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2.
Rev Neurol ; 67(12): 484-490, 2018 Dec 16.
Artículo en Español | MEDLINE | ID: mdl-30536362

RESUMEN

INTRODUCTION: The different types of viral meningitis constitute a condition that is relatively frequent in newborn infants, although in many cases they are underdiagnosed due to the absence of pleocytosis in the cerebrospinal fluid (CSF). AIMS: To describe the clinical features and laboratory findings of newborn infants with viral meningitis and to highlight the importance of the polymerase chain reaction (PCR) in the CSF to diagnose this condition. PATIENTS AND METHODS: A retrospective review of the medical records of newborn infants hospitalised in the neonatology section who had been diagnosed with viral meningitis between May 2014 and May 2017. RESULTS: Altogether 17 cases of viral meningitis were registered (15 caused by enterovirus and two due to parechovirus), which accounts for 14.8% of all newborns hospitalised owing to febrile symptoms. All of them had fever (100%), and other notable symptoms were irritability (76%) and rejection of feeding (65%). Normal cellularity was found in the CSF without high protein levels in 88% of them, and without hypoglycorrhachia in all of them (100%), which meant that many of these children had previously been left with a diagnosis of a febrile syndrome with no focus. These data stress the need to perform the PCR in the CSF of newborn infants who have a fever without a focus, due to the normal status of the results of the complementary tests in most cases. Subsequent neurological follow-up was performed in 64.7% of the children in the neurology service, without any neurological sequelae being found, except in one case. CONCLUSIONS: Multiple PCR in the CSF has become an essential diagnostic technique in cases of newborn infants with a suspected infection, and replaces viral culture as the reference test due its being quicker and more sensitive.


TITLE: Meningitis viricas neonatales. Importancia de la reaccion en cadena de la polimerasa en su diagnostico.Introduccion. Las meningitis viricas representan una entidad relativamente frecuente en los recien nacidos, aunque en muchos casos infradiagnosticadas, ante la ausencia de pleocitosis en el liquido cefalorraquideo (LCR). Objetivos. Describir las caracteristicas clinicas y los hallazgos de laboratorio de neonatos con meningitis viricas y destacar la importancia de la reaccion en cadena de la polimerasa (PCR) en el LCR para diagnosticar esta patologia. Pacientes y metodos. Revision retrospectiva de historias clinicas de neonatos ingresados en la seccion de neonatologia diagnosticados de meningitis virica entre mayo de 2014 y mayo de 2017. Resultados. Se registraron 17 casos de meningitis virica (15 causadas por enterovirus y dos por parechovirus), que constituyen el 14,8% de los neonatos ingresados por sindrome febril. Todos manifestaron fiebre (100%), y otros sintomas destacados fueron irritabilidad (76%) y rechazo de la ingesta (65%). El 88% curso con celularidad normal en el LCR y sin hiperproteinorraquia, y el 100%, sin hipoglucorraquia, por lo que previamente muchos de estos niños quedaban con el diagnostico de sindrome febril sin foco. Estos datos resaltan la necesidad de realizar la PCR en el LCR a neonatos con fiebre sin foco, debido a la normalidad de las pruebas complementarias en la mayoria de los casos. El 64,7% de los niños recibio seguimiento neurologico posterior en consulta de neurologia, sin objetivarse secuelas neurologicas, salvo en uno de ellos. Conclusiones. La PCR multiple en el LCR se ha convertido en una tecnica diagnostica imprescindible en el recien nacido con sospecha de infeccion y sustituye al cultivo viral como prueba de referencia por su mayor rapidez y sensibilidad.


Asunto(s)
Meningitis Viral/líquido cefalorraquídeo , Meningitis Viral/diagnóstico , Reacción en Cadena de la Polimerasa , Femenino , Humanos , Recién Nacido , Masculino , Meningitis Viral/epidemiología , Estudios Retrospectivos
3.
Spine J ; 16(7): 862-6, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26975458

