bluuebunny/crossref_metadata_2025 huggingface dataset:
Évolution historique et tendancielle de l’EROI du pétrole et du gaz
Authors: Delannoy Louis , Aramendia Emmanuel , Longaretti Pierre-Yves , Prados Emmanuel
Published: November 2023

Au fur et à mesure de leur exploitation, les combustibles fossiles deviennent plus difficiles d’accès et nécessitent plus d’énergie pour être extraits. La baisse continue de l’EROI du pétrole et du gaz semble dès lors préoccupante, étant donné que ces deux sources d’énergie représentent encore 52 % de la consommation énergétique globale. Toutefois, ces ratios sont mesurés au stade de l’énergie primaire et devraient plutôt être estimés au stade final ou utile, où l’énergie est au plus proche de la réalité des processus économiques. En suivant ce principe, les EROI des combustibles fossiles sont déjà aujourd’hui comparables voire inférieurs à ceux des énergies renouvelables, y compris lorsque des technologies de stockages d’énergie de court terme sont intégrées au calcul. Ce résultat fait partie du consensus émergent de la communauté scientifique d’analyse énergétique nette, mais sa dissémination se heurte aux fréquents malentendus sur l’EROI hérités de l’absence de méthodologie formelle avant les années 2010. Pour remédier à cette situation, nous résumons les diverses étapes ayant mené à l’aboutissement de ce consensus émergent, présentons l’EROI du pétrole et du gaz au stade primaire, final et utile de 1971 à 2019, et discutons les implications vis-à-vis de la transition bas-carbone.
Projets d’exploitation de lithium en France et en Allemagne… des convergences possibles ou une compétition effrénée ?
Authors: Liger Alain
Published: November 2023

Le lithium fait l’objet d’une forte demande au niveau mondial, sous la pression du développement de l’usage des batteries rechargeables ; il est classé métal stratégique par l’Europe, qui est totalement dépendante de producteurs extérieurs au continent. L’examen de projets d’extraction de lithium en France et en Allemagne montre un fort investissement industriel sur cet enjeu minier majeur dont le sort reste cependant dépendant de la poursuite des études, de l’acceptation des projets par les populations locales et des autorisations exigées par le droit minier de chaque pays.
Die Entstellung – la déformation/défiguration
Authors: Hock Udo
Published: November 2023

L’auteur reconstruit d’abord sa découverte de la déformation/défiguration (Entstellung) comme concept central à partir de la théorie freudienne de la remémoration. Depuis le début jusqu’à la fin, Freud s’est intéressé expressément à la mémoire défaillante et lacunaire, autrement dit aux souvenirs déformés. Partant de ce constat, l’auteur arrive à la conclusion que la déformation/défiguration est un point nodal tant pour la conceptualisation métapsychologique que pour la technique psychanalytique. Dans ce concept s’entrecroisent, mais aussi convergent les différents niveaux élémentaires de la psychanalyse : la clinique, la théorie et la technique.
On the extremal cacti with minimum Sombor index
Authors: Geng Qiaozhi , He Shengjie , Hao Rong-Xia
Published: November 2023

Let $ H $ be a graph with edge set $ E_H $. The Sombor index and the reduced Sombor index of a graph $ H $ are defined as $ SO(H) = \sum\limits_{uv\in E_H}\sqrt{d_{H}(u)^{2}+d_{H}(v)^{2}} $ and $ SO_{red}(H) = \sum\limits_{uv\in E_H}\sqrt{(d_{H}(u)-1)^{2}+(d_{H}(v)-1)^{2}} $, respectively. Where $ d_{H}(u) $ and $ d_{H}(v) $ are the degrees of the vertices $ u $ and $ v $ in $ H $, respectively. A cactus is a connected graph in which any two cycles have at most one common vertex. Let $ \mathcal{C}(n, k) $ be the class of cacti of order $ n $ with $ k $ cycles. In this paper, the lower bound for the Sombor index of the cacti in $ \mathcal{C}(n, k) $ is obtained and the corresponding extremal cacti are characterized when $ n\geq 4k-2 $ and $ k\geq 2 $. Moreover, the lower bound of the reduced Sombor index of cacti is obtained by similar approach.
MOJMA: A novel multi-objective optimization algorithm based Java Macaque Behavior Model
Authors: Karunanidy Dinesh , Ramalingam Rajakumar , Basheer Shakila , Mahadevan Nandhini , Rashid Mamoon
Published: November 2023

We introduce the Multi-objective Java Macaque Algorithm for tackling complex multi-objective optimization (MOP) problems. Inspired by the natural behavior of Java Macaque monkeys, the algorithm employs a unique selection strategy based on social hierarchy, with multiple search agents organized into multi-group populations. It includes male replacement strategies and a learning process to balance intensification and diversification. Multiple decision-making parameters manage trade-offs between potential solutions. Experimental results on real-time MOP problems, including discrete and continuous optimization, demonstrate the algorithm's effectiveness with a 0.9% convergence rate, outperforming the MEDA/D algorithm's 0.98%. This novel approach shows promise for addressing MOP complexities in practical applications.
Identification of membrane protein types via deep residual hypergraph neural network
Authors: Shen Jiyun , Xia Yiyi , Lu Yiming , Lu Weizhong , Qian Meiling , Wu Hongjie , Fu Qiming , Chen Jing
Published: November 2023

