Incidencia y valor pronóstico de la existencia de cardiopatía isquémica en pacientes diabéticos asintomáticos de alto riesgo cardiovascular sometidos a un estudio gated-SPECT de perfusión miocárdica / Incidence and prognostic value of ischemic heart disease in high risk cardiovascular asymptomatic diabetic patients detected by gated myocardial perfusion SPECT study

Objetivo. Determinar la utilidad clínica de la gated-SPECT de perfusión miocárdica en la detección de isquemia silente en pacientes diabéticos sin síntomas ni eventos cardiovasculares previos y evaluar implicaciones pronósticas. Material y métodos. Estudio retrospectivo de 56 pacientes diabéticos asintomáticos tras una gated-SPECT de perfusión miocárdica para diagnóstico de enfermedad isquémica. El criterio de isquemia fue: ligera SDS<4, moderada SDS de 4 a 8, severa SDS>8. Se realizó un análisis estadístico multivariante para identificar variables predictoras de un estudio anormal y se registraron hasta diciembre de 2010 los eventos cardiovasculares. Resultados. Una alta proporción de los 56 pacientes presentó un estudio de perfusión anormal (46,4%), existiendo isquemia moderada-severa en el 10,7%, necrosis con isquemia en el 5,4% y necrosis en el 7,1%. No encontramos diferencias en cuanto al tipo de esfuerzo (tapiz rodante o dipiridamol). Existió una alta combinación de factores de riesgo cardiovascular. En el análisis multivariante, la nefropatía diabética fue la única que se relacionó con una SPECT anormal (p=0,043). En el seguimiento, los eventos fueron: 2 revascularizaciones precoces, 5 ingresos en cardiología, 10 muertes de no origen cardíaco. La existencia de isquemia en la SPECT se relacionó de forma significativa con la aparición de eventos cardiovasculares (p<0,05). Conclusión. La SPECT de perfusión miocárdica en diabéticos asintomáticos con alta asociación de factores de riesgo detecta la existencia de isquemia silente, la cual parece relacionarse con futuros eventos cardiovasculares. La nefropatía diabética sugiere mayor probabilidad de estudios anormales; sin embargo, es preciso establecer los criterios de cribado para un mayor rendimiento y un menor coste económico(AU)

Aim. To determine the clinical utility of the gated myocardial perfusion SPECT to detect silent ischemia in asymptomatic diabetic patients without previous coronary events and to evaluate the prognosis of this population. Material and methods. A retrospective study of 56 asymptomatic diabetics referred for a gated myocardial perfusion SPECT for diagnosis of ischemic disease was performed. The criteria for ischemia were: mild SDS<4, moderate SDS 4-8, severe SDS>8. A multivariable statistical analysis was carried out to identify possible predictive variables of an abnormal SPECT. The cardiovascular events were recorded up to December-2010. Results. A high proportion of the 56 patients had an abnormal perfusion study (46.4%), there being moderate-severe ischemia in 10.7%, necrosis with ischemia in 5.4% and necrosis in 7.1%. We found no statistical differences in the type of stress used (treadmill or dipyridamole). The patients had a high combination of cardiovascular risk factors. In the multivariate analysis, diabetic nephropathy was the only factor related to an abnormal SPECT (p=0.043). The events recorded in the follow-up were: 2 early revascularizations, 5 cardiology admissions, 10 non-cardiac related deaths. The existence of ischemia in the SPECT was significantly related to the appearance of cardiovascular events (p<0.05). Conclusion. A gated myocardial perfusion SPECT in asymptomatic diabetics with high combination of cardiovascular risk factors detects silent ischemia in a significant proportion and this seems to be related to future coronary events. Diabetic nephropathy implies a greater likelihood of abnormal studies. However, the screening criteria in this population still need to be established for better performance and lower cost(AU)

[Incidence and prognostic value of ischemic heart disease in high risk cardiovascular asymptomatic diabetic patients detected by gated myocardial perfusion SPECT study]. / Incidencia y valor pronóstico de la existencia de cardiopatía isquémica en pacientes diabéticos asintomáticos de alto riesgo cardiovascular sometidos a un estudio gated-SPECT de perfusión miocárdica.

