Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 55
Filtrar
1.
Acta ortop. mex ; 37(5): 270-275, sep.-oct. 2023. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1573745

RESUMEN

Resumen: Introducción: los bifosfonatos se usan para el manejo de osteoporosis postmenopáusica con riesgo elevado de fractura, osteoporosis inducida por glucocorticoides, enfermedad de Paget e hipercalcemia; así como coadyuvante para manejo del hiperparatiroidismo. Los bifosfonatos se han asociado a efectos adversos previamente desconocidos dentro de los que se encuentran fracturas de fémur de trazo atípico. Objetivo: analizar la relación del antecedente de uso de bifosfonatos (BF) como factor de riesgo para presentar fracturas atípicas de fémur (FAF). Material y métodos: se incluyeron pacientes de 40 años o más de dos centros hospitalarios atendidos desde 2009 a 2018 por fractura de fémur. Se revisaron los estudios radiográficos de 441 registros, de los cuales se definió el sitio de fractura. Se analizaron las fracturas de fémur subtrocantéricas (FS) y diafisarias (FD) aplicando los criterios del segundo reporte de la American Society for Bone and Mineral Research para la definición de caso de FAF. Finalmente, se indagó el consumo de bifosfonatos en estos grupos para para estimar una medida de asociación. Resultados: de los 441 registros clínicos, 98 (22.2%) fueron del sexo masculino y 343 (77.7%) del femenino, con edad promedio de 77.8 (40-103) años. Se identificaron 59 FS/FD, de las cuales 53% (31 registros) fueron catalogadas FAF. El consumo de BF se determinó en 80.6% de pacientes con FAF y en 3.57% con FS/FD. El uso de BF se asoció significativamente con la presencia de FAF (OR: 112, p ≤ 0.000, IC 95%: 12.6-1001). Conclusiones: el uso de BF aumenta significativamente el riesgo de presentar FAF. Las FAF en pacientes que usaron BF se presentó tras un consumo mínimo de 24 meses.


Abstract: Introduction: bisphosphonates are used for the management of postmenopausal osteoporosis with high risk of fracture, glucocorticoid-induced osteoporosis, Paget's disease and hypercalcemia; as well as an adjuvant for the management of hyperparathyroidism. Bisphosphonates have been associated with previously unknown adverse effects, including atypical femur fractures. Objective: to analyze the relationship of the history of bisphosphonate (BF) use as a risk factor for presenting atypical femur fractures (AFF). Material and methods: patients aged 40 years or older from two hospital centers seen from 2009 to 2018 for femur fracture were included. The radiographic studies of 441 records were reviewed, from which the fracture site was defined. Subtrochanteric (SF) and diaphyseal (DF) femur fractures were analyzed applying the criteria of the second report of the American Society for Bone and Mineral Research for case definition of AFF. Finally, the consumption of bisphosphonates in these groups was investigated to estimate a measure of association. Results: of the 441 clinical records, 98 (22.2%) were male and 343 (77.7%) were female with a mean age of 77.8 (40-103) years. Fifty-nine FS/FD were identified, of which 53% (31 records) were categorized as AFF. BF use was determined in 80.6% of patients with AFF and 3.57% in FS/FD. BF use was significantly associated with the presence of AFF (OR: 112, p ≤ 0.000, CI 95%: 12.6-1001). Conclusions: BF use significantly increases the risk of presenting AFF. AFF in patients who used BF occurred after a minimum consumption of 24 months.