A membrane protein's functions are significantly associated with its type, so it is crucial to identify the types of membrane proteins. Conventional computational methods for identifying the species of membrane proteins tend to ignore two issues: High-order correlation among membrane proteins and the scenarios of multi-modal representations of membrane proteins, which leads to information loss. To tackle those two issues, we proposed a deep residual hypergraph neural network (DRHGNN), which enhances the hypergraph neural network (HGNN) with initial residual and identity mapping in this paper. We carried out extensive experiments on four benchmark datasets of membrane proteins. In the meantime, we compared the DRHGNN with recently developed advanced methods. Experimental results showed the better performance of DRHGNN on the membrane protein classification task on four datasets. Experiments also showed that DRHGNN can handle the over-smoothing issue with the increase of the number of model layers compared with HGNN. The code is available at https://github.com/yunfighting/Identification-of-Membrane-Protein-Types-via-deep-residual-hypergraph-neural-network.
Climbing Mont Blanc (4808 m a.s.l.): What Are the Risks in the Grand Couloir Du Goûter and On the North Face of Mont Blanc Du Tacul?
Authors: Ravanel Ludovic , Mourey Jacques , Tamian Lorig , Ibanez Sébastien , Hantz Didier , Lacroix Pascal , Duvillard Pierre-Allain
Published: November 2023

Mountaineering is a sport highly dependent on the conditions of the physical environments in which it takes place. As a result, mountaineers have to deal with major glacial and periglacial hazards, such as those affecting the two main routes used to climb Mont Blanc (4808 m a.s.l.; Western European Alps): rockfalls in the Grand Couloir du Goûter on the Voie Royale and serac falls on the NNW slope of Mont Blanc du Tacul on the Trois Monts route. Hazards in these two sectors and the number of climbers were measured using a multi-sensor system and automatic photographic acquisition, respectively. On the first site, which has a very high accident rate with an average of 3.7 deaths per year, 17,768 passages were recorded during the summer of 2019 and 2,648 seismic signals were classified as rockfalls affecting the Grand Couloir. The average risk of death associated with these rockfalls, the frequency of which depends on temperatures and the presence of liquid water in the ground, is estimated at 1.7 × 10-4. At Tacul, where an average of 0.6 deaths occur each year, 6,770 passages were recorded during the summer of 2017, as well as 31 serac falls unrelated to temperatures. The risk of death is 8.3 × 10-5. The risk is also quantified for each track made on the glacier. The results obtained makes it possible to specify the risks experienced by climbers and to promote risk reduction strategies.
Turner’s 1836 Alpine Crossing and the Little Ice Age Portrayed in Val Veny and Val Ferret; a Geography of the Sublime
Authors: Kirkbride Martin P. , Mains Susan P. , Brazier Vanessa
Published: November 2023

The English artist J.M.W. Turner made his second visit to upper Val d’Aosta in 1836, after which he produced several significant paintings. Here, we accurately locate two of these works and relate them to the climatic and geomorphological environment of the time. We combine critical geomorphological and cultural geographic analyses to derive a more holistic appraisal of Turner’s artistic motivations and methods in his Alpine works. The first is a watercolour of Mont Rouge de Peuterey from across the Glacier du Miage. The second is a major oil painting re-imagining of the 1717 Triolet disaster which conflates the complex geomorphological processes of this rock-ice avalanche and subsequent outburst flood into a single dramatic scene. Turner’s visit coincided with the mid-nineteenth century maximum advance of glaciers in the region allowing him to witness dynamic geomorphological processes in close proximity. The precise viewpoints of these scenes demonstrate that Turner spent some time in the area to seek out preferred locations and that he was aware of considerable details of local history. The paintings speak of an immersion in the environment of the time, and their study yields fruitful insights into the complex relationships between geography and landscape art.
La traversée alpine de Turner en 1836 et le petit âge glaciaire dépeints dans le Val Veny et le Val Ferret (massif du Mont-Blanc)
Authors: Kirkbride Martin P. , Mains Susan P. , Brazier Vanessa
Published: November 2023

L’artiste anglais J.M.W. Turner (1775-1851) a réalisé sa deuxième visite dans le haut Val d’Aoste en 1836. Elle lui inspira plusieurs tableaux importants. Ici, nous localisons avec précision deux de ces œuvres et les relions à l’environnement climatique et géomorphologique de l’époque. Nous combinons des analyses géomorphologiques et géographiques culturelles pour proposer une évaluation plus holistique des motivations artistiques et des méthodes de Turner dans ses œuvres alpines. La première œuvre est une aquarelle présentant le mont Rouge de Peuterey (2941 m) à proximité du glacier du Miage (Val Veny). La seconde est une peinture à l’huile majeure interprétant la catastrophe du Triolet (3870 m) de 1717 (Val Ferret). Pour cette dernière, l’artiste a combiné en une seule scène dramatique les processus géomorphologiques complexes que sont une avalanche rocheuse impliquant également de la glace et l’inondation qui a suivi. La visite de Turner dans la région a coïncidé avec l’avancée maximale des glaciers au milieu du xixe siècle, ce qui lui a permis d’être confronté à des processus géomorphologiques d’ampleur. Les points de vue précis de ces deux scènes, déterminés ici pour la première fois, montrent que Turner a passé un certain temps dans la région pour rechercher les endroits les plus favorables et qu’il connaissait certains éléments importants de l’histoire locale. Les peintures font état d’une immersion dans l’environnement de l’époque, et leur étude donne un aperçu fructueux des relations complexes qui existent entre la géographie et l’art du paysage en montagne.
Utilisation des températures de forage pour le transfert de connaissances sur le permafrost (pergélisol) de montagne : L’exemple de la série temporelle de 35 ans à Murtèl-Corvatsch (Alpes suisses)
Authors: Haeberli Wilfried , Noetzli Jeannette , Mühll Daniel Vonder
Published: November 2023

