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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.
Integration of biomarker data with information on health and lifestyle provides a powerful tool to enhance the scientific value of health research. Existing health and demographic surveillance systems (HDSSs) present an opportunity to create novel biodata resources for this purpose, but data and biological sample collection often presents challenges. We outline some of the challenges in developing these resources and present the outcomes of a biomarker feasibility study embedded within the South East Asia Community Observatory (SEACO) HDSS.
We assessed study-related records to determine the pace of data collection, response from potential participants, and feedback following data and sample collection. Overall and stratified measures of data and sample availability were summarised. Crude prevalence of key risk factors was examined.
Approximately half (49.5%) of invited individuals consented to participate in this study, for a final sample size of 203 (161 adults and 42 children). Women were more likely to consent to participate compared with men, whereas children, young adults and individuals of Malay ethnicity were less likely to consent compared with older individuals or those of any other ethnicity. At least one biological sample (blood from all participants – finger-prick and venous [for serum, plasma and whole blood samples], hair or urine for adults only) was successfully collected from all participants, with blood test data available from over 90% of individuals. Among adults, urine samples were most commonly collected (97.5%), followed by any blood samples (91.9%) and hair samples (83.2%). Cardiometabolic risk factor burden was high (prevalence of elevated HbA1c among adults: 23.8%; of elevated triglycerides among adults: 38.1%; of elevated total cholesterol among children: 19.5%).
In this study, we show that it is feasible to create biodata resources using existing HDSS frameworks, and identify a potentially high burden of cardiometabolic risk factors that requires further evaluation in this population.
Bovine calf scours reported to be caused by multiple aetiologies resulting in heavy mortality in unweaned calves and huge economic loss to the dairy farmers. Among these, cryptosporidiosis is an emerging waterborne zoonoses and one of the important causes of neonatal calf diarrhoea. Poor immune response coupled with primary cryptosporidial infections predispose neonatal calves to multiple secondary infections resulting in their deaths. In the present study, faecal samples from 100 diarrhoeic calves randomly picked up out of 17 outbreaks of bovine calf diarrhoea in periurban Ludhiana, Punjab in Northern India were subjected to conventional (microscopy, modified Zeihl–Neelsen (mZN) staining) and immunological and molecular techniques (faecal antigen capture ELISA and PCR) for detection of primary Cryptosporidium parvum infection as well as other frequently reported concurrent pathogens, viz. rotavirus and coronavirus, Salmonella spp., Escherichia coli, Clostridium perfringens and Eimeria spp. The faecal antigen capture ELISA and PCR revealed 35% prevalence of C. parvum in contrast to 25% by mZN staining with a relatively higher prevalence (66·7%) in younger (8–14-day-old) calves. The detection rate of the other enteropathogens associated with C. parvum was 45·71% for C. perfringens followed by Salmonella spp (40·0%), rotavirus (36·0%), coronavirus (16·0%), E. coli (12·0%) and Eimeria spp (4·0%) The sensitivity for detection of C. parvum by ELISA and mZN staining in comparison to PCR was 97·14% and 72·72%, respectively. An important finding of the study was that C. parvum alone was found in only 10% of the diarrhoeic faecal samples, whereas, majority of the samples (90%) showed mixed infections ranging from a combination of two to five agents. This is the first documentary proof of C. parvum and associated pathogens responsible for severe periurban outbreaks of bovine calf diarrhoea culminating in heavy mortality from Northern India.
Epstein Barr virus (EBV) infects 95% of the global population and is associated with up to 2% of cancers globally. Immunoglobulin G (IgG) antibody levels to EBV have been shown to be heritable and associated with developing malignancies. We, therefore, performed a pilot genome-wide association analysis of anti-EBV IgG traits in an African population, using a combined approach including array genotyping, whole-genome sequencing and imputation to a panel with African sequence data. In 1562 Ugandans, we identify a variant in human leukocyte antigen (HLA)-DQA1, rs9272371 (p = 2.6 × 10−17) associated with anti-EBV nuclear antigen-1 responses. Trans-ancestry meta-analysis and fine-mapping with European-ancestry individuals suggest the presence of distinct HLA class II variants driving associations in Uganda. In addition, we identify four putative, novel, very rare African-specific loci with preliminary evidence for association with anti-viral capsid antigen IgG responses which will require replication for validation. These findings reinforce the need for the expansion of such studies in African populations with relevant datasets to capture genetic diversity.
