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One of the most promising energy generation techniques for sustainable development is the production of biogas from waste. This study exploited corn stover (CS), abundant waste material in corn plantations, as feedstock with pig manure (PM) as inoculum in biogas production. The CS was pretreated via acid hydrolysis using sulfuric acid. In the batch experiment of acid-hydrolyzed CS, the hydraulic retention time (HRT) and the ratio of corn stover and pig manure (CS/PM ratio) were used as variables in the design of the experiment using the central composite design of the response surface methodology. The effects of these variables on biogas yield were investigated through analysis of variance and 3D surface plots. The best conditions of HRT and CS/PM ratio that would result in optimal biogas yield were also determined via numerical optimization using the built-in feature of the Design Expert software used in data analysis. Additionally, the biogas compositions were determined via gas chromatography analysis. Results showed that the biogas production was significantly affected by CS/PM ratio, with yield peaking at 2:1 to 3:1 (w/w) CS/PM ratio. On the other hand, HRT did not significantly affect biogas production, with an insignificant change in yield even at a variable time. Numerical optimization revealed that the best conditions, such as 10 days of HRT and a 2:1 (w/w) CS/PM ratio, yielded 10.4 L of biogas out of 1000 g feeding concentration (667 g CS and 333 g PM). Based on the gas compositional analysis, the 10.4 L biogas composed of the following: methane of 4.49 L (43.13%), carbon dioxide of 3.88 L (37.29%), nitrogen of 0.19 L (1.85%), and other gases of 1.84 L (17.73%). With published and known purification techniques of biogas using a cleaning device, the desired methane gas can be obtained for various applications.

Identifying the primary factors of teaching quality remains a pivotal agenda for informed decision making, strategic planning, and resource allocation. This study builds upon ten key factors derived from previous research and recognizes the inherent complexity within their relationships. Emphasizing the necessity for a structured model, this work employs an interpretive structural modelling (ISM) approach and Matrice d'impacts croisés multiplication appliquée á un classment (MICMAC) analysis for constructing a hierarchical model that delineates the interrelationships among the factors influencing teaching quality. The findings indicate the substantial impact of intrinsic factors, particularly teachers' individual and psychological characteristics, on other factors. Additionally, our analysis highlights the critical role of student composition in enhancing overall teaching quality. These insights significantly contribute to the literature by offering valuable guidance to decision makers for maintaining teaching quality within higher education institutions.

With the need to integrate green solutions in the construction industry, the design of curtain wall systems has become more relevant due to their tendency to reduce energy costs and carbon emissions in high-rise buildings. However, with the limited attention given to these systems' technical design practices, developing a more comprehensive framework for evaluating them is a current gap in the literature. To address this gap, this paper evaluates the technical design practices of a fully framed aluminium curtain wall in the Philippines using a purposive survey. Furthermore, the paper seeks to infer whether an association between the identified profile and design practices exists. This work contributes significantly to the current literature. It is the first to evaluate the technical design practices of curtain wall systems in the Philippines to the best of our knowledge. The findings in this study would be beneficial for stakeholders as they can be used to develop benchmarks for evaluating CWS in the country.

Background:HIV-associated nephropathy (HIVAN) is a renal parenchymal disease that occurs exclusively in people living with HIV. It is a serious kidney condition that may possibly lead to end-stage kidney disease, particularly in the HIV-1 seropositive patients. Summary:The African-American population has increased susceptibility to this comorbidity due to a strong association found in the APOL1gene, specifically two missense mutations in the G1 allele and a frameshift deletion in the G2 allele, although a “second-hit” event is postulated to have a role in the development of HIVAN. HIVAN presents with proteinuria, particularly in the nephrotic range, as with other kidney diseases. The diagnosis requires biopsy and typically presents with collapsing subtype focal segmental glomerulosclerosis and microcyst formation in the tubulointerstitial region. Gaps still exist in the definitive treatment of HIVAN – concurrent use of antiretroviral therapy and adjunctive management with like renal-angiotensin-aldosterone system inhibitors, steroids, or renal replacement therapy showed benefits. Key Message:This study reviews the current understanding of HIVAN including its epidemiology, mechanism of disease, related genetic factors, clinical profile, and pathophysiologic effects of management options for patients.

A variety of surgical techniques for masculinizing chest wall reconstruction has been described. One well-described approach is the double incision subcutaneous mastectomy with free nipple grafts. There is little documentation available that clearly describes the healing process of free nipple grafts for patients and their caregivers. The nipple-areolar complex is harvested as a full-thickness skin graft. It is resized and repositioned to conform to a more masculine aesthetic. A bolster of nonadherent dressing is tied over the graft and left in position for 7 days as adherence, imbibition, and inosculation occur. The superficial layer of epidermis of the graft initially exfoliates as it is replaced by upwardly migrating cells of follicular epithelium. This is observed as a sloughing which can be disturbing to the patient although it is an expected progression of the healing process. Viable pink dermis will be seen underneath. Pigmentation of the nipple graft can take 3-9 months. Free nipple grafts are useful in cosmetic and reconstructive surgery of the breast. Additional documentation of the healing process provided here can help reassure the patient and their primary care providers.

