Hematological findings in Noonan syndrome

OBJECTIVE: Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD: We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding time, prothrombin time, activated partial thromboplastin time and thrombin time tests, a platelet count, and a quantitative determination of factor XI. RESULTS: An abnormal laboratory result was observed in 9 patients (30%). Although coagulation-factor deficiencies, especially factor XI deficiency, were the most common hematological findings, we also observed abnormalities of platelet count and function in our screening. CONCLUSIONS: Hemostatic abnormalities are found with some frequency in Noonan syndrome patients (30% in our sample). Therefore, we emphasize the importance of a more extensive hematological investigation in these patients, especially prior to an invasive procedure, which is required with some frequency in this disorder.

HAART: a risk factor for development of porphyria cutanea tarda?

Porphyria cutanea tarda (PCT) is caused by inherited or acquired partial deficiency of the uroporphyrinogen-decarboxylase (Uro-D) enzyme activity. It is the most common form of porphyria. The main triggering factors to the development of porphyria cutanea tarda are alcohol, hepatitis C virus and human immunodeficiency virus. There are several reports of PCT associated with drugs, among them, antiretroviral therapy. We describe three HIV-positive patients, which showed photosensitivity as well as the emergence of tense blisters on sun-exposed areas during the use of highly active antiretroviral therapy (HAART) and discuss the possibility of PCT after the use of these drugs by those patients.

Testosterone Deficiency Increases Hospital Readmission and Mortality Rates in Male Patients with Heart Failure

Background:Testosterone deficiency in patients with heart failure (HF) is associated with decreased exercise capacity and mortality; however, its impact on hospital readmission rate is uncertain. Furthermore, the relationship between testosterone deficiency and sympathetic activation is unknown.Objective:We investigated the role of testosterone level on hospital readmission and mortality rates as well as sympathetic nerve activity in patients with HF.Methods:Total testosterone (TT) and free testosterone (FT) were measured in 110 hospitalized male patients with a left ventricular ejection fraction < 45% and New York Heart Association classification IV. The patients were placed into low testosterone (LT; n = 66) and normal testosterone (NT; n = 44) groups. Hypogonadism was defined as TT < 300 ng/dL and FT < 131 pmol/L. Muscle sympathetic nerve activity (MSNA) was recorded by microneurography in a subpopulation of 27 patients.Results:Length of hospital stay was longer in the LT group compared to in the NT group (37 ± 4 vs. 25 ± 4 days; p = 0.008). Similarly, the cumulative hazard of readmission within 1 year was greater in the LT group compared to in the NT group (44% vs. 22%, p = 0.001). In the single-predictor analysis, TT (hazard ratio [HR], 2.77; 95% confidence interval [CI], 1.58–4.85; p = 0.02) predicted hospital readmission within 90 days. In addition, TT (HR, 4.65; 95% CI, 2.67–8.10; p = 0.009) and readmission within 90 days (HR, 3.27; 95% CI, 1.23–8.69; p = 0.02) predicted increased mortality. Neurohumoral activation, as estimated by MSNA, was significantly higher in the LT group compared to in the NT group (65 ± 3 vs. 51 ± 4 bursts/100 heart beats; p < 0.001).Conclusion:These results support the concept that LT is an independent risk factor for hospital readmission within 90 days and increased mortality in patients with HF. Furthermore, increased MSNA was observed in patients with LT.

Long term dietary deficiency in steers: vital functions and T3 and IGF-1 relationships

To evaluate the influence of diets with different degrees of energy deficiency on the hormonal profile and vital functions, 12 steers were randomly distributed into 3 groups of 4 animals. For 140 days, each group received (G1) a diet to promote a weight gain of 900gr/day (17.7 Mcal/d DE and 13% CP), (G2) 80% of the maintenance requirements (5.8 Mcal/d DE and 7% CP), or (G3) 60% of the maintenance requirements (4.7 Mcal/d DE and 5% CP). In G2 and G3, the energy deficit caused a marked decrease in the heart rate and respiratory rate and a reduction in the blood levels of Insulin like growth factor-1 (IGF-1) and triiodothyronine (T3). The decrease in heart rate, respiratory movement and, to a lesser extent, reduction of the rectal temperature, reflected the low status of energy and was negatively impacted by the low levels of T3. There was a strong correlation between the hormones T3 and IGF-1 (r=0.833). There were also strong correlations between T3 and HR (r=0.701), T3 and RR (r=0.632), IGF-1 and HR (r=0.731), and IGF-1 and RR (r=0.679). There were intermediate correlations between T3 and TºC (r=0.484), T3 and insulin (r=0.506), IGF-1 and insulin (r=0.517), and IGF-1 and TºC (r=0.548). This study showed the influence of a long period of providing an energy-deficient diet on animal performance, correlating hormonal status and vital functions in growing cattle. The results indicated that the evaluated parameters represent an important tool for the early detection of dietary deficiency.

