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1.
Rev. esp. patol. torac ; 28(2,supl.1): 4-14, mar. 2016. ilus, graf
Article in Spanish | IBECS | ID: ibc-155162

ABSTRACT

La ecografía es una prueba diagnóstica de imagen, basada en los efectos de los ultrasonidos en el organismo y, actualmente, constituye una herramienta básica en prácticamente todas las especialidades de la medicina y cirugía. Sus numerosas ventajas y relativa sencillez de realización han contribuido a su uso generalizado y cada vez más frecuente en la práctica clínica diaria. La ecografía es un método de imagen muy dependiente del operador y su aprendizaje requiere, al menos de forma básica, del conocimiento de las bases físicas, la aparatología y las múltiples prestaciones que pueden ofrecer los ecógrafos. En el presente capítulo de esta monografía se describen, de forma general, los fundamentos físicos de la ecografía, el equipamiento neesario para su realización y algunos otros aspectos básicos para la iniciación en la técnica


No disponible


Subject(s)
Humans , Male , Female , Pulmonary Medicine/methods , Ultrasonography/instrumentation , Ultrasonography/methods , Ultrasonography , Diagnostic Imaging/methods , Biopsy , Image-Guided Biopsy/instrumentation , Image-Guided Biopsy/methods , Image-Guided Biopsy , Image Processing, Computer-Assisted/methods , Bronchoscopy/instrumentation , Bronchoscopy/methods , Bronchoscopy , Echocardiography/instrumentation , Echocardiography/methods , Echocardiography
2.
Euro Surveill ; 19(27): 14-20, 2014 Jul 10.
Article in English | MEDLINE | ID: mdl-25033052

ABSTRACT

The Y155H amino acid substitution in the neuraminidase gene (NA) has previously been associated with highly reduced inhibition by neuraminidase inhibitors in the seasonal H1N1 influenza A virus which circulated in humans before the 2009 pandemic. During the 2012/13 epidemic season in Spain, two A(H1N1) pdm09 viruses bearing the specific Y155H substitution in the NA were detected and isolated from two patients diagnosed with severe respiratory syndrome and pneumonia requiring admission to the intensive care unit. Contrary to what was observed in the seasonal A(H1N1) viruses, neither of the Y155H A(H1N1) pdm09 viruses described here showed a phenotype of reduced inhibition by NAIs as determined by the neuraminidase enzyme inhibition assay (MUNANA). High-throughput sequencing of the NA of both Y155H viruses showed that they were composed to >99% of H155 variants. We believe that this report can contribute to a better understanding of the biological significance of amino acid substitutions in the neuraminidase protein with regard to susceptibility of influenza viruses to neuraminidase inhibitors. This is of critical importance for optimal management of influenza disease patients.


Subject(s)
Amino Acid Substitution/genetics , Antiviral Agents/pharmacology , Enzyme Inhibitors/pharmacology , Influenza A Virus, H1N1 Subtype/drug effects , Influenza A Virus, H1N1 Subtype/genetics , Influenza, Human/drug therapy , Neuraminidase/genetics , Antiviral Agents/therapeutic use , Drug Resistance, Viral/genetics , Enzyme Inhibitors/therapeutic use , Female , Humans , Immunoenzyme Techniques , Influenza A Virus, H1N1 Subtype/classification , Influenza A Virus, H1N1 Subtype/isolation & purification , Influenza, Human/epidemiology , Influenza, Human/virology , Male , Microbial Sensitivity Tests , Oseltamivir/pharmacology , Oseltamivir/therapeutic use , Pandemics , Phenotype , RNA, Viral/genetics , Seasons , Sequence Analysis, DNA , Spain/epidemiology , Viral Proteins , Zanamivir/pharmacology , Zanamivir/therapeutic use
3.
Article in Spanish | IBECS | ID: ibc-100230

ABSTRACT

La enfermedad de Madelung o lipomatosis simétrica múltiple es una enfermedad rara caracterizada por la presencia de masas de tejido adiposo, distribuidas de forma simétrica en cuello, nuca, tronco, hombros y parte proximal de los miembros. Afecta fundamentalmente a hombres entre los 30 y 60 años con historia de etilismo crónico, siendo la resección quirúrgica el único tratamiento efectivo (AU)


Madelung's disease or Benign Symmetric Lipomatosis is a rare disease characterised by masses of adipose tissue spread symmetrically along the neck, trunk, shoulders and upper arms. It affects men from 30 to 60 years old with a previous history of alcoholism. Surgery is the only effective treatment (AU)


