1,721,171 research outputs found
Unmet needs on the management of COVID-19 vaccination in patients with neuromuscular disorders
No full textCOVID-19 outbreak has quickly reached alarming morbidity and mortality with vaccines being the only weapon to fight. Although the critical situation, no international guidelines on the vaccination management of patients with neuromuscular disorders (NMDs) has still been issued. We aimed to address some unmet needs about the management of COVID-19 vaccination in patients with NMDs
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
The Health Relationship in the context of genetic Counselling: The communication of risk and decision making processes
No full textThe prenatal or preconception genetic counseling may represent a key step for those who cope with reproductive choices in genetic risk situations (Kessler, 1997; Uhlmann, Schuette and Yashar, 2009; Freda, Zaccaro, Gleijeses and Politano, 2010). Over the last four decades, advances in genetic knowledge and the opportunities for geneticist to learn about their genetic risk have led to renegotiate notions, such as health and illness and, specifically, the conception of life and procreation which have several implications in ethical issues and in clinical practice.
The current investigation focuses on ultimate experience of genetic counselling in prenatal or preconception setting. The aim is to explore the processes of significance about the consequences of communication of risk within one month to the end of genetic counseling intervention in order to hypothesize research-intervention projects which involve medical and psychological profession in a joint setting. Participants are all attending Cardiomyology and Medical Genetics counseling in Naples (Italy) for the first time. Transcripts of 18 semi-structured interviews were conducted and then analysed by Interpretative Phenomenological Analysis (Smith, 2004; Smith, Flowers and Larkin, 2009).
Through this approach, three super-ordinate themes were identified: the familiar outcomes of genetic counselling; the representation of risk and the vicissitudes of decision-making. In prenatal and reproductive scenarios, we hypothesize the sole choice to request genetic counseling can have several consequences on family and inter-/intra-generational ties. In such context, the counselor???s task is to introduce the information as a new source of sense-making and to accompany the use of this information so that the proband???s personal sense of control became more powerful, in managing the decision-making processes. In our opinion, the psychological function can play a central role in an integrated perspective with the medical function. As discussed in other articles (Zaccaro and Freda, 2011; 2012), we wish that the psychologist could take part in the whole temporal context of the process of genetic counseling (pre-test, test, post-test, follow-up) (Laurent, Croupier and Pujol, 2006; Léger, Dauchy and Chompret, 2006) and that, from the pre-counseling step to the follow-up, could contribute to the achievement of protecting and promoting health (Bertini, 2004)
La distrofia muscolare di Duchenne nel racconto delle madri
No full textL’attuale Psicologia della Salute mira ad operazionalizzare il modello biopsicosociale allargando la prospettiva sulla persona ammalata, intesa nella sua totalità mente-corpo e nella sua rete di relazioni. Per ricostruire e comprendere l’esperienza di malattia è particolarmente preziosa la narrazione dei protagonisti, ammalati, familiari, amici, operatori sanitari che, raccontando, danno significato agli eventi traumatici (Good, 1999; Bruner, 2002; Parrello, 2008).
Ipotesi e obiettivo. La Distrofia Muscolare di Duchenne è una malattia genetica a carattere progressivo, trasmessa dalla madre al figlio maschio, attualmente non curabile. Partendo dall’ipotesi che le madri con figli affetti da DMD abbiano grandi difficoltà ad elaborare il trauma, sia a livello simbolico, data la peculiarità del modello di trasmissione genetica, sia a livello materiale, data la disabilità grave che ne consegue, obiettivo di questo studio è l’analisi della modalità narrative attraverso cui queste donne ricostruiscono la loro esperienza: ascoltare, individuare e riconoscere le loro difficoltà è il primo passo di qualsiasi progetto di intervento terapeutico.
Partecipanti e metodo. Sono state intervistate, con garanzia di anonimato, 10 madri (età 30-59 anni; estrazione culturale media), con figli affetti da DMD (età 5-19 anni). Ogni intervista narrativa, svoltasi presso una struttura sanitaria pubblica, grazie alla collaborazione della UILDM, è stata registrata e trascritta. Il corpus testuale è stato sottoposto ad analisi semantico-strutturale con software Alceste (Reinert, 1993).
Risultati. L’analisi testuale ha individuato sei mondi lessicali: 1. Il sospetto e la colpa (13%), 2. Non è facile (e la gente non è di aiuto) (15%), 3. Accudire: un dovere continuo (38%), 4. Il calendario della malattia (13%), 5. I disagi dell’anormalità (11%), 6. Un futuro impossibile (9%). L’Analisi fattoriale delle corrispondenze ha estratto due fattori: temporale (passato-futuro) e spaziale (dentro-fuori).
Commenti. Il trauma della comunicazione della diagnosi di DMD attiva nelle madri acuti sensi di colpa che non sembrano evolversi col tempo, a cui si aggiungono le sofferenze per una preoccupazione materna primaria che pare infinita, a causa delle difficoltà di separazione da un figlio sempre meno autonomo durante il suo sviluppo e che ad ogni snodo significativo rinnova il trauma (Dondi, 2008). A queste fatiche psichiche si aggiungono quelle fisiche all’accudimento, quasi totalmente affidato alle madri. Il dolore causato dalla malattia sembra così impregnare tutta la loro vita, con conseguenti cambiamenti nelle relazioni, negli affetti, nella considerazione del sé e nel ritmo delle attività; la prospettiva futura scompare (Tesio, 2003; Gardrou, 2006; Parrello, Caruso, 2006)
The heart and cardiac pacing in Steinert disease.
No full textMyotonic dystrophy (Dystrophia Myotonica, DM) is the most
frequently inherited neuromuscular disease of adult life. It is
a multisystemic disease with major cardiac involvement. Core
features of myotonic dystrophy are myotonia, muscle weakness,
cataract, respiratory failure and cardiac conduction abnormalities.
Classical DM, first described by Steinert and called
Steinert’s disease or DM1 (Dystrophia Myotonica type 1) has
been identified as an autosomal dominant disorder associated
with the presence of an abnormal expansion of a CTG trinucleotide
repeat in the 3′ untranslated region of DMPK gene on
chromosome 19. This review will mainly focus on the various
aspects of cardiac involvement in DM1 patients and the current
role of cardiac pacing in their treatment
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