Le permafrost (pergélisol) lié au climat est très répandu dans les montagnes froides et affecte fortement la stabilité des pentes. Cependant, en tant que phénomène de subsurface, il est encore souvent absent de la perception des partenaires clés en ce qui concerne la discussion et l’anticipation des impacts à long terme sur les régions de haute montagne d’un réchauffement climatique continu. La sensibilisation et le transfert de connaissances jouent donc un rôle essentiel. Les observations à long terme des températures du permafrost mesurées dans des forages peuvent être utilisées pour transmettre des réponses et des messages clés concernant les conditions thermiques dans un contexte spatio-temporel, les aspects environnementaux connexes, les gammes de profondeurs affectées et les impacts du réchauffement et de la dégradation sur la stabilité des pentes. La série temporelle de 35 ans de Murtèl-Corvatsch sur les températures de forage, dont les données sont disponibles depuis 1987, est utilisée ici à titre d’exemple. Aujourd’hui, le permafrost de montagne est bien documenté et bien compris en ce qui concerne les processus impliqués, ainsi que sa présence dans l’espace et son évolution dans le temps. Les anomalies thermiques causées par le réchauffement climatique atteignent déjà aujourd’hui une profondeur d’environ 100 mètres, réduisant ainsi la teneur en glace du sol, provoquant un fluage accéléré des éboulis/débris gelés riches en glace des « glaciers rocheux » et réduisant la stabilité des grandes masses rocheuses gelées sur les faces et les pics glacés escarpés.
Using Borehole Temperatures for Knowledge Transfer about Mountain Permafrost: The Example of the 35-year Time Series at Murtèl-Corvatsch (Swiss Alps)
Authors: Haeberli Wilfried , Noetzli Jeannette , Mühll Daniel Vonder
Published: November 2023

Climate-related permafrost is widespread in cold mountains and heavily affects slope stability. As a subsurface phenomenon, however, it is often still absent in the perception of key partners concerning the discussion and anticipation of long-term impacts on high mountain regions from continued global warming. Outreach and knowledge transfer, therefore, play a key role. Long-term observations of permafrost temperatures measured in boreholes can be used to convey answers and key messages concerning thermal conditions in a spatio-temporal context, related environmental conditions, affected depth ranges, and impacts of warming and degradation on slope stability.The 35-year Murtèl-Corvatsch time series of borehole temperatures from which data is available since 1987, is used here as an example. Today, mountain permafrost is well documented and understood regarding involved processes, as well as its occurrence in space and evolution in time. Thermal anomalies caused by global warming already now reach about 100 meters depth, thereby reducing the ground ice content, causing accelerated creep of ice-rich frozen talus/debris (so-called “rock glaciers”) and reducing the stability of large frozen bedrock masses at steep icy faces and peaks.
Transferring Cryosphere Knowledge between Mountains Globally: A Case Study of Western Canadian Mountains, the European Alps and the Scandes
Authors: Stewart-Jones Emilie , Gruber Stephan
Published: November 2023

Permafrost is present in mountains globally, yet most research has been focussed in the small area covered by the European Alps. This paper presents a method for comparing regional climates at a coarse scale to highlight similarities and differences between the European Alps and the Scandes to western Canadian mountain regions with permafrost. Climate variables from the ERA5 reanalysis relevant to mountain permafrost are averaged over the 1986–2005 period and compared. This helps to understand where permafrost conditions can be compared and where new research is needed. In this application, we conclude that a direct transfer of knowledge about ground temperature regimes and spatial patterns from the Scandes and Alps to western Canada is inappropriate because (1) the areas in western Canada receive more radiation than those in the Scandes, and less than in the Alps, (2) the areas in western Canada are more continental than the Scandes and the Alps, (3) the areas in western Canada extend into much colder conditions that the Scandes and the Alps, and (4) overlap in climatic variables is concentrated in small areas. Further research is needed to understand permafrost in mountains of western Canada.Despite the imperfections of reanalysis products, they present a unique and homogeneous data source for the remote and sparsely measured cryosphere regions. As such, this method can better inform the transfer of cryosphere knowledge between mountains globally.
Transfert des connaissances sur la cryosphère entre les montagnes au niveau mondial : Une étude de cas des montagnes de l’Ouest canadien, des Alpes européennes et des Scandes.
Authors: Stewart-Jones Emilie , Gruber Stephan
Published: November 2023