Subject(s)
Humans , Male , Middle Aged , Lipomatosis, Multiple Symmetrical/diagnosis , Lipomatosis, Multiple Symmetrical/surgery , Alcoholic Intoxication/complications , Alcoholic Intoxication/diagnosis , Ambulatory Surgical Procedures/methods , Anesthesia, Local/methods , Lipomatosis, Multiple Symmetrical/physiopathology , Spondylarthritis/complications , Adipose Tissue/pathology , Adipose Tissue/surgery , Diagnosis, Differential
4.
Semergen ; 38(4): 211-3, 2012.
Article in Spanish | MEDLINE | ID: mdl-23544721

ABSTRACT

Madelung's disease or Benign Symmetric Lipomatosis is a rare disease characterised by masses of adipose tissue spread symmetrically along the neck, trunk, shoulders and upper arms. It affects men from 30 to 60 years old with a previous history of alcoholism. Surgery is the only effective treatment.


Subject(s)
Lipomatosis, Multiple Symmetrical/diagnosis , Humans , Male , Middle Aged
5.
Rehabilitación (Madr., Ed. impr.) ; 45(2): 93-98, abr.-jun.2011.
Article in Spanish | IBECS | ID: ibc-129045

ABSTRACT

El objetivo del estudio es determinar la fiabilidad de la medición digital del ángulo de Cobb, en la escoliosis idiopática (EI), con un programa de ordenador (MD) y compararla con la medición tradicional (MT). Para ello se realiza un estudio de concordancia con 4 examinadores que miden 33 curvas de EI cuyas vértebras límites se han determinado previamente. Se realiza una MT y una MO mediante el programa digital Raim-JAVA y se repiten una semana después. Se determina que la fiabilidad intraobservador e interobservador en la MT y la MD es similar, sin diferencias significativas. Los errores de medición son inferiores en la MT que en la MD (7% vs. 8%), sin diferencias estadísticas(AU)


The aim of this study has been to determine the reliability of the digital measurement of the Cobb angle in idiopathic scoliosis (EI) with a computer program (MD) compared with the traditional measurement (MT). To do so, a concordance study was performed by 4 examiners who measured 33 E1 curves whose limits had been predetermined. An MT and MD were performed using the Raim-JAVA digital program, and the measures were repeated one week later. We found that the intra- and interobserver reliability in both procedures were similar, without significant differences. Measurement errors were lower in the MT than in the MD (7% vs 8%), without statistical differences(AU)


Subject(s)
Humans , Male , Female , 35150 , Scoliosis/diagnosis , Scoliosis/rehabilitation , Rehabilitation/methods , Signal Processing, Computer-Assisted/instrumentation , Treatment Outcome , Electronic Data Processing/methods , Electronic Data Processing
6.
Pediatr Infect Dis J ; 30(9): 792-4, 2011 Sep.
Article in English | MEDLINE | ID: mdl-21343837

ABSTRACT

We designed a prospective study to describe the clinical impact of the parainfluenza viruse (PIV) types detected in hospitalized children with respiratory tract infections from September 2008 to August 2010 in Spain. PIV infections were a significant proportion of viral respiratory detections (11.8% of cases). PIV types 3 and 4 were most commonly detected. There were clinical differences between PIV and respiratory syncytial virus infections.


Subject(s)
Paramyxoviridae Infections/virology , Paramyxovirinae/classification , Adolescent , Child , Child, Preschool , Female , Hospitalization , Humans , Infant , Infant, Newborn , Male , Paramyxoviridae Infections/diagnosis , Paramyxovirinae/genetics , Paramyxovirinae/isolation & purification , Prospective Studies , Respiratory Syncytial Virus Infections/diagnosis , Respiratory Syncytial Virus Infections/virology , Respiratory Syncytial Viruses/physiology , Respiratory Tract Infections/virology , Spain
7.
Rehabilitación (Madr., Ed. impr.) ; 44(2): 110-115, abr.-jun. 2010. tab
Article in Spanish | IBECS | ID: ibc-79137

