Sindrome da delezione 22q11.2: studio della funzionalità cardiopolmonare in pazienti non cardiopatici

ABSTRACT Introduzione: La delezione 22q11.2 è una sindrome genetica causata da una microdelezione del braccio lungo del cromosoma 22, caratterizzata da un’alta variabilità fenotipica e, in circa l’80% dei casi, si accompagna ad una cardiopatia congenita. Il paziente con la del22q11 è un paziente difficile da gestire, soprattutto per le numerose condizioni mediche associate, anche di tipo neuropschiatrico. Si tratta, spesso di pazienti in sovrappeso, obesi, con ritardo mentale, psicosi, dismorfie facciali e problemi nel linguaggio e nella comunicazione. Tutti questi fattori favoriscono l’isolamento sociale e uno stile di vita sedentario. STUDIO I Obiettivo: L’obiettivo dello studio è stato quello di valutare la funzionalità cardiorespiratoria e la tolleranza all’esercizio fisico in soggetti adolescenti e in età adulta affetti dalla sindrome da del22q11 senza cardiopatia congenita, confrontandoli con un gruppo di controllo. Metodi: Lo studio ha coinvolto 20 soggetti affetti dalla del22q11 senza cardiopatia congenita, 16 maschi e 4 femmine, con un’età media di 27,44 ± 9,43 (range 14,7- 46,5 anni). I dati ottenuti sono stati confrontati con quelli di un gruppo di controlli equivalente, costituito da 22 soggetti. Tutti i soggetti arruolati hanno eseguito spirometria, test cardiopolmonare e valutazione del QI. Risultati: Spirometria: si è evidenziata una riduzione significativa e omogenea del FEV1 e del FVC (p < 0,0001) con un rappo 6 dati sono indicativi di una sindrome restrittiva nei soggetti con del22q11. Valori più bassi del FEV1 si sono registrati nei 12 pazienti sindromici con scoliosi. Test cardiopolmonare: i valori medi del consumo massimale di ossigeno (VO2max) e gli equivalenti metabolici (METS) sono risultati più bassi nei soggetti sindromici (del22q11) rispetto ai controlli (C). Per quanto riguarda la durata dell’esercizio (ET), si è riscontrato un valore medio confrontabile nei due gruppi, nonostante vi sia una relazione lineare tra l’ET e il QI dei pazienti del22q11. Nessun paziente, durante il test, ha mostrato segni di sofferenza cardiaca, aritmie o una sintomatologia sforzo correlata. Conclusioni: L’alterata funzionalità respiratoria può essere correlata a problematiche relative alla sindrome, come la scoliosi e le anomalie delle vie aeree. I bassi valori di VO2Max sono il risultato di una scarsa attività fisica ed uno stile di vita sedentario, evidenziato nel 90% dei pazienti del22q11 arruolati. Interventi multispecialistici e un regolare esercizio fisico, possono contribuire a migliorare la fitness cardiorespiratoria, il benessere fisico e mentale e, quindi, la qualità della vita in questi pazienti. STUDIO II Obiettivo: L’obiettivo dello studio e stato quello di valutare la funzionalità cardiaca in soggetti adolescenti e adulti affetti dalla Sindrome da del22q11 senza cardiopatia congenita, confrontandoli con un gruppo di controllo. Metodi: Lo studio ha coinvolto 21 soggetti con diagnosi genetica di del22q11 senza cardiopatia congenita, 16 maschi e 5 femmine, con un’eta media di 22,61 anni. I dati ottenuti sono stati confrontati con quelli di un gruppo di controlli equivalente, costituito da 14 soggetti sani. Tutti i soggetti arruolati hanno eseguito ecocardiografia color-doppler transtoracica. Risultati: Dallo studio ecografico e risultato che tutti i pazienti con del22q11.2 hanno valori che rientrano nella norma. Nel complesso però, del gruppo di studio con del22, sono state registrate variazioni statisticamente significative per i valori M-mode del setto interventricolare e degli indici di massa ventricolare sinistra, nonche, al Tissue Doppler Imaging, vi sono variazioni di alcuni valori del flusso transmitralico, che possono far pensare ad una disfunzione diastolica in fase subclinica. Si e ipotizzato che queste alterazioni possano essere dovute a quattro fattori: -disfunzione mitocondriale a livello cardiaco -alterazione dei vasi linfatici cardiaci -anomalie delle coronarie -alterazione del sistema nervoso autonomo e conseguente tono vascolare anomalo. Conclusioni: I pazienti con del22q11 hanno una funzione ventricolare sostanzialmente normale. Nonostante ciò, sono state riscontrate, per alcuni valori, differenze significative tra i due gruppi che dovranno essere indagate per capirne le cause e per impostare dei programmi di follow-u

Psychological factors in childhood asthma

Objectives: The aim of this study is to evaluate psychological aspects of childhood asthma and the connections between the illness and behavioral disturbances in asthmatic children. Study design: We selected a group of 47 asthmatic children and a control group of 47 healthy children. The only criterion for inclusion was that the children be between 4 and 10 years of age; criteria for exclusion were neurological pathologies, cognitive retardation, and serious or chronic systemic disease. The collaboration of a psychologist and a comparative examination of questionnaires used in medical literature helped us prepare a calibrated questionnaire for our study. Results: In our study, the asthmatic children show significantly more behavioral and psychological disturbances than the children in the control group. Conclusions: Within the group of asthmatic children the boys and the children whose illness has lasted less than 4 years, are at greater risk of such disturbances; stressful situations connected to the birth or previous pregnancies can be seen more often in the group of asthmatic children than in the control group; before the onset of the illness the asthmatic children had significant sleep disturbances