2.
Acta Ortop Mex ; 37(5): 270-275, 2023.
Artículo en Español | MEDLINE | ID: mdl-38382451

RESUMEN

INTRODUCTION: bisphosphonates are used for the management of postmenopausal osteoporosis with high risk of fracture, glucocorticoid-induced osteoporosis, Paget's disease and hypercalcemia; as well as an adjuvant for the management of hyperparathyroidism. Bisphosphonates have been associated with previously unknown adverse effects, including atypical femur fractures. OBJECTIVE: to analyze the relationship of the history of bisphosphonate (BF) use as a risk factor for presenting atypical femur fractures (AFF). MATERIAL AND METHODS: patients aged 40 years or older from two hospital centers seen from 2009 to 2018 for femur fracture were included. The radiographic studies of 441 records were reviewed, from which the fracture site was defined. Subtrochanteric (SF) and diaphyseal (DF) femur fractures were analyzed applying the criteria of the second report of the American Society for Bone and Mineral Research for case definition of AFF. Finally, the consumption of bisphosphonates in these groups was investigated to estimate a measure of association. RESULTS: of the 441 clinical records, 98 (22.2%) were male and 343 (77.7%) were female with a mean age of 77.8 (40-103) years. Fifty-nine FS/FD were identified, of which 53% (31 records) were categorized as AFF. BF use was determined in 80.6% of patients with AFF and 3.57% in FS/FD. BF use was significantly associated with the presence of AFF (OR: 112, p 0.000, CI 95%: 12.6-1001). CONCLUSIONS: BF use significantly increases the risk of presenting AFF. AFF in patients who used BF occurred after a minimum consumption of 24 months.


INTRODUCCIÓN: los bifosfonatos se usan para el manejo de osteoporosis postmenopáusica con riesgo elevado de fractura, osteoporosis inducida por glucocorticoides, enfermedad de Paget e hipercalcemia; así como coadyuvante para manejo del hiperparatiroidismo. Los bifosfonatos se han asociado a efectos adversos previamente desconocidos dentro de los que se encuentran fracturas de fémur de trazo atípico. OBJETIVO: analizar la relación del antecedente de uso de bifosfonatos (BF) como factor de riesgo para presentar fracturas atípicas de fémur (FAF). MATERIAL Y MÉTODOS: se incluyeron pacientes de 40 años o más de dos centros hospitalarios atendidos desde 2009 a 2018 por fractura de fémur. Se revisaron los estudios radiográficos de 441 registros, de los cuales se definió el sitio de fractura. Se analizaron las fracturas de fémur subtrocantéricas (FS) y diafisarias (FD) aplicando los criterios del segundo reporte de la American Society for Bone and Mineral Research para la definición de caso de FAF. Finalmente, se indagó el consumo de bifosfonatos en estos grupos para para estimar una medida de asociación. RESULTADOS: de los 441 registros clínicos, 98 (22.2%) fueron del sexo masculino y 343 (77.7%) del femenino, con edad promedio de 77.8 (40-103) años. Se identificaron 59 FS/FD, de las cuales 53% (31 registros) fueron catalogadas FAF. El consumo de BF se determinó en 80.6% de pacientes con FAF y en 3.57% con FS/FD. El uso de BF se asoció significativamente con la presencia de FAF (OR: 112, p 0.000, IC 95%: 12.6-1001). CONCLUSIONES: el uso de BF aumenta significativamente el riesgo de presentar FAF. Las FAF en pacientes que usaron BF se presentó tras un consumo mínimo de 24 meses.


Asunto(s)
Fracturas del Fémur , Osteoporosis , Humanos , Masculino , Femenino , Anciano , Difosfonatos/efectos adversos , Fracturas del Fémur/inducido químicamente , Fracturas del Fémur/diagnóstico por imagen , Factores de Riesgo , Diáfisis , Estudios Retrospectivos
3.
Int J Psychiatry Clin Pract ; 26(4): 387-394, 2022 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-35471923

RESUMEN

BACKGROUND: Hyperprolactinaemia (HyperPRL) induced by psychotropic drugs is a high-prevalence consequence which has repercussions in psychical and mental health in the psychiatric population, so this research had the objective to expand which sociodemographic and clinical features are associated with prolactin (PRL) elevation in patients treated with antidepressant and/or antipsychotic drugs. METHODS: An observational, cross-sectional, comparative and retrolective study was conducted on 300 patients who received clinical attention in a third level of psychiatric care unit in Mexico during 2017. These patients have been reported to show PRL levels greater than 25 ng/mL among women and greater than 20 ng/mL among men. In the same way, sociodemographic and clinical variables were collected, as well as psychiatric diagnosis and type of psychopharmacological treatment used by the patients. RESULTS: HyperPRL was more frequent in women (80.7%) than men (19.3%). The mean levels of PRL were 68.94 ± 62.28 ng/mL with higher levels in women (71.9 ± 67.3, p=.02). Regarding the treatment, 78.3%, 71.3% and 49.7% consumed antipsychotics, antidepressants, and both drugs, respectively. The relationship between hyperPRL (>100 n/mL) and typical antipsychotics was dose-dependent (33.23 ± 13.24 mg, p=.01). In the multivariate regression models according to the type of treatment, as well as the demographic and clinical features, hyperPRL was associated independently with the use of antipsychotic treatment, pituitary adenoma and hypertension (R2=0.05). CONCLUSIONS: HyperPRL is a complex clinical syndrome frequent in the psychiatric population with detrimental long-term consequences, as well as its relationship with the use of psychotropic drugs as in the case of antipsychotics. Effective actions should be implemented in the prevention, approach and treatment of this condition paying special attention to the accompanying medical comorbidities.


