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2.
Eur J Obstet Gynecol Reprod Biol ; 258: 198-207, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-33450711

RESUMEN

An accurate prognostic method for preterm birth (PTB) could avoid unnecessary treatment(s) with potentially negative effects. The objective was to explore the prognostic accuracy of commercially available bedside cervicovaginal biomarker tests in combination with cervical length (CL) compared to CL measurement alone and/or a biomarker test alone, for PTB within 7 days after testing symptomatic women at 22-34 weeks. The MEDLINE, Cochrane, Embase and Web of Science databases were searched from inception to August 28th, 2019. Seven hundred and eight articles were identified and screened using Rayyan. Studies reporting on the predictive accuracy of combined tests compared to CL or biomarker alone for the prediction of PTB within 7 days of testing in symptomatic women with intact membranes were included. A piloted data extraction form was used. Direct comparisons of the prognostic accuracy of the combination test with CL measurement or a biomarker alone were done, as well as comparisons of prognostic accuracy of the included combination tests (indirect comparisons). Twelve articles were included (seven on fetal fibronectin, four on phosphorylated insulin-like growth factor binding protein-1, one comparing both). A variety of CL cut-offs was reported. The results could not demonstrate superiority of a combination method compared to single methods. Due to data scarcity and quality, the superiority of either predictive test for PTB, either combination or single, cannot be demonstrated with this systematic review. We recommend further research to compare available biomarkers.


Asunto(s)
Trabajo de Parto Prematuro , Nacimiento Prematuro , Biomarcadores , Medición de Longitud Cervical , Cuello del Útero/diagnóstico por imagen , Femenino , Fibronectinas , Humanos , Recién Nacido , Valor Predictivo de las Pruebas , Embarazo , Nacimiento Prematuro/diagnóstico
3.
Facts Views Vis Obgyn ; 9(3): 133-140, 2017 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29479398

RESUMEN

BACKGROUND: Our aim was to evaluate the treatment effect of gestational diabetes mellitus (GDM) according to the Hyperglycemia and Adverse Pregnancy Outcome group (HAPO) screening. RESULTS: The prevalence of GDM, using HAPO 5 was 23.8%. Of these, 72.8% were treated. Comparison of outcomes between treated and untreated patients showed no differences. The prevalence of GDM according to HAPO 4 criteria was 16.9%. In the untreated group, there were more cases of (pre)eclampsia (P=0.038), more admissions to neonatal care department (P=0.036), pregnancy duration was shorter (P=0.05), and Apgar score at five minutes was significantly lower (P=0.019). The outcomes didn't differ in the MAGG (midly aberrant glycemic group). CONCLUSIONS: Using HAPO 5 criteria in population-based screening doubled the prevalence of GDM. There were no differences between untreated and treated HAPO 5 and MAGG patients, while in the HAPO 4 group there might be a trend of therapy effectiveness.

5.
Eur J Neurol ; 11(2): 83-9, 2004 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-14748767

RESUMEN

An overview of possible treatment options for oculomotor disorders that prevent clear vision is given. Downbeat nystagmus, upbeat nystagmus, seesaw nystagmus, periodic alternating nystagmus, acquired pendular nystagmus, and saccadic oscillations such as opsoclonus/ocular flutter are discussed. In addition, superior oblique myokymia and vestibular paroxysmia are reviewed. All treatment recommendations available in the literature are classified as class C only. In general, only some of the patients benefit from the treatment.


Asunto(s)
Comités Consultivos , Nistagmo Patológico/tratamiento farmacológico , Animales , Anticonvulsivantes/uso terapéutico , Europa (Continente) , Agonistas del GABA/uso terapéutico , Humanos , Nistagmo Patológico/fisiopatología , Enfermedades del Nervio Oculomotor/tratamiento farmacológico , Enfermedades del Nervio Oculomotor/fisiopatología
6.
Neuromuscul Disord ; 13(2): 133-42, 2003 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-12565911

RESUMEN

Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of mitochondrial DNA. We previously reported missense mutations in POLG, the gene encoding the mitochondrial DNA polymerase gamma in two nuclear families compatible with autosomal recessive progressive external ophthalmoplegia. Here, we report a novel POLG missense mutation (R627W) in a sporadic patient and we provide genetic support that all these POLG mutations are actually causal and recessive. The novel patient presented with sensory ataxic neuropathy and has the clinical triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO). This is the first finding of a genetic cause of Sensory Ataxic Neuropathy, Dysarthria and Ophthalmoparesis and it implies that this disorder may actually be a variant of autosomal recessive progressive external ophthalmoplegia. Sensory neuropathy is the initial feature in Belgian compound heterozygote autosomal recessive progressive external ophthalmoplegia patients, all carrying the POLG A467T mutation, which occurs at a frequency of 0.6% in the Belgian population.


