Andersen-Tawil Syndrome

Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients with ATS. To date, KCNJ2 is the only gene implicated in ATS, accounting for approximately 60% of cases. ATS is a unique channelopathy, and represents the first link between cardiac and skeletal muscle excitability. The arrhythmias observed in ATS are distinctive; patients may be asymptomatic, or minimally symptomatic despite a high arrhythmia burden with frequent ventricular ectopy and bidirectional ventricular tachycardia. However, patients remain at risk for life-threatening arrhythmias, including torsades de pointes and ventricular fibrillation, albeit less commonly than observed in other genetic arrhythmia syndromes. The characteristic heterogeneity at both the genotypic and phenotypic levels contribute to the continued difficulties with appropriate diagnosis, risk stratification, and effective therapy. The initial recognition of a syndromic association of clinically diverse symptoms, and the subsequent identification of the underlying molecular genetic basis of ATS has enhanced both clinical care, and our understanding of the critical function of Kir2.1 on skeletal muscle excitability and cardiac action potentia

Terrestrial locomotion of the northern elephant seal (Mirounga angustirostris): limitation of large aquatically adapted seals on land?

The aquatic specializations of phocid seals have restricted their ability to locomote on land. The amphibious northern elephant seal, Mirounga angustirostris, is the second largest phocid seal in the world, with males reaching 2700 kg. Although elephant seals are proficient swimmers and deep divers, their extreme size and aquatic specializations limit terrestrial movement. The kinematics of terrestrial locomotion in northern elephant seals were analyzed from video recordings of animals observed on the beach of Añ o Nuevo State Reserve, CA, USA. The seals moved using a series of rhythmic undulations produced by dorsoventral spinal flexion. The traveling spinal wave moved anteriorly along the dorsal margin of the body with the chest, pelvic region and foreflippers serving as the main points of contact with the ground. The hindflippers were not used. The spinal wave and foreflippers were used to lift the chest off the ground as the body was pushed forward from the pelvis as the foreflippers were retracted to pull the body forward. Seals moved over land at 0.41–2.56 m s−1 (0.12–0.71 body lengths s−1 ). The frequency and amplitude of spinal flexions both displayed a direct increase with increasing speed. The duty factor for the pelvic region decreased with increasing velocity while the duty factor of the foreflipper remained constant. Kinematic data for elephant seals and other phocids were used in a biomechanical model to calculate the mechanical energy expended during terrestrial locomotion. The elephant seals were found to expend more energy when traveling over land for their size than smaller phocids. The unique method of terrestrial movement also exhibited greater energy expenditure on land than values for large quadrupeds. The trade-off for the northern elephant seal is that its massive size and morphology have well adapted it to an aquatic existence but limited its locomotor performance (i.e. speed, endurance) on land

On the rules for aquatic locomotion

We present unifying rules governing the efficient locomotion of swimming fish and marine mammals. Using scaling and dimensional analysis, supported by new experimental data, we show that efficient locomotion occurs when the values of the Strouhal (St) number St(=f A/U) and A∗(=A/L), two nondimensional numbers that relate forward speed U, tail-beat amplitude A, tail-beat frequency f , and the length of the swimmer L are bound to the tight ranges of 0.2–0.4 and 0.1–0.3, respectively. The tight range of 0.2–0.4 for the St number has previously been associated with optimal thrust generation. We show that the St number alone is insufficient to achieve optimal aquatic locomotion, and an additional condition on A∗ is needed. More importantly, we show that when swimming at minimal power consumption, the Strouhal number of a cruising swimmer is predetermined solely by the shape and drag characteristics of the swimmer. We show that diverse species of fish and cetaceans cruise indeed with the St number and A∗ predicted by our theory. Our findings provide a physical explanation as to why fast aquatic swimmers cruise with a relatively constant tail-beat amplitude of approximately 20% of the body length, and their swimming speed is nearly proportional to their tail-beat frequenc

Kinematics of swimming of the manta ray: three-dimensional analysis of open water maneuverability