Asunto(s)
Antipsicóticos , Hiperprolactinemia , Masculino , Humanos , Femenino , Hiperprolactinemia/inducido químicamente , Hiperprolactinemia/epidemiología , Antipsicóticos/efectos adversos , Estudios Transversales , Prolactina , Psicotrópicos/uso terapéutico
4.
Rev. chil. ter. ocup ; 21(2): 13-24, dic. 2021.
Artículo en Español | LILACS | ID: biblio-1398620

RESUMEN

La población de Personas Mayores, ha aumentado durante estos últimos años y se espera que siga así, llevándonos a indagar sobre la participación ocupacional de esta población en la Participación Social con compañeros/amigos y Actividades Básicas de la Vida Diaria, como la actividad sexual. Ambas ocupaciones se ligan a un solo fenómeno llamado sexualidad, considerado como fuente de bienestar global, de calidad de vida y un derecho. Frente a lo cual, surge como objetivo señalar el abordaje de la Terapia Ocupacional y sus profesionales en la sexualidad de Personas Mayores de acuerdo a la información empírica disponible, e identificar las teorías desde Terapia Ocupacional que guían el abordaje de la sexualidad como ocupación, desde una metodología argumentativa según las directrices que componen un ensayo. Se obtuvo que las investigaciones indican escasez del abordaje de la actividad sexual como ocupación y se encontró que el fenómeno de la actividad sexual y su problemática ocupacional, no cuenta con modelos e instrumentalización disciplinar.


La población de Personas Mayores, ha aumentado durante estos últimos años y se espera que siga así, llevándonos a indagar sobre la participación ocupacional de esta población en la Participación Social con compañeros/amigos y Actividades Básicas de la Vida Diaria, como la actividad sexual. Ambas ocupaciones se ligan a un solo fenómeno llamado sexualidad, considerado como fuente de bienestar global, de calidad de vida y un derecho. Frente a lo cual, surge como objetivo señalar el abordaje de la Terapia Ocupacional y sus profesionales en la sexualidad de Personas Mayores de acuerdo a la información empírica disponible, e identificar las teorías desde Terapia Ocupacional que guían el abordaje de la sexualidad como ocupación, desde una metodología argumentativa según las directrices que componen un ensayo. Se obtuvo que las investigaciones indican escasez del abordaje de la actividad sexual como ocupación y se encontró que el fenómeno de la actividad sexual y su problemática ocupacional, no cuenta con modelos e instrumentalización disciplinar.


Asunto(s)
Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Calidad de Vida , Conducta Sexual , Anciano , Terapia Ocupacional , Sexualidad
5.
Arch. argent. pediatr ; 116(2): 300-302, abr. 2018. ilus, tab
Artículo en Español | LILACS, BINACIS | ID: biblio-887473

RESUMEN

La porfiria eritropoyética congènita es una porfiria cutánea no aguda, extremadamente poco frecuente, autosómica recesiva, producida por la deficiencia de la enzima uroporfirinógeno III sintetasa codificada en el gen UROS, en el cromosoma 10q26.2. Esto genera el depósito y la acumulación de porfirinas en las córneas, los huesos y los dientes. Se presenta desde los primeros meses de vida con intensa fotosensibilidad, que se manifiesta con fragilidad cutánea con formación de vesículas, bulas y costras. El curso grave lleva a la mutilación de tejidos acrales, compromiso ocular, anemia hemolítica e hiperesplenismo. El manejo es complejo, basado, sobre todo, en la fotoprotección. Un correcto diagnóstico y enfrentamiento puede mejorar notablemente la calidad y expectativas de vida de estos pacientes. Se presenta el caso de un lactante con porfiria eritropoyética congénita confirmada con el estudio genético.


Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection. A correct diagnosis can significantly improve the quality and life expectancy of these patients. We present the case of a child with congenital erythropoietic porphyria confirmed by genetic analysis.


Asunto(s)
Humanos , Masculino , Lactante , Porfiria Eritropoyética/terapia , Guías de Práctica Clínica como Asunto
6.
Arch Argent Pediatr ; 116(2): e300-e302, 2018 Apr 01.
Artículo en Español | MEDLINE | ID: mdl-29557620

RESUMEN

Congenital erythropoietic porphyria is an extremely rare, autosomal recessive, non-acute cutaneous porphyria, caused by uroporphyrinogen III synthase deficiency, codificated by UROS gene on the chromosome 10q26.2. Porphyrins deposit in cornea, bones and teeth. The first symptoms could be manifested in early childhood, with skin fragility, vesicles and bullae. Severe course produces acral tissues mutilation, eye involvement, hemolytic anemia and hypersplenism. The treatment is complex and it is based in the photoprotection. A correct diagnosis can significantly improve the quality and life expectancy of these patients. We present the case of a child with congenital erythropoietic porphyria confirmed by genetic analysis.


La porfiria eritropoyética congènita es una porfiria cutánea no aguda, extremadamente poco frecuente, autosómica recesiva, producida por la deficiencia de la enzima uroporfirinógeno III sintetasa codificada en el gen UROS, en el cromosoma 10q26.2. Esto genera el depósito y la acumulación de porfirinas en las córneas, los huesos y los dientes. Se presenta desde los primeros meses de vida con intensa fotosensibilidad, que se manifiesta con fragilidad cutánea con formación de vesículas, bulas y costras. El curso grave lleva a la mutilación de tejidos acrales, compromiso ocular, anemia hemolítica e hiperesplenismo. El manejo es complejo, basado, sobre todo, en la fotoprotección. Un correcto diagnóstico y enfrentamiento puede mejorar notablemente la calidad y expectativas de vida de estos pacientes. Se presenta el caso de un lactante con porfiria eritropoyética congénita confirmada con el estudio genético.


Asunto(s)
Porfiria Eritropoyética/terapia , Humanos , Lactante , Masculino , Guías de Práctica Clínica como Asunto
7.
J Mech Behav Biomed Mater ; 56: 134-145, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26703228

RESUMEN

This paper presents an experimental study of the composition, microstructure and mechanical behavior of scales from the Megalops Atlanticus (Atlantic tarpon). The microstructure and composition were evaluated by Scanning Electron Microscopy (SEM) and RAMAN spectroscopy, respectively. The mechanical properties were evaluated in uniaxial tension as a function of position along the length of the fish (head, mid-length and tail). Results showed that the scales are composed of collagen and hydroxyapatite, and these constituents are distributed within three well-defined layers from the bottom to the top of the scale. The proportion of these layers with respect to the total scale thickness varies radially. The collagen fibers are arranged in plies with different orientations and with preferred orientation in the longitudinal direction of the fish. Results from the tensile tests showed that scales from Megalops Atlanticus exhibit variations in the elastic modulus as a function of body position. Additional testing performed with and without the highly mineralized top layers of the scale revealed that the mechanical behavior is anisotropic and that the highest strength was exhibited along the fish length. Furthermore, removing the top mineralized layers resulted in an increase in the tensile strength of the scale.