Asunto(s)
Ataxia/genética , ADN Polimerasa Dirigida por ADN/genética , Mutación Missense , Oftalmoplejía Externa Progresiva Crónica/genética , Adolescente , Adulto , Anciano , Arginina/genética , Ataxia/etiología , ADN Polimerasa gamma , ADN Polimerasa Dirigida por ADN/ultraestructura , Complejo IV de Transporte de Electrones/metabolismo , Femenino , Genes Recesivos , Heterocigoto , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Microscopía Electrónica , Persona de Mediana Edad , Datos de Secuencia Molecular , Músculo Esquelético/química , Músculo Esquelético/patología , Músculo Esquelético/ultraestructura , Oftalmoplejía Externa Progresiva Crónica/complicaciones , Linaje , Succinato Deshidrogenasa/metabolismo , Triptófano/genética
7.
Acta Neurol Belg ; 100(4): 242-5, 2000 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11233680

RESUMEN

We report an unusual case of probable progressive multifocal leukoencephalopathy (PML), who initially presented with a right-sided movement disorder, including upper limb dystonia, tremor, and dyspraxia, reminiscent of corticobasal degeneration. In the further course, the patient developed disorientation, confusion, and bradyphrenia. The appearance of white matter MRI lesions as well as a positive PCR test result for JC-virus in the cerebrospinal fluid finally led to the correct diagnosis.


Asunto(s)
Leucoencefalopatía Multifocal Progresiva/diagnóstico , Trastornos del Movimiento/etiología , Anciano , Antineoplásicos Alquilantes/uso terapéutico , Apraxias/etiología , Clorambucilo/uso terapéutico , Trastornos del Conocimiento/etiología , Terapia Combinada , Distonía/etiología , Resultado Fatal , Lóbulo Frontal/patología , Humanos , Huésped Inmunocomprometido , Inmunoglobulinas Intravenosas/uso terapéutico , Virus JC/aislamiento & purificación , Leucemia Linfocítica Crónica de Células B/complicaciones , Leucemia Linfocítica Crónica de Células B/tratamiento farmacológico , Leucemia Linfocítica Crónica de Células B/inmunología , Leucemia Linfocítica Crónica de Células B/terapia , Leucoencefalopatía Multifocal Progresiva/complicaciones , Leucoencefalopatía Multifocal Progresiva/virología , Imagen por Resonancia Magnética , Masculino , Lóbulo Parietal/patología , Temblor/etiología
11.
Eur J Neurol ; 4(1): 85-9, 1997 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-24283827

RESUMEN

We present the case of a migrainous girl who suffered an episode of migraine-like headache associated with ophthalmoplegia. MRI showed reversible enhancement and thickening of the cisternal portion of the oculomotor nerve. This finding suggests a mechanism different from diabetic ischaemic neuropathy, as similar MRI abnormalities were rarely reported in diabetic ophthalmoplegia. The MRI findings are most in favour of an inflammatory cause.

12.
J Neurol Sci ; 142(1-2): 36-8, 1996 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-8902717

RESUMEN

Laboratory confirmation of a clinical suspicion of malignant hyperthermia (MH) susceptibility by the standard in vitro contracture test remains inconclusive in patients reacting only to caffeine or halothane (called 'Equivocal') or in patients with concomitant neuromuscular disease. The detection of point mutations in the ryanodine receptor gene potentially provides additional information in these cases. The diagnostic value of the Gly341 Arg mutation in a patient reacting in vitro only to caffeine was reported previously by Quane et al. (1994). The present report describes a patient with motor neuron disease carrying the Gly341 Arg mutation, expanding the diagnostic value of this mutation to the group of patients with neuromuscular diseases.


Asunto(s)
Hipertermia Maligna/complicaciones , Hipertermia Maligna/genética , Enfermedad de la Neurona Motora/complicaciones , Enfermedad de la Neurona Motora/genética , Adolescente , Canales de Calcio/genética , Proteínas de Unión a Calmodulina/genética , Femenino , Humanos , Masculino , Hipertermia Maligna/diagnóstico , Enfermedad de la Neurona Motora/diagnóstico , Proteínas Musculares/genética , Linaje , Mutación Puntual/genética , Canal Liberador de Calcio Receptor de Rianodina
14.
Neurology ; 47(2): 376-82, 1996 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-8757007

RESUMEN

Cortical vein thrombosis without sinus involvement is rarely diagnosed, although it may commonly be overlooked. We report four cases of cerebral venous thrombosis limited to the cortical veins. The diagnosis was made on surgical intervention in one patient and by angiography in three patients. Together with a survey of the published cases, the clinical and neuroimaging patterns of our patients allow delineation of several features suggestive of cortical venous stroke. Focal or generalized seizures followed by hemiparesis, aphasia, hemianopia, or other focal neurologic dysfunction in the absence of signs of increased intracranial pressure should suggest this possibility. Neuroimaging (CT, MRI) shows an ischemic lesion that does not follow the boundary of arterial territories and often has a hemorrhagic component, without signs of venous sinus thrombosis. Conventional angiography demonstrates no arterial occlusion but may show cortical vein thrombosis corresponding to the infarct, although these may also be nonspecific findings. The role of MR angiography, which is well-established in sinus thrombosis, remains to be assessed in patients with brain ischemia due to isolated cortical vein occlusion.


