Association of white matter diffusion characteristics and cognitive deficits in temporal lobe epilepsy.

OBJECTIVE: The purpose of this study was to evaluate the relation between cognitive performance and white matter (WM) integrity in patients with temporal lobe epilepsy (TLE) with mesial temporal sclerosis (MTS). METHODS: We included 26 patients with TLE (10 right, 16 left onset) as well as 24 healthy controls matched for age, gender, and years of education. In addition to quantitative hippocampal volume and transverse relaxation (T2) evaluation, whole-brain WM was analyzed using fractional anisotropy (FA) maps, derived from the diffusion tensor model. Average FA values were obtained from 38 regions of interest (ROI) of the main WM fascicles using an atlas-based approach. All subjects underwent extensive coFignitive assessments, Wechsler Adult Intelligence Scale (WAIS-IV) and Wechsler Memory Scale (WMS-IV). Fractional anisotropy was correlated with neuropsychological scores, and group effects were evaluated. Finally, patients were clustered based on their cognitive performance to evaluate if clinical and structural variables relate to specific cognitive profiles. RESULTS: Patients had differential alterations in the integrity of the WM dependent on seizure laterality and presence of hippocampal sclerosis. Patients with TLE showed, on average, lower scores in most of the cognitive assessments. Correlations between cognition and WM followed specific trajectories per group with TLE, particularly in Left-TLE, in which we found a marked association between cognitive abilities and WM abnormalities. Cluster analysis of cognitive performance revealed three cognitive profiles, which were associated with the degree and spread of WM abnormalities. SIGNIFICANCE: White matter diffusion characteristics differ between patients, particularly in relation to seizure laterality and hippocampal damage. Moreover, WM abnormalities are associated with cognitive performance. The extent of WM alterations leads to disrupted cerebral intercommunication and therefore negatively affects cognition.

Hippocampal Volumetry as a Biomarker for Dementia in People with Low Education.

BACKGROUND/AIMS: To evaluate the relationship between hippocampal volume and cognitive decline in patients with dementia due to probable Alzheimer's disease (AD), amnestic mild cognitive impairment (aMCI) and education, and the possible relationship between cognitive reserve and education in this population. METHODS: From February 2013 to October 2015, 76 patients (25 men, 51 women) were classified according to the NIA-AA diagnostic criteria. We used two 3.0-tesla MRI scanners and performed manual hippocampal volumetry. RESULTS: Twenty-six patients were found to have AD, 20 aMCI and 30 had normal aging (NA). The mean normalized hippocampal volume in age-, sex- and education (years)-matched subjects was 2.38 ± 0.51 cm3 in AD (p < 0.001), 2.91 ± 0.78 cm3 in aMCI (p = 0.019) and 3.07 ± 0.76 cm3 in NA. CONCLUSION: Psychometric test (MMSE and MoCA) scores had a good to strong positive correlation with statistically significant differences in the entire population and healthy subjects but not among dementia patients and lower educational level groups. The patients with low education had greater hippocampal volumes, which is in line with the cognitive reserve theory; lower-educated individuals can tolerate less neuropathology and will thus show less atrophy at a similar level of cognitive performance than higher-educated subjects.

Diagnosis and Treatment Options of Spinal Metastases.

Cancer patients with spinal metastases are a diagnostic and treatment challenge for the clinician. This challenge must be addressed through a multidisciplinary, multimodal, and individualized management. The presence of tumor cells in bone metastases results in homeostatic disruption between bone formation and remodeling. Bone destruction is a late event in the formation of lytic bone metastasis, starting when tumor cells proliferate; this in turn activates osteoclasts, seen as trabecular destruction in imaging studies. There may be excessive bone destruction and increased bone formation, which produce blastic lesions. Bone scintigraphy is currently the most widely used diagnostic method and is considered as the reference test for the diagnosis of spinal bone metastasis. However, we believe that in the near future positron emission tomography associated to computed tomography with 18F-NaF, or magnetic resonance using diffusion-weighted whole-body imaging with background body signal suppression, will replace bone scintigraphy due to their improved diagnostic accuracy. These new diagnostic tools will help prevent bone metastasis complications such as: intractable pain; spinal cord or cauda equina compression; hypercalcemia; pathological fractures; and spinal instability. With regards to the treatment, it can be uni- or multimodal, depending on the type and number of bone metastases. Among the types of treatment available for bone metastasis are chemotherapy, radiotherapy, and invasive procedures. The prognosis of patient survival depends on the histopathology of the primary tumor, the presence of bone metastasis, and the presence of neurological deficits.

