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Background The aims of this study were: to investigate the capacity of the rare disease healthcare network in Campania to diagnose patients with rare diseases during the outbreak of Covid-19; and to shed light on problematic diagnoses during this period. Methods To describe the impact of the Covid-19 pandemic on the diagnosis of patients with rare diseases, a retrospective analysis of the Campania Region Rare Disease Registry was performed. A tailored questionnaire was sent to rare disease experts to investigate major issues during the emergency period. Results Prevalence of new diagnoses of rare disease in March and April 2020 was significantly lower than in 2019 (117 versus 317, P Conclusions This study describes the effects of the Covid-19 outbreak on the diagnosis of rare disease in a single Italian region and investigates potential issues of diagnosis and management during this period.

The study examined whether indexing glomerular filtration rate (GFR) for body surface area is appropriate for people who are severely overweight. Twenty normotensive adult men who were severely overweight but without microalbuminuria were enrolled into this study. The control group consisted of 20 healthy subjects matched for age, sex, and height. GFR was determined by measuring insulin with the continuous-infusion method. The clearance of endogenous creatinine was also measured after two daily urine collections. Renal plasma flow (RPF) was measured by p-aminohippurate clearance using the continuous-infusion method. Lean body weight was measured by impedentiometry. Adjusting for body surface area (in 1.73 m(2)) caused a significant reduction in GFR (P0.0001) in overweight humans (84.1 +/- 2.32 versus 109.6 +/- 3.07 mL/min/1.73 m(2)). The difference disappeared when GFR/height criteria were adopted. No difference between obese and healthy controls occurred after adjusting for lean body weight. Data for creatinine clearance paralleled those with insulin clearance; a significant reduction (P0.001) occurred after indexing for basal surface area, which disappeared after correction for height, as well as for lean body weight.

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This article starts with a concise synopsis of the history of edema. The role of underfilling, overflow, antidiuretic hormone, and acquaporins is subsequently discussed. Emphasis is given to the use of diuretics in edematous patients. The role and risks of albumin infusion are illustrated. The new hypothesis of pulse reverse osmosis is discussed. The final section deals with the measurement of colloid osmotic pressure in the clinical setting. Copyright © 2001 by W.B. Saunders Company.

A randomized controlled trial was set up to assess the effect of two different therapy regimens with lymphoblastoid interferon on the treatment and follow-up of patients with chronic C hepatitis.Eighty-five patients with chronic hepatitis C were randomized into two treatment groups (n = 30 respectively) and one control group (no treatment: n = 25). In one treatment group patients received three million units of alpha-lymphoblastoid interferon. The other received six million units.A rapid decline in both alanine aminotransferase and aspartataminotransferase levels was seen in most treated patients (a complete response in 51% from group A and 55% from group B; partial response 29% from group A, 25% from group B). In five partial responders and six complete responders from group A and in seven partial responders and six complete responders in group B serum aminotransferase levels returned to baseline values in the follow-up. No change in serum bilirubin, albumin, IgG and prothrombin time during interferon treatment were seen. The histologic staging remained unchanged throughout the entire study.alpha-interferon treatment improves the clinical picture, biochemical parameters and histologic pattern in a large percentage of patients with hepatitis C. Long-term remission was seen in only 37% of treated patients. Using six million units of alpha-interferon has not proven to be significantly better than three million units. Protracted treatment for nine months seems to increase the percentage of patients in biochemical and histologic remission.

