Manifestaciones neurológicas como presentación inicial de la enfermedad relacionada con IgG4 / Neurological symptoms as the initial manifestation of IgG4-related disease

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[The clinical spectrum of progressive multifocal leukoencephalopathy: differences and similarities in patients with and without human immunodeficiency virus]. / Espectro clinico de la leucoencefalopatia multifocal progresiva: diferencias y similitudes en pacientes con y sin virus de la inmunodeficiencia humana.

AIM: To analyse the clinical findings, complementary examinations and prognosis of patients with progressive multifocal leukoencephalopathy (PML) treated in our institution, comparing populations with and without associated human immunodeficiency virus (HIV). PATIENTS AND METHODS: A retrospective study of the medical records of patients with probable or definite PML was carried out. Clinical variables, complementary studies (cerebrospinal fluid, magnetic resonance imaging of the brain) and prognostic variables were analysed. Non-parametric statistical tests were used to compare HIV-positive and HIV non-positive populations. RESULTS: Fourteen patients with definite and one probable diagnosis of PML were included. Nine patients had PML associated with HIV; five had other immunosuppressive conditions (two, chronic lymphatic leukaemia; one, multiple sclerosis; one, neuromyelitis optica; and one, neurosarcoidosis); and one, no obvious immunosuppressive condition. The population with HIV presented heterogeneous dirty-appearing white matter lesions more frequently (77.7% versus 16.67%; p = 0.0247) in the cerebral MRI. No other significant differences were identified in the remaining variables analysed. CONCLUSION: HIV/AIDS is the pathology most frequently associated with PML. With the use of immunomodulator drugs its appearance is reported in a variety of other diseases. Heterogeneous dirty-appearing white matter lesions were significantly more common in HIV patients.

TITLE: Espectro clinico de la leucoencefalopatia multifocal progresiva: diferencias y similitudes en pacientes con y sin virus de la inmunodeficiencia humana.Objetivo. Analizar los hallazgos clinicos, examenes complementarios y pronostico de los pacientes con leucoencefalopatia multifocal progresiva (LMP) atendidos en nuestra institucion, comparando las poblaciones con y sin virus de la inmunodeficiencia humana (VIH) asociado. Pacientes y metodos. Estudio retrospectivo de historias clinicas de pacientes con LMP probable o definitiva. Se analizaron variables clinicas, estudios complementarios (liquido cefalorraquideo, resonancia magnetica cerebral) y variables pronosticas. Mediante pruebas estadisticas no parametricas se realizo la comparacion entre las poblaciones con y sin VIH. Resultados. Se incluyo a 14 pacientes con diagnostico de LMP definitiva y uno probable. Nueve pacientes presentaron LMP asociada a VIH; cinco, otras condiciones de inmunoafectacion (dos, leucemia linfatica cronica; uno, esclerosis multiple; uno, neuromielitis optica; y uno, neurosarcoidosis); y uno, sin condicion inmunosupresora evidente. La poblacion con VIH presento con mayor frecuencia lesiones de la sustancia blanca heterogeneas de aspecto «sucio¼ (77,7% frente a 16,67%; p = 0,0247) en la resonancia magnetica cerebral. No se identificaron otras diferencias significativas en las restantes variables analizadas. Conclusion. El VIH/sida es la patologia mas frecuente asociada a LMP. Con el uso de farmacos inmunomoduladores se describe su aparicion en una variedad de otras enfermedades. Las lesiones de la sustancia blanca heterogeneas de aspecto «sucio¼ fueron significativamente mas frecuentes en pacientes con VIH.

Autosomal dominant cerebellar ataxias: a systematic review of clinical features.