AIM: To determine the clinical utility of the gated myocardial perfusion SPECT to detect silent ischemia in asymptomatic diabetic patients without previous coronary events and to evaluate the prognosis of this population. MATERIAL AND METHODS: A retrospective study of 56 asymptomatic diabetics referred for a gated myocardial perfusion SPECT for diagnosis of ischemic disease was performed. The criteria for ischemia were: mild SDS<4, moderate SDS 4-8, severe SDS>8. A multivariable statistical analysis was carried out to identify possible predictive variables of an abnormal SPECT. The cardiovascular events were recorded up to December-2010. RESULTS: A high proportion of the 56 patients had an abnormal perfusion study (46.4%), there being moderate-severe ischemia in 10.7%, necrosis with ischemia in 5.4% and necrosis in 7.1%. We found no statistical differences in the type of stress used (treadmill or dipyridamole). The patients had a high combination of cardiovascular risk factors. In the multivariate analysis, diabetic nephropathy was the only factor related to an abnormal SPECT (p=0.043). The events recorded in the follow-up were: 2 early revascularizations, 5 cardiology admissions, 10 non-cardiac related deaths. The existence of ischemia in the SPECT was significantly related to the appearance of cardiovascular events (p<0.05). CONCLUSION: A gated myocardial perfusion SPECT in asymptomatic diabetics with high combination of cardiovascular risk factors detects silent ischemia in a significant proportion and this seems to be related to future coronary events. Diabetic nephropathy implies a greater likelihood of abnormal studies. However, the screening criteria in this population still need to be established for better performance and lower cost.

Short communication: effect of storage and preservation on total bacterial counts determined by automated flow cytometry in bulk tank goat milk.

This study was designed to evaluate the effects of different storage conditions on total bacterial count (TBC) determinations made in goat bulk tank milk using an automated flow cytometry method. The storage conditions tested were storage temperature (refrigeration at 4 and 10 degrees C or freezing at -20 degrees C), the use of a preservative (no preservative, NP; azidiol, AZ; or bronopol, BR), and the age of the milk samples for each analytical condition (storage times at 4 degrees C: from 0 h to 5 d for NP; and from 0 h to 22 d for AZ and BR; storage times at 10 degrees C: from 24 h to 2 d for NP and from 24 h to 22 for AZ and BR; storage times at -20 degrees C: from 24 h to 22 d for NP, AZ, and BR). Significant effects on individual bacterial count (IBC) variation were shown by the bulk tank milk sample, preservative, storage temperature, interaction preservative x storage temperature, and milk age within the interaction preservative x storage temperature. In preserved samples, the highest IBC were obtained for AZ and the lowest counts were obtained in samples preserved with BR. Because of the variation in IBC recorded in BR-preserved samples, we recommend that BR should not be used for TBC determinations using the automated flow cytometry method. The NP samples stored at 4 and 10 degrees C showed significantly higher IBC at 24 h postcollection, also invalidating these analytical conditions for TBC analyses. The practical implications of our findings are that goat milk samples preserved with AZ and stored at 10 or 4 degrees C are appropriate for TBC by the BactoScan flow cytometry method for up to 24 h and 11 d postcollection, respectively.

Short communication: Detection limits of non-beta-lactam antibiotics in goat's milk by microbiological residues screening tests.

This study compares the performance of 4 antimicrobial residue screening tests [brilliant black reduction test AiM (Analytik in Milch Produktions- und Vertriebs GmbH, München, Germany), Delvotest MCS (DSM Food Specialties, Delft, the Netherlands), Eclipse 100 test (ZEU-Inmunotec SL, Zaragoza, Spain), and Copan Milk Test (Copan Italia S.p.a., Brescia, Italy)] used to detect 20 antimicrobial agents (aminoglycosides, macrolides, tetracyclines, sulfonamides, and quinolones) in goat's milk, according to International Dairy Federation guidelines. Composite milk samples from 30 antibiotic-free goats were used to prepare spiked milk samples and 11,520 analytical determinations were carried out. According to a logistic regression model, agreement coefficients were greater than 98% for most of the antibiotics, with higher b values obtained for macrolides. Neither tetracyclines nor quinolones were detected at European Union maximum residue limits. Only the Copan Milk Test and the Delvotest MCS were able to detect 3 antimicrobials below their maximum residue limits (neomycin, tylosin, and sulfadimethoxine). Given that these tests are used in control programs for goat's milk, our results indicate their sensitivity would need to be improved to guarantee safety for consumers.