RESUMEN

BACKGROUND: Adult spine deformity surgery (ASDS) is a significantly invasive procedure with a relatively high complication rate. The thirty-day hospital readmission rate following surgery is an important quality measure monitored by multiple quality reporting agencies. PURPOSE: This study seeks to determine the risk factors for 30- day readmission rate in patients undergoing ASDS and identify the risk factors associated with readmission. STUDY DESIGN: This is a retrospective multicenter study. METHODS: The National Surgical Quality Improvement Program database, which is a large multi-institutional database, was searched for patients that underwent ASDS from 2011 to 2013. The patients were identified by searching seven Current Procedural Terminology codes most commonly used for spinal deformity surgery. Twenty-seven preoperative variables, including patient demographics and comorbidities, intraoperative parameters, and postoperative complications were analyzed to identify risk factors for readmission. RESULTS: A total of 747 adult patients who underwent ASDS were identified. Of the 747 patients, 7.5% (56/747) were readmitted within 30 days. The most common causes of readmission were infection (n=11), hematoma or seroma formation (n=5), and postoperative pain (n=3). Univariate analysis revealed male gender (p=.038, odds ratio [OR]=1.83) and pulmonary embolism before discharge (p=.048, OR=8.44) to be associated with readmission. In multivariate analysis, obesity (p=.047, OR=1.80), peripheral vascular disease (p=.045, OR=17.52), pulmonary embolism before discharge (p=.012, OR=10.35), and total or partial dependent preoperative functional health status (p=.041, OR=2.45), were found to be independent risk factors for readmission. Age, smoking, and resident involvement during surgical procedure were among the many factors not associated with increased risk of readmission. CONCLUSIONS: The 30-day readmission rate for ASDS is increasingly becoming a significant health-care quality indicator. Patients with the aforementioned significant risk factors should be closely followed up, which can potentially avoid subsequent readmission.


Asunto(s)
Procedimientos Neuroquirúrgicos/efectos adversos , Readmisión del Paciente/estadística & datos numéricos , Complicaciones Posoperatorias/epidemiología , Curvaturas de la Columna Vertebral/cirugía , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Neuroquirúrgicos/estadística & datos numéricos , Mejoramiento de la Calidad
4.
An Pediatr (Barc) ; 63(5): 418-25, 2005 Nov.
Artículo en Español | MEDLINE | ID: mdl-16266617

RESUMEN

OBJECTIVE: To assess the prevalence of functional constipation (FC) with and without encopresis, the factors involved in its onset, and treatment response. PATIENTS AND METHODS: A prospective study of 62 children was performed using a standard questionnaire (onset-age, regular toilet use, encopresis, complications, dietary habits and environmental and psychological factors) and physical and anthropometric assessment. FC was defined as a stool frequency of less than 3 bowel movements/week, with passage of large or scybalous stools, with or without 2 or more soiling episodes per week, without underlying disease. Treatment included demystification, behavioral modification and drugs (mineral oil and senna). Each child was periodically re-evaluated, and treatment was considered successful when the defecation rate was 3 or more bowel movements/week, discomfort was absent, and fecal soiling frequency was 2 or fewer episodes/ month. RESULTS AND CONCLUSIONS: FC accounted for 13 % of all first consultations (60 % boys, 40 % girls; mean age at diagnosis 6.1 years). The most frequent manifestations were painful defecation (60 %), rectorrhagia (42 %), obstructive episodes (34 %) and anal fissure or hemorrhoids (17 %); 19 patients (31 %) had encopresis. Nutritional assessment revealed that 84 % of the patients was well nourished and 16 % was overweight. Fiber intake was deficient in more than 60 %. Sixteen (26 %) patients underwent successful relief of impaction with senna (20-30 mg/dose) combined with mineral oil. Maintenance treatment included mineral oil (15-30 ml/day) and senna at the minimum effective dose (5-15 mg/day). Satisfactory results were achieved 1 month later in 32 % of the children, 3-6 months later in 71 %, and 6-12 months later in 85 %; successful response was closely related to regular toilet habits, dietary modification and a shift in the family's attitude.