Purpose: Katipuneros RPG: Bisperas ng Himagsikan (Katipuneros RPG: The Eve of the Revolution) is an immersive and gamified theater that engages its “audiences” in the initiation rites of a secret revolutionary movement in the Philippines in 1896. This descriptive qualitative research evaluates such experiential approach to learning history by investigating the experiences and insights of a group of students from the University of the Philippines Los Baños (UPLB), who participated in Katipuneros RPG. Design/methodology/approach: Textual data obtained from the participants' reflection papers and focus group discussion transcripts were analyzed using open and axial coding. Findings: Three key themes summarized the participants' learning experiences as they went through the play, as follows: (1) Katipuneros RPG as an immersive, interactive and intrinsically motivating medium for learning history; (2) the knowledge, values and skills that served as facilitating factors for their learning and (3) the insights the participants gained about history and life in general. Practical implications: The research argues that in Katipuneros RPG, learners take on a more active role in studying history as the “teacher” vanishes in lieu of a learning system the allows students to think critically, reflect and collaborate. The approach integrates elements of development theater, immersive play and gamified learning, as well as the principles of constructivist, play-based and multi-sensorial learning. Social implications: As an innovative learning tool, it is a viable medium to teach history in the current socio-political context of the Philippines. Originality/value: The study hopes to contribute to literature on pedagogical approaches for teaching and learning history through immersive environments.

Atovaquone, a US Food and Drug Administration–approved antiparasitic drug previously shown to reduce interleukin-6/STAT3 signaling in myeloma cells, is well tolerated, and plasma concentrations of 40 to 80 µM have been achieved with pediatric and adult dosing. We conducted preclinical testing of atovaquone with acute myeloid leukemia (AML) cell lines and pediatric patient samples. Atovaquone induced apoptosis with an EC50 <30 µM for most AML lines and primary pediatric AML specimens. In NSG mice xenografted with luciferase-expressing THP-1 cells and in those receiving a patient-derived xenograft, atovaquone-treated mice demonstrated decreased disease burden and prolonged survival. To gain a better understanding of the mechanism of atovaquone, we performed an integrated analysis of gene expression changes occurring in cancer cell lines after atovaquone exposure. Atovaquone promoted phosphorylation of eIF2α, a key component of the integrated stress response and master regulator of protein translation. Increased levels of phosphorylated eIF2α led to greater abundance of the transcription factor ATF4 and its target genes, including proapoptotic CHOP and CHAC1. Furthermore, atovaquone upregulated REDD1, an ATF4 target gene and negative regulator of the mechanistic target of rapamycin (mTOR), and caused REDD1-mediated inhibition of mTOR activity with similar efficacy as rapamycin. Additionally, atovaquone suppressed the oxygen consumption rate of AML cells, which has specific implications for chemotherapy-resistant AML blasts that rely on oxidative phosphorylation for survival. Our results provide insight into the complex biological effects of atovaquone, highlighting its potential as an anticancer therapy with novel and diverse mechanisms of action, and support further clinical evaluation of atovaquone for pediatric and adult AML.