Asunto(s)
Estructuras Animales/química , Peces/anatomía & histología , Ensayo de Materiales , Fenómenos Mecánicos , Animales , Fenómenos Biomecánicos
8.
Ciudad Autónoma de Buenos Aires; Ministerio de Salud de la Nación; 2013. 1 p.
No convencional en Español | ARGMSAL, BINACIS | ID: biblio-1532561

RESUMEN

INTRODUCCIÓN En el marco de los programas de atención materno-infantil, se desarrollan intervenciones para prevenir el sobrepeso y la obesidad infantil. OBJETIVOS Proporcionar información útil para el desarrollo de acciones de prevención en cuatro provincias del Noroeste argentino, tomando en cuenta los conocimientos, actitudes y comportamientos de las madres en relación con el sobrepeso y la obesidad infantil. MÉTODOS Se utilizaron métodos cuali-cuantitativos de corte transversal. Se aplicaron 40 entrevistas abiertas y 1 107 cuestionarios a madres de niños de 0 a 5 años. Los resultados se analizaron desde la teoría de la acción razonada. RESULTADOS El 53% de los niños presentó un estado nutricional normal según estándares de la International Obesity Task Force y un porcentaje bajo de delgadez (6,8%). Sin embargo, los porcentajes de sobrepeso (22,6%) y obesidad (17,6%) fueron elevados. En modelos de regresión logística multivariada, las madres que creían que un niño gordito era un niño sano presentaron mayor probabilidad de tener un hijo obeso (OR=2,3; IC95% 1,3-3,9). Las madres que enseñaban a sus hijos las cualidades de los alimentos (OR=0,6; IC95%: 0,4-0,9) y las que comían alimentos saludables para dar el ejemplo (OR=0,7; IC95% 0,4-1,0) presentaron menor probabilidad de tener hijos obesos o con sobrepeso. Los resultados cualitativos permitieron identificar actitudes positivas o negativas con respecto a las comidas. DISCUSIÓN El conocimiento de las madres sobre la alimentación de sus hijos no siempre asegura prácticas adecuadas, ya que no es el único determinante frente a los comportamientos del cuidado de la salud alimentaria.


Asunto(s)
Niño , Obesidad
9.
Rev Med Chil ; 140(4): 503-6, 2012 Apr.
Artículo en Español | MEDLINE | ID: mdl-22854697

RESUMEN

BACKGROUND: Arterial gasometry is considered the gold standard for establishing a diagnosis of respiratory failure of any etiology. However, there are some circumstances in which it loses specificity, making necessary to consider other tests such as pulse oximetry to adequately determine hypoxemia. We report a 67 years old patient with sudden hypoacusia, right hemiparesis and polypnea. His laboratory exams on admission, showed extreme hypoxemia in several readings, without correlation to the patient's clinical condition nor the pulse oximetry, and a leukocytosis of 800.000 cells x ml, with many immature cells. Chronic myeloid leukemia was diagnosed and treatment with hydroxyurea was initiated, achieving normalization in the arterial gases in accordance with the fall of the white cell count. Interpretation of laboratory findings according to the general clinical context of the patient allowed to suspect a spurious hypoxemia, saving the patient from unnecessary and risky interventions.


Asunto(s)
Hipoxia/etiología , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Leucocitosis/complicaciones , Anciano , Análisis de los Gases de la Sangre , Humanos , Hipoxia/sangre , Leucemia Mielógena Crónica BCR-ABL Positiva/sangre , Recuento de Leucocitos , Masculino , Oximetría
10.
Rev. méd. Chile ; 140(4): 503-506, abr. 2012. ilus
Artículo en Español | LILACS | ID: lil-643221

RESUMEN

Background: Arterial gasometry is considered the gold standard for establishing a diagnosis of respiratory failure of any etiology. However, there are some circumstances in which it loses specificity, making necessary to consider other tests such as pulse oximetry to adequately determine hypoxemia. We report a 67 years old patient with sudden hypoacusia, right hemiparesis and polypnea. His laboratory exams on admission, showed extreme hypoxemia in several readings, without correlation to the patient's clinical condition nor the pulse oximetry, and a leukocytosis of 800.000 cells x ml, with many immature cells. Chronic myeloid leukemia was diagnosed and treatment with hydroxyurea was initiated, achieving normalization in the arterial gases in accordance with the fall of the white cell count. Interpretation of laboratory findings according to the general clinical context of the patient allowed to suspect a spurious hypoxemia, saving the patient from unnecessary and risky interventions.