Detection limits of four antimicrobial residue screening tests for beta-lactams in goat's milk.

This study was conducted to compare the detection limits (DL) of several antibiotic residue screening tests with the maximum residue limits (MRL) authorized by the EU according to the guidance for the standardized evaluation of microbial inhibitor tests of the International Dairy Federation. Composite antibiotic-free milk samples from 30 primiparous Murciano-Granadina goats in good health condition were used to prepare test samples spiked with different concentrations of each antimicrobial. In total, 5,760 analytical determinations of 10 beta-lactam antibiotics (penicillin-G, ampicillin, amoxicillin, cloxacillin, oxacillin, dicloxacillin, cefadroxyl, cefalexin, cefoperazone, and cefuroxime) were performed using 4 antibiotic residue screening tests: the brilliant black reduction test BRT AiM (AiM-Analytik in Milch Produktions-und Vertriebs GmbH, München, Germany), Delvotest MCS (DSM Food Specialties, Delft, the Netherlands), Eclipse 100 (ZEU-Inmunotec SL, Zaragoza, Spain), and the Copan Milk Test (CMT; Copan Italia SpA, Brescia, Italy). For each method, we estimated the detection limits of the antimicrobial agents using a logistic regression model. Using the CMT and Delvotest on samples spiked with the 8 antibiotics for which MRL were available, DL were at or below the MRL. The BRT test provided DL at or below the MRL for all of the agents except cefalexin, whereas the Eclipse 100 method failed to detect 4 antibiotics (ampicillin, amoxicillin, cloxacillin, and cefoperazone) at MRL or below. Logistic regression-determined levels of agreement were highest for the CMT method (98.6 to 100%) and lowest for Eclipse 100 (66.3 to 100%). In general, agreement levels indicated good correlation between observed results and those predicted by logistic regression. The lowest b values (closely related to test sensitivity) were recorded for the cephalosporins (0.074 to 0.430) and highest for penicillin G, ampicillin, and amoxicillin (11.270 to 11.504). Delvotest and CMT best fulfilled IDF criteria for the ideal test for detecting antibiotic residues in milk.

An association between resistant hypertension and the null GSTM1 genotype.

Reduction in expression levels of glutathione S-transferase (GST) mu type 1 (GSTM1) in stroke-prone spontaneously hypertensive rats has recently been reported. GSTM1 genotype was evaluated in 49 patients with resistant hypertension and compared with selected patients with controlled hypertension (n=232) and healthy participants (n=110). Null GSTM1 genotype occurred more frequent in patients with resistant hypertension than those with controlled hypertension (57.1 vs 39.7%; P=0.03; RR 1.96; 95% CI 1.04-3.69) suggesting that null GSTM1 genotype may predispose to resistant hypertension.

Effect of bromelain on milk yield, milk composition and mammary health in dairy goats.

A 7 month prospective cohort study was designed to determine if feeding bromelain to dairy goats influenced the MSCC, milk yield, milk composition and the incidence of IMI. Forty-four clinically normal goats from 2nd to 6th parities were studied. Daily bromelain dosage was 7.4 grams/animal (185-mg/Kg weight). Samples for diagnostic bacteriology were collected from each udder half every 2 weeks. Samples for MSCC and composition were obtained every 42 days. Milk yield was also recorded every 42 days. Bromelain affected milk protein and fat but not MSCC, milk yield or milk lactose. Bromelain did not decrease the MSCC in healthy goats. Milk protein and fat increased in the bromelain treated group (P < 0.01), which is important for dairymen because premiums are paid milk fat and protein content. No clinical mastitis was detected in the goats for the total study period and incidence rate of subclinical IMI was 5.7%. Relative risk was 1.50 (0.28 < RR < 8.12) which means that the bromelain had no significant effect on IMI (P > 0.05). In addition, the use of pineapple by-products could be especially important in tropical countries were pineapple waste seems to be a pollution problem.