Stem cell factor protects against neuronal apoptosis by activating AKT/ERK in diabetic mice

Neuronal apoptosis occurs in the diabetic brain due to insulin deficiency or insulin resistance, both of which reduce the expression of stem cell factor (SCF). We investigated the possible involvement of the activation of the MAPK/ERK and/or AKT pathways in neuroprotection by SCF in diabetes. Male C57/B6 mice (20-25 g) were randomly divided into four groups of 10 animals each. The morphology of the diabetic brain in mice treated or not with insulin or SCF was evaluated by H&E staining and TUNEL. SCF, ERK1/2 and AKT were measured by Western blotting. In diabetic mice treated with insulin or SCF, there was fewer structural change and apoptosis in the cortex compared to untreated mice. The apoptosis rate of the normal group, the diabetic group receiving vehicle, the diabetic group treated with insulin, and the diabetic group treated with SCF was 0.54 ± 0.077%, 2.83 ± 0.156%, 1.86 ± 0.094%, and 1.78 ± 0.095% (mean ± SEM), respectively. SCF expression was lower in the diabetic cortex than in the normal cortex; however, insulin increased the expression of SCF in the diabetic cortex. Furthermore, expression of phosphorylated ERK1/2 and AKT was decreased in the diabetic cortex compared to the normal cortex. However, insulin or SCF could activate the phosphorylation of ERK1/2 and AKT in the diabetic cortex. The results suggest that SCF may protect the brain from apoptosis in diabetes and that the mechanism of this protection may, at least in part, involve activation of the ERK1/2 and AKT pathways. These results provide insight into the mechanisms by which SCF and insulin exert their neuroprotective effects in the diabetic brain.

Hypomagnesemia is a risk factor for nonrecovery of renal function and mortality in AIDS patients with acute kidney injury

The objective of the present study was to determine the prevalence of electrolyte disturbances in AIDS patients developing acute kidney injury in the hospital setting, as well as to determine whether such disturbances constitute a risk factor for nephrotoxic and ischemic injury. A prospective, observational cohort study was carried out. Hospitalized AIDS patients were evaluated for age; gender; coinfection with hepatitis; diabetes mellitus; hypertension; time since HIV seroconversion; CD4 count; HIV viral load; proteinuria; serum levels of creatinine, urea, sodium, potassium and magnesium; antiretroviral use; nephrotoxic drug use; sepsis; intensive care unit (ICU) admission, and the need for dialysis. Each of these characteristics was correlated with the development of acute kidney injury, with recovery of renal function and with survival. Fifty-four patients developed acute kidney injury: 72% were males, 59% had been HIV-infected for >5 years, 72% had CD4 counts <200 cells/mm³, 87% developed electrolyte disturbances, 33% recovered renal function, and 56% survived. ICU admission, dialysis, sepsis and hypomagnesemia were all significantly associated with nonrecovery of renal function and with mortality. Nonrecovery of renal function was significantly associated with hypomagnesemia, as was mortality in the multivariate analysis. The risks for nonrecovery of renal function and for death were 6.94 and 6.92 times greater, respectively, for patients with hypomagnesemia. In hospitalized AIDS patients, hypomagnesemia is a risk factor for nonrecovery of renal function and for in-hospital mortality. To determine whether hypomagnesemia is a determinant or simply a marker of critical illness, further studies involving magnesium supplementation in AIDS patients are warranted.

Deficiency of sex hormones does not affect 17-ß-estradiol-induced coronary vasodilation in the isolated rat heart