Asunto(s)
Anciano , Humanos , Masculino , Hipoxia/etiología , Leucemia Mielógena Crónica BCR-ABL Positiva/complicaciones , Leucocitosis/complicaciones , Hipoxia/sangre , Análisis de los Gases de la Sangre , Leucemia Mielógena Crónica BCR-ABL Positiva/sangre , Recuento de Leucocitos , Oximetría
11.
Rev. chil. endocrinol. diabetes ; 3(3): 181-184, jul. 2010. ilus, tab
Artículo en Español | LILACS | ID: lil-610315

RESUMEN

Primary adrenal failure (PAF) can be congenital or acquired. X-linked adrenoleukodystrophy (ALD-X), produced by the mutation of the ABDC1 gene (Xq28), that leads to the plasma accumulation of very long chain fatty acids, is one of the congenital diseases associated to adrenal destruction. We report a 7 years old boy with fast progression of right strabismus and general symptoms as weariness, weakness and mucosal and skin pigmentation. A brain magnetic resonance image showed a leukoencephalopathy, characteristic of ALD-X. Low plasma cortisol, high ACTH levels and lack of response to ACTH test, confirmed the diagnosis of primary adrenal insufficiency. High plasma levels of C26:0 fatty acids, and C24/22, C26/22 ratios confirmed ALD-X.


Asunto(s)
Humanos , Masculino , Niño , Adrenoleucodistrofia/diagnóstico , Enfermedad de Addison/etiología , Enfermedad de Addison/tratamiento farmacológico , Ácidos Grasos/sangre , Adrenoleucodistrofia/complicaciones , Adrenoleucodistrofia/sangre , Antiinflamatorios/uso terapéutico , Cerebro/patología , Estrabismo/etiología , Insuficiencia Suprarrenal/etiología , Insuficiencia Suprarrenal/tratamiento farmacológico , Imagen por Resonancia Magnética
13.
Rev Med Chil ; 136(7): 892-5, 2008 Jul.
Artículo en Español | MEDLINE | ID: mdl-18949166

RESUMEN

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam of ataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differential diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electron microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.


Asunto(s)
Parálisis Cerebral/diagnóstico , Mucolipidosis/diagnóstico , Niño , Chile , Diagnóstico Diferencial , Femenino , Humanos , Indígenas Sudamericanos , Espectroscopía de Resonancia Magnética , Mucolipidosis/etnología
14.
Rev. méd. Chile ; 136(7): 892-895, jul. 2008. ilus
Artículo en Español | LILACS | ID: lil-496011

RESUMEN

We report a 7 year-old girl with mapuche ancestors, diagnosed as a cerebral palsy since infancy and on active rehabilitation. She acquired motor and cognitive skills at 3 years of age. At 5 years of age, a slow neurological deterioration started, associated to visual impairment. Optic atrophy was added to the typical neurological exam ofataxic cerebral palsy and the diagnosis was re-considered. Neuroimaging showed a slow and progressive atrophy of intracerebral structures and ultramicroscopy revealed intracytoplasmatic inclusions in conjunctiva and skin, compatible with mucolipidoses type IV (ML-IV). ML-IV must be included in the differencial diagnosis of cerebral palsy associated with loss of acquired skills and progressive visual impairment. Electrón microscopy of skin or conjunctiva is a useful diagnostic test. Suspicion of ML-IV must not be restricted to Ashkenazi Jewish population.


Asunto(s)
Niño , Femenino , Humanos , Parálisis Cerebral/diagnóstico , Mucolipidosis/diagnóstico , Chile , Diagnóstico Diferencial , Indígenas Sudamericanos , Espectroscopía de Resonancia Magnética , Mucolipidosis/etnología
16.
Rev. méd. Chile ; 130(3): 259-266, mar. 2002. tab
Artículo en Español | LILACS | ID: lil-314851

