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1.
Histol Histopathol ; 32(12): 1351-1358, 2017 Dec.
Article in English | MEDLINE | ID: mdl-28585678

ABSTRACT

The endocannabinoids are cannabinoids synthesized by mammalian tissues. These compounds are closely related to the regulation of the male reproductive system. However, little is known about the effects produced by 2-arachidonoylglycerol (2AG) on in vitro human sperm functions. This study was undertaken to determine the effects produced by 2AG on fresh human sperm and in the capacitation technique. Semen samples from healthy young men were exposed to different concentrations of 2AG before and during capacitation technique. In this work, we have demonstrated that 2AG induces the spontaneous acrosome reaction and reduces progressive motility in fresh human sperm. During the capacitation technique, sperm becomes more sensitive to low concentrations of 2AG, triggering the acrosome reaction and inhibiting protein phosphorylation. In summary, 2AG affects the in vitro functionality of human sperm by reducing motility, inhibiting capacitation and triggering the acrosome reaction.


Subject(s)
Acrosome Reaction/drug effects , Arachidonic Acids/toxicity , Endocannabinoids/toxicity , Glycerides/toxicity , Sperm Motility/drug effects , Spermatozoa/drug effects , Adolescent , Adult , Humans , Male , Young Adult
3.
Radiología (Madr., Ed. impr.) ; 56(5): 463-471, sept.-oct. 2014.
Article in Spanish | IBECS | ID: ibc-128343

ABSTRACT

Los epónimos reflejan la Historia de la Medicina, de las enfermedades y de los médicos, pero también de las sociedades en las que estos vivieron. Amados y odiados a partes iguales, el interminable debate acerca de si los epónimos deben seguir empleándose o desaparecer ha ganado vigencia desde que en los últimos años las sociedades científicas han despojado de sus epónimos a los médicos ligados al nazismo. Si hay un campo de la medicina en el que abundan los epónimos, es la radiología convencional del esqueleto. En este trabajo no intentaremos hacer una revisión exhaustiva de todos ellos, sino que emplearemos ejemplos significativos para intentar ilustrar lo que los epónimos aportan a la medicina y a la historia de la medicina (AU)


Eponyms reflect the history of medicine, of disease, and of physicians, but eponyms also reflect the history of the societies in which these physicians lived. Both loved and hated, eponyms are at the center of an interminable debate about whether they should continue to be used or whether they should disappear, and this debate has become more intense since some scientific societies have purged their terminologies of eponyms related to Nazism. Eponyms abound in conventional musculoskeletal radiology. In this article, rather than attempt an exhaustive review of all these eponyms, we take a few representative examples to illustrate the contributions of eponyms to medicine and the history of medicine (AU)


Subject(s)
Humans , Male , Female , Humanities/history , Eponyms , Skeleton , Musculoskeletal System , Bone and Bones , History of Medicine , Radiology/education , Radiology/history , Radiography, Thoracic/history , Radiology/methods , Orthopedics/education , Orthopedics/history , Mythology , Legg-Calve-Perthes Disease , Knee , Wrist
4.
Radiologia ; 56(5): 463-71, 2014.
Article in Spanish | MEDLINE | ID: mdl-25016436

ABSTRACT

Eponyms reflect the history of medicine, of disease, and of physicians, but eponyms also reflect the history of the societies in which these physicians lived. Both loved and hated, eponyms are at the center of an interminable debate about whether they should continue to be used or whether they should disappear, and this debate has become more intense since some scientific societies have purged their terminologies of eponyms related to Nazism. Eponyms abound in conventional musculoskeletal radiology. In this article, rather than attempt an exhaustive review of all these eponyms, we take a few representative examples to illustrate the contributions of eponyms to medicine and the history of medicine.


