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Lipoid proteinosis is a rare autosomal recessive disorder caused by mutations in the extracellular matrix protein 1 gene. It is characterised by deposition of hyaline material in the skin and mucous membranes. This paper describes the management of two cases with laryngopharyngeal disease.
Two patients with a biopsy diagnosis of lipoid proteinosis were identified from the surgical pathology archive covering the period 2004–2016. Their notes were reviewed.
An adult male and an adult female were identified. Both had dysphonia and laryngopharyngeal lesions. The patients underwent interval laser microlaryngoscopy to debulk disease but minimise mucosal injury and scarring, using a ‘pepper pot’ technique. Both had adequate symptom control.
Lipoid proteinosis is a rare genetic condition, which typically presents in infancy with dysphonia and subsequent skin involvement. Two cases are presented to demonstrate that laryngotracheal symptoms can be controlled with interval laser debulking and the ‘pepper pot’ technique without causing stenosis.
Anti-retroviral therapy (ART) regimes for HIV are associated with raised levels of circulating triglycerides (TGs) in western populations. However, there are limited data on the impact of ART on cardiometabolic risk in sub-Saharan African (SSA) populations.
Pooled analyses of 14 studies comprising 21 023 individuals, on whom relevant cardiometabolic risk factors (including TG), HIV and ART status were assessed between 2003 and 2014, in SSA. The association between ART and raised TG (>2.3 mmol/L) was analysed using regression models.
Among 10 615 individuals, ART was associated with a two-fold higher probability of raised TG (RR 2.05, 95% CI 1.51–2.77, I2 = 45.2%). The associations between ART and raised blood pressure, glucose, HbA1c, and other lipids were inconsistent across studies.
Evidence from this study confirms the association of ART with raised TG in SSA populations. Given the possible causal effect of raised TG on cardiovascular disease (CVD), the evidence highlights the need for prospective studies to clarify the impact of long term ART on CVD outcomes in SSA.
With the changing distribution of infectious diseases, and an increase in the burden of non-communicable diseases, low- and middle-income countries, including those in Africa, will need to expand their health care capacities to effectively respond to these epidemiological transitions. The interrelated risk factors for chronic infectious and non-communicable diseases and the need for long-term disease management, argue for combined strategies to understand their underlying causes and to design strategies for effective prevention and long-term care. Through multidisciplinary research and implementation partnerships, we advocate an integrated approach for research and healthcare for chronic diseases in Africa.
Accidental hypothermia can lead to untoward cardiac manifestations and arrest. This report presents a case series of severe accidental hypothermia with cardiac complications in three emergency patients who were treated with extracorporeal membrane oxygenation (ECMO) and survived after re-warming. The aim of this discussion was to encourage more clinicians to consider ECMO as a re-warming therapy for severe hypothermia with circulatory collapse and to prompt discussion about decreasing the barriers to its use.
NiehausMT, PechulisRM, WuJK, FreiS, HongJJ, SandhuRS, GreenbergMR. Extracorporeal Membrane Oxygenation (ECMO) for Hypothermic Cardiac Deterioration: A Case Series. Prehosp Disaster Med. 2016;31(5):570–571.
Although individual radio pulses from pulsars vary in amplitude from pulse to pulse, their height distribution in general does not extend to amplitudes more than 10 times the mean. Two notable exceptions are the Crab pulsar and PSR B1937+21 (Lundgren 1995, Cognard et al. 1996 and references therein) which occasionally emit single radio pulses that have amplitudes more than 100 times the mean. Here we report on the detection of short time-scale, extremely large amplitude radio pulses from the nearby millisecond pulsar PSR J0437–4715. The events we have observed are distinguished by having peak flux densities in excess of 10 times the average pulse amplitude, and occur only within a very narrow (80 µs) window centered on the main pulse.
