A Case of Trisomy 8

1974 ◽  
Vol 23 (S1) ◽  
pp. 253-258 ◽  
Author(s):  
B. Dallapiccola ◽  
P. E. Gallenga ◽  
A. Pinca ◽  
L. Capra

A case of 8 trisomy syndrome, identified on the basis of the heat denaturation technique, has been detected in a patient with mental retardation, congenital malformations, and peculiar ocular anomalies. This observation confirms that, even without evidence of mosaicism, this chromosome does not seriously upset the viability of cells and could be less deleterious to the individual than trisomy 13, 18, or 21.The mental development is not too much impaired and the skeletal abnormalities are mild, as compared to those found in previously reported cases. On the other hand, the cardiovascular system is involved and the ocular lesions are complex. They include prominent eyes, epicanthus, hypertelorism, antimongoloid slant of palpebral fissures, ectopia of lacrimal point, megalocornea, enlarged iridocorneal angle, subatrophic papilla, tortuosities of retinal vessels, absence of deep perception.

1976 ◽  
Vol 41 (4) ◽  
pp. 523-529 ◽  
Author(s):  
Daniel R. Boone ◽  
Harold M. Friedman

Reading and writing performance was observed in 30 adult aphasic patients to determine whether there was a significant difference when stimuli and manual responses were varied in the written form: cursive versus manuscript. Patients were asked to read aloud 10 words written cursively and 10 words written in manuscript form. They were then asked to write on dictation 10 word responses using cursive writing and 10 words using manuscript writing. Number of words correctly read, number of words correctly written, and number of letters correctly written in the proper sequence were tallied for both cursive and manuscript writing tasks for each patient. Results indicated no significant difference in correct response between cursive and manuscript writing style for these aphasic patients as a group; however, it was noted that individual patients varied widely in their success using one writing form over the other. It appeared that since neither writing form showed better facilitation of performance, the writing style used should be determined according to the individual patient’s own preference and best performance.


2001 ◽  
Vol 60 (3) ◽  
pp. 161-178 ◽  
Author(s):  
Jean A. Rondal

Predominantly non-etiological conceptions have dominated the field of mental retardation (MR) since the discovery of the genetic etiology of Down syndrome (DS) in the sixties. However, contemporary approaches are becoming more etiologically oriented. Important differences across MR syndromes of genetic origin are being documented, particularly in the cognition and language domains, differences not explicable in terms of psychometric level, motivation, or other dimensions. This paper highlights the major difficulties observed in the oral language development of individuals with genetic syndromes of mental retardation. The extent of inter- and within-syndrome variability are evaluated. Possible brain underpinnings of the behavioural differences are envisaged. Cases of atypically favourable language development in MR individuals are also summarized and explanatory variables discussed. It is suggested that differences in brain architectures, originating in neurological development and having genetic origins, may largely explain the syndromic as well as the individual within-syndrome variability documented. Lastly, the major implications of the above points for current debates about modularity and developmental connectionism are spelt out.


2008 ◽  
Vol 1 (2) ◽  
pp. 187-199
Author(s):  
KATHRYN WALLS

According to the ‘Individual Psychology’ of Alfred Adler (1870–1937), Freud's contemporary and rival, everyone seeks superiority. But only those who can adapt their aspirations to meet the needs of others find fulfilment. Children who are rejected or pampered are so desperate for superiority that they fail to develop social feeling, and endanger themselves and society. This article argues that Mahy's realistic novels invite Adlerian interpretation. It examines the character of Hero, the elective mute who is the narrator-protagonist of The Other Side of Silence (1995) , in terms of her experience of rejection. The novel as a whole, it is suggested, stresses the destructiveness of the neurotically driven quest for superiority. Turning to Mahy's supernatural romances, the article considers novels that might seem to resist the Adlerian template. Focusing, in particular, on the young female protagonists of The Haunting (1982) and The Changeover (1984), it points to the ways in which their magical power is utilised for the sake of others. It concludes with the suggestion that the triumph of Mahy's protagonists lies not so much in their generally celebrated ‘empowerment’, as in their transcendence of the goal of superiority for its own sake.