BACKGROUND AND PURPOSE: To assess, through systematic review, distinctive or common clinical signs of autosomal dominant cerebellar ataxias (ADCAs), also referred to as spinocerebellar ataxias (SCAs) in genetic nomenclature. METHODS: This was a structured search of electronic databases up to September 2012 conducted by two independent reviewers. Publications containing proportions or descriptions of ADCA clinical features written in several languages were selected. Gray literature was included and a back-search was conducted of retrieved publication reference lists. Initial selection was based on title and abstract screening, followed by full-text reading of potentially relevant publications. Clinical findings and demographic data from genetically confirmed patients were extracted. Data were analyzed using the chi-squared test and controlled for alpha-error inflation by applying the Holms step-down procedure. RESULTS: In all, 1062 publications reviewing 12 141 patients (52% male) from 30 SCAs were analyzed. Mean age at onset was 35 ± 11 years. Onset symptoms in 3945 patients revealed gait ataxia as the most frequent sign (68%), whereas overall non-ataxia symptom frequency was 50%. Some ADCAs often presented non-ataxia symptoms at onset, such as SCA7 (visual impairment), SCA14 (myoclonus) and SCA17 (parkinsonism). Therefore a categorization into two groups was established: pure ataxia and mainly non-ataxia forms. During overall disease course, dysarthria (90%) and saccadic eye movement alterations (69%) were the most prevalent non-ataxia findings. Some ADCAs were clinically restricted to cerebellar dysfunction, whilst others presented additional features. CONCLUSIONS: Autosomal dominant cerebellar ataxias encompass a broad spectrum of clinical features with high prevalence of non-ataxia symptoms. Certain features distinguish different genetic subtypes. A new algorithm for ADCA classification at disease onset is proposed.

Gastric cancer: The role of diffusion weighted imaging in the preoperative staging.

PURPOSE: Evaluate the role of diffusion-weighted-imaging (DWI) in the diagnosis and staging of gastric carcinoma. MATERIALS AND METHODS: A total of 31 patients with gastric adenocarcinoma, which underwent preoperative staging with 3Tesla Magnetic Resonance Imaging (MRI), were enrolled. Two radiologists evaluated the tumor staging in DWI. Results were compared to postsurgical pathologic findings. RESULTS: The T factor accuracy of conventional MRI and DWI was 73% and 80% respectively; while the N staging accuracy of conventional MRI and DWI was 80% and 93%, respectively. CONCLUSION: DWI and apparent diffusion coefficient (ADC) values showed to be useful in preoperative staging of gastric cancer.

F-18 FDG PET/CT in the assessment of patients with unexplained CEA rise after surgical curative resection for colorectal cancer.

PURPOSE: We evaluated the role of quantitative assessment by maximum standardized uptake value (SUVmax) on F-18 fluorodeoxyglucose [F-18]FDG positron emission tomography/computed tomography (PET/CT) in stratifying colorectal cancer (CRC) patients with unexplained carcinoembryonic antigen (CEA) rise after surgical curative resection. MATERIAL AND METHODS: Forty asymptomatic patients (mean age, 64 ± 12 years) with previous CRC and current serum CEA levels >5 ng/ml underwent [F-18] FDG PET/CT 13 ± 3 months after complete surgical resection. The SUVmax was registered on anastomosis and peri-anastomotic tissue lesions, if present. The patients were followed for 24 ± 9 months thereafter. Re-intervention, evidence of newly discovered distant metastases, and death were recognized as main events and constituted surrogate end points. The receiver-operator-curve (ROC) analysis was performed to estimate the optimal SUVmax cut-off to predict patients at high risk of main events. PET/CT results were then related to disease outcome (overall survival; OS). RESULTS: The mean SUVmax at the anastomotic site was 6.2 ± 3 (range 2.6-15). At multivariate logistic regression analysis, the anastomotic SUVmax remained as the only significant contributor to the prediction of the events (p = 0.004; OR 1.97). The ROC analysis recognized that the optimal threshold of SUVmax to differentiate patients was 5.7. A worse OS was observed in patients presenting with a SUVmax greater than 5.7 as compared to those having lesser (median survival: 16 vs. 31 months; p = 0.002). CONCLUSIONS: The quantitative assessment by SUVmax on [F-18]FDG PET/CT may be helpful in patients presenting with unexplained CEA rise after curative resection of CRC, by identifying those at risk of main events.

Particulate and gaseous emissions during fluidized bed combustion of semi-dried sewage sludge: effect of bed ash accumulation on NOx formation.

