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INTRODUCTION: Headaches are a common reason for consultation with a prevalence of 30%. Few data exist for military personnel, including in situations of war operations. The main objective of this work was to measure the evolution of the impact of headache in such a context. MATERIALS AND METHODS: Two hundred and one personnel deployed in the Kaïa military field hospital in Afghanistan were recruited. A questionnaire designed to recognize headaches, supported by two quality of life scales (MIDAS and HIT-6) and a stress questionnaire were filled out before departure and upon return from missions. DISCUSSION: Sixty-three patients with headache were initially identified, of whom 52 remained symptomatic during the mission. The average total score of MIDAS before departure was 4 days and fell to 1.4 days upon return, with a mean measured change of 3.3 days. For HIT-6, the mean total score was 51.2 points initially and 51.9 points at the end of the mission with a mean change of-0.3 points. Nine patients without headache initially became symptomatic: MIDAS and HIT-6 were not affected. CONCLUSION: Thus, the impact of headache in the particular context of presence in a theater of operations was low: improved MIDAS score and the lack of influence on the HIT-6 score are underlined.
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Campaña Afgana 2001- , Cefalea/epidemiología , Personal Militar/estadística & datos numéricos , Adulto , Afganistán/epidemiología , Evaluación de la Discapacidad , Femenino , Cefalea/diagnóstico , Hospitales Militares , Humanos , Masculino , Prevalencia , Calidad de Vida , Encuestas y CuestionariosRESUMEN
INTRODUCTION: Bag-Valve-Device (BVD) is the most frequently used device for pre-oxygenation and ventilation during cardiopulmonary resuscitation (CPR). A minimal expired fraction of oxygen (FeO2) above 0.85 is recommended during pre-oxygenation while insufflated volume (VTi) should be reduced during manual ventilation. The objective was to compare the performances of different BVD in simulated conditions. METHODS: Nine BVD were evaluated during pre-oxygenation: spontaneous breathing patients were simulated on a test lung (mild and severe conditions). FeO2 was measured with and without positive end-expiratory pressure (PEEP). CO2 rebreathing was evaluated. Then, manual ventilation was performed by 36 caregivers (n = 36) from three hospitals on a specific manikin; same procedure was repeated by 3 caregivers (n = 3) on two human cadavers with three of the nine BVD: In non-CPR scenario and during mechanical CPR with Interrupted Chest Compressions strategy (30:2). RESULTS: Pre-oxygenation: FeO2 was lower than 0.85 for three BVD in severe condition and for two BVD in mild condition. FeO2 was higher than 0.85 in eight of nine BVD with an additional PEEP valve (PEEP 5 cmH2O). One BVD induced CO2 rebreathing. Manual ventilation: For non-CPR manual ventilation, mean VTi was within the predefined lung protective range (4-8 mL/kg PBW) for all BVD on the bench. For CPR manual ventilation, mean VTi was above the range for three BVD on the bench. Similar results were observed on cadavers. CONCLUSIONS: Several BVD did not reach the FeO2 required during pre-oxygenation. Manual ventilation was significantly less protective in three BVD. These observations are related to the different BVD working principles.
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Reanimación Cardiopulmonar , Humanos , Reanimación Cardiopulmonar/métodos , Dióxido de Carbono , Respiración Artificial/métodos , Pulmón , CadáverRESUMEN
INTRODUCTION: Non-ketosic hyperglycemia (NKH) may increase the likelihood of focal epileptic seizures, including commonly motor expression; rarely, they can have a visual expression. METHODS: The authors describe the observation of two men, who were hospitalized for visual manifestations; with episodes of homonymous hemianopia and hallucinations, revealing occipital seizure, secondary to NKH. Clinical data and characteristics of the investigations, including radiological imaging (MRI) and electrophysiological results of visual evoked potentials (VEP) are specified. RESULTS: MRI showed transitory low signal on T2 and FLAIR in occipital areas. Spectro-MR identified a moderate diminution of the NAA and lipids spikes, compatible with laminar necrosis. VEP revealed a transient decrease of the P100 amplitude. DISCUSSION: These two observations underline the existence of acute symptomatic seizures with a visual starting point which is often indicative of diabetes. Through these observations with a review of 28 patients from the literature, MR imaging characteristics and possible anomalies collected on VEP are discussed. Such seizures are resistant to anticonvulsant treatment and respond best to insulin and rehydration. CONCLUSION: The visual manifestations indicative of seizures with an occipital starting point in the context of NKH are possible enabling rapid initiation of effective symptomatic treatment with insulin.