2011 ◽  
Vol 2011 (1) ◽  
pp. 5-28
Author(s):  
Jens Bonnemann

In ethics, when discussing problems of justice and a just social existence one question arises obviously: What is the normal case of the relation between I and you we start from? In moral philosophy, each position includes basic socio-anthropological convictions in that we understand the other, for example, primarily as competitor in the fight for essential resources or as a partner in communication. Thus, it is not the human being as isolated individual, or as specimen of the human species or socialised member of a historical society what needs to be understood. Instead, the individual in its relation to the other or others has been studied in phenomenology and the philosophy of dialogue of the twentieth century. In the following essay I focus on Martin Buber’s and Jean-Paul Sartre’s theories of intersubjectivity which I use in order to explore the meaning of recognition and disrespect for an individual. They offer a valuable contribution to questions of practical philosophy and the socio-philosophical diagnosis of our time.


2020 ◽  
Vol 10 (3) ◽  
pp. 43-57
Author(s):  
See Seng Tan

Abstract: The longstanding effort to develop a people-based regionalism in Southeast Asia has been shaped by an inherent tension between the liberal inclination to privilege the individual and the community under formation, on the one hand, and the realist insistence on the primacy of the state, on the other. This article explores the conditions and constraints affecting ASEAN’s progress in remaking Southeast Asia into a people-focused and caring community in three areas: disaster management, development, and democratization (understood here as human rights). Arguably, the persistent gap in Southeast Asia between aspiration and expectation is determined less by political ideology than by the pragmatic responses of ASEAN member states to the forces of nationalism and protectionism, as well as their respective sense of local and regional responsibility.Resumen: El esfuerzo histórico para desarrollar un regionalismo basado en las personas del sudeste de Asia ha estado marcado por una tensión fundamental entre la inclinación liberal de privilegiar el individuo y la comunidad y la insistencia realista sobre la primacía del estado. Este artículo explora las condiciones y limitaciones que afectan el progreso de la ASEAN en la reestructuración de Asia sudoriental en una comunidad centrada en el cuidado de las personas en: gestión de desastres, desarrollo y democratización (i.e., derechos humanos). La brecha persistente en el sudeste asiático entre la aspiración y la expectativa está determinada por las respuestas pragmáticas de los miembros de la ASEAN sometidos a las fuerzas del nacionalismo y proteccionismo, así como su respectivo sentido de responsabilidad local y regional.Résumé: L’effort historique pour développer un régionalisme fondé sur les peuples en Asie du Sud-Est a été marqué par une tension fondamentale entre l’inclination libérale qui privilégie, d’une part, l’individu et la communauté et, d’autre part, l’insistance réaliste sur la primauté de l’État. Cet article explore les conditions et les contraintes qui nuisent aux progrès de l’ANASE dans le cadre d’une refonte de l’Asie du Sud-Est en une communauté centrée et attentive aux peuples dans trois domaines : la gestion des désastres, le développement et la démocratisation (en référence aux droits humains). Le fossé persistant en Asie du Sud-Est entre les aspirations et les attentes est vraisemblablement moins déterminé par l’idéologie politique que par les réponses pragmatiques des États membres de l’ANASE soumis aux forces du nationalisme et du protectionnisme ainsi que par leur sens respectif de la responsabilité locale et régionale.


2010 ◽  
Vol 27 (3) ◽  
pp. 1-23 ◽  
Author(s):  
Marie-Luisa Frick

Against the background of the trend of Islamizing human rights on the one hand, as well as increasing skepticism about the compatibility of Islam and human rights on the other, I intend to analyze the potential of Islamic ethics to meet the requirements for vitalizing the idea of human rights. I will argue that the compatibility of Islam and human rights cannot be determined merely on the basis of comparing the specific content of the Islamic moral code(s) with the rights stipulated in the International Bill of Rights, but by scanning (different conceptions of) Islamic ethics for the two indispensable formal prerequisites of any human rights conception: the principle of universalism (i.e., normative equality) and individualism (i.e., the individual enjoyment of rights). In contrast to many contemporary (political) attempts to reconcile Islam and human rights due to urgent (global) societal needs, this contribution is solely committed to philosophical reasoning. Its guiding questions are “What are the conditions for deriving both universalism and individualism from Islamic ethics?” and “What axiological axioms have to be faded out or reorganized hierarchically in return?”


2019 ◽  
Vol 70 (6) ◽  
pp. 2105-2107
Author(s):  
Gheorghita Popa ◽  
Olimpiu L. Karancsi ◽  
Maria Alexandra Preda ◽  
Marius Cristian Suta ◽  
Lavinia Stelea ◽  
...  