ABSTRACT

Introducción: El análisis de la eficiencia del tratamiento rehabilitador del accidente vascular cerebral tiene especial importancia por tratarse de una patología invalidante que requiere tratamientos prolongados y cuyo resultado depende no sólo de las características propias de la lesión sufrida, sino también de la estructura disponible, que condiciona el tipo e intensidad del tratamiento de rehabilitación. Objetivo: Se analiza el resultado y la eficiencia del tratamiento rehabilitador del hemipléjico agudo en régimen hospitalario durante los períodos 2002–2007 (P02-07) y 1994–2001 (P94-01). Pacientes y método: Se realiza el estudio de una cohorte de casos consecutivos de pacientes que sufrieron un accidente vascular cerebral entre el 1-01-2002 y el 31-12-2007 e ingresaron en el servicio de rehabilitación para tratamiento. Se mide la situación funcional por medio del Functional Independence Measure (FIM) al ingreso y al alta. La eficiencia fue considerada como el cociente entre ganancia y estancia. Se construye el patrón de resultados y la matriz de eficiencia de Stineman. Se compara la eficiencia, el patrón de resultados y la matriz de eficiencia de este período (2002–2007) con el de 1994 a 2001. Resultados Los pacientes del P02-07 (129 pacientes) son de menor edad que los del P94-01 (247 pacientes) (63,5 vs. 69,1; intervalo de confianza [IC] 95%: 3,2–8,1), tienen un FIM al alta similar (76,9 y 76,8), las ganancias (27,3 vs. 33,7; IC95%: 2,1–10,5) y las estancias (29,3 vs. 36,7; IC95%: 0,7–13) son inferiores, y la eficiencia es similar (1,5 y 1,4) en ambos períodos. No hay diferencias entre los patrones de resultados, aunque el percentil 75 es inferior en el P02-07 (96 vs. 103). Las matrices de eficiencia se diferencian en el grupo v (baja eficiencia), que disminuye en el P02-07 (el 19,5% vs. el 30,4%; p=0,03). Conclusiones: Se confirma la tendencia a la disminución de la estancia y la ganancia en el FIM, manteniendo la eficiencia. El grupo de baja eficiencia mejora pero, en los resultados, el percentil 75 del FIM al alta tiene valores más bajos (AU)


Introduction: The analysis of the efficiency of a stroke rehabilitation program has special importance. It requires prolonged treatments and the results depend on the kind of injury and the type and intensity of the rehabilitation treatment. Objective Analyze the results and the efficiency of the cerebral vascular rehabilitation program in patients during these periods 2002–2007 (P02-07) and 1994–2001 (P94-01). Patients and method Is a study with a group of patients who suffered a cerebral vascular accident between the 01-01-2002 and the 31-12-2007 and they had admitted in the Physical Medicine and Rehabilitation service for a treatment. We used the Functional Independence Measure (FIM) before and after the rehabilitation program. The efficiency was considered like the quotient between gain and stay. It is constructed the pattern of results and the matrix of efficiency of Stineman. We compared the efficiency, the pattern of results and the matrix of efficiency of this period (2002–2007) with the one from 1994 to 2001. Results: The patients of the P02-07 (129 patients) have a smaller age than those of the P94-01 (247 patients) (63,5 versus 69.1; IC95% 3,2 to 8,1), they have a similar FIM (76,9 and 76.8), but the gain (27,3 versus 33.7; IC95% 2,1 to 10,5) and the stay (29,3 versus 36.7; IC95% 0,7 to 13) are inferiors, and the efficiency is similar (1,5 and 1.4) in both periods. There are no differences between the patterns of results, although the percentile 75 is inferior in the P02-07 (96 versus 103). The matrix of efficiency are different in the group V (low efficiency) that falls in P02-07 (19, 5% versus 30, 4%; p=0.03). Conclusions: There is a reduction in the stay and the gain in the FIM, but the efficiency is similar. The group of low efficiency improves but, in the results, percentile 75 of the FIM at discharge has lower values (AU)


Subject(s)
Humans , Male , Female , Outcome and Process Assessment, Health Care/methods , Evaluation of Results of Therapeutic Interventions/trends , Outcome Assessment, Health Care/trends , Outcome Assessment, Health Care , Hemiplegia/diagnosis , Hemiplegia/therapy , Hemiplegia/rehabilitation , Cost Efficiency Analysis , Longitudinal Studies , Hemorrhage/complications , Hemorrhage/etiology , Hemorrhage/rehabilitation
8.
Radiología (Madr., Ed. impr.) ; 52(2): 167-170, mar.-abr. 2010. ilus
Article in Spanish | IBECS | ID: ibc-81133

ABSTRACT

El tumor carcinoide de origen renal es muy raro, por lo que sus hallazgos radiológicos están poco caracterizados.ResumenSe presenta el caso de un varón con una gran masa renal derecha asociada a un conglomerado adenopático retroperitoneal. El estudio anatomopatológico, así como el aumento del 5-OH indolacético en orina aportan el diagnóstico de tumor carcinoide renal primario. Se revisan los hallazgos epidemiológicos, clínicos y de imagen en ecografía, tomografía computarizada (TC) y resonancia magnética (RM) (AU)


