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1.
Orphanet J Rare Dis ; 18(1): 349, 2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-37946245

RESUMEN

BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by mutations in the TSC1 or TSC2 gene. More than 90% of patients with TSC develop neurological and/or neuropsychiatric manifestations. The aim of the present study was to determine the developmental and cognitive long-term outcomes of pediatric TSC patients. METHODS: This cross-sectional, monocenter study included pediatric TSC patients who received multidisciplinary long-term care with a last visit between 2005 and 2019. Neurological manifestations and cognitive development (BSID, K-ABC) were analyzed in relation to age and type of mutation. RESULTS: Thirty-five patients aged 13.5 ± 7.8 years were included in the study. Diagnosis was confirmed genetically in 65.7% of patients (TSC1, 26.1%; TSC2, 65.2%; NMI, 8.7%). Mean age at diagnosis was 1.3 ± 3.5 years; 74.3% of the patients had been diagnosed within the first year of life due to seizures (62.9%) or/and cardiac rhabdomyomas (28.6%). The most common TSC manifestations included structural brain lesions (cortical tubers, 91.4%; subependymal nodules, 82.9%), epilepsy (85.7%), and cardiac rhabdomyomas (62.9%). Mean age at seizure onset was 1.5 ± 2.3 years, with onset in 80.0% of patients within the first two years of life. Infantile spasms, which were the first seizure type in 23.3% of the patients, developed earlier (0.6 ± 0.4 years) than focal seizures (1.8 ± 2.5 years). Refractory epilepsy was present in 21 (70.0%) patients, mild or severe intellectual impairment in 66.6%, and autism spectrum disorders in 11.4%. Severe cognitive impairment (33.3%) was significantly associated with epilepsy type and age at seizure onset (p < 0.05). CONCLUSIONS: The results emphasized the phenotypic variability of pediatric-onset TSC and the high rate of neurological and neuropsychiatric morbidity. Early-onset refractory epilepsy was associated with impaired cognitive development. Children of all ages with TSC require multidisciplinary long-term care and individual early-intervention programs.


Asunto(s)
Epilepsia Refractaria , Epilepsia , Rabdomioma , Esclerosis Tuberosa , Niño , Humanos , Lactante , Preescolar , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/genética , Epilepsia Refractaria/complicaciones , Estudios Transversales , Epilepsia/genética , Convulsiones/genética
2.
Epilepsy Res ; 166: 106402, 2020 10.
Artículo en Inglés | MEDLINE | ID: mdl-32673968

RESUMEN

INTRODUCTION: The aim of our study was to evaluate intracerebral network changes in epilepsy patients demonstrating secondary bilateral synchrony (SBS) in EEG by applying a new Diffusion Tensor Imaging (DTI) method using an energy-based global tracking algorithm. MATERIALS AND METHODS: 10 MRI negative epilepsy patients demonstrating SBS in 10-20 surface EEG were included. EEG findings were analyzed for irritative zones characterized by focal interictal epileptiform discharges (IEDs) triggering SBS. In addition, DTI including an energy-based global tracking algorithm was applied to analyze fiber tract alterations in irritative zones. To measure the deviation of a certain cortical connection in comparison to healthy controls, normalized differences of fiber tract streamline counts (SC) and their p-values were evaluated in comparison to corresponding fibers of the control group. RESULTS: In 6 patients the irritative zone initiating SBS was located in the frontal lobe, in 3 patients in the temporal lobe and in 1 patient in the region surrounding the right central sulcus. All patients demonstrated significantly altered SC in brain lobes where the irritative zone triggering SBS was located (p ≤ 0.05). Seven out of 10 patients demonstrated SC alterations in tracts connecting brain lobes between the ipsilateral and the contralateral hemisphere (p ≤ 0.05). CONCLUSION: Our data demonstrate that alterations in fiber tracts in irritative zones triggering SBS are not necessarily associated with intracerebral lesions visible in high resolution MRI. Our study gives evidence that diffusion tensor imaging is a promising non-invasive additive tool for intracerebral network analyses even in MRI-negative epilepsy patients.


