Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency.
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Adult↗
Biomedical subjects
L Corda
Publications and source records attributed to L Corda.
Expiratory flow limitation is associated with orthopnea and reversed by vasodilators and diuretics in left heart failure.
BACKGROUND: In patients with acute left heart failure (LHF), orthopnea has also been related to the occurrence or worsening of expiratory flow limitation (EFL) in the supine position. We wished to assess whether short-term treatment with vasodilators and diuretics was able to abolish supine EFL and whether this could help to control orthopnea in patients with acute LHF. METHODS: In nine nonobese (ie, mean [+/- SD] body mass index, 24 +/- 5 kg/m2), never-smoker patients (two men and seven women; mean age, 77 +/- 7 years) with acute LHF (mean ejection fraction, 43 +/- 15%), we assessed EFL by the negative expiratory pressure method and dyspnea by the Borg scale, with patients in both the seated and supine positions, before and after short-term treatment with vasodilators and diuretics until hospital discharge. Orthopnea was defined as a positive difference in the Borg score between measurements made with the patient in the supine and seated positions. Postural variations in the end-expiratory lung volume were inferred from changes in inspiratory capacity (IC) that were measured under the same circumstances. RESULTS: Before treatment, with the patient in the seated position the mean dyspnea score was 1.5 +/- 0.5, the mean IC was 1.49 +/- 0.38 L, seven patients were non-flow-limited, and two patients were flow-limited. During recumbency, the mean dyspnea score was 2.7 +/- 0.5 (p < 0.01 vs seated position values), the mean IC was 1.66 +/- 0.45 L, and seven patients exhibited EFL. After a mean duration of 17 +/- 8 days of treatment (range, 7 to 28 days), EFL was detected in two patients only in the supine position, IC increased both in the seated position (1.65 +/- 0.34 L; p < 0.01) and the supine position (1.81 +/- 0.41 L; p = 0.07) position, and, although only two patients denied orthopnea, the mean dyspnea score during recumbency actually decreased to 1.9 +/- 1.0 (p < 0.05). CONCLUSIONS: Our results indicate that short-term treatment with vasodilators and diuretics is able to control orthopnea and to remove supine EFL in most patients with acute LHF, suggesting a posture-related increase in bronchial obstruction as the main mechanism of EFL, which appears to play a role in the occurrence and severity of orthopnea in these circumstances.
Aged↗
Volume effect and exertional dyspnoea after bronchodilator in patients with COPD with and without expiratory flow limitation at rest.
BACKGROUND: A study was undertaken to investigate whether bronchodilators are associated with less breathlessness at rest and during light exercise in patients with moderate to severe chronic obstructive pulmonary disease (COPD) with resting tidal expiratory flow limitation (EFL; flow limited (FL)) compared with those without EFL (non-flow limited (NFL)). METHODS: Twenty subjects (13 men) of mean (SD) age 65 (8) years (range 43-77) suffering from COPD with forced expiratory volume in 1 second (FEV(1)) 47 (18)% predicted were studied before and after inhalation of salbutamol (400 microg). Routine pulmonary function tests were performed in the seated position at rest. EFL was assessed by the negative expiratory pressure (NEP) method and changes in end expiratory lung volume (EELV) were inferred from variations in inspiratory capacity (IC). Dyspnoea was measured using the Borg scale at rest and at the end of a 6 minute steady state exercise test at 33% of the maximal predicted workload. RESULTS: EFL occurred in 11 patients. Following salbutamol IC did not change in NFL patients but increased by 24% (95% CI 15 to 33) in FL patients (p<0.001). Maximal inspiratory pressure (PImax) improved at EELV from 45 (95% CI 26 to 63) to 55 (95% CI 31 to 79) cm H(2)O (p<0.05) in FL patients after salbutamol but remained unchanged in NFL patients. The workload performed during exercise amounted to 34 (95% CI 27 to 41) and 31 (95% CI 21 to 40) watts (NS) for patients without and with EFL, respectively. After salbutamol, dyspnoea did not change either at rest or during exercise in the NFL patients, but decreased from 0.3 (95% CI -0.1 to 0.8) to 0.1 (95% CI -0.1 to 0.4) at rest (NS) and from 3.7 (95% CI 1.7 to 5.7) to 2.6 (95% CI 1.1 to 4.0) at the end of exercise (p<0.01) in FL patients. CONCLUSIONS: Patients with COPD with EFL may experience less breathlessness after a bronchodilator, at least during light exercise, than those without EFL. This beneficial effect, which is closely related to an increase in IC at rest, occurs even in the absence of a significant improvement in FEV(1) and is associated with a greater PImax.
Administration, Inhalation↗
Alpha-1-antitrypsin deficiency and nephropathy.