Asunto(s)
Corteza Cerebral/irrigación sanguínea , Venas Cerebrales , Embolia y Trombosis Intracraneal/patología , Adulto , Angiografía Cerebral , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/patología , Venas Cerebrales/diagnóstico por imagen , Venas Cerebrales/patología , Femenino , Humanos , Embolia y Trombosis Intracraneal/diagnóstico por imagen , Imagen por Resonancia Magnética
15.
J Neurol ; 243(6): 461-4, 1996 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-8803819

RESUMEN

We report four patients with internuclear ophthalmoplegia and torsional nystagmus, ipsiversive to the side of the medial longitudinal fasciculus (MLF) lesion. The MLF lesion could be responsible for an inactivation of the ipsilateral interstitial nucleus of Cajal inducing a contraversive slow phase. The presence of a corrective ipsiversive quick phase implicates an intact rostral interstitial nucleus of the MLF.


Asunto(s)
Nistagmo Patológico/etiología , Oftalmoplejía/complicaciones , Anciano , Ojo/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Nistagmo Patológico/diagnóstico , Oftalmoplejía/diagnóstico
16.
Acta Neurol Belg ; 96(2): 108-16, 1996 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-8711983

RESUMEN

The authors describe the clinical and biological data of seven patients with anti-Hu antibodies. Six of them displayed a small cell lung carcinoma (SCLC), but no cancer was detected in the 7th patient in spite of an extensive workup. The clinical heterogeneity of the anti-Hu syndrome is emphasized. The major symptoms were linked to a severe sensory neuropathy in three cases, to cerebellitis in two cases, to dysautonomia in one case, and to gastro-intestinal pseudo-obstruction in one case. One patient also displayed EMG abnormalities characteristic of the Lambert-Eaton myasthenic syndrome. Two patients developed opsoclonus or ocular flutter associated with severe confusion in the late stage of their disease. In four patients, the neurological signs and symptoms preceded the discovery of the SCLC, and in two cases the initial detection of anti-Hu antibodies prompted the successful search for this tumor. Immunopathological events injuring the peripheral and central nervous system are briefly discussed.


Asunto(s)
Enfermedades Autoinmunes/inmunología , Carcinoma de Células Pequeñas/inmunología , Neoplasias Pulmonares/inmunología , Proteínas del Tejido Nervioso/inmunología , Proteínas de Unión al ARN/inmunología , Anciano , Autoanticuerpos/aislamiento & purificación , Enfermedades del Sistema Nervioso Central/inmunología , Proteínas ELAV , Femenino , Humanos , Seudoobstrucción Intestinal/inmunología , Masculino , Persona de Mediana Edad , Síndrome
17.
J Neurol Neurosurg Psychiatry ; 60(1): 68-71, 1996 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-8558155

RESUMEN

OBJECTIVES: To review the clinical features, electronystagmography findings, the possible mechanism, and a possible therapeutic approach to benign paroxysmal positional vertigo (BPPV). METHODS: Sixty-three cases of BPPV of the horizontal canal type have been reviewed. It is characterised by horizontal nystagmus and an intense vertigo, provoked by rotation of the head in a supine patient. The horizontal nystagmus beats towards the ground on both sides, becomes more pronounced when lying on the pathological side, and then the nystagmus often changes direction. RESULTS: Forty-eight patients underwent electronystagmography. On the pathological side, the first phase nystagmus had a mean latency of three seconds and a mean duration of 31.6 seconds. Nystagmus inversion occurred in 36 patients after a nystagmus free interval. The mean second phase nystagmus duration lasted 33.4 seconds. On the healthy side, the nystagmus had a mean latency of 3.4 seconds and a mean duration of 39.5 seconds. Fatigue was seen in six patients. Simultaneous involvement of the posterior canal was present in 16 patients. A liberatory manoeuvre was successful in six patients. CONCLUSIONS: The liberatory manoeuvre should be tried in patients with horizontal canal vertigo. It should not be performed in patients with severe cervical arthrosis, vertebrobasilar insufficiency, or when the patient has neck pain during the manoeuvre.