Subject(s)
Eponyms , Radiology , Bone and Bones , Civilization , History of Medicine , Humans , Mythology , National Socialism
5.
Biomed Res Int ; 2014: 928740, 2014.
Article in English | MEDLINE | ID: mdl-24563866

ABSTRACT

We have studied the use of coercive medical measures (forced medication, isolation, and mechanical restraint) in mentally ill inmates within two secure psychiatric hospitals (SPH) and three regular prisons (RP) in Spain. Variables related to adopted coercive measures were analyzed, such as type of measure, causes of indication, opinion of patient inmate, opinion of medical staff, and more frequent morbidity. A total of 209 patients (108 from SPH and 101 from RP) were studied. Isolation (41.35%) was the most frequent coercive measure, followed by mechanical restraint (33.17%) and forced medication (25.48%). The type of center has some influence; specifically in RP there is less risk of isolation and restraint than in SPH. Not having had any previous imprisonment reduces isolation and restraint risk while increases the risk of forced medication, as well as previous admissions to psychiatric inpatient units does. Finally, the fact of having lived with a partner before imprisonment reduces the risk of forced medication and communication with the family decreases the risk of isolation. Patients subjected to a coercive measure exhibited a pronounced psychopathology and most of them had been subjected to such measures on previous occasions. The mere fact of external assessment of compliance with human rights slows down the incidence of coercive measures.


Subject(s)
Hospitals, Psychiatric , Mentally Ill Persons/psychology , Prisons , Adult , Attitude , Female , Humans , Male
6.
Curr Med Res Opin ; 30(1): 19-26, 2014 Jan.
Article in English | MEDLINE | ID: mdl-24083660

ABSTRACT

OBJECTIVES: The aim of this study was to ascertain the factors associated with non-achievement of triglyceride (TG) goals in a cohort of hypertriglyceridemic patients attending the lipid clinics of the Spanish Arteriosclerosis Society (LC-SAS). METHODS: Patients with high TG levels (>2.2 mmol/L; 200 mg/dL) were included in this multicenter, prospective, observational study and followed up for 1 year. The TG goal was ≤2.2 mmol/L (200 mg/dL). Main limitations of this study are that etiologic diagnosis of hypertriglyceridemia was not done under unified criteria and drug compliance was not evaluated. RESULTS: From 1394 patients initially included in the study, 929 (age range: 50 ± 12 years, 26% women) were followed up for 1 year; 523 patients (56%) failed to reach the TG target. These patients were younger, had a higher body mass index (BMI), were more frequently smokers, hypertensive and diabetic and had more severe dyslipidemia. They were also more sedentary, their diet was of poorer quality and they had higher alcohol consumption. The independent predictors of treatment failure were hypertriglyceridemia severity, low high density lipoprotein cholesterol (HDL-C), and high non-HDL-C, alcohol consumption and a raised BMI, while drug treatment had no predictive power. CONCLUSION: Independent predictors of failure to achieve hypertriglyceridemia treatment goals are inappropriate lifestyle, evidenced by insufficient weight loss, alcohol consumption and dyslipidemia severity.


Subject(s)
Hydroxymethylglutaryl-CoA Reductase Inhibitors/therapeutic use , Hypertriglyceridemia/drug therapy , Triglycerides/blood , Alcohol Drinking , Blood Glucose , Body Mass Index , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Female , Humans , Life Style , Male , Middle Aged , Prospective Studies , Risk Factors , Treatment Outcome
7.
Reprod Biomed Online ; 28(2): 246-50, 2014 Feb.
Article in English | MEDLINE | ID: mdl-24365020

ABSTRACT

Tubulin is a protein constituent of cytoskeletal microtubules, closely related to sperm motility. However, the changes in tubulin distribution following capacitation and acrosome reaction are poorly understood. This study immunolocalized and quantified the expression of α-tubulin in fresh, capacitated and acrosome-reacted samples. Immunocytochemical data showed that in capacitated and acrosome-reacted spermatozoa, α-tubulin is labelled throughout most of the flagellum (⩾66.66%). However, the mean α-tubulin-labelled area in these samples was significantly lower than in fresh samples (P<0.05). Thus, there are different sperm clusters distinguished by their α-tubulin immunoreactivity and this could be directly linked to structural changes following capacitation and acrosome reaction.


Subject(s)
Acrosome Reaction/physiology , Sperm Capacitation/physiology , Spermatozoa/physiology , Tubulin/metabolism , Cluster Analysis , Humans , Immunohistochemistry , Male , Microscopy, Fluorescence , Tubulin/immunology
8.
Rev Esp Cir Ortop Traumatol ; 57(2): 89-94, 2013.
Article in Spanish | MEDLINE | ID: mdl-23608207