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s disease Z. Hu, P. Wang, Y. Zhu, J. Zhao, M. Xiong, David A Bennett O11 A microRNA signature identifies subtypes of triple-negative breast cancer and reveals MIR-342-3P as regulator of a lactate metabolic pathway A. Hidalgo-Miranda, S. Romero-Cordoba, S. Rodriguez-Cuevas, R. Rebollar-Vega, E. Tagliabue, M. Iorio, E. D’Ippolito, S. Baroni O12 Transcriptome analysis identifies genes, enhancer RNAs and repetitive elements that are recurrently deregulated across multiple cancer types B. Kaczkowski, Y. Tanaka, H. Kawaji, A. Sandelin, R. Andersson, M. Itoh, T. Lassmann, the FANTOM5 consortium, Y. Hayashizaki, P. Carninci, A. R. R. Forrest O13 Elevated mutation and widespread loss of constraint at regulatory and architectural binding sites across 11 tumour types C. A. Semple O14 Exome sequencing provides evidence of pathogenicity for genes implicated in colorectal cancer E. A. Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. Dorschner, D. Nickerson, J. Smith, K. Patterson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. Jarvik, NHLBI GO Exome Sequencing Project O15 The tandem duplicator phenotype as a distinct genomic configuration in cancer F. Menghi, K. Inaki, X. Woo, P. Kumar, K. Grzeda, A. Malhotra, H. Kim, D. Ucar, P. Shreckengast, K. Karuturi, J. Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. Ananda, G. Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H. Nikbakht, M. Montagne, M. Zeinieh, A. Harutyunyan, M. Mcconechy, N. Jabado, P. Lavigne, J. Majewski O18 Predictive biomarkers to metastatic pancreatic cancer treatment J. B. Goldstein, M. Overman, G. Varadhachary, R. Shroff, R. Wolff, M. Javle, A. Futreal, D. Fogelman O19 DDIT4 gene expression as a prognostic marker in several malignant tumors L. Bravo, W. Fajardo, H. Gomez, C. Castaneda, C. Rolfo, J. A. Pinto O20 Spatial organization of the genome and genomic alterations in human cancers K. C. Akdemir, L. Chin, A. Futreal, ICGC PCAWG Structural Alterations Group O21 Landscape of targeted therapies in solid tumors S. Patterson, C. Statz, S. Mockus O22 Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma S. N. Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, I. Aifantis, O. Michielin, F. de Sauvage, S. Antonarakis O23 Identification of differential biomarkers of hepatocellular carcinoma and cholangiocarcinoma via transcriptome microarray meta-analysis S. Likhitrattanapisal O24 Clinical validity and actionability of multigene tests for hereditary cancers in a large multi-center study S. Lincoln, A. Kurian, A. Desmond, S. Yang, Y. Kobayashi, J. Ford, L. Ellisen O25 Correlation with tumor ploidy status is essential for correct determination of genome-wide copy number changes by SNP array T. L. Peters, K. R. Alvarez, E. F. Hollingsworth, D. H. Lopez-Terrada O26 Nanochannel based next-generation mapping for interrogation of clinically relevant structural variation A. Hastie, Z. Dzakula, A. W. Pang, E. T. Lam, T. Anantharaman, M. Saghbini, H. Cao, BioNano Genomics O27 Mutation spectrum in a pulmonary arterial hypertension (PAH) cohort and identification of associated truncating mutations in TBX4 C. Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. K. Chung O28 NORTH CAROLINA macular dystrophy (MCDR1): mutations found affecting PRDM13 K. Small, A. DeLuca, F. Cremers, R. A. Lewis, V. Puech, B. Bakall, R. Silva-Garcia, K. Rohrschneider, M. Leys, F. S. Shaya, E. Stone O29 PhenoDB and genematcher, solving unsolved whole exome sequencing data N. L. Sobreira, F. Schiettecatte, H. Ling, E. Pugh, D. Witmer, K. Hetrick, P. Zhang, K. Doheny, D. Valle, A. Hamosh O30 Baylor-Johns Hopkins Center for Mendelian genomics: a four year review S. N. Jhangiani, Z. Coban Akdemir, M. N. Bainbridge, W. Charng, W. Wiszniewski, T. Gambin, E. Karaca, Y. Bayram, M. K. Eldomery, J. Posey, H. Doddapaneni, J. Hu, V. R. Sutton, D. M. Muzny, E. A. Boerwinkle, D. Valle, J. R. Lupski, R. A. Gibbs O31 Using read overlap assembly to accurately identify structural genetic differences in an ashkenazi jewish trio S. Shekar, W. Salerno, A. English, A. Mangubat, J. Bruestle O32 Legal interoperability: a sine qua non for international data sharing A. Thorogood, B. M. Knoppers, Global Alliance for Genomics and Health - Regulatory and Ethics Working Group O33 High throughput screening platform of competent sineups: that can enhance translation activities of therapeutic target H. Takahashi, K. R. Nitta, A. Kozhuharova, A. M. Suzuki, H. Sharma, D. Cotella, C. Santoro, S. Zucchelli, S. Gustincich, P. Carninci O34 The undiagnosed diseases network international (UDNI): clinical and laboratory research to meet patient needs J. J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio O36 Performance of computational algorithms in pathogenicity predictions for activating variants in oncogenes versus loss of function mutations in tumor suppressor genes R. Ghosh, S. Plon O37 Identification and electronic health record incorporation of clinically actionable pharmacogenomic variants using prospective targeted sequencing S. Scherer, X. Qin, R. Sanghvi, K. Walker, T. Chiang, D. Muzny, L. Wang, J. Black, E. Boerwinkle, R. Weinshilboum, R. Gibbs O38 Melanoma reprogramming state correlates with response to CTLA-4 blockade in metastatic melanoma T. Karpinets, T. Calderone, K. Wani, X. Yu, C. Creasy, C. Haymaker, M. Forget, V. Nanda, J. Roszik, J. Wargo, L. Haydu, X. Song, A. Lazar, J. Gershenwald, M. Davies, C. Bernatchez, J. Zhang, A. Futreal, S. Woodman O39 Data-driven refinement of complex disease classification from integration of heterogeneous functional genomics data in GeneWeaver E. J. Chesler, T. Reynolds, J. A. Bubier, C. Phillips, M. A. Langston, E. J. Baker O40 A general statistic framework for genome-based disease risk prediction M. Xiong, L. Ma, N. Lin, C. Amos