Le pergélisol est présent dans les montagnes au niveau mondial, mais la plupart des recherches se sont concentrées sur la petite zone couverte par les Alpes européennes. Cet article présente une méthode de comparaison des climats régionaux à une échelle grossière afin de mettre en évidence les similitudes et les différences entre les Alpes européennes et les Scandes, d’une part, et les régions montagneuses de l’ouest du Canada avec pergélisol, d’autre part. Les variables climatiques de la réanalyse ERA5 pertinentes pour le pergélisol des montagnes sont moyennées sur la période 1986-2005 et comparées. Cela permet de comprendre où les conditions du pergélisol peuvent être comparées et où de nouvelles recherches sont nécessaires.Dans cette application, nous concluons qu’un transfert direct des connaissances sur les régimes de température du sol et les modèles spatiaux des Scandes et des Alpes à l’ouest du Canada n’est pas approprié parce que (1) les régions de l’ouest du Canada reçoivent plus de rayonnement solaire que celles des Scandes, et moins que celles des Alpes, (2) les régions de l’ouest du Canada sont plus continentales que les Scandes et les Alpes, (3) les régions de l’ouest du Canada s’étendent dans des conditions beaucoup plus froides que les Scandes et les Alpes, et (4) le chevauchement des variables climatiques se concentre dans de petites régions. Des recherches supplémentaires sont nécessaires pour comprendre le pergélisol dans les montagnes de l’ouest du Canada.Malgré les imperfections des produits de réanalyse, ils constituent une source de données unique et homogène pour les régions éloignées et peu mesurées de la cryosphère. En tant que telle, cette méthode permet de mieux informer le transfert des connaissances sur la cryosphère entre les montagnes du monde entier.
Les vues glaciaires de Jean-Antoine Linck – un jalon de l’histoire des glaciers du Mont Blanc du xviiie au xixe siècle
Authors: Nussbaumer Samuel U. , Zumbühl Heinz J.
Published: November 2023

Des approches interdisciplinaires sont nécessaires pour reconstruire les fluctuations des glaciers au xixe siècle, au-delà du début des mesures systématiques. Par exemple, des documents historiques ont été appliqués pour reconstituer d’anciennes étendues des glaciers sur différents sites, notamment dans la région du Mont-Blanc, qui sont très bien documentés et devenus populaires parmi les artistes, les scientifiques et les voyageurs depuis le milieu du xviiie siècle. Le Genevois Jean-Antoine Linck est probablement l’artiste à qui l’on doit le plus de vues glaciaires exceptionnelles. La préférence particulière de Linck était les régions des glaciers, qu’il a découvertes et dessinées avec une audace d’alpiniste et une exactitude de naturaliste, principalement à la gouache, bien que de nombreux croquis au crayon aient été conservés. Linck a subtilement utilisé la technique de la gravure pour créer des planches de grand format facilement reproductibles, qui ont été ensuite coloriées à la gouache et à l’aquarelle. Cette technique lui a permis de créer de nombreuses reproductions d’une même vue, tout en leur donnant un aspect unique et original. Elles sont remarquables de sérénité et de silence, tout en offrant des ambiances lumineuses. Ces illustrations introduisent la représentation réaliste de la haute montagne dans l’iconographie de la peinture genevoise et conduisent ainsi à une nouvelle forme de peinture de paysage à caractère permanent. D’un point de vue de l’histoire des glaciers, et bien que nombre de ses œuvres ne soient pas exactement datées par l’auteur, l’ouvrage de Jean-Antoine Linck est indispensable. Il représente l’ensemble de l’évolution de la mer de Glace et du glacier des Bossons, mais également d’autres glaciers, pendant la période allant de la fin du xviiie siècle jusqu’au maximum glaciaire du xixe siècle vers 1820. L’œuvre de Linck accorde au territoire du Mont-Blanc la même importance, en termes d’iconographie des glaciers, que celle de Caspar Wolf et Samuel Birmann pour les Alpes centrales suisses, ou de Thomas Ender pour les Alpes autrichiennes. Linck était donc à la fois artiste et historien des glaciers.reconstitutions glaciaires, iconographie, Jean-Antoine Linck, région du Mont-Blanc, Petit âge glaciaire
Exploring the Mechanisms for Value-for-Money Diffusion in the Design and Procurement of EU Public Infrastructure Projects
Authors: Antoniou Fani , Marinelli Marina , Petroutsatou Kleopatra
Published: November 2023

This chapter presents procurement and design options that can lead to public projects of higher value for money (VfM) within the currently applicable EU legislation. It particularly highlights how the timing and extent of the contractor's involvement in design enables value management/engineering and constructability reviews and maximizes project VfM. Furthermore, this chapter demonstrates how the best VfM can be achieved with the integration of features from the open tender and the Competitive Dialogue (CD). This hybrid approach gives to any contractor the option to submit value-enhancing design variants within the context of an open procedure and processes their submitted proposals as per the main principles of the CD. In this context, the contracting authorities need to select specific VfM-enhancing criteria as well as an efficient and objective method to address the emerging design comparisons, evaluations, and bid rankings. The authors address this gap with a multi-criteria decision-making model and provide a detailed example in line with the EU procurement legislation.
The Impact of Risks and Uncertainty in the Life Cycle Cost Analysis of Construction Projects
Authors: Kirytopoulos Konstantinos , Sarlis Vasileios , Marinakis Dimitris , Kalogeropoulos Theodoros
Published: November 2023

Construction projects are subject to risks and uncertainty that make the final cost of the investment difficult to predict. A life cycle cost analysis incorporating the risks involved could prove useful in the decision-making process. This analysis should be done at the start of the conception phase of the project and work itself along the project's realization. This chapter presents a specific approach for the implementation of a risk-based life cycle cost analysis. The proposed approach covers the risk-based life cycle cost analysis of a construction project, through the incorporation of well-established risk identification and risk analysis methods. The risk identification process regarding the energy-based risks of a residential construction project is performed. Finally, the proposed method is showcased on an illustrative case of a residential building with multiple different energy-based investment scenarios, and its results form the basis for the decision-making of the project.
Investigating Mega Project Schedule Challenges in Transnet Capital Projects
Authors: Naidoo Vannie , Chetty Rajen
Published: November 2023

