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Microcephalic osteodysplastic primordial dwarfism (MOPD) syndrome type 2, caused by a mutation in the PCNT gene (21q22.3), is a rare autosomal recessive disorder. Patients present with bone dysplasia, insulin resistance, kidney diseases, and cardiac malformations, making them prone to vascular diseases. Cardiomyopathy, hypertension, and coronary diseases are documented. The prognosis is associated with cerebrovascular complications.
Method:
We report a case of a patient with MOPD type II who suffered a myocardial infarction in our institution. Informed consent for publishing was obtained.
Result:
A 17-year-old female with MPOD II syndrome (20 kg and 86 cm) was referred for chest pain. Thoracic pains had been occurring for over a month, increasing in intensity, with an episode prompting emergency consultation. Initial tests revealed elevated troponin and an inflammatory response. Electrocardiogram (ECG) showed ST-segment depression and elevation. Echocardiography revealed hypokinetic inferior walls with moderate concentric hypertrophy. A coronary CT scan showed subendocardial hypodensity. Diagnostic coronary angiography revealed tri-branch lesions and almost complete stenoses or occlusions on the circumflex artery (Image). No indication for interventional treatment due to diffuse atheromatous lesions. Exclusive medical treatment was initiated.
Conclusion:
MPOD II syndrome is associated with cardiac malformations and neurovascular complications, including myocardial infarction. Regular ECG monitoring is advisable. Active surveillance for coronary diseases is necessary from adolescence. Recognising this complication allows for prompt intervention. This case highlights the need for specific monitoring and prompt management of chest pain in patients with MPOD II syndrome. Primary prevention could mitigate the occurrence of coronary events in this high-risk population.
From the seventeenth to the twentieth century, rivers played a key role in the colonization of Hokkaido, a northern island in the Japanese archipelago. The Kushiro River, in eastern Hokkaido, was transformed into infrastructure, a process which shaped the institutions, strategies, and practices of territorial control during the transition from the Tokugawa shogunate (1603–1868) to Imperial Japan (1868–1947). Trade between local Ainu communities and the shogunate's vassals contributed to a river-based territoriality. Later in the 1800s, as the island became territory of the modern state, the river was further converted into infrastructure through settler colonialism, industrial development, land reclamation, and the dispossession of indigenous communities. This transformation empowered the state to probe territories, exert control over labor, and access natural resources. Drawing on research on the political ecology of rivers, this paper focuses on two hydrosocial functions that emerged during the process of reworking river basins into legible and governable spaces: the transportation conduit and the water delivery system. The river's transition from a living system to infrastructure coincided with and furthered the establishment of colonial settlements and the expansion of the Japanese state's imperial reach.
The volume filtering of the governing equations of a particle-laden flow allows for simulating the fluid phase as a continuum, and accounting for the momentum exchange between the fluid and the particles by adding a source term in the fluid momentum equations. The volume filtering of the Navier–Stokes equations allows consideration of the effect that particles have on the fluid without further assumptions, but closures arise of which the implications are not fully understood. It is common to either neglect these closures or model them using assumptions of which the implications are unclear. In the present paper, we carefully study every closure in the volume-filtered fluid momentum equation and investigate their impact on the momentum and energy transfer dependent on the filtering characteristics. We provide an analytical expression for the viscous closure that arises because the filter and spatial derivative in the viscous term do not commute. An analytical expression for the regularization of the particle momentum source of a single sphere in the Stokes regime is derived. Furthermore, we propose a model for the subfilter stress tensor, which originates from filtering the advective term. The model for the subfilter stress tensor is shown to agree well with the subfilter stress tensor for small filter widths relative to the size of the particle. We show that, in contrast to common practice, the subfilter stress tensor requires modelling and should not be neglected. For filter widths comparable to the particle size, we find that the commonly applied Gaussian regularization of the particle momentum source is a poor approximation of the spatial distribution of the particle momentum source, but for larger filter widths, the spatial distribution approaches a Gaussian. Furthermore, we propose a modified advective term in the volume-filtered momentum equation that consistently circumvents the common stability issues observed at locally small fluid volume fractions. Finally, we propose a generally applicable form of the volume-filtered momentum equation and its closures based on clear and well-founded assumptions. Based on the new findings, guidelines for point-particle simulations and the filter width with respect to the particle size and fluid mesh spacing are proposed.