Glomerulonephritis occurring in association with alpha(1)-antitrypsin deficiency has been sporadically reported in the literature but it is assumed to be a rare and poorly investigated disease. The complete pathologic pattern of glomerular lesions has not yet been established. The aim of our work was to investigate the correlation between the extent of antiprotease deficiency and the expression of nephropathy evaluated in two groups of patients (47 heterozygotic subjects with the PiMZ phenotype and 12 homozygotic subjects with the PiZZ phenotype) by a noninvasive approach with urinalyses and proteinuria measurement. No statistical differences between proteinuria in the two groups were observed suggesting that nephropathy is not a direct and single expression of the protein deficiency.
Glomerulonephritis↗
Exhaled nitric oxide in patients with PiZZ phenotype-related alpha1-anti-trypsin deficiency.
There is no report of exhaled NO (eNO) in subjects with different phenotypes of alpha1-anti-trypsin (AAT) deficiency. Exhaled nitric oxide was evaluated by means of single-breath chemiluminescence analysis (fractional exhaled concentration at the plateau level [plFE(NO)]) in 40 patients with AAT deficiency. Patients were divided according to the protease inhibitor (Pi) phenotype: PiMZ/MS, n = 25; PiSZ n = 6; PiZZ, n = 9. Nineteen healthy subjects served as controls. Levels of eNO in PiZZ patients were also compared with those of subjects, without AAT deficiency (PiMM), matched for diagnosis, sex, age, smoking habit and forced expiratory volume in 1 sec (FEV1). In AAT deficiency subjects airway hyper-responsiveness to methacholine (PD20 FEV1) was also assessed. plFE(NO) was significantly lower in the PiZZ group (4.5+/-1.4 ppb) than in matched PiMM subjects (8.2+/-3.8 ppb), in healthy controls (9.3+/-2.8 ppb) and in patients of other phenotypes. Dynamic lung volumes and DL(CO) were significantly lower in PiZZ than in other AAT-deficient patients. Bronchial hyper-responsiveness was not different among AAT phenotypes. These results suggest that eNO may be significantly reduced in PiZZ as compared to healthy control subjects and to AAT subjects with other phenotypes, independent of the level of airway obstruction. Whether, at least potentially, eNO may be considered as an early marker of lung involvement in AAT deficiency must be confirmed with studies on larger number of subjects.
Adult↗
Rapid recovery with oral zinc sulphate in deferoxamine-induced presumed optic neuropathy and hearing loss.
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Administration, Oral↗
[Hospital discharge report of patients with chronic obstructive pulmonary disease].
Chronic obstructive pulmonary disease usually doesn't require hospital admission. However, the course of the disease is characterized by frequent exacerbations that often require hospital admission, representing a good chance to define all aspects of chronic obstructive pulmonary disease and improve the management of the patient. When the patient is discharged from the hospital, an essential Report should specify the reasons of admission, the symptoms (e.g.: cough, sputum production and dyspnoea) and the findings of physical examination, the results of the main laboratory and radiological tests performed (pulmonary function tests are essential to define the severity of degree of airway obstruction and useful for its longitudinal assessment), the treatment administered, the final diagnosis, the suggested therapy, the follow-up appointments and the recommendations (nutrition, psychological support, muscle reconditioning) of a possible rehabilitation program.
Humans↗
Exhaled nitric oxide in patients with alpha 1 antitrypsin (AAT) deficiency.
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Breath Tests↗
Ventricular arrhythmias in normotensive subjects and in mild hypertensive patients.
Twenty-five normotensive subjects (14 men, 11 women) aged from 25 to 60 years (mean 36) and 30 untreated patients with mild hypertension (stages 1 and 2, JNC V) without target organ damage (16 men, 14 women), aged 26-59 years (mean 35.8) underwent continuous 24-hour ECG Holter monitoring with a Fukuda Denshi SM-40 ambulatory recorder and SCM-400 ECG analyzer. During 24-hour ambulatory ECG recording, mean heart rate was slightly but not significantly higher in hypertensive patients (73.3 +/- 10 beats per minute [bpm]) in comparison with normotensive subjects (71.2 +/- 12 bpm). The prevalence of premature atrial contractions was similar in the two groups. Total ventricular arrhythmias were more prevalent in the group of mild hypertensive patients (P < 0.05), who also had a higher prevalence in complex forms of ectopy (r = 0.81 for bigeminy; r = 0.83 for trigeminy; r = 0.83 for couplets). Holter recordings did not show abnormalities of ST-T wave or episodes of silent ischemia.
Adult↗
Ambulatory-determined 24-hour blood pressure in mild hypertensives and in normotensives.
