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Aim of our study was to ascertain, prospectively, whether serum uric acid is a suitable predictor of preeclampsia and/or the delivery of small-for-gestational-age infants in women with gestational hypertension. We screened 206 primiparas, with a singleton pregnancy, referred for recent onset of hypertension. At presentation, we measured serum uric acid, creatinine, blood glucose, hemoglobin and platelet level, and 24-hour proteinuria, as well as office and 24-hour blood pressures. We followed the women until 1 month after delivery and recorded pregnancy outcome. After logistic regression analysis, uric acid resulted a significant predictor of preeclampsia, with an unadjusted odds ratio of 9.1 (95% CI: 4.8 to 17.4; P<0.001); after adjustment for age, gestation week, hemoglobin and platelet levels, serum creatinine, office and 24-hour average systolic and diastolic blood pressures, it was 7.1 (95% CI: 3.2 to 15.7; P<0.001). Regarding the association between maternal serum uric acid and the chance of giving birth to a small-for-gestational-age infant, the unadjusted odds ratio was 1.7 (95% CI: 1.4 to 2.2; P<0.001), and it was 1.6 (95% CI: 1.1 to 2.4; P=0.02) after adjustment. Receiver operating characteristic analysis showed that serum uric acid, at a 309-μmol/L cutoff, predicted the development of preeclampsia (area under the curve: 0.955), with 87.7% sensitivity and 93.3% specificity, and the delivery of small-for-gestational-age infants (area under the curve: 0.784) with 83.7% sensitivity and 71.7% specificity. In conclusion, the results of our study show that serum uric acid is a reliable predictor of preeclampsia in women referred for gestational hypertension.

We report an unusual case of rhabdomyolysis due to coturnism (food poisoning caused by eating quails). The patient's clinical course is described, and possible pathogenetic mechanisms of this syndrome are briefly discussed.

Background: Despite recent evidence, the role of uric acid as a causal factor in the pathogenesis and progression of kidney disease remains controversial, partly because of the inclusion in epidemiologic studies of patients with hypertension, diabetes, and/or proteinuria., Study Design: Prospective observational cohort., Setting & Participants: 900 healthy normotensive adult blood donors (153 women, 747 men) evaluated at baseline and after 5 years., Predictor: Serum uric acid level., Outcomes: Decrease in estimated glomerular filtration rate (eGFR) >10 mL/min/1.73 m(2), computed using the Modification of Diet in Renal Disease (MDRD) Study equation, with secondary analyses examining similar decreases using the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) and Cockcroft-Gault equations., Results: During a median follow-up of 59 months, eGFR decreased from 97 +/- 16 to 88 +/- 14 mL/min/1.73 m(2). Higher serum uric acid levels were associated with a greater likelihood of eGFR decrease in both women and men (HR, 1.13 [95% CI, 1.04-1.39] per each 1-mg/dL increase in uric acid level); in multivariable analyses adjusting for age, sex, body mass index, blood glucose level, total cholesterol level, mean blood pressure, urine albumin-creatinine ratio, and serum triglyceride level, the association remained highly significant (HR, 1.28 [95% CI, 1.12-1.48]). Results were similar using different estimating equations and when the association was examined in sex-specific subgroups., Limitations: Analyses were based on a single baseline uric acid measurement. Women are underrepresented., Conclusions: In healthy normotensive individuals, serum uric acid level is an independent risk factor for decreased kidney function., (Copyright (c) 2010 National Kidney Foundation, Inc. Published by Elsevier Inc. All rights reserved.)

