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Diagnosing inborn errors of metabolism (IEMs) and particularly those complicated by movement disorders means working in a fascinating and overlapping area between neurology, child neurology, metabolic disease, and genetics. At this crossroad between different medical specialties, it is not uncommon that patients enter a long diagnostic journey. Patients can present to a movement disorder specialist, a metabolic specialist, or a clinical geneticist. It is interesting to note that the approach to a diagnosis can be quite different in any of these medical specialties. Neurologists and clinical geneticists often find it difficult to start their diagnostic process in a patient with a suspected IEM with biochemical or enzymatic testing as they are more familiar with molecular testing. On the other hand, specialists for IEMs will often consider biochemical testing their usual starting point to diagnose an IEM.
Background: Catheter-associated urinary tract infections (CAUTIs) have gained popularity in recent years for increasing morbidity and mortality in multiple healthcare settings. In fact, they are the most common type of healthcare-associated infection (HAI) in US hospitals, and they account for ~35% of HAIs. Objectives: At our institution, CAUTI rates were higher than the national average; therefore, various preventative protocols were implemented. Southeast Health’s Medical ICU (MICU) has taken many measures to decrease the CAUTI incidence. Methods: We conducted an observational study with a retrospective analysis of the data beginning in 2014 after a poor performance at prevention of CAUTIs as noted in the Leapfrog Hospital Survey. As part of improving prevention measures in MICU, we started a lean project in 2015 that primarily focused on systems-based practices and improvements in the existing nurse protocols. Results: We were successful in this endeavor and in August 2018 the Alabama Department of Public Health (ADPH) reported that we still lower than the national average in prevention of CAUTIs. This finding led us to tighten the protocols and to appoint 2 infection preventionists in the MICU. With the assistance of the infection preventionists, we were able to actively decrease indwelling catheter and device days with daily multidisciplinary rounds to access the necessity for catheter use. We also set monthly attainable targets and reinforced nurse driven protocols with educational in-service programs. One of the most significant additions was the introduction of female external catheters (Purewick) in December 2019 and male external catheters (Liberty) in May, 2019. Our results showed a significant reduction in the number of CAUTIs divided by number of Foley catheter days in the MICU from 32 of 7,435 in 2014 to 1 of 5,934 in 2019. We are excited to see reduction in the CAUTIs with our above measures. We will continue our measures to reach our target of 0 CAUTIs, and we plan to remain above the national average.
Myoclonus is a hyperkinetic movement disorder defined as a sudden, brief, involuntary jerk of a muscle or a muscle group. Myoclonus can be caused by muscle contraction (positive myoclonus) or by loss of muscle contraction (negative myoclonus). The prevalence of myoclonus is largely unknown. Symptoms are not always severe enough to attract medical attention and signs of myoclonus can be hard to recognize.
Historically, childhood-onset, isolated, generalized, and inherited forms of dystonia (such as DYT1 dystonia) and adult-onset, isolated, focal, mainly idiopathic dystonias have been emphasized. There is, however, growing awareness of neurometabolic disorders being etiological for both childhood-onset and adult-onset dystonia. The dystonia syndromes associated with inborn errors of metabolism (IEMs) usually have an early and (sub-) acute onset, progressive course, and generalized distribution . In general, patients with an IEM do not present with isolated dystonia, but have additional neurological and non-neurological symptoms. This combined or mixed presentation of dystonia and other symptoms may suggest an IEM as the underlying cause. Recognition of dystonia as a clinical feature of a given IEM is essential for diagnostic and targeted treatment strategies, because IEMs include a group of treatable disorders. In addition, symptomatic treatment of dystonia is important as movement disorders negatively impact on the quality of life and daily functioning in patients with an IEM .
Surgical antimicrobial prophylaxis (SAP) is commonly administered in orthopedic procedures. Research regarding SAP appropriateness for specific orthopedic procedures is limited and is required to facilitate targeted orthopedic prescriber behavior change.
To describe SAP prescribing and appropriateness for orthopedic procedures in Australian hospitals.