For aquatic animals, turning maneuvers represent a locomotor activity that may not be confined to a single coordinate plane, making analysis difficult particularly in the field. To measure turning performance in a three-dimensional space for the manta ray (Mobula birostris), a large open-water swimmer, scaled stereo video recordings were collected. Movements of the cephalic lobes, eye and tail base were tracked to obtain three-dimensional coordinates. A mathematical analysis was performed on the coordinate data to calculate the turning rate and curvature (1/turning radius) as a function of time by numerically estimating the derivative of manta trajectories through three-dimensional space. Principal component analysis (PCA) was used to project the three-dimensional trajectory onto the two-dimensional turn. Smoothing splines were applied to these turns. These are flexible models that minimize a cost function with a parameter controlling the balance between data fidelity and regularity of the derivative. Data for 30 sequences of rays performing slow, steady turns showed the highest 20% of values for the turning rate and smallest 20% of turn radii were 42.65+16.66 deg s-1 and 2.05+1.26 m, respectively. Such turning maneuvers fall within the range of performance exhibited by swimmers with rigid bodies

Hydrodynamic properties of fin whale flippers predict maximum rolling performance

Maneuverability is one of the most important and least understood aspects of animal locomotion. The hydrofoil-like flippers of cetaceans are thought to function as control surfaces that effect maneuvers, but quantitative tests of this hypothesis have been lacking. Here, we constructed a simple hydrodynamic model to predict the longitudinal-axis roll performance of fin whales, and we tested its predictions against kinematic data recorded by on-board movement sensors from 27 free-swimming fin whales. We found that for a given swimming speed and roll excursion, the roll velocity of fin whales calculated from our field data agrees well with that predicted by our hydrodynamic model. Although fluke and body torsion may further influence performance, our results indicate that lift generated by the flippers is sufficient to drive most of the longitudinal-axis rolls used by fin whales for feeding and maneuvering

Cosmetic outcomes and quality of life in children with cardiac implantable electronic devices

BackgroundAxillary implant location is an alternative implant location in patients for cardiac implantable electronic devices (CIEDs) for the purposes of improved cosmetic outcome. The impact from the patient’s perspective is unknown. The purpose of this study was to compare scar perception scores and quality of life (QOL) in pediatric patients with axillary CIED implant location versus the standard infraclavicular approach.MethodsThis is a multicenter prospective study conducted at eight pediatric centers and it includes patients aged from 8 to 18 years with a CIED. Patients with prior sternotomy were excluded. Scar perception and QOL outcomes were compared between the infraclavicular and axillary implant locations.ResultsA total of 141 patients (83 implantable cardioverter defibrillator [ICD]/58 pacemakers) were included, 55 with an axillary device and 86 with an infraclavicular device. Patients with an ICD in the axillary position had better perception of scar appearance and consciousness. Patients in the axillary group reported, on average, a total Pediatric QOL Inventory score that was 6 (1, 11) units higher than the infraclavicular group, after adjusting for sex and race (P = 0.02).ConclusionsQOL is significantly improved in axillary in comparison to the infraclavicular CIED position, regardless of device type. Scar perception is improved in patients with ICD in the axillary position.Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/147032/1/pace13522.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/147032/2/pace13522_am.pd

Scaling of oscillatory kinematics and Froude efficiency in baleen whales

High efficiency lunate-tail swimming with high-aspect-ratio lifting surfaces has evolved in many vertebrate lineages, from fish to cetaceans. Baleen whales (Mysticeti) are the largest swimming animals that exhibit this locomotor strategy, and present an ideal study system to examine how morphology and the kinematics of swimming scale to the largest body sizes. We used data from whale-borne inertial sensors coupled with morphometric measurements from aerial drones to calculate the hydrodynamic performance of oscillatory swimming in six baleen whale species ranging in body length from 5 to 25 m (fin whale, Balaenoptera physalus; Bryde\u27s whale, Balaenoptera edeni; sei whale, Balaenoptera borealis; Antarctic minke whale, Balaenoptera bonaerensis; humpback whale, Megaptera novaeangliae; and blue whale, Balaenoptera musculus). We found that mass-specific thrust increased with both swimming speed and body size. Froude efficiency, defined as the ratio of useful power output to the rate of energy input (Sloop, 1978), generally increased with swimming speed but decreased on average with increasing body size. This finding is contrary to previous results in smaller animals, where Froude efficiency increased with body size. Although our empirically parameterized estimates for swimming baleen whale drag were higher than those of a simple gliding model, oscillatory locomotion at this scale exhibits generally high Froude efficiency as in other adept swimmers. Our results quantify the fine-scale kinematics and estimate the hydrodynamics of routine and energetically expensive swimming modes at the largest scale