Background: Microalbuminuria has been linked to cardiovascular (CV) risk in patients with diabetes or hypertension, and in an unselected general population; serum uric acid (UA) is emerging as a novel risk factor for CV disease. The aim of our study was to evaluate the prevalence of excess microalbuminuria and its relation to established CV risk factors and serum UA in healthy subjects., Methods: We screened 900 healthy blood donors (age range, 20-65 years; 747 men, 153 women), and measured total, HDL and LDL cholesterol, blood glucose, serum and urinary creatinine, serum UA, blood pressure (BP) and microalbuminuria (urinary albumin/creatinine ratio, ACR). The Framingham risk score was also calculated., Results: After excluding 52 participants, we found that in 848 participants (702 men, 146 women) the overall prevalence of excess ACR, using a 30 mg/g creatinine cutoff, was 9.3% (9.7% of men, 7.5% of women, p=0.16); adopting a gender-dependent cutoff, we found that the overall prevalence was 13.6% (15.1% of men, 6.2% of women, p<0.01). ACR was highly correlated to diastolic (r=0.88, p<0.001) and systolic (r=0.74, p<0.001) BP, and also--though not as strongly--to serum UA (r=0.38, p<0.001). In a stepwise multiple regression model, systolic and diastolic BP, total cholesterol, serum creatinine and UA were segregated as independent predictors of microalbuminuria (model R=0.91, R square=0.83). Correlation of serum UA to ACR remained significant, albeit attenuated (r=0.09, p=0.02), after adjustment for serum creatinine, total cholesterol, systolic and diastolic BP., Conclusions: The results of our study show ACR to be abnormal in a significant proportion of seemingly healthy subjects, and serum UA to be an independent predictor of microalbuminuria.

A high rate of cardiovascular morbidity and mortality in uremic patients was documented early in the 1970s, and this remained unchanged according to more recent European and U.S. American registry report. In large cross-section studies of uremic patients, traditional cardiovascular risk factors such as hypertension and hypercholesterolemic have been found to have low predictive power, while emerging factors such as markers of inflammation and malnutrition, are strongly correlated with cardiovascular mortality. In addition, retained uremic solute such as b-2-microglobulin, advanced glycosylated end product (AGE), homocysteine, cysteine, sulfate may contribute to the pro-atherogenic milieu of uremia. Exhaled alkanes such as isoprene, increased during and after hemodialysis sessions, have been identified as accelerating factors of the atherosclerotic process. In patients with renal disease, even when GFR is still normal, increased sympathetic activity is demonstrable. The rising catecholamines turnover is a risk factor for cardiovascular disease for the high sensitivity of the heart and the arteries to increased sympthetic activity.

Background: Cardiovascular (CV) disease is the leading cause of morbidity and mortality in chronic hemodialysis (HD) patients. Inflammation is a potent risk factor for CV disease in the general population. Recent evidence suggests infection, particularly with agents such as Chlamydia pneumoniae (C.pneumoniae) and Helicobacter pylori (H.pylori), as a source of sustained inflammation. Our study tested the hypothesis that C-reactive protein (CRP) and positive serology for antibodies to C.pneumoniae and H.pylori can be associated with the occurrence of new CV events in chronic HD patients., Methods: We evaluated 76 chronic HD patients (33 women and 43 men, aged 60.5+/-17.3 years) by measuring baseline CRP levels as well as the titres of antibodies (IgG and IgA) to C.pneumoniae and(IgG) to H.pylori. In addition, risk factors such as hypertension, smoking, diabetes, cholesterol levels and albumin were assessed at baseline. The incidence of new CV events (myocardial infarction and ischemic stroke) was recorded during a 36-month follow-up period. The effect of prognostic factors was evaluated by logistic regression analysis., Results: The incidence of CV events was significantly higher in patients seropositive for C.pneumoniae antibodies than in those seronegative (16.1 vs. 4.3 events/100 patient-years, p=0.017, risk ratio 3.76), whereas it did not differ for H.pylori (12.2 vs. 11.7 events/100 patient-years,p=0.91, risk ratio 1.04). Logistic regression analysis showed C.pneumoniae seropositivity (odds ratio 10.11, p=0.04) and CRP levels (odds ratio 1.78, p=0.03) to be independent predictors of the occurrence of CV events., Conclusions: CRP levels and C.pneumoniae antibodies, but not H.pylori antibodies, were predictors of CV morbidity in the chronic HD patients studied.