Cardiorespiratory fitness and sports activities in children and adolescents with solitary functioning kidney

Background: An increasing number of children with chronic disease require a complete medical examination to be able to practice physical activity. Particularly children with solitary functioning kidney (SFK) need an accurate functional evaluation to perform sports activities safely. The aim of our study was to evaluate the influence of regular physical activity on the cardiorespiratory function of children with solitary functioning kidney. Method: Twenty-nine patients with congenital SFK, mean age 13.9 ± 5.0 years, and 36 controls (C), mean age 13.8 ± 3.7 years, underwent a cardiorespiratory assessment with spirometry and maximal cardiopulmonary exercise testing. All subjects were divided in two groups: sedentary (S) and trained (T) patients, by means of a standardized questionnaire about their weekly physical activity. Results: We found that mean values of maximal oxygen consumption (VO2max) and exercise time (ET) were higher in T subjects than in S subjects. Particularly SFK-T presented mean values of VO2max similar to C-T and significantly higher than C-S (SFK-T: 44.7 ± 6.3 vs C-S: 37.8 ± 3.7 ml/min/kg; p < 0.0008). We also found significantly higher mean values of ET (minutes) in minutes in SFK-T than C-S subjects (SFK-T: 12.9 ± 1.6 vs C-S: 10.8 ± 2.5 min; p <0.02). Conclusion: Our study showed that regular moderate/high level of physical activity improve aerobic capacity (VO2max) and exercise tolerance in congenital SFK patients without increasing the risks for cardiovascular accidents and accordingly sports activities should be strongly encouraged in SFK patients to maximize health benefit

T-helper 17 lymphocytes in ocular cicatricial pemphigoid

T-helper 17 lymphocytes (Th17) were identified in the healthy conjunctiva and in patients with ocular cicatricial pemphigoid (OCP), a disease characterized by chronic ocular surface inflammation

Therapeutic effect of topical 5-fluorouracil in conjunctival squamous carcinoma is associated with changes in matrix metalloproteinases and tissue inhibitor of metalloproteinases expression

To evaluate matrix metalloproteinases (MMP)-2, MMP-9, and tissue inhibitor of metalloproteinase (TIMP)-1 expression in a case of conjunctival intraepithelial squamous cell carcinoma (SCC) treated with topical 5-fluorouracil (5-FU) chemotherapy

Relationship between chlorinated pools and bronchial asthma

[No abstract available

Investigating knowledge, attitudes, and practices regarding vaccinations of community pharmacists in Italy

The purposes of this cross-sectional study were to determine the level of knowledge, attitudes, and behaviors related to vaccinations among community pharmacists in Italy and to understand the characteristics associated with the different outcomes of interest. The data were collected between September 2018 and April 2019 using semi-structured telephone interviews among a nationally representative sample of community pharmacists. Out of 550 pharmacists who were contacted, a total of 389 responded yielding a response rate of 70.7%. Only 23.9% indicated correctly all ten mandatory vaccinations for newborn. Participants with a lower number of years since degree, employee compared to owners, those who often/always collected information about public’s immunization, and who have received information from educational activities were more likely to know all ten mandatory vaccinations for newborn. Almost all (91.7%) believed that they could play a prominent role in the educational interventions on vaccinations and 75.3% that they should be more engaged in these interventions. Only 23.7% had recommended HPV vaccine to 11–12 years-old adolescents. Pharmacists who have obtained information from educational activities, who knew all ten mandatory vaccinations for newborn, and who believed that they should be more engaged in vaccination interventions were more likely to recommend the vaccine. The HPV vaccine was less likely recommended by those who have obtained information from scientific journals, mass-media and internet, and educational activities compared to those who have not received any information, who worked a higher number of hours per week, who often/always collected data on immunization, and employee pharmacists compared to owners. The findings may be useful to design interventions that can overcome the knowledge gaps of community pharmacists and to improve vaccine recommendations

The Knowledge, Attitudes, and Practices of Community Pharmacists in their Approach to Antibiotic Use: A Nationwide Survey in Italy

Background: This investigation has been carried out to evaluate the knowledge, attitudes, and practices toward antibiotic resistance and antibiotic use among community pharmacists in Italy and to investigate their influencing factors. Methods: A cross-sectional telephone survey using a semi-structured interview was performed between September 2018 and April 2019 among a random sample of community pharmacists. Results: Almost two thirds (61.5%) correctly answered that the overuse of antibiotics in primary care, hospital settings, and veterinary medicine is a significant cause of antibiotic resistance. Males, those who worked a lower number of hours per week, and those who acquired information through scientific journals and educational activity were more likely to know that the overuse of antibiotics causes antibiotic resistance. More than two thirds of those pharmacists (70.8%) often or always inform the public about the risks of antibiotic resistance. Those who have been practicing for a higher number of years were more likely to act in that way, whereas pharmacy directors and those who did not need additional information on antibiotic resistance were less likely to inform the public. Conclusions: Pharmacists need to be aware of the issue of antibiotic resistance and policy makers should promote the implementation of antibiotic use public educational interventions in this setting