Phenotypic characteristics of temporal lobe epilepsy: the impact of hippocampal sclerosis.

OBJECTIVES: Whether mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS) is a condition with a unique biological background that can be delineated from other TLE, is unresolved. Here we performed a comparative analysis of two TLE patient cohorts - one cohort with HS and one without HS - in order to identify phenotypic characteristics specifically associated with MTLE-HS. METHODS: Epidemiological data and clinical and diagnostic features were compared between patients with MTLE-HS and TLE patients without HS. When appropriate, data were compared with healthy controls. RESULTS: Fifty-six (26%) patients were diagnosed with MTLE-HS and 162 (74%) with other TLE. Age at epilepsy onset was lower in patients with MTLE-HS (P = 0.003) than in TLE patients without HS. Incidence of simple partial seizures was higher in the MTLE-HS group (P = 0.006), as were complex partial seizures (P = 0.001), ictal psychiatric symptoms (P = 0.015), and autonomic symptoms (P < 0.001). Interictal psychiatric symptoms, including depression, were less frequent in MTLE-HS (P = 0.043). MTLE-HS patients had a higher incidence of childhood febrile seizures (FS; P = 0.043) than TLE patients without HS. In contrast, the former group had the lower frequency of first-grade family members with childhood FS (P = 0.019). CONCLUSIONS: We identified phenotypic characteristics that distinguish MTLE-HS from other types of TLE. These characteristics will be important in diagnostics, treatment, and determination of prognosis, and provide a basis for future phenotype-genotype studies.

Resultados obstétricos asociados al incremento del índice de masa corporal durante el embarazo en el Hospital Clínico de la Universidad de Chile / No disponible

Introducción: Estudios previos muestran que el incremento en la categoría del índice de masa corporal (IMC) se asocia a un mayor riesgo de complicaciones obstétricas. Objetivo: Investigar el impacto que tiene el incremento del IMC durante el embarazo en los resultados obstétricos en el Hospital Clínico de la Universidad de Chile. Material y métodos: Estudio retrospectivo que incluye a embarazadas atendidas en el hospital entre el año 2001 y 2006. Las mujeres con embarazos únicos fueron clasificadas en las distintas categorías de IMC. El incremento del IMC se calculó como la diferencia entre el IMC del inicio y el del final de la gestación. Para comparar las variables categóricas se usó el test exacto de Fisher y para las variables continuas el test de la t para comparación de 2 medias. Resultados: El estudio incluyó a 5.478 mujeres: 568(10,48%) no incrementaron su categoría de IMC y4.910 (89,51%) aumentaron su IMC en 1 o más categorías. El incremento del IMC se asoció a mayor riesgo de preeclampsia (p = 0,004) y operación cesárea (p =0,009) en las pacientes con sobrepeso, no así en las pacientes con normopeso al inicio del embarazo. Las pacientes obesas presentan mayor riesgo de preeclampsia(p = 0,008), diabetes gestacional (p < 0,001), operación cesárea (p < 0,001) e infección posparto (p = 0,009).Conclusión: El incremento en la categoría de IMC se asocia a un aumento del riesgo de complicaciones obstétricas (AU)

Background: Previous studies have shown that an increase in body mass index (BMI) is associated with a greater risk of obstetric complications. Aim: To investigate the effect of an increase in BMI category on obstetric outcomes in Hospital Clínic of the University of Chile. Material and methods: A retrospective study was conducted of women followed-up in the hospital from2001 to 2006. Women with singleton pregnancies were placed in standard BMI categories. Increases in BMI were calculated as the difference between initial BMI and that at delivery. Fisher’s exact test was used to compare categorical variables and the t test between two means was used for continuous variables. Results: This study included 5,478 women: 568(10.48%) had no change in BMI category and 4.910(89.51%) increased their BMI by >= 1 category. An increase in BMI category was associated with higher rates of preeclampsia (p = 0.004) and cesarean delivery(p = 0.009) in overweight women but not in women with a healthy weight at the beginning of pregnancy. Obese women had a higher risk of preeclampsia (p =0.008), gestational diabetes (p < 0.001), cesarean delivery(p < 0.001), and postpartum infection (p = 0.009).Conclusions: An increase in BMI category is associated with a greater risk of obstetric complications (AU)

Microvascular decompression for hemifacial spasm: postoperative neurologic follow-up and evaluation of life quality.