Introduction: The authors describes the past eight years, since an epidemic started in Cuba which mainly affected the nervous system, particularly the optic nerve and the peripheral nerves. It is thought to have been the biggest epidemic involving the nervous system this century, although there may be over-diagnosis. The cause is controversial but is probably nutritional imbalance with additional toxic elements also in some cases. At the present time the continuous, low, notification of new cases means that it is endemic., Development: In this paper we consider the clinical and electrophysiological aspects characteristic of the disorder, the degree of involvement, evolution, incidence and annual follow-up of cases from 1992 to date and their differential diagnosis. We describe the national programme of healthcare for control of the disease in Cuba, the measures designed to reduce the number of patients, most of the results of clinical and epidemiological studies and the possible causes. We also discuss the most likely physiopathological hypotheses.

Introduction: This century, the greatest epidemic affecting the nervous system was notified in Cuba seven years ago. At the present time the epidemic continues although to a lesser extent. The clinical findings of the illness were mainly bilateral optic neuropathy sometimes accompanied by other symptoms and peripheral neuropathy. The similarity of the optic form of the illness with Leber's hereditary optic neuropathy, and their common risk factors, were obvious from the beginning., Patients and Methods: Statistics from the national reference department of neuro-ophthalmology of the Instituto de Neurologia de Cuba were reviewed. From these it was evident that the number of cases of Leber's hereditary optic neuropathy had increased in recent years, coinciding with the period of epidemic and endemic Cuban neuropathy. Many of these patients had previously been diagnosed as having epidemic optic neuropathy., Results: We describe the characteristics of a group of these patients and discuss the differences and possible relationship between the two conditions. In the case of epidemic optic neuropathy, there is strikingly simultaneous loss of vision, less visual changes with much smaller cecocentral scotomas, loss of ganglion fibres of the retina around the papillomacular bundle, a good response to multivitamin treatment, and increased frequency of association with peripheral sensory neuropathy., Conclusion: This analysis reinforces the hypothesis that many patients with Leber's hereditary optic neuropathy, which started at the time of the epidemic, were incorrectly classified as suffering from this, and also perhaps their condition worsened due to the toxic nutritional features common to both conditions.

In this study we examined breath volatile hydrocarbon concentrations in exhaled air of hemodialysis patients. We assessed both C(2)-C(5) alkanes - among them ethane and pentane the production of which in man is essentially due to the action free radicals exert on polyunsaturated fatty acids - and isoprene, an unsaturated hydrocarbon the biosynthesis and biological effects of which are the subject of controversy and mounting interest. Twenty patients were studied. Evaluation was performed intrapatient in the breath of patients with chronic renal failure, before and after dialysis (20 patients) and, in the same cases, during hemodialytic treatment (10 patients). Breath concentrations of these volatile hydrocarbons, determined before dialysis, were not different from those of normal subjects. Dialysis did not modify the levels of the C(2)-C(5) saturated hydrocarbons ethane, propane, butane and pentane. Instead, there was a marked increase in isoprene in all patients (basal values rose by a mean of 270%). Since isoprene was not present in the fluids or filters used for dialysis and there were only traces in the ambient air, the isoprene must have been produced endogenously during hemodialysis. As no situation has previously been reported to increase endogenous production of isoprene in humans, patients in hemodialysis offer a unique opportunity to investigate in depth the medical, biological and toxicological aspects of isoprene.

A case of unexpected death in a six-year-old child, who died after a period of non-specific symptoms and clinical signs, is described. The cause of death was a pilocytic astrocytoma of the pontocerebellar angle, rare with regard to location and histology. The authors have reviewed the literature, which was scanty.

Authors reports a rare case of association between two pathologies that, even if apparently very different, are both immunologically determined: celiac disease (CD) and transient erythroblastopenia of childhood (TEC). Such an association may be less rare commonly thought and this may be true for other autoimmune diseases, too. Clinical and pathological observations, together with etio-pathogenetic hypotheses, are discussed.