Design, setting, and participants:
Multicenter, national, quality improvement study with retrospective analysis of data collected from Australian hospitals via Surgical National Antimicrobial Prescribing Survey (Surgical NAPS) audits from January 1, 2016, to April 15, 2019, were analyzed.
Logistic regression identified hospital, patient and surgical factors associated with appropriateness. Adjusted appropriateness was calculated from the multivariable model. Additional subanalyses were conducted on smaller subsets to calculate the adjusted appropriateness for specific orthopedic procedures.
In total, 140 facilities contributed to orthopedic audits in the Surgical NAPS, including 4,032 orthopedic surgical episodes and 6,709 prescribed doses. Overall appropriateness was low, 58.0% (n = 3,894). This differed for prescribed procedural (n = 3,978, 64.7%) and postprocedural doses (n = 2,731, 48.3%). The most common reasons for inappropriateness, when prophylaxis was required, was timing for procedural doses (50.9%) and duration for postprocedural prescriptions (49.8%). The adjusted appropriateness of each orthopedic procedure group was low for procedural SAP (knee surgery, 54.1% to total knee joint replacement, 74.1%). The adjusted appropriateness for postprocedural prescription was also low (from hand surgery, 40.7%, to closed reduction fractures, 68.7%).
Orthopedic surgical specialties demonstrated differences across procedural and postprocedural appropriateness. The metric of appropriateness identifies targets for quality improvement and is meaningful for clinicians. Targeted quality improvement projects for orthopedic specialties need to be developed to support optimization of antimicrobial use.
Several authors have questioned the suitability of WHO Child Growth Standards (WHO-CGS) for all ethnic groups. The aim of this study was to identify potential misclassification of stunting, underweight and wasting in children of Surinamese Asian Indian, South Asian (Pakistan/India) and Dutch descent.
A series of routine cross-sectional measurements, collected 2012–2015. South Asian-specific normative growth references for weight-for-age and weight-for-length/height were constructed using the LMS method based on historic growth data of Surinamese Asian Indians born between 1974 and 1976. WHO-CGS and ethnic-specific references were applied to calculate z-scores and prevalence of stunting, underweight and wasting.
Youth HealthCare, providing periodical preventive health check-ups.
11 935 children aged 0–5 years.
Considerable deviations from WHO-CGS were found, with higher-than-expected stunting rates, especially in the first 6 months of life. Surinamese Asian Indian children showed stunting rates up to 16·0 % and high underweight and wasting over the whole age range (up to 7·2 and 6·7 %, respectively). Dutch children consistently had mean WHO-CGS z-scores 0·3–0·5 sd above the WHO baseline (>6 months). The application of ethnic-specific references showed low rates for all studied indicators, although South Asian children were taller and larger than their Surinamese Asian Indian counterparts.
WHO-CGS misclassify a considerable proportion of children from all ethnic groups as stunted in the first 6 months of life. Underweight and wasting are considerably overestimated in Surinamese Asian Indian children. Ethnic-specific growth references are recommended for Surinamese Asian Indian and Dutch children. The considerable differences found between South Asian subpopulations requires further research.
Frequent use of cannabis has been associated with poor outcome in patients with psychosis or schizophrenia, and research has become more and more interested in the question whether cannabis may actually cause psychosis or schizophrenia. Since only a minority of cannabis users eventually develops psychosis or schizophrenia, cannabis is suggested to be a component cause, potentially interacting with environmental as well as genetic factors. However, little is known about this putative interaction. Recent research in our group has therefore focused on differential sensitivity to cannabis and its psychosis-inducing effects. Experimental and observational work for instance showed that a functional polymorphism within the COMT gene moderates the acute effects of cannabis on psychosis outcome. In this presentation new evidence from epidemiological work is presented, showing gene-environment interactions within the cannabis-psychosis association. These results point to a moderating role for both age of onset of cannabis use and childhood trauma. Also a certain haplotype within the COMT gene was found to increase the risk of developing schizophrenia after adolescent cannabis use. Complex gene-environment interactions as well as interactions between cannabis and other environmental risk factors seem to underlie the cannabis-psychosis relationship. Possible biological mechanisms such as sensitization processes that may underlie these interactions will be discussed.
