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The optical constants of single-crystal AlxGa1−xP and AlxGa1−xAs have been widely studied at various Al compositions but have not yet been thoroughly investigated as polycrystalline materials. Using variable-angle spectroscopic ellipsometry, we estimate and analyze the optical constants of polycrystalline Al0.25Ga0.75P and Al0.9Ga0.1As that were non-epitaxially deposited at deposition temperatures of either 250 or 420 °C, and with various dopant species, dopant concentrations, and V/III flux ratios. For wavelengths of 350–400 nm, decreasing the V/III ratio increases the refractive index of Be-doped polycrystalline Al0.25Ga0.75P. For wavelengths >500 nm, as the targeted Be dopant concentration increases for polycrystalline Al0.25Ga0.75P, the amount the extinction coefficient increases and the indirect bandgap decreases depends on the V/III ratio. Furthermore, Si-doped polycrystalline Al0.25Ga0.75P has significantly smaller extinction coefficient values than when it is Be-doped, for the same V/III ratio and targeted doping concentration, at wavelengths >500 nm. Based on our findings, we hypothesize that the dopant species, dopant concentration, and the V/III ratio dictate various types of defect concentrations, which then affect the optical constants and indirect bandgap of polycrystalline Al0.25Ga0.75P. Additionally, for wavelengths >500 nm, we find that polycrystalline Al0.25Ga0.75P and Al0.9Ga0.1As have the lowest extinction coefficient values when deposited at 420 °C, as opposed to 250 °C. Thus, we hypothesize that the deposition temperature is the most significant factor in dictating the optical constants of these polycrystalline III-Vs. Ultimately, this work demonstrates alternative methods to tune the optical constants of polycrystalline Al0.25Ga0.75P and Al0.9Ga0.1As, as opposed to tuning the Al composition. [ABSTRACT FROM AUTHOR]

Background: Recent HIV infection surveillance can help to identify populations and geographies with active transmission. We compared risk factors among recent and long-term infections from the initial ten months of [...]

We examine the use of Laguerre–Gaussian (LG) laser beams in the tripod scheme to create the coupling between spin and orbital angular momentum in a Bose–Einstein condensate (BEC) confined by a harmonic trap. We derive and solve the Gross–Pitaevskii equation numerically to obtain the density distribution of the BEC. Orbital angular momentum from the LG beam is transferred to the BEC, inducing the formation of a giant vortex at the BEC’s centre. The macroscopic flow of spinor BEC around the vortex leads to a persistent spin current in the BEC.

This study investigates the application of an eNose (electrochemical sensory array) device as a rapid and cost-effective screening tool to detect increasingly prevalent counterfeit electronic cigarettes, and those to which potentially hazardous excipients such as vitamin E acetate (VEA) have been added, without the need to generate and test the aerosol such products are intended to emit. A portable, in-field screening tool would also allow government officials to swiftly identify adulterated electronic cigarette e-liquids containing illicit flavorings such as menthol. Our approach involved developing canonical discriminant analysis (CDA) models to differentiate formulation components, including e-liquid bases and nicotine, which the eNose accurately identified. Additionally, models were created using e-liquid bases adulterated with menthol and VEA. The eNose and CDA model correctly identified menthol-containing e-liquids in all instances but were only able to identify VEA in 66.6% of cases. To demonstrate the applicability of this model to a commercial product, a Virginia Tobacco JUUL product was adulterated with menthol and VEA. A CDA model was constructed and, when tested against the prediction set, it was able to identify samples adulterated with menthol 91.6% of the time and those containing VEA in 75% of attempts. To test the ability of this approach to distinguish commercial e-liquid brands, a model using six commercial products was generated and tested against randomized samples on the same day as model creation. The CDA model had a cross-validation of 91.7%. When randomized samples were presented to the model on different days, cross-validation fell to 41.7%, suggesting that interday variability was problematic. However, a subsequently developed support vector machine (SVM) identification algorithm was deployed, increasing the cross-validation to 84.7%. A prediction set was challenged against this model, yielding an accuracy of 94.4%. Altered Elf Bar and Hyde IQ formulations were used to simulate counterfeit products, and in all cases, the brand identification model did not classify these samples as their reference product. This study demonstrates the eNose's capability to distinguish between various odors emitted from e-liquids, highlighting its potential to identify counterfeit and adulterated products in the field without the need to generate and test the aerosol emitted from an electronic cigarette.