Background: The preparation of a PN (parenteral nutrition) solution in neonatal and paediatric Departments is an operation of both critical importance and great difficulty (need of time to do it; complex calculations in order, for example, to subtract takes of nutrients from other sources; etc.)., Materials and Methods: With the aim to speed such a proceeding, the authors (from a 1000 deliveries/year NICU) developed a computerised system for the preparation of PN mixtures, based on a common and easily available "spreadsheet"., Results: The results of its application on a population of preterm babies in which parenteral and enteral (minimal enteral nutrition etc.) feedings were contemporarily provided, are illustrated. Advantages by using this software are the lower cost if compared with other dedicated softwares on sale and its great simplicity and versatility. The program is easy to use eve if different feeding plans are required; the data obtained at the end of the study demonstrated the effectiveness of the software in correctly calculate food components dosages., Conclusions: Using producer's data on feedings composition and up-to-date parenteral nutrition schedules, a reliable composition of the obtained PN mixtures was eventually achieved, as demonstrated by growth and blood samples.

30-year data are presented on blood pressure and cardiovascular morbidity and mortality for 144 nuns living in a secluded order in six nunnerlie in Umbria, central Italy and 138 lay women from the same region. There were no significant differences at baseline regarding age, blood pressure, body mass index, race, ethnic background, menarche, family history of hypertension or 24-hour urinary sodium excretion. None of the women were smokers and none took birth control pills nor did they use estrogen replacement therapy. During the observation period blood pressure remained remarkably stable among the nuns. None showed a rise in diastolic blood pressure to above 90 mm Hg. On the contrary the lay women showed the expected rise in blood pressure with age. This resulted in a gradually greater difference (delta > 30/15 mm Hg) in blood pressure between the two groups, which was statistically significant. There were 31 fatal and 69 non-fatal cardiovascular events during the 30 years of follow-up. These were significantly more common in the lay women, 10 vs. 21 fatal and 21 vs. 48 non-fatal in the nuns and lay women respectively. It appears reasonable to assume that the difference in psychosocial stress is the main underlying factor for the observed findings.

Patients with a blunted or absent nocturnal blood pressure (BP) drop may be subject to increased risk for target organ damage. In this 3-year longitudinal case-control study we tested the hypothesis that an association exists between a reduced or absent night-time fall in BP and a future decline of kidney function in renal hypertensive patients. The case subjects were 48 hypertensives with renal insufficiency, divided into two groups according to the presence (dippers: n 20) or absence (non-dippers: n 28) of a nocturnal diastolic BP decline greater than 10% of daytime values, detected by ambulatory BP monitoring. At the baseline evaluation the two groups did not differ with respect to age, sex, body weight, office systolic and diastolic BP, mean daytime ambulatory BP, creatinine clearance, 24 h proteinuria. In the ambulatory BP profiles over a 3-year follow-up the nocturnal reductions of systolic and diastolic BP in the dippers were 14% and 15%, respectively, vs 7% and 5% in the non-dippers (p = 0.002/0.003). The non-dippers had a faster rate of creatinine clearance decline than the dippers (0.37 +/- 0.26 vs 0.27 +/- 0.09 ml/min/month; p = 0.002). Urinary protein excretion increase was higher in the non-dipper group than in the dipper group (993 +/- 438 vs 691 +/- 222 mg/24 h; p = 0.009). This longitudinal study suggests that the non-dipping pattern of ambulatory BP can be associated with a faster progression of renal insufficiency in renal hypertensives and that a proper nocturnal BP control is an additional aim of antihypertensive therapy.

An eight-months-old infant presenting with anemia, hepatosplenomegaly, hypoalbuminemia and polyclonal hypergammaglobulinemia was finally found to be affected by visceral leishmaniasis, after having suspected oncohaematologic problems. Diagnosis was confirmed by bone marrow aspiration. Complete recovery was achieved with antimonial N-methylglucamine (Glucantim) administered IM.

Feto-maternal transfusion is an uncommon cause of neonatal anemia due to the passage of fetal blood in maternal circulation, in an amount greater than 150-180 ml. The onset of anemia may be acute or chronic in relation to the speed of blood loss. The case that we report has intermediate features between the acute and chronic form.

