germline EPOR or Janus kinase 2 (JAK2) variants with other genetic/non-genetic factors in erythrocytosis manifestation may involve variants of Piezo-type mechanosensitive ion channel component 1 (PIEZO1) or Ten-eleven translocation 2 (TET2), but this requires further research. In two families, hepcidin levels appeared to prevent or promote phenotypic expression of the disease. No major contribution of heterozygous haemochromatosis gene (HFE) mutations to the erythrocytic phenotype or hepcidin levels was observed in our cohort. VHL- and HIF2A-mutant erythrocytosis showed increased erythroferrone and suppressed hepcidin, whereas no overproduction of erythroferrone was detected in other patients regardless of molecular defect, age or therapy. Understanding the interplay between iron metabolism and erythropoiesis in different subgroups of congenital erythrocytosis may improve current treatment options.

Pregnancy in primary immunodeficiency diseases: The PREPI study

Primary immunodeficiencies (PID) are a heterogeneous group of rare inborn immunity defects. As management has greatly improved, morbidity and mortality are reduced in this population, while our knowledge on pregnancy's unfolding and outcome remains scarce. We conducted a retrospective monocentric study to study pregnancy outcomes in women with PID. The study cohort consisted of women over 18 included in the national registry for PID (CEREDIH), living in the greater Paris area, reporting ≥1 pregnancy. Data were collected through a standardized questionnaire and medical records. We analyzed PID features, pregnancy course and outcome, and neonatal features (NCT04581460). We studied 93 women with PID (27 combined immunodeficiencies, 51 predominantly antibody deficiencies, and 15 innate immunodeficiencies) and their 222 pregnancies (67, 119, and 36 in each group, respectively). One hundred fifty-four (69%) of 222 pregnancies led to 157 live births, including 4 severe preterm births (3%), in the range of pregnancy outcome in the French general population. In a multivariate model, poor obstetrical outcome (fetal loss or pregnancy termination) was associated with history of severe infection (adjusted odds ratio 0.28, 95% confidence interval 0.11-0.67, P= .005). Only 59% pregnancies were led with optimal anti-infective prophylaxis; severe infections were reported in only 2 pregnancies (1%). One infant died during the neonatal period. Pregnancy is achievable in women with a wide group of PID. Prematurity is increased and history of severe infection is associated with significant increase of fetal loss/pregnancy termination. Adjustment of care during pregnancy needs to be better delivered.

Tuning of Higher-Order Topological Corner States in a Honeycomb Elastic Plate

Different from the traditional bulk-edge correspondence principle, the discovery of higher-order topological states has generated widespread interest. In a second-order, two-dimensional elastic wave topological insulator, the fluctuation information can be confined to the corners, with the state being topologically protected. To better apply the topological corner states, a cleverly designed mechanical structure is used to achieve the adjustment of the topological corner states on a two-dimensional elastic plate. The energy-band inversion can be achieved by switching the material of the inner and outer brackets of the unit cell of the honeycomb elastic plate. The topological corner states can be observed at the boundary of two different topological phase structures in the finite lattice using finite-element software. The robustness of the topological corner state is verified by setting up defective control groups at the corner. In addition, the topological corner states of this honeycomb elastic plate are discussed in terms of positional tunability. The honeycomb elastic plate can provide a reference for the design of devices for the local control of elastic waves and energy harvesting due to the possibility of modulation of topological corner states, which is beneficial for the application of topological corner states in practice.

Real Characters in Nilpotent Blocks

We prove that the number of irreducible real characters in a nilpotent block of a finite group is locally determined. We further conjecture that the Frobenius–Schur indicators of those characters can be computed for p=2\\documentclass[12pt]{minimal} \\usepackage{amsmath} \\usepackage{wasysym} \\usepackage{amsfonts} \\usepackage{amssymb} \\usepackage{amsbsy} \\usepackage{mathrsfs} \\usepackage{upgreek} \\setlength{\\oddsidemargin}{-69pt} \\begin{document}$$p=2$$\\end{document} in terms of the extended defect group. We derive this from a more general conjecture on the Frobenius–Schur indicator of projective indecomposable characters of 2-blocks with one simple module. This extends results of Murray on 2-blocks with cyclic and dihedral defect groups.