In view of the present climate around the globe, mega infrastructure developments are considered to be key catalysts driving economic development and social upliftment and transformation within the world economies today. However, the complexity of megaproject development especially when it comes to infrastructural development is a like a dual edged sword, and in recent years, the delivery of many infrastructural projects have come under scathing attack for schedule slippages, huge cost overruns, and questions over real benefits to the economic viability and sustainability it proposes to bring to the countries future DDP and GNP. This study analysed megaproject schedule challenges in transnet capital projects (TCP) in South Africa. The study employed a survey, and quantitative data were collected using a closed ended questionnaire from 191 megaproject personnel. The objective of the study was to undertake the quantitative analysis to critically assess schedule challenges.
Exploring the Use of a Social Determinants of Health Focused History Script to Facilitate Patient Conversations
Authors: Moll Kaitlynn R. , Eberman Lindsey E. , Picha Kelsey J. , Nye Jessica R. Edler , Uriegas Nancy A. , Winkelmann Zachary K.
Published: November 2023

Context

Screening for social determinants of health (SDOH) factors is fundamental to addressing barriers to health outcomes and identifying resources needed to provide patient-centered care. However, SDOH can be a difficult area of patient care to navigate without a screening tool.

Objective

To explore athletic training students’ abilities to screen for SDOH factors via standardized patient (SP) encounters and to describe the experience of screening for SDOH factors.

Design

Prospective, mixed-methods cohort study.

Setting

Simulation laboratory.

Patients or Other Participants

Fifty-four postbaccalaureate professional athletic training students (women = 43, men = 11; age = 23 ± 1 years).

Intervention

The same SP encounter was completed with 2 cohorts of athletic training students, with 1 intervention cohort (n = 29) screening for the SDOH without an aide and the control cohort (n = 25) screening with the mandatory use of a validated SDOH focused history script.

Main Outcome Measures

The SP encounters were evaluated using a tool containing an SDOH evaluation by domain and Athletic Training Milestone competencies. Following the SP encounter, each learner completed a postlearning survey. Data were analyzed using descriptive statistics, Mann-Whitney U tests, and thematic qualitative analysis.

Results

We identified a significant difference (P ≤ .001) for the overall screening for the SDOH, with the intervention cohort that was required to use the focused history script scoring significantly higher than the control cohort. The intervention cohort scored significantly higher (P ≤ .001) on the Athletic Training Milestones than the control cohort, but the intervention cohort self-rated their performance as lower during the reflection.

Conclusion

The use of the focused history script during the SP encounter highlighted the need for a screening tool to be present during the evaluation to facilitate a conversation about the SDOH. When health care students were not required to use the focused history script to screen for the SDOH, most failed to elicit information about the SDOH factors or performed poorly during the screening.
Role of Ultrastructural Study in the Diagnosis of Medical Renal Diseases: A Tertiary Medical Center Experience and Review of the Literature
Authors: El Chediak Alissar , Tawil Ayman , Farroukh Lea , Farhat Hadi , Kassouf Hala Kfoury
Published: November 2023

The 20th century unfolded many mysteries regarding renal pathology with the advent of ancillary techniques such as immunofluorescence (IF) and electron microscopy (EM) studies. EM plays a major role in confirming the routine and IF findings or may uncover new and unsuspected features. The aim of the study is to elucidate the role of ultrastructural findings in patients with medical kidney diseases on whom kidney biopsy was performed at the American University of Beirut Medical Center, between November 2018 and June 2019. A total of 188 renal biopsies were examined during the study period. EM confirmed the light microscopy diagnosis in 54% of the cases while completely changed the diagnosis in 23% of the cases. In 23% of the sample, EM provided additional features and a secondary diagnosis. Our study emphasizes the important diagnostic role of EM and its significance, particularly in minimal change disease, basement membrane abnormalities, and glomerulopathies.
Knowledge and Perceptions on End-of-life Care among End-stage Renal Disease Patients on Hemodialysis
Authors: Rozi Nur Raziana Binti , Bin Wan Ali Wan Ahmad Syahril Rozli , Bin Draman Che Rosle , Pasi Hafizah Binti , Rathor Mohammad Yousuf
Published: November 2023

The role of end-of-life care is fundamental for end-stage renal disease (ESRD) patients, who are known to have a high morbidity and mortality rate despite being on dialysis. This requires effective communication and shared decision-making. Thus, exploring patients' knowledge and perceptions is essential to improve the gaps in delivering end-of-life care. This study aimed to describe the knowledge and perceptions of end-of-life care among ESRD patients on hemodialysis (HD). This was a cross-sectional study involving 14 outpatient HD centers in Kuantan, Malaysia. Patients were recruited from March to June 2019. A validated questionnaire was delivered via interview-based surveys by the researcher or trained interviewers. The majority of the respondents had poor knowledge of the disease and end-of-life care. However, more than 70% of the respondents felt that it was important for them to be actively involved in medical decision-making, as well as being prepared and planning for death. End-of-life needs, which included management of symptoms and psychological, social, and spiritual support, were important to most respondents. Additionally, patients with higher educational backgrounds were observed to have higher scores for both knowledge and perceptions (P <0.05). The study found poor knowledge but acceptable perceptions among patients. This highlights the gaps in the current local approach in clinical practice to end-of-life care in ESRD.
Transplant Nephrectomy: Current Concepts
Authors: Gunawardena Thilina , Ridgway Dan
Published: November 2023

