Cardiorespiratory comorbidity: a new challenge for physical and rehabilitation medicine specialist.

BACKGROUND: The cardiorespiratory comorbidity can reduce the participation in the rehabilitation project of patients with motor disorders. AIM: The first aim of the study was to assess the frequency of cardiopulmonary comorbidity in inpatient rehabilitation units in Italy. The second aim was to evaluate the influence of cardiorespiratory comorbidity on some process and outcome indicators. DESIGN: Data collection with a questionnaire sent to Physical and Rehabilitation Medicine specialists. SETTING: Inpatient Rehabilitation Units. POPULATION: Patients admitted to Rehabilitation Units with neurological and orthopedic disability. METHODS: A questionnaire was sent to 33 Rehabilitation Units in Italy. OUTCOME: Length of stay in hospital (LOS), percentage of transfer to acute wards, level of satisfaction of the Physicians related to the degree of functional recovery of patients with cardiopulmonary comorbidity. In a subgroup of patients with and without cardiopulmonary comorbidity indicators were also used to retrospectively assess functional recovery during the hospitalization. RESULTS: Analysis were made on 16 complete responses received. Data of 909 subjects were evaluated. The mean incidence of cardiovascular and respiratory diseases is high: 61.50%. The length of hospitalization (LOS) in patients with cardiac and respiratory comorbidity is significantly longer than in subjects without associated disease (46.55, SD 21.00 days vs. 37.26, SD 18.97; P<0.05). The number of transfers to acute wards is significantly higher in subjects with cardiorespiratory comorbidity (8.62% vs. 2.44%; P<0.05). Eleven out of 16 medical doctors (69%) said they were "quite satisfied" for the degree of functional recovery of patients with comorbidity. A group of patients with neurological disabilities associated with cardiorespiratory disease had significantly lower Functional Independence Measure (FIM) score at admission (55.36, SD 20.62, vs. 73.72, SD 22.15; P<0.05) than these without comorbidity. At discharge the subjects of the two groups assessed, independently from the presence of cardiorespiratory comorbidity, present no statistically significant difference of FIM scale values. CONCLUSION: The high frequency of cardiorespiratory comorbidity in patients with motor disorders negatively influenced the LOS and percentage of transfer to acute wards but not necessarily the functional results. It is, therefore, necessary to train the medical doctor who specializes in physical and rehabilitation medicine also in the clinical management of complex patients. CLINICAL REHABILITATION IMPACT: The results of the survey suggest that rehabilitation is useful even in patients with motor disorders and cardiorespiratory comordibity.

TATA-box mutant in the promoter of the uridine diphosphate glucuronosyltransferase gene in Italian patients with Gilbert's syndrome.

BACKGROUND: A mutation in the promoter of the uridine diphosphate glucuronosyltransferase gene has been described in patients with Gilbert's syndrome from Northern Europe. AIMS: To assess the frequency of this mutation in Italian patients with Gilbert's syndrome and in normal controls, in order to establish the molecular basis and molecular epidemiology of the syndrome in Italy. PATIENTS: Forty-six patients with a clinical diagnosis of Gilbert's syndrome and 44 individuals from the general population unselected for bilirubin levels. METHODS: Polymerase chain reaction amplification of the TATA-box element in the promoter of uridine diphosphate glucuronosyltransferase and identification of wild-type and variant alleles by high-resolution polyacrylamide gel electrophoresis. RESULTS: A TATA-box variant in the promoter of uridine diphosphate glucuronosyltransferase was found on 93% of chromosomes from patients with Gilbert's syndrome. The same variant was present on 44% of chromosomes from controls, unselected for bilirubin levels. Only 55% of controls homozygous for the TATA-box variant, however, had increased bilirubin levels. CONCLUSIONS: The TATA-box variant in the promoter of uridine diphosphate glucuronosyltransferase is strongly associated with the phenotype of Gilbert's syndrome in Italy. The incomplete penetrance of the mutation observed in controls indicates that other acquired or inherited conditions affecting bilirubin production, uptake, cellular transport or excretion may contribute to the hyperbilirubinaemia of Gilbert's syndrome.

The expression of uridine diphosphate glucuronosyltransferase gene is a major determinant of bilirubin level in heterozygous beta-thalassaemia and in glucose-6-phosphate dehydrogenase deficiency.

We evaluated the effect of Gilbert's syndrome, the most common defect of bilirubin conjugation, on the bilirubin levels of subjects with inherited haematological disorders which cause increased bilirubin production. 57 patients heterozygous for beta-thalassaemia, 21 with G6PD deficiency and 44 controls were examined by typing the TATA-box in the promoter of the gene uridine diphosphate glucuronosyltransferase 1A. Nearly 80% of patients with increased bilirubin levels were heterozygous or homozygous for the UGT1A TA(7) variant associated with Gilbert's syndrome. These findings indicate that Gilbert's syndrome accounts for a large proportion of the variability of bilirubin levels in beta-thalassaemia and G6PD deficiency.