Prevalence and prognostic influence of peripheral arterial disease in patients >or=40 years old admitted into hospital following an acute coronary event.

OBJECTIVE: A significant proportion of patients with ischemic heart disease have associated peripheral arterial disease (PAD), but many are asymptomatic and this condition remains underdiagnosed. We aimed to study the prevalence of PAD in patients with an acute coronary syndrome (ACS) and to evaluate its influence in hospital clinical outcomes. METHODS: The PAMISCA register is a prospective, multicenter study involving patients >or=40 years old with ACS admitted to selected Spanish hospitals. All patients had their ankle-brachial index (ABI) measured between days 3 and 7 after the ischemic event. RESULTS: 1410 ACS patients (71.4% male) were included. PAD determined by ABI was documented in 561 patients (39.8%). Factors independently related to PAD were age (OR: 1.04; 95% CI: 1.03-1.06; p<0.001), smoking (OR: 1.88; 95% CI: 1.41-2.49; p<0.0001), diabetes (OR: 1.30; 95% CI: 1.02-1.65; p<0.05), previous cardiac disease (OR: 1.54; 95% CI: 1.22-1.95; p<0.001) and previous cerebrovascular disease (OR: 1.90; 95% CI: 1.28-2.80; p<0.001). Following the ACS, an ABIor=40 years presenting with ACS is high and it is associated with increased cardiovascular risk.

Evaluation of the MilkoScan FT 6000 milk analyzer for determining the freezing point of goat's milk under different analytical conditions.

The aim of this research was to evaluate the Milko-Scan FT 6000 (Foss Electric, Hillerød, Denmark) for determining the freezing point (FP) of goat's milk under different analytical conditions. The FP was determined in duplicate in 1,800 milk aliquots obtained from 45 bulk tank milk samples from 10 Murciano-Granadina goat herds, using the MilkoScan method and a reference thermistor cryoscopy method (Advanced Instrument Inc., Norwood, MA). Five different preservation strategies--no preservative, preservation with azidiol (0.006 or 0.018 g of sodium azide/100 mL), and preservation with bronopol (0.020 or 0.040 g/100 mL)--were then used to preserve the milk. For each preservation strategy, 8 different amounts of water were added (0, 1, 2, 3, 4, 5, 6, or 7% total volume). The results obtained with each method under these 40 analytical conditions were examined by comparison of means, comparison of the standard deviations of repeatability (s(r) and its relative value s(r)%), and a regression analysis. Under most analytical conditions, the FP was recorded as lower by the MilkoScan method, with a mean difference of 1.5 m degrees C compared with the reference method. Both methods showed similar repeatabilities (the overall s(r)% was 0.22% for the MilkoScan method and 0.20% for the reference method). In comparisons of the 2 methods, the highest regression coefficients were obtained with aliquots containing >3% added water. The best regression coefficients (0.85 to 1.02) were obtained for milk samples preserved with bronopol at 0.020 g/100 mL. These results allow the MilkoScan method to be used with goat's milk for screening purposes. The factors of added water, preservative, analytical method, lactose concentration, and the effect of the bulk tank milk sample within each lactose group contributed significantly to the observed variation in FP. For practical purposes, either of the bronopol concentrations could be used when determining the FP of goat's milk with the methods tested. However, the increase in the concentration of sodium azide in the azidiol formula contributed to an important reduction in the FP recorded. Thus, the type and concentration of preservative should be taken into account when interpreting FP values.

Influence of storage and preservation on fossomatic cell count and composition of goat milk.