ABSTRACT

OBJECTIVE: To assess if a peripheral intravenous infusion of adipose tissue stem cells (ATSC), after an ischemic spinal cord injury can promote selective cell migration and cell survival in the damaged neural tissue. ANIMALS AND METHOD: An ischaemic spinal cord injury was provoked by trapping the abdominal aorta for 20 minutes in 11 male New Zealand rabbits (2.5±0.5kg). They were randomised into two groups: one group (n=5) received an intravenous transfusion of 10±2×10(6) ATSC at 24 hours from the injury, and the control group (n=6) were only given the vehicle. The functional status was assessed, using the Tarlov scale at 24h, and 7 and 14 days. The animals were sacrificed at 14 days and a histological and immunohistochemical study was performed. RESULTS: Complete paraplegia was achieved in both groups. There were no significant differences as regards neurological recovery, which was nil in both cases. In the histological and immunohistochemical study, it was tested to see if there was any bromodeoxyuridine-marked ATSC in the area of the lesion, but there was only a small amount. CONCLUSION: ATSC are able to migrate and survive in the injured spinal cord after aortic ischaemia after they have been administered intravenously. Intravenous infusion is a harmless procedure with no side effect. No neurological recovery was achieved.


Subject(s)
Adipose Tissue/cytology , Spinal Cord Injuries/surgery , Spinal Cord Ischemia/surgery , Stem Cell Transplantation/methods , Animals , Infusions, Intravenous , Male , Rabbits , Spinal Cord Injuries/complications , Spinal Cord Injuries/physiopathology , Spinal Cord Ischemia/etiology , Spinal Cord Ischemia/physiopathology
9.
J Fish Biol ; 82(3): 856-76, 2013 Mar.
Article in English | MEDLINE | ID: mdl-23464548

ABSTRACT

This study provides data on the genetic structuring of the pipefish Syngnathus abaster in the western Mediterranean and Adriatic Seas. A total of 109 specimens were collected in brackish-water biotopes. The control region and three other regions of the mitochondrial genome were analysed. The most relevant result was the high genetic structuring found by Bayesian inference (BI), maximum likelihood (ML) and network analyses, which were consistent in showing three well-separated clusters of S. abaster populations. Furthermore, BI and ML did not support the monophyly of the taxon S. abaster. These results suggest the occurrence of a species complex in the study area, whose differentiation may have occurred since the Pleistocene. The results also show a very high genetic variability at the inter-population level, with no shared haplotypes among sites. Evolutionary forces due to the fragmented nature of the brackish-water habitats may account for the high genetic divergence found among the groups and populations. Finally, although dispersal by rafting over long distances may occasionally occur, this study suggests linear stepping-stone model of colonization to be most likely. The complexity of the results obtained suggests that further studies are needed to elucidate the phylogeny of S. abaster.


Subject(s)
DNA, Mitochondrial/genetics , Evolution, Molecular , Genetic Variation , Phylogeny , Smegmamorpha/genetics , Animals , Bayes Theorem , Haplotypes , Likelihood Functions , Mediterranean Sea , Sequence Analysis, DNA
10.
Histol Histopathol ; 27(12): 1621-8, 2012 12.
Article in English | MEDLINE | ID: mdl-23059892

ABSTRACT

Capacitation is characterized by a hyperactivated pattern of sperm motility. The acquisition of highly motility is present in the early stages of capacitation. Sperm progressive motility is one of the most important parameters for determining the suitability of semen for processing. However, previous studies have shown that some sperm showing good motility have membrane damage. The aim of our study was to characterize the lectin staining pattern on the sperm plasma membrane of unselected and selected human sperm of normozoospermic donors. Sperm selection was performed by the swim-up technique. Fourteen samples from healthy consenting donors classified as normozoospermic according to the World Health Organization were used. We observed changes in the distribution of the carbohydrate residues after the swim-up selection. With Triticum vulgaris, the most abundant pattern was dotted labeling all over the head plasma membrane in the unselected sperm. However, this lectin was distributed homogenously over the acrosomal region after selection. With Arachis hypogaea, the most abundant pattern in fresh sperm was a highly stained acrosomal region. In the highly motility sperm population, the most frequent pattern was dotted fluorescence on the acrosomal region and a highly stained equatorial segment. Meanwhile, with the Aleuria aurantia and Canavalia ensiformis lectins, the most representative patterns were the same before and after the swim-up selection. Our data indicate that modifications which occur in carbohydrate residues during swim-up selection could be important for the regulation of progressive motility and prepare the sperm for capacitation.