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Diabetes Mellitus Tipo 2/complicaciones , Electroencefalografía , Epilepsias Parciales/etiología , Potenciales Evocados Visuales , Alucinaciones/etiología , Hemianopsia/etiología , Imagen por Resonancia Magnética , Lóbulo Occipital/fisiopatología , Convulsiones/etiología , Anticonvulsivantes/uso terapéutico , Glucemia/análisis , Diabetes Mellitus Tipo 2/sangre , Diabetes Mellitus Tipo 2/tratamiento farmacológico , Imagen de Difusión por Resonancia Magnética , Quimioterapia Combinada , Epilepsias Parciales/sangre , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/patología , Hemoglobina Glucada/análisis , Humanos , Insulina/uso terapéutico , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética , Masculino , Persona de Mediana Edad , Lóbulo Occipital/patología , Convulsiones/sangre , Convulsiones/diagnóstico , Convulsiones/tratamiento farmacológico , Convulsiones/patología , Campos VisualesRESUMEN
INTRODUCTION: Harlequin phenomenon is characterized by a strictly unilateral erythrosis of the face with flushing and hyperhydrosis, and controlaterally a pale anhydrotic aspect. This syndrome can occur alone or associated to other dysautonomic phenomena such as Horner syndrome, Adie syndrome or Ross syndrome. PATIENTS AND METHODS: We report three cases: two patients presented a Harlequin sign, associated with Horner syndrome for one and Ross syndrome for the second. The etiologic investigation was normal, allowing recognizing the idiopathic nature of the disorder. For the third patient, Harlequin syndrome was observed in a neoplastic context due to breast cancer, metastatic dissemination, and bone metastases involving the right side of the T2 body. DISCUSSION: We reviewed the literature: 108 cases have been described. This syndrome occurred alone in 48 patients and was associated with other dysautonomic syndromes such as Horner syndrome in 38 patients, Holmes Adie syndrome in six, and Ross syndrome in six; both Ross and Holmes Adie syndrome were associated five cases and associations were not reported in five patients. The pathophysiological mechanisms of this autonomic cranial neuropathy, the possible etiologies, and therapeutic management were discussed. CONCLUSION: Harlequin phenomenon with flushing and unilateral hyperhydrosis is rare, occurring alone or in combination with other autonomic syndromes of the face. Idiopathic in two-thirds of cases, Harlequin phenomenon does not require specific treatment; sympathectomy may be discussed in the severe cases with a significant social impact.
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Enfermedades del Sistema Nervioso Autónomo/complicaciones , Enfermedades del Sistema Nervioso Autónomo/diagnóstico , Rubor/complicaciones , Rubor/diagnóstico , Hipohidrosis/complicaciones , Hipohidrosis/diagnóstico , Disautonomías Primarias/complicaciones , Disautonomías Primarias/diagnóstico , Síndrome de Adie/complicaciones , Adulto , Cara/inervación , Femenino , Síndrome de Horner/complicaciones , Humanos , Masculino , Persona de Mediana Edad , SíndromeRESUMEN
INTRODUCTION: Muscle phosphofructokinase deficiency, the seventh member of the glycogen storage diseases family, is also called Tarui's disease (GSD VII). METHODS: We studied two patients in two unrelated families with Tarui's disease, analyzing clinical features, CK level, EMG, muscle biopsy findings and molecular genetics features. Metabolic muscle explorations (forearm ischemic exercise test [FIET]; bicycle ergometer exercise test [EE]; 31P-nuclear magnetic resonance spectroscopy of calf muscle [31P-NMR-S]) are performed as appropriate. RESULTS: Two patients, a 47-year-old man and a 38-year-old woman, complained of exercise-induced fatigue since childhood. The neurological examination was normal or showed light weakness. Laboratory studies showed increased CPK, serum uric acid and reticulocyte count without anemia. There was no increase in the blood lactate level during the FIET or the EE although there was a light increase in the respiratory exchange ratio during the EE. 31P-NMR-S revealed no intracellular acidification or accumulated intermediates such as phosphorylated monoesters (PME) known to be pathognomic for GSD VII. Two new mutations were identified. DISCUSSION: FIET and EE were non-contributive to diagnosis, but 31P-NMR provided a characteristic spectra of Tarui's disease, in agreement with phosphofructokinase activity level in erythrocytes. Muscle biopsy does not always provide useful information for diagnosis. In these two cases, genetic studies failed to establish a genotype-phenotype correlation. CONCLUSION: The search for phosphofructokinase deficiency should be continued throughout life in adults experiencing fatigability or weakness because of the severe disability for daily life activities caused by the late onset form.
