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1.
Enferm Intensiva (Engl Ed) ; 31(3): 120-130, 2020.
Article in English, Spanish | MEDLINE | ID: mdl-31629638

ABSTRACT

Major burns patients usually present hypothermia after suffering a thermal burn, due to exposure during the accident, cooling of the burn and transfer. There are methods of reheating to avoid this heat loss, where nursing care is key. OBJECTIVE: To analyse the constant temperature presented by large burns patients on admission to the Burns Unit and their progression over the first 72hours. METHOD: Retrospective cross-sectional descriptive observational study of patients with thermal burns affecting more than 15% of body surface area, from December 2010 to May 2018. By reviewing databases and clinical records, demographic data, qualitative variables (origin of burn, previous pathologies, mechanical ventilation and ABSI and BOBI scales) and quantitative variables (burn depth and extension, temperature at admission and taken every 8hours for 72hours). Absolute, relative frequencies and the statistics of the quantitative variables were analysed. The study was verified by statistical tests according to the variables and contingency tables. A logistic regression model was developed expressed in a ROC curve. RESULTS: Of the 57 patients included, 79.2% developed hypothermia on admission. They presented burns over 34.56%±16.64 of their body surface, with 28.04%±17.49 being deep burns. Mortality during the stay was 29.8%. The presence of hypothermia during the acute phase was statistically related to death during stay in the unit (p=.033). It was observed that hypothermia is directly related to the extent of the burn (p=.003). CONCLUSIONS: Due to the presence of hypothermia on admission, and to the fact that the average temperature does not exceed 36°C until at least 16hours after the burn, nurses must know and promptly administer adequate reheating measures to improve chances of survival in major burns.


Subject(s)
Burns/complications , Hypothermia/diagnosis , Hypothermia/etiology , Acute Disease , Adult , Aged , Aged, 80 and over , Cross-Sectional Studies , Female , Humans , Injury Severity Score , Male , Middle Aged , Monitoring, Physiologic , Retrospective Studies
2.
J Math Biol ; 76(4): 817-840, 2018 03.
Article in English | MEDLINE | ID: mdl-28712030

ABSTRACT

Eutrophication is a water enrichment in nutrients (mainly phosphorus) that generally leads to symptomatic changes and deterioration of water quality and all its uses in general, when the production of algae and other aquatic vegetations are increased. In this sense, eutrophication has caused a variety of impacts, such as high levels of Chlorophyll a (Chl-a). Consequently, anticipate its presence is a matter of importance to prevent future risks. The aim of this study was to obtain a predictive model able to perform an early detection of the eutrophication in water bodies such as lakes. This study presents a novel hybrid algorithm, based on support vector machines (SVM) approach in combination with the particle swarm optimization (PSO) technique, for predicting the eutrophication from biological and physical-chemical input parameters determined experimentally through sampling and subsequent analysis in a certificate laboratory. This optimization technique involves hyperparameter setting in the SVM training procedure, which significantly influences the regression accuracy. The results of the present study are twofold. In the first place, the significance of each biological and physical-chemical variables on the eutrophication is presented through the model. Secondly, a model for forecasting eutrophication is obtained with success. Indeed, regression with optimal hyperparameters was performed and coefficients of determination equal to 0.90 for the Total phosphorus estimation and 0.92 for the Chlorophyll concentration were obtained when this hybrid PSO-SVM-based model was applied to the experimental dataset, respectively. The agreement between experimental data and the model confirmed the good performance of the latter.


Subject(s)
Eutrophication , Lakes , Models, Biological , Algorithms , Animals , Chlorophyll A/analysis , Computational Biology , Lakes/chemistry , Lakes/microbiology , Lakes/parasitology , Mathematical Concepts , Phosphorus/analysis , Regression Analysis , Spain , Support Vector Machine , Water Microbiology , Water Pollution, Chemical/analysis
3.
Case Rep Crit Care ; 2015: 362506, 2015.
Article in English | MEDLINE | ID: mdl-26605093

ABSTRACT

Unexpected acute respiratory failure after anesthesia is a diagnostic challenge: residual neuromuscular blockade, bronchial hyperresponsiveness, laryngospasm, atelectasis, aspiration pneumonitis, and other more uncommon causes should be taken into account at diagnosis. Lung ultrasound and echocardiography are diagnostic tools that would provide the differential diagnosis. We report a suspected case of a transfusion related acute lung injury (TRALI) following administration of platelets. The usefulness of lung and cardiac ultrasound is discussed to facilitate the challenging diagnosis of the acute early postoperative respiratory failure.