On Frobenius exact symmetric tensor categories

A fundamental theorem of P. Deligne (2002) states that a pre-Tannakian category over an algebraically closed field of characteristic zero admits a fiber functor to the category of supervector spaces (i.e., is the representation category of an affine proalgebraic supergroup) if and only if it has moderate growth (i.e., the lengths of tensor powers of an object grow at most exponentially). In this paper we prove a characteristic $p$ version of this theorem. Namely, we show that a pre-Tannakian category over an algebraically closed field of characteristic $p>0$ admits a fiber functor into the Verlinde category $\mathrm{Ver}_p$ (i.e., is the representation category of an affine group scheme in $\mathrm{Ver}_p$) if and only if it has moderate growth and is Frobenius exact. This implies that Frobenius exact pre-Tannakian categories of moderate growth admit a well behaved notion of Frobenius-Perron dimension. It follows that any semisimple pre-Tannakian category of moderategrowth has a fiber functor to $\mathrm{Ver}_p$ (so in particular Deligne's theorem holds on the nose for semisimple pre-Tannakian categories in characteristics $2$,$3$). This settles a conjecture of the third author from 2015. In particular, this result applies to semisimplifications of categories of modular representations of finite groups (or, more generally, affine group schemes), which gives new applications to classical modular representation theory. For example, it allows us to characterize, for a modular representation $V$, the possible growth rates of the number of indecomposable summands in $V^{\otimes n}$of dimension prime to $p$.

TREC/KREC indicators in newborns at gestation 28–34 weeks

RelevancePrimary immunodeficiency states are a heterogeneous group of congenital defects of cells of the immune system, which are clinically manifested in the form of recurrent infectious and autoimmune diseases of varying severity, as well as malignant neoplasms.To determine percentile TREC/KREC indices in premature newborns with various infectious perinatal pathology. Materials and methodsIn order to determine the quantitative content of TREC/KREC copies in peripheral blood, 39 premature infants with various infectious perinatal pathology were examined, which was characterized by the presence of signs of an inflammatory process at the time of determining TREC/KREC, who were in the pediatric department for premature newborns at the RNPC “Mother and Child”. Results and conclusionThe examined infants were born at the gestation period of 28–34 (IU = 32.5 (28.0–33.7)) weeks.The examined infants were born at the gestation period of 28–34 (IU = 32.5 (28.0–33.7)) weeks. Percentile values of quantitative TREC indicators (number of copies × 106 leukocytes) were: 3 percentile – 1,511.00, 10 percentile – 3,715.00, 25 percentile – 7,426.00, 50 percentile – 11,355.00, 75 percentile – 26,101.50, 90 percentile – 35,047.50, 97 the percentile is 44,582.50.Percentile values of quantitative KREC indicators (number of copies × 106 leukocytes) were: 3 percentile - 1,526.50,10 percentile - 2,620.00, 25 percentile - 3,535.00, 50 percentile - 12,251.00, 75 percentile - 24,173.00, 90 percentile - 33,130.00, 97 percentile - 73,231.00.

Constructing the quinonyl groups and structural defects in carbon for supercapacitor and capacitive deionization applications

The structural defects and oxygen-containing functional groups of carbon materials as electrode materials for supercapacitors or capacitive deionization devices are critical to their electrochemical performance. The tuning of surface oxygen-containing functional groups and carbon defects during pyrolysis is key to achieve a high performance in ion storage. Herein, quinonyl-dominant defective porous carbon is prepared by a pyrolysis and cross-linking route using lavender stem and potassium acetate as precursor. Benefiting from the presence of abundant defect and surface quinonyl groups, porous carbon shows an ultra-high specific capacitance of 401 F g−1 (1 A g−1) and a high capacitance retention of 63% at a high current density of 100 A g−1 in a KOH solution. Meanwhile, as a capacitive deionization electrode material, it also exhibited a high adsorption capacity of 25.5 mg g−1 in 500 mg L-1 NaCl solution at 1.2 V. Theoretical density functional theory (DFT) calculation demonstrates that surface quinonyl groups and carbon defects can synergistically facilitate the adsorption of K+ and Na+ during the charge/discharge process. This work provides a new perspective for understanding the role of surface oxygen-containing groups and intrinsic defects of porous carbon materials in electrochemical energy storage and desalination applications.