Asunto(s)
Catárticos/uso terapéutico , Estreñimiento/fisiopatología , Estreñimiento/terapia , Aceite Mineral/uso terapéutico , Extracto de Senna/uso terapéutico , Adolescente , Niño , Preescolar , Terapia Combinada , Estreñimiento/epidemiología , Dietoterapia/métodos , Encopresis/tratamiento farmacológico , Encopresis/epidemiología , Conducta Alimentaria , Femenino , Humanos , Lactante , Masculino , Dolor/epidemiología , Educación del Paciente como Asunto , Prevalencia , Estudios Prospectivos , Resultado del Tratamiento
5.
Thromb Haemost ; 74(2): 660-6, 1995 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8585003

RESUMEN

Low molecular weight heparin (LMWH) is currently prescribed for the treatment of deep vein thrombosis at the dose of 100 IU antiXa/kg twice daily or at a dose of 175 IU antiXa/kg once daily with a similar efficacy. We decided to study the chrono-pharmacology of curative dose of LMWH once daily administrated according to the one previously described with unfractionated heparin (UFH). Ten healthy volunteers participated in an open three-period crossover study according to three 24 h cycles, separated by a wash-out interval lasting 7 days: one control cycle without injection, two cycles with subcutaneous injection of 200 IU antiXa/kg of Dalteparin (Fragmin) at 8 a.m. or at 8 p.m. Parameters of heparin activity were analysed as maximal values and area under the curve. Activated partial thromboplastin time (APTT), thrombin time (TT), prothrombin time (PT) and tissue factor pathway inhibitor (TFPI) were higher after 8 p.m. injection than after 8 a.m. injection (p < 0.05) while no chrono-pharmacological variation of anti factor Xa (AXa) activity was observed. Thus the biological anticoagulant effect of 200 IU antiXa/kg of Dalteparin seems to be higher after an evening injection than after a morning injection. A chrono-therapeutic approach with LMWH, as prescribed once daily, deserves further investigation since our results suggest that a preferential injection time may optimise the clinical efficacy of these LMWH.


Asunto(s)
Coagulación Sanguínea/efectos de los fármacos , Dalteparina/administración & dosificación , Adulto , Factores de Coagulación Sanguínea/análisis , Ritmo Circadiano , Estudios Cruzados , Dalteparina/farmacocinética , Dalteparina/farmacología , Esquema de Medicación , Inhibidores del Factor Xa , Humanos , Inyecciones Subcutáneas , Lipoproteínas/análisis , Masculino , Tiempo de Tromboplastina Parcial , Tiempo de Protrombina , Tiempo de Trombina , Activador de Tejido Plasminógeno/análisis
6.
Am J Surg ; 133(5): 597-600, 1977 May.
Artículo en Inglés | MEDLINE | ID: mdl-193411

RESUMEN

Oxygen consumption glucose oxidation via the hexose monophosphate shunt, and superoxide production by resting and stimulated leukocytes derived from rabbit blood and from experimental rabbit wounds five to seventeen days old were measured and compared. In vitro killing of staphylococci by blood and wound leukocytes was also measured. In all of these studies there were no significant functional differences between blood and wound cells. The data presented suggest that under the same in vitro conditions, blood and wound leukocytes are functionally equivalent, that tissue mobilization does not cause alteration of wound leukocytes, and that aging of the wound does not impair the microbicidal capacity of wound leukocytes.


Asunto(s)
Actividad Bactericida de la Sangre , Consumo de Oxígeno , Fagocitos/metabolismo , Procedimientos Quirúrgicos Operativos , Heridas y Lesiones , Animales , Femenino , Glucosa/metabolismo , Leucocitos/metabolismo , Conejos , Staphylococcus aureus , Superóxidos/metabolismo
7.
An Med Interna ; 6(11): 580-4, 1989 Nov.
Artículo en Español | MEDLINE | ID: mdl-2562700

RESUMEN

95 pleural effusions of different etiology were studied. 25 were transudate, 22 neoplastic, 28 caused by tuberculosis, and 20 miscellaneous. The Light parameters (pleural protein/plasma) (Prot LP/P), Pleural LDH (LDH LP) and LDH pleural/plasma quotient (LDH LP/P) were determined and compared with the efficacy of pleural cholesterol (Chol LP) and pleural cholesterol/plasma quotient (Chol LP/P) to differentiate the transudate from pleural exudate. With Prot LP/P quotient the sensitivity was of 85% and the specificity 91.6%; with LDH LP the sensitivity was of 74.6% and the specificity 97.6%. With the LDH LP/P quotient the sensitivity was of 89% and the specificity 87.8%. The sensitivity of each parameter was similar to that obtained by Light but less specific. All the transudates had levels of chol LP lower than 55 mq/dl (100% specificity) with a sensitivity of 84%. The Chol LP/P quotient had a limit of 0.3, this being its sensitivity of 91.3% and 93.1% its specificity. The presence of both parameters were necessary to the classification and the sensitivity obtained being of 80.3% and the specificity 100%. We concluded that the determinations of Chol LP and the Chol LP/P quotient are of great advantage in differentiating the pleural transudate from pleural exudate and the predictive value is, at least, similar to that obtained by Light.


