Italian registry of patients with alpha-1 antitrypsin deficiency: general data and quality of life evaluation.

Alpha1-antitrypsin Deficiency (AATD) is a rare hereditary disorder with an estimated prevalence of about 1/5000 individuals in Italy. Deficient patients are at a higher risk of developing lung emphysema and chronic liver disease. The low estimated prevalence of AATD prompted the establishment of a registry with the aim of learning more about the natural history and the quality of care of these patients. The Italian registry for AATD was established in 1996. In this study, genetic and clinical findings of Italian AATD patients are presented. Moreover, we also evaluated the changes in health-related quality of life (HRQoL) in patients with COPD and AAT deficiency over a three-year period, in relation to augmentation therapy. In a period spanning 18 years (1996-2014) a total of 422 adult subjects with severe AATD were enrolled, namely 258 PI*ZZ, 74 PI*SZ, 4 PI*SS and 86 patients with at least one rare deficient allele. The 21.3% frequency for AATD patients with at least one deficient rare variant is the highest so far recorded in national registries of AATD. The registry data allow a detailed characterization of the natural course of the disease and the level of patient care, as well as confirm the usefulness of early AATD detection.

A revised short version of the depression questionnaire.

BACKGROUND: The Depression Questionnaire (QD) is an instrument designed to measure depression in an inpatient-rehabilitation setting. This study proposes a reduced version of the original 24-item QD, to make it better suited to the characteristics of patients in this setting. METHODS: The study population consisted of 801 individuals admitted to cardiac rehabilitation (564 males and 237 females) who had validly completed the original version of the QD. Data were analyzed first through confirmatory factor analysis and then using logistic models. RESULTS: Factor analysis of QD-24 items form, confirmed the plausibility of the monofactorial solution, both for males and females. Factor analysis combined with clinical observation suggested the possibility of reducing the QD to 17 items. Two further items were eliminated through use of simple logistic models. We thus obtained a shortened 15-item version of the QD (QD-R) that maintains a good index of separation (0.80), that is, good capacity to discriminate between individuals with different levels of depression, and a good item-trait interaction (chi(2)153=165.37, P>0.05). A second confirmatory factor analysis applied to the 15-item monofactorial model confirmed the validity of this shortened version of the instrument. The QD-R scores significantly correlated with metres walked during the 6 minute walking test (r=-0.316; P<0.01). CONCLUSION: Combined use of confirmatory factor analysis and simple logistic models together with observations drawn from clinical experience constitutes a valid method for shortening a questionnaire while at the same time maintaining, if not improving, its psychometric properties. The QD-R, seems adequate to how much is required in rehabilitation to point out the outcome, in case of variation of depression, easily to fill in by the debilitated individual or elderly, mainly because some item excessively influenced by the pathology or the hospital context were removed.

Seven-year time course of lung function, symptoms, health-related quality of life, and exercise tolerance in COPD patients undergoing pulmonary rehabilitation programs.

AIM: To evaluate the long-term course of outcome indexes in patients with chronic obstructive pulmonary disease (COPD) undergoing repeated pulmonary rehabilitation programs (PRP). DESIGN: Prospective, observational study. SETTING: Pulmonary Rehabilitation Center. PATIENTS: Forty-eight COPD patients (M 33, age 59.6+/-8.9 years, forced expiratory volume in 1s (FEV(1)) 58+/-16% predicted, DLCO 71+/-17% predicted.) undergoing 5 Day-Hospital based PRPs in a period of 7.2+/-0.8 years. MEASUREMENTS: Lung function, exercise capacity (incremental cycloergometry, test-6-minute walking test (6MWD)), dyspnoea (Baseline-BDI and Transitional-TDI Dyspnoea Index and Medical Research Council score-MRC), health-related quality of life (HRQL) (St. George Respiratory Questionnaire (SGRQ), and the derived BODE index were assessed pre and post each PRP. RESULTS: During follow-up, patients showed a 18+/-22 (mean+/-SEM)ml/year FEV(1) decline (95%CI: -24.4 to 11.6; p<0.001). Exercise tolerance and BDI remained stable over time whereas SGRQ improved (DeltaSGRQ total score: -9.6+/-14%, p<0.001). BODE index significantly worsened (from 1.27+/-1.14 to 1.98+/-1.64; p<0.001), being this change mainly attributable to worsening in FEV(1). Each PRP elicited significant improvement in exercise capacity, dyspnoea, SGRQ and BODE score. Post-PRP improvements in 6MWD, MRC and TDI were higher after the first three than after the last two PRPs (p<0.001), whereas the greatest gain in SGRQ was observed after PRP1 and then it was lower (p<0.03) but stable in the following periods of observation. CONCLUSION: Despite progressive lost in effectiveness of repeated PRP, COPD patients undergoing those programs do not show any significant worsening in exercise tolerance, dyspnoea and HRQL along a period of 7 years.

Impact of Clinical and Quality of Life Outcomes of Long-Stay ICU Survivors Recovering From Rehabilitation on Caregivers' Burden.

