205 research outputs found
Integrating metalloporphycenes into p-type NiO-based dye-sensitized solar cells
In the current work, we have explored a novel synthetic route towards metalated porphycenes and their use in p-type NiO-based dye-sensitized solar cells. Particular emphasis is placed on the influence that the relative positioning of the anchoring group exerts on the DSSC performance
Two novel mutations associated with ataxia-telangiectasia identified using an ion ampliSeq inherited disease panel
© 2017 Kuznetsova, Trofimov, Shubina, Kochetkova, Karetnikova, Barkov, Bakharev, Gusev and Sukhikh. Ataxia-telangiectasia (A-T), or Louis-Bar syndrome, is a rare neurodegenerative disorder associated with immunodeficiency. For families with at least one affected child, timely A-T genotyping during any subsequent pregnancy allows the parents to make an informed decision about whether to continue to term when the fetus is affected. Mutations in the ATM gene, which is 150 kb long, give rise to A-T; more than 600 pathogenic variants in ATM have been characterized since 1990 and new mutations continue to be discovered annually. Therefore, limiting genetic screening to previously known SNPs by PCR or hybridization with microarrays may not identify the specific pathog enic genotype in ATM for a given A-T family. However, recent developments in next-generation sequencing technology offer prompt high-throughput full-length sequencing of genomic fragments of interest. This allows the identification of the whole spectrum of mutations in a gene, including any novel ones. We report two A-T families with affected children and current pregnancies. Both families are consanguineous and originate from Caucasian regions of Russia and Azerbaijan. Before our study, no ATM mutations had been identified in the older children of these families. We used ion semiconductor sequencing and an Ion AmpliSeq ™ Inherited Disease Panel to perform complete ATM gene sequencing in a single member of each family. Then we compared the experimentally determined genotype with the affected/normal phenotype distribution in the whole family to provide unambiguous evidence of pathogenic mutations responsible for A-T. A single novel SNP was allocated to each family. In the first case, we found a mononucleotide deletion, and in the second, a mononucleotide insertion. Both mutations lead to truncation of the ATM protein product. Identification of the pathogenic mutation in each family was performed in a timely fashion, allowing the fetuses to be tested and diagnosed. The parents chose to continue with both pregnancies as both fetuses had a healthy genotype and thus were not at risk of A-T
Resonant light delay in GaN with ballistic and diffusive propagation
We report on a strong delay in light propagation through bulk GaN, detected
by time-of-flight spectroscopy. The delay increases resonantly as the photon
energy approaches the energy of a neutral-donor bound exciton (BX), resulting
in a velocity of light as low as 2100 km/s. In the close vicinity of the BX
resonance, the transmitted light contains both ballistic and diffusive
components. This phenomenon is quantitatively explained in terms of optical
dispersion in a medium where resonant light scattering by the BX resonance
takes place in addition to the polariton propagation.Comment: 4 pages, 4 figure
Schottky mass measurements of heavy neutron-rich nuclides in the element range 70\leZ \le79 at the ESR
Storage-ring mass spectrometry was applied to neutron-rich Au
projectile fragments. Masses of Lu, Hf, Ta,
W, and Re nuclei were measured for the first time. The
uncertainty of previously known masses of W and Os nuclei
was improved. Observed irregularities on the smooth two-neutron separation
energies for Hf and W isotopes are linked to the collectivity phenomena in the
corresponding nuclei.Comment: 10 pages, 9 figures, 2 table
Integrating metalloporphycenes into p-type NiO-based dye-sensitized solar cells
In the current work, we have explored a novel synthetic route towards metalated porphycenes and their use in p-type NiO-based dye-sensitized solar cells. Particular emphasis is placed on the influence that the relative positioning of the anchoring group exerts on the DSSC performance
Metal Hydrides Form Halogen Bonds: Measurement of Energetics of Binding