This study was designed to evaluate the effects of different test conditions on the somatic cell count (SCC) and composition of goat milk. To this end, 3600 tests were performed on 1800 aliquots taken from 40 goat milk samples using a combined instrument set-up based on flow cytometry for SCC and Fourier transform infrared analysis for fat, total protein, lactose, total solids, and freezing point determinations. The conditions tested were storage temperature (refrigeration and freezing), use of a preservative [no preservative (NP), azidiol (AZ), and bronopol (BR)], and age of the milk samples at each storage temperature (24 h to 42 d at refrigeration temperature and 21 to 105 d at freezing temperature). Significant effects on logSCC variation were shown by the storage temperature, the preservation treatment, the interaction of storage temperature x preservation treatment, and milk age within the interaction of storage temperature x preservative. Highest counts were recorded in the BR-preserved milk samples (logSCC = 5.877), and lowest counts were recorded in milk samples preserved using AZ (logSCC = 5.803). The use of frozen/thawed samples led to a significantly decreased logSCC for the treatments AZ and NP; the logSCC was not modified when BR-preserved frozen/thawed samples were analyzed. During storage, variations in the SCC observed for BR-preserved samples stored at refrigeration temperature for up to 25 d and at freezing temperature for all times tested were always < 10%. The preservation treatment was the main factor affecting the milk composition variables examined. Highest values of most variables were obtained in the BR-preserved samples, and the lowest values were obtained in the AZ-preserved samples. The freezing point was lower in the preserved samples than in the NP samples. The levels of milk constituents recorded in the BR-preserved samples were independent of both the storage temperature and age of milk sample. Our findings indicate that the freezing point of goat milk must be interpreted according to the preservative used.

Uso apropiado del término fragilidad / Appropiate use of the term fragility

No disponible

Effect of clinical contagious agalactia on the bulk tank milk somatic cell count in Murciano-Granadina goat herds.

From 19 herds of Murciano-Granadina goats, weekly bulk tank somatic cell count (BTSCC) were performed from October to April, and suspicious milk (n = 182), synovial fluid, and ocular swabs (n = 15) from diseased goats were processed for mycoplasma isolation and identification. Also BTSCC from 65 herds were determined (n = 2693). A mixed model procedure was used to establish the effect of the herd and the lactation month on the BTSCC. Monthly rolling values were calculated for each herd using data collected over the preceding 3 complete months, and 4 different BTSCC thresholds were considered: 1,750,000, 1,500,000, 1,000,000, and 750,000 cells/mL. The mean log BTSCC for the 7-mo study period was 5.89 +/- 0.28 for herds without mycoplasma detection from clinical cases, 5.91 +/- 0.31 for mycoplasma-infected herds without clinical contagious agalactia (CA), and 6.47 +/- 0.32 for the herd with clinical CA. The posthoc tests revealed that only the herd that suffered a clinical CA outbreak showed counts that were significantly higher. No significant differences were found for BTSCC between herds not showing clinical episodes of CA, regardless of whether the mycoplasma had been isolated or not. The 1,750,000-cells/mL threshold would only be surpassed by a few herds with serious mastitis problems (clinical outbreak of CA for example). Seventy percent of the goat herds studied were in compliance with the proposed European Union legal limit of 1,500,000 cells/mL for goat milk.

Prognostic relations between inflammatory markers and mortality in diabetic patients with non-ST elevation acute coronary syndrome.