Cognitive alterations are a central and heterogeneous trait in psychotic disorders, driven by environmental, familial and illness-related factors. In this study, we aimed to prospectively investigate the impact of high familial risk for cognitive alterations, unconfounded by illness-related factors, on symptomatic outcomes in patients.
In total, 629 probands with non-affective psychosis and their sibling not affected by psychosis were assessed at baseline, 3- and 6-year follow-up. Familial cognitive risk was modeled by three cognitive subtypes (‘normal’, ‘mixed’ and ‘impaired’) in the unaffected siblings. Generalized linear mixed models assessed multi-cross-sectional associations between the sibling cognitive subtype and repeated measures of proband symptoms across all assessments. Between-group differences over time were assessed by adding an interaction effect of time and sibling cognitive subtype.
Probands affected by psychosis with a sibling of the impaired cognitive subtype were less likely to be in symptomatic remission and showed more disorganization across all time points. When assessing differences over time, probands of siblings with the impaired cognitive subtype showed less remission and less improvement of disorganization after 3 and 6 years relative to the other subtypes. They also showed less reduction of positive, negative and excitement symptoms at 6-year follow-up compared to probands with a sibling of the normal cognitive subtype.
Cross-sibling pathways from higher levels of familial cognitive vulnerability to worse long-term outcomes may be informative in identifying cognition-related environmental and genetic risks that impact psychotic illness heterogeneity over time.
Visualizing biological structures and cellular processes in their native state is a major goal of many scientific laboratories. In the past 20 years, the technique of preserving samples by vitrification has greatly expanded, specifically for use in cryogenic electron microscopy (cryo-EM). Here, we report on improvements in the design and use of a portable manual cryogenic plunge freezer that is intended for use in laboratories that are not equipped for the cryopreservation of samples. The construction of the instrument is economical, can be produced by a local machine shop without specialized equipment, and lowers the entry barriers for newcomers with a reliable alternative to costly commercial equipment. The improved design allows for successful freezing of isolated proteins for single particle analysis as well as bacterial cells for cryo-electron tomography. With this instrument, groups will be able to prepare vitreous samples whenever and wherever necessary, which can then be imaged at local or national cryo-EM facilities.
Guinea fowl production is increasing in developing countries and has a crucial role in the fight against poverty. However, the feed cost is very high, especially the soya bean meal cost, and farmers cannot afford to buy commercial feed. Consequently, animals do not receive feed adapted to their nutritional needs and they exhibit poor performance. The aim of this paper is to partially substitute soya bean meal by local by-products, discarded, in abundant supply and not used in human nutrition. French Galor guinea fowl (Numida meleagris) and local African guinea fowl (150 birds per breed) were reared for 16 weeks and fed the same starter diet for the initial 4 weeks. From 4 weeks of age, experimental birds from each breed were randomly assigned to three grower isoproteic and isolipidic dietary treatments, each containing five replications (floor pens); each replication included 10 birds of the same breed. The guinea fowl of each breed were fed either control grower diet using soya bean meal as the protein supplement GS, or trial grower diet GN (soya bean meal supplement partially substituted by 15% cashew nut (Anacardium occidentale) meal) or trial grower diet GH (soya bean meal supplement partially substituted by 15% hevea seed (Hevea brasiliensis) meal). The results indicated that hevea seed meal contained a high content of n-3 polyunsaturated fatty acids (PUFAs) (21.2% of total fatty acids (FAs)). The use of hevea seed meal in guinea fowl grower diet was found to exert no adverse effect on growth performance and carcass yield. However, the use of cashew nut meal led to negative effects on performance like daily weight gain and feed conversion ratio. Therefore, cashew nut meal cannot be considered as a suitable partial substitute for soya bean meal in diets. The use of hevea seed meal led to a very low abdominal fat proportion and low blood triglyceride and cholesterol content. Additionally, inclusion of dietary hevea seed meal resulted in guinea fowl meat enriched in PUFAs, especially n-3 FAs, thereby significantly improving the nutritional value.