Primary renal carcinoid tumors are very rare, so their characteristic imaging findings have not been well defined.AbstractWe describe the case of a man with a large right renal mass associated to a retroperitoneal lymph-node conglomerate. Increased urine concentrations of 5-hydroxy-indole-acetic acid and the histologic findings led to the diagnosis of primary renal carcinoid tumor. We review the epidemiology, clinical presentation, and findings at ultrasonography, computed tomography, and magnetic resonance image for primary renal carcinoid tumors (AU)


Subject(s)
Humans , Male , Adult , Carcinoid Tumor/diagnosis , Kidney Neoplasms/diagnosis , Neuroendocrine Tumors/diagnosis , Tomography, Spiral Computed/methods , Indoleacetic Acids/analysis
9.
Radiologia ; 52(2): 167-70, 2010.
Article in Spanish | MEDLINE | ID: mdl-20170932

ABSTRACT

Primary renal carcinoid tumors are very rare, so their characteristic imaging findings have not been well defined. We describe the case of a man with a large right renal mass associated to a retroperitoneal lymph-node conglomerate. Increased urine concentrations of 5-hydroxy-indole-acetic acid and the histologic findings led to the diagnosis of primary renal carcinoid tumor. We review the epidemiology, clinical presentation, and findings at ultrasonography, computed tomography, and magnetic resonance image for primary renal carcinoid tumors.


Subject(s)
Carcinoid Tumor/diagnosis , Kidney Neoplasms/diagnosis , Adult , Carcinoid Tumor/diagnostic imaging , Humans , Kidney Neoplasms/diagnostic imaging , Male , Tomography, X-Ray Computed , Ultrasonography
10.
Rehabilitación (Madr., Ed. impr.) ; 43(6): 265-269, nov.-dic. 2009. ilus
Article in Spanish | IBECS | ID: ibc-73848

ABSTRACT

Objetivos. Evaluar la evidencia publicada sobreel diagnóstico, tratamiento y seguimiento de la escoliosisde inicio precoz (EIP).Estrategia de búsqueda. Se buscaron artículos originalesen las principales bases de datos: PubMed, EMBS, Cochrane,Fundación Kovach, utilizando los siguientes descriptores:onset scoliosis, infantile scoliosis, spinal deformity, earlychildhood scoliosis, respiratory function, cosmetic appearance,noncongenital scoliosis.Selección de estudios. Se valoró la relevancia de los artículosmediante la lectura del título y el resumen, y aquellosconsiderados relevantes fueron recuperados a texto completopara su posterior síntesis.Síntesis de resultados y conclusiones. La EIP es una de lasformas más severas de escoliosis que sin tratamiento puedellegar a curvas mayores de 100°. Estos pacientes tienen unamayor morbimortalidad secundaria a las alteraciones pulmonaresque se asocian a la progresión de la curva. La edadde inicio de la escoliosis es el factor más importante en eldesarrollo de alteraciones pulmonares(AU)


Objectives. To evaluate the evidence publishedon the diagnosis, treatment and evolution of the scoliosisof early onset (EOS).Search strategy. Original articles in the main data baseslooked for: PubMed, EMBS, Cochrane, Kovach Foundation,using the following descriptors: onset scoliosis, infantile scoliosis,spinal deformity, early childhood scoliosis, respiratoryfunction, cosmetic appearance, noncongenital scoliosis. Selection of studies. One valued the relevance of articlesby means of the reading of the title and the summary andthose considered relevants was recovered for their latersynthesis.Synthesis of results and conclusions. The EOS is one of themost severe forms of escoliosis than, without treatment, itcan arrive at curves majors from 100°. These patients havea greater secondary morbimortality to the pulmonary alterationsthat are associated to the progression of thecurve. The age of beginning of the escoliosis is the mostimportant factor in the development of pulmonary alterations


Subject(s)
Humans , Male , Female , Infant , Scoliosis/epidemiology , Early Diagnosis , Age of Onset
11.
Rehabilitación (Madr., Ed. impr.) ; 43(6): 270-274, nov.-dic. 2009. tab
Article in Spanish | IBECS | ID: ibc-73849