OBJECTIVE: To determine the differences in the inflammatory status between diabetic and non-diabetic patients and to evaluate the usefulness of C reactive protein, fibrinogen, and leucocyte count as predictors of death in diabetic patients with unstable coronary disease. DESIGN: Nested case-control comparisons of the inflammatory status between diabetic and non-diabetic patients. Prospective cohort analysis of C reactive protein concentration, fibrinogen concentration, and leucocyte count as predictors of cardiovascular death in diabetic patients. SETTING: Coronary care unit in Spain. PARTICIPANTS: 83 diabetic patients with non-ST elevation acute coronary syndrome and 83 sex and aged matched patients selected from 361 non-diabetic patients with non-ST elevation acute coronary syndrome. MAIN OUTCOME MEASURES: Plasma concentrations of C reactive protein and fibrinogen, and leucocyte count. Investigators contacted patients to assess clinical events. RESULTS: Concentrations of C reactive protein and fibrinogen, and leucocyte count on admission were higher in diabetic than in non-diabetic patients (7 mg/l v 5 mg/l, p = 0.020; 3.34 g/l v 2.90 g/l, p = 0.013; and 8.8 x 10(9)/l v 7.8 x 10(9)/l, p = 0.040). Among diabetic patients, these values were also higher in those who died during the 22 month follow up (13 mg/l v 6 mg/l, p = 0.001; 3.95 g/l v 3.05 g/l, p < 0.001; and 11.4 x 10(9)/l v 8.4 x 10(9)/l, p = 0.005). After adjustment for confounding factors, diabetic patients in the highest tertile of C reactive protein had a hazard ratio for cardiovascular death of 4.51 (95% confidence interval (CI) 1.62 to 12.55). Similar hazard ratios were for fibrinogen 3.74 (95% CI 1.32 to 10.62) and for leucocyte count 3.64 (95% CI 1.37 to 9.68). CONCLUSIONS: Inflammation appears more evident in diabetic than in non-diabetic patients with acute coronary syndrome. C reactive protein concentration, fibrinogen concentration, and leucocyte count constitute independent predictors of cardiovascular death in diabetics with unstable coronary disease.

Effect of freezing goat milk samples on recovery of intramammary bacterial pathogens.

With the aim of evaluating the effect of freezing goat milk samples on recovery of intramammary pathogens, 1200 milk samples from udder halves with subclinical intramammary infection were studied. Samples (20 ml) were frozen at -20 and at -80 degrees C. Thawing was carried out at room temperature at 7, 14, 21, 28, 58, 118, 178, 236 and 730 days after collection and bacteriological analyses were carried out to determine the number of colony forming units/ml (CFU/ml). Mixed model statistical analysis showed that bacterial group, temperature of storage, interaction of bacterial group and temperature of storage and the interaction of bacterial group, time and temperature of storage were statistically significant effects. For coagulase negative staphylococci (CNS), least squares means of log CFU/ml recovered at -20 and -80 degrees C were not different. Nevertheless, for Gram negative bacilli (GNB) a significant decrease was detected in samples frozen at -20 vs. -80 degrees C. At both temperatures and at different times of storage, significant increases were detected between log CFU/ml of CNS and values on day zero. At -20 degrees C, a significant decrease in GNB recovery was detected between freezing days zero and 730. This difference was not detected when goat milk samples infected by GNB were frozen at -80 degrees C. The results show that frozen milk samples can be useful in goat subclinical mastitis control programs.

[Ventricular tachycardia and cardiac hemochromatosis]. / Taquicardia ventricular y hemocromatosis cardíaca.

Hemochromatosis is characterized by an excessive iron deposit in different tissues. Cardiac involvement may be observed in one third of the patients due to hemochromatosis and occurs as a consequence of ferritin accumulation in the heart which on one hand induces alterations in systolic and diastolic ventricular function and on the other hand, an arrythmogenic substrate. The clinical manifestations can be indistinctly related to atrial tachyarrhythmia, ventricular tachyarrhythmia, atrio-ventricular blockade and congestive heart failure, with the first being the most frequent. We present the case of one patient with secondary hemochromatosis to repeated transfusions due to sideroblastic anemia with cardiac involvement, whose initial heart manifestations were recurrent atrial tachyarrhythmia and sustained ventricular tachycardia with syncope for which an automatic defibrillator was implanted.

Daily delivery of dietary nitrogen to the periphery is stable in rats adapted to increased protein intake.