Antimicrobial resistance (AMR) is a global public health threat. Emergence of AMR occurs naturally, but can also be selected for by antimicrobial exposure in clinical and veterinary medicine. Despite growing worldwide attention to AMR, there are substantial limitations in our understanding of the burden, distribution and determinants of AMR at the population level. We highlight the importance of population-based approaches to assess the association between antimicrobial use and AMR in humans and animals. Such approaches are needed to improve our understanding of the development and spread of AMR in order to inform strategies for the prevention, detection and management of AMR, and to support the sustainable use of antimicrobials in healthcare.
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.
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.
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.
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.
Two generalist parasitoids, Dolichogenidea tasmanica (Cameron) (Hymenoptera: Braconidae) and Therophilus unimaculatus (Turner) (Hymenoptera: Braconidae) attack early instars of tortricid moths, including the light brown apple moth, Epiphyas postvittana (Walker) (Lepidoptera: Tortricidae). The two parasitoids co-exist in natural habitats, while D. tasmanica is dominant in vineyards, whereas T. unimaculatus occurs mainly in adjacent native vegetation. This difference suggests possible competition between the two species, mediated by habitat. Here, we report on the extent of interspecific differences in host discrimination and the outcome of interspecific competition between the two parasitoids. The parasitoids did not show different behavioural responses to un-parasitized hosts or those that were parasitized by the other species. Larvae of D. tasmanica out-competed those of T. unimaculatus, irrespective of the order or interval between attacks by the two species. The host larvae that were attacked by two parasitoids died more frequently before a parasitoid completed its larval development than those that were attacked by a single parasitoid. Dissection of host larvae parasitized by both species indicated that first instars of D. tasmanica attacked and killed larval T. unimaculatus.
This study determined the prevalence of the eaeA gene and its relationship to serotype and type of verotoxin produced in a collection of 432 verotoxigenic Escherichia coli (VTEC) obtained from the faeces of healthy cows and calves in a systematic random survey involving 80 dairy farms in Southwest Ontario. A PCR amplification procedure involving primer pairs which target the conserved central region of the O157:H7 eaeA. gene showed that 151 (35·2%) strains were positive for the eaeA gene. All isolates (9–21 for each O group) of O groups 5, 26, 69, 84, 103, 111, 145 and 157 were positive, whereas all isolates (7–34 for each O group) of O groups 113, 132, and 153 and serotype O156:NM (38 isolates) were negative for eaeA. Seventy-three percent of 130 isolates of eaeA-positive serotypes produced VT1 only compared with 20% of 253 isolates of eaeA-negative serotypes. We conclude that there is a strong association between certain O groups and the eaeA gene, that serotypes of eaeA-positive and eaeA-negative VTEC implicated in human and cattle disease are present at high frequency in the faeces of healthy cattle, that VT1 is more frequently associated with eaeA-positive than with eaeA-negative serogroups, and that the eaeA gene is more frequently found in VTEC from calves compared with VTEC from adult cattle.
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.
To review the presentation, risk factors and management of paroxysmal laryngospasm.
Retrospective review of cases.
A teaching hospital otolaryngology department with a subspecialty interest in airway disorders.
All patients diagnosed with laryngospasm over a two-year period were reviewed. Information was obtained about disease presentation, risk factors, management and symptom resolution.
Laryngospasm was diagnosed in nine women and six men. The average age at presentation was 56±6.5 years, and there was an 80 per cent association with gastroesophageal reflux disease. Proton pump inhibitors led to complete symptom resolution in six patients and to partial symptomatic relief, requiring no further treatment, in a further four patients. Of the remaining five patients unresponsive to proton pump inhibitor therapy, two continued to experience syncopal episodes due to laryngospasm. Both these patients achieved complete remission after laryngeal botulinum toxin injection. Symptoms recurred after three to four months and were successfully treated with a repeat injection.
The primary risk factor for spontaneous laryngospasm is laryngopharyngeal reflux. Symptoms are distressing and may be relieved in most cases by treatment aimed at suppressing gastric acid secretion. Laryngeal botulinum toxin injection appears to be a viable treatment modality in selected patients with refractory symptoms.
Whitehead's varnish is a little known but excellent nasal packing agent. We review available literature on the historical aspects and clinical use of Whitehead's varnish. Our personal experience with Whitehead's varnish is described, and we strongly recommend its use.
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.