New England Wind Energy Education Project (NEWEEP)

Project objective is to develop and disseminate accurate, objective information on critical wind energy issues impacting market acceptance of hundreds of land-based projects and vast off-shore wind developments proposed in the 6-state New England region, thereby accelerating the pace of wind installation from today's 140 MW towards the region's 20% by 2030 goals of 12,500 MW. Methodology: This objective will be accomplished by accumulating, developing, assembling timely, accurate, objective and detailed information representing the 'state of the knowledge' on critical wind energy issues impacting market acceptance, and widely disseminating such information. The target audience includes state agencies and local governments; utilities and grid operators; wind developers; agricultural and environmental groups and other NGOs; research organizations; host communities and the general public, particularly those in communities with planned or operating wind projects. Information will be disseminated through: (a) a series of topic-specific web conference briefings; (b) a one-day NEWEEP conference, back-to-back with a Utility Wind Interest Group one-day regional conference organized for this project; (c) posting briefing and conference materials on the New England Wind Forum (NEWF) web site and featuring the content on NEWF electronic newsletters distributed to an opt-in list of currently over 5000 individuals; (d) through interaction with and participation in Wind Powering America (WPA) state Wind Working Group meetings and WPA's annual All-States Summit, and (e) through the networks of project collaborators. Sustainable Energy Advantage, LLC (lead) and the National Renewable Energy Laboratory will staff the project, directed by an independent Steering Committee composed of a collaborative regional and national network of organizations. Major Participants - the Steering Committee: In addition to the applicants, the initial collaborators committing to form a Steering Committee consists of the Massachusetts Renewable Energy Trust; Maine Public Utilities Commission; New Hampshire office of Energy & Planning, the Connecticut Clean Energy Fund;, ISO New England; Utility Wind Interest Group; University of Massachusetts Wind Energy Center; Renewable Energy New England (a new partnership between the renewable energy industry and environmental public interest groups), and Lawrence Berkeley National Laboratory (conditionally). The Steering Committee will: (1) identify and prioritize topics of greatest interest or concern where detailed, objective and accurate information will advance the dialogue in the region; (2) identify critical outreach venues, influencers and experts; (3) direct and coordinate project staff; (4) assist project staff in planning briefings and conferences described below; (5) identify topics needing additional research or technical assistance and (6) identify and recruit additional steering committee members. Impacts/Benefits/Outcomes: By cutting through the clutter of competing and conflicting information on critical issues, this project is intended to encourage the market's acceptance of appropriately-sited wind energy generation

Infants with esophageal atresia and right aortic arch: Characteristics and outcomes from the Midwest Pediatric Surgery Consortium

Purpose Right sided aortic arch (RAA) is a rare anatomic finding in infants with esophageal atresia with or without tracheoesophageal fistula (EA/TEF). In the presence of RAA, significant controversy exists regarding optimal side for thoracotomy in repair of the EA/TEF. The purpose of this study was to characterize the incidence, demographics, surgical approach, and outcomes of patients with RAA and EA/TEF. Methods A multi-institutional, IRB approved, retrospective cohort study of infants with EA/TEF treated at 11 children's hospitals in the United States over a 5-year period (2009 to 2014) was performed. All patients had a minimum of one-year follow-up. Results In a cohort of 396 infants with esophageal atresia, 20 (5%) had RAA, with 18 having EA with a distal TEF and 2 with pure EA. Compared to infants with left sided arch (LAA), RAA infants had a lower median birth weight, (1.96 kg (IQR 1.54–2.65) vs. 2.57 kg (2.00–3.03), p = 0.01), earlier gestational age (34.5 weeks (IQR 32–37) vs. 37 weeks (35–39), p = 0.01), and a higher incidence of congenital heart disease (90% vs. 32%, p  0.29). Conclusion RAA in infants with EA/TEF is rare with an incidence of 5%. Compared to infants with EA/TEF and LAA, infants with EA/TEF and RAA are more severely ill with lower birth weight and higher rates of prematurity and complex congenital heart disease. In neonates with RAA, surgical repair of the EA/TEF is technically feasible via thoracotomy from either chest. A higher incidence of anastomotic strictures may occur with a right-sided approach

Draft Genome Sequencing of Giardia intestinalis Assemblage B Isolate GS: Is Human Giardiasis Caused by Two Different Species?

Giardia intestinalis is a major cause of diarrheal disease worldwide and two major Giardia genotypes, assemblages A and B, infect humans. The genome of assemblage A parasite WB was recently sequenced, and the structurally compact 11.7 Mbp genome contains simplified basic cellular machineries and metabolism. We here performed 454 sequencing to 16× coverage of the assemblage B isolate GS, the only Giardia isolate successfully used to experimentally infect animals and humans. The two genomes show 77% nucleotide and 78% amino-acid identity in protein coding regions. Comparative analysis identified 28 unique GS and 3 unique WB protein coding genes, and the variable surface protein (VSP) repertoires of the two isolates are completely different. The promoters of several enzymes involved in the synthesis of the cyst-wall lack binding sites for encystation-specific transcription factors in GS. Several synteny-breaks were detected and verified. The tetraploid GS genome shows higher levels of overall allelic sequence polymorphism (0.5 versus <0.01% in WB). The genomic differences between WB and GS may explain some of the observed biological and clinical differences between the two isolates, and it suggests that assemblage A and B Giardia can be two different species