Subject(s)
Lectins/metabolism , Spermatozoa/metabolism , Acrosome/metabolism , Binding Sites , Cell Membrane/metabolism , Cell Separation/methods , Concanavalin A/metabolism , Humans , Male , Peanut Agglutinin/metabolism , Receptors, Mitogen/metabolism , Sperm Capacitation/physiology , Sperm Motility/physiology , Spermatozoa/physiology , Staining and Labeling , Wheat Germ Agglutinins/metabolism
11.
Rev Esp Sanid Penit ; 13(2): 44-51, 2011.
Article in Spanish | MEDLINE | ID: mdl-21750854

ABSTRACT

OBJECTIVE: This sub-analysis was designed within the framework of the EPIBAND study to establish the reasons why prison patients do not initiate HCV treatment. METHODS: Epidemiological, prospective, multicentre study conducted in 26 centres. We present the results from those patients included in the EPIBAND study who did not initiate HCV treatment for different reasons. RESULTS: A total of 195 patients were evaluated (average age 39 ± 6.6 years, 86.7% male and 96.9% Spanish nationality). The reasons why this population did not initiate HCV treatment were secondary ones relating to the patient (41%), medical reasons (30.8%), and the prison environment (3.6%). 47.5% of patients reported lack of awareness and motivation, and 18.8% did not initiate treatment as a result of adverse events. Immunological status (35%). as well as psychiatric and neurological disorders (28.3%) were the main medical reasons for contraindication. Aspects associated to prison environment such as impending release or change of prison (64.4%) were among the various reasons that influenced treatment initiation. CONCLUSIONS: Lack of motivation and awareness in patients as well as adverse events were the main reasons for not initiating therapy. These factors are subjective, modifiable aspects that depend on patient education and adequate medical care.


Subject(s)
Antiviral Agents/therapeutic use , Hepatitis C, Chronic/drug therapy , Interferon-alpha/therapeutic use , Polyethylene Glycols/therapeutic use , Prisoners/psychology , Refusal to Treat/statistics & numerical data , Ribavirin/therapeutic use , Treatment Refusal/statistics & numerical data , Adult , Comorbidity , Contraindications , Cross-Sectional Studies , Female , HIV Infections/complications , Health Knowledge, Attitudes, Practice , Hepatitis C, Chronic/complications , Hepatitis C, Chronic/psychology , Humans , Interferon alpha-2 , Male , Prisons , Prospective Studies , Recombinant Proteins , Spain , Treatment Refusal/psychology
12.
Arch Microbiol ; 192(12): 1023-30, 2010 Dec.
Article in English | MEDLINE | ID: mdl-20878147

ABSTRACT

The aim of this research was to show the mathematical data obtained through the correlations found between the physical and chemical characteristics of casing layers and the final mushrooms' properties. For this purpose, 8 casing layers were used: soil, soil + peat moss, soil + black peat, soil + composted pine bark, soil + coconut fibre pith, soil + wood fibre, soil + composted vine shoots and, finally, the casing of La Rioja subjected to the ruffling practice. The conclusion that interplays in the fructification process with only the physical and chemical characteristics of casing are complicated was drawn. The mathematical data obtained in earliness could be explained in non-ruffled cultivation. The variability observed for the mushroom weight and the mushroom diameter variables could be explained in both ruffled and non-ruffled cultivations. Finally, the properties of the final quality of mushrooms were established by regression analysis.


Subject(s)
Agaricus/growth & development , Models, Biological , Soil Microbiology , Soil/chemistry , Cocos , Plants , Sphagnopsida , Wood
13.
Ann Biomed Eng ; 38(7): 2358-70, 2010 Jul.
Article in English | MEDLINE | ID: mdl-20232149

ABSTRACT

Surface electroenterogram (EEnG) recording is a novel technique for monitoring intestinal motility non-invasively. However, surface EEnG recordings are contaminated by cardiac activity, the respiratory artefact, movement artefacts and other types of interference. The goal of this work is to remove electrocardiogram (ECG) interference and movement artefacts from surface EEnG by means of a combined method of empirical mode decomposition and independent component analysis. For this purpose, 11 recording sessions were conducted on animal models. In order to quantify the effectiveness of the proposed method, several parameters were calculated from each session: signal-to-ECG interference ratio (S/I), energy over 2 Hz (EF2) which quantifies the intestinal motility index of external EEnG recording and the variation of EF2. The proposed method removes both ECG interference and movement artefacts from surface EEnG, obtaining a significantly higher S/I ratio and considerably reducing the non-physiological variation of EF2. Furthermore, after applying the combined method, the correlation coefficient between internal recording EF2 and surface recording EF2 rises significantly. The proposed method could therefore be a useful tool to reduce high frequency interference in EEnG recording and to provide more robust non-invasive intestinal motility indexes.