Our study aimed to determine pain levels and the state of welfare connected to laser-based procedures in the treatment of patients diagnosed with uncontrolled glaucoma. The study group included 100 eyes of 100 patients diagnosed with glucoma, 50 of them being treated with micropulse transscleral laser cyclophotocoagulation, and the other 50 eyes being treated with continuous transscleral laser cyclophotocoagulation. We used visual analog scale to gather information from each patient. After analysing the individual information the following results were obtained: the pain level for the micropulse transscleral laser cyclophotocoagulation was 60.23 mm, signifying moderate pain; and the pain score for the continuous transscleral laser cyclophotocoagulation was 76.34 mm, corresponding to moderate-intense pain. Pain level generated by minimally invasive laser procedures is discussed.


Author(s):  
Anna Peterson

This book examines the impact that Athenian Old Comedy had on Greek writers of the Imperial era. It is generally acknowledged that Imperial-era Greeks responded to Athenian Old Comedy in one of two ways: either as a treasure trove of Atticisms, or as a genre defined by and repudiated for its aggressive humor. Worthy of further consideration, however, is how both approaches, and particularly the latter one that relegated Old Comedy to the fringes of the literary canon, led authors to engage with the ironic and self-reflexive humor of Aristophanes, Eupolis, and Cratinus. Authors ranging from serious moralizers (Plutarch and Aelius Aristides) to comic writers in their own right (Lucian, Alciphron), to other figures not often associated with Old Comedy (Libanius) adopted aspects of the genre to negotiate power struggles, facilitate literary and sophistic rivalries, and provide a model for autobiographical writing. To varying degrees, these writers wove recognizable features of the genre (e.g., the parabasis, its agonistic language, the stage biographies of the individual poets) into their writings. The image of Old Comedy that emerges from this time is that of a genre in transition. It was, on the one hand, with the exception of Aristophanes’s extant plays, on the verge of being almost completely lost; on the other hand, its reputation and several of its most characteristic elements were being renegotiated and reinvented.


2021 ◽  
Vol 7 (s2) ◽  
Author(s):  
Irmtraud Kaiser ◽  
Andrea Ender

Abstract This paper explores intra-individual variation as a manifestation of language-internal multilingualism in the Central-Bavarian Austrian context. Based on speech data from children and adults in different contexts, we discuss different methods of measuring and analyzing inter-situational variation along the dialect and standard language spectrum. By contrasting measures of dialectality, on the one hand, and proportions of turns in dialect, standard language or intermediate/mixed forms on the other, we gain complementary insights not only into the individual dialect-standard repertoires but also into the consequences of different methodological choices. The results indicate that intra-individual variation is ubiquitous in adults and children and that individual repertoires need to be taken into account from the beginning of the language acquisition process. We suggest that while intra-individual variation can be attested through the use of various methods, the revealed level of granularity and the conclusions that can be drawn as to the individual repertoires on the dialect-standard spectrum largely depend on the measures used and their inherent assumptions and intrinsically necessary categorizations.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yoshitaka Ueno ◽  
Takeshi Iwase ◽  
Kensuke Goto ◽  
Ryo Tomita ◽  
Eimei Ra ◽  
...  

AbstractWe investigated morphological changes of retinal arteries to determine their association with the blood flow and systemic variables in type 2 diabetes patients. The patients included 47 non-diabetic retinopathy eyes, 36 mild or moderate nonproliferative diabetic retinopathy (M-NPDR) eyes, 22 severe NPDR (S-NPDR) eyes, 32 PDR eyes, and 24 normal eyes as controls. The mean wall to lumen ratio (WLR) measured by adaptive optics camera was significantly higher in the PDR groups than in all of the other groups (all P < 0.001). However, the external diameter of the retinal vessels was not significantly different among the groups. The mean blur rate (MBR)-vessel determined by laser speckle flowgraphy was significantly lower in the PDR group than in the other groups (P < 0.001). The WLR was correlated with MBR-vessel (r = − 0.337, P < 0.001), duration of disease (r = 0.191, P = 0.042), stage of DM (r = 0.643, P < 0.001), systolic blood pressure (r = 0.166, P < 0.037), and presence of systemic hypertension (r = 0.443, P < 0.001). Multiple regression analysis demonstrated that MBR-vessel (β = − 0.389, P < 0.001), presence of systemic hypertension (β = 0.334, P = 0.001), and LDL (β = 0.199, P = 0.045) were independent factors significantly associated with the WLR. The increased retinal vessel wall thickness led to a narrowing of lumen diameter and a decrease in the blood flow in the PDR group.


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