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

BACKGROUND:Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS:We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy. Individuals of any age were recruited between Nov 26, 2007, and Aug 2, 2013, through the multicentre Epilepsy Phenome/Genome Project and Epi4K collaborations, and samples were sequenced at the Institute for Genomic Medicine (New York, USA) between Feb 6, 2013, and Aug 18, 2015. To identify epilepsy risk signals, we tested all protein-coding genes for an excess of ultra-rare genetic variation among the cases, compared with control samples with no known epilepsy or epilepsy comorbidity sequenced through unrelated studies. FINDINGS:We separately compared the sequence data from 640 individuals with familial genetic generalised epilepsy and 525 individuals with familial non-acquired focal epilepsy to the same group of 3877 controls, and found significantly higher rates of ultra-rare deleterious variation in genes established as causative for dominant epilepsy disorders (familial genetic generalised epilepsy: odd ratio [OR] 2·3, 95% CI 1·7-3·2, p=9·1 × 10-8; familial non-acquired focal epilepsy 3·6, 2·7-4·9, p=1·1 × 10-17). Comparison of an additional cohort of 662 individuals with sporadic non-acquired focal epilepsy to controls did not identify study-wide significant signals. For the individuals with familial non-acquired focal epilepsy, we found that five known epilepsy genes ranked as the top five genes enriched for ultra-rare deleterious variation. After accounting for the control carrier rate, we estimate that these five genes contribute to the risk of epilepsy in approximately 8% of individuals with familial non-acquired focal epilepsy. Our analyses showed that no individual gene was significantly associated with familial genetic generalised epilepsy; however, known epilepsy genes had lower p values relative to the rest of the protein-coding genes (p=5·8 × 10-8) that were lower than expected from a random sampling of genes. INTERPRETATION:We identified excess ultra-rare variation in known epilepsy genes, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population. Our results suggest that the emerging paradigm of targeting of treatments to the genetic cause in rare devastating epilepsies might also extend to a proportion of common epilepsies. These findings might allow clinicians to broadly explain the cause of these syndromes to patients, and lay the foundation for possible precision treatments in the future. FUNDING:National Institute of Neurological Disorders and Stroke (NINDS), and Epilepsy Research UK

New England Wind Energy Education Project (NEWEEP)

Project objective is to develop and disseminate accurate, objective information on critical wind energy issues impacting market acceptance of hundreds of land-based projects and vast off-shore wind developments proposed in the 6-state New England region, thereby accelerating the pace of wind installation from today's 140 MW towards the region's 20% by 2030 goals of 12,500 MW. Methodology: This objective will be accomplished by accumulating, developing, assembling timely, accurate, objective and detailed information representing the 'state of the knowledge' on critical wind energy issues impacting market acceptance, and widely disseminating such information. The target audience includes state agencies and local governments; utilities and grid operators; wind developers; agricultural and environmental groups and other NGOs; research organizations; host communities and the general public, particularly those in communities with planned or operating wind projects. Information will be disseminated through: (a) a series of topic-specific web conference briefings; (b) a one-day NEWEEP conference, back-to-back with a Utility Wind Interest Group one-day regional conference organized for this project; (c) posting briefing and conference materials on the New England Wind Forum (NEWF) web site and featuring the content on NEWF electronic newsletters distributed to an opt-in list of currently over 5000 individuals; (d) through interaction with and participation in Wind Powering America (WPA) state Wind Working Group meetings and WPA's annual All-States Summit, and (e) through the networks of project collaborators. Sustainable Energy Advantage, LLC (lead) and the National Renewable Energy Laboratory will staff the project, directed by an independent Steering Committee composed of a collaborative regional and national network of organizations. Major Participants - the Steering Committee: In addition to the applicants, the initial collaborators committing to form a Steering Committee consists of the Massachusetts Renewable Energy Trust; Maine Public Utilities Commission; New Hampshire office of Energy & Planning, the Connecticut Clean Energy Fund;, ISO New England; Utility Wind Interest Group; University of Massachusetts Wind Energy Center; Renewable Energy New England (a new partnership between the renewable energy industry and environmental public interest groups), and Lawrence Berkeley National Laboratory (conditionally). The Steering Committee will: (1) identify and prioritize topics of greatest interest or concern where detailed, objective and accurate information will advance the dialogue in the region; (2) identify critical outreach venues, influencers and experts; (3) direct and coordinate project staff; (4) assist project staff in planning briefings and conferences described below; (5) identify topics needing additional research or technical assistance and (6) identify and recruit additional steering committee members. Impacts/Benefits/Outcomes: By cutting through the clutter of competing and conflicting information on critical issues, this project is intended to encourage the market's acceptance of appropriately-sited wind energy generation

Neuroblastoma associated with persistent cloaca: A case report

We describe the case of a 4-year-old female who was born with persistent cloaca and was subsequently diagnosed with posterior mediastinal neuroblastoma. To our knowledge, this is the first case report of neuroblastoma associated with a cloacal malformation. Neither neuroblastoma nor persistent cloaca has a high incidence among the general population. Therefore, we share this case as a rare association of conditions, as well as a potential area for further investigation. © 2013 Elsevier Inc

Long-Term Follow-Up of Adamantinoma of the Tibia Complicated by Metastases and a Second Unrelated Primary Cancer: A Case Report and Literature Review

Adamantinoma is a rare, low-grade malignant tumor of the bone which grows slowly and typically occurs in the diaphysis of long bones, particularly in the tibia. Adamantinomas have the potential for local recurrence and may metastasize to the lungs, lymph nodes, or bone. We report a case of a 14-year-old female with a tibial adamantinoma who underwent wide resection with limb salvage and has subsequently been followed up for 18 years. The patient went on to have both a local soft tissue recurrence 5 years after the resection and metastases to both an inguinal lymph node and the right lower lobe of the lung 8 years after that recurrence, all of which have been treated successfully with marginal resections. Unique to this case, the patient was also incidentally found to have chromophobe-type renal cell carcinoma when undergoing a partial nephrectomy to resect a presumed metastasis of her adamantinoma. Genetic testing has not revealed any known genetic predisposition to cancer

Low-load resistance training during step-reduction attenuates declines in muscle mass and strength and enhances anabolic sensitivity in older men

Step-reduction (SR) in older adults results in muscle atrophy and an attenuated rise in postprandial muscle protein synthesis (MPS): anabolic resistance. Knowing that resistance exercise (RT) can enhance MPS, we examined whether RT could enhance MPS following 2 weeks of SR. In addition, as we postulated that SR may impair feeding-induced vasodilation limiting nutrient delivery to muscle, we also examined whether citrulline (CIT), as an arginine and nitric oxide precursor, could attenuate muscle anabolic resistance accompanying SR. We used a unilateral leg model to compare older subjects’ who had undergone SR to a loaded condition of SR plus RT (SR + RT). Thirty older men (70 ± 1 years) underwent 14 days of SR (<1500 steps/day) with supplementation of either 5 g/day CIT or glycine placebo. Throughout SR, subjects performed unilateral low-load RT thrice weekly. We assessed muscle protein synthesis in the postabsorptive and postprandial state (20 g whey isolate plus 15 g glycine or as micellar-whey with 5 g CIT or 15 g glycine, n = 10/group). As MPS was similar after ingestion of either whey isolate, micellar-whey, or micellar-whey + CIT data related to different dietary groups were collapsed to compare SR and SR + RT legs. Subjects’ daily steps were reduced by 80 ± 2% during SR (P < 0.001) compared with baseline. Leg fat-free mass decreased with SR (−124 ± 61 g) and increased in the SR + RT (+126 ± 68 g; P = 0.003). Myofibrillar FSR was lower (P < 0.0001) in the SR as compared with the SR + RT leg in the postabsorptive (0.026 ± 0.001%/h vs. 0.045 ± 0.001%/h) and postprandial states (0.055 ± 0.002%/h vs. 0.115 ± 0.003%/h). We conclude that low-load RT, but not supplementation with CIT, can attenuate the deleterious effects of SR in aging muscle

Surgical Outcomes, Bowel Habits and Quality of Life in Young Patients after Ileoanal Anastomosis for Ulcerative Colitis

Purpose: We aim to investigate the postoperative outcomes, bowel habits and quality of life (QoL) of younger pediatric ulcerative colitis (UC) patients following surgical intervention compared to an older pediatric population. Methods: Medical records of UC patients after colectomy with ileoanal reconstruction (2002-2013) at our institution were reviewed. Patients/parents completed a QoL, bowel habits and disease course questionnaire. Surgical outcomes, bowel habits and QoL were reported comparing the younger (≤11years old, n=26) to older (\u3e11years old, n=38) cohorts. Results: The mean age at colectomy was 7.04±0.63years vs 14.71±0.32years in the two groups. Patients had a significant (P Conclusions: Colectomy with ileoanal anastomosis for young children (≤11years old) with UC is without increased complications relative to older patients and maintains a postoperative QoL and stool patterns

Surgical Outcomes, Bowel Habits and Quality of Life in Young Patients after Ileoanal Anastomosis for Ulcerative Colitis

Purpose: We aim to investigate the postoperative outcomes, bowel habits and quality of life (QoL) of younger pediatric ulcerative colitis (UC) patients following surgical intervention compared to an older pediatric population. Methods: Medical records of UC patients after colectomy with ileoanal reconstruction (2002-2013) at our institution were reviewed. Patients/parents completed a QoL, bowel habits and disease course questionnaire. Surgical outcomes, bowel habits and QoL were reported comparing the younger (≤11years old, n=26) to older (\u3e11years old, n=38) cohorts. Results: The mean age at colectomy was 7.04±0.63years vs 14.71±0.32years in the two groups. Patients had a significant (P Conclusions: Colectomy with ileoanal anastomosis for young children (≤11years old) with UC is without increased complications relative to older patients and maintains a postoperative QoL and stool patterns