High incidence of lung cancer and malignant mesothelioma linked to erionite fibre exposure in a rural community in Central Mexico.

OBJECTIVE: To report the high incidence of lung cancer (LC) and malignant mesothelioma (MM) linked to environmental exposure to erionite fibres in a rural village of central Mexico. METHODS: This is a retrospective survey of clinical and mortality records from the years 2000-2012, accompanied by an environmental survey for nine Group-1 lung and pleura carcinogenic agents listed by the International Agency for Research on Cancer (IARC). RESULTS: Out of a total of 45 deaths between 2000 and 2012, 14 deaths correspond to different neoplasms of the lung, and at least four deaths to MM. The ages at diagnosis of MM were between 30 and 54 years. Annual age-standardised mortality rates per thousand due to LC and MM in the village (age >20 years) are 7.09 and 2.48 for males, and 4.75 and 1.05 for females, respectively. Erionite fibres were found in exposed rocks and soils, which can easily become airborne and be carried into streets and recreational areas near schools and homes. Other carcinogenic elements and minerals are found only in trace amounts, except for quartz dust and asbestos (chrysotile) cement sheeting, which are also present in the neighbouring villages. CONCLUSIONS: These results indicate that environmental exposure to erionite is the main cause of the high rates of MM mortality in the Village of Tierra Blanca, supporting previous similar reports for people exposed to erionite fibres in villages in Turkey.

Percutaneous vertebroplasty in vertebral metastases from breast cancer: interest in terms of pain relief and quality of life.

Percutaneous vertebroplasty (PV) is a therapeutic option in patients with vertebral metastases (VM). However its efficacy in pain relief, improvement in quality of life and safety in patients with VM from breast cancer has not been reported. We present a longitudinal retrospective study of 31 consecutively treated female patients with VM from breast cancer where 88 vertebrae were treated in 44 sessions of PV, in which osteolytic, osteoblastic and mixed lesions were recorded. The visual analogue pain scale (VAS) was used to evaluate pain pre-PV, at one, three, six and 12 months post-PV. The Eastern Cooperative Group (ECOG) performance status scale was used at the same time intervals to measure quality of life: 90.3% pain relief was identified with a VAS reduction from 5.7 ± 2.0 pre-PV to 2.9 ± 2.2 post-PV at one-month follow-up (p<0.001) and 0.6 ± 1.0 at 12-month follow-up (p<0.001). In our series 48.4% of patients were classified as having an ECOG grade 0 and 1 pre-PV, which increased to 80.8% at the 12-month follow-up. While 22.6% of the patients were classified at ECOG grades 3 and 4 pre-PV, this improved to 0% at 12 months follow-up. The morbidity rate for this procedure was 12.9% immediately and only 3.2% at 30 days post-PV with all complications being resolved medically or with CT-guided infiltration. PV is a safe procedure with a high efficacy in pain relief, and improvement of quality of life in patients with diverse types of VM from breast cancer.

Dural metastases as a presentation of a Brenner tumor.

We present a 56-year-old woman who came to our institution with a 6-month history of intracranial hypertension. Imaging studies showed diffuse dural enhancement, multiple lytic bone lesions and a tumor in the left ovary. A meningeal biopsy was performed; however, during this procedure the patient developed profuse dural hemorrhage and middle cerebral artery territory infarction and died a few hours later. The autopsy revealed a disseminated Brenner tumor that was infiltrating the intracranial dura mater. At this site neovascularization, vascular infiltration by malignant cells and a desmoplastic reaction were all observed, perhaps rendering the patient more susceptible to a dural hemorrhage during the biopsy. To our knowledge, this is the first report of a Brenner tumor presenting as dural metastases.

Posterior reversible encephalopathy syndrome as a complication of acute lupus activity.

