Prader-Willi syndrome: are there population differences?

A 15 1/2-year-old black female with features consistent with the Prader-Willi syndrome is reported. This is the second case report of a black individual and the first case of a black female with the Prader-Willi syndrome. There is an apparent paucity of blacks reported with this condition. Whether this difference is a true difference or represents under-reporting is not known. We urge reporting of individuals representing other racial groups with this disorder and suggest population studies to determine the incidence as well as the true population difference in the Prader-Willi syndrome

Metacarpophalangeal pattern profile analysis in diastrophic dysplasia

We analyzed the metacarpophalangeal pattern profile (MCPP) on 16 individuals with diastrophic dysplasia and calculated a mean syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in diastrophic dysplasia. Discriminant analysis of individuals with diastrophic dysplasia compared with a sample of normal individuals produced a function of 3 MCPP variables plus age that appears to be a useful diagnostic tool

Quantum entanglement between a nonlinear nanomechanical resonator and a microwave field

We consider a theoretical model for a nonlinear nanomechanical resonator coupled to a superconducting microwave resonator. The nanomechanical resonator is driven parametrically at twice its resonance frequency, while the superconducting microwave resonator is driven with two tones that differ in frequency by an amount equal to the parametric driving frequency. We show that the semi-classical approximation of this system has an interesting fixed point bifurcation structure. In the semi-classical dynamics a transition from stable fixed points to limit cycles is observed as one moves from positive to negative detuning. We show that signatures of this bifurcation structure are also present in the full dissipative quantum system and further show that it leads to mixed state entanglement between the nanomechanical resonator and the microwave cavity in the dissipative quantum system that is a maximum close to the semi-classical bifurcation. Quantum signatures of the semi-classical limit-cycles are presented.Comment: 36 pages, 18 figure

Metacarpophalangeal Pattern Profile Analysis in Sotos Syndrome: A Follow-up Report on 34 Subjects

Metacarpophalangeal pattern profile (MCPP) was determined on 34 Sotos syndrome individuals and compared with previous MCPP studies. The mean hand profile contained a major peak in the proximal phalangeal area and a smaller peak in the metacarpal area, while the distal hand bones were relatively short. There appear to be three recognized hand profiles in Sotos syndrome, which suggests heterogeneity of the syndrome, although correlation studies indicate clinical homogeneity of individuals in the younger age groups. Discriminant analysis of Sotos syndrome versus control subjects produced a function of two MCPP variables, plus age, which may be applied as another diagnostic tool

Synchronization of many nano-mechanical resonators coupled via a common cavity field

Using amplitude equations, we show that groups of identical nano-mechanical resonators, interacting with a common mode of a cavity microwave field, synchronize to form a single mechanical mode which couples to the cavity with a strength dependent on the square sum of the individual mechanical-microwave couplings. Classically this system is dominated by periodic behaviour which, when analyzed using amplitude equations, can be shown to exhibit multi-stability. In contrast groups of sufficiently dissimilar nano-mechanical oscillators may lose synchronization and oscillate out of phase at significantly higher amplitudes. Further the method by which synchronization is lost resembles that for large amplitude forcing which is not of the Kuramoto form.Comment: 23 pages, 11 figure

Handwriting Analysis on the Diaries of Rosamond Jacob

Handwriting is an art form that most people learn at an early age. Each person's writing style is unique with small changes as we grow older and as our mood changes. Here we analyse handwritten text in a culturally significant personal diary. We compare changes in handwriting and relate this to the sentiment of the written material and to the topic of diary entries. We identify handwritten text from digitised images and generate a canonical form for words using shape matching to compare how the same handwritten word appears over a period of time. For determining the sentiment of diary entries, we use the Hedonometer, a dictionary-based approach to scoring sentiment. We apply these techniques to the historical diary entries of Rosamond Jacob (1888-1960), an Irish writer and political activist whose daily diary entries report on the major events in Ireland during the first half of the last century.Comment: International Conference on Content-based Multimedia Indexing, September 20--22, 2023, Orleans, Franc

Metacarpophalangeal pattern profile analysis in Robinow syndrome

We analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variable that may provide a useful tool for diagnosis