O41 Integrative large-scale causal network analysis of imaging and genomic data and its application in schizophrenia studies N. Lin, P. Wang, Y. Zhu, J. Zhao, V. Calhoun, M. Xiong O42 Big data and NGS data analysis: the cloud to the rescue O. Dobretsberger, M. Egger, F. Leimgruber O43 Cpipe: a convergent clinical exome pipeline specialised for targeted sequencing S. Sadedin, A. Oshlack, Melbourne Genomics Health Alliance O44 A Bayesian classification of biomedical images using feature extraction from deep neural networks implemented on lung cancer data V. A. A. Antonio, N. Ono, Clark Kendrick C. Go O45 MAV-SEQ: an interactive platform for the Management, Analysis, and Visualization of sequence data Z. Ahmed, M. Bolisetty, S. Zeeshan, E. Anguiano, D. Ucar O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans C. Zeng, J. Shao O48 Nanochannel based next-generation mapping for structural variation detection and comparison in trios and populations H. Cao, A. Hastie, A. W. Pang, E. T. Lam, T. Liang, K. Pham, M. Saghbini, Z. Dzakula O49 Archaic introgression in indigenous populations of Malaysia revealed by whole genome sequencing Y. Chee-Wei, L. Dongsheng, W. Lai-Ping, D. Lian, R. O. Twee Hee, Y. Yunus, F. Aghakhanian, S. S. Mokhtar, C. V. Lok-Yung, J. Bhak, M. Phipps, X. Shuhua, T. Yik-Ying, V. Kumar, H. Boon-Peng O50 Breast and ovarian cancer prevention: is it time for population-based mutation screening of high risk genes? I. Campbell, M.-A. Young, P. James, Lifepool O53 Comprehensive coverage from low DNA input using novel NGS library preparation methods for WGS and WGBS C. Schumacher, S. Sandhu, T. Harkins, V. Makarov O54 Methods for large scale construction of robust PCR-free libraries for sequencing on Illumina HiSeqX platform H. DoddapaneniR. Glenn, Z. Momin, B. Dilrukshi, H. Chao, Q. Meng, B. Gudenkauf, R. Kshitij, J. Jayaseelan, C. Nessner, S. Lee, K. Blankenberg, L. Lewis, J. Hu, Y. Han, H. Dinh, S. Jireh, K. Walker, E. Boerwinkle, D. Muzny, R. Gibbs O55 Rapid capture methods for clinical sequencing J. Hu, K. Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. Eng, D. M. Muzny, R. A. Gibbs O56 A diploid personal human genome model for better genomes from diverse sequence data K. C. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, X. Qin, O. A. Hampton, P. Larsen, C. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, A. Yoder, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs O57 Development of PacBio long range capture for detection of pathogenic structural variants Q. Meng, M. Bainbridge, M. Wang, H. Doddapaneni, Y. Han, D. Muzny, R. Gibbs O58 Rhesus macaques exhibit more non-synonymous variation but greater impact of purifying selection than humans R. A. Harris, M. Raveenedran, C. Xue, M. Dahdouli, L. Cox, G. Fan, B. Ferguson, J. Hovarth, Z. Johnson, S. Kanthaswamy, M. Kubisch, M. Platt, D. Smith, E. Vallender, R. Wiseman, X. Liu, J. Below, D. Muzny, R. Gibbs, F. Yu, J. Rogers O59 Assessing RNA structure disruption induced by single-nucleotide variation J. Lin, Y. Zhang, Z. Ouyang P1 A meta-analysis of genome-wide association studies of mitochondrial dna copy number A. Moore, Z. Wang, J. Hofmann, M. Purdue, R. Stolzenberg-Solomon, S. Weinstein, D. Albanes, C.-S. Liu, W.-L. Cheng, T.-T. Lin, Q. Lan, N. Rothman, S. Berndt P2 Missense polymorphic genetic combinations underlying down syndrome susceptibility E. S. Chen P4 The evaluation of alteration of ELAM-1 expression in the endometriosis patients H. Bahrami, A. Khoshzaban, S. Heidari Keshal P5 Obesity and the incidence of apolipoprotein E polymorphisms in an assorted population from Saudi Arabia population K. K. R. Alharbi P6 Genome-associated personalized antithrombotical therapy for patients with high risk of thrombosis and bleeding M. Zhalbinova, A. Akilzhanova, S. Rakhimova, M. Bekbosynova, S. Myrzakhmetova P7 Frequency of Xmn1 polymorphism among sickle cell carrier cases in UAE population M. Matar P8 Differentiating inflammatory bowel diseases by using genomic data: dimension of the problem and network organization N. Mili, R. Molinari, Y. Ma, S. Guerrier P9 Vulnerability of genetic variants to the risk of autism among Saudi children N. Elhawary, M. Tayeb, N. Bogari, N. Qotb P10 Chromatin profiles from ex vivo purified dopaminergic neurons establish a promising model to support studies of neurological function and dysfunction S. A. McClymont, P. W. Hook, L. A. Goff, A. McCallion P11 Utilization of a sensitized chemical mutagenesis screen to identify genetic modifiers of retinal dysplasia in homozygous Nr2e3rd7mice Y. Kong, J. R. Charette, W. L. Hicks, J. K. Naggert, L. Zhao, P. M. Nishina P12 Ion torrent next generation sequencing of recessive polycystic kidney disease in Saudi patients B. M. Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, N. Altayeb, M. A. Ahmed, K. Alansary, Z. Abduljaleel P13 Digital expression profiling of Purkinje neurons and dendrites in different subcellular compartments A. Kratz, P. Beguin, S. Poulain, M. Kaneko, C. Takahiko, A. Matsunaga, S. Kato, A. M. Suzuki, N. Bertin, T. Lassmann, R. Vigot, P. Carninci, C. Plessy, T. Launey P14 The evolution of imperfection and imperfection of evolution: the functional and functionless fractions of the human genome D. Graur P16 Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients J. Friis-Nielsen, J. M. Izarzugaza, S. Brunak P18 Discovery of active gene modules which are densely conserved across multiple cancer types reveal their prognostic power and mutually exclusive mutation patterns B. S. Soibam P19 Whole exome sequencing of dysplastic leukoplakia tissue indicates sequential accumulation of somatic mutations from oral precancer to cancer D. Das, N. Biswas, S. Das, S. Sarkar, A. Maitra, C. Panda, P. Majumder P21 Epigenetic mechanisms of carcinogensis by hereditary breast cancer genes