OBJECTIVE To explore the possible link between diabetic nephropathy and the enhanced activity of the polyol pathway, known to occur in IDDM subjects. RESEARCH DESIGN AND METHODS We studied the effects of the aldose reductase inhibitor tolrestat (200 mg/day) on urinary albumin excretion rate and glomerular filtration rate in 20 IDDM patients with diabetic nephropathy. RESULTS Six months of placebo treatment produced no significant changes in glomerular filtration rate, urinary albumin excretion rate, and renal plasma flow. Consequently, filtration fraction remained unchanged. During tolrestat treatment, glomerular filtration rate decreased from the basal value of 156 ± 14 ml·min−1.73 m2 to 142 ± 13.7 ml·min−1·1.73 m2 (P < 0.001) at 2 mo; 128 ± 12.4 ml·min−1·1.73 m2 (P < 0.001) at 4 mo; and 123.7 ± 13.0 ml·min−1·1.73 m2 at 6 mo. A significant decrease of urinary albumin excretion rate was observed during the trial (basal values 219 ± 32.5 vs. 196.9 ± 28.5 μg/min at 2 mo [P < 0.05] 171.6 ± 25.5 μg/min at 4 mo [P < 0.001] and 58.6 ± 19.3 μg/min at 6 mo [P < 0.001]). No significant change in renal plasma flow was seen during tolrestat treatment. Filtration fraction significantly decreased in the tolrestat group from the basal value of 0.23 ± 0.02 to 0.21 ± 0.01 at 2 mo (P < 0.005); 0.18 ± 0.02 at 4 mo (P < 0.001); and 0.17 ± 0.02 at 6 mo (P < 0.001). CONCLUSIONS The polyol pathway is implicated in hemodynamic changes associated with early diabetic nephropathy, and aldose reductase treatment can positively influence these parameters.

The aim of this study was to evaluate the usefulness of the angiotensin converting enzyme (ACE) inhibitor enalapril in a group of 30 patients (mean age 73.3 years) with moderate hypertension and normal haematological and chemical parameters (170 +/- 8.1 mmHg systolic and 104 +/- 5.8 mmHg diastolic blood pressure), who were receiving diuretic therapy with chlorthalidone (12.5 mg/day). This therapy caused a significant decrease in systolic and diastolic blood pressure (to 165 +/- 6.7 and 98 +/- 4.7 mmHg, respectively; P less than 0.001) but it also induced hypokalaemia (3.04 +/- 0.7 mmol/l; P less than 0.001) and multiple (greater than 10/h) and complex premature ventricular depolarizations (2nd, 3rd and 4th Lown grade). Enalapril treatment (5 mg/day for 5 days and 10 mg thereafter) was added to the diuretic therapy and after 2 months a further decrease in blood pressure was observed (to 158 +/- 5.6 mmHg systolic, P less than 0.001; 87.2 +/- 5.0 mmHg diastolic, P less than 0.001). Moreover, there was a significant reduction in the mean heart rate (from 79 to 72 beats/min, P less than 0.005) and an increase in serum potassium (to 4.19 +/- 0.2 mmol/l; P less than 0.001). In 80% of patients a 24-h dynamic electrocardiogram showed a significant reduction in both the number and complexity of premature ventricular depolarizations. Our findings suggest that ACE inhibitors can be useful in patients developing hypokalaemia during therapy. However, we are not yet able to explain the beneficial effects of enalapril in decreasing the frequency of premature ventricular depolarizations.

The apple Malus domestica cv Annurca is a variety from the Campania Region (in Southern Italy), known for its high quality, recognized with the "Protected Geographical Indication" (PGI) trademark. Differences in cultivation area could help to guarantee the geographic origin of this product. Free amino acids in Annurca apples cultivated in the Campania Region were analyzed using amino acid analyzer with post-column ninhydrin derivatization procedure, a chemometric approach. The main free amino acids present in samples from Annurca apples were asparagine (>70 mg/100 g), aspartic acid, glutammic acid and O-phosphoserine (about 1-5 mg/100 g each). Other amino acids were detected in minor amounts (less than 1 mg/100 g). Subsequently, the cluster analysis obtained indicates that the Annurca apples from Presenzano, Pietravairano, Vitulazio and Valle di Maddaloni (little town of Campania region) may be possible by distinguish on the basis of their free amino acid profiles. The confidence of the cluster obtained for apples, has been tested considering the free amino acid profiles from other vegetable cultivars It is concluded that free amino acid profiles are good indicators of the geographic origin of Annurca apples and other vegetables, proposing a simple method compared with more tedious analyses, which could be transferred to other laboratories, making the acquisition of raw data easy (free amino acid profiles).

von Hippel-Lindau (vHL) disease is a heritable multisystem cancer syndrome that is associated with a germ line mutation of the vHL tumor suppressor gene on the short arm of chromosome 3. Affected individuals are at risk of developing various benign and malignant tumors of the central nervous system, kidneys, adrenal glands, pancreas, and epididymis. The name of this disease derives from two prestigious European physicians, Eugen von Hippel and Arvid Lindau, but many others played an important part in the description of the disorder. vHL disease has an old and modern history, thanks to the advent of new radiology and molecular biology diagnostic techniques.