The relaxation of coronary arteries by estrogens in the coronary vascular beds of naive and hypertensive rats has been well described. However, little is known about this action in gonadectomized rats. We investigated the effect of 17-ß-estradiol (E2) in coronary arteries from gonadectomized rats, as well as the contributions of endothelium-derived factors and potassium channels. Eight-week-old female and male Wistar rats weighing 220-300 g were divided into sham-operated and gonadectomized groups (n=9−12 animals per group). The baseline coronary perfusion pressure (CPP) was determined, and the vasoactive effects of 10 μM E2 were assessed by bolus administration before and after endothelium denudation or by perfusion with NG-nitro-L-arginine methyl ester (L-NAME), indomethacin, clotrimazole, L-NAME plus indomethacin, L-NAME plus clotrimazole or tetraethylammonium (TEA). The CPP differed significantly between the female and sham-operated male animals. Gonadectomy reduced the CPP only in female rats. Differences in E2-induced relaxation were observed between the female and male animals, but male castration did not alter this response. For both sexes, the relaxation response to E2 was, at least partly, endothelium-dependent. The response to E2 was reduced only in the sham-operated female rats treated with L-NAME. However, in the presence of indomethacin, clotrimazole, L-NAME plus indomethacin or L-NAME plus clotrimazole, or TEA, the E2 response was significantly reduced in all groups. These results highlight the importance of prostacyclin, endothelium-derived hyperpolarizing factor, and potassium channels in the relaxation response of coronary arteries to E2 in all groups, whereas nitric oxide may have had an important role only in the sham-operated female group.

Aspectos ecológicos da tripanossomíase americana: XI - domiciliação de Panstrongylus megistus e potencial enzoótico

Foram observadas algumas características de populações locais de Panstrongylus megistus e de mamíferos domiciliados e silvestres. Confirmou-se o papel das matas residuais na permanência local da população triatomínica, bem como o caráter agrupado da dispersão do inseto com nítida preferência pelos anexos domiciliares. Observou-se apreciável ecletismo alimentar do vetor e a ocorrência de multiplicidade na utilização de fontes sanguíneas, o que lhe confere considerável amplitude na sua valência ecológica local. Evidenciou-se a presença de ciclos enzoóticos silvestres e domiciliados indicando a clara possibilidade de reintrodução da tripanossomíase no ambiente humano direto. Conclui-se pela necessidade de manutenção da vigilância epidemiológica a ser cuidadosamente estudada face aos aspectos locais da parasitose.

El estrato socioeconómico como factor predictor del uso constante de condón en adolescentes

OBJETIVO: El estrato socioeconómico juega un rol importante en las desigualdades en salud. En México, la prevalencia más alta de casos de SIDA se encuentra en población de estratos más bajos. El propósito de lo estudio fue describir el estrato socioeconómico (ajustado por variables psicosociales, situacionales y demográficas) como un factor predictor del uso consistente del condón, en adolescentes. MÉTODOS: Se incluyó en el estudio una muestra de una encuesta previa aplicada a 1.410 adolescentes de 15 a 19 años y estratificada por edad, género y estrato socioeconómico de Guadalajara, México. El análisis fue aplicado sobre los 251 adolescentes que reportaron actividad sexual. El análisis estadístico se realizó mediante Ji Cuadrada, t-test, ANOVA y regresión logística. RESULTADOS: La frecuencia de uso consistente de condón fue 30,7% y hubo una prevalencia de uso irregular. El estrato socioeconómico alto fue el principal predictor (OR= 11,1, CI95%= 2,6-47,6). Otros predictores significativos fueron el género masculino, el soporte de los pares y el nivel alto de conocimientos sobre VIH/SIDA. CONCLUSIÓN: El estrato socioeconómico es un importante factor predictor del uso consistente del condón.

Diagnosis of iron deficiency anemia in children of Northeast Brazil

OBJECTIVE: To diagnose iron deficiency anemia in children. METHODS: The study was conducted with a sample of 301 children aged six to 30 months attending public daycare centers in the city of Recife, Northeast Brazil, in 2004. The diagnoses of anemia were based on a combination of different hematological and biochemical parameters: hemoglobin, mean corpuscular volume, ferritin, C-reactive protein, transferrin saturation and transferrin receptor. The chi-square test and ANOVA were used in the statistical analysis. RESULTS: Of all children studied, 92.4% had anemia (Hb <110 g/L) and 28.9% had moderate/severe anemia (Hb <90 g/L). Lower levels of hemoglobin were found in children aged 6-17 months. Iron deficiency was found in 51.5% of children using ferritin (<12 μg/L) as parameter. Taking into consideration the combination of hemoglobin level, ferritin and transferrin receptor, 58.1% had anemia with iron deficiency, 34.2% had anemia without iron deficiency and 2.3% had iron deficiency without anemia. Mean ferritin concentration was significantly higher in children with high C-reactive protein when compared with those with normal levels (22.1 vs. 14.8 µg/L). CONCLUSIONS: The use of several biochemical and hematological parameters allowed to diagnosing iron deficiency anemia in two thirds of children, suggesting a need to identify other determinants of anemia without iron deficiency.