4.
Environ Sci Pollut Res Int ; 22(1): 387-96, 2015 Jan.
Article in English | MEDLINE | ID: mdl-25077653

ABSTRACT

The purposes and intent of the authorities in establishing water quality standards are to provide enhancement of water quality and prevention of pollution to protect the public health or welfare in accordance with the public interest for drinking water supplies, conservation of fish, wildlife and other beneficial aquatic life, and agricultural, industrial, recreational, and other reasonable and necessary uses as well as to maintain and improve the biological integrity of the waters. In this way, water quality controls involve a large number of variables and observations, often subject to some outliers. An outlier is an observation that is numerically distant from the rest of the data or that appears to deviate markedly from other members of the sample in which it occurs. An interesting analysis is to find those observations that produce measurements that are different from the pattern established in the sample. Therefore, identification of atypical observations is an important concern in water quality monitoring and a difficult task because of the multivariate nature of water quality data. Our study provides a new method for detecting outliers in water quality monitoring parameters, using turbidity, conductivity and ammonium ion as indicator variables. Until now, methods were based on considering the different parameters as a vector whose components were their concentration values. This innovative approach lies in considering water quality monitoring over time as continuous curves instead of discrete points, that is to say, the dataset of the problem are considered as a time-dependent function and not as a set of discrete values in different time instants. This new methodology, which is based on the concept of functional depth, was applied to the detection of outliers in water quality monitoring samples in the Nalón river basin with success. Results of this study were discussed here in terms of origin, causes, etc. Finally, the conclusions as well as advantages of the functional method are exposed.


Subject(s)
Rivers/chemistry , Water Pollutants, Chemical/analysis , Water Quality , Animals , Spain , Water Pollution, Chemical/analysis
6.
Environ Res ; 122: 1-10, 2013 Apr.
Article in English | MEDLINE | ID: mdl-23375084

ABSTRACT

Cyanotoxins, a kind of poisonous substances produced by cyanobacteria, are responsible for health risks in drinking and recreational waters. As a result, anticipate its presence is a matter of importance to prevent risks. The aim of this study is to use a hybrid approach based on support vector regression (SVR) in combination with genetic algorithms (GAs), known as a genetic algorithm support vector regression (GA-SVR) model, in forecasting the cyanotoxins presence in the Trasona reservoir (Northern Spain). The GA-SVR approach is aimed at highly nonlinear biological problems with sharp peaks and the tests carried out proved its high performance. Some physical-chemical parameters have been considered along with the biological ones. The results obtained are two-fold. In the first place, the significance of each biological and physical-chemical variable on the cyanotoxins presence in the reservoir is determined with success. Finally, a predictive model able to forecast the possible presence of cyanotoxins in a short term was obtained.


Subject(s)
Bacterial Toxins/analysis , Cyanobacteria , Marine Toxins/analysis , Microcystins/analysis , Support Vector Machine , Water Microbiology , Water Supply/analysis , Cyanobacteria Toxins , Forecasting , Regression Analysis , Spain
7.
Sci Total Environ ; 439: 54-61, 2012 Nov 15.
Article in English | MEDLINE | ID: mdl-23063638

ABSTRACT

Water quality controls involve large number of variables and observations, often subject to some outliers. An outlier is an observation that is numerically distant from the rest of the data or that appears to deviate markedly from other members of the sample in which it occurs. An interesting analysis is to find those observations that produce measurements that are different from the pattern established in the sample. Therefore, identification of atypical observations is an important concern in water quality monitoring and a difficult task because of the multivariate nature of water quality data. Our study provides a new method for detecting outliers in water quality monitoring parameters, using oxygen and turbidity as indicator variables. Until now, methods were based on considering the different parameters as a vector whose components were their concentration values. Our approach lies in considering water quality monitoring through time as curves instead of vectors, that is to say, the data set of the problem is considered as a time-dependent function and not as a set of discrete values in different time instants. The methodology, which is based on the concept of functional depth, was applied to the detection of outliers in water quality monitoring samples in San Esteban estuary. Results were discussed in terms of origin, causes, etc., and compared with those obtained using the conventional method based on vector comparison. Finally, the advantages of the functional method are exposed.


