Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome

Case Study: Short Limbs, Earlier Diagnosis: Antenatal Presentation of Cornelia de Lange Syndrome. 30-year old female presented at 35 weeks gestation to Maternal-Fetal Medicine with intrauterine growth restriction (IUGR) • 9 weeks: Demise of two fetuses in the triplet trichorionic gestation • 11 weeks: Growth restriction of the remaining triplet noted. Negative genetic testing does not exclude the diagnosis of CdLS, which should remain in the differential diagnosis with antenatal findings of frontal bossing, micromelia, and first trimester IUGR

Semiconductor quantum dot - a quantum light source of multicolor photons with tunable statistics

We investigate the intensity correlation properties of single photons emitted from an optically excited single semiconductor quantum dot. The second order temporal coherence function of the photons emitted at various wavelengths is measured as a function of the excitation power. We show experimentally and theoretically, for the first time, that a quantum dot is not only a source of correlated non-classical monochromatic photons but is also a source of correlated non-classical \emph{multicolor} photons with tunable correlation properties. We found that the emitted photon statistics can be varied by the excitation rate from a sub-Poissonian one, where the photons are temporally antibunched, to super-Poissonian, where they are temporally bunched.Comment: 4 pages, 2 figure

Optical spectroscopy of single quantum dots at tunable positive, neutral and negative charge states

We report on the observation of photoluminescence from positive, neutral and negative charge states of single semiconductor quantum dots. For this purpose we designed a structure enabling optical injection of a controlled unequal number of negative electrons and positive holes into an isolated InGaAs quantum dot embedded in a GaAs matrix. Thereby, we optically produced the charge states -3, -2, -1, 0, +1 and +2. The injected carriers form confined collective 'artificial atoms and molecules' states in the quantum dot. We resolve spectrally and temporally the photoluminescence from an optically excited quantum dot and use it to identify collective states, which contain charge of one type, coupled to few charges of the other type. These states can be viewed as the artificial analog of charged atoms such as H$^{-}$, H$^{-2}$, H$^{-3}$, and charged molecules such as H$_{2}^{+}$ and H$_{3}^{+2}$. Unlike higher dimensionality systems, where negative or positive charging always results in reduction of the emission energy due to electron-hole pair recombination, in our dots, negative charging reduces the emission energy, relative to the charge-neutral case, while positive charging increases it. Pseudopotential model calculations reveal that the enhanced spatial localization of the hole-wavefunction, relative to that of the electron in these dots, is the reason for this effect.Comment: 5 figure

Biochemical and molecular diagnosis of erythropoietic protoporphyria in an Ashkenazi Jewish family

Summary: Erythropoietic protoporphyria (EPP) is a rare hereditary disorder due to a partial deficiency of ferrochelatase (FECH). The genotype of EPP patients features a mutation on one allele of the FECH gene and a common hypomorphic FECH IVS3-48c on the other allele (M/c). The resulting enzyme activity in patients is ∼35% of that in normal individuals. Ferrochelatase deficiency results in the accumulation of protoporphyrin in the skin, which is responsible for the clinical symptom of cutaneous photosensitivity in patients. In this study, we report the identification of a novel FECH mutation delT23 in an 11-member EPP family of Jewish origin. Two EPP siblings shared an identical genotype of delT23/IVS3-48c (M/c). They were both photosensitive and showed highly increased erythrocyte protoporphyrin. The genotype of the patients' mother, who did not present with any EPP clinical symptoms, was delT23/IVS3-48t (M/t). The patients' father, an offspring of consanguineous parents, was homozygous IVS3-48 c/c. He exhibited a mild photosensitivity, and an increase of 4-fold in erythrocyte protoporphyrin. His FECH mRNA amount was 71% of that of genotype t/t. It is the first reported case of an individual with c/c genotype who exhibits both biochemical and clinical indications of EPP. These results suggest that IVS3-48c is a functional variant of ferrochelatase. The clinical symptoms and biochemical abnormalities in the patients' father could be the result of an interaction between genetic and environmental factors. In addition, the frequency of IVS3-48c in the Ashkenazi Jewish population was estimated at 8%, which is similar to that in the European population