Asunto(s)
Colesterol/análisis , Derrame Pleural Maligno/química , Derrame Pleural/química , Adulto , Anciano , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Derrame Pleural/diagnóstico , Derrame Pleural/etiología , Derrame Pleural Maligno/diagnóstico , Derrame Pleural Maligno/etiología , Pronóstico , Sensibilidad y Especificidad
8.
Arch Soc Esp Oftalmol ; 88(10): 398-402, 2013 Oct.
Artículo en Español | MEDLINE | ID: mdl-24060304

RESUMEN

Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classictriad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of thebrain midline (including agenesis of the septum pellucidum and/or the corpus callosum; ithas also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateralmydriasis as a manifestation ofhypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder.We discuss thedifferential diagnosis of congenital mydriasis.


Asunto(s)
Anomalías Múltiples/diagnóstico , Midriasis/congénito , Displasia Septo-Óptica/diagnóstico , Atrofia , Ceguera/etiología , Movimiento Celular , Ventrículos Cerebrales/anomalías , Diagnóstico Diferencial , Diagnóstico Precoz , Humanos , Recién Nacido , Discapacidad Intelectual/etiología , Masculino , Midriasis/etiología , Nervio Óptico/patología , Hipófisis/anomalías , Tabique Pelúcido/anomalías
9.
J Bone Joint Surg Br ; 92(5): 707-12, 2010 May.
Artículo en Inglés | MEDLINE | ID: mdl-20436010

RESUMEN

Bone loss secondary to primary or metastatic lesions of the proximal humerus remains a challenging surgical problem. Options include preservation of the joint with stabilisation using internal fixation or resection of the tumour with prosthetic replacement. Resection of the proximal humerus often includes the greater tuberosity and adjacent diaphysis, which may result in poor function secondary to loss of the rotator cuff and/or deltoid function. Preservation of the joint with internal fixation may reduce the time in hospital and peri-operative morbidity compared with joint replacement, and result in a better functional outcome. We included 32 patients with pathological fractures of the proximal humerus in this study. Functional and radiological assessments were performed. At a mean follow-up of 17.6 months (8 to 61) there was no radiological evidence of failure of fixation. The mean revised musculoskeletal Tumour Society functional score was 94.6% (86% to 99%). There was recurrent tumour requiring further surgery in four patients (12.5%). Of the 22 patients who were employed prior to presentation all returned to work without restrictions. The use of a locking plate combined with augmentation with cement extends the indications for salvage of the proximal humerus with good function in patients with pathological and impending pathological fractures.


Asunto(s)
Cementos para Huesos/uso terapéutico , Neoplasias Óseas/cirugía , Placas Óseas , Fijación Interna de Fracturas/métodos , Fracturas Espontáneas/cirugía , Adulto , Anciano , Biopsia , Neoplasias Óseas/complicaciones , Neoplasias Óseas/patología , Tornillos Óseos , Femenino , Fijación Interna de Fracturas/instrumentación , Curación de Fractura , Fracturas Espontáneas/diagnóstico por imagen , Fracturas Espontáneas/etiología , Humanos , Masculino , Persona de Mediana Edad , Dolor/etiología , Manejo del Dolor , Polimetil Metacrilato , Implantación de Prótesis/instrumentación , Implantación de Prótesis/métodos , Radiografía , Recuperación de la Función , Recurrencia , Manguito de los Rotadores/fisiología , Resultado del Tratamiento
11.
Plant Sci ; 157(2): 181-190, 2000 Aug 22.
Artículo en Inglés | MEDLINE | ID: mdl-10960731