Subject(s)
Environmental Monitoring/methods , Environmental Monitoring/statistics & numerical data , Estuaries , Seawater/analysis , Statistics as Topic , Water Quality/standards , Models, Statistical , Multivariate Analysis , Spain
8.
Med. intensiva (Madr., Ed. impr.) ; 36(6): 402-409, ago.-sept. 2012. ilus, tab
Article in Spanish | IBECS | ID: ibc-107068

ABSTRACT

Objetivos: Analizar las características cronobiológicas y las variaciones temporales del paro cardiaco extrahospitalario (PCEH). Diseño: Estudio descriptivo retrospectivo. Pacientes: Todos los casos de PCEH de origen cardíaco registrados en la base de datos del servicio de emergencias médicas (SEM) de la Comunidad Autónoma de Castilla y León (España) durante 18 meses. Variables de interés principales: Edad, sexo, recuperación de la circulación espontánea, primer ritmo monitorizado (desfibrilable /no desfibrilable), lugar de alerta [(hogar, lugar público, centro atención primaria (AP)], testigo (familiar, transeúnte, fuerzas de seguridad, personal AP), hora de alerta (0-8; 8-16; 16-24), hora de activación del equipo de emergencias, hora de atención y día de la semana. Análisis univariante mediante Chi2, varianza y tests no paramétricos. Análisis cronobiológico mediante transformada rápida de Fourier y test Cosinor. Resultados: Se estudiaron 1.286 casos registrados entre enero 2007 y junio 2008. Se observaron diferencias estadísticas significativas en menor edad (p<0,05), mayor incidencia en el hogar (p<0,001) y mayor frecuencia de familiares-convivientes como testigos (p<0,001) en el periodo de 0-8h. El análisis cronobiológico mostró ritmo diario (circadiano) con acrofase a las 11:16h (p<0,001) y ritmo semanal (circaseptano) con acrofase en miércoles (p<0,05). Las medianas de intervalos alerta-atención y activación-atención fueron respectivamente 11,7min y 8,0min, sin diferencias entre periodos horarios. Conclusiones: Se demuestra la presencia de un ritmo diario de aparición del PCEH con pico matinal y un ritmo semanal con pico en miércoles. Estos resultados orientan al ajuste preventivo y a la planificación de recursos y mejoras en la respuesta, en determinados periodos horarios (AU)


Objectives: To analyze the chronobiological and time variations of out- hospital cardiac arrest (OHCA). Design: A retrospective descriptive study was made. Patients: All cases of OHCA of cardiac origin registered over 18 months in the database of the emergency medical service (EMS) of the Autonomous Community of Castilla y León (Spain) were evaluated. Variables analyzed: Age, sex, recovery of spontaneous circulation (ROSC), first monitored rhythm (amenable / not amenable to defibrillation), alert site [(home, public place, primary care (PC) center], alerting person (family, witness, law enforcement member, PC center staff), alert time (0-8; 8-16; 16-24), emergency team activation time, care time and day of the week. Univariate analysis (chi-squared), variance, and nonparametric tests comparing the variables in three periods of 8hours. Chronobiological analysis by fast Fourier transform and Cosinor testing. Results: We studied 1286 cases reported between January 2007 and June 2008. Statistically significant differences were observed in terms of younger age, higher incidence in the victim's home, and greater frequency of family-cohabiting persons as witnesses in the period between 0 and 8hours. Chronobiological analysis found daily rhythm (circadian) with acrophase at 11.16h (p<0.001) and weekly rhythm (circaseptan) with acrophase on Wednesday (p<0.05). The median alert time-care time interval and emergency team activation time-care time were 11.7min and 8.0min, respectively, without differences between periods. Conclusions: We have demonstrated the presence of a daily rhythm of emergence of OHCA with a morning peak and a weekly rhythm with a peak on Wednesdays. These results can guide the planning of resources and improvements in response in certain time periods (AU)


Subject(s)
Humans , Chronobiology Disorders/epidemiology , Heart Arrest/physiopathology , Retrospective Studies , Systole/physiology , 25631/statistics & numerical data , Cardiopulmonary Resuscitation
9.
Sci Total Environ ; 430: 88-92, 2012 Jul 15.
Article in English | MEDLINE | ID: mdl-22634554

ABSTRACT

Cyanotoxins, a kind of poisonous substances produced by cyanobacteria, are responsible for health risks in drinking and recreational water uses. The aim of this study is to improve our previous and successful work about cyanotoxins prediction from some experimental cyanobacteria concentrations in the Trasona reservoir (Asturias, Northern Spain) using the multivariate adaptive regression splines (MARS) technique at a local scale. In fact, this new improvement consists of using not only biological variables, but also the physical-chemical ones. As a result, the coefficient of determination has improved from 0.84 to 0.94, that is to say, more accurate predictive calculations and a better approximation to the real problem were obtained. Finally the agreement of the MARS model with experimental data confirmed the good performance.