Combustion of two semi-dried sewage sludges in a 110 mm has been characterized in terms of particulate and gaseous emissions. Sludges differed in that they had been conditioned - at the flocculation stage of wastewater treatment - either with Ca-based inorganics or with polyelectrolytes. Combustion was efficient for both sewage sludges under all the operating conditions tested. Significant differences have instead been observed between the two types of sewage sludges as regards particulate and macro-pollutant gaseous emissions (SO2, NOx). NOx formation is significantly influenced by ash accumulation inside the bed only when sewage sludge conditioned with Ca-based inorganics is fired. The time-resolved profiles of NOx concentration and the mass flow rate of the elutriated fines have been worked out to evaluate the fuel nitrogen yield to NOx as a function of ash accumulated inside the bed divided by the air mass feed rate. Experimental results have been compared with data present in literature.

3 Tesla magnetic resonance spectroscopy: cerebral gliomas vs. metastatic brain tumors. Our experience and review of the literature.

The aim of the present study is to report about the value of magnetic resonance spectroscopy (MRS) in differentiating brain metastases, primary high-grade gliomas (HGG) and low-grade gliomas (LGG). MRI (magnetic resonance imaging) and MRS were performed in 60 patients with histologically verified brain tumors: 32 patients with HGG (28 glioblastomas multiforme [GBM] and 4 anaplastic astrocytomas), 14 patients with LGG (9 astrocytomas and 5 oligodendrogliomas) and 14 patients with metastatic brain tumors. The Cho/Cr (choline-containing compounds/creatine-phosphocreatine complex), Cho/NAA (N-acetyl aspartate) and NAA/Cr ratios were assessed from spectral maps in the tumoral core and peritumoral edema. The differences in the metabolite ratios between LGG, HGG and metastases were analyzed statistically. Lipids/lactate contents were also analyzed. Significant differences were noted in the tumoral and peritumoral Cho/Cr, Cho/NAA and NAA/Cr ratios between LGG, HGG and metastases. Lipids and lactate content revealed to be useful for discriminating gliomas and metastases. The results of this study demonstrate that MRS can differentiate LGG, HGG and metastases, therefore diagnosis could be allowed even in those patients who cannot undergo biopsy.

The clinical impact of a cardiologic follow-up in breast cancer survivors: an observational study.

Anthracycline-containing chemotherapy (A-CHT) can induce late cardiotoxicity adding a considerable burden to cardiovascular risk. Irradiation of left breast cancer has also been associated to an increased risk of cardiovascular disease. The aim of this observational study is to prove the usefulness of an accurate cardiovascular evaluation in left breast cancer survivors treated with radiotherapy (RT) and A-CHT. Patients with left breast cancer, on follow-up after treatment with A-CHT plus RT in an adjuvant setting, were eligible for this observational study. Patients underwent cardiovascular assessment with myocardial perfusion imaging. Thirty patients were enrolled in the study: mean age at diagnosis 55.8 years; stage: I/III; Er and/or pgR status: positive in 24/30 pts; 3 patients in pre-menopausal status. Twenty-two patients (73.3 percent) had normal perfusion imaging, 1 patient (3.3 percent) had a fixed myocardial perfusion defect, 7 patients (23.3 percent) had reversible myocardial perfusion defects; 1 patient (3 percent) with normal perfusion scan showed depressed rest and stress LVEF. Only 1 patient had a large defect and underwent coronary angiography and percutaneous coronary intervention. Five patients with small defect showed normal coronary arteries at Multislice Computed Tomography. Cardiovascular followup may reveal signs of A-CHT or RT-induced cardiotoxicity. A stress test combined with MPI- and GATED-derived data of ventricular systolic performance after stress can give information on the coronary reserve and the contractile reserve and allow early appropriate treatment.

Decision-making in Parkinson's disease patients with and without pathological gambling.