RESUMEN

A partial cDNA clone corresponding to the multi-functional acetyl-CoA carboxylase (ACCase, EC 6.4.1.2) was isolated using RNA extracted from methyl jasmonate (MeJA)-induced common bean cell cultures. Most of this clone corresponds to the 3' untranslated region and it showed high identity to alfalfa and soybean ACCase sequences. Southern hybridization revealed one copy of this gene in the common bean genome. In addition to being induced by MeJA in cell cultures and leaves, ACCase mRNA accumulated after yeast elicitor or Pseudomonas syringae pv tabaci treatment. Inhibitors of the octadecanoid pathway severely reduced ACCase mRNA and protein accumulation induced by yeast elicitor or P. syringae pv tabaci, indicating that jasmonates or a precursor mediate ACCase induction after pathogen infection. These results provide a role for the eukaryotic ACCase during the defense response to pathogens in common bean.

12.
J Biol Chem ; 266(6): 3870-6, 1991 Feb 25.
Artículo en Inglés | MEDLINE | ID: mdl-1847390

RESUMEN

Limited proteolysis of solubilized beef heart mitochondrial complex III with trypsin yields a product previously identified as fragment V" (González-Halphen, D., Lindorfer, M. A., and Capaldi, R. A. (1988) Biochemistry 27, 7021-7031). In this work, fragment V" was generated by trypsin treatment of both the intact complex III and the purified Rieske iron-sulfur protein. Thus, in its bound or isolated form, the same sites of subunit V are sensitive to protease action. Fragment V" was a soluble protein that retained its iron-sulfur moiety. It was purified by exclusion from a hydrophobic phenyl-Sepharose CL-4B column followed by gel filtration. In contrast to the pure, intact subunit V, fragment V" did not reconstitute oxidoreductase activity when combined with complex III devoid of subunit V. However, a 20-amino acid synthetic peptide carrying the sequence between amino acids Lys33 and Lys52 of the Rieske iron-sulfur protein competed with intact subunit V in reconstitution assays. The results obtained suggest that the iron-sulfur protein binds to complex III by hydrophobic protein-protein interactions, and that a nontransmembrane 18-amino acid amphipathic stretch accounts for the association of this subunit to the rest of the complex.


Asunto(s)
Complejo III de Transporte de Electrones/metabolismo , Proteínas Hierro-Azufre/metabolismo , Mitocondrias Cardíacas/enzimología , Secuencia de Aminoácidos , Animales , Bovinos , Complejo III de Transporte de Electrones/genética , Electroforesis en Gel de Poliacrilamida , Hidrólisis , Proteínas Hierro-Azufre/genética , Datos de Secuencia Molecular , Conformación Proteica , Homología de Secuencia de Ácido Nucleico , Tripsina
13.
J Allergy Clin Immunol ; 69(5): 444-7, 1982 May.
Artículo en Inglés | MEDLINE | ID: mdl-7076984

RESUMEN

The capacity of polymorphonuclear leukocytes (PMNs) to kill Staphylococcus aureus strains 502 A was studied in 25 patients receiving theophylline therapy and in normal healthy controls. A significant difference in PMN bactericidal capacity was found between controls and patients with serum theophylline levels higher than 8 micrograms/ml, as determined by high-pressure liquid chromatography. The bactericidal capacity of PMNs from both the patient and control populations was reduced in the presence of theophylline levels above 8 micrograms/ml. In addition, a transient but significant drug-independent reduction was found in the bactericidal capacity of transient but significant drug-independent reduction was found in the bactericidal capacity of PMNs from patients receiving theophylline.


Asunto(s)
Actividad Bactericida de la Sangre/efectos de los fármacos , Neutrófilos/efectos de los fármacos , Teofilina/farmacología , Adolescente , Adulto , Asma/tratamiento farmacológico , Niño , Preescolar , Humanos , Lactante , Persona de Mediana Edad , Staphylococcus aureus/efectos de los fármacos , Teofilina/sangre , Teofilina/uso terapéutico
14.
J Allergy Clin Immunol ; 56(3): 191-205, 1975 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-1151013