RESUMEN

Background: Propionic aciduria (PA) and Methymalonic aciduria (MMA) result from an inherited abnormality of the enzymes propionyl CoA carboxylase and methylmalonyl CoA mutase respectively. This produces marked increases in the amino acids methionine, threonine, valine and isoleucine (MTVI). Their clinical presentation can be neonatal or late onset forms. Aim: To report 23 children with organic acidurias. Material and methods: Twenty three cases of organic acidurias diagnosed since 1980 (17 PA and 6 MMA) and followed at the Institute of Nutrition and Food Technology, are reported. Results: The average age of diagnosis was 3.9 days for the neonatal form and 8.3 months for the late onset form. The most frequent symptoms were hypotonia, lethargy and vomiting. Neonatal PA had mean ammonemias of 1089ñ678.3 µg/dl. The figure for MMA was 933ñ801.9 µg/dl. Seven children were dialyzed and 30 percent died. 16 children are followed and 81.2 percent have normal weight for age. Seven children required gastrostomy because of anorexia and failure to thrive. The nutritional treatment is based on natural and artificial proteins without MTVI, with periodical controls, amino acid and ammonia quantification. Some patients were submitted to enzyme assays and molecular studies. Conclusions: An early diagnosis and a very strict follow up allows a normal development of children with organic aciduras. There is a relationship between prognosis and the presentation form, the nutritional status and the emergency treatment during acute episodes. The importance of the enzymatic and molecular studies is emphasized because they facilitate treatment, accurate diagnosis and allow an adequate genetic counseling


Asunto(s)
Humanos , Masculino , Femenino , Recién Nacido , Lactante , Preescolar , Ácido Metilmalónico/orina , Propionatos/orina , Errores Innatos del Metabolismo de los Aminoácidos/diagnóstico , Estado Nutricional , Metilmalonil-CoA Mutasa , Ácido Metilmalónico/metabolismo , Propionatos/metabolismo , Aminoácidos/administración & dosificación , Errores Innatos del Metabolismo de los Aminoácidos/dietoterapia , Errores Innatos del Metabolismo de los Aminoácidos/tratamiento farmacológico , Ingestión de Energía
17.
Rev. méd. Chile ; 129(2): 179-86, feb. 2001. ilus, tab
Artículo en Español | LILACS | ID: lil-284985

RESUMEN

Background: The restless legs syndrome (RLS) is a movement disorder characterized by an imperative urge to move the legs, associated with paraesthesias, motor restlessness and worsening of symptoms at night with at least partial relief by activity. Its prevalence ranges between 2-15 percent of general adult population and 20-30 percent of uremic patients. Aim: To evaluate the frecuency and the clinical features of RLS in a sample of general adult population and in uremic patients, in Chile, correlating it with biochemical parameters. Method: 100 relatives of outpatients and 166 uremic patients undergoing chronic haemodialysis were interviewed assessing the presence and severity of RLS according to current diagnostic criteria. Biochemical parameters assessed were hematocrit, serum ferritin, phosphate, intact parathyroid hormone (iPTH) levels. Results: 13 percent of the general population sample was affected, 15 percent of them were severe. Forty three cases were found among uremic patients (25.9 percent) (p <0.01 vs general population), 60 percent of them were severe and women were affected with higher frequency (p <0.05) and severity (p <0.01). Four patients presented RLS even during hemodialysis. No correlation was found with biochemical parameters. Most RLS cases had not been diagnosed previously. Conclusions: In our population RLS is common and undetected. It is especially prevalent and severe in uremic patients: we found no evidence that anaemia, iron deficiency or iPTH level play a major pathogenic role. Our findings emphasize the need of greater medical awareness of RLS because available therapy may improve the quality of life


Asunto(s)
Humanos , Masculino , Femenino , Adolescente , Adulto , Persona de Mediana Edad , Síndrome de las Piernas Inquietas/epidemiología , Estudios de Casos y Controles , Enfermedades Renales/complicaciones , Enfermedades del Sistema Nervioso Periférico/epidemiología
18.
Rev. méd. Chile ; 128(1): 9-16, ene. 2000. tab, graf
Artículo en Español | LILACS | ID: lil-258082