BACKGROUND AND PURPOSE: Pathological gambling (PG) in Parkinson's disease (PD) is a frequent impulse control disorder associated mainly with dopamine replacement therapy. As impairments in decision-making were described independently in PG and PD, the objective of this study was to assess decision-making processes in PD patients with and without PG. METHODS: Seven PD patients with PG and 13 age, sex, education and disease severity matched PD patients without gambling behavior were enrolled in the study. All patients were assessed with a comprehensive neuropsychiatric and cognitive evaluation, including tasks used to assess decision-making abilities under ambiguous or risky situations, like the Iowa Gambling Task (IGT), the Game of Dice Task and the Investment Task. RESULTS: Compared to PD patients without gambling behavior, those with PG obtained poorer scores in the IGT and in a rating scale of social behavior, but not in other decision-making and cognitive tasks. CONCLUSIONS: Low performance in decision-making under ambiguity and abnormal social behavior distinguished PD patients with PG from those without this disorder. Dopamine replacement therapy may induce dysfunction of the ventromedial prefrontal cortex and amygdala-ventral striatum system, thus increasing the risk for developing PG.

Epidemiological and ethical aspects of multiplex autoantibody testing.

Arrays are one of the technologies able to detect autoantibodies by measuring simultaneously many thousands of markers from a unique biological sample. The main purpose of a diagnostic test is making an early and accurate diagnosis. From a statistical point of view, multiple testing increases the probability of false positive and false negative results. Some correction methods are available to account for this problem for instance family-wise error rate or false discovery rate. From an ethical point of view, the decision to accept or decline a test not requested has to be made autonomously. Some people may seek clarification about tests and implications of their choices. A scarcity of proven measures to reduce mortality has to be considered too. Reasons may also include avoidance of psychological harm or anxiety. Moreover, protection of confidentiality and privacy has to be respected. In conclusion, the fact that testing is optional and that surveillance advice can be offered on the basis of risk alone without a test should be discussed in the consultation. The implication of a positive test result should be discussed to make a decision about the degree to which early treatment of the condition is better than late (or no) treatment.

[Multifocal motor neuropathy. Immediate response to intravenous immunoglobulin]. / Neuropatía motora multifocal. Respuesta inmediata a la inmunoglobulina endovenosa.

Multifocal motor neuropathy, a rare insidious immune-mediated disorder, features muscular weakness and atrophy, as well as areflexia, due to nerve conduction block and is often associated with the presence of anti-GM1 antibody. We report a patient with a nine-year history of progressive upper limb weakness, misdiagnosed as amyotrophic lateral sclerosis, who responded within hours to intravenous immunoglobulin treatment with full recovery of muscle strength. This case highlights the need to search for conduction block in patients with lower motor neuron involvement.

Focal stiff-person syndrome.

Stiff-person syndrome (SPS) is a disorder of motor function characterized by rigidity of axial musculature and fluctuating painful spasms, which are often induced by startle or emotional stimuli. Neurophysiological studies have demonstrated the presence of continuous motor unit activity in muscle at rest, with abnormally enhanced extereoceptive reflexes. Although criteria for the diagnosis of SPS were proposed, several variants of this syndrome have been described before. In this communication, we report the case of a patient with a focal form of SPS. A 39-year-old woman developed progressive instability in her gait, spasms and stiffness restricted to both legs. The electromyographic examination showed continuous motor unit activity of the affected muscles at rest. Moreover, high anti-GAD antibodies titers were found in CSF and serum. Clinical symptoms, electrophysiological and immunological profiles suggest a focal form of SPS. Clinical and immunological findings indicate that SPS is a heterogeneous disease, suggesting the need to redefine its diagnostic criteria. Definition of the range of clinical expression and immunological profiles could be important for the clinical management of these patients.

Síndrome de la persona rígida focal / Focal stiff-person syndrome

El síndrome de la persona rígida es una alteración de la función motora caracterizado por rigidez y espasmos dolorosos fluctuantes de la musculatura axial. Estudios neurofisiológicos han demostrado la presencia de actividad continua de la unidad motora en el músculo en reposo, con reflejos exteroceptivos aumentados. Aunque se han propuesto criterios diagnósticos para este síndrome, también se han reconocido diferentes variantes clínicas. En esta comunicación presentamos el caso de una paciente con una forma focal del síndrome de la persona rígida. La paciente, una mujer de 39 años de edad, desarrolló progresivamente inestabilidad en la marcha, espasmos y rigidez de miembros inferiores. El examen electromiográfico de los músculos afectados reveló actividad continua de las unidades motoras durante el reposo. Se detectaron títulos altos de anticuerpos anti-GAD tanto en suero como en el líquido cefalorraquídeo. Los síntomas clínicos, estudios electrofisiológicos y el perfil inmunológico fueron coincidentes con el diagnóstico de una forma localizada del síndrome de persona rígida. Estudios clínicos e inmunológicos indican que este síndrome es una enfermedad heterogénea sugiriendo la necesidad de redefinir los criterios diagnósticos de esta entidad. Una definición más clara del cuadro clínico, así como del perfil inmunológico de esta afección, podría resultar útil para un mejor abordaje clínico y terapéutico de estos pacientes (AU)