The formation of halogen bonds from iodopentafluorobenzene and 1-iodoperfluorohexane to a series of bis(η5-cyclopentadienyl)metal hydrides (Cp2TaH3, 1; Cp2MH2, M = Mo, 2, M = W, 3; Cp2ReH, 4; Cp2Ta(H)CO, 5; Cp = η5-cyclopentadienyl) is demonstrated by 1H NMR spectroscopy. Interaction enthalpies and entropies for complex 1 with C6F5I and C6F13I are reported (ΔH° = −10.9 ± 0.4 and −11.8 ± 0.3 kJ/mol; ΔS° = −38 ± 2 and −34 ± 2 J/(mol·K), respectively) and found to be stronger than those for 1 with the hydrogen-bond donor indole (ΔH° = −7.3 ± 0.1 kJ/mol, ΔS° = −24 ± 1 J/(mol·K)). For the more reactive complexes 2–5, measurements are limited to determination of their low-temperature (212 K) association constants with C6F5I as 2.9 ± 0.2, 2.5 ± 0.1, <1.5, and 12.5 ± 0.3 M–1, respectively
Проба с аллергеном туберкулезным рекомбинантным (Диаскинтест®) в диагностике туберкулеза легких в пульмонологической практике
Differential diagnosis of pulmonary tuberculosis and community-acquired pneumonia remains an urgent problem in primary health care despite the improvement of radiological and laboratory diagnostic methods.The aim of study was to evaluate the possibility of using a skin test with recombinant tuberculosis allergen (Diaskintest®, Generium, Russia) for the differential diagnosis of pulmonary tuberculosis and pneumonia.Methods. 119 cases of pulmonary tuberculosis first detected in the pulmonology department during differential diagnosis were analyzed. The diagnosis was verified by a liquid media culture in the BACTEC MGIT 960 system (BD, USA). All patients with suspected tuberculosis had a skin test with recombinant tuberculosis allergen upon admission. Statistical analysis was carried out using the statistical software package IBM SPSS Statistics 22.0. The differences were considered statistically significant at p < 0.05.Results. Most patients were of working age and had aggravating social risk factors 49 (41.2%), HIV-infection 75 (63.0%), drug addiction 44 (36.9%), or viral hepatitis C 33 (24.2%). As for the clinical forms, infiltrative and disseminated tuberculosis prevailed. Evaluation of the results of the «fast» methods of the diagnostic minimum showed that a positive result of the test with Diaskintest® was almost three times more likely than the positive result of bacterioscopy of a sputum smear with Ziehl–Neelsen staining. Mycobacterium tuberculosis DNA was detected in sputum using the GeneXpert MTB/RIF cartridge technology in 92.6% patients with a positive result of Diaskintest® skin test and a negative sputum bacterioscopy analysis.Conclusion. Is advisable to use Diaskintest® skin test in patients of a pulmonological hospital in the early stages and confirm the positive result with GeneXpert MTB/RIF to reduce the time for diagnosing tuberculosis and the patient’s bed-days in a non-specialized medical institution.Дифференциальная диагностика туберкулеза легких и внебольничной пневмонии, несмотря на совершенствование методов лучевой и лабораторной диагностики, остается актуальной проблемой первичного звена здравоохранения.Целью исследования явилась оценка возможности использования в диагностическом комплексе дифференциальной диагностики туберкулеза легких и пневмонии кожной пробы с аллергеном туберкулезным рекомбинантным (Диаскинтест®, АО Генериум, Россия).Материалы и методы. Проанализированы 119 впервые выявленных случаев туберкулеза легких при проведении дифференциальной диагностики. Диагноз верифицирован с помощью культурального метода на жидких средах в системе BACTEC MGIT 960 (BD, США). При поступлении в стационар у всех пациентов при подозрении на туберкулез выполнялась кожная проба с аллергеном туберкулезным рекомбинантным. Статистическая обработка проводилась с использованием пакета статистических программ IBM SPSS Statistics 22.0. Различия считались статистически значимыми при p < 0,05.Результаты. Отягощающие социальные факторы риска отмечены у 49 (41,2 %) пациентов трудоспособного возраста, наличие инфекции, вызванной вирусом иммунодефицита человека – у 75 (63,0 %), наркозависимость – у 44 (36,9 %), вирусный гепатит С – у 33 (24,2 %). По клиническим формам превалировали инфильтративный и диссеминированный туберкулез. При оценке результатов «быстрых» методов диагностического минимума положительный результат кожной пробы Диаскинтест® отмечался практически в 3 раза чаще такового при использовании метода бактериоскопии мазка мокроты с окраской по Цилю–Нильсену. У пациентов с положительным результатом кожной пробы Диаскинтест® и отрицательным анализом бактериоскопии мокроты в 92,6 % случаев установлено наличие ДНК микобактерий туберкулеза в мокроте методом картриджной технологии GeneXpert MTB/RIF.Заключение. Таким образом, у пациентов пульмонологического стационара целесообразно применение кожной пробы Диаскинтест® в ранние сроки, а при получении положительного результата – применение GeneXpert MTB/RIF, что позволит сократить сроки диагностики туберкулеза и пребывания пациента в непрофильном медицинском учреждении
- …