ABSTRACT

Objetivo. Para actualizar los conocimientos sobre la evaluación clínica de la escoliosis se ha realizado una búsqueda en las bases de datos Cochrane Controlled Trials Register, MEDLINE (2000 hasta marzo 2009) y en listas de referencias de los artículos. Síntesis de los resultados. Se debe realizar una correcta anamnesis y una exploración clínica completa que incluya un examen neurológico, una exploración cutánea y de la laxitud articular. Existen múltiples estudios de imagen; sin embargo, se debe solicitar, inicialmente, una radiografía convencional en bipedestación posteroanterior y lateral de la columna. La resonancia magnética (RM) sirve para descartar patologías de la médula espinal, ante signos o síntomas de alarma. A pesar de que existen diferentes clasificaciones en función de la edad de aparición, de la época de inicio o de la localización, hoy en día se aboga por utilizar varias clasificaciones y se reserva la de Lenke para las curvas potencialmente quirúrgicas (AU)


Objective. To update the knowledge on the clinical evaluation of the scoliosis has been realised a search in the data bases Cochrane Controlled Trials Register, MEDLINE (2000 until March 2009) and in lists of references of articles. Synthesis of results. It should do a correct anamnesis and a complete clinical examination that should include a complete neurological examination, a skin exploration and the articular laxity. Scoliosis idiopathic is a three-dimensional deformity of the spine, with an angle ≤ 10 in the frontal plane. It is the most common form of scoliosis and his etiology is unknown. It should do a correct anamnesis and a complete clinical examination that should include a complete neurological examination, a skin exploration and the articular laxity. There are several studies of image, however the first study is a conventional X-ray standing of the spine. MRI is used to exclude diseases of the spinal cord, when we met signs or symptoms of alarm. Multiple classifications are used depending on the age of onset, the start time or location. The Lenke classification is use for potentially surgical curves. The screening school is a non procedure obsolete in our country, due to low efficiency (AU)


Subject(s)
Humans , Male , Female , Adolescent , Adult , Scoliosis/diagnosis , Medical History Taking/methods , Scoliosis/classification , Severity of Illness Index
12.
Rehabilitación (Madr., Ed. impr.) ; 43(6): 312-317, nov.-dic. 2009. tab
Article in Spanish | IBECS | ID: ibc-73856

ABSTRACT

La enfermedad de Scheuermann es la causamás común de hipercifosis por acuñamiento vertebral en laadolescencia. Es una cifosis rígida dorsal o dorsolumbar, poralteraciones epifisarias de 3 vértebras centrales adyacentesacuñadas 5° o más. La etiología no es clara, habiendo factoresgenéticos y ambientales. La historia natural es controvertidaen cuanto a la severidad del dolor y la discapacidadfísica. Es difícil prever las curvas con mayor probabilidad deprogresión, en particular las cifosis entre 70° y 90°. El tratamientoortésico aporta una corrección modesta de la cifosisen determinados casos, pero las series publicadas sobretratamiento quirúrgico y conservador tienen un nivel deevidencia IV, lo que dificulta la realización de recomendaciones(AU)


The Scheuermann’s disease is the mostcommon cause of kyphosis by vertebral body wedging inthe adolescence. It is a thoracic or thoracolumbar spinalrigid kyphosis, by disorder of endplates of three consecutivemidthoracic vertebrae wedged 5° or more. The aetiologyis not clear, there are genetic and environmentalfactors. Natural history is controverted for the severityof the pain and the physical disability. It is difficult to anticipateto the curves with greater probability of progression,in particular for the kyphosis between 70° and 90°. The brace treatment contributes a modest correctionof the kyphosis in certain cases, but the series publishedon surgical and brace treatment have a level ofevidence IV, which makes difficult the to do recommendations(AU)


Subject(s)
Humans , Kyphosis/diagnosis , Scheuermann Disease/diagnosis , Spinal Curvatures/diagnosis , Orthopedic Procedures , Orthotic Devices
13.
Rehabilitación (Madr., Ed. impr.) ; 43(4): 151-159, jul.-ago. 2009. ilus, tab, graf
Article in Spanish | IBECS | ID: ibc-72988