Kidney transplantation is the gold standard treatment option for patients with endstage kidney disease. As the number of waitlisted patients increases, the gap between supply and demand for suitable donor kidneys keeps widening. The adoption of novel strategies that expand the donor pool has attenuated this issue to a certain degree, and this has led to a progressive increase in the number of annual transplants performed. As transplanted kidneys have a finite lifespan, there is a reciprocal rise in the number of patients who return to dialysis once their allograft fails. The clinicians involved in the management of such patients are left with the problem of managing the nonfunctioning allograft. The decision to undertake transplant nephrectomy (TN) in these patients is not straightforward. Allograft nephrectomy is a procedure that is associated with significant morbidity and mortality. It will have implications for the outcomes of the subsequent transplant. In this review, we aimed to compressively discuss the indications, techniques, and outcomes of TN, which is an integral component of the management of a failing allograft.
Weill–Marchesani Syndrome
Authors: Sandal Sapna , Shanker Varshini , Pal Swasti , Bijarnia-Mahay Sunita
Published: November 2023

Background:

Weill–Marchesani syndrome (WMS) is a rare heritable connective disorder characterized by short stature, brachydactyly, stiff joints and distinctive ocular manifestations of microspherophakia, myopia, ectopia lentis, and glaucoma. It is caused by either biallelic pathogenic variants in ADAMTS10, ADAMTS17, and LTBP2 or heterozygous pathogenic variants in FBN1 genes.

Clinical Description:

We describe a case of 6-year-old girl who had short stature, high myopia, and bilateral ectopia lentis. The visual acuity was 6/18 (−25.00/−3.00 × 35) in both the eyes with an intraocular pressure (IOP) 15 mmHg and 17 mmHg in right and left eye, respectively. The clinical exome sequencing identified a heterozygous pathogenic c.2413T>C in FBN1 gene confirming the diagnosis of WMS.

Management:

The proband was prescribed a trial of contact lenses and she is under regular follow-up. The patient is being regularly monitored for any signs of lens displacement, raised IOP. She has been planned for lens extraction, to prevent glaucoma, in case of any progression of symptoms or rise in IOP.

Conclusion:

WMS should be suspected in any child with short stature and high myopia. The rarity of this disorder often results in diagnostic delay and dreaded complications of secondary glaucoma and blindness.
Neonatal Marfan Syndrome Due to Missense Mutation in Exon 26 of Fbn1 Gene
Authors: Patel Hitesh , Balasubramaniam Seema
Published: November 2023

Background:

Neonatal Marfan syndrome (MFS) lies at the most severe end of the MFS clinical spectrum, sharing some characteristics of MFS, but with a more severe clinical phenotype, slightly variable genotype, and a poor prognosis. We report a case of neonatal MFS diagnosed antenatally and in whom diagnosis was established postnatally by clinical exome sequencing.

Clinical Description:

A routine antenatal ultrasonography identified a dilated aortic root, oligohydramnios, fetal femur, and long bones length >99th percentile for the period of gestation findings in a fetus at 35 weeks of gestation. The baby was born by a cesarean section due to nonprogress of the labor. At birth, he had multiple anomalies including bilaterally cloudy cornea, bluish sclera, long slender fingers, hyperflexion of the wrist, ankle joints, and pulsatile precordium.

Management:

The patient developed severe respiratory distress immediately after birth and was intubated and initiated on positive pressure ventilation. The baby was supportive of fluid and inotropic management. The diagnosis was established based on characteristic echocardiographic findings and identification of a likely pathogenic variant disrupting the p.Cys1068 amino acid residue in FBN1, located at exon 26, which is the “neonatal” region known to be associated with neonatal MFS. The baby succumbed.

Conclusion:

Although neonatal MFS has a poor prognosis, multidisciplinary intervention is required to determine the best course of action.
Pericecal Hernia
Authors: Anand Mugdha , Sahi Puneet Kaur
Published: November 2023

Background:

Internal hernias involve prolapse of any viscus through normal or abnormal mesenteric or peritoneal aperture and constitute <1% of all cases of hernia. Pericecal hernia is one form of internal hernia rarely reported in the pediatric population.

Clinical Description:

We describe the case of a 10-year-old boy with underlying tetralogy of Fallot, who presented with third episode of severe abdominal pain, requiring hospital admission with tenderness in the umbilical and right iliac quadrants, voluntary guarding but no organomegaly or abdominal distension, and preserved bowel sounds.

Management:

Baseline investigations (complete blood count, C-reactive protein, erythrocyte sedimentation rate, blood culture sensitivity, and stool and urine microscopy) and serum amylase and lipase were normal. Ultrasound showed mesenteric lymphadenopathy but no pancreatitis or appendicitis. Computed tomography (CT) demonstrated circumferential wall thickening in distal ileum with clustering of distal ileal loops, posterior and lateral to the cecum, extending into right paracolic gutter, suggestive of pericecal hernia. Child received conservative management and improved. Definitive surgical reduction was deferred due to negative parental consent.