Subject(s)
Bacterial Toxins/analysis , Cyanobacteria/chemistry , Lakes/microbiology , Cyanobacteria/growth & development , Environmental Monitoring , Lakes/analysis , Lakes/chemistry , Multivariate Analysis , Phytoplankton/chemistry , Phytoplankton/growth & development , Regression Analysis , Seasons , Spain
10.
Emergencias (St. Vicenç dels Horts) ; 24(1): 28-34, feb. 2012. ilus, tab
Article in Spanish | IBECS | ID: ibc-96102

ABSTRACT

Objetivo: Analizar las características generales de la parada cardiaca extrahospitalaria(PCEH) en una comunidad autónoma y los factores asociados a la recuperación de la circulación espontánea (RCE).Método: Estudio descriptivo retrospectivo de las PCEH de origen cardiaco incluidas en la base de datos del servicio de emergencias (SEM) de Castilla y León en un periodo de18 meses. El objetivo primario fue la RCE. Las variables analizadas fueron la edad, sexo, ritmo desfibrilable (DF), lugar del paro, testigo, intervalo alerta-atención inicial e intervalo despacho SEM-atención inicial. Resultados: Se estudiaron 1.286 PCEH, que representan 0,34 casos/1.000 habitantes/año. La mediana de edad fue de 73,0 años (rango intercuartílico 21,0), y el66,5% fueron hombres. Se consiguió RCE en el 22,2%. Las características de la PCEH fueron: ritmo DF 15,3%; en el hogar 72,2%, en un lugar público 21,3%, en un centro atención primaria (AP) 6,5%; presenciada por un familiar 49,1%, por un transeúnte 31,6%, por fuerzas seguridad 2,6% y por personal AP 15,7%. Fueron variables independientes asociadas a la RCE: edad inferior a 50 años [OR 1,6 (IC 95%: 1,03; 2,4)],ritmo DF [OR 3,8 (IC 95%: 2,7; 5,3)], lugar del paro en centro AP [OR 2,7 (IC 95%:1,4; 4,9)] y en lugar público [OR 1,8 (IC 95%: 1,2; 2,7)].Conclusiones: La incidencia de PCEH fue similar a otras series europeas. Destaca el bajo porcentaje de ritmos DF. Se confirma el hogar como lugar de más frecuente presentación, y una menor edad, la presencia de ritmos DF y la presentación en lugares públicos o centros sanitarios, como factores independientes asociados a RCE (AU)


Objective: To analyze the general characteristics out of hospital cardiac arrest (OHCA) including the frecuency of return of spontaneous circulation and related factors. Methods: Retrospective descriptive analysis of cases of OHCA in the records of the emergency medical service of Castile-Leon covering a period of 18 months. The main independent outcome analyzed was return of spontaneous circulation. Independent variables analyzed were age, sex, presence of shockable rhythm, location of cardiac arrest, witness, time between emergency call and initiation of care, and time between ambulance dispatch and initiation of care. Results: The EMS attended a total of 1286 cases of OHCA, representing an annual incidence of 0.34 cases per 1000 population. The median age (interquartile range) was 73.0 (21.0) years; 66.5% of the patients were men, spontaneous circulation returned in 22.2%, and a shockable rhythm was present in 15.3%. Cardiac arrest occurred in the home in72.2% of the cases, in a public place in 21.3%, and at a primary health care clinic in 6.5%. Witnesses were a familymember (49.1%), a passer-by (31.6%), a member of a security force (2.6%), and a primary care staff member (15.7%).Independent variables related to return of spontaneous circulation were age under 50 years (odds ratio [OR], 1.6; 95% confidence interval [CI], 1.03-2.4), presence of a shockable rhythm (OR, 3.8; 95% CI, 2.7-5.3); cardiac arrest at a primary health care clinic (OR, 2.7; 95% CI, 1.4-4.9) or in a public place (OR, 1.8; 95% CI, 1.2-2.7).Conclusions: The incidence of OHCA was similar to that reported for other European series. The low percentage of shockable rhythm was noteworthy. The home was confirmed as the most common setting for cardiac arrest; lower age, presence of shockable rhythm, occurrence of cardiac arrest in a public place or at a primary care clinic were confirmed as variables independently associated with return of spontaneous circulation (AU)