OBJECTIVES: We aimed to describe the clinical and imaging characteristics; associated risk factors and neurological outcome of posterior reversible encephalopathy syndrome (PRES) in patients with systemic lupus erythematosus (SLE). METHODS: From October 2001 to January 2007, we identified patients with SLE and the criteria for PRES in our institution, which is a tertiary-care referral center for patients with SLE; the patients were evaluated at baseline and followed to determine the clinical outcome. RESULTS: We identified 22 episodes of PRES in 21 patients; 20 (95.2%) were women, mean age of onset was 24.9+/-8.6 years, all patients had high systemic activity (SLEDAI scores from 12 to 39). Acute hypertension was observed in 18 episodes (81.8%), and renal failure in 16 (72.7%); only 3 patients were on cyclophosphamide at the time of the onset of PRES. Persistent neurological deficit was observed in 2 cases; one patient died during the acute episode. CONCLUSIONS: PRES is a central nervous system syndrome that is observed in SLE patients. It was associated mainly to high systemic activity, acute hypertension, and renal failure. Although reversibility is common, residual neurological damage may be observed.

Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy.

Centronuclear myopathy (CNM) is a slowly progressive congenital myopathy characterized by abnormal centrally located nuclei in a large number of muscle fibres. Recently, different missense mutations affecting the middle domain of the dynamin 2 (DNM2) have been shown to cause autosomal dominant CNM. In order to better define the phenotype of DNM2-related CNM, we report here on the clinical and muscle imaging findings of 10 patients harbouring DNM2 mutations. DNM2-CNM is characterized by slowly progressive muscular weakness usually beginning in adolescence or early adulthood. In addition to bilateral ptosis, our data show that distal muscle weakness often exceeds proximal involvement. Furthermore, electrophysiological investigations frequently demonstrated signs of mild axonal peripheral nerve involvement, and electromyographical examination may show neuropathic changes in addition to the predominant myopathic changes. These features overlap with findings seen in the phenotype of DNM2-related autosomal dominant Charcot-Marie-Tooth disease type 2B. In all 10 DNM2-CNM patients, muscle computer tomography assessment showed a consistent pattern of muscular involvement and a characteristic temporal course with early and predominant distal muscle involvement, and later affection of the posterior thigh compartment and gluteus minimus muscles. The recognition of this specific imaging pattern of muscle involvement--distinct to the reported patterns in other congenital myopathies--may enable a better selection for direct genetic testing.

Percutaneous vertebroplasty for spinal metastases: complications.

PURPOSE: To retrospectively evaluate complications of percutaneous vertebroplasty (PV) performed with polymethylmethacrylate cement to treat pain in patients with metastases to the spine. MATERIALS AND METHODS: This study had institutional review board approval; patient informed consent for the review of records and images was not required. In 2 years, 117 patients (38 men [32.5%] and 79 women [67.5%]; mean age, 58.2 years) underwent 159 fluoroscopy-guided PV procedures to treat 304 vertebrae. Spinal metastases included osteolytic, osteoblastic, and mixed lesions. Complications were characterized as local or systemic. Evaluated data included immediate imaging findings (on radiographs and computed tomographic scans) and clinical findings at 30-day follow-up. Chi2 or Fisher exact testing was performed for univariate analysis of variables. RESULTS: The primary cancers were breast cancers (45.3%), lung cancers (14.5%), myeloma (7.7%), or other cancers (32.5%). Among the 423 cement leakages identified, 332 (78.5%) were vascular and 91 (21.5%) were nonvascular. Vascular leaks were classified as venous epidural leaks, paravertebral and foraminal plexus leaks, and leaks to the vena cava, while nonvascular leaks included puncture trajectory leaks, paravertebral soft tissue leaks, and diskal leaks. Patients with nonvascular leaks were asymptomatic. Eight (6.8%) patients experienced complications, and seven of these complications were symptomatic. Among these eight patients, six (5.1%) had local complications (puncture site hematoma in two patients and radicular pain [successfully treated with nonsteroidal anti-inflammatory drugs or corticosteroids] in four patients), and two (1.7%) had systemic complications (pulmonary embolism resulting from cement migration through the vena cava). One of the latter patients died. Univariate analyses revealed a significant association between cement migration through the vena cava and pulmonary embolism (P = .001) but not between foraminal venous leakage and radicular pain (P = .123). CONCLUSION: Despite numerous technical incidents (leaks), PV-induced complications were rare, leading to the hypothesis that systemic complications are a consequence of intravascular leakage while local complications are a consequence of cement-related irritation, compression and/or ischemia, and/or needle-induced trauma.