Metacarpophalangeal pattern profile analysis in fragile X syndrome

We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin-Bell—syndrome and calculated a mean syndrome profile. Fourteen of 18 individuals with fra (X) syndrome had significant positive correlations which indicated clinical homogeneity. Discriminant analysis of individuals with fra (X) syndrome compared with a sample of normal individuals produced a correct classification rate of 88% based on a function of 3 MCPP variables that may provide a useful tool in screening individuals for the fra (X) syndrome. Discriminant and correlation analyses of individuals with Sotos sequence and individuals with fra (X) syndrome did not identify MCPP similarities. Therefore, there was no MCPP evidence in our study of patients with Sotos sequence and fra (X) chromosome expression

Mechanical disruption of the blood-brain barrier following experimental concussion

Although concussion is now recognized as a major health issue, its non-lethal nature has limited characterization of the underlying pathophysiology. In particular, potential neuropathological changes have typically been inferred from non-invasive techniques or post-mortem examinations of severe traumatic brain injury (TBI). Here, we used a swine model of head rotational acceleration based on human concussion to examine blood–brain barrier (BBB) integrity after injury in association with diffuse axonal injury and glial responses. We then determined the potential clinical relevance of the swine concussion findings through comparisons with pathological changes in human severe TBI, where post-mortem examinations are possible. At 6–72 h post-injury in swine, we observed multifocal disruption of the BBB, demonstrated by extravasation of serum proteins, fibrinogen and immunoglobulin-G, in the absence of hemorrhage or other focal pathology. BBB disruption was observed in a stereotyped distribution consistent with biomechanical insult. Specifically, extravasated serum proteins were frequently observed at interfaces between regions of tissue with differing material properties, including the gray–white boundary, periventricular and subpial regions. In addition, there was substantial overlap of BBB disruption with regions of axonal pathology in the white matter. Acute perivascular cellular uptake of blood-borne proteins was observed to be prominent in astrocytes (GFAP-positive) and neurons (MAP-2-positive), but not microglia (IBA1-positive). Parallel examination of human severe TBI revealed similar patterns of serum extravasation and glial uptake of serum proteins, but to a much greater extent than in the swine model, attributed to the higher injury severity. These data suggest that BBB disruption represents a new and important pathological feature of concussion

A Multiscale Approach to Blast Neurotrauma Modeling: Part II: Methodology for Inducing Blast Injury to in vitro Models

Due to the prominent role of improvised explosive devices (IEDs) in wounding patterns of U.S. war-fighters in Iraq and Afghanistan, blast injury has risen to a new level of importance and is recognized to be a major cause of injuries to the brain. However, an injury risk-function for microscopic, macroscopic, behavioral, and neurological deficits has yet to be defined. While operational blast injuries can be very complex and thus difficult to analyze, a simplified blast injury model would facilitate studies correlating biological outcomes with blast biomechanics to define tolerance criteria. Blast-induced traumatic brain injury (bTBI) results from the translation of a shock wave in-air, such as that produced by an IED, into a pressure wave within the skull–brain complex. Our blast injury methodology recapitulates this phenomenon in vitro, allowing for control of the injury biomechanics via a compressed-gas shock tube used in conjunction with a custom-designed, fluid-filled receiver that contains the living culture. The receiver converts the air shock wave into a fast-rising pressure transient with minimal reflections, mimicking the intracranial pressure history in blast. We have developed an organotypic hippocampal slice culture model that exhibits cell death when exposed to a 530 ± 17.7-kPa peak overpressure with a 1.026 ± 0.017-ms duration and 190 ± 10.7 kPa-ms impulse in-air. We have also injured a simplified in vitro model of the blood–brain barrier, which exhibits disrupted integrity immediately following exposure to 581 ± 10.0 kPa peak overpressure with a 1.067 ± 0.006-ms duration and 222 ± 6.9 kPa-ms impulse in-air. To better prevent and treat bTBI, both the initiating biomechanics and the ensuing pathobiology must be understood in greater detail. A well-characterized, in vitro model of bTBI, in conjunction with animal models, will be a powerful tool for developing strategies to mitigate the risks of bTBI