Dietary nitrogen was traced in rats adapted to a 50% protein diet and given a meal containing 1.50 g (15)N-labeled protein (HP-50 group). This group was compared with rats usually consuming a 14% protein diet and fed a meal containing either 0.42 g (AP-14 group) or 1.50 g (AP-50 group) of (15)N-labeled protein. In the HP group, the muscle nonprotein nitrogen pool was doubled when compared with the AP group. The main adaptation was the enhancement of dietary nitrogen transferred to urea (2.2 +/- 0.5 vs. 1.3 +/- 0.1 mmol N/100 g body wt in the HP-50 and AP-50 groups, respectively). All amino acids reaching the periphery except arginine and the branched-chain amino acids were depressed. Consequently, dietary nitrogen incorporation into muscle protein was paradoxically reduced in the HP-50 group, whereas more dietary nitrogen was accumulated in the free nitrogen pool. These results underline the important role played by splanchnic catabolism in adaptation to a high-protein diet, in contrast to muscle tissue. Digestive kinetics and splanchnic anabolism participate to a lesser extent in the regulation processes.

[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]. / Enfermedad de Gaucher (homozigoto D409H/D409H): evolución con tratamiento enzimático sustitutivo.

Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular calcifications in late childhood. We report a 4-year-old patient, homozygous for the D409H mutation, who was diagnosed with Gaucher's disease at the age of 45days. Enzyme replacement therapy was started at the age of 2months. We report the patient's evolution after 4years of treatment.

Enfermedad de Gaucher (homozigoto D409H/D409H): evolución con tratamiento enzimático sustitutivo / Gaucher's disease with d409h/d409h genotype. Evolution with enzyme replacement therapy

La enfermedad de Gaucher se debe a mutaciones en el gen que codifica la glucocerebrosidasa. La mutación D409H es la tercera más frecuente en España y produce un fenotipo particular con apraxia oculomotora y calcificaciones cardiovasculares de presentación tardía. Se comunica un paciente de 4 años de edad, homozigoto para la mutación D409H, que fue díagnosticado a los 45 días de vida y que inició tratamiento enzimático sustitutivo a la edad de 2 meses. Se expone su evolución a los 4años de tratamiento (AU)

[Mitral prosthesis thrombosis treated by fibrinolysis with accelerated administration of r-TPA]. / Trombosis protésica mitral tratada mediante fibrinólisis con dosis acelerada de r-TPA.

We report the case of a 53-year-old patient with a mitral prosthesis hospitalized for heart failure. Diagnosis of mitral prosthetic thrombosis, led to a therapeutic disjunction between thrombolysis and surgery. Because of the high risk of surgical intervention, the patient was treated with r-TPA (accelerated infusion), showing immediate, successful response.

Postprandial modulation of dietary and whole-body nitrogen utilization by carbohydrates in humans.

BACKGROUND: Sucrose exerts a sparing effect on whole-body protein metabolism, mainly during the absorptive phase. OBJECTIVE: We aimed to characterize the acute postprandial effect of addition of sucrose on deamination of dietary and endogenous nitrogen, with particular consideration being given to the effects of bioavailability. DESIGN: Twenty-one subjects equipped with ileal tubes ingested (15)N-labeled soy protein combined with [(13)C]glycine, with (n = 10) or without (n = 11) sucrose. Dietary and endogenous ileal flow of nitrogen were determined from the ileal effluents. The kinetics of dietary amino acid transfer to the blood were characterized by (13)CO(2) enrichment in breath and (15)N enrichment in plasma amino acids. Deamination of dietary and endogenous amino acid was determined from body urea, urinary nitrogen, and (15)N enrichment. RESULTS: (13)CO(2) recovery in breath and (15)N plasma amino acid enrichments were highly correlated (R:(2) >/= 0.95, P: < 0.001, for both meals) and markedly delayed by sucrose (half-(13)CO(2) recovery: 274 min compared with 167 min), whereas exogenous and endogenous ileal nitrogen kinetics and balances remained unchanged. Addition of sucrose halved the early (0-2 h) deamination peak of dietary nitrogen and reduced endogenous nitrogen oxidation over the first 4 h. Both were reduced by 18-24% over the 8-h period after the meal. CONCLUSIONS: Without changing the nitrogen absorptive balance, sucrose markedly affected the bioavailability profile, which is governed by gastric emptying. Endogenous and dietary nitrogen were not spared in the same way and over the same periods, showing that the metabolism of endogenous and dietary nitrogen may be affected differently by nutritional modulation, even if the effects are of a similar magnitude over the entire postprandial period.