J. J. Gruber, N. Jaeger, M. Snyder P22 RNA direct: a novel RNA enrichment strategy applied to transcripts associated with solid tumors K. Patel, S. Bowman, T. Davis, D. Kraushaar, A. Emerman, S. Russello, N. Henig, C. Hendrickson P23 RNA sequencing identifies gene mutations for neuroblastoma K. Zhang P24 Participation of SFRP1 in the modulation of TMPRSS2-ERG fusion gene in prostate cancer cell lines M. Rodriguez-Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, S. Solorzano-Rosales P25 Targeted Methylation Sequencing of Prostate Cancer N. Jäger, J. Chen, R. Haile, M. Hitchins, J. D. Brooks, M. Snyder P26 Mutant TPMT alleles in children with acute lymphoblastic leukemia from México City and Yucatán, Mexico S. Jiménez-Morales, M. Ramírez, J. Nuñez, V. Bekker, Y. Leal, E. Jiménez, A. Medina, A. Hidalgo, J. Mejía P28 Genetic modifiers of Alström syndrome J. Naggert, G. B. Collin, K. DeMauro, R. Hanusek, P. M. Nishina P31 Association of genomic variants with the occurrence of angiotensin-converting-enzyme inhibitor (ACEI)-induced coughing among Filipinos E. M. Cutiongco De La Paz, R. Sy, J. Nevado, P. Reganit, L. Santos, J. D. Magno, F. E. Punzalan , D. Ona , E. Llanes, R. L. Santos-Cortes , R. Tiongco, J. Aherrera, L. Abrahan, P. Pagauitan-Alan; Philippine Cardiogenomics Study Group P32 The use of “humanized” mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for Charcot-Marie-Tooth disease type 2D K. H. Morelli, J. S. Domire, N. Pyne, S. Harper, R. Burgess P34 Molecular regulation of chondrogenic human induced pluripotent stem cells M. A. Gari, A. Dallol, H. Alsehli, A. Gari, M. Gari, A. Abuzenadah P35 Molecular profiling of hematologic malignancies: implementation of a variant assessment algorithm for next generation sequencing data analysis and clinical reporting M. Thomas, M. Sukhai, S. Garg, M. Misyura, T. Zhang, A. Schuh, T. Stockley, S. Kamel-Reid P36 Accessing genomic evidence for clinical variants at NCBI S. Sherry, C. Xiao, D. Slotta, K. Rodarmer, M. Feolo, M. Kimelman, G. Godynskiy, C. O’Sullivan, E. Yaschenko P37 NGS-SWIFT: a cloud-based variant analysis framework using control-accessed sequencing data from DBGAP/SRA C. Xiao, E. Yaschenko, S. Sherry P38 Computational assessment of drug induced hepatotoxicity through gene expression profiling C. Rangel-Escareño, H. Rueda-Zarate P40 Flowr: robust and efficient pipelines using a simple language-agnostic approach;ultraseq; fast modular pipeline for somatic variation calling using flowr S. Seth, S. Amin, X. Song, X. Mao, H. Sun, R. G. Verhaak, A. Futreal, J. Zhang P41 Applying “Big data” technologies to the rapid analysis of heterogenous large cohort data S. J. Whiite, T. Chiang, A. English, J. Farek, Z. Kahn, W. Salerno, N. Veeraraghavan, E. Boerwinkle, R. Gibbs P42 FANTOM5 web resource for the large-scale genome-wide transcription start site activity profiles of wide-range of mammalian cells T. Kasukawa, M. Lizio, J. Harshbarger, S. Hisashi, J. Severin, A. Imad, S. Sahin, T. C. Freeman, K. Baillie, A. Sandelin, P. Carninci, A. R. R. Forrest, H. Kawaji, The FANTOM Consortium P43 Rapid and scalable typing of structural variants for disease cohorts W. Salerno, A. English, S. N. Shekar, A. Mangubat, J. Bruestle, E. Boerwinkle, R. A. Gibbs P44 Polymorphism of glutathione S-transferases and sulphotransferases genes in an Arab population A. H. Salem, M. Ali, A. Ibrahim, M. Ibrahim P46 Genetic divergence of CYP3A5*3 pharmacogenomic marker for native and admixed Mexican populations J. C. Fernandez-Lopez, V. Bonifaz-Peña, C. Rangel-Escareño, A. Hidalgo-Miranda, A. V. Contreras P47 Whole exome sequence meta-analysis of 13 white blood cell, red blood cell, and platelet traits L. Polfus, CHARGE and NHLBI Exome Sequence Project Working Groups P48 Association of adipoq gene with type 2 diabetes and related phenotypes in african american men and women: The jackson heart study S. Davis, R. Xu, S. Gebeab, P Riestra, A Gaye, R. Khan, J. Wilson, A. Bidulescu P49 Common variants in casr gene are associated with serum calcium levels in koreans S. H. Jung, N. Vinayagamoorthy, S. H. Yim, Y. J. Chung P50 Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with multiple exponential functions Y. Zhou, S. Xu P51 A Bayesian framework for generalized linear mixed models in genome-wide association studies X. Wang, V. Philip, G. Carter P52 Targeted sequencing approach for the identification of the genetic causes of hereditary hearing impairment A. A. Abuzenadah, M. Gari, R. Turki, A. Dallol P53 Identification of enhancer sequences by ATAC-seq open chromatin profiling A. Uyar, A. Kaygun, S. Zaman, E. Marquez, J. George, D. Ucar P54 Direct enrichment for the rapid preparation of targeted NGS libraries C. L. Hendrickson, A. Emerman, D. Kraushaar, S. Bowman, N. Henig, T. Davis, S. Russello, K. Patel P56 Performance of the Agilent D5000 and High Sensitivity D5000 ScreenTape assays for the Agilent 4200 Tapestation System R. Nitsche, L. Prieto-Lafuente P57 ClinVar: a multi-source archive for variant interpretation M. Landrum, J. Lee, W. Rubinstein, D. Maglott P59 Association of functional variants and protein physical interactions of human MUTY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome Z. Abduljaleel, W. Khan, F. A. Al-Allaf, M. Athar , M. M. Taher, N. Shahzad P60 Modification of the microbiom constitution in the gut using chicken IgY antibodies resulted in a reduction of acute graft-versus-host disease after experimental bone marrow transplantation A. Bouazzaoui, E. Huber, A. Dan, F. A. Al-Allaf, W. Herr, G. Sprotte, J. Köstler, A. Hiergeist, A. Gessner, R. Andreesen, E. Holler P61 Compound heterozygous mutation in the LDLRgene in Saudi patients suffering severe hypercholesterolemia F. Al-Allaf, A. Alashwal, Z. Abduljaleel, M. Taher, A. Bouazzaoui, H. Abalkhail, A. Al-Allaf, R. Bamardadh, M. Athar