The burden and aetiology of type 2 diabetes (T2D) and its microvascular complications may be influenced by varying behavioural and lifestyle environments as well as by genetic susceptibility. These aspects of the epidemiology of T2D have not been reliably clarified in sub-Saharan Africa (SSA), highlighting the need for context-specific epidemiological studies with the statistical resolution to inform potential preventative and therapeutic strategies. Therefore, as part of the Human Heredity and Health in Africa (H3Africa) initiative, we designed a multi-site study comprising case collections and population-based surveys at 11 sites in eight countries across SSA. The goal is to recruit up to 6000 T2D participants and 6000 control participants. We will collect questionnaire data, biophysical measurements and biological samples for chronic disease traits, risk factors and genetic data on all study participants. Through integrating epidemiological and genomic techniques, the study provides a framework for assessing the burden, spectrum and environmental and genetic risk factors for T2D and its complications across SSA. With established mechanisms for fieldwork, data and sample collection and management, data-sharing and consent for re-approaching participants, the study will be a resource for future research studies, including longitudinal studies, prospective case ascertainment of incident disease and interventional studies.
The Durban Diabetes Study (DDS) is a population-based cross-sectional survey of an urban black population in the eThekwini Municipality (city of Durban) in South Africa. The survey combines health, lifestyle and socioeconomic questionnaire data with standardised biophysical measurements, biomarkers for non-communicable and infectious diseases, and genetic data. Data collection for the study is currently underway and the target sample size is 10 000 participants. The DDS has an established infrastructure for survey fieldwork, data collection and management, sample processing and storage, managed data sharing and consent for re-approaching participants, which can be utilised for further research studies. As such, the DDS represents a rich platform for investigating the distribution, interrelation and aetiology of chronic diseases and their risk factors, which is critical for developing health care policies for disease management and prevention. For data access enquiries please contact the African Partnership for Chronic Disease Research (APCDR) at firstname.lastname@example.org or the corresponding author.
Our objective in the present study was to conduct the first empirical study of the effects of regular physical activity habits and their relationship with brain volume and cortical thickness in patients in the early phase of schizophrenia. Relationships between larger brain volumes and higher physical activity levels have been reported in samples of healthy and aging populations, but have never been explored in first-episode schizophrenia patients. Method: We collected MRI structural scans in 14 first-episode schizophrenia patients with either self-reported low or high physical activity levels. We found a reduction in total gray matter volume, prefrontal cortex (PFC), and hippocampal gray matter volumes in the low physical activity group compared to the high activity group. Cortical thickness in the dorsolateral and orbitofrontal PFC were also significantly reduced in the low physical activity group compared to the high activity group. In the combined sample, greater overall physical activity levels showed a non-significant tendency with better performance on tests of verbal memory and social cognition. Together these pilot study findings suggest that greater amounts of physical activity may have a positive influence on brain health and cognition in first-episode schizophrenia patients and support the implementation of physical exercise interventions in this patient population to improve brain plasticity and cognitive functioning. (JINS, 2015, 21, 868–879)
To explore unilateral vocal fold paralysis patients' perception of a proposed randomised, controlled trial of laryngeal reinnervation versus thyroplasty, and to identify patients' concerns regarding their voice.
Seventeen patients from five voice clinics in London were identified as being eligible for the randomised, controlled trial. Eleven of these patients (9 females and 2 males; age range, 18–65 years) were interviewed using a semi-structured topic guide (they were given a minimum of 2 weeks to read through the study information sheet). The interviews were recorded, transcribed and analysed using thematic analysis.
The patients were satisfied with the clarity of the information sheet. Most of them perceived that reinnervation was a more ‘attractive’ option than thyroplasty. This may have been the result of certain phraseology used in the information sheet and by recruiters. Patients' main concern was reduced voice strength and the effects of this on work and social life.
Phraseology that needed changing was identified; these changes may optimise the recruitment process for a trial. We propose using the voice handicap index 10 as the primary measure of outcome in the proposed randomised, controlled trial.