Aims: To evaluate the role of bisoprolol to control symptoms and left ventricular outflow tract obstruction (LVOTO) in a consecutive cohort of adults with hypertrophic cardiomyopathy (HCM). Methods and results: In this retrospective study, patients with HCM with an LVOT gradient ≥50 mmHg after Valsalva manoeuvre and New York Heart Association (NYHA) class II-III symptoms were assigned to receive bisoprolol (starting at 1.25 mg daily). The initial dose was increased every two weeks to achieve the target in LVOT gradient

BACKGROUND: In straight wire preadjusted appliances, all the information required to position the teeth in three planes is included in the brackets placed at the midpoint of the facial axis of the clinical crown, defined by facial axis point (FA). Central to this technique is the bracket placement.Preadjusted orthodontic appliances cannot get the right tooth position with a straight wire because of the inaccuracy of bracket placement. Horizontal, axis, vertical, and base are the most common bracket placement errors.The aim of this paper was to describe a bracket positioner to fix the brackets accurately (Q) on FA point (FAQ.FIX®) in direct or indirect bonding. METHODS: After the development of a prototype, a FAQ.FIX® along with a Bracket Placement Clinical Chart was developed and thus described. RESULTS: FAQ.FIX® along with the Bracket Placement Clinical Chart may facilitate the accuracy in bracket placement on FA point avoiding the most common bracket placement errors regardless the operator skill, even in particular or difficult case. CONCLUSIONS: FAQ.FIX®may represent a significant improvement in the bracket placement compared to the bracket eye and the traditional gauges positioning. Further studies will be needed to verify the clinical efficacy.

To confirm recent reports on the incidence of human lymphocyte antigens (HLA) in familial hypertrophic cardiomyopathy and to better define the genetic patterns found in these patients.A large family (31 members, 18M, 13F, age range 6-80 years) with a high incidence of hypertrophic cardiomyopathy was screened for HLA, dermatoglyphic patterns and blood subtyping.Our finding show variable expression of the disease and reduced penetrance. No linkage between the disease-causing gene and HLA loci could be demonstrated in the family. There was no specific haplotype which present in all affected individuals and missing in all controls. Haplotype A2 B18 was the most commonly encountered in affected individuals but was absent in IV 3 and present in a few controls. No linkage was found between the disease-responsible gene and the blood groups. Finally, no typical pattern emerged from the dermatoglyphic studies.The genetic assessment of this family, in agreement with other European studies, showed no clear correlation between hypertrophic cardiomyopathy and blood groups ABO, Rh, Lewis, Duffy and was unable to show atypical or unusual dermatoglyphic patterns.

To define the availability of Doppler echocardiography in evaluating left ventricular hemodynamic changes induced by some clinical findings of acute coronary insufficiency, we selected 12 patients with angina and 32 affected by acute myocardial infarction. Doppler echocardiography was performed at hospital admittance and during recovery time. Left ventricular contractility was defined on the systolic aortic flow spectrum by measuring the aortic velocity maximum, the time to peak/left ventricular ejection time ratio, and the cardiac output. During the first examination, left ventricular contractility significantly decreased in patients with angina and in those with acute myocardial infarction. After the acute phase, these parameters slightly improved. Left ventricular diastolic filling was evaluated in the transmitral flow. A decreased E-wave velocity and an increased late component (A wave) with inversion of the E/A wave ratio were found inpatients with acute myocardial infarction during the first examination. This morphology inverts when the patients stabilize. On the contrary, this ratio stayed above one during and after angina. In this study, we also defined the usefulness of the color Doppler method in setting up criteria to identify some early morphological complications of acute myocardial infarction in 12 patients with acute infarction and a new systolic murmur. This technique showed an ischemic rupture of the ventricular septum in five cases and mitral regurgitation in seven. The color Doppler method has allowed us to obtain a semi-quantitative assessment of the mitral regurgitation and the location of the ventricular septal defect. (ECHOCARDIOGRAPHY, Volume 8, May 1991)