Objective: Electronic cigarette (e-cigarette) use among adults in the United States continues to rise. Particularly concerning is the impact of e-cigarette aerosol inhalation on the oral mucosa. Aerosols are derived from a heated e-liquid base of propylene glycol/glycerin (PG/G) often mixed with nicotine and chemical flavors. Of note, harmful and potentially harmful constituents (HPHCs), including metals and volatile organic compounds, have been detected in e-cigarette aerosols. It remains unknown, however, whether aerosols exclusively derived from e-liquid PG/G are detrimental to oral keratinocytes. The present study analyzed toxicological outcomes in normal oral keratinocytes exposed to model nicotine-free, unflavored PG/G e-liquid aerosols., Materials and Methods: Cell viability/cytotoxicity, genotoxicity, and immunoblotting assays were conducted in NOKSI, a gingiva-derived oral keratinocyte cell line, following exposure to model e-liquid aerosols or non-aerosolized controls. The HPHC acrolein, reported to form DNA adducts in the buccal mucosa from e-cigarette users, was also used in similar assays., Results: PG/G e-liquid aerosol extracts significantly enhanced cytotoxic and DNA damaging responses in NOKSI cells when compared to non-aerosolized e-liquid treatment. Acrolein treatment led to similar results., Conclusions: The aerosolization process of PG/G e-liquid is a critical determinant of marked cytotoxic and genotoxic stimuli in oral keratinocytes., (© 2024 John Wiley & Sons Ltd.)

We report a case of Hb S/β 0 -thalassemia (Hb S/β 0 -thal) in a patient who is a compound heterozygote for the Hb Sickle mutation ( HBB :c.20A > T) and a mutation of the canonical splice acceptor sequence of IVS1 (AG > TG, HBB :c.93-2A > T). This is the fifth mutation involving the AG splice acceptor site of IVS1, all of which prevent normal splicing and cause β 0 -thal.

Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese G γ( A γδβ) 0 -thal deletion and a novel frameshift mutation within exon 3 ( HBB :c.336dup), and heterozygous for the Southeast Asian α-thal deletion (-- SEA /αα). This case illustrates the importance of follow-up molecular testing of positive newborn screening results to confirm the diagnosis and define risks for future pregnancies.

We report two hemoglobinopathy cases involving a novel β-thalassemia (β-thal) nonsense mutation, HBB: c.199A > T. One patient had Hb S/β-thal, and a second unrelated patient had Hb D-Punjab/β-thal. The HBB: c.199A > T mutation introduces a premature termination codon at amino acid codon 66 (AAA→TAA) in exon 2, resulting in typical high Hb A 2 β 0 -thal.

We compared characteristics of HIV diagnosis and recent HIV infection (ie, likely acquired within the last year) in Cambodia. We included individuals ≥ 15 years old accessing HIV testing. From August 2020 to August 2022, 53 031 people were tested for HIV, 6868 were newly diagnosed, and 192 were recently infected. We found differences in geographical burden and risk behaviors with diagnosis and recency (eg, men who have sex with men, transgender women, and entertainment workers had a nearly 2-fold increased odds of testing positive for recent infection compared to being diagnosed with HIV). Recent infection surveillance may provide unique insights into ongoing HIV acquisition to inform programs., Competing Interests: Potential conflicts of interest. All authors: No reported conflicts. All authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed., (Published by Oxford University Press on behalf of the Infectious Diseases Society of America 2023.)