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Ejercicio Físico/fisiología , Enfermedad del Almacenamiento de Glucógeno Tipo VII/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo VII/diagnóstico , Músculo Esquelético/metabolismo , Mialgia/etiología , Adulto , Prueba de Esfuerzo , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo VII/genética , Enfermedad del Almacenamiento de Glucógeno Tipo VII/metabolismo , Humanos , Espectroscopía de Resonancia Magnética/métodos , Masculino , Persona de Mediana Edad , Mialgia/diagnóstico , Mialgia/metabolismo , Isótopos de FósforoRESUMEN
OBJECTIVES: Hypokaliemic thyrotoxic periodic paralysis (TPP) is an uncommon complication of hyperthyroidism. Mostly described among Asian patients, it is rare in other ethnic groups, in particular in Caucasian people. CASE REPORT: We present the case of a Caucasian male admitted to our unit after several paretic episodes. Tachycardia, goiter and mild proptosis led to the diagnosis of Graves' disease. CONCLUSION: Rare in the Caucasian population, TPP involves dysfunction of the NA-K-ATPase pump. Beta-blockers should be associated with medical or surgical treatment of hyperthyroidism.
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Enfermedad de Graves/complicaciones , Enfermedad de Graves/diagnóstico , Parálisis Periódica Hipopotasémica/diagnóstico , Parálisis Periódica Hipopotasémica/etiología , Tirotoxicosis/complicaciones , Adulto , Diagnóstico Diferencial , Enfermedad de Graves/etnología , Humanos , Masculino , Tirotoxicosis/diagnóstico , Población BlancaRESUMEN
INTRODUCTION: Serious leukoencephalopathy can be related to heroin injection or inhalation. OBSERVATION: We report the first case of leukoencephalopathy observed three weeks after a 46-year-old man sniffed heroin. The clinical presentation included cognitive and behaviour disorders, pyramidal irritation and slight gait instability. Blood and cerebrospinal fluid analyse were normal. Brain magnetic resonance imaging showed diffuse, symmetrical supratentorial white matter lesions producing high intense signals on FLAIR and b1000-weighted sequences. Proton spectroscopy revealed an increased rate of cholin, in favour of active demyelinated lesions. Brain biopsy showed intramyelinic oedema with reactive gliosis. After two and a half years, moderate attentional fluctuations and difficulties in initiating activities persisted. Repeated MRI showed a reduction of the leukoencephalopathy. CONCLUSION: Heroin could be a cause more common than thought of leukoencephalopathy. The clinical and radiological expression and prognosis could be related to the mode of consummation (inhalation, intravenous injection, sniffing). This parameter may modulate severity and localization of brain lesions. More systematic use of MRI for patients with psychiatric symptoms after heroin intoxications could lead to a better evaluation of heroin-related neurotoxicity and potentially improve prevention.