Late onset of Huntington's disease

Twenty-five patients with late-onset Huntington's disease were studied; motor impairment appeared at age 50 years or later. The average age at onset of chorea was 57.5 years, with an average age at diagnosis of 63.1 years. Approximately 25% of persons affected by Huntington's disease exhibit late onset. A preponderance of maternal transmission was noted in late-onset Huntington's disease. The clinical features resembled those of mid-life onset Huntington's disease but progressed more slowly. Neuropathological evaluation of two cases reveal less severe neuronal atrophy than for mid-life onset disease

Beyond deficit-based models of learners' cognition: Interpreting engineering students' difficulties with sense-making in terms of fine-grained epistemological and conceptual dynamics

Researchers have argued against deficit-based explanations of students' troubles with mathematical sense-making, pointing instead to factors such as epistemology: students' beliefs about knowledge and learning can hinder them from activating and integrating productive knowledge they have. In this case study of an engineering major solving problems (about content from his introductory physics course) during a clinical interview, we show that "Jim" has all the mathematical and conceptual knowledge he would need to solve a hydrostatic pressure problem that we posed to him. But he reaches and sticks with an incorrect answer that violates common sense. We argue that his lack of mathematical sense-making-specifically, translating and reconciling between mathematical and everyday/common-sense reasoning-stems in part from his epistemological views, i.e., his views about the nature of knowledge and learning. He regards mathematical equations as much more trustworthy than everyday reasoning, and he does not view mathematical equations as expressing meaning that tractably connects to common sense. For these reasons, he does not view reconciling between common sense and mathematical formalism as either necessary or plausible to accomplish. We, however, avoid a potential "deficit trap"-substituting an epistemological deficit for a concepts/skills deficit-by incorporating multiple, context-dependent epistemological stances into Jim's cognitive dynamics. We argue that Jim's epistemological stance contains productive seeds that instructors could build upon to support Jim's mathematical sense-making: He does see common-sense as connected to formalism (though not always tractably so) and in some circumstances this connection is both salient and valued.Comment: Submitted to the Journal of Engineering Educatio

High-field fMRI reveals brain activation patterns underlying saccade execution in the human superior colliculus

Background The superior colliculus (SC) has been shown to play a crucial role in the initiation and coordination of eye- and head-movements. The knowledge about the function of this structure is mainly based on single-unit recordings in animals with relatively few neuroimaging studies investigating eye-movement related brain activity in humans. Methodology/Principal Findings The present study employed high-field (7 Tesla) functional magnetic resonance imaging (fMRI) to investigate SC responses during endogenously cued saccades in humans. In response to centrally presented instructional cues, subjects either performed saccades away from (centrifugal) or towards (centripetal) the center of straight gaze or maintained fixation at the center position. Compared to central fixation, the execution of saccades elicited hemodynamic activity within a network of cortical and subcortical areas that included the SC, lateral geniculate nucleus (LGN), occipital cortex, striatum, and the pulvinar. Conclusions/Significance Activity in the SC was enhanced contralateral to the direction of the saccade (i.e., greater activity in the right as compared to left SC during leftward saccades and vice versa) during both centrifugal and centripetal saccades, thereby demonstrating that the contralateral predominance for saccade execution that has been shown to exist in animals is also present in the human SC. In addition, centrifugal saccades elicited greater activity in the SC than did centripetal saccades, while also being accompanied by an enhanced deactivation within the prefrontal default-mode network. This pattern of brain activity might reflect the reduced processing effort required to move the eyes toward as compared to away from the center of straight gaze, a position that might serve as a spatial baseline in which the retinotopic and craniotopic reference frames are aligned