Molecular variants including single nucleotide variants (SNVs), copy number variants (CNVs) and fusions can be detected in the clinical setting using deep targeted sequencing. These assays support low limits of detection using little genomic input material. They are gaining in popularity in clinical laboratories, where sample volumes are limited, and low variant allele fractions may be present. However, data on reproducibility between laboratories is limited. Using a ring study, we evaluated the performance of 7 Ontario laboratories using targeted sequencing panels. All laboratories analysed a series of control and clinical samples for SNVs/CNVs and gene fusions. High concordance was observed across laboratories for measured CNVs and SNVs. Over 97% of SNV calls in clinical samples were detected by all laboratories. Whilst only a single CNV was detected in the clinical samples tested, all laboratories were able to reproducibly report both the variant and copy number. Concordance for information derived from RNA was lower than observed for DNA, due largely to decreased quality metrics associated with the RNA components of the assay, suggesting that the RNA portions of comprehensive NGS assays may be more vulnerable to variations in approach and workflow. Overall the results of this study support the use of the OFA for targeted sequencing for testing of clinical samples and suggest specific internal quality metrics that can be reliable indicators of assay failure. While we believe this evidence can be interpreted to support deep targeted sequencing in general, additional studies should be performed to confirm this., Competing Interests: I have read the journal’s policy and the authors of this manuscript have the following competing interests: The following authors are employed by Thermo Fisher, who provided in-kind funding (ML, SS, JS) as well as assistance with data analysis (VM). This does not alter our adherence to PLOS ONE policies on sharing data and materials.

We report the case of a 61-year-old Canadian male of Maltese descent investigated for unexplained polycythemia. Decreased p50 suggested the presence of a high oxygen affinity hemoglobin (Hb) variant. Molecular genetic testing demonstrated that he carries a novel missense mutation ( HBB : c.258T>G), resulting in a Phe→Leu substitution at position 85 of the β chain. The novel Hb variant has been designated Hb Kennisis in recognition of where the proband resides. Two other missense mutations have been reported at this position [Hb Bryn Mawr or Hb Buenos Aires, β85(F1)Phe→Ser ( HBB : c.257T>C); Hb Grantham, β85(F1)Phe→Cys; ( HBB : c.257T>G)], both of which have increased oxygen affinity.

Hereditary pancreatic cancer has been attributed to variants of several cancer predisposition genes including ATM. While heterozygous pathogenic variants in the ATM gene are implicated as a cause of familial breast and pancreatic cancers to our knowledge ATM whole gene deletions have not been previously reported. We describe a contiguous gene deletion of the ATM locus in a multi-generation family of Italian descent with a strong family history of pancreatic cancer. A deletion of one copy of the entire ATM gene was identified by routine panel testing and further characterized by chromosomal microarray analysis. An 11q22.3 microdeletion of approximately 960 kb was identified that is predicted to result in loss of 10 genes including ATM. The deletion was identified in two additional family members including a presymptomatic daughter and an affected sibling. A normal disomic complement of the 11q22.3 region was detected in a third family member with a history of prostate and pancreatic cancer. Additional family members were not available for testing. Given available evidence that ATM haploinsufficiency can increase cancer risk, we predict that the observed copy number loss has likely contributed to hereditary cancer in this family. However, absence of the familial microdeletion in at least one affected family member suggests that ATM deletions are unlikely the sole contributing factor influencing tumor development in affected individuals. This case highlights 11q22.3 microdeletions of the ATM gene region as a possible risk factor for hereditary cancer, including pancreatic cancer. The same case provides a further cautionary tale for over interpretation of cancer risk associated tumor suppressor microdeletions and suggests that the variant may not be sufficient for tumor development or may modify the cancer risks associated with other, yet unidentified hereditary cancer genes., (Copyright © 2019. Published by Elsevier Inc.)

Recently rediscovered layered black phosphorus (BP) provides rich opportunities for investigations of device physics and applications. The band gap of BP is widely tunable by its layer number and a vertical electric field, covering a wide electromagnetic spectral range from visible to mid-infrared. Despite much progress in BP optoelectronics, the fundamental photoluminescence (PL) properties of thin-film BP in mid-infrared have rarely been investigated. Here, we report bright PL emission from thin-film BP (with thickness of 4.5 to 46 nm) from 80 to 300 K. The PL measurements indicate a band gap of 0.308 ± 0.003 eV in 46 nm thick BP at 80 K, and it increases monotonically to 0.334 ± 0.003 eV at 300 K. Such an anomalous blueshift agrees with the previous theoretical and photoconductivity spectroscopy results. However, the observed blueshift of 26 meV from 80 to 300 K is about 60% of the previously reported value. Most importantly, we show that the PL emission intensity from thin-film BP is only a few times weaker than that of an indium arsenide (InAs) multiple quantum well (MQW) structure grown by molecular beam epitaxy. Finally, we report the thickness-dependent PL spectra in thin-film BP in mid-infrared regime. Our work reveals the mid-infrared light emission properties of thin-film BP, suggesting its promising future in tunable mid-infrared light emitting and lasing applications.