The article presents the results of the last decade of archaeological and epigraphic research, which clarified the history of the polities of the ancient Maya sites of Holmul and Naranjo during the expansion of the Dzibanche royal dynasty in the eastern area of the Department of Peten, Guatemala, from the second half of the sixth century through the first half of the seventh century a.d. The discussion centers on the textual and material indicators of the geopolitical contacts of the royal families of Sak Chuwen of Naranjo and Chak Tok Wayaab of Holmul, including changes in polychrome pottery and hieroglyphic inscriptions, in particular, rhetoric of good governance and political loyalty. In the case of Holmul, the transformation affects the urban landscape of the site. New data clarify the relationship between Holmul and Naranjo during the initial period of their subordination to the kings of Dzibanche. The emerging picture of these secondary alliances and hierarchies within the Kaanu'l domain is essential for a better understanding of Classic Maya political systems at local and regional levels.
En la Mesa Redonda de Palenque de 2004 Erik Velásquez propuso que los gobernantes mayas que portaban el glifo emblema de Kaanuˀl pudieron haber residido durante el Clásico Temprano en Dzibanché, pues no existen referencias que los vinculen con Calakmul antes de 631 d.C. Aquí revisamos los datos sobre su presencia en Dzibanché y otros asentamientos de la región. Argumentos de distinta naturaleza que apoyan este escenario se publicaron desde 2005 hasta 2016, incluyendo los hallazgos de Xunantunich (Helmke y Awe 2016a, 2016b), que permiten conjeturar que una facción disidente de la dinastía se separó de Dzibanché y fundó en 635 d.C. una sede alternativa en Calakmul. Ello produjo el panorama que proponemos en el Clásico Tardío, donde había mandatarios simultáneos de la dinastía Kaanuˀl en el sur de Campeche y en el sur de Quintana Roo, toda vez que en Dzibanché seguían residiendo gobernantes Kaanuˀl al menos hasta el siglo VII.
Inference in spatial and spatio-temporal models can be challenging for a variety of reasons. For example, non-Gaussianity often leads to analytically intractable integrals; we may be in a ‘big’ data setting, whereby the number of observations renders traditional methods too computationally expensive; we may wish to make inferences over spatial supports that are different to those of our measurements; or, we may wish to use a statistical model whose likelihood function is either unavailable or computationally intractable. In this thesis, I develop several techniques that help to alleviate these challenges.
Previous studies investigating behavioural health screening processes have focused on selected diagnoses within paediatric cardiology and focused on a smaller number of potential concerns. We developed and administered a brief survey in our paediatric heart centre to assess the presence of a wider variety of behavioural health concerns and to connect patients with resources. A cohort of 305 patients aged 2–29 years (M = 11.97 years; SD = 6.00 years; 50.49% female), representing a variety of indications for a cardiology clinic visit, or a parent, completed a survey of 14 common behavioural health concerns. Behavioural health concerns were included based on practice patterns within paediatric psychology. Respondents indicated if they were currently receiving behavioural health services and if they were interested in behavioural health follow-up. Surveys were administered during check in and collected by clinic staff. A behavioural health provider attempted to reach all those who indicated interest by phone. Approximately 45% of the sample endorsed one or more behavioural health concerns and 30.16% of the sample endorsed at least one concern but were not already connected to services. Only 27.17% of this group requested follow-up. Most commonly endorsed concerns were anxiety, sleep problems, depressed/irritable mood, and somatic complaints. Survey results converge with existing literature to indicate that behavioural health concerns are common among youth seen in a paediatric cardiology clinic but most patients are not connected to appropriate services. Screening programmes can help meet this need but challenges remain. Clinical implications and future directions are discussed.