Conclusion:

To conclude, internal abdominal hernia is rare in children with nonspecific clinical presentation. CT should be considered when underlying etiology of acute abdomen is not found on the basis of history, examination, and baseline investigative workup. Early intervention helps in reducing the morbidity and mortality to great extent.
Multidisciplinary Early Intervention in a Child with Autism and Childhood Apraxia of Speech
Authors: Dalwai Samir H. , Parakh Anushka , Garg Manish , Chawla Barkha , Joshi Madhura Rohit , Kumari Shruti
Published: November 2023

Background:

Childhood apraxia of speech (CAS) is a neurological pediatric speech sound disorder, in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits. It is a common comorbidity in autism spectrum disorder (ASD) and requires detailed analysis to identify the typical errors in speech.

Clinical Description:

A 25-month-old boy presented with speech delay. The evaluation revealed an impaired absence of meaningful speech, impaired nonverbal communication and social skills, repetitive atypical behavior, and sensory issues with normal hearing. Although autism was suspected, the diagnosis could not be established, and intervention was started based on strengths and weaknesses. There was minimal improvement and discordance between receptive and expressive language was noted. Manifestations evolved over 15 months until a diagnosis of ASD was established by standard protocol. CAS was diagnosed at almost 4 years when a few meaningful words had developed and errors in oral movements, articulation, and phonological development were identified.

Management and Outcome:

Initially, the child received multidisciplinary management customized according to the strengths, weaknesses, and needs of the child. There was minimal improvement in communication, social interaction, and overall functioning. Identification of autism and slight changes in intervention did not bring about any remarkable changes. Once CAS was identified, and the focus of management changed there was a remarkable improvement in speech, and mild improvement in other aspects.

Conclusion:

Nonverbal or minimally verbal children with autism should be evaluated for CAS, especially if there is discordance between expressive and receptive language.
Neonatal Scrub Typhus – A Sepsis Mimic
Authors: Reddy Jagruthi , Rajan Nishanth , Dinakaran Sridevi , Krishnan Lalitha
Published: November 2023

Background:

Scrub typhus is the most prevalent rickettsial infection in India. It is caused by Orientia tsutsugamushi. Although there are few reports suggesting vertical transmission from the mother to baby, it is extremely rare.

Clinical Description:

We describe a 1-day-old baby who was referred to us for respiratory distress and diagnosed as meconium aspiration syndrome, the clinical features of which resolved by the 10th day. The baby developed fever on the 11th day of life and was detected to have developed pallor and hepatosplenomegaly. History revealed maternal fever preceding and continuing well beyond delivery.

Management:

Late-onset sepsis was initially suspected in the baby. After reviewing the maternal history, transplacental transmission of scrub typhus was considered. Immunoglobulin M enzyme-linked immunosorbent assay was positive in the mother–baby dyad, but polymerase chain reaction for scrub typhus was negative. However, both exhibited a dramatic response in resolution of fever with doxycycline in the former and clarithromycin in the latter. On follow-up, the baby was well and gaining weight.

Conclusion:

Proper history and early initiation of management are important for reducing the morbidity and mortality of newborns with scrub typhus.
Permanent Neonatal Diabetes Mellitus in an Indian Infant Due to a Novel Mutation in the Glucokinase Gene
Authors: Surender Kagithapu , Kartikeswar Gouda Ankula Prasad , Mounika Veldanda , Baske Kishore
Published: November 2023

Background:

Neonatal diabetes mellitus (NDM) is a rare condition, usually genetic in etiology, that presents with hyperglycemia requiring insulin within the first 6 months of life. Most cases of permanent NDM are caused by mutations in the KCNJ11 or ABCC8 gene, which are involved in the potassium adenosine triphosphate channels.

Clinical Description:

A 1.88 kg female infant product of a consanguineous marriage was delivered at term by cesarean section for oligohydramnios and intrauterine growth retardation. There was a strong family history of DM involving the mother, father, and grandparents. Clinical examination was normal. Routine blood sugar monitoring identified hyperglycemia at 1 and 3 h. There was no clinical or laboratory evidence of sepsis.

Management:

Persistent hyperglycemia continued that necessitated the administration of insulin from the 1st day onward. The abdominal ultrasonogram was normal. C-peptide was low, indicating poor endogenous insulin production. Genetic analysis revealed a novel mutation in the glucokinase (GCK) gene (p. Glu178Asp). A brief trial of sulfonylureas (glibenclamide) was ineffective. The infant attained control, although with considerable difficulty, on a mixture of NPH and long-acting insulin. After 5 months of follow-up, she is thriving well.

Conclusion:

GCK mutation is a rare but important cause of NDM. To the best of our knowledge, this is the first Indian infant to be reported with a GCK gene mutation.
Cerebral Venous Sinus Thrombosis with Heterozygous Methylenetetrahydrofolate Reductase Mutation
Authors: Maji Prabir , Mishra Sudhir , Singh Deepshikha
Published: November 2023

Background:

Cerebral venous sinus thrombosis (CSVT) in children is a rare, obscure, but potentially fatal problem. The clinical presentation is varied, as is the multiple underlying causes. CSVT can be seen in patients with inherited or acquired prothrombotic risk factors, even in the absence of an underlying condition. The respective etiological roles of methylenetetrahydrofolate reductase (MTHFR) CG677T mutation and hyperhomocysteinemia in CSVT is still not clear. We present a case of CSVT following a minor head injury, in whom an MTHFR mutation was identified, but with initial normal homocysteine levels.

