Porpora trombotica trombocitopenica (PTT) o sindrome di Moschowitz: una vera urgenza ematologica

Summary Introduction Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by congenital or inherited disorders involving the processing of the ultra-large forms of von Willebrand factor. As a result, platelet-rich microthrombi form in the small arterial vessels of various organs, particularly those of the brain, heart, and kidneys. The idiopathic autoimmune form of TTP is the most common. There are various subgroups of acquired TTP associated with HIV infection, sepsis, pregnancy, autoimmune disease, various disseminated malignancies, and drugs. If not promptly treated, TTP is associated with high mortality, making it a true medical emergency. Materials and methods The article is based on a review of the literature published between January and October of 2009. Its aim is to clarify the diagnosis, treatment, and follow-up of TTP. Results Diagnostic criteria include the presence of microangiopathic hemolytic anemia associated with thrombocytopenia in the absence of other obvious causes. Assays of ADAMTS13 activity and titration of acquired antibodies against this enzyme are indicated in the follow-up of disease and as prognostic indicators. Treatment centers around daily plasma exchange associated with immunosuppressant drug therapy, particularly steroids and more recently the monoclonal anti-CD20 antibody rituximab. Discussion Despite improved treatment, TTP is still associated with significant mortality (10–20%), particularly when plasma exchange is initiated late. Relapse also occurs in a substantial proportion of patients (10–40%) although the frequency of this outcome may be reduced by rituximab therapy

The Impact of Different Types of Assistive Devices on Gait Measures and Safety in Huntington's Disease

BACKGROUND: Gait and balance impairments lead to frequent falls and injuries in individuals with Huntington's disease (HD). Assistive devices (ADs) such as canes and walkers are often prescribed to prevent falls, but their efficacy is unknown. We systematically examined the effects of different types of ADs on quantitative gait measures during walking in a straight path and around obstacles. METHODS: Spatial and temporal gait parameters were measured in 21 subjects with HD as they walked across a GAITRite walkway under 7 conditions (i.e., using no AD and 6 commonly prescribed ADs: a cane, a weighted cane, a standard walker, and a 2, 3 or 4 wheeled walker). Subjects also were timed and observed for number of stumbles and falls while walking around two obstacles in a figure-of-eight pattern. RESULTS: Gait measure variability (i.e., coefficient of variation), an indicator of fall risk, was consistently better when using the 4WW compared to other ADs. Subjects also walked the fastest and had the fewest number of stumbles and falls when using the 4WW in the figure-of-eight course. Subjects walked significantly slower using ADs compared to no AD both across the GAITRite and in the figure-of-eight. Measures reflecting gait stability and safety improved with the 4WW but were made worse by some other ADs

Thrombotic thrombocytopenic purpura (TTP) or Moschowitz syndrome: a true hematologic emergency

Introduction: Thrombotic thrombocytopenic purpura (TTP) is a thrombotic microangiopathy caused by congenital or inherited disorders involving the processing of the ultra-large forms of von Willebrand factor. As a result, platelet-rich microthrombi form in the small arterial vessels of various organs, particularly those of the brain, heart, and kidneys. The idiopathic autoimmune form of TTP is the most common. There are various subgroups of acquired TTP associated with HIV infection, sepsis, pregnancy, autoimmune disease, various disseminated malignancies, and drugs. If not promptly treated, TTP is associated with high mortality, making it a true medical emergency. Materials and methods: The article is based on a review of the literature published between January and October of 2009. Its aim is to clarify the diagnosis, treatment, and follow-up of TTP. Results: Diagnostic criteria include the presence of microangiopathic hemolytic anemia associated with thrombocytopenia in the absence of other obvious causes. Assays of ADAMTS13 activity and titration of acquired antibodies against this enzyme are indicated in the follow-up of disease and as prognostic indicators. Treatment centers around daily plasma exchange associated with immunosuppressant drug therapy, particularly steroids and more recently the monoclonal anti-CD20 antibody rituximab. Discussion: Despite improved treatment, TTP is still associated with significant mortality (10—20%), particularly when plasma exchange is initiated late. Relapse also occurs in a substantial proportion of patients (10—40%) although the frequency of this outcome may be reduced by rituximab therapy

Migliorare le abilití di counseling in un gruppo di studenti del corso di laurea in infermieristica di Torino: uno studio pilota

Introduzione: Le Counseling Skills vengono considerate importanti competenze cosí¬ come quelle tecnico operative. L'atteggiamento empatico è alla base di una relazione di cura. E' fondamentale pertanto sviluppare percorsi di approfondimento di tali abilití  gií  dalla formazione accademica. Obiettivo: valutare il miglioramento di alcune competenze relazionali a seguito di un intervento formativo di Counseling. Materiali e Metodi: studio pilota con disegno pre-post test multicentrico, con un campione di convenienza di 65 studenti. L'intervento formativo è stato articolato in tre livelli consecutivi nell'arco di sei mesi per un totale di sei giornate. E' stato utilizzato la Balance Emotional Empathy Scale (BEES) per misurare le capacití  empatiche possedute dal campione, mentre per misurare il miglioramento delle Counseling Skills, in particolare la capacití  di riformulazione (tecnica base del Counseling) una batteria di 20 colloqui tra professionista sanitario ed un ipotetico interlocutore. Risultati: hanno partecipato all'intervento formativo 62/65 studenti. Il campione è composto prevalentemente da femmine (84%) e l'etí  media è di 23 anni. Il valore medio del BEES è di 41 punti (± DS 11.5): valore che non correla ne con etí  ne con genere. Prima del corso di Counseling (PRE) la maggior parte degli studenti individua come strategia relazionale idonea per far fronte a problemi educativi quella investigativa (347 risposte, il 27%), identificata come quella meno funzionale ad una corretta relazione ed a seguire quella risolutiva. Al termine (POST) invece rispondono al problema con strategie quasi esclusivamente comprensive (90% delle risposte vs 18% del pre). Conclusioni: Un percorso formativo di Counseling sembra migliorare negli studenti di Infermieristica l'abilití  nell'utilizzare strategie di comprensione per far fronte a problematiche di carattere educativo di una persona assistita.Parole chiave: counseling, empatia, studenti infermieri, formazione infermieristica,educazione  Improving conseling skills in nursing students of turin university: a pilot studyABSTRACTBackground: Although communication and counseling skills are essential for nursing profession, specific educational program are not so widespread. Aim: Evaluation of the improvement of Counseling skills as a result of a specific training. Methods: A multi-center pilot study with pre-post test design with a convenience sample of 65 students was carried out. The Counseling training consisted in three consecutive levels over a period of six months for a total of six days. To measure the ability of reformulation, basic tool of Counseling, a questionnaire was used with 20 interviews (hypothetical interview between health professional and patient). Results: 62 students participated. The sample is composed mainly by females (84%), the average age is 23 years. The average value of BEES (level of empathy) is 41 points (± SD 11.5), the value does not correlate with age nor gender. Before the training (PRE) most of the students identified as the most suitable approach/strategy to deal with educational problems that investigative (347-27%) and the relational one. At the end of intervention (POST) most of the students used a comprehension approach/strategy (90% of the responses), opposed to before the course (18%). Conclusion: The training course, shows to lead to a significant improvement in using comprehension strategies to deal with issues of educational assistance of clients. Keywords: counseling, empathy, student nurse, nurse education, health educatio

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50-70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families