Objective: To determine the factors contributing to hospital-based maternal deaths in Indonesia, given most women deliver with skilled birth attendants and in health facilities., Methods: A retrospective review of case records examined quality of care issues related to maternal mortality in hospital settings. The review abstracted information from blinded medical records of 90 women who died in 11 hospitals from January to June 2014. Specialists from the Indonesian Society of Obstetrics and Gynecology reviewed abstracted records to determine causes of death and identify contextual factors for these deaths., Results: Seventy-five of the 90 maternal deaths (83%) reviewed were due to direct obstetric causes. Severe pre-eclampsia and eclampsia combined were the leading direct cause of death (42%). Human resource/health worker factors were more frequently identified than supply, facility, or infrastructure factors. Ninety percent of maternal deaths were classified as preventable., Conclusion: The review exercise yielded useful information on factors contributing to preventable maternal mortality in hospitals in Indonesia. Results helped focus quality improvement efforts and increased awareness of the value of routine, in-depth facility-based maternal death reviews., (© 2019 The Authors. International Journal of Gynecology & Obstetrics published by John Wiley & Sons Ltd on behalf of International Federation of Gynecology and Obstetrics.)

This article assesses the impact of the Assad regime's aerial bombardment campaign on a frequently neglected component of Syria's ongoing civil war: rebel governance. While analysis of the military and humanitarian ramifications of such attacks has been extensive, these perspectives fail to consider how the Assad regime's counter insurgency efforts subvert governance practices by Syria's diverse rebel groups. Drawing on performative approaches to the 'state', we argue that opposition groups' daily enactments of 'stateness' via two key welfare services - bread and healthcare provision - constitute a historically inflected and locally grounded critique of the incumbent. When executed successfully, such enactments can stabilize relations between rulers and ruled while offering a vision of an alternative polity. They can also attract the attention of rivals. The Assad regime's aerial bombing campaign of rebel-held areas is thus neither a haphazard military strategy nor simply the product of long-standing sectarian hatreds, but a deliberate tactic through which it seeks to destroy a key threat to its authority.

Background: Hereditary hemochromatosis (HH) is characterized by excessive iron absorption in the intestine, which can lead to failure of vital organs such as the heart, liver, and pancreas. Among northern Europeans, HH is most often associated with the C282Y and H63D mutations of the HFE gene. We developed a test that allows screening for both mutations in a single reaction., Methods: A multiplex allele-specific PCR was developed for simultaneous genotyping of the H63D and C282Y HFE mutations. PCR fragments were designed such that the resulting PCR product can be analyzed in a single polyacrylamide gel lane., Results: Test results from our multiplex assay were concordant with genotypes of 55 Canadian patients with suspected hemochromatosis, which had previously been established by allele-specific PCRs that targeted H63D and C282Y in separate reactions., Conclusions: Molecular diagnostic detection of H63D and C282Y mutations can be achieved by a variety of methods, but these are not necessarily time-efficient or economical. Multiplex allele-specific PCR is an excellent tool for molecular diagnostic screening for H63D and C282Y mutations in patients with suspected hemochromatosis. This method is inexpensive, accurate, and highly efficient in terms of labor, throughput, and turnaround time., (© 2017 American Association for Clinical Chemistry.)

We report two novel β-thalassemia (β-thal) deletions involving the 5' region of the β-globin gene (HBB). The first deletion spans 538 bp and removes the β-globin promoter, 5' untranslated region (5'UTR) and most of exon 1. This deletion was identified in a 3-year-old Vietnamese boy with non transfusion dependent Hb E (HBB: c.79G>A)/β 0 -thal. The second deletion spans 1517 bp and removes the β-globin gene promoter, 5'UTR, and exons 1 and 2. This deletion was identified in two unrelated adults of European descent who had β-thal trait with unusually high Hb A 2 levels. Deletions such as these are generally associated with higher levels of Hb A 2 and Hb F than typical β-thal alleles, which may ameliorate the severity of the disease.