Asunto(s)
Encéfalo/fisiopatología , Imagen de Difusión Tensora/métodos , Electroencefalografía/métodos , Epilepsia/fisiopatología , Red Nerviosa/fisiopatología , Sustancia Blanca/fisiopatología , Adulto , Encéfalo/diagnóstico por imagen , Estudios de Cohortes , Epilepsia/diagnóstico por imagen , Femenino , Humanos , Masculino , Persona de Mediana Edad , Red Nerviosa/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen , Adulto Joven
3.
Acta Neurol Scand ; 138(3): 195-202, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-29658982

RESUMEN

OBJECTIVE: The purpose of this study was to evaluate the tolerability and efficacy of brivaracetam (BRV) in residential patients at our epilepsy centre. PATIENTS AND METHODS: We assessed retrospectively 33 patients (14 females; mean age 38.2 years, with range 17-63 years) with intellectual disability (ID) and drug-resistant epilepsy using an industry-independent, non-interventional study design based on standardized daily seizure records. Mean seizure frequency was compared between the 3-month baseline period and subsequent 3-month treatment period. Evaluation, including calculation of retention rate, was carried out for the intervals 3-6 and 9-12 months after brivaracetam initiation. Responders were defined as having a 50% reduction in seizure frequency. The Clinical Global Impression scale (CGI) was applied to allow assessment of qualitative changes in seizure severity, and the Aggressive Behaviour Scale (ABS) gave further insights into challenging behaviour. RESULTS: The responder rate was 19%, and one non-responder attained an improvement in CGI score. The retention rate after 12 months was 37%. Brivaracetam treatment was stopped because of adverse events (n = 3), lack of efficacy (n = 8) or both (n = 6). Thirteen patients experienced behavioural changes, with aggressive behaviour being the commonest effect. We also observed ataxia (n = 2), gastrointestinal disorder (n = 3) and sedation (n = 2). The ABS showed deterioration, or new occurrence, of aggressive behaviour in 13 patients. CONCLUSIONS: Brivaracetam seems to be effective in a small number of patients suffering from difficult-to-treat epilepsy and intellectual disability. Challenging behaviour was documented in a relevant number of patients, with psychiatric illness being a risk factor for this.


Asunto(s)
Anticonvulsivantes/efectos adversos , Conducta/efectos de los fármacos , Epilepsia Refractaria/tratamiento farmacológico , Discapacidad Intelectual/complicaciones , Pirrolidinonas/efectos adversos , Adolescente , Adulto , Epilepsia Refractaria/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Riesgo , Convulsiones/tratamiento farmacológico , Resultado del Tratamiento , Adulto Joven
4.
Ned Tijdschr Geneeskd ; 161: D1290, 2018.
Artículo en Holandés | MEDLINE | ID: mdl-29350115

RESUMEN

Haemolytic anaemia is the result of an abnormal breakdown of red blood cells. The direct antiglobulin test (DAT), also known as the direct Coombs test, can be used to determine the cause of the haemolysis. The DAT distinguishes between immune and non-immune causes of haemolysis. However, the DAT should not be used in screening for haemolysis. When the DAT is performed without an indication for in vivo haemolysis, there is a high risk of false-positive results. To increase the specificity of the DAT, the eluate can be tested to determine the specificity of the autoantibodies. In this article we present two cases of haemolytic anaemia in which the DAT gives further indication of the cause of haemolysis.