RESUMEN

Background: High density lipoproteins are an heterogeneous population of particles. Two main subpopulations have been identified, one contains Apo A-I and Apo A-II and is denominated LpA-I:A-II and another one contains only Apo A-I and is denominated LpA-I. Aim: To measure the concentrations of these particles in patients with stable coronary artery disease. Patients and Methods: Serum lipids, A-I and B apolipoproteins, LpA-I, LpA-I:A-II and LpB particles were measured in 73 men aged 33 to 82 years with angiographically documented coronary artery disease (CAD) and 33 control subjects aged 39 to 76 years. LpA-I, LpA-I:A-II and LpB were measured by a noncompetitive enzyme linked immunoassay using previously characterized monoclonal antibodies against ApoA-I, ApoA-II and apoB. Results: Patients with CAD had significantly higher mean levels of LDL cholesterol than the control group (p= 0.038). The mean concentration of LpA-I particles in patients with CAD was significantly lower (p= 0.031) than in control subjects, while the concentration of LpA-I:A-II particles was significantly higher (p=0.016). The percentage of coronary stenosis correlated negatively with LpA-I and positively with LpA-I:A-II. The best relative risk (RR) indicator in these patients was LDL-cholesterol. The relative risk increases 2.5 fold when LpA-I falls below the cut-off level. Likewise, the relative risk increases 3-fold when LpA-I:A-II raises over the cut-off level. Conclusions: Our findings indicate that the quantification of LpA-I and LpA-I:A-II particles might allow a more accurate evaluation of the CAD risk than HDL cholesterol. LpA-I might represent the antiatherogenic fraction of HDL


Asunto(s)
Humanos , Masculino , Adulto , Persona de Mediana Edad , Enfermedad Coronaria/sangre , Lipoproteínas/sangre , Ensayo de Inmunoadsorción Enzimática , Estudios de Casos y Controles , Colesterol/sangre , HDL-Colesterol/sangre , Apolipoproteínas/sangre
19.
Plant Dis ; 84(10): 1152, 2000 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-30831915

RESUMEN

Banana streak badnavirus (BSV) is the most widely occurring virus in banana and plantain (1) but has not been reported to be a significant problem in commercial export bananas. In early 1999, the first severe outbreak of BSV infection in commercial export bananas (Musa AAA cv. Grand Nain) was recorded at Siquirres on the Atlantic coast of Costa Rica. Disease incidence in the plantation was 60% and symptoms included foliar chlorotic streaks, stunting of plants, splitting and internal necrosis of pseudostems and fruits, cigar leaf necrosis, and bunch emergence through the pseudostem. Diseased plants within a 0.8 ha area were eliminated to prevent possible further spread of the disease. The presence of BSV in diseased plants was confirmed by enzyme-linked immunosorbent assay and immunosorbent electron microscopy (1). Cucumber mosaic virus and Banana mild mosaic virus, which also occur in banana and plantain in Latin America (2), were not detected in the plants tested. Other recent accounts of BSV occurrence in commercial banana plantations in South America (our unpublished results) suggest that BSV occurrence in export bananas may be more significant than previously thought. References: (1) F. Gauhl et al. Int. J. Pest Management 45:167, 1991. (2) D. R. Jones, ed. 1999. Diseases of Banana, Abacá and Enset. CABI Publishing, Wallingford, U.K.

20.
Acta Gastroenterol Latinoam ; 29(1): 17-20, 1999.
Artículo en Español | MEDLINE | ID: mdl-10435189

RESUMEN

Helicobacter Pylori colonize the gastric mucosa and their adaptation to this environment is related with its high activity urease. This enzyme hydrolyzes the gastric urea, neutralizing the acid environment of the bacteria. Based on that reaction numerous presumptive diagnosis tests, have been developed using a solution of urea (usually 6%) with a pH indicator (usually 0.05% fenol-red); nevertheless, the color changes are so light that some persons do not detect it. For that reason, a modification of that reaction was proposed using a mix of pH indicators (0.05% fenolred and 0.002 bromothymol blue) which induces a color change from light green to deep purple. Also, the reaction of urease was evaluated using only bromothymol blue. The reaction using fenol red as indicator showed the higher values for sensitivity of 58.8% and the specificity of 66.6%; whereas using only bromothymol-blue those values were 46 y 71.4% respectively. The efficiency of the test using fenol-red or the mix of this bromothymol- was 64.2 y 62.2%, respectively; however, the mix of indicators induce a change color easily detected, because of changes from ligh-green to deep-purple.


Asunto(s)
Infecciones por Helicobacter/diagnóstico , Helicobacter pylori , Ureasa/metabolismo , Azul de Bromotimol , Humanos , Indicadores y Reactivos , Fenolsulfonftaleína , Sensibilidad y Especificidad
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA