Hirsute esophagus: Clinical and roentgen features

Clinical and roentgen features of hirsute esophagus in 3 patients are described. Exuberant hair growth and masses of hair in the endopharyngoesophagus produced the classic clinical triad of progressive dysphagia, hair-spitting, and choking spells. This unique and rare complication of reconstructive surgery of the pharynx and esophagus is related to the skin flaps which are mobilized and rotated to reconstruct a skin tube endopharyngoesophagus and to restore anatomical continuity of the gastrointestinal tract.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/48159/1/261_2005_Article_BF01887855.pd

Bolus dynamic computed tomography in the evaluation of pulmonary sequestration

Three cases of pulmonary sequestration evaluated by bolus dynamic computed tomography are described. The computed tomography appearance and the differential diagnosis are discussed. It is important to recognize the advantages of the bolus dynamic technique in the evaluation of pulmonary sequestration as it may eliminate the need for further studies.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/26560/1/0000099.pd

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Autism spectrum disorders (ASD) are believed to have genetic and environmental origins, yet in only a modest fraction of individuals can specific causes be identified1,2. To identify further genetic risk factors, we assess the role of de novo mutations in ASD by sequencing the exomes of ASD cases and their parents (n= 175 trios). Fewer than half of the cases (46.3%) carry a missense or nonsense de novo variant and the overall rate of mutation is only modestly higher than the expected rate. In contrast, there is significantly enriched connectivity among the proteins encoded by genes harboring de novo missense or nonsense mutations, and excess connectivity to prior ASD genes of major effect, suggesting a subset of observed events are relevant to ASD risk. The small increase in rate of de novo events, when taken together with the connections among the proteins themselves and to ASD, are consistent with an important but limited role for de novo point mutations, similar to that documented for de novo copy number variants. Genetic models incorporating these data suggest that the majority of observed de novo events are unconnected to ASD, those that do confer risk are distributed across many genes and are incompletely penetrant (i.e., not necessarily causal). Our results support polygenic models in which spontaneous coding mutations in any of a large number of genes increases risk by 5 to 20-fold. Despite the challenge posed by such models, results from de novo events and a large parallel case-control study provide strong evidence in favor of CHD8 and KATNAL2 as genuine autism risk factors

Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.Peer reviewe

Technology Transfer and Aspects of Patentability - Commercializing Nanotechnology

Clint Wimbish, an Associate at Kilpatrick Stockton, LLP presented a lecture at the Nano@Tech Meeting on March 25, 2008 at 12 noon in room 102 of the MiRC buildingRuntime: 61:00 minutesTechnology transfer is the critical process of capturing discoveries and innovations in the laboratory and turning such discoveries and innovations into useful applications for the benefit of society. In this seminar, the technology transfer process was discussed in relation to the field of nanotechnology. In addition to the technology transfer process, various aspects of patentability were discussed with a focus on nanotechnology. Practical tips for protecting inventions in view of United States and international patent laws were also covered

The Effect of Motorized vs Non-Motorized Treadmills on Exercise Economy during Acute Sub-maximal Bouts in Collegiate Cross-Country Female Athletes

Background: Fitness equipment manufacturers have developed non-motorized treadmills (NMT) to better replicate overground running, a characteristic which motorized treadmills (MT) purportedly lack. Because NMTs are novel, limited empirical evidence exists regarding acute physiological and neuromuscular activity responses to its use. Objectives: The purpose of this investigation was to examine the effect of walking and running on an NMT and MT on exercise economy (EE), cardiometabolic responses, lower-body muscle activity, and rating of perceived exertion (RPE) in division II female cross-country athletes. Methods: Thirteen female cross-country athletes volunteered to complete a treadmill protocol that consisted of a warm-up walk, a 5-min walk, a 5-min run, and a 5-min cool-down walk on an NMT and MT on two separate occasions. During both treadmill conditions, VO2, RER, neuromuscular activity, HR, and RPE were recorded and analyzed every minute. Results: VO2 (NMT= 36.8 ± 10.0 ml/kg/min; MT= 27.4 ± 6.7 ml/kg/min), RER (NMT= 1.02 ± 0.14; MT= 0.89 ± 0.08), HR (NMT= 167 ± 18 bpm; MT= 142 ± 21 bpm), and RPE (NMT= 12 ± 2; MT= 9 ± 2) measures were significantly (p<0.05 for all) greater on the NMT than the MT in walking and running. Conclusions: The greater VO2, RER, and HR experienced on the NMT indicates higher physical exertion, and the greater RPE on the NMT indicates the participants’ perception of exertion correspond to the physiological responses. While cardiometabolic demand was greater on the NMT, thereby suggesting exercise economy was greater with the MT