Asunto(s)
Anemia Hemolítica Autoinmune/diagnóstico , Prueba de Coombs/métodos , Anciano de 80 o más Años , Anemia Hemolítica Autoinmune/sangre , Autoanticuerpos/sangre , Diagnóstico Diferencial , Eritrocitos/inmunología , Femenino , Hemólisis/inmunología , Hemólisis/fisiología , Humanos , Masculino , Persona de Mediana Edad , Sensibilidad y Especificidad
5.
Acta Neurol Scand ; 136(6): 645-653, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28568478

RESUMEN

OBJECTIVES: The aim of this cross-sectional retrospective study was to assess the tolerability and efficacy of perampanel in patients with drug-resistant epilepsy who also suffered from intellectual disability (ID). PATIENTS AND METHODS: We used an industry-independent, non-interventional retrospective evaluation based on standardized, daily seizure records. Twenty-seven patients with ID and drug-resistant epilepsy were started on perampanel between September 2012 and November 2015 after a 3-month observation period without perampanel treatment. Perampanel was given at a maximum dosage of 4-12 mg daily. Evaluation was carried out after 6, 12 and 24 months, including calculation of the retention rate. Mean seizure frequency was compared between the 3-month baseline period and subsequent 3-month treatment periods. The Clinical Global Impression scale was applied to assess qualitative changes in seizure severity, and the Aggressive Behaviour Scale (ABS) gave further insights into challenging behaviour. RESULTS: Perampanel was efficacious and well tolerated in five of 25 patients. In 18 patients, perampanel treatment was stopped, mainly because of adverse events (n=6), lack of efficacy (n=3) or both (n=9). Behavioural changes were documented in 15 of 27 patients, with aggressive behaviour being the commonest effect; we observed ataxia (n=6) and sedation (n=8) in further patients. The ABS showed worsening of aggressive behaviour in six patients. CONCLUSIONS: Perampanel was well tolerated and efficacious in one-fifth of our patients. We observed challenging behaviour, ataxia and sedation in a relevant number of patients with ID under perampanel treatment. Further studies are warranted to explore the tolerability of perampanel in patients with ID.


Asunto(s)
Anticonvulsivantes/efectos adversos , Conducta/efectos de los fármacos , Epilepsia Refractaria/tratamiento farmacológico , Discapacidad Intelectual/complicaciones , Piridonas/efectos adversos , Adulto , Estudios Transversales , Epilepsia Refractaria/complicaciones , Femenino , Humanos , Masculino , Persona de Mediana Edad , Nitrilos , Estudios Retrospectivos , Resultado del Tratamiento
6.
Nervenarzt ; 87(8): 829-37, 2016 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-27389599

RESUMEN

Stimulation has been performed experimentally and in small case series to treat epilepsy since the 1970s. Since the introduction of vagus nerve stimulation in 1997 and intracranial stimulation methods in 2011 into patient care, invasive stimulation has become a rapidly developing but infrequently used therapeutic option in Europe. Whereas vagus nerve stimulation is frequently used, particularly in the USA, intracranial stimulation differs in its regional availability. In order to improve the efficacy of stimulation, develop criteria for its use and assure low complication rates, a concentration on experienced centers and multicenter data acquisition and sharing are needed.Invasive electroencephalographic (EEG) monitoring with subdural electrodes and especially with stereotactically implanted depth electrodes have been used increasingly more often for presurgical evaluation in recent years. They are applied when non-invasive diagnostics show insufficient results to exactly identify the location and extent of the epileptogenic zone or cannot be adequately distinguished from eloquent cortex areas. Complications include intracranial hemorrhage, infections and increased intracranial pressure but lasting deficits or even death are rare (≤2 %). The outcome of invasive monitoring is inferior to non-invasive monitoring because of the higher degree of complexity of the cases; however, it is far superior to the seizure-free rates achieved by anticonvulsant drug treatment alone.