ABSTRACT

Introducción. El traumatismo craneoencefálico (TCE) es causa importante de discapacidad en población con edad laboral y condiciona una situación de minusvalía que dificulta la reinserción sociolaboral. En España la incidencia con discapacidad grave en 2002 fue de 2/100.000 habitantes/año. Objetivo. Analizar la reincorporación laboral y la situación sociofamiliar de los TCE graves después de un año de evolución. Pacientes y métodos. Se realiza un estudio de pacientes con TCE grave (Glasgow inicial ≤ 8) y que realizaron tratamiento de rehabilitación, ingresados durante el período del 1 de enerode 2002 al 31 de diciembre de 2006. Se excluyen los fallecidos y los trasladados a otro hospital. Se valora la situación sociofamiliar por la Escala de Gijón y la reinserción laboral por entrevista telefónica, con un seguimiento mínimo de un año. Resultados. De los 215 TCE graves ingresados en la unidad de cuidados intensivos (UCI), se estudian 69 con una media de 42,6 (14-90) años de edad, predominio masculino (72 %) y Glasgow inicial de 5,46 (3-8). El accidente de tráfico es la causa más frecuente (63,7 %). Las lesiones asociadas más frecuentes son los politraumatismos (57,2 %). Tras el tratamiento la medida de independencia funcional (FIM) mejora 41 puntos (0-94). Se reincorpora al mundo laboral el 36,6 % y tiene un estado sociofamiliar normal el 50 %. Conclusión. La reinserción laboral se produce aproximadamente en un tercio de los pacientes, en cambio la integración sociofamiliar es buena en la mitad de ellos. Los pacientes experimentan una mejoría media de 41 puntos de FIM en la capacidad funcional durante el período de tratamiento (AU)


Introduction. Traumatic brain injury (TBI) is an important reason of disability in the working-age population and determines a situation of handicap that hinders social work reintegration. In Spain, the incidence of severe disabilityin 2002 was 2/100,000 inhabitants per year. Objective. To analyze the return to work and the social family situation of the severe TBI subject after a one-year evolution. Patients and methods. We carried out a study of patients admitted during the period from January 1, 2002, to December 31, 2006, with severe TBI (initial Glasgow ≤ 8) and with rehabilitation treatment. Patients with exitus and those transferred to another hospital were excluded. The social and family situation was assessed using the Gijón Scale and returnto work by telephone interview, with a minimum follow-up of one year. Results. A total of 69 severe TBI out of the 215 admitted to the intensive care unit (ICU), age 42.6 (14-90) years, malepredominance (72 %) and initial Glasgow 5.46 (3-8) werestudied. Traffic accident was the most frequent cause (63.7 %). The polytrauma was the most frequent injury associated (57.2 %). After treatment, the functional independence measure (FIM) improved 41 points (0-94), 36.6 % returning to the work world and 50 % obtaining a normal social-family status. Conclusion. Re-entry into the work word occurs in approximately one third of the patients while social-integrationis good in half of them. The patients experienced a mean improvementof 41 points on the FIM in functional capacity during the treatment period (AU)


Subject(s)
Humans , Male , Female , Adolescent , Adult , Middle Aged , Aged , Aged, 80 and over , Head Injuries, Penetrating/rehabilitation , Accidents, Occupational/psychology , Rehabilitation/methods , Head Injuries, Penetrating/psychology , Disabled Persons/psychology , Disabled Persons/rehabilitation , Disabled Children/psychology , Disabled Children/rehabilitation , Retrospective Studies , Cross-Sectional Studies , Glasgow Outcome Scale , Socioeconomic Factors , Analysis of Variance
14.
Rehabilitación (Madr., Ed. impr.) ; 43(1): 37-39, ene. 2009.
Article in Es | IBECS | ID: ibc-71782

ABSTRACT

La enfermedad de Emery-Dreifuss (EMD) es una distrofia neuromuscular ligada al cromosoma X, causada por un defecto en el gen STA del Xq28 que codifica la proteína nuclear llamada emerina. Se presenta, normalmente, en la adolescencia y se caracteriza por debilidad escapuloperoneal y rigidez articular de codos, tobillos, columna cervical y lumbar. Asimismo, puede presentar afectación cardíaca. Se presentan dos hermanos, de 12 y 9 años, que llegaron al servicio de Rehabilitación aquejando debilidad escapuloperoneal y flexión irreductible de codos. Las pruebas complementarias muestran una elevación de la CPK y LDH en la analítica de sangre, y un patrón de afectación miopático en el electromiograma (EMG). Ambos pacientes presentan la misma enfermedad neuromuscular, la EMD


Emery-Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. This disease usually shows up during early adolescence and is characterized by scapulo-peroneal muscle weakness and wasting. The patients also display contractures of elbows, the tendo-Achilles and paraspinal muscles, which cause spine rigidity. Additionally, the patients can also present cardíac affectation. We present the case of two brothers, 12 and 9 years old. They arrived to the Rehabilitation Department with elbows in flexion and proximal weakness. The complementary tests show an increase in serum creatine kinase or LDH and EMG shows myophatic affectation. We conclude that both brothers present the same disease, the Emery-Dreifuss muscular dystrophy