The potential of chemically derived graphene as a solution-processable transparent conductive film has been explored. Synthesis of amine-functionalized graphene oxide was intended for its utilization in layer-by-layer assembly. Layer-by-layer assembly of graphene oxide was utilized to fabricate graphene based thin film in a scalable and highly reproducible way. It was found that optical transmittance and sheet resistance of the film decreases with an increase in number of LBL cycles in a reproducible way. The sheet resistance of LBL-assembled GO film improves by an order of magnitude at the same optical transparency due to more homogeneous coverage and better stacking of graphene flakes. Furthermore, we demonstrated the potential for a large-scale deposition of chemically derived graphene.
We report a novel bilateral suture lateralisation technique that allowed permanent tracheostomy decannulation in a patient with severe paradoxical vocal fold movement.
A 45-year-old woman presented to the accident and emergency department with worsening shortness of breath. Flexible nasoendoscopy revealed limited vocal fold abduction and an emergency tracheostomy was sited; this was subsequently changed to a long-term Silver Negus tube. Her tracheostomy care was complicated by discomfort and dislodgement. The diagnosis of paradoxical vocal fold movement was only made when the patient presented to our department. Cognitive behaviour therapy and botulinum toxin injection were tried without success. A right vocal fold lateralisation procedure was performed, which enabled temporary tracheostomy decannulation. A left vocal fold lateralisation procedure was subsequently performed and the patient was successfully decannulated, with significant improvement in quality of life.
Paradoxical vocal fold movement is a rare condition that is most commonly managed by biofeedback sessions, relaxation manoeuvres or botulinum toxin injection. However, in cases similar to ours in which these treatments are unsuccessful, we suggest a ‘last resort’ technique to manage this rare condition.
A room temperature scanning micro-Hall probe microscope (RT-SHPM) was used for imaging stray magnetic field fluctuations at the surfaces of strontium ferrite permanent magnets (SFM) in the presence of external bias fields. The RT-SHPM enables the extremely fast, non-invasive, and quantitative measurement of localized surface magnetic fields on the sub-micron-scale. A 0.8 × 0.8 μm2 GaAs/AlGaAs micro-Hall probe (300K Hall coefficient =0.3ω/G; field sensitivity=0.04 G/√Hz ) with an integrated STM tip for precise vertical positioning was used as a magnetic field sensor. External bias fields (Hex) of up to 2700 Oe were applied parallel to the easy and hard axes of thermally demagnetized SFMs. Sample areas of up to 50×50 μm were imaged at a height of 0.3 μm above the SFM surface for each Hex, with scan speeds of approximately one frame/second (128×128 pixels) enabling quasi-real time imaging in synchronization with bias field changes. RT-SHPM images of surfaces normal to the easy axis of demagnetized samples at Hex=0, clearly showed the presence of 8-15 μm sized domains and stray magnetic field fluctuations of ±200G; images of surfaces normal to the hard axis showed 20 μm sized domains with magnetic field fluctuations of ±100G. Pronounced domain movement and rotation was observed for surfaces normal to the easy axis at bias fields above 700 Oe applied along the easy axis. A good correlation was found between domain movement and vibrating sample magnetometer hysteresis measurements. The RT-SHPM system was demonstrated to be a valuable tool for the direct and non-invasive study of micro-magnetic phenomena in ferromagnetic materials.
Si/Ge/Si (100) structures consisting of a thin epitaxial layer of Ge (1-64 monolayers) on Si and covered with a 5 nm overlayer of epitaxial Si were grown by MBE. The layers were analyzed by Rutherford backscattering(RBS)-channeling and transmission electron microscopy (TEM). For structures containing 4 or 8 monolayers of Ge, the channeling <110> angular scans showed unusual features that could be due to imperfect steering of the ion beam in the thin Si overlayer. Cross sectional TEN showed that the Ge epitaxy was good for these Ge thicknesses, but that for an average Ge coverage of 16 monolayers, Ge hillocks up to 90 monolayers thick occurred.