Side-chain modifications that respond to external stimuli provide a convenient approach to control macromolecular structure and function. Responsive modification of backbone amide structure represents a direct and powerful alternative to impact folding and function. Here, we describe a new photocaging method using histidine-directed backbone modification to selectively modify peptides and proteins at the amide N–H bond. A new vinylogous photocleavage method allows photorelease of the backbone modification and, with it, restoration of function.

Tofacitinib is an oral Janus kinase inhibitor for the treatment of rheumatoid arthritis. The Oral Rheumatoid Arthritis triaL (ORAL) Strategy aimed to assess the comparative efficacy of tofacitinib monotherapy, tofacitinib plus methotrexate, and adalimumab plus methotrexate for the treatment of rheumatoid arthritis in patients with a previous inadequate response to methotrexate.

The March Recipe of the Month (carrot, chickpea, and barley soup) was out of this world. It's such a relief to find a nutritious low-calorie recipe that's also yummy. It […]

Introduction: The epidemic of obesity has provided a new cosmetic challenge in postbariatric body reconstruction. Traditionally, body lift procedures and circumferential liposuction have been used to address the excess skin and adiposity present after weight loss. After applying alveolar abdominoplasty principles to circumferential body lifts, we describe our experience of the first 24 lipo-circumferential body lift procedures performed as single-stage outpatient surgery.Materials and Methods: Between October 2007 and August 2009, 24 patients underwent a total body lift using our lipo-circumferential body lift technique. The operative technique is described. Intraoperative and postoperative complications are compared with published series.Results: All procedures were performed as a single-stage outpatient procedure. The last 20 patients did not receive postoperative drains. Seven patients underwent additional procedures performed in the same setting. No intraoperative or major postoperative complications occurred. Five patients (20.8%) had posterior wound dehiscence (<2 cm). Five patients (20.8%) had anterior wound dehiscence (<2 cm). Two patients (8.3%) had minor wound infection. Two patients (8.3%) had cellulitis. One patient (4.2%) had umbilical necrosis. An overall minor complication rate of 58% was reported. Conclusions: Our technique of lipo-circumferential body lift is a safe and effective procedure to address the body contouring after massive weight loss in a single stage, outpatient procedure.

The vision of organic photovoltaics is that of a low cost solar energy conversion platform that provides lightweight, flexible solar cells that are easily incorporated into existing infrastructure with minimal impact on land usage. Polymer solar cells have been a subject of growing research interest over the past quarter century, and are now developed to the point where they are on the verge of introduction into the market. Towards the goal of continuing to improve the performance of polymer solar cells, a number of avenues are being explored. Here, the focus is on optimization of device performance via the development of a more fundamental understanding of device parameters. The fundamental operating principle of an organic solar cell is based on the cooperative interaction of molecular or polymeric electron donors and acceptors. Here the state-of-the-art in understanding of the physical and electronic interactions between donor and acceptor components is examined, as is important for understanding future avenues of research and the ultimate potential of this technology.

The article discusses an overview of hair restoration surgery (HRS) cosmetic and reconstructive procedures used in treating massive hair loss from illnesses or injuries. It highlights the challenge of reconstructing the scalp in order to achieve a cosmetically superior results. It presents several case studies of scalp deformities being demonstrated with HRS techniques.

Background: Traditionally, liposuction techniques have been used to address excess abdominal fat, and abdominoplasty procedures have been used to address excess abdominal skin and abdominal muscular laxity. The Avelar lipoabdominoplasty is a procedure that combines abdominal liposuction with abdominoplasty and can address all of these issues with a single operative procedure. In this series, we report on our initial operative results using this operative technique.Methods: A total of 67 patients underwent Avelar lipoabdominoplasty during the period from November 2004 to June 2006 and were included in this series. Intraoperative and postoperative complications were recorded. Overall patient satisfaction with the procedure was recorded as well.Results: Patient satisfaction surveys were recorded for all 67 patients who underwent Avelar lipoabdominoplasty in this series. In all, 55 patients (82%) stated that they were very satisfied with the procedure, 9 patients (13%) stated that they were satisfied with the procedure, 2 patients (3%) stated that they were somewhat satisfied with the procedure, and 1 patient (2%) expressed dissatisfaction with the procedure. No intraoperative complications were encountered for patients undergoing the Avelar lipoabdominoplasty in this series. Postoperative complications during this series were recorded and included 4 seromas (6%), 5 minor wound infections (7%), and 2 minor skin necroses (3%).Conclusions: The Avelar lipoabdominoplasty is a safe and effective operative technique that can address excess abdominal fat, abdominal muscular laxity, and excess abdominal skin with a single operative procedure. The technique is associated with a high level of patient satisfaction and is more rapid than traditional abdominoplasty techniques.