Hereditary connective tissue diseases have different risks of aortic dissection depending on the causative gene. We report a family with no extravascular phenotype and a clinical diagnosis of familial thoracic aortic aneurysm and dissection, but genetic testing confirmed p.Tyr470Cys in TGFBR2, which is typically the responsible gene for Loeys–Dietz syndrome. Validation of the clinical diagnosis by genetic testing is warranted.
‘Biological’ and ‘social’ perspectives in psychiatry have exchanged dominance at different times in the history of our field and are sometimes erroneously viewed as being contrasting and mutually exclusive paradigms. We argue that the arbitrary ‘biological/social’ divide in psychiatry is misleading, unhelpful, and ultimately a false one. We propose that the evolutionary perspective provides a necessary framework and metatheory that can bridge this apparent schism in psychiatric thinking, providing novel and useful insights into how we can better assess, diagnose, and treat our patients.
The Kaanuˀl dynasty ruled a hegemonic state with political influence over much of the Classic Maya Lowlands between a.d. 520 and 751. The present article introduces the subject for a special section of the journal, which refocuses attention on the archaeological zone of Dzibanche in southern Quintana Roo, Mexico, where new data are emerging about the origins of the Kaanuˀl dynasty, its urban organization, and its connections to neighboring centers. In this article, we present new data from a recent lidar survey as well as from previous work by Enrique Nalda's Instituto Nacional de Antropología e Historia (INAH) project to reevaluate Dzibanche's characteristics vis-à-vis its rise as a kingdom with far-reaching political influence. We complement these archaeological data with epigraphic information from new monuments and reanalysis of existing ones based on 3D scanning to update the list of Dzibanche rulers. We then revisit the chronology of Dzibanche's royal burials proposing correlations with known Early Classic Kaanuˀl rulers. Overall, the contributions to this special section present new perspectives on the Kaanuˀl's rise to power and its relationship with distant vassals in the crucial period of expansion into northern Peten, leading to the defeat of Tikal and eventually to its transition to a new dynastic seat at Calakmul in the a.d. 630s.
Medical dramas such as Grey's Anatomy influence young people's career aspirations, creating unrealistic expectations. This article examines the gap between these portrayals and the reality of medical practice, highlighting challenges such as rigorous training and high stress. Using Italy's ‘numero chiuso’ (‘closed number’) system as a case study, it addresses the global issue of intense competition in medical school admissions. The article advocates for realistic education and better support to prepare future healthcare professionals.
We prove a nonabelian variant of the classical Mordell–Lang conjecture in the context of finite- dimensional central simple algebras. We obtain the following result as a particular case of a more general statement. Let K be an algebraically closed field of characteristic zero, let $B_1,\dots ,B_r\in \mathrm {GL}_m(K)$ be matrices with multiplicatively independent eigenvalues and let V be a closed subvariety of $\mathrm {GL}_m(K)$ not passing through zero. Then there exist only finitely many elements of $\mathrm {GL}_m(K)$ of the form $B_1^{n_1}\cdots B_r^{n_r}$ (as we vary $n_1,\dots ,n_r$ in $\mathbb {Z}$) lying on the subvariety V.
Patients with univentricular hearts can only be palliated by a staged surgical procedure that carries a high morbidity and mortality risk. The aim of this study was to examine the emotional demands, psychosocial burden, and quality of life of parents with children with univentricular hearts compared to parents of children with a simple heart defect, those with no heart defect and children with chronic diseases.
Methods:
An anonymous questionnaire was created to interview parents about their quality of life, stressors, needs, strategies for coping with illness, and partnership satisfaction.
