Solvent Effects on the Absorption and Emission Spectra of the [5-amino-1-bromoindolizin-3-yl](4-bromophenyl)methanone Molecule.

The effects of solvent on the absorption and emission spectra and dipole moments of the 5ABBM have been extensively studied in a series of solvents. The dipole moments in the excited state are observed to be greater than those in the ground-state in all the solvents studied for the chosen molecule. The dipole moment increase in the excited singlet state ranges from 2.42 to 24.14 D. The experimentally calculated ground state and excited state dipole moments were determined using the solvatochromatic shifts in the absorption and emission spectra as a function of dielectric constant (ɛ) and refractive index (n). These data are used to estimate the excited-state dipole moment using the experimentally determined ground-state dipole moment. A series of fifteen different organic solvents (toluene, methanol, n-butyl alcohol, ethyl acetate, DMS, acetonitrile, benzene, isopropyl alcohol, water, DMF, DCM, DIO, THF, ethanol, and octanol) were investigated at constant dye concentrations. Small changes in the fluorescence spectrum were observed for the different solvents; the highest fluorescence intensity was observed for DMS, and the lowest was observed for water. The Stokes shift in different solvents was studied for the 5ABBM molecule. This results in molecule being more polar in the excited state than in the ground state for the solvents used. The ground state dipole moments, HOMO-LUMO, and molecular electrostatic potential maps were also computed via ab initio calculations and evaluated via Gaussian 09 W software.

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Aims: To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve their risk stratification. Methods and results: A multicentre, international, retrospective cohort study was conducted in 25 tertiary hospitals in 13 countries between 1990 and 2015. All patients ≤16 years of age diagnosed with a genetically confirmed SCN5A mutation were included in the analysis. There was no restriction made based on their clinical diagnosis. A total of 442 children {55.7% boys, 40.3% probands, median age: 8.0 [interquartile range (IQR) 9.5] years} from 350 families were included; 67.9% were asymptomatic at diagnosis. Four main phenotypes were identified: isolated progressive cardiac conduction disorders (25.6%), overlap phenotype (15.6%), isolated long QT syndrome type 3 (10.6%), and isolated Brugada syndrome type 1 (1.8%); 44.3% had a negative electrocardiogram phenotype. During a median follow-up of 5.9 (IQR 5.9) years, 272 cardiac events (CEs) occurred in 139 (31.5%) patients. Patients whose mutation localized in the C-terminus had a lower risk. Compound genotype, both gain- and loss-of-function SCN5A mutation, age ≤1 year at diagnosis in probands and age ≤1 year at diagnosis in non-probands were independent predictors of CE. Conclusion: In this large paediatric cohort of SCN5A mutation-positive subjects, cardiac conduction disorders were the most prevalent phenotype; CEs occurred in about one-third of genotype-positive children, and several independent risk factors were identified, including age ≤1 year at diagnosis, compound mutation, and mutation with both gain- and loss-of-function.

Transcript profiling of genes expressed during fibre development in diploid cotton (Gossypium arboreum L.).

BACKGROUND: Cotton fibre is a single cell and it is one of the best platforms for unraveling the genes express during various stages of fibre development. There are reports devoted to comparative transcriptome study on fiber cell initiation and elongation in tetraploid cultivated cotton. However, in the present investigation, comparative transcriptome study was made in diploid cultivated cotton using isogenic fuzzy-lintless (Fl) and normal fuzzy linted (FL) lines belong to Gossypium arboreum, diploid species at two stages, 0 and 10 dpa (days post anthesis), using Affymetrix cotton GeneChip genome array. RESULT: Scanning electron microscopy (SEM) analysis uncovered the occurrence of few fibre cell initials in the Fl line as compared to many in Normal FL at -2 and 0 dpa. However, at 10 dpa there were no fibre cells found elongated in Fl but many elongated cells were found in FL line. Up-regulation of transcription factors, AP2-EREBP, C2H2, C3H, HB and WRKY was observed at 0 dpa whereas in 10 dpa transcription factors, AP2-EREBP, AUX/IAA, bHLH, C2H2, C3H, HB, MYB, NAC, Orphans, PLATZ and WRKY were found down regulated in Fl line. These transcription factors were mainly involved in metabolic pathways such as phytohormone signaling, energy metabolism of cell, fatty acid metabolism, secondary metabolism and other signaling pathways and are related directly or indirectly in fiber development. Quantitative real-time PCR was performed to check fold up or down-regulation of these genes and transcription factors (TFs) down regulated in mutants as compared to normal at 0 and 10 dpa. CONCLUSION: This study elucidates that the up-regulation of transcription factors like AP2-EREBP, C2H2, C3H, HB, WRKY and phytohormone signaling genes at 0 dpa and their down-regulation at the 10 dpa might have constrain the fibre elongation in fuzzy-lintless line. Along with this the down-regulation of genes involved in synthesis of VLCFA chain, transcripts necessary for energy and cell wall metabolism, EXPANSINs, arabinogalactan proteins (AGPs), tubulin might also be the probable reason for reduced growth of fibres in the Fl. Plant receptor-like kinases (RLKs), Leucine Rich Repeats) LRR- family protein and signal transduction coding for mitogen-activated protein kinase (MAPK) cascade, have been engaged in coordination of cell elongation and SCW biosynthesis, down-regulation of these might loss the function leads to reduced fibre growth.

Cardio-Oncology Recommendations for Pediatric Oncology Patients: An Australian and New Zealand Delphi Consensus.

Cardio-oncology is a new multidisciplinary area of expertise that seeks to pre-emptively and proactively address cardiac complications that emerge during and following cancer therapy. Modern therapies including molecular targeted therapy and immunotherapy have broadened the agents that can cause cardiac sequelae, often with complications arising within days to weeks of therapy. Several international guidelines have been developed for the acute monitoring of cardio-oncology side effects. However, none are specific to pediatrics. We have addressed this gap in the literature by undertaking a rigorous Delphi consensus approach across 11 domains of cardio-oncology care using an Australian and New Zealand expert group. The expert group consisted of pediatric and adult cardiologists and pediatric oncologists. This Delphi consensus provides an approach to perform risk and baseline assessment, screening, and follow-up, specific to the cancer therapeutic. This review is a useful tool for clinicians involved in the cardio-oncology care of pediatric oncology patients.

Genotyping-by-Sequencing Based Genetic Mapping Identified Major and Consistent Genomic Regions for Productivity and Quality Traits in Peanut.

With an objective of identifying the genomic regions for productivity and quality traits in peanut, a recombinant inbred line (RIL) population developed from an elite variety, TMV 2 and its ethyl methane sulfonate (EMS)-derived mutant was phenotyped over six seasons and genotyped with genotyping-by-sequencing (GBS), Arachis hypogaea transposable element (AhTE) and simple sequence repeats (SSR) markers. The genetic map with 700 markers spanning 2,438.1 cM was employed for quantitative trait loci (QTL) analysis which identified a total of 47 main-effect QTLs for the productivity and oil quality traits with the phenotypic variance explained (PVE) of 10-52% over the seasons. A common QTL region (46.7-50.1 cM) on Ah02 was identified for the multiple traits, such as a number of pods per plant (NPPP), pod weight per plant (PWPP), shelling percentage (SP), and test weight (TW). Similarly, a QTL (7.1-18.0 cM) on Ah16 was identified for both SP and protein content (PC). Epistatic QTL (epiQTL) analysis revealed intra- and inter-chromosomal interactions for the main-effect QTLs and other genomic regions governing these productivity traits. The markers identified by a single marker analysis (SMA) mapped to the QTL regions for most of the traits. Among the five potential candidate genes identified for PC, SP and oil quality, two genes (Arahy.7A57YA and Arahy.CH9B83) were affected by AhMITE1 transposition, and three genes (Arahy.J5SZ1I, Arahy.MZJT69, and Arahy.X7PJ8H) involved functional single nucleotide polymorphisms (SNPs). With major and consistent effects, the genomic regions, candidate genes, and the associated markers identified in this study would provide an opportunity for gene cloning and genomics-assisted breeding for increasing the productivity and enhancing the quality of peanut.