Introduction: Nasal obstruction secondary to internal nasal valve (INV) collapse is a well-described condition. Symptoms of INV collapse include chronic nasal congestion, nasal airway obstruction, snoring, and difficulty obtaining restful sleep. The authors report the use of calcium hydroxylapatite (CaHA) injection as a spreader graft to improve nasal airway patency in patients experiencing INV collapse.Materials and Methods: Of 12 patients enrolled in the study, 6 patients completed follow-up and are the subject of this report. They were evaluated and found to have bilateral INV collapse resulting in nasal obstruction. A total of 12 sides were injected with small aliquots of CaHA, also known as Radiesse. Injections were directed into the INV at the junction of the upper lateral cartilage and the dorsal septum until nasal obstruction was relieved and INV angles were visually increased. Biopsy of the CaHA spreader graft was undertaken for histologic evaluation in 1 patient who underwent elective cosmetic rhinoplasty. Each patient completed subjective nasal airway patency questionnaires documenting their degree of perceived nasal obstruction before the CaHA spreader graft and at the 3-month follow-up.Results: All 6 patients experienced immediate subjective relief of their nasal obstruction with the CaHA spreader graft. Immediate posttreatment INV angles were visually widened at rest and during inspiration. At the 3-month follow-up, the improvement in the INV angles remained for all 6 patients. In addition, the subjective nasal airway patency evaluations universally correlated with the observed changes, and high patient satisfaction was preserved. Histologic findings for 1 patient revealed fibrous tissue with few foreign body giant cells.Discussion: Use of CaHA spreader graft injection to relieve nasal obstruction because of INV collapse appears to be a reasonable nonsurgical alternative. Long-term studies are ongoing.

This randomized, double-blind, parallel-design trial compared the efficacy and safety of tamsulosin and alfuzosin in 76 men with symptomatic benign prostatic hyperplasia. Patients were randomized to receive 0.2 mg tamsulosin once daily orally (n= 40) or 10 mg alfuzosin once daily orally (n= 36), and changes in the International Prostate Symptom Score (IPSS), maximal urinary flow rate (Qmax) and the Danish prostatic symptom sexual function score and morbidity rates were compared after 8 weeks of treatment. There was a mean overall decrease in the IPSS, with no significant difference between the treatment groups. There was an overall increase in the Qmax, which again was similar in the two groups. There was no significant change in the sexual function scores in either group. The incidence of adverse events was similar for tamsulosin (25%) and alfuzosin (19.4%) therapy. In conclusion, both treatment regimens similarly improved the IPSS and Qmax, did not alter sexual function and were well tolerated.

Background

Introduction: The introduction of tumescent anesthesia in 1987 was a major milestone in liposuction history. The technique provided local anesthesia for large areas of liposuction as well as virtually eliminating significant blood loss. With the acceptance of tumescence as a standard in liposuction surgery, surgeons have begun infusing ever-increasing amounts of tumescent fluid and aspirating volumes of fat considered impossible to remove only a decade ago. Large-volume tumescent infusion delivered concomitantly large loads of lidocaine, almost an order of magnitude greater than the maximum load recommended in the Physicians' Desk Reference. Complications are inevitable with lidocaine levels this high. Large-volume liposuction can result in lidocaine toxicity with tumescent anesthesia. This study evaluated whether removing lidocaine from the tumescent formula increases the safety and extends the efficacy of large-volume liposuction by eliminating the danger of lidocaine toxicity.Methods and Materials: A retrospective review of 105 patients undergoing large-volume liposuction with a tumescent infusion of greater than 10 L was performed. A high incidence (71%) of nausea and vomiting was noted in 24 patients undergoing large-volume liposuction under tumescent anesthesia with Klein solution. Because of the possibility of toxicity, lidocaine was eliminated from the tumescent formula and anesthesia was provided with epidural block.Results: A total of 105 patients undergoing large-volume liposuction were studied; 24 had tumescent anesthesia and 81 had epidural anesthesia and tumescent infusion of epinephrine 1:1000 000 concentration without lidocaine. The incidence of nausea and vomiting dropped from 71% to 14% when lidocaine was removed.Conclusion: The possibility of toxicity is virtually eliminated when lidocaine is removed from the tumescent formula and when regional or general anesthesia is used. This allows the surgeon to infuse a greater volume of tumescent solution and remove a larger volume of fat with increased safety.

The authors present their experience with a new technique of preserving the axial blood supply of the bioccipitoparietal flap used in extensive scalp lifting (ESL). ESL is a significant contribution in the treatment of advanced male pattern baldness, allowing the excision of large amounts of bald scalp in a single procedure without the use of expanders or extenders. The occipital neurovascular bundle (ONB) is traditionally ligated as a delay procedure 4—6 weeks prior to the ESL. The authors have found that preserving the ONB significantly reduces the risk of ischemic complications in ESL procedures. In fact, no flap necroses were reported in 186 procedures using this technique. Furthermore, ESL with ONB preservation was performed with no ischemic complications in 78 patients (59%) who were traditionally not considered to be candidates for ESL because they had undergone prior hair transplant procedures. It is therefore shown that ONB preservation significantly streamlines ESL by eliminating the need for a delay procedure, decreasing or eliminating ischemic complications, and increasing the flexibility and scope of ESL by allowing patients with prior hair transplantation to be candidates for the procedure.