RESUMEN

The rate of DNA synthesis by human lymphocytes was studied in vitro by measuring unstimulated thymidine-2-14C incorporation (spontaneous lymphocyte blastogenesis; SLB). Freezing lymphocytes and extracting DNA after thawing did not alter the radioactive label count rate and was as efficient as extracting DNA immediately after culture. Omission of fetal calf serum also did not alter the rate of DNA synthesis. Standards established as optimal for studies of SLB were: cell concentration, 1.0 times 10(6)/ml/tube; 14C-TdR concentration, 0.4 mjCi/tube; duration of incubation, 8 hr. In sets of identical samples obtained by specimen division, the variation in counts was 6%. To achieve reproducibility of results; it was essential to count the lymphocytes, and then to ensure that each tube contained almost precisely known numbers of cells. Diurnal variations in the rate of DNA synthesis by circulating lymphocytes of healthy men were measured in vitro by SLB at 2-hr intervals for 24 hr. Leukocyte counts, hematocrit, hemoglobin, plasma cortisol, and body temperature were monitored concurrently. The DNA synthesis rate varied in a 24-hr cycle with peaks at 10 A.M. and 11:00 P.M.., depressions at 4 A.M. and 4 P.M. The rate was correlated with body temperature and hematocrit level, and inversely related to the absolute eosinophil count.


Asunto(s)
Ritmo Circadiano , Técnicas de Cultivo/normas , ADN/biosíntesis , Linfocitos/inmunología , Timidina/metabolismo , Adulto , Recuento de Células Sanguíneas , Radioisótopos de Carbono , Separación Celular , Supervivencia Celular , Centrifugación por Gradiente de Densidad , Medios de Cultivo , Diatrizoato , Ficoll , Congelación , Humanos , Hidrocortisona/sangre , Recuento de Leucocitos , Activación de Linfocitos , Masculino , Factores de Tiempo
15.
Public Health Nurs ; 14(6): 353-60, 1997 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-9439174

RESUMEN

Human exposure to environmental hazards is a major public health problem along the US-Mexico border due to socioeconomic, cultural and political factors. Childhood lead exposure is endemic in areas of extreme poverty and substandard housing. Hispanic children of indigent, poorly-educated, disenfranchised families are at disproportionate risk. Risk management is contingent upon consideration of the interrelationships between socioeconomics, politics, and culture. This case study explains childhood lead poisoning in a colonia family living at subsistence level from such a perspective. The purpose of the study was to identify, explain, and ameliorate lead exposure pathways. Case study methodology was used to support or refute the proposition that these children were exposed to occupational lead. The children were the study sampling unit and the family a subunit. An embedded single case explanatory design was appropriate. Data were collected from exposure surveys, environmental and blood specimens, and review of medical records. Pattern-matching and explanation-building techniques were used to analyze data. The study illustrated how extreme poverty, lack of access to health services, social isolation, language and legal barriers, and hazardous occupations may be singularly common risk factors for Hispanic children on the US-Mexico border. The study is pertinent to public health nurses who work with this population.


Asunto(s)
Hispánicos o Latinos , Intoxicación por Plomo/prevención & control , Pobreza , Niño , Preescolar , Femenino , Humanos , Lactante , Intoxicación por Plomo/epidemiología , Intoxicación por Plomo/enfermería , Masculino , México/etnología , Enfermería en Salud Pública , Factores de Riesgo , Estados Unidos/epidemiología
16.
Arch. Soc. Esp. Oftalmol ; 88(10): 398-402, oct. 2013. ilus, tab
Artículo en Español | IBECS (España) | ID: ibc-116380

RESUMEN

La displasia septo-óptica (DSO)[MIM182230] es una entidad heterogénea poco frecuente, caracterizada por la tríada clásica: hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral (incluyendo agenesia del septumpellucidumy/o del cuerpo calloso; también se han descrito malformaciones corticales asociadas, citado como síndrome DSO plus). Referimos el primer caso clínico conocido, en el que el signo de diagnóstico inicial de DSO fue una midriasis bilateral, como manifestación de hipoplasia de ambos nervios ópticos, hipoplasia hipofisaria y disgenesia cerebral con alteración de migración neuronal. Discutimos el diagnóstico diferencial de la midriasis congénita (AU)


Septo-optic dysplasia (SOD)[MIM182230] consisting of a heterogeneous and uncommon condition characterised by the classic triad: optic nerve hypoplasia, abnormalities of pituitary hormone, and defects of the brain midline (including agenesis of the septum pellucidum and/or the corpus callosum; it has also been described associated cortical malformations, it was referred to as SOD plus syndrome).We report the first known case in which the initial diagnostic sign of SOD was a bilateral mydriasis as a manifestation of hypoplasia of both optic nerves, pituitary hypoplasia andcerebral dysgenesis with neuronal migration disorder. We discuss the differential diagnosis of congenital mydriasis (AU)


