Outcomes in Children with Additional Disabilities Following Cochlear Implantation: A Systematic Review

Background: Thirty percent of children with hearing loss have an additional disability. These children may be difficult to test according to standard audiologic behavioral test protocols. Additionally, progress within this population may present differently than in children with no additional disability. Currently, no evidence-based protocol exists for assessing cochlear implant benefit and outcomes in this population. Objective: The purpose of this investigation is to perform a systematic review on the outcomes of cochlear implantation in children with additional disabilities. Specifically, this study focused on areas of function assessed, outcome measures used, and evidence of benefit observed. Methods: A comprehensive search was conducted utilizing the databases MEDLINE/PubMed, OneFile, ProQuest Nursing & Allied Health Source. The keywords used to identify relevant studies included pediatric, special needs, developmental disabilities, functional assessment, outcomes, benefit.” The keywords cochlear implantation or cochlear implant” were present throughout all searches. Results: Included in this study were 24 articles. The results revealed that despite wide variability among the studies, some benefit was observed in children with cochlear implantation and additional disabilities in the areas of auditory skills and speech perception, receptive and expressive language, and adaptive behaviors. Discussion: Many challenges arose when studying this population. Limited experimental control as well as wide variability in disability type were major issues noted throughout this review. However, overall children with cochlear implantation and additional disabilities showed some improvement in all areas, although they still did not perform as well as children with cochlear implantation and no additional disabilities, or normally hearing peers matched according to age and cognitive abilities. Conclusions: Research in this area is challenging due to the limitations involved in the ability to produce randomized, double blind studies to determine value of cochlear implantation in this population. Cognitive ability is a strong, but not the only, predictor of performance. Although on average the lower the cognitive ability, the lower the post implant performance, there was much variability among participants, adding to the challenge of deciding whether to implant such a child. There is some evidence to support the implantation of children with additional disabilities, however, more research is recommended involving more multicenter collaborations to increase the participant pool and to isolate individual disabilities to establish performance. Research should continue to explore use of alternative assessments such as quality of life measures

Non-equilibrium coherence dynamics of a soft boson lattice

We study the non-equilibrium evolution of the phase coherence of a Bose-Einstein condensate (BEC) in a one dimensional optical lattice, as the lattice is suddenly quenched from an insulating to a superfluid state. We observe slowly damped phase coherence oscillations in the regime of large filling factor (~100 bosons per site) at a frequency proportional to the generalized Josephson frequency. The truncated Wigner approximation (TWA) predicts the frequency of the observed oscillations.Comment: 10 pages. 4 figure

From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases.

Enzymes in the transcarbamylase family catalyze the transfer of a carbamyl group from carbamyl phosphate (CP) to an amino group of a second substrate. The two best-characterized members, aspartate transcarbamylase (ATCase) and ornithine transcarbamylase (OTCase), are present in most organisms from bacteria to humans. Recently, structures of four new transcarbamylase members, N-acetyl-l-ornithine transcarbamylase (AOTCase), N-succinyl-l-ornithine transcarbamylase (SOTCase), ygeW encoded transcarbamylase (YTCase) and putrescine transcarbamylase (PTCase) have also been determined. Crystal structures of these enzymes have shown that they have a common overall fold with a trimer as their basic biological unit. The monomer structures share a common CP binding site in their N-terminal domain, but have different second substrate binding sites in their C-terminal domain. The discovery of three new transcarbamylases, l-2,3-diaminopropionate transcarbamylase (DPTCase), l-2,4-diaminobutyrate transcarbamylase (DBTCase) and ureidoglycine transcarbamylase (UGTCase), demonstrates that our knowledge and understanding of the spectrum of the transcarbamylase family is still incomplete. In this review, we summarize studies on the structures and function of transcarbamylases demonstrating how structural information helps to define biological function and how small structural differences govern enzyme specificity. Such information is important for correctly annotating transcarbamylase sequences in the genome databases and for identifying new members of the transcarbamylase family

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male

Ornithine transcarbamylase (OTC) deficiency is an X-linked urea cycle defect. While hemizygous males typically present with hyperammonemic coma in infancy, reports of rare late-onset presentations exist, with poor outcomes in males up to 58 years old. Relatives with mutations identical to affected patients often remain asymptomatic, and it is likely that environmental and genetic factors influence disease penetrance and expression. Here, we present our investigation of a patient with late-onset presentation, and we emphasize the potential role of environmental and genetic factors on disease expression. The patient was a previously healthy 62-year-old man who developed mental slowing, refractory seizures, and coma over an 8-day period. Interestingly, the patient had recently used home gardening fertilizers and pesticides. Evaluations for drug and alcohol use, infections, and liver disease were negative. Despite aggressive therapy, blood NH3 concentration peaked at 2,050 μM and the patient died from cerebral edema and cerebellar herniation. Analysis of the OTC gene showed a Pro-225-Thr (P225T) change in exon 7, a mutation that has been previously implicated in OTC deficiency. This case illustrates that OTC deficiency can cause acute, severe hyperammonemia in a previously healthy adult and that the P225T mutation can be associated with late-onset OTC deficiency. We speculate that exposure to organic chemicals might have contributed to the onset of symptoms in this patient. This case also emphasizes that persistent hyperammonemia may cause irreversible neurologic damage and that after the diagnosis of hyperammonemia is established in an acutely ill patient, certain diagnostic tests should be performed to differentiate between urea cycle disorders and other causes of hyperammonemic encephalopathy