Clinical Description:

A 9-year-old boy presented with nonaccidental fall followed by persistent headache, projectile vomiting, bradycardia and hypertension suggesting features of raised intracranial pressure. Brain imaging (magnetic resonance venography) showed extensive dural venous sinus thrombosis. Prothrombotic workup revealed heterozygous CG677T polymorphism of the MTHFR gene with normal serum homocysteine, B12 and folate levels.

Management:

The child was given supportive management. Low-molecular-weight heparin was initiated followed by long-term warfarin. There were no neurological deficits at discharge. Six months afterward, there is persistence of thrombosis with partial recanalization in the affected cerebral sinuses. The serum homocysteine level is now marginally elevated.

Conclusion:

Available neuroimaging should be promptly instituted to establish CSVT. A targeted search for prothombotic risk factors should be undertaken but within the proper timeframe. Genetic mutations may be identified accurately in the acute phase, but other factors should be done after 4–6 weeks. The relationship between MTHFR polymorphisms and hyperhomocysteinemia with venous thrombosis is yet to be defined.
Expanding the Phenotype of Neurological Manifestations of Dengue Fever
Authors: Mittal Arpit , Kumar Sonu , Rana Radhamohan , Kaushik Jaya Shankar
Published: November 2023

Background:

Neurological manifestations following dengue fever are increasingly reported and include encephalopathy, encephalitis, neuro-ophthalmic manifestations or Guillain–Barre syndrome-like presentation. Herein, we expand the clinical spectrum of this neurological repertoire by describing two patients presenting with acute necrotizing encephalopathy of childhood (ANEC) following dengue fever.

Clinical Description:

Both patients presented with features of acute febrile encephalopathy following an acute febrile illness that proved to be dengue fever. Laboratory investigations revealed thrombocytopenia (patient 1), transaminitis and normal findings on cerebrospinal fluid analysis (patient 1 and 2). Both the patients tested positive for NS1 antigen and dengue serology. Neuroimaging revealed bilateral symmetrical thalamic lesions with cerebellar, midbrain, and cortical white matter lesions suggestive of ANEC.

Management:

Patient 1 received supportive treatment while patient 2 received pulse methylprednisolone therapy along with supportive treatment. Both the patients had complete clinic-radiological recovery.

Conclusion:

ANEC following dengue fever may have a relatively benign course, besides the fulminant course that has been described earlier in a single case.
Splenic Abscess
Authors: Sharma Rahul , Marodia Yashi , Dawman Lesa , Bhatia Anmol , Tiewsoh Karalanglin
Published: November 2023

Background:

Scrub typhus is endemic in the various parts of the world and especially in the Indian subcontinent. Splenic infarcts and abscess are largely unknown in scrub typhus. These can be a source of persistent abdominal pain in the left hypochondriac region.

Clinical Description:

A 9-year-old child presented with a 7-day history of fever, loose stools, respiratory distress, and abdominal pain. On examination, she was febrile, had tachypnea, tachycardia, pallor, and facial puffiness. Systemic examination showed pleural effusion and hepatomegaly. Acute febrile illness with third spacing led to differentials of tropical infections (dengue, scrub typhus, enteric fever, and malaria).

Management:

Dengue, enteric fever, and malaria were ruled out on investigations. Scrub IgM enzyme-linked immunosorbent assay was positive. Ultrasound of the abdomen showed multiple splenic anechoic lesions suggestive of abscesses. Contrast-enhanced computed tomography (CT) confirmed the findings. Ultrasonography-guided aspiration of the lesion revealed blood-stained pus. The gram stain was negative, and culture was sterile. The final diagnosis was scrub typhus with splenic abscess. Her symptoms resolved with doxycycline therapy.

Conclusion:

Involvement of the spleen resulting in infarct and abscess is a rare complication in scrub typhus and can lead to persisting abdominal symptoms. Splenic infarction is not a well-known complication in patients of scrub typhus; hence, it may lead to under diagnosis of the condition. An abdominal ultrasound or if required, CT scan of the abdomen might be needed in cases with persistent abdominal symptoms to rule out this rare complication.
Focal Nodular Hyperplasia with Steroid-Resistant Nephrotic Syndrome
Authors: Agrwal Shipra , Mantan Mukta , Batra Vineeta Vijay
Published: November 2023

Background:

Paraneoplastic glomerulonephritis (GN) are defined as glomerular lesions not directly related to tumor burden, invasion, or metastasis but induced by products of tumor cells. They are usually associated with solid tumors of gastrointestinal tract and hematological malignancies. Nephrotic syndrome is a rare manifestation of paraneoplastic syndromes, especially in children and biopsy findings are usually those of minimal change disease (MCD) or membranous nephropathy. We describe a case of steroid-resistant nephrotic syndrome with focal nodular hyperplasia (FNH) of liver. To the best of our knowledge, this has not been reported previously.

Clinical Description:

A 9-year-old boy presented with features of nephrotic syndrome and had a significant hepatomegaly. Based on radiological features and histopathological confirmation, the child was diagnosed to have a hepatic tumor consistent with a diagnosis of FNH, and the renal biopsy was suggestive of MCD.

Management:

As FNH did not require a surgical intervention, the nephrotic syndrome was managed with prednisolone initially, but the patient failed to achieve remission and was subsequently started on oral tacrolimus with enalapril and low-dose alternate day prednisolone. Remission of proteinuria was achieved within 2 months, and the child has been in follow-up for the past 18 months and the liver mass has been stable.

Conclusion:

This report suggests a possible paraneoplastic GN (steroid-resistant nephrotic syndrome) with FNH of liver that responded to immunosuppression.