Asunto(s)
Estimulación Encefálica Profunda/métodos , Electroencefalografía/métodos , Epilepsia/diagnóstico , Epilepsia/terapia , Neuroestimuladores Implantables , Procedimientos Neuroquirúrgicos/métodos , Medicina Basada en la Evidencia , Humanos , Resultado del Tratamiento
7.
Brain Stimul ; 9(3): 356-363, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27033012

RESUMEN

BACKGROUND: Various brain stimulation techniques are in use to treat epilepsy. These methods usually require surgical implantation procedures. Transcutaneous vagus nerve stimulation (tVNS) is a non-invasive technique to stimulate the left auricular branch of the vagus nerve at the ear conch. OBJECTIVE: We performed a randomized, double-blind controlled trial (cMPsE02) to assess efficacy and safety of tVNS vs. control stimulation in patients with drug-resistant epilepsy. METHODS: Primary objective was to demonstrate superiority of add-on therapy with tVNS (stimulation frequency 25 Hz, n = 39) versus active control (1 Hz, n = 37) in reducing seizure frequency over 20 weeks. Secondary objectives comprised reduction in seizure frequency from baseline to end of treatment, subgroup analyses and safety evaluation. RESULTS: Treatment adherence was 84% in the 1 Hz group and 88% in the 25 Hz group, respectively. Stimulation intensity significantly differed between the 1 Hz group (1.02 ± 0.83 mA) and the 25 Hz group (0.50 ± 0.47 mA; p = 0.006). Mean seizure reduction per 28 days at end of treatment was -2.9% in the 1 Hz group and 23.4% in the 25 Hz group (p = 0.146). In contrast to controls, we found a significant reduction in seizure frequency in patients of the 25 Hz group who completed the full treatment period (20 weeks; n = 26, 34.2%, p = 0.034). Responder rates (25%, 50%) were similar in both groups. Subgroup analyses for seizure type and baseline seizure frequency revealed no significant differences. Adverse events were usually mild or moderate and comprised headache, ear pain, application site erythema, vertigo, fatigue, and nausea. Four serious adverse events were reported including one sudden unexplained death in epilepsy patients (SUDEP) in the 1 Hz group which was assessed as not treatment-related. CONCLUSIONS: tVNS had a high treatment adherence and was well tolerated. Superiority of 25 Hz tVNS over 1 Hz tVNS could not be proven in this relatively small study, which might be attributed to the higher stimulation intensity in the control group. Efficacy data revealed results that justify further trials with larger patient numbers and longer observation periods.


Asunto(s)
Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/terapia , Estimulación Eléctrica Transcutánea del Nervio/métodos , Estimulación del Nervio Vago/métodos , Adulto , Método Doble Ciego , Epilepsia Refractaria/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Resultado del Tratamiento , Nervio Vago/fisiología
9.
Nervenarzt ; 87(4): 386-93, 2016 Apr.
Artículo en Alemán | MEDLINE | ID: mdl-26927680

RESUMEN

Epilepsy is one of the most common chronic neurological diseases and represents a significant burden for patients, their families and society. In more than 75 % of patients anticonvulsant therapy consists of valproate, carbamazepine, lamotrigine or levetiracetam. There is a need for polytherapy in drug-refractory patients and they suffer from negative effects on quality of life and employment that is associated with high indirect costs. To allow a comprehensive treatment in this patient group, access to new anticonvulsants with novel modes of action is needed; however, all applications for new antiepileptic drugs failed to prove added benefits during the Pharmaceutical Market Restructuring Act (AMNOG) in Germany. One of the main reasons is the mandatory definition of a standard comparative therapy. It remains unclear whether there will be studies in the future which will fulfill the requirements of the current version of AMNOG. Observational studies after approval and marketing of new antiepileptic drugs could be better alternatives to prove added benefits for individual patients in the current German healthcare system.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Industria Farmacéutica/legislación & jurisprudencia , Epilepsia/prevención & control , Comercialización de los Servicios de Salud/legislación & jurisprudencia , Evaluación de Resultado en la Atención de Salud/legislación & jurisprudencia , Garantía de la Calidad de Atención de Salud/legislación & jurisprudencia , Anticonvulsivantes/normas , Aprobación de Drogas/economía , Aprobación de Drogas/legislación & jurisprudencia , Alemania , Regulación Gubernamental , Reforma de la Atención de Salud/economía , Reforma de la Atención de Salud/legislación & jurisprudencia , Humanos , Legislación de Medicamentos , Comercialización de los Servicios de Salud/economía , Evaluación de Resultado en la Atención de Salud/economía , Garantía de la Calidad de Atención de Salud/economía
10.
Epilepsy Behav ; 56: 54-8, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26828693