BACKGROUND: The objective of this work was to evaluate the time course of clinical and health-related quality of life outcomes of long-stay ICU survivors' and caregivers' burden. METHODS: The study included 23 subjects of mixed diagnosis (66 ± 11 y, body mass index 26.5 ± 5.6 kg/m(2)) with a recent episode of acute respiratory failure needing in-hospital rehabilitation. Subjects and caregivers were evaluated at hospital discharge (T0, n = 23) and 6 months later (T6, n = 16). At T0 and T6, subjects' clinical status (Dependence Nursing Scale), FVC (percent-of-predicted FVC and percent-of-predicted FEV), maximum inspiratory/expiratory pressures, effort tolerance (sit-to-stand, Takahashi test, 6-min walking distance), and disability (Barthel index) were evaluated. EuroQol-5D (EQ-5D), McGill Quality of Life, General Perceived Self-Efficacy Scale, and Hospital Anxiety and Depression Scale (HADS-A/HADS-D) were assessed. Caregivers' burden was measured by the Family Strain Questionnaire short form and Caregiver Needs Assessment. Correlation between subjects' clinical status and caregiver assessments was performed at T0. RESULTS: At T0, subjects showed compromised EQ-5Dindex (0.42 ± 0.28); 69% of caregivers had high Family Strain Questionnaire and moderate Caregiver Needs Assessment scores (30 ± 13). EQ-5Dindex was significantly related to Dependence Nursing Scale score (P < .001), percent-of-predicted FVC (P < .02), effort tolerance (all P < .01), disability (P < .001), and caregiver Family Strain Questionnaire score (P < .02). At T6, subjects significantly improved percent-of-predicted FVC (P < .05), maximum expiratory pressure (P < .01), effort tolerance (all P < .05), disability (P < .02), and EQ-5Dindex (P < .05), whereas caregivers' burden scores were unchanged. However, the percentage of caregivers with strain increased. CONCLUSIONS: In prolonged-ICU-stay survivors, EQ-5Dindex at hospital discharge is related to clinical status and caregivers' strain. Subjects' clinical status and EQ-5Dindex improves over time, but caregivers' burden remains high, suggesting the need to monitor/support caregivers.

A two-year longitudinal study on strain and needs in caregivers of advanced ALS patients.

Our objective was to explore strain and needs in caregivers of advanced ALS patients and correlate this burden with patient's clinical condition and caregiver's sociodemographic status. Fifty-eight caregivers completed the Family Strain Questionnaire-short form (FSQ-SF) and Caregiver Needs Assessment (CNA) during patients' hospitalization (T0); 39 caregivers were reassessed at 6-12 months (T1) and 13 caregivers at 18-24 months (T2) follow-up. FSQ-SF and CNA total scores (CNA-T), including the CNA subscores 'Emotional/Social Support Needs' (CNA-E) and 'Information/Communication Needs' (CNA-I), were compared to patients' clinical condition (measured by ALSFRS-R and FVC %) and caregivers' sociodemographic status. Results showed that high strain level was found in 80% of caregivers and persisted over time. At T0, CNA-T was moderate and was not correlated to site of ALS onset, patients' clinical variables, or caregiver's sociodemographic characteristics; CNA-I subscore was significantly correlated to bulbar onset. CNA-T and CNA-I were significantly reduced at T1 (both, p < 0.01). Caregivers' parental relationship to patient (filial) and working status influenced caregivers' needs. After a longer follow-up (T2), CNA-E significantly decreased vs. T0 score (p < 0.02). In conclusion, over time, caregivers of advanced ALS patients show persisting high strain while needs decline, although the level still remains high. Further studies are needed to propose the most appropriate support.

Cognitive and perceived health status in patient with chronic obstructive pulmonary disease surviving acute on chronic respiratory failure: a controlled study.

OBJECTIVE: To evaluate the perceived health and cognitive status in survivors of chronic obstructive pulmonary disease (COPD) exacerbations requiring mechanical ventilation. DESIGN AND SETTING: Prospective controlled cohort study in a respiratory intermediate intensive care unit. PATIENTS: Sixty-three COPD patients at their first episode of acute on chronic respiratory failure requiring mechanical ventilation, controls were 34 consecutive stable COPD patients on long-term oxygen therapy with no previous ICU admission. MEASUREMENTS AND RESULTS: Perceived health and cognitive status by means of the Nottingham Health Profile (NHP) and the Mini Mental State (MMS), respectively, at discharge and 3 and 6 months thereafter. At discharge patients showed significantly worse mean values than controls in MMS and in all NHP dimensions except pain. The MMS score was below 24, the threshold level of cognitive impairment, in 43% patients of the study group but only 3% of controls ( p=0.006). Six months after discharge patients showed NHP and MMS values similar to those of controls and the proportion of patients with a MMS score below 24 had significantly decreased to 17%, a value not significantly different from that in controls (5%). CONCLUSIONS: COPD patients surviving their first episode of acute on chronic respiratory failure requiring mechanical ventilation, suffer worsen perceived health status and cognitive function, which 6 months after discharge may improve to levels similar to those in stable COPD patients on long-term oxygen therapy with no previous ICU admission.

A pilot trial of telemedicine-assisted, integrated care for patients with advanced amyotrophic lateral sclerosis and their caregivers.

Patients with amyotrophic lateral sclerosis (ALS) need a care programme as the disease progresses. We used telemedicine-assisted integrated care (TAIC) in 40 patients with ALS, for a mean duration of 8.6 months (range 1-12). A nurse-tutor played the key role, supported by respiratory physicians, neurologists and psychologists. Each patient used a portable pulse oximeter during the daily telephone contacts to assess clinical/oxygen variations. Patients also completed a satisfaction questionnaire. During the study period, each patient used TAIC at least five times per month. There were 1907 scheduled telephone calls (86% of the total) and 317 unscheduled calls. Of the unscheduled calls, 84% were managed by the nurse-tutor and only 16% of them required specialist intervention. The most common item was the ALS clinical interview (58%), followed by the description of acute symptoms, cough ability and oxygenation. TAIC staff recommended 4 out of 12 emergency hospital admissions (33%) and 77% of the other hospitalizations. Patients and caregivers were extremely satisfied (79%) with the nurse assistance provided and the patients' confidence in handling their disease improved in 71% of the cases. TAIC provides a nurse-centred, home-monitoring programme that can be a useful way of following up ALS patients.