Asunto(s)
Humanos , Displasia Septo-Óptica/diagnóstico , Midriasis/congénito , Conducción Nerviosa/fisiología , Nervio Óptico/fisiopatología
17.
Rev. neurol. (Ed. impr.) ; 54(4): 241-248, 16 feb., 2012. ilus
Artículo en Español | IBECS (España) | ID: ibc-100183

RESUMEN

La ictiosis ligada al cromosoma X está causada por mutación o deleción del gen STS asociado a la deficiencia dela enzima sulfatasa esteroidea, localizada en la parte distal del brazo corto del cromosoma X (Xp22.3-pter), cerca de la región pseudoautosómica. Dependiendo de su extensión, puede presentarse como una entidad aislada o en combinación con un síndrome de genes contiguos, asociándose a otras enfermedades monogénicas, así como a otros trastornos mentales.Se revisa la bibliografía, destacando la importancia de la región Xp22.3-pter y la mayor incidencia de trastornos neurológicos en varones (trastorno por déficit de atención/hiperactividad, autismo y retraso mental ligado a X). Se discuteel papel e implicación de estos genes en la enfermedad y se propone la posible contribución del gen PNPLA4, originalmente descrito como GS2 y codificante de la fosfolipasa A2 independiente del calcio-eta, involucrada en el metabolismolipoproteico, como una de las causas de autismo. Se ha objetivado mejoría tras el tratamiento con citicolina, a través del papel que este nootropo desempeña en la biosíntesis de fosfolípidos estructurales involucrados en la formación y reparación de la membrana neuronal (AU)


X-chromosome-linked ichthyosis is caused by mutation or deletion of the STS gene associated with a deficiency of the enzyme steroid sulphatase, located in the distal part of the short arm of the X chromosome (Xp22.3-pter), close tothe pseudo-autosomal region. Depending on its size, it can present as an isolated entity or combined with a syndrome caused by neighbouring genes, thus associating itself with other monogenic diseases as well as other mental disorders.The most relevant findings from the literature review are the importance of the Xp22.3-pter region and the higher incidence of neurological disorders among males (attention deficit hyperactivity disorder, autism and X-linked mental retardation). The role and implication of these genes in the disease are discussed and the authors suggest a possiblecontribution of the gene PNPLA4, which was originally described as GS2 and codes for calcium-independent phospholipase A2 beta, involved in lipoprotein metabolism, as one of the causes of autism. Improvements have been observed followingtreatment with citicoline, thanks to the role this nootropic plays in the biosynthesis of structural phospholipids involved inthe formation and repair of the neuronal membrane (AU)


Asunto(s)
Humanos , Ictiosis Ligada al Cromosoma X/complicaciones , Epilepsia/complicaciones , Trastorno Autístico/complicaciones , Discapacidad Intelectual/complicaciones , Citidina Difosfato Colina/uso terapéutico
19.
Rev. colomb. anestesiol ; 30(2): 125-139, abr. 2002.
Artículo en Español | LILACS | ID: lil-322123

RESUMEN

El manejo de la fibrilación ventricular es la desfibrilación eléctrica, sin embargo, cuando hay refractariedad a esta, se indican medicamentos vasopresores y antiarritmicos intercados entre las descargas de desfibrilación. Este articulo hace una revisión actualizada de los cuatro medicamentos de primera linea que se indican de acuerdo a las guías 2000 de ACLS. La conclusión es que ninguno de los cuatro está considerado como opción terapéutica clase I o IIa, e incluso la epinefrina y la lidocaina caen dentro de la clase indeterminada (de acuerdo a la clasificación de la AHA). Hacen falta mas estudios que demuestren clínica y estadísticamente el aporte farmacológico óptimo para el manejo de esta arritmia fatal, que sigue siendo la primera causa de paro cardiaco en el adulto.