Multiple left-sided stenotic lesions: outcomes after mitral valve surgery. Arguments for abandoning the eponym 'Shone syndrome'.

OBJECTIVES: Management of patients with left ventricular inflow and outflow stenotic lesions can be challenging. Our purpose was to characterize such patients and review the long-term outcomes of those requiring mitral valve (MV) surgery. METHODS: We performed a retrospective study of 40 patients with subaortic, aortic and/or arch stenotic lesion(s) who underwent MV surgery between 1985 and 2016. RESULTS: Associated left-sided stenotic lesions included aortic valve stenosis in 20 patients (50%), subaortic stenosis in 19 (47.5%) patients, coarctation in 23 (57.5%) patients and hypoplastic aortic arch in 16 (40%) patients. Nineteen patients (47.5%) had a supravalvular mitral ring and 15 (37.5%) patients had a parachute MV. The overall mortality rate was 32.5% (13 patients) with a mean follow-up of 16.3 ± 1.8 years. Being <6 months of age at the time of MV surgery (P = 0.02) and having had previous neonatal aortic valve and/or arch surgery (P = 0.01) were associated with death. The incidence of reoperation (95% confidence interval) at 1, 5, 10 and 15 years was 38% (23-53%), 54% (38-70%), 68% (53-84%) and 85% (72-98%), respectively. CONCLUSIONS: Results after MV surgery for children with associated left-sided stenotic lesions are closely age-related. The need for mitral intervention shortly after the initial aortic valve and/or arch intervention was a predictor of dismal outcomes.

Ten-year experience in atenolol use and exercise evaluation in children with genetically proven long QT syndrome.

BACKGROUND: Due to its availability, atenolol is the primary beta-blocker used in Australia for children with long QT syndrome. There is limited data on long-term follow-up of its use. METHODS: A single-tertiary-center, retrospective, observational study investigating all children and adolescents who had genetically proven long QT syndrome type 1 (LQT1) and type 2 (LQT2) was conducted. Their pretreatment exercise tests were evaluated for QTc intervals into the recovery phase of exercise. RESULTS: Eighty six patients were identified (LQT1, 67, and LQT2, 19) from 2004 to 2014. The majority (86%) of patients were initially referred for family screening. Atenolol was administered at a mean dose of 1.58 ± 0.51 mg/kg/day. During the median follow-up period of 4.29 years, only one proband developed ventricular arrhythmia whilst taking atenolol, No patient had cardiac arrest or aborted cardiac arrest. With respect to side effects of atenolol, only two patients had intolerable side effects necessitating changes of medication. Evaluation of exercise tests (pretreatment) demonstrated that corrected QT (QTc) intervals at 2-3 min into the recovery phase of exercise were significantly prolonged for LQT1 patients. LQT1 patients with transmembrane mutation had longer QTc intervals than their C-terminus mutation counterparts, reaching statistical significance at 3 min into the recovery phase of exercise. CONCLUSIONS: Atenolol is an effective treatment for genetically proven LQT1 and LQT2 children and adolescents, with good tolerability. In LQT1 patients, QTc intervals at 2-3 min into the recovery phase of exercise were significantly prolonged, particularly in patients with transmembrane mutations.

Anomalous Aortic Origin of the Left Coronary Artery From the Right Coronary Sinus: Diagnosis and Surgical Repair of Intramural Retrovalvular Coronary Artery.

Anomalous aortic origin of the left coronary artery from the right coronary sinus is a rare congenital anomaly that may cause sudden death. Direct translocation of the left coronary artery could be difficult due to its intramural course and proximity to the aortic valve. We described the surgical management of a child after sudden hemodynamic collapse and the coronary translocation technique that prevented distortion of the aortic root and allowed successful translocation of the abnormal coronary artery despite its intramural course immediately behind the aortic valve commissure.

Neonatal pulmonary artery thrombosis.

Pulmonary artery thrombosis in neonates is a rare entity. We describe two neonates with this diagnosis; their presentation, evaluation, and management. These cases highlight the importance of this differential diagnosis when evaluating the cyanotic neonate.