Results:
73 families participated in the study. Parents of children with univentricular hearts experience a significantly higher psychosocial burden, limitations in daily life, and distress in family interactions, as well as greater emotional distress compared to the other study groups. When comparing the families of children with other chronic diseases (e.g. cystic fibrosis, chronic arthritis and diabetes), these differences remained significant.
Conclusion:
The study confirms a higher psychosocial burden, restrictions in daily life and a lower quality of life of parents with children with univentricular hearts, compared to parents of children with simple heart defects and parents of heart-healthy children or those with other chronic diseases. Since this condition persists until adolescence and adulthood, the families are exposed to special challenges and stresses throughout their lives. This has yet to be adequately addressed in the management of these families.
Congenital heart patients undergoing congenital heart surgery in the first year of life are at high risk of having a neurodevelopmental disorder. The most common difficulties are related to executive functioning. The following questions were assessed in the current project: Are patients having congenital heart surgery after one year of life at lower risk for neurodevelopmental disorders? At what age do executive function deficits manifest?
Methods:
We evaluated executive function in four groups of congenital heart patients who had undergone congenital heart surgery. These groups were high-risk patients with and without a genetic syndrome associated with a neurodevelopmental disorder and low-risk patients with and without a genetic syndrome associated with a neurodevelopmental disorder. We evaluated executive function using the Behavior Rating Inventory of Executive Function – Preschool Version, Behavior Rating Inventory of Executive Function-2, and Minnesota Executive Function Scale at various ages. We compared the rates of executive function deficits in the high- and low-risk groups as well as compared that to the published norms for age. We also assessed at what age these deficits become apparent.
Conclusion:
We found that both high- and low-risk groups had higher levels of executive functioning deficits compared to the norms for age. The low-risk group’s degree of executive function deficits appeared a little lower than the high-risk group. However, it was difficult to comment on the statistical significance. We also saw that executive function deficits often do not become apparent for many years after surgery. This finding highlights the need for continued evaluation of functioning as these kids mature.
This study aimed to delineate profiles of self-regulation among sexually abused children and their association with behavior problems using a person-centered approach. A sample of 223 children aged six to 12, their parents, and teachers were recruited in specialized intervention centers. Latent profile analysis revealed four profiles: (1) Dysregulated, (2) Inhibited, (3) Flexibly Regulated, and (4) Parent Perceived Self-Regulation. Children from the Flexibly Regulated profile showed relatively low behavior problems, and those from the Dysregulated profile were characterized by high behavior problems. Children from the Parent Perceived Self-Regulation profile showed overall good adaptation, although teachers reported higher behavior problems than parents. Children from the Inhibited profile, characterized by the highest level of inhibition but low parent-rated emotion regulation competencies and executive functions, showed the highest level of internalizing behavior problems, indicating that high inhibition does not necessarily translate to better adaptation. Results also show a moderation effect of sex. Being assigned to the Inhibited profile was associated with decreased externalizing behaviors in boys and increased internalizing behaviors in girls. This study underscores the complexity of self-regulation in sexually abused children and supports the need to adopt a multi-method and multi-informant approach when assessing these children.
Territory and territoriality lie at the heart of both world politics and International Relations (IR) theory. In terms of IR theory’s geographical assumptions, one of the most influential studies to date has been political geographer John Agnew’s 1994 article on the ‘the territorial trap’ (TTT). While Agnew’s original insights and subsequent research has reached canonical status in political geography, mainstream IR scholarship has yet to fully engage TTT. Political geographers, in turn, have largely dealt with the consequences of TTT for our understanding of world politics. This study offers the first detailed account of the origins of TTT, which are hidden in broad daylight in IR’s own history. The origins of TTT and mainstream IR are intertwined in terms of two dynamics: the racist and colonial origins of IR, and the selective nationalistic ontology that dominated IR especially in the first half of the 20th century. The arguments offered in this study have a wide variety of implications for problematising the ways in which IR-as-epistemological-community approaches territory and territoriality as well as our understanding of the origins and evolution of the present-day global territorial order.