Asunto(s)
Amiodarona , Epinefrina , Fibrilación Ventricular/tratamiento farmacológico , Lidocaína , Vasopresinas
20.
An. pediatr. (2003, Ed. impr.) ; 63(5): 418-425, nov. 2005. ilus, tab
Artículo en Es | IBECS (España) | ID: ibc-043042

RESUMEN

Objetivo: Analizar la prevalencia del estreñimiento funcional asociado o no a encopresis, los factores implicados en su desarrollo y la respuesta al tratamiento. Pacientes y métodos: Estudio prospectivo de 62 niños en el que se incluyó cuestionario estándar (edad de comienzo, hábito higiénico, encopresis, complicaciones, encuesta dietética y factores psicológico-ambientales) y exploraciones clínica y antropométrica. Se definió estreñimiento funcional a la frecuencia de defecación inferior a 3 veces/semana con heces voluminosas o escíbalos, acompañado o no de 2 manchados/semana, sin causa orgánica. El tratamiento incluyó desmitificación, corrección de hábitos y fármacos (lubricantes y senósidos). Se reevaluaron periódicamente considerándose respuesta positiva si la defecación fue igual a 3 veces/semana, sin molestias y menos de 2 manchados/mes. Resultados y conclusiones: El estreñimiento funcional supuso el 13 % de las primeras consultas, siendo el 60 % niños y el 40 % niñas, con edad promedio de 6,1 años. Las principales manifestaciones fueron dolor a la defecación (60 %), rectorragia (42 %), episodios obstructivos (32 %) y fisuras y/o hemorroides (18 %); en 19 casos (31 %) se asoció encopresis. El 84 % estaba normonutrido y el 16 % tenían sobrepeso, siendo la alimentación deficitaria en fibra en más del 60 %. Requirieron desimpactación 16 niños con la combinación de senósidos (20-30 mg/dosis) y aceite de parafina, con total eficacia. El tratamiento de mantenimiento incluyó lubricantes (15-30 ml/día) y senósidos en la dosis mínima eficaz (media: 5-15 mg/día). La respuesta al mes fue positiva en el 32 %, a los 3-6 meses en el 71 % y a los 6-12 meses en el 85 % y se relacionó de forma estrecha con la modificación de los hábitos higiénico-dietéticos y el cambio en la actitud familiar


Objective To assess the prevalence of functional constipation (FC) with and without encopresis, the factors involved in its onset, and treatment response. Patients and methods A prospective study of 62 children was performed using a standard questionnaire (onset-age, regular toilet use, encopresis, complications, dietary habits and environmental and psychological factors) and physical and anthropometric assessment. FC was defined as a stool frequency of less than 3 bowel movements/week, with passage of large or scybalous stools, with or without 2 or more soiling episodes per week, without underlying disease. Treatment included demystification, behavioral modification and drugs (mineral oil and senna). Each child was periodically re-evaluated, and treatment was considered successful when the defecation rate was 3 or more bowel movements/week, discomfort was absent, and fecal soiling frequency was 2 or fewer episodes/ month. Results and conclusions FC accounted for 13 % of all first consultations (60 % boys, 40 % girls; mean age at diagnosis 6.1 years). The most frequent manifestations were painful defecation (60 %), rectorrhagia (42 %), obstructive episodes (34 %) and anal fissure or hemorrhoids (17 %); 19 patients (31 %) had encopresis. Nutritional assessment revealed that 84 % of the patients was well nourished and 16 % was overweight. Fiber intake was deficient in more than 60 %. Sixteen (26 %) patients underwent successful relief of impaction with senna (20-30 mg/dose) combined with mineral oil. Maintenance treatment included mineral oil (15-30 ml/day) and senna at the minimum effective dose (5-15 mg/day). Satisfactory results were achieved 1 month later in 32 % of the children, 3-6 months later in 71 %, and 6-12 months later in 85 %; successful response was closely related to regular toilet habits, dietary modification and a shift in the family's attitude


Asunto(s)
Lactante , Niño , Adolescente , Preescolar , Humanos , Catárticos/uso terapéutico , Estreñimiento/epidemiología , Estreñimiento/fisiopatología , Estreñimiento/terapia , Aceite Mineral/uso terapéutico , Extracto de Senna/uso terapéutico , Terapia Combinada , Dietoterapia/métodos , Encopresis/tratamiento farmacológico , Encopresis/epidemiología , Conducta Alimentaria , Dolor/epidemiología , Estudios Prospectivos , Resultado del Tratamiento
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