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Heroína/efectos adversos , Leucoencefalopatías/inducido químicamente , Narcóticos/efectos adversos , Administración por Inhalación , Biopsia , Química Encefálica/efectos de los fármacos , Edema Encefálico/patología , Colina/metabolismo , Trastornos del Conocimiento/inducido químicamente , Trastornos del Conocimiento/psicología , Enfermedades Desmielinizantes/patología , Gliosis/patología , Heroína/administración & dosificación , Dependencia de Heroína/complicaciones , Dependencia de Heroína/patología , Dependencia de Heroína/psicología , Humanos , Leucoencefalopatías/patología , Leucoencefalopatías/psicología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Narcóticos/administración & dosificación , PronósticoRESUMEN
INTRODUCTION: The prevalence and the type of seizures associated with neurofibromatosis 1 (NF1) and 2 (NF2) are not adequately characterized. STATE OF THE ART: NF1 has a birth incidence of one in 2500, and NF2 one in 25000. Seizures are an occasional complication in NF1 patients and there is no data for NF2 patients. Central nervous system tumors are always suspected, since NF1 and NF2 are caused by mutations in tumor suppressor gene controlling cell proliferation and differentiation. PERSPECTIVES: The aim of this article is to provide a synthetic overview about epilepsy associated with NF1 and NF2 based on published studies. In NF1, the type of seizures and their response to therapy are reported, the heterogeneity of etiology is also discussed. For NF2 patients, no specific data are available; the current knowledge comes from series of NF2 patients for which seizures has revealed the disease or from isolated case reports of tumors associated with seizures. CONCLUSION: Cryptogenic epilepsy without anatomic defect is likely to be related to NF1, while seizures seem to be secondary to leptomeningeal tumors (meningioma, meningioangiomatosis) in NF2 patients.
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Neurofibromatosis/complicaciones , Convulsiones/etiología , Humanos , Neoplasias Meníngeas/complicaciones , Neoplasias Meníngeas/diagnóstico por imagen , Neurofibromatosis/diagnóstico por imagen , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico por imagen , Neurofibromatosis 1/patología , Neurofibromatosis 2/complicaciones , Neurofibromatosis 2/diagnóstico por imagen , Neurofibromatosis 2/patología , Radiografía , Factores de Riesgo , Convulsiones/diagnósticoRESUMEN
INTRODUCTION: Brain abscesses occur in 5 to 13 % of patients with pulmonary arteriovenous malformation (PAVM), more often present in Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT). CASE REPORT: A 51-year-old man with a history of transient Parinaud syndrome at 37 years complained of headache for 2 months before acute onset of a left cerebellar syndrome without fever. CT-scan and MRI of the head revealed a heterogeneous left cerebellar lesion. A brain abscess was drained and all signs resolved. CT-scan of the chest revealed a left lingual PAVM; occlusion was incomplete after coil embolization. He had no feature of HHT and no mutation in ENG and ACVRL1 genes. A second embolization was performed 5 months later, but the malformation was not occluded at 6 months. DISCUSSION: We report the seventh case of PAVM complicated by a cerebellar abscess. The right to left shunt in PAVM results in hypoxemia, secondary polycythemia and paradoxical embolization of infective organisms bypassing the pulmonary filter. CONCLUSION: Combining different MRI techniques (in particular diffusion and proton MR spectroscopy) provides invaluable data for the diagnosis of brain abscess. Careful search for PAVM must be undertaken, particularly in adults with cryptogenic abscess, to avoid further abscess formation or stroke.
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Malformaciones Arteriovenosas/diagnóstico , Absceso Encefálico/etiología , Enfermedades Cerebelosas/etiología , Arteria Pulmonar/anomalías , Venas Pulmonares/anomalías , Antibacterianos/uso terapéutico , Malformaciones Arteriovenosas/complicaciones , Malformaciones Arteriovenosas/terapia , Absceso Encefálico/diagnóstico , Absceso Encefálico/tratamiento farmacológico , Absceso Encefálico/cirugía , Enfermedades Cerebelosas/diagnóstico , Enfermedades Cerebelosas/cirugía , Craneotomía , Drenaje , Embolia Paradójica/etiología , Embolización Terapéutica , Infecciones por Fusobacterium/diagnóstico , Infecciones por Fusobacterium/tratamiento farmacológico , Infecciones por Fusobacterium/etiología , Infecciones por Fusobacterium/cirugía , Fusobacterium necrophorum , Infecciones por Haemophilus/diagnóstico , Infecciones por Haemophilus/tratamiento farmacológico , Infecciones por Haemophilus/etiología , Infecciones por Haemophilus/cirugía , Humanos , Hipoxia/etiología , Hipertensión Intracraneal/etiología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Policitemia/etiología , Infecciones Estreptocócicas/diagnóstico , Infecciones Estreptocócicas/tratamiento farmacológico , Infecciones Estreptocócicas/etiología , Infecciones Estreptocócicas/cirugía , Streptococcus intermediusRESUMEN