Microvascular decompression (MVD) is an effective and safe treatment in hemifacial spasm (HFS). Postoperative evaluations are usually made by neurosurgeons. Follow-up studies performed by neurologists and postoperative quality of life (QoL) investigations are lacking. All 25 HFS patients operated with MVD in our centre between 2000 and 2004 were evaluated with the recently validated HFS-7 scheme, extended with the item 'sleep disturbance due to HFS' (HFS-8). The patients underwent a careful neurological examination median 3 years after the operation. The evaluation focused on clinical aspects, changes in blood pressure and time until observable effect of MVD. The evaluation of HFS-7 questionnaire and the extended form (HFS-8) showed significant improvement in QoL after MVD. Neurological outcome was in almost all cases excellent or good. Eleven (44%) patients had no neurological deficits at all. Only one patient had serious complications with ipsilateral facial palsy, deafness, balance problems and vertigo. The other patients had minor neurological findings or symptoms. Eighteen (72%) patients experienced early effect within 3 months after MVD; seven (28%) patients had late effect between 6 and 14 months. Median age of the patients with late effect (62.6 years) was significantly higher than in those with early effect (52.7 years).

Grüneisen ratio divergence at the quantum critical point in CeCu(6-x)Agx.

The heavy-fermion system CeCu6-xAgx is studied at its antiferromagnetic quantum critical point, xc=0.2, by low-temperature (T> or =50 mK) specific heat, C(T), and volume thermal expansion, beta(T), measurements. Whereas C/T proportional to log((T0/T) would be compatible with the predictions of the itinerant spin-density-wave (SDW) theory for two-dimensional critical spin fluctuations, beta(T)/T and the Grüneisen ratio, Gamma(T) proportional to beta/C, diverge much weaker than expected, in strong contrast to this model. Both C and beta, plotted as a function of the reduced temperature t=T/T0 with T0=4.6 K, are similar to what was observed for YbRh2(Si(0.95)Ge(0.05))2 (T0=23.3 K), indicating a striking discrepancy to the SDW prediction in both systems.

TP53 gene mutations, nuclear p53 accumulation, expression of Waf/p21, Bcl-2, and CD95 (APO-1/Fas) proteins are not prognostic factors in de novo glioblastoma multiforme.

Glioblastoma multiforme (WHO grade IV; GBM) is the most common primary brain tumor with a median survival of less than one year despite multimodal treatment regimens. However, a small subgroup of GBM patients has a better clinical outcome, with a small number of patients surviving several years. Apoptosis, a genetically determined program of cell suicide, may be induced as a consequence of critical DNA damage. However, due to defects in the signaling pathways, cancer cells may escape apoptosis, despite carrying irreversible DNA damage. In the present study, we have analyzed tumors of two age-matched, equally treated groups of GBM patients with different postoperative time to tumor progression (TTP), defined as 'short-term' for TTP of less than 6 months (n = 54), and 'long-term' for TTP of more than 12 months (n = 39) for alterations in apoptosis regulatory pathways: Mutations of the TP53 tumor suppressor gene and/or nuclear accumulation of its gene product p53, expression of Waf/p21, CD95 (Apo1/Fas), and Bcl-2. TP53 mutations were found in 12 out of 54 (22%) GBMs of short-term survivors and 8 out of 35 (23%) tumors of long-term survivors; the respective numbers for nuclear p53 protein accumulation were 12/53 (23%) and 10/37 (27%). Waf1/p21 expression was found in 13/53 (25%) tumors of short-term survivors and 9/35 (26%) GBMs of long-term survivors. The respective numbers for Bcl-2 expression were 25/42 (60%) and 22/36 (61%) and for CD95 (Apo1/Fas) expression 20/49 (41%) and 14/36 (39%) GBMs. The percentage of alterations in genes/proteins involved in the apoptotic pathway investigated here was virtually identical in the two groups of clinically different GBM patients. Thus, our data imply that none of these alterations investigated per se has a strong impact on the overall survival of GBM patients.

Long-term survival of glioblastoma multiforme: importance of histopathological reevaluation.