RESUMEN

PURPOSE: Retigabine (RTG, ezogabine) is the first potassium channel-opening anticonvulsant drug approved for adjunctive treatment of focal epilepsies. We report on the postmarketing clinical efficacy, adverse events, and retention rates of RTG in adult patients with refractory focal epilepsy. METHODS: Clinical features before and during RTG treatment were retrospectively collected from patients treated at four German epilepsy centers in 2011 and 2012. RESULTS: A total of 195 patients were included. Daily RTG doses ranged from 100 to 1500 mg. Retigabine reduced seizure frequency or severity for 24.6% and led to seizure-freedom in 2.1% of the patients but had no apparent effect in 43.1% of the patients. Seizure aggravation occurred in 14.9%. The one-, two-, and three-year retention rates amounted to 32.6%, 7.2%, and 5.7%, respectively. Adverse events were reported by 76% of the patients and were mostly CNS-related. Blue discolorations were noted in three long-term responders. Three possible SUDEP cases occurred during the observation period, equalling an incidence rate of about 20 per 1000 patient years. CONCLUSIONS: Our results are similar to other pivotal trials with respect to the long-term, open-label extensions and recent postmarketing studies. Despite the limitations of the retrospective design, our observational study suggests that RTG leads to good seizure control in a small number of patients with treatment-refractory seizures. However, because of the rather high percentage of patients who experienced significant adverse events, we consider RTG as a drug of reserve.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Carbamatos/uso terapéutico , Epilepsia Refractaria/tratamiento farmacológico , Epilepsias Parciales/tratamiento farmacológico , Fenilendiaminas/uso terapéutico , Adolescente , Adulto , Anciano , Anticonvulsivantes/efectos adversos , Carbamatos/efectos adversos , Niño , Muerte Súbita Cardíaca/epidemiología , Electrocardiografía/efectos de los fármacos , Femenino , Alemania , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Fenilendiaminas/efectos adversos , Vigilancia de Productos Comercializados , Estudios Retrospectivos , Convulsiones/tratamiento farmacológico , Centros de Atención Terciaria , Resultado del Tratamiento , Adulto Joven
11.
J Psychiatr Ment Health Nurs ; 22(9): 698-705, 2015 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-26271209

RESUMEN

ACCESSIBLE SUMMARY: What is known about the subject? Citizenship is an important yet largely overlooked concept within psychiatric and mental health nursing practice Many service users are subject to legally mandated restrictions that place conditions on their rights and responsibilities as citizens. What this paper adds to existing knowledge? Even though service users have legal status as citizens, they continue to experience many conditions on their rights and responsibilities. Concerns about services users' trustworthiness and doubts about their levels of insight impact on their status as full citizens. What are the implications for practice? Nurses' understandings of the conditions placed on the citizenship rights and responsibilities of service users will ensure inclusive and less restrictive care and treatment Integration of the principles of therapeutic reciprocity and procedural justice within practice will help nurses balance both the rights of services users and legal restrictions on their liberty and autonomy INTRODUCTION: Service users have long been lobbying for equal participation as citizens, yet citizenship is an important and largely overlooked concept within nursing education and practice. AIMS: The study explored service users' understandings of their rights and responsibilities of citizenship and the conditions placed on these. METHODS: A total of 17 service users participated in semi-structured interviews. Isin's theory of the content of citizenship was used to analyze the data using a framework approach. RESULTS: Service users experience conditional citizenship that includes barriers to their participation and their rights and responsibilities that others in society enjoy. DISCUSSION: When the world of the service user is constructed through the language of the biomedical model, nurses may unwittingly reinforce psychiatric labels and thus perpetuate the stereotype that service users lack the competence to fully enact their rights and responsibilities. IMPLICATIONS FOR PRACTICE: When providing care, nurses should incorporate the notion of therapeutic jurisprudence and the principles of reciprocity, procedural justice and the implementation of advanced directives to reduce conditions on service users' status as citizens.