Subject(s)
Artifacts , Electrocardiography , Movement , Animals , Dogs , Gastrointestinal Motility/physiology
14.
Phys Med Biol ; 55(3): 663-80, 2010 Feb 07.
Article in English | MEDLINE | ID: mdl-20071756

ABSTRACT

Myoelectrical recording could provide an alternative technique for assessing intestinal motility, which is a topic of great interest in gastroenterology since many gastrointestinal disorders are associated with intestinal dysmotility. The pacemaker activity (slow wave, SW) of the electroenterogram (EEnG) has been detected in abdominal surface recordings, although the activity related to bowel contractions (spike bursts, SB) has to date only been detected in experimental models with artificially favored electrical conductivity. The aim of the present work was to assess the possibility of detecting SB activity in abdominal surface recordings under physiological conditions. For this purpose, 11 recording sessions of simultaneous internal and external myolectrical signals were conducted on conscious dogs. Signal analysis was carried out in the spectral domain. The results show that in periods of intestinal contractile activity, high-frequency components of EEnG signals can be detected on the abdominal surface in addition to SW activity. The energy between 2 and 20 Hz of the surface myoelectrical recording presented good correlation with the internal intestinal motility index (0.64 +/- 0.10 for channel 1 and 0.57 +/- 0.11 for channel 2). This suggests that SB activity can also be detected in canine surface EEnG recording.


Subject(s)
Electrodiagnosis/methods , Intestines/physiology , Muscle Contraction/physiology , Animals , Dogs , Duodenum/physiology , Electrocardiography , Electrodes, Implanted , Evoked Potentials, Motor , Ileum/physiology , Jejunum/physiology , Respiration , Signal Processing, Computer-Assisted , Time Factors
15.
Article in English | MEDLINE | ID: mdl-19965173

ABSTRACT

The improvement of the quality of electroenterogram (EEnG) recordings on abdominal surface could lead to a non-invasive technique to diagnose intestinal motility dysfunctions. In this context, the use of coaxial active electrodes, which permit to record the laplacian potential, can help to achieve such signal enhancement. In this paper, we present a methodology to obtain the maps of sensitivity of this kind of electrodes to pick up the activity of electric dipoles of different orientations. The proposed methodology employs mathematical models, as well as experimental studies (phantoms) to check the theoretical results. The mathematical model of the electrode, and of the human abdomen is developed by means of ANSYS. A simplified physical model is formed by real ring electrodes, a methacrylate tank of size 50 x 50 x 50 cm filled with a saltwater mixture of 2.5 g/l concentration, and moving electric dipoles made by wires of 0.3 mm in diameter. Sensitivity of the sensor is obtained for different depths and different axial distances of vertical and horizontal dipoles. Preliminary results of tripolar ring electrodes in bipolar configuration (TCB) are shown. The obtained results prove the agreement between mathematical and experimental results. The validated model will allow us to study the behavior of laplacian ring electrodes of different dimensions and materials to record the EEnG activity and to analyze the influence of the abdominal layers.


Subject(s)
Electromyography/instrumentation , Electrophysiology/instrumentation , Gastrointestinal Motility/physiology , Muscle, Smooth/physiology , Abdomen/pathology , Biomedical Engineering/methods , Electrodes , Electromyography/methods , Electrophysiology/methods , Equipment Design , Humans , Methacrylates/chemistry , Models, Theoretical , Phantoms, Imaging , Signal Processing, Computer-Assisted/instrumentation
16.
Physiol Meas ; 30(9): 885-902, 2009 Sep.
Article in English | MEDLINE | ID: mdl-19636086