The overall prognosis for patients with glioblastoma multiforme is extremely poor. However, a small proportion of patients enjoy prolonged survival. This study investigated retrospectively the extent to which erroneous histopathological classification may contribute to long-term survival of patients initially diagnosed with "glioblastoma multiforme." We compared two age- and gender-matched patient groups with different postoperative time to tumor progression (TTP), defined as "short-term" for TTP of less than 6 months (n = 54), and "long-term" for TTP of more than 12 months (n = 52). Histological specimens of the corresponding tumors, all primarily diagnosed as glioblastoma multiforme, were reevaluated according to the current World Health Organization (WHO) classification of central nervous system tumors, with the investigators being blinded to clinical outcome. Among the tumors from short-term TTP patients, one tumor (2%) was reclassified as anaplastic oligoastrocytoma (WHO grade III) while the remaining 53 were confirmed as glioblastoma multiforme. In contrast, 13 tumors (25%) from the long-term TTP patients were reclassified, mostly as anaplastic oligodendroglioma (WHO grade III; n = 7) or anaplastic oligoastrocytoma (WHO grade III, n = 2), respectively. In addition, three were reclassified as anaplastic astrocytoma (WHO grade III), and one was identified as anaplastic pilocytic astrocytoma (WHO grade III). Our data indicate that a sizable proportion of glioblastoma patients with long-term survival actually carry malignant gliomas with oligodendroglial features. The correct histopathological recognition of these tumors has not only prognostic but also therapeutic implications, since oligodendroglial tumors are more likely to respond favorably to chemotherapy.

Dramatic development of quadriplegia in a young man while engaged in heavy manual labour: a post-traumatic spinal cord injury?

A healthy 16-year-old male suddenly developed paraesthesiae in his hands during heavy manual labour. He was able to walk to the nearest doctor's practice himself. The symptoms worsened dramatically, and within a short period of time cardiac arrest occurred. After resuscitation and intensive care, quadriplegia due to a high cervical cord lesion was diagnosed. The patient died 70 days later without any changes in the neurological symptoms. Post mortem revealed severe focal ischaemic lesions in the cervical spinal cord in a mixed arterial/venous distribution, but no evidence of direct traumatic changes in the spinal cord, the spine or the soft tissues. All other possible causes than trauma were excluded. The clinical development of the symptoms suggest that this spinal cord lesion should be classified as a secondary traumatic spinal cord injury caused by a subluxation of the cervical spine. The pathogenesis of post-traumatic ischaemic damage to the spinal cord appears to be related to localized hypercoagulability resulting in the formation of microthrombi. Impaired microcirculation in a limited area and for a limited period of time may have caused the irregularly distributed ischaemic necrosis.

Preparation of succinimidyl and pentafluorophenyl active esters of 5- and 6-carboxyfluorescein.

A mixture of 5- and 6-carboxyfluorescein was activated with 1-[3-(dimethylamino)propyl]-3-ethylcarbodiimide hydrochloride in the presence of either N-hydroxysuccinimide or pentafluorophenol to give the corresponding succinimidyl and pentafluorophenyl esters. The regioisomeric mixtures were separated to give the 5- and 6-succinimidyl and pentafluorophenyl active esters in > 98% purity.

[CT and PRI angiographic findings in dissection of the neck arteries]. / CT- und MR-angiographische Befunde bei der Dissektion von Halsarterien.

PURPOSE: To determine the usefulness of CT angiography (CTA) and MR angiography (MRA) for evaluation of dissection in cervical vessels. MATERIAL AND METHODS: Dissection of cervical vessels was revealed by conventional angiography in 4 patients (two female, two male) of 30-62 years of age. Dissection was located in the carotid artery (n = 3) and in the vertebral artery (n = 1). In two patients CTA and in two patients MRA was performed. RESULTS: Diagnosis of dissection was possible by CTA (internal carotid artery: n = 2) and by MRA (internal carotid artery and vertebral artery). Imaging of the dissection membrane of the vessel wall was possible in one case with MRA. CONCLUSION: CT and MR angiography was successful for detection of typical morphology of dissection in all cases. If results in a greater number can be obtained it seems to be conceivable that both methods can be used in primary diagnosis.

[Chemotherapy in malignant gliomas]. / Chemotherapie bei malignen Gliomen.

Considering the survival time of patients with malignant gliomas indication for chemotherapy in spite of side effects is recommended. One third of them are living 2 years, some even longer. Before starting such a treatment a critical evaluation is mandatory, a prolongation of dying must be avoided. In addition personal human care to the patient and his family has a great importance.

Marchiafava-Bignami disease with recovery diagnosed by CT and MRI: demyelination affects several CNS structures.

Marchiafava-Bignami disease (MBD) is a rare complication of chronic alcoholism. Most reported cases have been diagnosed at autopsy. With CT and, especially, MRI it is possible to diagnose MBD in its early stages. Lesions of CNS structures other than the typical demyelination of the corpus callosum are described ante mortem in a patient with MBD. The more frequent use of CT and MRI in sudden onset encephalopathies of alcoholics could reveal the real incidence of MBD, and the consequent detection of other involved CNS systems might improve our knowledge about the aetiology, pathogenesis, prognosis and therapy of MBD.