We have used RBS/Channeling, perturbed angular correlation (PAC) and optical absorption to study the regrowth of disordered layers in diamond produced by implantation with carbon, or with carbon plus boron or indium ions. For C or C plus B implantation doses of 2 ×1015 cm−2 or less, complete recovery of channeling damage occurred after RTA at 1100°C or furnace annealing at 900°C. Optical measurements on samples implanted with high energy carbon ions show better recovery compared to the shallower implantations. PAC results showed that co-implantation with C and In caused a considerable fraction (∼15%) of the In-atoms to occupy well-defined lattice sites characterized by an electric field gradient having its major component along <111>, and a frequency of 116 MHz.
It has been a challenge to inject dopant atoms onto diamond lattice sites by ion implantation, because of the complications of ion damage and defect clustering during annealing. We re-investigated this topic by implanting boron ions into an insulating natural diamond ( type II-A ) which was predamaged by carbon ion implantation. Both of the implantations were performed at liquid nitrogen temperature. The amount of pre-damage was adjusted to produce enough vacancies and interstitials in diamond to promote boron substitutionality during subsequent annealing. Samples were characterized by optical absorption and electrical measurements. It was found that optical absorption of the implanted samples strongly depends on the post implant annealing sequence. The activation energies obtained from electrical measurements match very closely to those due to boron atoms in natural p-type diamonds. Photoconductivity measurements showed that the fraction of remaining electrically active radiation defects in the implanted and annealed samples depends on the relative fluences of boron and carbon.
Mathematical equations have been formulated to guide an experimental effort to produce an open-celled mesophase pitch foam. The formulation provides an analytical description of homogeneous bubble nucleation and growth, diffusion of the blowing gas through the liquid to the bubble surface, and the average material thickness between bubbles. Implications of the formulation for the experimental production of mesophase pitch foam are discussed.
The effect of sputtering conditions of Al alloy films on the ability to fill submicron contact/vias by laser planarization has been investigated. A significant improvement in the process window (complete contact filling to optical ablation) has been observed by using high temperature and/or bias sputtering. In general, the process window increased with the increasing deposition temperature and substrate bias voltage. For 0.9 μm diameter contacts of aspect ratio ∼ 1, the process window for contact filling by AlSi(l%)Cu(0.5%) increased from 5% for standard deposition parameters to a record high 30% by using the optimized sputtering conditions.
Recrystallization of amorphous silicon has been investigated using conventional furnace annealing, incoherent light-based rapid thermal annealing (RTA) and pulsed laser annealing using excimner laser (wavelength=248 nm, energy density = 0.1−0.6 J/cm2) at a pulse width of approximately 20 nanoseconds. The effects of annealing methods are characterized for grain growth and crystallized orientation using transmission electron microscopy (TEM) and X-ray diffraction analysis. The various recrystallization methods are compared based on the structural properties of the resulting film and optimized thermal budgets for each heating mechanism are discussed.
To meet increasingly challenging and complex systems requirements, it is not enough to use one single semiconductor technology but to integrate several high performance technologies in an efficient and cost effective way. Heterogeneous integration (HI) approaches lead to a significant higher design flexibility and performance. In this paper we present some of the HI approaches that are being used and developed at Northrop Grumman Space Technology (NGST) that include selective epitaxial growth, metamorphic growth and wafer level packaging (WLP) technology. More recently we are developing a scaled and selective wafer packaging technique to integrate III-V semiconductors with silicon under the COSMOS DARPA program.
One of the largest reported campylobacteriosis outbreaks in Canada occurred in June 2007 in British Columbia, associated with a mountain bike race that took place in muddy conditions. A retrospective cohort study was conducted and environmental samples were collected and tested. There were 537 racers included in the study and 225 racers (42%) reported diarrhoeal illness after the race. C. jejuni clinical isolates (n=14) were found to be identical by multi-locus sequence typing. Although univariate analysis suggested water consumption and mud exposure as significant risk factors, multivariate analysis revealed that on direct ingestion mud was significantly associated with illness (OR 4·08, 95% CI 2·03–8·21). Contaminated mud was thus the most likely source of Campylobacter infection. We identified other unpublished reports of outbreaks associated with bike races in rainy or muddy conditions; these underscore the importance of educating racers and raising public awareness of the risks of mud ingestion.