Subject(s)
Humans , Heart Arrest/epidemiology , Emergency Medical Services/statistics & numerical data , Cardiopulmonary Resuscitation/statistics & numerical data , Prehospital Care , Retrospective Studies
11.
Med Intensiva ; 36(6): 402-9, 2012.
Article in Spanish | MEDLINE | ID: mdl-22209466

ABSTRACT

OBJECTIVES: To analyze the chronobiological and time variations of out- hospital cardiac arrest (OHCA). DESIGN: A retrospective descriptive study was made. PATIENTS: All cases of OHCA of cardiac origin registered over 18 months in the database of the emergency medical service (EMS) of the Autonomous Community of Castilla y León (Spain) were evaluated. VARIABLES ANALYZED: Age, sex, recovery of spontaneous circulation (ROSC), first monitored rhythm (amenable / not amenable to defibrillation), alert site [(home, public place, primary care (PC) center], alerting person (family, witness, law enforcement member, PC center staff), alert time (0-8; 8-16; 16-24), emergency team activation time, care time and day of the week. Univariate analysis (chi-squared), variance, and nonparametric tests comparing the variables in three periods of 8 hours. Chronobiological analysis by fast Fourier transform and Cosinor testing. RESULTS: We studied 1286 cases reported between January 2007 and June 2008. Statistically significant differences were observed in terms of younger age, higher incidence in the victim's home, and greater frequency of family-cohabiting persons as witnesses in the period between 0 and 8 hours. Chronobiological analysis found daily rhythm (circadian) with acrophase at 11.16 h (p<0.001) and weekly rhythm (circaseptan) with acrophase on Wednesday (p<0.05). The median alert time-care time interval and emergency team activation time-care time were 11.7 min and 8.0 min, respectively, without differences between periods. CONCLUSIONS: We have demonstrated the presence of a daily rhythm of emergence of OHCA with a morning peak and a weekly rhythm with a peak on Wednesdays. These results can guide the planning of resources and improvements in response in certain time periods.


Subject(s)
Circadian Rhythm , Emergency Medical Services/statistics & numerical data , Heart Arrest/physiopathology , Age Factors , Aged , Ambulances/statistics & numerical data , Cardiopulmonary Resuscitation/statistics & numerical data , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/prevention & control , Electric Countershock/statistics & numerical data , Emergency Responders/statistics & numerical data , Family , Female , Fourier Analysis , Heart Arrest/epidemiology , Hotlines/statistics & numerical data , Humans , Male , Middle Aged , Patient Acceptance of Health Care/statistics & numerical data , Residence Characteristics , Retrospective Studies , Spain/epidemiology , Time Factors , Ventricular Fibrillation/epidemiology , Ventricular Fibrillation/physiopathology , Ventricular Fibrillation/therapy
12.
J Hazard Mater ; 195: 414-21, 2011 Nov 15.
Article in English | MEDLINE | ID: mdl-21920665

ABSTRACT

There is an increasing need to describe cyanobacteria blooms since some cyanobacteria produce toxins, termed cyanotoxins. These latter can be toxic and dangerous to humans as well as other animals and life in general. It must be remarked that the cyanobacteria are reproduced explosively under certain conditions. This results in algae blooms, which can become harmful to other species if the cyanobacteria involved produce cyanotoxins. In this research work, the evolution of cyanotoxins in Trasona reservoir (Principality of Asturias, Northern Spain) was studied with success using the data mining methodology based on multivariate adaptive regression splines (MARS) technique. The results of the present study are two-fold. On one hand, the importance of the different kind of cyanobacteria over the presence of cyanotoxins in the reservoir is presented through the MARS model and on the other hand a predictive model able to forecast the possible presence of cyanotoxins in a short term was obtained. The agreement of the MARS model with experimental data confirmed the good performance of the same one. Finally, conclusions of this innovative research are exposed.