Noninvasive ambulatory twenty-four-hour blood pressure (BP) monitoring was carried out in 30 normotensive subjects (16 women, 14 men), aged twenty-five to sixty years (mean thirty-eight) and in 29 mild essential hypertensive patients without target organ damage (14 women, 15 men), aged twenty-three to sixty-one years (mean thirty-nine). Hypertensive patients were not treated, and they discontinued any antihypertensive treatment at least four weeks before the study. During the daytime period (6 AM-10 PM) BP was monitored every fifteen minutes, and during the night (10 PM-6 AM), every thirty minutes. Obviously, mean twenty-four-hour systolic blood pressure (SBP) and diastolic blood pressure (DBP) were higher in hypertensive patients (P < 0.001). There was a persistent correlation in the group of mild hypertensives between successive BP hourly mean readings (r ranged from 0.61 to 0.93 for SBP and from 0.45 to 0.82 for DBP). In normotensive subjects these correlations failed in particular periods: 8 AM-9 AM, r = 0.30 for SBP and 0.45 for DBP; 1 PM-3 PM, r = 0.17-0.49 for SBP and 0.28-0.37 for DBP; 9 PM to midnight, r = 0.21-0.57 for SBP and 0.23-0.38 for DBP.
Adult↗
Kaposi's disease and sarcoidosis.
A human immunodeficiency virus (HIV) antibody-negative 65 year old woman was treated with corticosteroids for 7 yrs because of bilateral uveitis. One year after the beginning of corticosteroid treatment, erythematous skin lesions appeared on the legs. Eight years after the diagnosis of uveitis, gastric and bronchial biopsies revealed noncaseating epithelioid cell granulomas, whilst a cutaneous biopsy showed Kaposi's disease. Sarcoidosis-associated alteration of immune regulation and corticosteroid therapy may have promoted the development of disease.
Adrenal Cortex Hormones↗
Intracranial haemorrhage during exercise testing.
We describe the occurrence of an intraparenchymal (thalamic) haemorrhage during a stress test in a hypertensive 52-year-old man who had suffered from myocardial infarction 3 months earlier. Common causes of spontaneous haemorrhage, such as arteriovenous malformation, aneurysms, neoplasm, bleeding disorders or vasculitis were excluded. This single neurological complication was observed from among 8000 exercise tests performed in our Institute from 1987 to 1993.
Cerebral Angiography↗
Deficiency of two red-cell flavin enzymes in a population in Sardinia: was glutathione reductase deficiency specifically selected for by malaria?
In two areas in Italy where malaria was endemic--in the Po delta and Maremma on the west coast--we have found a high prevalence of an inherited flavin-deficient red cell in the normal population, suggesting selection by malaria. This study in Sardinia enabled a direct comparison of red-cell activities of FAD-dependent glutathione reductase (EGR) and FMN-dependent pyridoxine phosphate (PNP) oxidase in an ethnically homogeneous population, between two coastal villages where malaria was endemic from 300 B.C. and two mountain villages with no history of malaria. Both enzyme activities were significantly lower on the coast, and it did not seem that this could be explained by possible small differences in dietary riboflavin. As was thought to be the case in Ferrara and Grosseto, it is probable that a genetically controlled flavin-deficient red cell was selected for by malaria. Low EGR apoenzyme activity was more common on the coast, usually explaining the accompanying low basic EGR activity, and may also have been selected for by malaria. This adds to evidence from others that the mechanism of defence of a flavin-deficient red cell against malaria may be through EGR deficiency. It could also play a part in the protection given by heterozygous beta-thalassemia. The multifactorial protection of the population against malaria is discussed.
Adolescent↗
[Ambulatory monitoring of blood pressure profiles in in hypertensive patients 26-65 years of age].
We evaluated blood pressure profile in a population of 380 untreated hypertensives (210 males, 170 females, stage 1 and 2 JNC 1993) observed consecutively. A 24-hour ambulatory blood pressure monitoring was performed using and A&D TM 2420 model 6 device programmed to measure systolic and diastolic blood pressure every 15 min from 7 am to 10 pm (daytime) and every 30 min from 10 pm to 7 am (night-time). Statistical analysis was carried out by dividing the patients into four groups on the basis of age: Group I, from 26 to 35 years (26 males, 14 females); Group II, from 36 to 45 years (48 males, 39 females); Group III, from 46 to 55 years (85 males, 72 females); Group IV, from 56 to 65 years (51 males, 45 females). Systolic blood pressure was higher in older male hypertensives (56 to 65 years) who also had a persistent systolic blood pressure elevation during night-time (non-dippers); diastolic blood pressure was significantly higher in male hypertensives aged 36 to 55 years.
Adult↗
[Elevated cardiovascular mortality in subjects over 75 with low values of arterial pressure].