Transitionless quantum drivings for the harmonic oscillator

Two methods to change a quantum harmonic oscillator frequency without transitions in a finite time are described and compared. The first method, a transitionless-tracking algorithm, makes use of a generalized harmonic oscillator and a non-local potential. The second method, based on engineering an invariant of motion, only modifies the harmonic frequency in time, keeping the potential local at all times.Comment: 11 pages, 1 figure. Submitted for publicatio

Bayesian estimation for selective trace gas detection

We present a Bayesian estimation analysis for a particular trace gas detection technique with species separation provided by differential diffusion. The proposed method collects a sample containing multiple gas species into a common volume, and then allows it to diffuse across a linear array of optical absorption detectors, using, for example, high-finesse Fabry-Perot cavities. The estimation procedure assumes that all gas parameters (e.g. diffusion constants, optical cross sections) are known except for the number population of each species, which are determined from the time-of-flight absorption profiles in each detector

Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms

N-acetylglutamate synthase (NAGS) catalyzes the conversion of AcCoA and L-glutamate to CoA and N-acetyl-L-glutamate (NAG), an obligate cofactor for carbamyl phosphate synthetase I (CPSI) in the urea cycle. NAGS deficiency results in elevated levels of plasma ammonia which is neurotoxic. We report herein the first crystal structure of human NAGS, that of the catalyticN-acetyltransferase (hNAT) domain with N-acetyl-L-glutamate bound at 2.1 Å resolution. Functional studies indicate that the hNAT domain retains catalytic activity in the absence of the amino acid kinase (AAK) domain. Instead, the major functions of the AAK domain appear to be providing a binding site for the allosteric activator, L-arginine, and an N-terminal proline-rich motif that is likely to function in signal transduction to CPS1. Crystalline hNAT forms a dimer similar to the NAT-NAT dimers that form in crystals of bifunctional N-acetylglutamate synthase/kinase (NAGS/K) from Maricaulis maris and also exists as a dimer in solution. The structure of the NAG binding site, in combination with mutagenesis studies, provide insights into the catalytic mechanism. We also show that native NAGS from human and mouse exists in tetrameric form, similar to those of bifunctional NAGS/K

Localization and Anomalous Transport in a 1-D Soft Boson Optical Lattice

We study the dynamics of Bose-Einstein condensed atoms in a 1-D optical lattice potential in a regime where the collective (Josephson) tunneling energy is comparable with the on-site interaction energy, and the number of particles per lattice site is mesoscopically large. By directly imaging the motion of atoms in the lattice, we observe an abrupt suppression of atom transport through the array for a critical ratio of these energies, consistent with quantum fluctuation induced localization. Directly below the onset of localization, the frequency of the observed superfluid transport can be explained by a phonon excitation but deviates substantially from that predicted by the hydrodynamic/Gross-Pitaevskii equations.Comment: 14 pages, 5 figure

Recurrent encephalopathy: NAGS (N-Acetylglutamate Synthase) deficiency in adults

N-acetyl-glutamate synthase (NAGS) deficiency is a rare autosomal recessive urea cycle disorder (UCD) that uncommonly presents in adulthood. Adult presentations of UCDs include; confusional episodes, neuropsychiatric symptoms and encephalopathy. To date, there have been no detailed neurological descriptions of an adult onset presentation of NAGS deficiency. In this review we examine the clinical presentation and management of UCDs with an emphasis on NAGS deficiency. An illustrative case is provided. Plasma ammonia levels should be measured in all adult patients with unexplained encephalopathy, as treatment can be potentially life-saving. Availability of N-carbamylglutamate (NCG; carglumic acid) has made protein restriction largely unnecessary in treatment regimens currently employed. Genetic counselling remains an essential component of management of NAGS

Up and Out: Journalism, Social Media, and Historical Sensibility

Much of the modern theorizing about journalism and communication attained its robustness due to a powerful convergence of distinct middle-range scholarly findings that emerged primarily in the 1970s and 1980s. In the present day, when we turn our analytical gaze to the relationship between journalism and social media, we thus need to strike a delicate balance between conducting new qualitative research, re-conceptualizing and re-interrogating the classic conclusions of political communication scholarship, and linking these two aspects of research together. However, we might also wish to extend our analytical gaze “out,” interrogating the movement of journalistic technology across history, as well as “up,” looking at how journalism fits within larger structural explanations regarding the shape of political life