INTRODUCTION: An apparent increased risk for developing Amyotrophic Lateral Sclerosis (ALS), a multifactorial neurodegenerative disease, is considered to exist in the military population. PATIENTS AND METHODS: ALS military and veteran patients were retrospectively recruited in April 2008 by searching medical data (Hippocrate) and repayment data (Erasme) of the French National Military Health Care Fund (Caisse nationale militaire de sécurité sociale, CNMSS) from de January 1991 to December 2007. RESULTS: We report a series of 73 patients, 69 male and four female, average age of 52.5 years (range 27 to 72 years) with a peak of patients in the 50-59 year age class. The branch of military service was Army (n=26 patients), Air force (n=14), Navy (n=10) and State Police Force (n=22). The incidence among male active duty military personnel was stable from 2002 to 2007; it was less than the general population (1.7/100,000 per year in 2007), but higher in the 40-44 and 50-54 year age classes (1.90 and 5.07/100,000 per year in 2007 respectively). Duration of active duty was on average 31 years. CONCLUSION: The retrospective nature of the data and the incomplete population with loss of retired military personnel without CNMSS affiliation are limitations of our study. Another means of collecting all cases of ALS among French military personnel and veterans would be to conduct a search in the 17 ALS centers in France with analysis by occupational activity for entire career.
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Esclerosis Amiotrófica Lateral/epidemiología , Personal Militar/estadística & datos numéricos , Veteranos/estadística & datos numéricos , Adulto , Factores de Edad , Anciano , Esclerosis Amiotrófica Lateral/tratamiento farmacológico , Esclerosis Amiotrófica Lateral/economía , Femenino , Francia , Humanos , Incidencia , Reembolso de Seguro de Salud/estadística & datos numéricos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Riluzol/uso terapéutico , Riesgo , Adulto JovenRESUMEN
INTRODUCTION: Whether post-traumatic focal fixed dystonia has a physiological or psychologically-mediated mechanism is discussed. CASE REPORT: We report the case of an active 22-year-old soldier with shoulder-fixed dystonia, eight months after a fall with minor right-acromioclavicular sprain. CONCLUSION: Psychiatric examination and search of complex regional pain syndrome, radicular or accessory nerve damage, and genetic predisposition to dystonia are necessary for selecting a difficult treatment in these patients.
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Distonía/diagnóstico , Trastornos por Estrés Postraumático/diagnóstico , Accidentes por Caídas , Distonía/patología , Humanos , Masculino , Músculo Esquelético/patología , Dolor/etiología , Articulación del Hombro , Síndrome , Adulto JovenRESUMEN
This is a new case of Susac syndrome in a 27-year-old woman with polymorphic neurological disorders, her brain MRI showed multifocal hyperintense signals on T2-weighted images with possible effects on the corpus callosum. However, visualization of an occlusion in the retinal arterial branch of the right eye and hypoacusia on the right side allowed confirmation of the diagnosis. In this case report, we describe the imaging aspects of Susac syndrome and demonstrate that brain MRI allows the syndrome to be diagnosed at an early stage.
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Encéfalo/patología , Pérdida Auditiva/patología , Imagen por Resonancia Magnética/métodos , Oclusión de la Arteria Retiniana/patología , Síndrome de Susac/patología , Trastornos de la Visión/patología , Adulto , Angiografía , Cuerpo Calloso/patología , Femenino , Lateralidad Funcional , Pérdida Auditiva/diagnóstico , Humanos , Arteria Retiniana/patología , Oclusión de la Arteria Retiniana/diagnóstico , Síndrome de Susac/diagnóstico , Trastornos de la Visión/diagnósticoRESUMEN
INTRODUCTION: X-linked myotubular myopathy (XLMTM), a recessive disorder, is caused by mutations affecting the myotubulatin (MTM1) gene located on the X chromosome. Most of the affected males die in the early postnatal period whereas female carriers are usually asymptomatic. CASE REPORTS: We report a family in which two females (45 and 27 years old) in two different generations, presented unilateral weakness which had worsened since adolescence, and one 48-year-old woman presented minimal symptoms. In agreement with the computed tomography and magnetic resonance imaging findings, the EMG was compatible with myopathy. Serum creatine kinase was elevated in the second patient. The histological study showed centronuclear myopathy aspects, more severe in the second patient. Both presented c.1420C>T, p.Arg474X in exon 13 of the MTM1 gene, whereas the third patients with less pronounced manifestation, had a skewed pattern of X chromosome inactivation. DISCUSSION: Symptomatic female carriers of XLMTM can present with asymmetric malformations, which must be distinguished from an autosomal-dominant centronuclear myopathy. CONCLUSION: Unilateral presentation of weakness cannot rule out a diagnosis of myopathy. Detection of symptomatic female carriers of an X linked recessive disease, with a severe presentation in males, is important for genetic counselling.