Brain magnetic resonance imaging findings in patients with mitochondrial cytopathies.

BACKGROUND: Mitochondrial cytopathies (MCs) are a heterogeneous group of clinical entities, some of which have classic phenotypes. Magnetic resonance imaging (MRI) has been reported to be helpful in the diagnosis of MC. OBJECTIVE: To correlate the most common brain MRI findings reported in patients with MC with the clinical findings in patients in different MC subgroups. DESIGN: Case series. SETTING: Patients with MCs seen at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, Mexico City, Mexico. PATIENTS: Twenty-one patients with MC with the following phenotypes: chronic progressive external ophthalmoplegia (n = 7), Kearns-Sayre syndrome (n = 7), mitochondrial neurogastrointestinal encephalopathy (n = 6), and myoclonic epilepsy with ragged red fiber myopathy (n = 1). RESULTS: Brain MRI abnormalities were found in 20 (95%) of 21 patients. The most frequent abnormalities were widespread white matter hyperintensity in 19 patients (90%), supratentorial cortical atrophy in 18 patients (86%), and cerebellar atrophy in 13 patients (62%). Widespread white matter hyperintensity (P<.001) and supratentorial cortical atrophy (P = .001) were each correlated significantly with MC. Subsequent subgroup analyses showed that the absence of basal ganglia hyperintensity was correlated with Kearns-Sayre syndrome (P < .001) and the presence of supratentorial cortical atrophy was correlated with mitochondrial neurogastrointestinal encephalopathy (P = .005). CONCLUSIONS: The presence of widespread white matter hyperintensity and/or supratentorial cortical atrophy in brain MRI may help to establish the diagnosis of MC. The radiologist has a role to play in the workup of MC by confirming the diagnosis and possibly distinguishing different subgroups of MC.

Unruptured intracranial aneurysms treated by three-dimensional coil embolization: evaluation of the postoperative aneurysm occlusion volume.

Our purpose was to evaluate the postoperative aneurysm occlusion volume and clinical results of treating unruptured intracranial aneurysm using three-dimensional (3D) coils. Over a 2-year period 62 aneurysms (39 with a neck < or =4 mm, 23 with a neck >4 mm) in 62 patients in five participating centres were treated. The procedure consisted, firstly, of framing the aneurysm with one or more spherical 3D coils, and secondly, of filling it with two-dimensional (2D) helical coils. Anatomical and clinical results were evaluated by univariate analysis. Multivariate analysis was used to identify independent predictors of these results. For neck sizes < or =4 and >4 mm, angiographic occlusion was complete in 31 (79%) and 16 (70%) aneurysms, respectively; the mean percentage of occlusion volume was 31.4% and 29.5%, respectively, and postoperative morbidity was 3% and 4%, respectively, with no significant differences between the two groups. There were no deaths. However, occlusion volume correlated with sac size (P = 0.037) and sac-to-neck ratio <1.5 (P = 0.073), except when three or more 3D coils per aneurysm were used (P = 0.516 and P = 0.308, respectively). Occlusion volume correlated with the number of 3D coils per aneurysm (P < 0.001) and was an independent predictor of angiographic complete occlusion (P = 0.002). The use of the largest number of 3D coils per aneurysm was safe and may improve the postoperative volume and angiographic occlusion of aneurysms with a neck >4 mm, provided the sac-to-neck ratio is > or =1.5.

[Cardiac involvement in Kearns-Sayre syndrome]. / Afección cardíaca en el síndrome de Kearns-Sayre.

The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity associated with this group of diseases, we evaluated cardiac structure and function in 5 patients with Kearns-Sayre syndrome and followed the clinical course of these patients for 5 years.