Subject(s)
Bacterial Toxins/analysis , Cyanobacteria/chemistry , Microcystins/analysis , Cyanobacteria/growth & development , Data Mining , Multivariate Analysis , Spain
13.
Arch Dis Child ; 96(6): 565-6, 2011 Jun.
Article in English | MEDLINE | ID: mdl-20584847

ABSTRACT

An algorithm is described whereby the threshold for thyroid-stimulating hormone used in neonatal screening for congenital hypothyroidism is re-set for each run on the basis of the variation and values of measurements of certified samples.


Subject(s)
Congenital Hypothyroidism/diagnosis , Thyrotropin/blood , Algorithms , Biomarkers/blood , Humans , Infant, Newborn , Neonatal Screening/methods , Reference Values
14.
Mol Genet Metab ; 101(2-3): 95-8, 2010.
Article in English | MEDLINE | ID: mdl-20638312

ABSTRACT

After briefly recalling the main events leading to the establishment of newborn screening programmes, this paper details the early history of their introduction in Spain and sketches their expansion to cover the whole Spanish population. Spain is exceptional in that its screening methods have in general been based on planar chromatographic techniques developed or inspired by Louis I. Woolf, rather than on bacterial inhibition tests, as is illustrated by the practice of the newborn screening laboratory of Galicia (N.W. Spain).


Subject(s)
Neonatal Screening/history , History, 20th Century , History, 21st Century , Humans , Infant, Newborn , Mass Screening , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/history , Phenylketonurias/diagnosis , Phenylketonurias/history , Spain
15.
J Clin Lab Anal ; 24(3): 149-53, 2010.
Article in English | MEDLINE | ID: mdl-20486194

ABSTRACT

BACKGROUND: The fact that mucopolysaccharidoses (MPSes) are now treatable, and that the earlier treatment is initiated the better, is an indication for neonatal screening. The most efficient approach seems likely to be a multi-tier procedure in which screening for urinary glycosaminoglycan (GAG) is followed by enzyme determinations in heelprick blood of newborns screening positive. Hitherto the method of choice for the determination of GAG has been the measurement of absorbance by a complex of GAG and 1,9-dimethylmethylene blue (DMB). METHOD: We evaluated a DMB method in which absorbance by DMB is measured following its addition to the eluate obtained from paper-borne newborn urine samples and is normalized relative to urinary creatinine. Calibration is performed with chondroitin-6-sulfate (Ch-6-S). RESULTS: The limits of detection and quantification of GAG were 1.98 and 5.94 mg/dl, respectively. The within-run coefficients of variation (CVs) of the GAG/creatinine ratio for 25, 31, and 70 mg/dl solutions of Ch-6-S in urine were 21.8, 16.4, and 10.5%, respectively, and the corresponding between-run CVs were 25.0, 13.5, and 10.1%. Recovery from the urine spiked with 31 mg Ch-6-S/dl was 94.8%. Accuracy was also acceptable for all other GAGs except hyaluronic acid. For neonatal screening, the diagnostic threshold was tentatively established as 800 mg GAG/g creatinine, the 95th centile of samples from 903 infants aged 3-28 days, but the value of the GAG/creatinine ratio was negatively correlated with age. Application of the new method to samples from older individuals with and without MPS achieved 100% sensitivity and specificity when used with an age-dependent threshold taken from the literature on the original DMB method. CONCLUSION: If used in the first tier of a multi-tier screening protocol, the proposed method would allow the detection of abnormal levels of all GAGs except hyaluronic acid.


Subject(s)
Glycosaminoglycans/urine , Methylene Blue/analogs & derivatives , Mucopolysaccharidoses/diagnosis , Mucopolysaccharidoses/urine , Neonatal Screening/methods , Paper , Aging/urine , Calibration , Chondroitin Sulfates/chemistry , Chondroitin Sulfates/urine , Creatinine/urine , Dermatan Sulfate/chemistry , Dermatan Sulfate/urine , Glycosaminoglycans/chemistry , Heparin/chemistry , Heparin/urine , Heparinoids/chemistry , Heparinoids/urine , Humans , Hyaluronic Acid/chemistry , Hyaluronic Acid/urine , Infant, Newborn , Methylene Blue/chemistry , Reproducibility of Results , Sensitivity and Specificity
16.
J Clin Lab Anal ; 24(2): 106-12, 2010.
Article in English | MEDLINE | ID: mdl-20333764