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Cromosomas Humanos X , Miopatías Estructurales Congénitas/genética , Adolescente , Adulto , Encéfalo/patología , Portador Sano , Progresión de la Enfermedad , Femenino , Lateralidad Funcional , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Músculo Esquelético/patología , Miopatías Estructurales Congénitas/patología , Linaje , Trastornos de los Cromosomas Sexuales/genéticaAsunto(s)
Neoplasias de Cabeza y Cuello/complicaciones , Linfoma Folicular/complicaciones , Linfoma de Células B Grandes Difuso/complicaciones , Dolor de Cuello/etiología , Neuralgia/etiología , Anticuerpos Monoclonales de Origen Murino/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Vértebras Cervicales/patología , Ciclofosfamida/administración & dosificación , Doxorrubicina/administración & dosificación , Femenino , Neoplasias de Cabeza y Cuello/diagnóstico , Neoplasias de Cabeza y Cuello/tratamiento farmacológico , Humanos , Hipoestesia/etiología , Linfoma Folicular/diagnóstico , Linfoma Folicular/tratamiento farmacológico , Linfoma de Células B Grandes Difuso/diagnóstico , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Imagen por Resonancia Magnética , Metotrexato/administración & dosificación , Persona de Mediana Edad , Invasividad Neoplásica , Tomografía de Emisión de Positrones , Prednisolona/administración & dosificación , Rituximab , Compresión de la Médula Espinal/etiología , Vincristina/administración & dosificaciónRESUMEN
INTRODUCTION: A syndrome of headache with neurologic deficits and cerebrospinal fluid (CSF) lymphocytosis is uncommon and clinicians should be aware of this entity. EXEGESIS: We report a 28-year-old man without previous medical history of migraine, who presented with severe headache and temporary focal, neurological deficits. Lumbar puncture revealed aseptic lymphocytic pleiocytosis. The patient completely recovered within one month. This condition was suggestive of a transient syndrome of headache with neurologic deficits and lymphocytosis. The main characteristics and the pathophysiology of this uncommon disorder, generally with a benign course, are discussed. CONCLUSION: Such syndrome of headache, neurologic deficits and CSF lymphocytosis should be included in the differential diagnosis of meningo-encephalitis. The constant benign course of this affection should be emphasized.
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Cefalea/etiología , Linfocitosis/etiología , Meningitis Meningocócica/diagnóstico , Adulto , Líquido Cefalorraquídeo/fisiología , Diagnóstico Diferencial , Humanos , Masculino , Enfermedades del Sistema Nervioso/etiologíaRESUMEN
BACKGROUND: The appearance of malignant peripheral nerve sheath tumours (MPNST) marks a critical stage in the course of neurofibromatosis type 1 (NF1). Since the diagnostic criteria are fairly non-specific, histological examination alone can confirm malignancy. We assessed the value of 18 FDG positron emission tomoscintigraphy (PET scan) in screening for such malignant tumours. PATIENTS AND METHODS: Between October 2000 and August 2006, all of our patients with NF1 and suspected MPNST underwent PET scan. Inclusion criteria consisted of clinical signs (increased tumour size or induration, pain) and/or laboratory values. Analysis of PET scan images, based upon determination of tumour/liver binding ratio with a cut-off point of 1.5 times hepatic binding, was used to classify lesions as non-suspect or pathological. In the case of suspect lesions, histological analysis was performed. For non-suspect lesions, patients either underwent monitoring or excision of the lesion where necessary and technically feasible. RESULTS: Thirty-eight patients with 49 tumours were included in the study. In 8 patients, PET scan showed suspect lesions (12 tumours), and histological analysis of these tumours revealed 6 MPNST. In 30 patients (37 tumours) PET scan showed non-suspect binding, and no malignant tumours were demonstrated either on histological examination or after mean follow-up of 33.5 months. PET scan thus demonstrated a sensitivity and negative predictive value of 100%, specificity of 86%, and a positive predictive value of 50%. The ratios of positive and negative probability were respectively 7.14 and 0. DISCUSSION: Our study, to our knowledge the most extensive yet performed, demonstrates the value of PET scan in detecting MPNST, particularly based on its 100% negative predictive value. To date, other than biopsy, no examinations allow diagnosis with any certainty. The literature reports 2 studies analysing the value of PET scan. The first involved 18 NF1 patients with 23 plexiform neurofibromas: of 7 tumours with hyperbinding, 5 were MPNST. The second study concerned 5 NF1 patients with a total of 15 tumours: 7 tumours showed hyperbinding, of which 6 were MPNST. Using the same evaluation criteria, our study yielded comparable results. The negative predictive value of 100% provides a strong argument in favour of a benign tumour. CONCLUSION: Our study confirms the value of PET scan in the detection of NF1 even though false positives require medical-surgical confirmation before any potentially detrimental therapeutic decisions may be made.