Afección cardíaca en el síndrome de Kearns-Sayre / Cardiac involvement in Kearns-Sayre syndrome

Las citopatías mitocondriales o enfermedades de las fosforilación oxidativa constituyen un diverso grupo de enfermedades cuya etiología subyace en trastornos estructurales, bioquímicos o genéticos de la mitocondria. Dado que una disfunción mitocondrial afecta a los órganos con mayores requerimientos energéticos, la afección cardíaca es frecuente en estos trastornos. Con el fin de determinar las características clínicas de la involucración cardíaca en el síndrome de Kearns-Sayre, entidad asociada a este grupo de enfermedades, hemos estudiado la estructura y la función cardíacas en una serie de 5 casos que, además, han sido seguidos durante 5 años

The mitochondrial cytopathies or oxidative-phosphorylation diseases are a diverse group of disorders that result from the structural, biochemical, or genetic derangement of mitochondria. Because mitochondrial dysfunction can affect the most highly energy-dependent organs, cardiac involvement is frequent in these diseases. To identify the clinical features of Kearns-Sayre syndrome, an entity associated with this group of diseases, we evaluated cardiac structure and function in 5 patients with Kearns-Sayre syndrome and followed the clinical course of these patients for 5 years

Mutaciones del genoma mitocondrial y su expresión clínica en cardiología / Mitochondrial genoma mutations and their clinical expression in cardiology

Uno de los mayores retos de la biología molecular es comprender los mecanismos por los cuales un defecto genético particular origina una determinada enfermedad. El DNA mitocondrial es más vulnerable a sufrir mutaciones que el DNA nuclear. Las mutaciones del DNA mitocondrial han sido asociadas a diversa gama de trastornos caracterizados por un fenotipo complejo y que actualmente se conocen como citopatías mitocondriales o enfermedades de fosforilación oxidativa. El objetivo de este trabajo es revisar los conceptos genéticos, clínicos y morfológicos más relevantes de la afección cardíaca en este heterogéneo pero fascinante grupo de enfermedades. La afección cardíaca en las citopatías mitocondriales es diferente en cada subgrupo de estos trastornos y mutaciones mitocondriales puntuales son capaces de originar trastornos cardiacos característicos.

Disfunción de marcapaso definitivo / Definitive pacemaker dysfunction

Han transcurrido poco más de 40 años desde el implante del primer marcapaso, hecho que ha tenido gran impacto y trascendencia en la vida de miles de pacientes. Este trabajo tiene como objetivo reportar un caso de disfunción de marcapaso definitivo con sonda-electrodo epicárdica, además hacemos una revisión de los aspectos más relevantes en cuanto a las causas y forma de realizar el diagnóstico de disfunción de marcapaso. Consideramos que los médicos en contacto con pacientes portadores de estos dispositivos deben estar preparados para diagnosticar y tratar adecuadamente a estos enfermos.

Kearns-Sayre syndromes and absolute indication for prophylactic implantation of definitive pacemaker?

El síndrome de Kearns-Sayre es una citopatía mitocondrial caracterizada por oftalmoplejia externa crónica progresiva, retinopatía pigmentaria y bloqueo auriculoventricular, siendo este último el determinante de la supervivencia de estos enfermos. Presentamos el caso de un hombre de 23 años con síndrome de Kearns-Sayre con trastornos de la conducción y prolapso de la válvula mitral. Se describen las características de este síndrome, así como los criterios para la implantación profiláctica de marcapaso definitivo

El otro genoma: El concepto clínico de las citopatías mitocondriales o enfermedades de la fosforilación oxidativa / The other genome: clinical spectrum of mitochondrial cytopathies or oxidative phosphorylation diseases

El estudio de las anormalidades del DNA mitocondrial y de su relaicón con trastornos a nivel de la fosforilación oxidativa y cadena de transporte de electrones ha permitido la descripción de una gama de síndromes denominados enfermedades o citopatías mitocondriales. El objetivo del presente trabajo es hacer una revisión de los aspectos clínicos más relevantes de este diverso grupo de enfermedades, y proponer un algoritmo diagnóstico, con la finalidad de que los médicos que atienden a estos pacientes puedan considerarlas dentro del espectro de diagnósticos diferenciales en los casos pertinentes