ABSTRACT

We describe the history and current implementation of an inexpensive thin layer chromatography (TLC) method, vertical sandwich-type continuous/evaporative TLC with fixed mobile phase volume, that is convenient for detecting and identifying reducing sugars of clinical relevance in the paper-borne blood and urine samples collected in neonatal screening programmes. This method facilitates screening by providing a considerable degree of standardization of chromatographic results. Among some 555,000 newborns to which it has been applied, it has detected 10 cases of classical galactosaemia, 7 cases of galactokinase deficiency, 2 cases of glucosuria, and 3 cases of transitory neonatal diabetes mellitus; the only false negatives we are aware of were two cases of galacto-4-epimerase deficiency detected by tandem mass spectrometry. Screening for sugars in urine has allowed the detection of galactosaemia when the accompanying blood sample was invalid because of transfusion or parenteral feeding. The conclusion is that this inexpensive procedure is very useful for the detection of relevant metabolopathies in circumstances where others fail.


Subject(s)
Carbohydrates/blood , Carbohydrates/urine , Infant, Newborn, Diseases/diagnosis , Neonatal Screening/methods , Chromatography, Thin Layer/methods , Diabetes Mellitus/blood , Diabetes Mellitus/diagnosis , Diabetes Mellitus/urine , Galactose/blood , Galactose/urine , Galactosemias/blood , Galactosemias/diagnosis , Galactosemias/urine , Humans , Infant, Newborn , Paper
17.
J Med Screen ; 16(4): 205-11, 2009.
Article in English | MEDLINE | ID: mdl-20054096

ABSTRACT

Early diagnosis of phenylketonuria (PKU) became a goal worth pursuing following demonstration of the efficacy of the dietary treatment conceived by Louis I Woolf. This paper narrates the history of this treatment, describes Woolf's role in the establishment of neonatal PKU screening and surveys his other contributions to our understanding of this condition. If Woolf, Centerwall, Baird and Berry had waited until all the scientific evidence about PKU that is now at our disposal had been brought to light, there would still be no neonatal screening programmes.


Subject(s)
Phenylketonurias/diagnosis , Early Diagnosis , Genetics, Population , History, 20th Century , Humans , Infant, Newborn , Neonatal Screening , Phenylketonurias/diet therapy , Phenylketonurias/genetics
18.
J Cyst Fibros ; 7(6): 520-2, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18676185

ABSTRACT

We report three novel CFTR missense mutations detected in Spanish patients from Galicia (North West of Spain). In the first case, a patient homozygous for a novel S1045Y mutation died due to pulmonary problems. In the other two cases, both heterozygous for novel mutations combined with the F508del mutation, clinical symptoms were different depending on the mutation, detected as M595I and A107V.


Subject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/genetics , Mutation, Missense/genetics , Adolescent , Adult , Cystic Fibrosis/complications , Cystic Fibrosis/pathology , Exons/genetics , Female , Humans , Male , Spain
20.
An Med Interna ; 24(12): 599-601, 2007 Dec.
Article in Spanish | MEDLINE | ID: mdl-18279000

ABSTRACT

We submit the case of a male patient, suffering from a tuberculous ethiology adrenal primary insufficiency, showing a dermal lesion, in which necrotizing granulomas were found, and from which bacterial culture growth yielded mycobacterium bovis. Given the clinical findings, and awaiting for the bacterial culture result, a triple treatment with tuberculostatics was started, but had to be discontinued because of hepatic toxicity. After culture of cutaneous biopsy yielded micobaterium tuberculosis, treatment with streptomycin, rifampicin and etambutol was restarted. Three weeks later, in spite of increasing hydrocortisone dose to 40 mg, adrenal insufficiency reappeared. Under the circumstances, we chose to continue rifampicin and double hydrocortisone dose. The case is of concern because of the concurrency of three nowadays infrequent disorders: tuberculous ethiology adrenal insufficiency, cutaneous tuberculosis due to mycobacterium bovis and primary adrenal insufficiency due to rifampicin treatment, the latter resolved after increasing hydrocortisone dose.


Subject(s)
Addison Disease/etiology , Adrenal Gland Diseases/complications , Mycobacterium bovis , Tuberculosis, Cutaneous/complications , Tuberculosis, Endocrine/complications , Addison Disease/chemically induced , Adrenal Gland Diseases/drug therapy , Aged , Antibiotics, Antitubercular/adverse effects , Humans , Hyperpigmentation/etiology , Male , Rifampin/adverse effects , Tuberculosis, Cutaneous/drug therapy , Tuberculosis, Endocrine/drug therapy
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