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Fluorodesoxiglucosa F18 , Neurofibromatosis 1/complicaciones , Tomografía de Emisión de Positrones , Radiofármacos , Sarcoma/diagnóstico por imagen , Adolescente , Adulto , Anciano , Transformación Celular Neoplásica , Niño , Árboles de Decisión , Femenino , Humanos , Masculino , Persona de Mediana Edad , Sarcoma/etiologíaRESUMEN
Natalizumab is a monoclonal antibody indicated for the treatment of patients with relapsing-remitting multiple sclerosis. Its use is prohibited during pregnancy. However, natalizumab exposures throughout the gestation period or during the third trimester, because of intense disease activity, are possible and begin to be reported. There are enough reassuring arguments against a teratogenicity, through pregnancy registries; but deleterious effects in the monitoring of newborn, are not well known. A disorder of hematopoiesis is possible with anemia, thrombocytopenia or pancytopenia, as discussed by the author through an observation. These hematological disorders seem to be asymptomatic; they resolve spontaneously and require a simple biological and clinical monitoring of the newborn.
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Factores Inmunológicos/efectos adversos , Intercambio Materno-Fetal , Esclerosis Múltiple Recurrente-Remitente/tratamiento farmacológico , Natalizumab/efectos adversos , Pancitopenia/inducido químicamente , Femenino , Humanos , Recién Nacido , Embarazo , Adulto JovenRESUMEN
INTRODUCTION: The optimal diagnosis and therapeutic managements of spinal dural arteriovenous fistulae, a rare disease, is discussed. MATERIAL AND METHODS: We report a series of 10 patients seen in a 7-year period, treated by embolization. RESULTS: There were 6 males and 4 females, with an average age of 58.4 years (range: 31 to 74 years). Diagnosis was made 2 days to 5 years (mean 15.3 months) after symptom onset with a high rate of incomplete or atypical clinical patterns (prolonged isolated sensory disorder, lumbo-sciatalgia, claudication, monoplegia), or sudden-onset deficit. In all cases, spinal MRI showed an intramedullary high-intensity signal on T2-weighted images but enlarged intradural vessels in only 70p.cent of cases. Angiography showed in all cases an arteriovenous fistula at the upper dorsal level (T1 to T7, 5 cases), lower dorsal (T8-T12, in 3 cases) and lumbar levels (2 cases). The fistula was successfully obliterated after initial embolization in 3 cases, but two (2 cases) or 3 procedures (2 cases) were sometimes required. The endovascular therapy failed in 3 cases. CONCLUSION: In this series, the fistula was successfully obliterated in 70p.cent of patients. In the literature, fistula of 96.8p.cent to 97.9p.cent of patients were obliterated by surgery, which is a more invasive treatment. Embolization could be used as the first-line therapy, but incomplete obliteration requires rapid surgery. While the success of embolization is demonstrated, MRI and angiography must still be performed 6 months later.