Long-term infusional systems: complications in cancer patients.

Long-term central vein catheters have found clinical application in different fields of medicine and particularly in oncology. In fact, the continuous infusion of some drugs has become the standard treatment in a wide variety of cancers, but central vein catheters are not without risks. The authors report their experience with central vein catheters. From January 1,1998, to December 31, 1999, 98 central vein catheters were placed in neoplastic patients. Seventy-seven (78.6%) Groshong and 16 (16.3%) Port-a-cath catheters were used. The central vein catheters were placed under local anesthesia. Before placement of the central vein catheters, the patients were checked by chest X-ray and neck ultrasonography. The procedure was performed under fluoroscopic control. The central vein catheters were flushed periodically with normal saline solution and sodium heparin. Sterile transparent adhesive dressings were used to occlude the operative site. The median follow-up of patients was 9 catheter months (range, 1-24 months). There were a few early and late clinically evident complications. The early complications were dislodgement in 5 cases (5.1%). The late complications were: fibrin sleeve in 1 case (1.1%), thrombosis in 2 cases (2.1%) and skin infection in 4 cases (4.1%). The low prevalence of major complications related to implants and management of these supports an increased use in oncology.

Neuropatía motora multifocal. Respuesta inmediata a la inmunoglobulina endovenosa. / [Multifocal motor neuropathy. Immediate response to intravenous immunoglobulin]

Multifocal motor neuropathy, a rare insidious immune-mediated disorder, features muscular weakness and atrophy, as well as areflexia, due to nerve conduction block and is often associated with the presence of anti-GM1 antibody. We report a patient with a nine-year history of progressive upper limb weakness, misdiagnosed as amyotrophic lateral sclerosis, who responded within hours to intravenous immunoglobulin treatment with full recovery of muscle strength. This case highlights the need to search for conduction block in patients with lower motor neuron involvement.

Mismatch between electrophysiologically defined and ventriculography based theoretical targets for posteroventral pallidotomy in Parkinson's disease.

OBJECTIVES: Over the past few years many reports have shown that posteroventral pallidotomy is an effective method for treating advanced cases of Parkinson's disease. The main differences with earlier descriptions were the use of standardised evaluation with new high resolution MRI studies and of single cell microrecording which can electrophysiologically define the sensorimotor portion of the internal globus pallidus (GPi). The present study was performed on a consecutive series of 40 patients with Parkinson's disease who underwent posteroventral pallidotomy to determine localisation discrepancies between the ventriculography based theoretical and the electrophysiologically defined target for posteroventral pallidotomy. METHODS: The tentative location of the posteroventral GPi portion was defined according to the proportional Talairach system. Single cell recording was performed in all patients. The definitive target was chosen according to the feasibility of recording single cells with GPi cell features, including the presence of motor drive and correct identification of the internal capsule and of the optic tract by activity recording and microstimulation. RESULTS: In all 40 patients the electrophysiologically defined sensorimotor portion of the GPi was lesioned, with significantly improved cardinal Parkinson's disease symptoms as well as levodopa induced dyskinesias, without damage to the internal capsule or optic tract. Significant differences between the localisation of the ventriculography based theoretical versus electrophysiological target were found in depth (p<0.0008) and posteriority (p<0.04). No significant differences were found in laterality between both approaches. Difference ranges were 8 mm for laterality, 6.5 mm for depth, and 10 mm for posteriority. CONCLUSIONS: Electrophysiologically defined lesion of GPi for posteroventral pallidotomy, shown to be effective for treating Parkinson's disease, is located at a significantly different site from the ventriculography based theoretical target.