The blue shark Prionace glauca is the most abundant species in the artisanal driftnet fishery off the coastal waters of Ivory Coast. The reproductive parameters were investigated with the aim of providing basic information on the reproductive biology for fisheries management. A total of 424 specimens (256 males and 168 females) ranging from 170–330 cm in total length (TL) were sampled between August 2014 and November 2016. Sample for embryonic sex ratio was obtained from 18 litters of 503 individuals (255 males and 248 females). The embryonic sex ratio was not significantly different from 1:1 (χ2 = 0.10, P > 0.05, N = 503). The size at 50% maturity (L50) was 218.1 cm TL for males and 223.3 cm TL for females. The litter size based on the number of embryos varied from 6 to 62, with an average of 30 embryos. Mating started in July whereas ovulation, fertilization and uterine eggs occurred in late October–November. Smallest embryos of 3–5 cm in stretch total length (STL) appeared in uterus from November to January. The embryo size varied widely among months, and well-pigmented embryos were already present in April–May samples, although most of them occurred in August–September, suggesting a gestation period of around 11 months. The absence of neonates in catches, as well as parturition females, does not support a hypothesis that parturition takes place in the Gulf of Guinea.
Research to document Aboriginal occupation across the Dampier Archipelago has also encountered the earliest archaeological evidence for the presence of American whalers in North West Australia. Inscriptions in the form of rock engravings made by the crews of the whaling ships Connecticut (1842) and Delta (1849) have been discovered on Rosemary and West Lewis Islands. These maritime inscriptions are uniquely superimposed over earlier Indigenous rock art motifs, appearing to represent distinct mark-making practices by the whalers on encountering an already-inscribed landscape, and thus providing insight into the earliest phases of North West Australia's colonial history.
To maintain savanna vegetation, mid-seasonal fire has been applied since 1961 in the Lamto Savanna (Côte d'Ivoire). However, this prescribed fire has not impeded tree encroachment during recent years, nor have its effects on insect assemblages been documented. Also the impact of tree intrusion on insect assemblages is poorly studied in savanna. To prevent tree density increasing, a change in fire regime might be a solution. In this study, we examined the effect of different fire regimes (early, mid-seasonal and late fires) on leaf-litter ant assemblages in order to suggest appropriate measures for preventing tree invasion without having an effect on insect communities. Sampling was implemented by combining pitfall trapping and leaf-litter sampling before and after three different fire regimes, early, mid-seasonal and late fires. While the ant species richness declined after the passage of early and mid-seasonal fires, significantly more species were found in the burnt savanna after the late fire. However, the losses or gains of species due to different fire regimes did not cause severe changes in the ant species composition. Of the functional groups identified, only the generalists and specialist predators were respectively strongly affected by the early and mid-seasonal fires, certainly due to micro-habitat modification. Based on the trends observed in the present study, we suggest sampling other invertebrate fauna in similar savanna plots to find out if other insect groups have similar reactions to the applied fire regimes.
Biomass burning has links with a number of global concerns including soil health, food security and climate change. In central Côte d'Ivoire (West Africa), we conducted a field study to compare nutrient losses, soil fertility and yam yield in slash-and-burn versus slash-and-mulch agriculture. Trials involved five sites established in the dominant Chromolaena odorata fallows of the region, each consisting of paired plots: slash and burnt biomass (SB) versus slashed and unburnt biomass, but left to serve as mulch (SM). Carbon and five elemental nutrients were assessed in the aboveground biomass prior to burning and in ash after fires; losses were assessed by subtraction. The greatest proportions of loss occurred with C (95%), N (95%) and K (74%), corresponding to losses into the atmosphere of 3532 ± 408, 200 ± 36, 132 ± 36 kg ha−1. Six weeks after the fire, soil properties were assessed: soil organic C, total N and Mg2+ were higher in SM than in SB sites. At final harvest, yam tuber yield was twice as large in SM as in SB (18 ± 4 vs. 9 ± 2 Mg ha−1) with soil C, total N and K+ as the main influential soil parameters. The key finding was that the elements lost in greatest proportion during burning were those mostly influencing yam yields. Because a clear negative relationship between biomass burning and yam production has been established the promotion of the more productive, alternate slash-and-mulch system compared to slash-and-burn system, is warranted. The findings of our research can be used in support of developing a sustainable yam production system in the region and in West Africa more generally.