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Fístula Arteriovenosa/patología , Duramadre/patología , Bulbo Raquídeo/patología , Enfermedades de la Columna Vertebral/patología , Adulto , Anciano , Fístula Arteriovenosa/diagnóstico , Angiografía Cerebral , Electroencefalografía , Femenino , Humanos , Angiografía por Resonancia Magnética , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Pronóstico , Enfermedades de la Columna Vertebral/diagnósticoRESUMEN
INTRODUCTION: A typically distal and symmetrical, slowly progressive sensorimotor demyelinating neuropathy is caused by monoclonal IgM against myelin-associated glycoprotein (MAG) and SGPG, SGLPG glycolipids in the context of a benign IgM paraproteinemia. We studied a patient with a neuropathy that fulfilled the diagnostic criteria for CIDP in whom IgM kappa anti-MAG/SGPG/SGLPG were detected. OBSERVATION: The patient was a 57-year-old man who had developed a slowly progressive distal sensorimotor neuropathy, involving the lower then upper limbs, with cranial nerves palsies (oro-pharyngo-laryngo territory). ENMG showed a demyelinating neuropathy with a disproportionate slowing of conduction in distal segments of motor and axonal features in the lower limbs. The first routine laboratory analysis revealed negative or normal findings. Several serum protein electrophoreses were normal. The third cerebrospinal fluid examination demonstrated a moderate and late rise in CSF protein level with no cells. Monoclonal IgM-kappa against MAG/SGPG/SGLPG, was detected; anti-MAG antibody titre in the serum was 20 059 BTU (N<1000). A small IgM-kappa paraprotein was identified by immunofixation. Electron microscopy failed to show nerve fibers with widening of outer lamellae of the myelin. There is no clinical improvement after different treatments, immunoglobulins IV, cortisteroids, plasma exchange, rituximab. CONCLUSION: It is not known whether this neuropathy is an atypical form of PNMAG or an CIDP associated with anti-MAG. When ENMG show a disproportionate slowing of conduction in distal segments of motor nerves, one should screen the serum with immunofixation to identify small monoclonal components. If IgM-MGUS is present, search should be undertaken for anti-MAG/SGPG/SGLPG antibodies. Diagnosis enables optimal treatment using, in severe cases, expensive current strategies with immunoglobulins IV, plasma exchange, and corticosteroids, or, in the event of no response, rituximab before resorting to more toxic drugs like cyclophosphamide.
Asunto(s)
Anticuerpos Antiidiotipos/inmunología , Anticuerpos Monoclonales/inmunología , Globósidos/inmunología , Inmunoglobulina M/inmunología , Glicoproteína Asociada a Mielina/inmunología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/inmunología , Polirradiculoneuropatía Crónica Inflamatoria Desmielinizante/fisiopatología , Sulfoglicoesfingolípidos/inmunología , Progresión de la Enfermedad , Humanos , Masculino , Persona de Mediana Edad , Conducción Nerviosa/fisiología , Nervios Periféricos/fisiopatologíaRESUMEN
BACKGROUND: In 2015, the European Society of cardiology published guidelines on the pre-hospital and early hospital management of acute cardiac failure (ACF), which included: - use of intravenous vasodilators (nitrates) when systolic blood pressure is>110mmHg; - non-invasive ventilation if oxygen saturation is<90% and/or respiratory rate is>25/min despite nasal oxygen; - using a reduced dose of intravenous furosemide (20-40mg or equivalent of the oral morning dose if already on chronic diuretic therapy) and; - early performance of echocardiography. We sought to compare the gap between these recommendations and clinical practices in French emergency departments (EDs). METHODS: We undertook a retrospective evaluation of clinical practices in 834 consecutive patients with ACF admitted in 2013 to the EDs of 16 French hospitals. Data, including patient characteristics and practices were collected from the medical records. RESULTS: Patients' mean±standard deviation age was 82±10 years and 49% were men. Clinical practices in relation to the guideline recommendations are shown in the Table 1. CONCLUSIONS: These initial data which precede publication of the current guidelines, show that use of nitrates, non-invasive ventilation, reduced diuretic dose and early echocardiography were relatively infrequent at the first point of medical care for patients presenting with ACF. These findings indicate the need for a sizable shift in practice in order to meet the new guideline recommendations. We will conduct a repeat evaluation in 2016, after implementation of a programme aimed to improve practices at these sites.