Asunto(s)
Derechos Humanos , Servicios de Salud Mental , Enfermos Mentales/psicología , Adulto , Anciano , Humanos , Enfermos Mentales/legislación & jurisprudencia , Persona de Mediana Edad , Adulto Joven
12.
Clin Neurophysiol ; 126(8): 1514-23, 2015 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-25500193

RESUMEN

OBJECTIVES: Delayed cerebral infarction (DCI) has a significant impact on mortality and morbidity of patients with subarachnoid hemorrhage (SAH). The aim of this study was to define quantitative EEG (qEEG) parameters for the early and reliable prediction of DCI and compare the validity and time course of qEEG to standard procedures. METHODS: 12 consecutive unselected SAH patients (8 female, mean age 52 years, Hunt-and-Hess grade I-IV) were prospectively examined. Continuous six channel EEG monitoring was started within 48 h after admission (mean duration 5.2 days; range: 2-12 days). All raw and unselected EEG signal underwent automated artifact rejection, Short Time Fast Fourier Transformation and a detrending procedure in order to analyze regional spectral power changes in different frequency bands. According to clinical standards, transcranial Doppler sonography (TCD) was performed at least on alternate days and repeat cerebral computer tomography (CCT) as needed. RESULTS: 6 patients (50%) developed vasospasm/DCI. Decrease of ⩾40% in power persisting over ⩾5h in the alpha band and ⩾6h in the theta band marked the optimal cut-off to detect DCI (sensitivity 89%, specificity 77% for alpha). EEG changes preceded detection of vasospasm/DCI in standard procedures by 2.3d ays. Changes in the beta and delta band as well as in the alpha/delta ratio demonstrated lower correlation with imminent DCI. CONCLUSIONS: Focal reduction in alpha power may represent a valid, observer independent, non-invasive and continuous marker for vasospasm/DCI in SAH patients. SIGNIFICANCE: qEEG indicates imminent ischemia earlier than established diagnostic tools, such as TCD.


Asunto(s)
Isquemia Encefálica/diagnóstico , Encéfalo/fisiopatología , Electroencefalografía/métodos , Hemorragia Subaracnoidea/complicaciones , Adulto , Anciano , Algoritmos , Isquemia Encefálica/etiología , Isquemia Encefálica/fisiopatología , Diagnóstico Precoz , Femenino , Humanos , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Factores de Riesgo , Hemorragia Subaracnoidea/fisiopatología
13.
Nervenarzt ; 85(8): 955-64, 2014 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-25022893

RESUMEN

Regarding epilepsy several new developments can be reported. The International League Against Epilepsy (ILAE) has suggested a new definition of epilepsy, for the first time including a definition of epilepsy resolution. Progress in the diagnosis relates to new genetic findings, improvements in magnetic resonance imaging (MRI) and the increasing use of stereo electroencephalograms (sEEG). Regarding treatment there are new clinically relevant data on the pathophysiology and prevention of sudden unexpected death in epilepsy (SUDEP). Zonisamide has been approved by the European Medicines Agency (EMA) for monotherapy in adults with focal seizures and combination therapy in children aged ≥ 6 years. Retigabin and perampanel have been approved but are currently taken off the market in Germany (only) because the Gemeinsamer Bundesausschuss (GBA, Joint Federal Committee) did not find any additional therapeutic value as compared to lamotrigine due to a lack of data. A decision regarding a new application for perampanel is pending. Regarding surgical treatment novel ablation techniques (e.g. stereotactic radiofrequency and laser ablation as well as focussed ultrasound ablation) and brain stimulation paradigms are under investigation. Experimental studies, generously supported by the European Union (EU) and the Deutsche Forschungsgemeinschaft (DFG, German Research Foundation) are focusing on (opto-)genetic (e.g. using lentoviral transfection), epigenetic (e.g. micro-RNA-related) approaches and on the investigation of neuronal micronetworks.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Estimulación Encefálica Profunda/tendencias , Electroencefalografía/tendencias , Epilepsia/diagnóstico , Epilepsia/terapia , Imagen por Resonancia Magnética/tendencias , Procedimientos Neuroquirúrgicos/tendencias , Humanos
15.
Eur J Endocrinol ; 170(2): 201-9, 2014 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-24174287