99mTc-MAA accumulation within tumor in preoperative lung perfusion SPECT/CT associated with occult lymph node metastasis in patients with clinically N0 non-small cell lung cancer

Background99mTc-MAA accumulation within the tumor representing pulmonary arterial perfusion, which is variable and may have a clinical significance. We evaluated the prognostic significance of 99mTc-MAA distribution within the tumor in non-small cell lung cancer (NSCLC) patients in terms of detecting occult nodal metastasis and lymphovascular invasion, as well as predicting the recurrence-free survival (RFS).MethodsTwo hundred thirty-nine NSCLC patients with clinical N0 status who underwent preoperative lung perfusion SPECT/CT were retrospectively evaluated and classified according to the visual grading of 99mTc-MAA accumulation in the tumor. Visual grade was compared with the quantitative parameter, standardized tumor to lung ratio (TLR). The predictive value of 99mTc-MAA accumulation with occult nodal metastasis, lymphovascular invasion, and RFS was assessed.ResultsEighty-nine (37.2%) patients showed 99mTc-MAA accumulation and 150 (62.8%) patients showed the defect on 99mTc-MAA SPECT/CT. Among the accumulation group, 45 (50.5%) were classified as grade 1, 40 (44.9%) were grade 2, and 4 (4.5%) were grade 3. TLR gradually and significantly increased from grade 0 (0.009 ± 0.005) to grade 1 (0.021 ± 0.005, P < 0.05) and to grade 2–3 (0.033 ± 0.013, P < 0.05). The following factors were significant predictors for occult nodal metastasis in univariate analysis: central location, histology different from adenocarcinoma, tumor size greater than 3 cm representing clinical T2 or higher, and the absence of 99mTc-MAA accumulation within the tumor. Defect in the lung perfusion SPECT/CT remained significant at the multivariate analysis (Odd ratio 3.25, 95%CI [1.24 to 8.48], p = 0.016). With a median follow-up of 31.5 months, the RFS was significantly shorter in the defect group (p = 0.008). Univariate analysis revealed that cell type of non-adenocarcinoma, clinical stage II-III, pathologic stage II-III, age greater than 65 years, and the 99mTc-MAA defect within tumor as significant predictors for shorter RFS. However, only the pathologic stage remained statistically significant, in multivariate analysis.ConclusionThe absence of 99mTc-MAA accumulation within the tumor in preoperative lung perfusion SPECT/CT represents an independent risk factor for occult nodal metastasis and is relevant as a poor prognostic factor in clinically N0 NSCLC patients. 99mTc-MAA tumor distribution may serve as a new imaging biomarker reflecting tumor vasculatures and perfusion which can be associated with tumor biology and prognosis.

Effects of CYP2C9 and CYP2C19 genetic polymorphisms on the pharmacokinetics and pharmacodynamics of gliclazide in healthy subjects.

Gliclazide metabolism is mediated by genetically polymorphic CYP2C9 and CYP2C19 enzymes. We investigated the effects of CYP2C9 and CYP2C19 genetic polymorphisms on the pharmacokinetics and pharmacodynamics of gliclazide. Twenty-seven Korean healthy volunteers were administered a single oral dose of gliclazide 80mg. The plasma concentration of gliclazide was quantified for thepharmacokinetic analysis and plasma concentrations of glucose and insulin were measured as pharmacodynamic parameters. The pharmacokinetics of gliclazide showed a significant difference according to the number of defective alleles of combined CYP2C9 and CYP2C19. The two defective alleles group (group 3) and one defective allele group (group 2) showed 2.34- and 1.46-fold higher AUC0-∞ (P < 0.001), and 57.1 and 32.3% lower CL/F (P < 0.001), compared to those of the no defective allele group (group 1), respectively. The CYP2C9IM-CYP2C19IM group had AUC0-∞ increase of 1.49-fold (P < 0.05) and CL/F decrease by 29.9% (P < 0.01), compared with the CYP2C9 Normal Metabolizer (CYP2C9NM)-CYP2C19IM group. The CYP2C9NM-CYP2C19PM group and CYP2C9NM-CYP2C19IM group showed 2.41- and 1.51-fold higher AUC0-∞ (P < 0.001), and 59.6 and 35.4% lower CL/F (P < 0.001), compared to those of the CYP2C9NM-CYP2C19NM group, respectively. The results represented that CYP2C9 and CYP2C19 genetic polymorphisms significantly affected the pharmacokinetics of gliclazide. Although the genetic polymorphism of CYP2C19 had a greater effect on the pharmacokinetics of gliclazide, the genetic polymorphism of CYP2C9 also had a significant effect. On the other hand, plasma glucose and insulin responses to gliclazide were not significantly affected by the CYP2C9-CYP2C19 genotypes, requiring further well-controlled studies with long-term dosing of gliclazide in diabetic patients.