Accidents are the leading cause of death in children, accounting for more pediatric deaths than all other causes combined. Accidents also account for 21.7 million injuries to children that require medical care annually. Despite recognition of this major public health problem, little emphasis is directed toward the pediatric patient in emergency medical services education. In response to this need, Children's Hospital National Medical Center developed a three-day training program in pediatric emergencies for field emergency medical technicians, intermediate paramedics, and paramedics. The course consists of 18 hours of lectures and skill stations focusing on medical emergencies, care of the injured child, the special needs of the infant, and the emotional response of the child and family in an emergency. Test evaluations before and after the course from the 190 participants demonstrate a significant improvement in their knowledge and skills in treating pediatric emergencies (P< 0.001).

The article focuses on several letters, an opinion poll, and blogs by the readers of the journal. One of the readers named Rachelle Rizzuto appreciated the article "How I Got My Best Body Ever." According to a reader named Jeannie Sherin, the article "The New Wonder Food for Women," included all the required information. The result of the poll on payment of health insurance to smokers has also been included. Seventy-two percent of the respondents favored the statement.

Background. Activation of the cyclic adenosine monophosphate (cAMP)/phosphorylated CREB (P-CREB) system in different brain regions has been implicated in mediating opioid tolerance and dependence, while alteration of this system in the lateral hypothalamus (LH) has been suggested to have a role in food intake and body weight. Methods. Given that opioids regulate food intake, we measured P-CREB in different brain regions in mice exposed to morphine treatments designed to induce different degrees of tolerance and dependence. Results. We found that a single morphine injection or daily morphine injections for 8 days did not influence P-CREB levels, while the escalating dose of morphine regimen raised P-CREB levels only in the ventral tegmental area (VTA). Chronic morphine pellet implantation for 7 days raised P-CREB levels in the LH, VTA, and dorsomedial nucleus of the hypothalamus (DM) but not in the nucleus accumbens and amygdala. Increased P-CREB levels in LH, VTA, and DM following 7-day treatment with morphine pellets and increased P-CREB levels in the VTA following escalating doses of morphine were associated with decreased food intake and body weight. Conclusion. The morphine regulation of P-CREB may explain some of the physiological sequelae of opioid exposure including altered food intake and body weight.

The impact of malnutrition on morbidity and mortality associated with acute respiratory tract infection (ARI) was studied in Filipino children <5 years old. Malnutrition measured by weight-for-age Z-scores of <- 3 SD and <- 2 SD from the National Center for Health Statistics median reference population was associated with the following significant relative risks of morbidity: 1.24 (95070 confidence interval [CI] = 1.14, 1.34) and 1.14 (95% CI = 1.08, 1.19), respectively, for ARI; and 1.9 (95% CI = 1.46, 2.39) and 1.2 (95% CI = 1.03, 1.47), respectively, for acute lower respiratory tract infection (ALRI). These risk ratios remained significant when adjusted for age, crowding, and parental smoking. Malnourished children with severe ALRI also had a mortality risk two to three times higher than that of healthy children. This risk remained significant even when adjusted for significant predictors of mortality, including clinical complications, concurrent measles, severe infections, and female gender; and for clinical factors, including extent of pneumonic infiltrates, dehydration, and hepatic enlargement. These findings underscore the importance of nutritional intervention in the control of morbidity and mortality among patients with ARI.

The incidences of acute respiratory tract infection (ARI) and acute lower respiratory infection (ALRI) were 6.1 and 0.5 per child-year, respectively, in children <5 years old in a depressed urban community in Manila. The peak age-specific incidence occurred in those children 6–23 months old for ARI and 6–11 months old for ALRI. Age <2 years, malnutrition, household crowding, and parental smoking were associated with a statistically significant, though modest, increase in ARI morbidity. The crude mortality rate was 14.3 per 1,000 children 0–4 years old, with a corresponding ARI-specific mortality rate of 8.9 per 1,000. The prevalence of viral infection was 32.8 and that of bacteremic ALRI was 6.7 per 1,000 children with moderate ALRI. Respiratory syncytial virus was the predominant viral pathogen, while Streptococcus pneumoniae, Haemophilus influenzae, and Staphylococcus aureus were the most frequently isolated bacterial pathogens. Transmission of respiratory pathogens in depressed communities, facilitated by inadequate housing, inaccessible health services, and prevalent malnutrition, will continue unless meaningful socioeconomic improvement is realized.

The etiology of acute lower respiratory tract infection (ALRI) was identified in 235 (43.8070) of 537 hospitalized children <5 years of age. Clinical evidence of measles was found in 258 (48.0%) patients~ of whom 59 had a second viral infection. A viral agent was identified in an additional 121 patients, so that a total of 379 (70.60/0) had viral infections. After measles~ respiratory syncytial virus was the most common respiratory virus. Bacteremia was noted in 72 children (l3.4%), occurring as frequently in children with measles (14.8%) as in those without (12.1%); Haemophilus influenzae and Salmonella typhi were predominant in the former, and H. influenzae, Staphylococcus aureus, and Streptococcus pneumoniae were prominent in the latter. The presence of bacterial antigen in urine was not helpful in identifying bacterial infection. Extrapulmonary and intrapleural complications, concomitant measles, complicated ALRI, female gender, and malnutrition were associated with increased mortality among children with ALRI. The importance of measles immunization, vitamin A supplementation for alleviation of defects associated with malnutrition~ and timely antimicrobial therapy is emphasized.