Search results for "OTR"
showing 10 items of 6791 documents
Physical activity in adulthood: genes and mortality.
2015
AbstractObservational studies report a strong inverse relationship between leisure-time physical activity and all-cause mortality. Despite suggestive evidence from population-based associations, scientists have not been able to show a beneficial effect of physical activity on the risk of death in controlled intervention studies among individuals who have been healthy at baseline. On the other hand, high cardiorespiratory fitness is known to be a strong predictor of reduced mortality, even more robust than physical activity level itself. Here, in both animals and/or human twins, we show that the same genetic factors influence physical activity levels, cardiorespiratory fitness and risk of de…
Reduced Cerebral Fluoro-l-Dopamine Uptake in Adult Patients Suffering from Phenylketonuria
2007
Deficiency of phenylalanine hydroxylase activity in phenylketonuria (PKU) causes an excess of phenylalanine (Phe) throughout the body, predicting impaired synthesis of catecholamines in the brain. To test this hypothesis, we used positron emission tomography (PET) to measure the utilization of 6-[18F]fluoro-l-dopamine (FDOPA) in the brain of adult patients suffering from PKU and in healthy controls. Dynamic 2-h long FDOPA emission recordings were obtained in seven adult PKU patients (five females, two males; age: 21 to 27 years) with elevated serum Phe levels, but lacking neurologic deficits. Seven age-matched, healthy volunteers were imaged under identical conditions. The utilization of F…
Barotraumatic blowout fracture of the orbit after sneezing: Cone beam CT demonstration.
2018
A 40-year-old man with no history of trauma or previous sinus surgery complained sudden right diplopia after vigorous sneezing. The patient was submitted elsewhere to a MRI study for persisting diplopia, with inconclusive findings. One week later the patient was submitted to a maxillofacial cone beam CT (CBCT) in our Institution. A blowout fracture of the right orbital floor and lateral orbital wall with an intact orbital rim and a ipsilateral maxillary sinus effusion with an air liquid level, were detected at the CBCT study. Our conclusion, confirmed by the clinician, was the patient had a barotraumatic, isolated, pure blowout fracture of the right orbit consequence of the episode of vigor…
Further evidence that D90A-SOD1 mutation is recessively inherited in ALS patients in Italy.
2008
Mutations in the Cu/Zn superoxide dismutase 1 (SOD1) gene have been reported to cause adult-onset autosomal dominant amyotrophic lateral sclerosis (FALS). In sporadic cases (SALS), de novo mutations in the SOD1 gene have occasionally been observed. All the SOD1 mutations are autosomal dominantly inherited with the exception of D90A. To date, in Italy, only two sporadic ALS cases carrying the D90A mutation have been reported in a homozygous state. We investigated for the presence of this mutation in 169 unrelated ALS patients from southern Italy. The genetic analysis revealed three ALS patients (1.8%) with mild phenotype carrying the homozygous D90A mutation.
Accuracy of death certificates for amyotrophic lateral sclerosis varies significantly from north to south of Italy: Implications for mortality studies
2004
<i>Objective:</i> To evaluate the accuracy of death certificates (DCs) for amyotrophic lateral sclerosis (ALS) in different parts of Italy. Studies based on DC diagnosis for ALS have shown a reduced mortality comparing northern with southern Italy. These data are in contrast with results from other surveys on the incidence of ALS performed in Italy and other countries. <i>Methods:</i> Archives of neurological clinics from northern (Milano, Monza, Pavia, and Bologna) and southern Italy including islands (Napoli, Sassari, Palermo, and Messina) were searched for patients discharged with a diagnosis of ALS in the period 1970–1995. Subjects affected by definite/probable A…
Incidence of amyotrophic lateral sclerosis in Sicily: A population based study
2012
Our objective was to investigate incidence of amyotrophic lateral sclerosis (ALS) in Sicily, southern Italy, by means of a population based study. We included people with ALS resident in fi ve Sicilian provinces, whose onset occurred in the two-year period 2005 2006 (population at 31 December 2006: 3,481,096 inhabitants). A multisource case-fi nding procedure was adopted and patients were classifi ed as affected by ALS according to revised El Escorial criteria. During the two-year surveillance period, 97 patients meeting eligibility criteria included 57 males (58.8%) and 40 females (41.2%). Crude annual incidence rate was 1.4/100,000 person years (95% CI 1.33 1.47). The incidence rate was h…
Serum and fecal pancreatic enzymes in beta-thalassemia major
1997
This study, using indirect tests, demonstrated that exocrine pancreatic function is impaired in a proportion of patients with beta-thalassemia major (TM), though this impairment is generally mild or moderate.Impaired structure and function of the exocrine pancreas has been reported in patients with Beta-thalassemia major.In this study we measured fecal fats and serum and fecal pancreatic enzymes in 30 patients (13 M, 17 F) with TM, mean age 22.1 yr (range 14-39) and compared them with those of a matched group of healthy controls. Results were correlated with age, serum ferritin, blood transfusion, and various nutritional parameters. Enzymes assays included: serum pancreatic amylase (PA), li…
Effect of serotonin uptake inhibition by zimelidine on hypothalamic-pituitary-adrenal activity
1983
Plasma ACTH levels after oral ingestion of 2 g metyrapone at 24.00 hours in six healthy subjects were higher after pretreatment with zimelidine (300 mg) in comparison to placebo. Since zimelidine is a relatively selective serotonin reuptake inhibitor its action on hypothalamic-pituitary-adrenal (HPA) activity suggests that serotonin is a potent stimulator of ACTH release. The ratio of cortisol to 11-deoxycortisol was taken as a measure of 11-hydroxylase activity, which indicates biological activity of secreted ACTH. These cortisol/11-deoxycortisol ratios were significantly increased after zimelidine treatment, when compared to placebo. Both the ACTH response and the cortisol/11-deoxycortiso…
Hypothalamic-pituitary-thyroid axis in acromegaly
1983
To evaluate the hypothalamic-pituitary-thyroid axis in acromegaly, total and free thyroid hormones and TSH response to TRH were determined in 36 acromegalic patients. In 10 patients, rT3 and thyroxine binding globulin (TBG) were also assayed by radioimmunoassay. In 15 patients the TSH response to TRH was also studied after medical or surgical therapy of the acromegaly. In 34 patients total thyroid hormones were in the normal range whereas two patients had low serum levels of free thyroid hormones. Thirty-two of the acromegalic patients were euthyroid. However, only 43.7% of the euthyroid patients had a normal TSH response to TRH. Nine patients had a reduced TSH rise after TRH, whereas in 4 …
Adrenal morphology and function in acromegalic patients in relation to disease activity.
2009
Visceromegaly is a common consequence of acromegaly. However, few studies investigated the chronic effects of growth hormone on adrenal glands. Our aim was to evaluate adrenal morphology and function in a cohort of acromegalic patients in relation to disease activity. Twenty-six acromegalics (10 males and 16 females) and 21 healthy subjects were investigated. Gland morphology was evaluated by computerized axial tomography, measuring central, lateral, and medial adrenal segments. Uncontrolled acromegalics showed increased volume of all adrenal segments, higher urinary free cortisol (UFC), and lower morning adrenocorticotropic hormone in comparison with healthy subjects. However, normal corti…