New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly.

Introduction: FATCO (Fibular Aplasia, Tibial Campomelia and Oligosyndactyly) is a very infrequent skeletal dysplasia classified within the limb hypoplasia-reduction defects group whose genetic cause has not yet been identified. The advent of next-generation sequencing is enabling the diagnosis of diseases with no previously known genetic cause. Methods: We performed a thorough autopsy on a fetus whose pregnancy was legally terminated due to severe malformations detected by ultrasound. A trio exome was run to identify the genetic cause and risk of recurrence. Previous literature of similar cases was systematically searched. Results: Anatomopathological analyses revealed complete fibular aplasia, shortened and campomelic tibia, absent ankle joint, club right foot and a split foot malformation, leading to the diagnosis of FATCO. Exome sequencing showed that the female fetus carried a de novo nonsense variant in DLX5. The literature search permitted the collection of information on 43 patients with FATCO, the majority of whom were males diagnosed postnatally. In most cases, lower limbs were affected exclusively, but in 39.5% of cases the upper limbs were also affected. Conclusion: The pathologies associated with DLX5 variants encompass a wide spectrum of manifestations ranging from abnormalities exclusively in the hands and feet to long bones such as the tibia and fibula.

Outcome of Management of Tetralogy of Fallot in a Cardiac Center of a Tertiary Care Hospital in Bangladesh

Background: Congenital heart diseases (CHD) represent one of the major groups of birth defects and make up approximately 1% of human malformations. Incidence of congenital heart disease is 8-10/1000 live births. The incidence is higher in premature infants. In Bangladesh incidence of congenital heart diseases was found up to 25/1000 live birth in a one year study conducted in CMH Dhaka. Congenital cyanotic heart disease accounts for less than 25% of total congenital cardiac defects. In TOF the lungs are under-perfused as blood shunts from right to left bypassing the lungs. TOF constitutes 5-7% of congenital heart disease. It is the commonest congenital cyanotic heart disease in Bangladesh. Objective: The aim of this study was to assess outcome of management of Tetralogy of Fallot in a cardiac center of a tertiary care hospital in Bangladesh. Methodology: It was a retrospective observational study and was conducted in the department of Pediatric Cardiology of Combined Military Hospital (CMH), Dhaka, Bangladesh from January 2015 to December 2016. We included 50 patients with TOF taking treatment from our department. All the patients were divided into three groups according to treatment type. Medical management group, palliative surgery group and total intra cardiac repair group and their outcome were assessed. Results: In our study we found 6 (12%) patients were in medical management group, 8 (16%) were in palliative surgery group and 36 (72%) were in total intra cardiac repair group. Among them 33 (66%) were male and 17 (34%) were female. Majority patients 30 (60%) were in less than 3 years of age. In medical management group all the patients had oxygen saturation &lt;80%, 4 (66.68%) patients reduced frequency of hyper-cyanotic spell, 1 (16.67%) patient had cerebral abscess. In palliative surgery group 6 (75%) patients had &gt;90% oxygen saturation, 2 (25%) had &lt;90% oxygen saturation, tet spell reduced in all the cases. After total intra cardiac repair no patient had .....

Tambara-Yamagami, loop groups, bundles and KK-theory

This paper is part of a sequence interpreting quantities of conformal field theories K-theoretically. Here we give geometric constructions of the associated module categories (modular invariants, nimreps, etc). In particular, we give a KK-theory interpretation of all modular invariants for the loop groups of tori, as well as most known modular invariants of loop groups. In addition, we find unexpectedly that the Tambara-Yamagami fusion category has an elegant description as bundles over a groupoid, and use that to interpret its module categories as KK-elements. We establish reconstruction for the doubles of all Tambara-Yamagami categories, generalising work of Bischoff to even-order groups. We conclude by relating the modular group representations coming from finite groups and loop groups to the Chern character and to the Fourier-Mukai transform respectively.