PURPOSE: The purpose of this study was to extend the observations from recent studies that have shown an increased mortality in elderly people with low blood pressure. METHODS: In 1982 we enrolled 88 subjects, 30 males, 58 females, aged 75-90 years, divided into 3 groups, according to their blood pressure and matched for sex, serum cholesterol, smoking and body mass index: Group I: 20 people with blood pressure equal or less than 120/75 mmHg; Group II: 46 subjects with blood pressure level ranging from 130/80 to 145/90 mmHg; Group III: 22 patients with hypertension (blood pressure equal or more than 160/95 mmHg). These three groups were followed for 6 years (1983-1988) to evaluate the mortality from cardiovascular diseases. During this period, no antihypertensive drugs were given, nor did any other treatment significantly modify the value of blood pressure. No patient changed starting group. RESULTS: Mortality from cardiovascular diseases was as follows: Group I: 14 deaths (mean age 82 +/- 5, 8 for heart failure, 2 for myocardial infarction, 4 for stroke); Group II: 8 (p < 0.001 versus Group I, mean age 81 +/- 3, 6 for heart failure, 1 for myocardial infarction, 1 for stroke); Group III: 4 (p < 0.001 versus Group I, mean age 80 +/- 2, 1 for heart failure, 1 for myocardial infarction, 1 for stroke and 1 for sudden death). CONCLUSIONS: This study adds further observations indicating an increase of mortality for cardiovascular diseases in subjects over 75 years with low levels of blood pressure, which could be more dangerous than moderately high levels in older people.
Aged↗
Influence of a new multifactorial antihypertensive on blood pressure and metabolic profile in essential hypertension associated with non-insulin-dependent diabetes mellitus.
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Adrenergic alpha-Antagonists↗
Snoring and risk of cardiovascular disease.
In order to evaluate the possible role played by snoring as a risk factor for cardiovascular disease, we studied 400 patients aged 30-80 years, divided into 4 groups matched for age, sex and body mass index. The first group consisted of 100 patients who snored, having risk factors (hypertension, diabetes, obesity, smoking, high serum cholesterol level) for cardiovascular disease. The second group consisted of 100 non-snoring patients with risk factors. The third and fourth groups were formed by 100 snoring and 100 non-snoring patients without risk factors. We investigated the morbidity and the mortality from cardiovascular disease over a period of five years (1982-1987). An increase in morbidity and mortality was found for snorers with risk factors (36 and 17 respectively) compared to non-snorers with risk factors (10 and 4, P less than 0.001), and also to both snorers and non-snorers without risk factors (7 and 3, P less than 0.001; 3 and 1, P less than 0.001 respectively). No difference was noted between snorers and non-snorers without risk factors. A higher morbidity and mortality for cardiovascular disease was found in snorers with risk factors as compared with non-snorers having risk factors. Furthermore, the morbidity and mortality in patients without risk factors was found to be lower compared with that found in snorers with risk factors. In conclusion, snoring worsened the prognosis of patients with risk factors for cardiovascular disease, but did not represent an independent or predictive risk factor in itself.
Adult↗
Extended release felodipine in essential hypertension. Variations in blood pressure during whole-day continuous ambulatory recording.
Intraarterial blood pressure (BP) monitoring during free ambulation (Oxford technique) was carried out in 12 essential mild-to-moderate hypertensive patients undergoing 4 weeks treatment with felodipine, 10 mg given once daily in an extended release formulation. Compared to placebo, felodipine significantly reduced systolic and diastolic blood pressure throughout 24 h. The greatest reduction was observed at 10 AM, 3 h after drug administration (-32 +/- 6/-24 +/- 5 mm Hg for systolic and diastolic BP, respectively, P less than .001). Hourly BP values remained significantly lower up to and including the 24th hour during felodipine extended release treatment (-18 +/- 5/-11 +/- 3 mm Hg, P less than .001). Felodipine extended release also reduced 24 h blood pressure variability, evaluated on the standard deviation of each hourly mean (from 16.3 +/- 0.9/12.6 +/- 0.6 to 13.4 +/- 0.6/10.4 +/- 0.6 mm Hg, P less than .01). Furthermore, absolute BP values dropped significantly at the peaks of dynamic exercise (bicycle ergometer: from 248 +/- 13/123 +/- 11 to 204 +/- 24/102 +/- 13 mm Hg, P less than .001), isometric exercise (hand grip: from 232 +/- 18/133 +/- 16 to 180 +/- 20/101 +/- 16 mm Hg, P less than .001), and cold pressor test (from 229 +/- 20/127 +/- 14 to 178 +/- 22/99 +/- 15 mm Hg, P less than .001). In conclusion, felodipine extended release exerts a good antihypertensive effect which is maintained for 24 h and reduces the level of blood pressure peaks reached under different physical stresses.
Adult↗