We report an α 0 -thalassemia (α 0 -thal) trait in Newfoundlanders caused by a novel 90.7 kb deletion. The deletion, designated the Newfoundland deletion (- - NFLD ), removes both the HBA2 and HBA1 genes, while leaving the HBZ gene intact. The 5' deletion endpoint is within the HBAP1 pseudogene, approximately 3.7 kb upstream of the HBA2 gene. The 3' deletion endpoint is approximately 82.5 kb downstream of the HBA1 gene, within the second intervening sequence (IVS-II) of the FAM234A gene. This is the second α 0 -thal deletion reported in Newfoundland families of northern European descent.

Recent studies of civil war have problematized frameworks that rely on a strict binary between state-sanctioned order and anarchy. This paper extends these insights and combines them with theories of performativity to examine welfare practices during the Syrian conflict (2011-2015). Specifically, we argue that conceptualizing the state as a construct-as an effect of power-can expand the study of civil war beyond its quantifiable aspects and embrace the performative dimensions of political life. By means of everyday, iterative acts such as welfare provision, competing groups summon the state, and the political order it seeks to enshrine, into existence: they make it both tangible and thinkable. During civil war, the ability to perform these prosaic acts becomes a matter of pressing military and political concern. Through close scrutiny of various cases, we dissect the impact of subsidized bread provision by the Assad regime, the Free Syrian Army, and armed Islamist groups as they struggle to perform the state. our aim is to bring attention to under-studied governance practices so as to analyze the otherwise opaque relations between welfare provision, military success, and civilian agency during Syria's civil war., (© The Author (2017). Published by Oxford University Press on behalf of the International Studies Association.)

We report two Italian-Canadian families with α + -thalassemia (α + -thal) trait caused by a novel mutation of the translation initiation codon of the α1-globin gene (ATG>AAG or HBA1:c.2T>A). This is the tenth reported α-thal mutation involving the translation initiation codon or the conserved Kozak consensus sequences of the HBA2 or HBA1 genes.

Advances in next-generation sequencing (NGS) have facilitated parallel analysis of multiple genes enabling the implementation of cost-effective, rapid, and high-throughput methods for the molecular diagnosis of multiple genetic conditions, including the identification of BRCA1 and BRCA2 mutations in high-risk patients for hereditary breast and ovarian cancer. We clinically validated a NGS pipeline designed to replace Sanger sequencing and multiplex ligation-dependent probe amplification analysis and to facilitate detection of sequence and copy number alterations in a single test focusing on a BRCA1/BRCA2 gene analysis panel. Our custom capture library covers 46 exons, including BRCA1 exons 2, 3, and 5 to 24 and BRCA2 exons 2 to 27, with 20 nucleotides of intronic regions both 5' and 3' of each exon. We analyzed 402 retrospective patients, with previous Sanger sequencing and multiplex ligation-dependent probe amplification results, and 240 clinical prospective patients. One-hundred eighty-three unique variants, including sequence and copy number variants, were detected in the retrospective (n = 95) and prospective (n = 88) cohorts. This standardized NGS pipeline demonstrated 100% sensitivity and 100% specificity, uniformity, and high-depth nucleotide coverage per sample (approximately 7000 reads per nucleotide). Subsequently, the NGS pipeline was applied to the analysis of larger gene panels, which have shown similar uniformity, sample-to-sample reproducibility in coverage distribution, and sensitivity and specificity for detection of sequence and copy number variants., (Copyright © 2016 American Society for Investigative Pathology and the Association for Molecular Pathology. Published by Elsevier Inc. All rights reserved.)

We report a case of δβ-thalassemia (δβ-thal) trait in an adult male originally from Sudan. Multiplex ligation-dependent probe amplification (MLPA) was used to localize the approximate boundaries of the deletion, followed by polymerase chain reaction (PCR) amplification and sequence analysis of the junction fragment to determine the precise deletion endpoints. The deletion spans 9594 bp, with the 5' deletion endpoint located 1560 bp upstream of the δ-globin gene and the 3' endpoint within the second intervening sequence (IVS-II) of the β-globin gene.

We report a case of α(+)-thalassemia (α(+)-thal) trait in a Chinese-Canadian family caused by a novel frameshift mutation of the α2-globin gene, specifically the duplication of a single nucleotide at amino acid codon 56 [HBA2: c.168dup]. The mutation results in substitution of a termination codon (TAA) for lysine (AAG) at amino acid position 56.