Is adolescent pregnancy a risk factor for low birth weight?

OBJECTIVE: The objective of this study was to evaluate whether adolescent pregnancy is a risk factor for low birth weight (LBW) babies. METHODS: This was a cross-sectional study of mothers and their newborns from a birth cohort in Aracaju, Northeastern Brazil. Data were collected consecutively from March to July 2005. Information collected included socioeconomic, biological and reproductive aspects of the mothers, using a standardized questionnaire. The impact of early pregnancy on birth weight was evaluated by multiple logistic regression. RESULTS: We studied 4,746 pairs of mothers and their babies. Of these, 20.6% were adolescents (< 20 years of age). Adolescent mothers had worse socioeconomic and reproductive conditions and perinatal outcomes when compared to other age groups. Having no prenatal care and smoking during pregnancy were the risk factors associated with low birth weight. Adolescent pregnancy, when linked to marital status "without partner", was associated with an increased proportion of low birth weight babies. CONCLUSIONS: Adolescence was a risk factor for LBW only for mothers without partners. Smoking during pregnancy and lack of prenatal care were considered to be independent risk factors for LBW.

Depressive symptoms in institutionalized older adults

OBJECTIVE To estimate the prevalence of depressive symptoms among institutionalized elderly individuals and to analyze factors associated with this condition. METHODS This was a cross-sectional study involving 462 individuals aged 60 or older, residents in long stay institutions in four Brazilian municipalities. The dependent variable was assessed using the 15-item Geriatric Depression Scale. Poisson’s regression was used to evaluate associations with co-variables. We investigated which variables were most relevant in terms of presence of depressive symptoms within the studied context through factor analysis. RESULTS Prevalence of depressive symptoms was 48.7%. The variables associated with depressive symptoms were: regular/bad/very bad self-rated health; comorbidities; hospitalizations; and lack of friends in the institution. Five components accounted for 49.2% of total variance of the sample: functioning, social support, sensory deficiency, institutionalization and health conditions. In the factor analysis, functionality and social support were the components which explained a large part of observed variance. CONCLUSIONS A high prevalence of depressive symptoms, with significant variation in distribution, was observed. Such results emphasize the importance of health conditions and functioning for institutionalized older individuals developing depression. They also point to the importance of providing opportunities for interaction among institutionalized individuals.

Factors associated with the nutritional status of children less than 5 years of age

OBJECTIVE To analyze if the nutritional status of children aged less than five years is related to the biological conditions of their mothers, environmental and socioeconomic factors, and access to health services and social programs.METHODS This cross-sectional population-based study analyzed 664 mothers and 790 children using canonical correlation analysis. Dependent variables were characteristics of the children (weight/age, height/age, BMI/age, hemoglobin, and retinol serum levels). Independent variables were those related to the mothers’ nutritional status (BMI, hemoglobin, and retinol serum levels), age, environmental and socioeconomic factors and access to health service and social programs. A < 0.05 significance level was adopted to select the interpreted canonical functions (CF) and ± 0.40 as canonical load value of the analyzed variables.RESULTS Three canonical functions were selected, concentrating 89.9% of the variability of the relationship among the groups. In the first canonical function, weight/age (-0.73) and height/age (-0.99) of the children were directly related to the mother’s height (-0.82), prenatal appointments (-0.43), geographical area of the residence (-0.41), and household incomeper capita (-0.42). Inverse relationship between the variables related to the children and people/room (0.44) showed that the larger the number of people/room, the poorer their nutritional status. Rural residents were found to have the worse nutritional conditions. In the second canonical function, the BMI of the mother (-0.48) was related to BMI/age and retinol of the children, indicating that as women gained weight so did their children. Underweight women tended to have children with vitamin A deficiency. In the third canonical function, hemoglobin (-0.72) and retinol serum levels (-0.40) of the children were directly related to the mother’s hemoglobin levels (-0.43).CONCLUSIONS Mothers and children were associated concerning anemia, vitamin A deficiency and anthropometric markers. Living in rural areas is a determining factor for the families health status.

Viscerocutaneous form of loxoscelism and erythrocyte glucose-6-phosphate deficiency

In a period of time of five years, all patients who exhibited viscerocutaneous form of loxoscelism were investigated for erythrocyte glucose-6-phosphate deficiency, and in two patients out of seven it was found this deficiency. This finding suggests that this genetical enzyme deficiency could account for the hemolysis after Loxosceles bite, at least in some of the cases.