ABSTRACT

Surface recording of electroenterogram (EEnG) is a non-invasive method for monitoring intestinal myoelectrical activity. However, surface EEnG is seriously affected by a variety of interferences: cardiac activity, respiration, very low frequency components and movement artefacts. The aim of this study is to eliminate respiratory interference and very low frequency components from external EEnG recording by means of empirical mode decomposition (EMD), so as to obtain more robust indicators of intestinal pacemaker activity from the external EEnG signal. For this purpose, 11 recording sessions were performed in an animal model under fasting conditions and in each individual session the myoelectrical signal was recorded simultaneously in the intestinal serosa and the external abdominal surface in physiological states. Various parameters have been proposed for evaluating the efficacy of the method in reducing interferences: the signal-to-interference ratio (S/I ratio), attenuation of the target and interference signals, the normal slow wave percentage and the stability of the dominant frequency (DF) of the signal. The results show that the S/I ratio of the processed signals is significantly greater than the original values (9.66 +/- 4.44 dB versus 1.23 +/- 5.13 dB), while the target signal was barely attenuated (-0.63 +/- 1.02 dB). The application of the EMD method also increased the percentage of the normal slow wave to 100% in each individual session and enabled the stability of the DF of the external signal to be increased considerably. Furthermore, the variation coefficient of the DF derived from the external processed signals is comparable to the coefficient obtained using internal recordings. Therefore, the EMD method could be a very useful tool to improve the quality of external EEnG recording in the low frequency range and therefore to obtain more robust indicators of the intestinal pacemaker activity from non-invasive EEnG recordings.


Subject(s)
Biological Clocks/physiology , Electromyography/methods , Intestines/physiology , Algorithms , Animals , Dogs , Electrodes , Electrophysiology , Gastrointestinal Motility/physiology , Signal Processing, Computer-Assisted
17.
An Pediatr (Barc) ; 69(3): 239-43, 2008 Sep.
Article in Spanish | MEDLINE | ID: mdl-18775269

ABSTRACT

INTRODUCTION: Glutaric Acidaemia type I (GA-I) is an autosomal recessive progressive neurodegenerative inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase (GCDH). In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked. OBJECTIVE: To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. MATERIAL AND METHODS: We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. RESULTS: Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with encephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. CONCLUSIONS: Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles.


Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/therapy , Glutarates/blood , Early Diagnosis , Female , Humans , Infant, Newborn , Male , Prognosis
18.
An. pediatr. (2003, Ed. impr.) ; 69(3): 239-243, sept. 2008. tab
Article in Es | IBECS | ID: ibc-67456

ABSTRACT

Introducción. La aciduria glutárica tipo I (AG-I) es un desorden metabólico de herencia autosómica recesiva y carácter progresivo debido al déficit de la enzima glutaril-CoA-deshidrogenasa (GCDH). El diagnóstico se realiza generalmente por una elevación del ácido glutárico y 3-hidroxiglutárico en la orina y de la glutarilcarnitina en el plasma. Existen casos falsos negativos en relación con la baja tasa excretora del ácido glutárico. Objetivo. Resaltar la importancia de la ampliación del cribado neonatal por espectrofotometría de masas en tándem (MS/MS) mediante la inclusión de la medición de glutarilcarnitina en la orina para su diagnóstico. Material y métodos. Se aportan los datos clínicos y el perfil bioquímico que llevaron al diagnóstico en 5 pacientes diagnosticados de AG-I en nuestro centro. Se analiza la evolución clínica y de neuroimagen en función de la edad, el diagnóstico y el inicio del tratamiento. Resultados. Dos casos de diagnóstico por cribado convencional mediante MS/MS siguieron un tratamiento precoz y están asintomáticos 6 años después. Dos pacientes de diagnóstico y tratamiento tardíos presentan secuelas neurológicas. El último paciente, diagnosticado a los 8 meses tras una presentación aguda encefalopática, mostraba valores de glutarilcarnitina en plasma en rango normal, mientras que el análisis retrospectivo de la orina del período neonatal reveló valores elevados de glutarilcarnitina. Conclusiones. El tratamiento temprano parece asociarse a una evolución neurológica favorable en pacientes con AG-I, por lo que su identificación precoz constituye un reto diagnóstico. La excreción urinaria de glutarilcarnitina es un marcador específico de AG-I y permite la identificación de pacientes sin aciduria glutárica y valores normales de glutarilcarnitina en sangre