Subject(s)
Humans , Male , Child , Muscular Dystrophy, Emery-Dreifuss/rehabilitation , Recovery of Function , Genetic Diseases, X-Linked/diagnosis , Electromyography , Exercise Therapy
16.
Rev Esp Med Nucl ; 25(3): 172-9, 2006.
Article in Spanish | MEDLINE | ID: mdl-16762271

ABSTRACT

AIMS: To analyze whether the gastric emptying profile could define obesity and to study the impact of macronutrients diet composition on gastric emptying in obese and non obese people. MATERIAL AND METHODS: 47 subjects were selected (12 non obese and 35 obese). The study was organized in 4 visits. In each visit the subject was given isocaloric breakfast differing in macronutrient composition, (either equilibrated, or lipid, protein or carbohydrate rich) quantitative gastric emptying assay was done realized, every 15 minutes for two hours using a radionuclide technique. The week prior to the visit, the subject followed a standard 1,800 cal/day diet. RESULT: A significant interaction between time and diet composition is shown regardless of the group (obese or non-obese) the subject belongs to. The different macronutrient composition differentially affected gastric emptying only in the obese group. Post hoc analysis of the results showed significant differences after 45 min post breakfast between protein and carbohydrate rich breakfast. CONCLUSIONS: Gastric emptying in obese but not in non obese subjects, was significantly modified depending on the intake qualitative composition. These differences are clear when protein rich (significantly slower emptying) is compared versus hydrocarbon enriched diet (significantly faster emptying). A significant difference in gastric emptying between obese and non-obese subjects cannot be established.


Subject(s)
Gastric Emptying , Gastrointestinal Contents , Obesity/physiopathology , Adult , Body Mass Index , Dietary Carbohydrates/administration & dosage , Dietary Carbohydrates/pharmacokinetics , Dietary Fats/administration & dosage , Dietary Fats/pharmacokinetics , Dietary Proteins/administration & dosage , Dietary Proteins/pharmacokinetics , Energy Intake , Female , Humans , Male , Middle Aged , Radiopharmaceuticals/pharmacokinetics , Technetium Tc 99m Sulfur Colloid/pharmacokinetics , Time Factors
17.
Rev. esp. med. nucl. (Ed. impr.) ; 25(3): 172-179, mayo 2006. tab, graf
Article in Es | IBECS | ID: ibc-048040

ABSTRACT

Objetivos. Analizar si el perfil de vaciamiento gástrico podría ser característico en obesidad y estudiar el impacto que la relación de macronutrientes en la dieta tiene sobre el vaciamiento gástrico y las diferencias entre obesos y normopesos. Material y método. Se seleccionan 47 sujetos (12 normopeso y 35 obesos), que realizan 4 visitas durante el estudio. En cada una se administraba un desayuno isocalórico con distinta composición de macronutrientes (equilibrados, lipídico, proteico o hidrocarbonato). Se realizaron estudios cuantitativos de vaciamiento gástrico cada 15 minutos durante dos horas usando la técnica de gammagrafía. La semana previa a cada visita todos los sujetos realizaron una dieta estándar de 1.800 cal/día. Resultados. Se observa una interacción significativa entre los factores tiempo y dieta. Sin embargo, el mismo análisis no demostró esta tendencia al estudiar la evolución del vaciamiento en relación con el grupo al que pertenecía el sujeto (normopeso u obeso). La composición cualitativa de la dieta sólo influyó sobre el vaciamiento gástrico en obesos. El estudio post hoc demostró diferencias significativas fundamentalmente a partir de los 45 minutos postingesta, y entre ingestas ricas en hidratos de carbono y proteínas. Conclusiones. La composición cualitativa de la ingesta ha influido de forma significativa sobre la velocidad de vaciamiento gástrico en sujetos obesos, pero no en normopesos. Esta influencia se hace más evidente en la dieta hidrocarbonada (vaciamiento significativamente más rápido) y proteica (vaciamiento significativamente más lento). No puede establecerse una diferencia significativa de la velocidad de vaciamiento gástrico entre sujetos obesos o normopeso