Asunto(s)
Nistagmo Patológico/complicaciones , Postura , Vértigo , Adulto , Anciano , Anciano de 80 o más Años , Electronistagmografía , Endolinfa , Femenino , Humanos , Masculino , Persona de Mediana Edad , Membrana Otolítica/fisiopatología , Tiempo de Reacción , Estudios Retrospectivos , Rotación , Canales Semicirculares/fisiopatología , Factores de Tiempo , Vértigo/diagnóstico , Vértigo/etiología , Vértigo/fisiopatología , Vértigo/terapia
18.
Acta Neurol Belg ; 95(3): 142-6, 1995.
Artículo en Inglés | MEDLINE | ID: mdl-7484051

RESUMEN

Primary Sjogren's syndrome is a systemic autoimmune disorder whose main characteristics are dryness of the eyes and mouth, caused by lymphocytic infiltration of the exocrine glands. Patients may also show signs of extraglandular involvement of lung, liver, kidney and vessel walls, as well as of central and peripheral nervous system, muscles and joints. We present a review of the literature on the involvement of the central nervous system in primary Sjögren's syndrome, which may mimic many other neurologic disorders, especially multiple sclerosis. Features that may help in distinguishing these two entities are presented.


Asunto(s)
Enfermedades del Sistema Nervioso Central/complicaciones , Síndrome de Sjögren/complicaciones , Diagnóstico Diferencial , Antígenos HLA-DR/inmunología , Humanos , Inmunoglobulina G/aislamiento & purificación , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico , Síndrome de Sjögren/diagnóstico , Síndrome de Sjögren/inmunología , Tomografía Computarizada por Rayos X
19.
Brain ; 117 ( Pt 4): 789-803, 1994 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-7922466

RESUMEN

See-saw nystagmus is an uncommon but highly characteristic eye movement disorder comprising intorsion and elevation of one eye, with synchronous extorsion and depression of the other. It generally has a pendular waveform and is due to a midline, extrinsic, suprasellar mass lesion compressing or invading the brainstem bilaterally at the meso-diencephalic junction. This report deals with the clinical and MRI findings in three patients (and binocular three-dimensional quantitative oculographic findings in one patient) with a jerk waveform see-saw nystagmus due in each case to a unilateral meso-diencephalic lesion. In each patient the torsional component of the nystagmus fast phases rotated the upper poles of the eyes toward the side of the lesion. Jerk see-saw nystagmus can be clinically indistinguishable from pendular see-saw nystagmus and from the torsional-vertical nystagmus which occurs with medullary lesions. We propose that jerk see-saw nystagmus is due to unilateral inactivation of the torsional eye-velocity integrator, thought to be in the interstitial nucleus of Cajal, with sparing of the torsional fast-phase generator, thought to be in the adjacent rostral interstitial nucleus of the medial longitudinal fasciculus.


Asunto(s)
Encefalopatías/complicaciones , Encefalopatías/fisiopatología , Diencéfalo/fisiopatología , Mesencéfalo/fisiopatología , Nistagmo Patológico/etiología , Nistagmo Patológico/fisiopatología , Adulto , Encefalopatías/diagnóstico , Femenino , Lateralidad Funcional , Cabeza , Humanos , Masculino , Persona de Mediana Edad , Movimiento , Nistagmo Patológico/diagnóstico , Puente/fisiopatología , Postura , Tegmento Mesencefálico/fisiopatología , Anomalía Torsional
20.
Ann Neurol ; 35(6): 704-8, 1994 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-8210227

RESUMEN

Hereditary neuropathy with liability to pressure palsies (NHPP) is an autosomal dominant disease of peripheral nerves, characterized by recurrent focal neuropathies often with an underlying asymptomatic polyneuropathy. We report the clinical, electrophysiological, and histopathological findings in three families with HNPP and confirm the presence of a deletion on chromosome 17p11.2, including all the markers known to be duplicated in Charcot-Marie-Tooth disease type 1A. This deletion appears to be the underlying molecular deficit in this disease and provides additional evidence for the importance of this locus for peripheral nerve function.


Asunto(s)
Enfermedad de Charcot-Marie-Tooth/genética , Deleción Cromosómica , Cromosomas Humanos Par 17 , Neuropatía Hereditaria Motora y Sensorial/genética , Adolescente , Adulto , ADN/análisis , Electrofisiología/métodos , Femenino , Marcadores Genéticos , Neuropatía Hereditaria Motora y Sensorial/patología , Neuropatía Hereditaria Motora y Sensorial/fisiopatología , Humanos , Masculino , Neuronas Motoras/fisiología , Conducción Nerviosa , Linaje , Nervio Peroneo/patología , Nervio Peroneo/fisiopatología , Nervio Peroneo/ultraestructura , Nervio Sural/patología , Nervio Sural/ultraestructura , Nervio Cubital/fisiopatología
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