Introduction. Glutaric Acidaemia type I (GA-I) is an autosomal recessive progressive neurodegenerative inborn error of metabolism caused by deficient activity of the enzyme glutaryl-CoA dehydrogenase (GCDH). In most cases, the diagnosis is established biochemically by the detection of glutaric acid and 3-hydroxy glutaric acid in urine and glutarylcarnitine in plasma. Patients excreting small amounts of glutaric acid may be overlooked. Objective. To investigate the value of expanded newborn screening by adding the measurement of urine glutarylcarnitine to conventional chromatography-mass spectrometry (GC-MS) in the diagnosis of GA-1. Material and methods. We report clinical and biochemical data in 5 GA-I patients diagnosed in our Hospital. Details regarding biochemical diagnosis are emphasised and the absence or presence of symptoms was correlated with neuroimaging findings, age at diagnosis and treatment. Results. Two patients showed high glutarylcarnitine levels in plasma and were identified by routine newborn GC-MS screening. Following early appropriate treatment they are asymptomatic 6 years later. Two patients with delayed diagnosis displayed neurological sequels in spite of treatment. The remaining patient, who presented with encephalopathic episode at age 8 months showed normal glutarylcarnitine levels in routine plasma GC-MS but high urine glutarylcarnitine levels in a retrospectively screened urine sample from the newborn period. Conclusions. Early treatment seems to positively influence the clinical evolution of GA-I patients. Thus, improving the identification of GA-I represents an important diagnostic challenge. The urinary excretion of glutarylcarnitine is a specific biochemical marker of GA-I and allows the identification of patients without glutaric aciduria and with normal plasma acylcarnitine profiles


Subject(s)
Humans , Male , Female , Infant , Child , Adolescent , Metabolic Diseases/diagnosis , Metabolic Diseases/therapy , Early Diagnosis , Glutamic Acid/metabolism , Mass Screening , Prognosis
19.
Article in English | MEDLINE | ID: mdl-19163491

ABSTRACT

Surface electroenterogram (EEnG) is a non-invasive method for monitoring the intestinal motility. However, surface EEnG signals are contaminated by strong physiological interferences. The main interferences which affect high-frequency components of surface EEnG are cardiac activity and movement artifacts. The aim of this work is to quantify the effectiveness of a combined method based on empirical mode decomposition and independent component analysis to remove these interferences from multichannel surface EEnG. In order to do so, several parameters were calculated from five recording sessions: Signal-to-ECG interference ratio (S/I) and variation of energy over 2 Hz (EF2). The results show that the S/I of processed signals was significantly higher than that of original signals, moreover the improvement of the S/I ratio is due to the attenuation of energy associated to interference. The proposed method also allows cancelling movement artifacts from surface EEnG, reducing considerably the non-physiological variation of EF2. Furthermore after the application of the combined method, correlation coefficient between EF2 of internal recording with EF2 of surface recording is greatly higher. Therefore, the proposed method could be helpful to reduce high-frequency interferences in EEnG recording and to provide more robust non-invasive intestinal motility indicators.


Subject(s)
Electrodiagnosis/instrumentation , Signal Processing, Computer-Assisted , Algorithms , Artifacts , Computers , Data Interpretation, Statistical , Electromyography/methods , Electronic Data Processing , Gastrointestinal Motility , Humans , Intestines/physiology , Software , Subtraction Technique , Time Factors
20.
Article in English | MEDLINE | ID: mdl-18002336

ABSTRACT

Surface electroenterogram (EEnG) is a non-invasive method for monitoring the intestinal motility. However, surface EEnG recordings are contaminated by movement artifact, cardiac activity, respiratory artifact and other interferences. The aim of this work is to remove movement artifacts by means of a combined method of empirical mode decomposition (EMD) and independent component analysis (ICA). Four recording sessions were conducted on canine model. Surface signals from 4 different channels are decomposed using EMD. Resulting intrinsic mode functions are the inputs of ICA analysis which permits to separate and identify the activities of different origin. Signal components associated to movement artifacts are removed and the original signals are reconstructed by means of an inverse procedure. The results show that the proposed method allows extracting and cancelling movement artifacts from surface EEnG, avoiding the presence of irregular peaks in external intestinal motility indexes. Therefore, the proposed method could be useful to reduce artifacts in EEnG recording and to provide more robust non-invasive intestinal motility indicators.


Subject(s)
Electrodiagnosis/instrumentation , Gastrointestinal Motility , Signal Processing, Computer-Assisted , Algorithms , Artifacts , Diagnosis, Computer-Assisted , Electronics, Medical , Equipment Design , Humans , Intestines/physiology , Models, Biological , Models, Statistical , Movement , Reproducibility of Results , Time Factors
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