Aims. To analyze whether the gastric emptying profile could define obesity and to study the impact of macronutrients diet composition on gastric emptying in obese and non obese people. Material and methods. 47 subjects were selected (12 non obese and 35 obese). The study was organized in 4 visits. In each visit the subject was given isocaloric breakfast differing in macronutrient composition, (either equilibrated, or lipid, protein or carbohydrate rich) quantitative gastric emptying assay was done realized, every 15 minutes for two hours using a radionuclide technique. The week prior to the visit, the subject followed a standard 1,800 cal/day diet. Result. A significant interaction between time and diet composition is shown regardless of the group (obese or non obese) the subject belongs to. The different macronutrient composition differentialy affected gastric emptying only in the obese group. Post hoc analysis of the results showed significant differences after 45 min post breakfast between protein and carbohydrate rich breakfast. Conclusions. Gastric emptying in obese but not in non obese subjects, was significantly modified depending on the intake qualitative composition. These differences are clear when protein rich (significantly slower emtying) is compared versus hydrocarbon enriched diet (significantly faster emptying). A significant difference in gastric emptying between obese and non obese subjects cannot be stablished


Subject(s)
Adult , Middle Aged , Humans , Gastric Emptying , Gastrointestinal Contents , Obesity/physiopathology , Dietary Carbohydrates/administration & dosage , Dietary Carbohydrates/pharmacokinetics , Dietary Fats/administration & dosage , Dietary Fats/pharmacokinetics , Dietary Proteins/administration & dosage , Dietary Proteins/pharmacokinetics , Radiopharmaceuticals , Radiopharmaceuticals/pharmacokinetics , Time Factors , Technetium Tc 99m Sulfur Colloid , Technetium Tc 99m Sulfur Colloid/pharmacokinetics , Body Mass Index
18.
An Med Interna ; 22(2): 85-7, 2005 Feb.
Article in Spanish | MEDLINE | ID: mdl-15898887

ABSTRACT

Still, very little is known about the precise pathogenetic mechanisms, the triggering events and in particular, the evolution and treatment of nonalcoholic steatohepatitis (NASH). It is part of the broad spectrum of nonalcoholic fatty liver diseases (NAFLDs). Mainly, it has been reported as a benign disease, associated with metabolic disorders commonly occurrence en the general population. Nevertheless, the syndrome can lead to cirrhosis, liver failure or hepatocellular carcinoma, requiring liver transplantation. We present one patient with diagnosis of NASH, who was treated initially for overweight, HTA and hyperlipaemia with incompleted response and who showed a quickly progress to cirrhosis but no cause of liver decompensated disease could be identified. Currently she is at end-stage waiting a liver transplantation. Controlled and multicentric studies with the same definition of NASH and the study end-points are needed, and will provide information about diagnosis features and novel therapies to early management of the disease.


Subject(s)
Fatty Liver/complications , Adult , Disease Progression , Fatty Liver/pathology , Female , Humans
19.
Rev Neurol ; 37(4): 371-5, 2003.
Article in Spanish | MEDLINE | ID: mdl-14533115

ABSTRACT

A survey is conducted of the way difficult-to-control epileptic seizures are currently managed in paediatric practice. We also highlight the alternative means of therapy available, such as epilepsy surgery, a ketogenic diet, the use of hormones, steroids, gamma globulin and the stimulation of the vagal nerve, together with their indications, their efficiency in the different types of epilepsy and their contraindications. Mention is also made of the new antiepileptic drugs that have appeared since the nineties, as well as the reappearance of others that had fallen into disuse.


Subject(s)
Epilepsy/therapy , Child , Humans
20.
Rev. neurol. (Ed. impr.) ; 37(4): 371-375, 16 ago., 2003.
Article in Es | IBECS | ID: ibc-27887

ABSTRACT

Se revisa la forma en que se manejan en la actualidad las crisis epilépticas de difícil control en pediatría, y se hace hincapié en las medidas alternativas de tratamiento, como son la cirugía de la epilepsia, la dieta cetogénica, el uso de hormonas, esteroides y gammaglobulina, y la estimulación del nervio vago, con sus indicaciones, su eficacia en los diferentes tipos de epilepsia y sus contraindicaciones. Se mencionan las indicaciones de los nuevos fármacos antiepilépticos que han aparecido a partir de los años noventa y la reaparición de otros que ya estaban en desuso (AU)


A survey is conducted of the way difficult-to-control epileptic seizures are currently managed in paediatric practice. We also highlight the alternative means of therapy available, such as epilepsy surgery, a ketogenic diet, the use of hormones, steroids, gamma globulin and the stimulation of the vagal nerve, together with their indications, their efficiency in the different types of epilepsy and their contraindications. Mention is also made of the new antiepileptic drugs that have appeared since the nineties, as well as the reappearance of others that had fallen into disuse (AU)


Subject(s)
Child , Humans , Epilepsy
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