Clinical, electrocardiographic and echocardiographic data were collected in a group of 228 patients with autosomal dominant polycystic kidney disease (PKD) and in another group of 146 unaffected members (NPKD) both comprised in a five-generation kindred followed for 10 years, in order to determine the profile and prevalence of cardiovascular derangement of the genetic disease. A family of 181 members was used as a control. The prevalence of left ventricular hypertrophy in the three groups was 24, 14 and 6% respectively (p less than 0.01); after 10 years it increased up to 35, 26 and 13% respectively (p less than 0.05). The evidence of mitral-valve prolapse was more frequent in PKD and in NPKD group (25 and 20% respectively) than in control subjects (2%) (p less than 0.0001). Mitral incompetence was found in 30, 18 and 8% of those groups respectively (p less than 0.002). The large difference in mitral involvement did not change over time. Tricuspid valve prolapse was detected in 5, 4 and 1% of the three groups, respectively (p less than 0.05). A small increase in frequency was found after 10 years only in polycystic kidney disease patients. Regurgitant aortic lesions were present in higher prevalence in PKD (19%) and NPKD (17%) members than in controls (5%) (p less than 0.001). After 10 years they were 23, 20 and 8%, respectively.(ABSTRACT TRUNCATED AT 250 WORDS)

Edwards (or trisomy 18) syndrome, with a frequency of about 1 over 8000 births, is commonly characterized by a very short survival; those rare cases reported with ages of 12 months or more, always were demonstrated to be chromosomic mosaicisms. Two affected children with completely different outcomes are here described; the first with a classic short-life evolution, in opposition to the second with long survival, the last a good example of all those various biological, psychological and social support interventions in these circumstances, very rare to match with, for this appears to be a trisomy 18 without mosaicism.

Taking the institution of the Italian Neuroectodermosis Register (Fois, April 1987) as a starting point, the Authors reviewed their own case-records, including six cases of neurofibromatosis and five cases of tuberous sclerosis, observed during the period 1982/88, and stress the need for early diagnosis (unfortunately often neglected), indispensable both for an effective prevention of any pathological involvement and for precise genetic counselling, susceptible of further improvements thanks to more and more advanced diagnostic techniques.

Tuberous sclerosis (TS) represents a relatively frequent inherited disorder of the skin and neurological tissues. Defects of other organs may also be present, but subjects differ significantly in their individual involvement. Usually, white leaf - shaped macules, even though most subtle, are the first precocious sign of the disease in young patients. Other signs tend to appear when the patient grows older. Visceral disorders include renal angiomyolipomata; clinical behavior of these solid tumors is almost always benign. Sometimes the renal lesions present themselves as polycystic kidneys, and may be the earliest sign and the only manifestation of TS, such as the case here described. This unusual form of renal involvement may be a severe potential complication of TS for the possible blood hypertension, recurrent urinary sepsis and chronic renal failure. It is of the utmost importance to search for the classical stigmata of TS in any patient who has cystic renal enlargement as only apparent abnormality. Careful inquiry into the family history cannot be overemphasized. The authors believe that, failing availability of adequate therapy for TS, the role in genetic counseling is to provide as much informations as possible to enable the involved family to make an intelligent decision about future children.

In a prospective study blood pressure was recorded for 20 years in 132 white patients with congenital blindness and in 138 white control schoolchildren. The subjects for both groups were consecutively enrolled without any selection parameters. During the study period a similar proportion of blind patients and controls reported identical consumption of tobacco (above the age of 14 years) and of oral contraceptives (above 21 years) among women. Mean 24-h urinary sodium excretion, collected randomly in both groups, did not differ between the blind patients and the controls. During the 20-year period systolic and diastolic blood pressure rose with age in the control group as expected and much less in blind patients; after 14-17 years the difference was statistically significant. The mean slope of the regression line (beta coefficient) for systolic blood pressure versus age was 1.143 in the blind patients and 1.794 in the controls (P less than 0.001), and for diastolic blood pressure 0.908 in the patients and 1.353 in the school children (P less than 0.001). The mean weight and body mass index increased more in the blind patients than in the controls (difference 5.9 and 2.8 kg, respectively). The results support the hypothesis that low visual and cognitive stress levels determine a lower level of cardiovascular reactivity with ageing.