RESUMEN

OBJECTIVE: Serum calcium (Ca(2)(+)) and parathyroid hormone (PTH), amongst others, modify cortical excitability. Alterations in cortical excitability were shown in patients with epilepsy as well as hyper- or hypoparathyroidism. In patients with primary hyperparathyroidism (pHPT), preoperative elevated serum calcium and parathyroidectomy (PTx) may affect mood and quality of life. We hypothesized that perioperative changes in Ca(2)(+) and PTH in pHPT will affect cortical excitability and improve subjective health. DESIGN AND METHODS: Transcranial magnetic stimulation (TMS) was performed before and after surgery in 15 pHPT patients. We measured resting motor threshold, cortical silent period (CSP), short intracortical inhibition, and intracortical facilitation. Health questionnaires were administered before, 1 day and 6 months after PTx, along with the disease-specific Pasieka's parathyroid assessment of symptoms (PAS), which was, to our knowledge, its first use in German. RESULTS: SURGERY WAS SUCCESSFUL IN ALL PATIENTS. TMS-MEASUREMENTS REMAINED UNCHANGED WHEN ANALYZING ALL PATIENTS IN THIS PILOT STUDY. POSTOPERATIVELY, DEPRESSION DECLINED (P=0.05) AND QUALITY OF LIFE IMPROVED SIGNIFICANTLY (P=0.001) IN THE SF-36-SUBSCALES: vitality, social functioning, mental health and subjective health transition (post-hoc analysis). The PAS proved early relief of disease-specific symptoms (P<0.001). CONCLUSIONS: We found unchanged cortical excitability comparing pre- and post-PTx in this pilot study. Mood and quality of life improved postoperatively. The German PAS is valuable in detecting disease-specific changes early after PTx.


Asunto(s)
Calcio/sangre , Corteza Cerebral/fisiología , Hiperparatiroidismo Primario/psicología , Hormona Paratiroidea/sangre , Adulto , Afecto , Anciano , Calcio/fisiología , Depresión/psicología , Depresión/cirugía , Femenino , Humanos , Hiperparatiroidismo Primario/cirugía , Masculino , Persona de Mediana Edad , Proyectos Piloto , Periodo Posoperatorio , Calidad de Vida , Estimulación Magnética Transcraneal
17.
Eur J Pain ; 17(9): 1299-306, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-23529955

RESUMEN

BACKGROUND: Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder characterized by chronic abdominal pain. The transient receptor potential vanilloid 1 (TRPV1) channel, which is involved in visceral pain signalling, has been shown to be up-regulated in IBS. Activation of TRPV1 leads to the release of neuropeptides, such as somatostatin and substance P (SP). We hypothesized that increased pain perception in IBS could be explained by increased transcription in TRPV1 and/or altered levels of neuropeptides. We therefore assessed the transcription of TRPV1 and the mucosal concentration of somatostatin and SP in IBS in comparison to healthy volunteers and patients with ulcerative colitis (UC) in remission as disease controls, and to ascertain their relationship to pain symptoms. METHOD: Sigmoid colonic mucosal samples were collected from 12 patients with IBS, 34 patients with UC in remission and 9 healthy volunteers, in which groups TRPV1 mRNA levels were determined using quantitative polymerase chain reaction and neuropeptide concentrations by radioimmunoassay. Pain symptom intensity was determined by questionnaires. RESULTS: Transcription of TRPV1 as well as the concentration of neuropeptides were significantly higher in IBS, but only the former correlated with pain symptom severity. CONCLUSION: Increased transcription of TRPV1 may provide a possible explanation for pain generation in IBS. While the neuropeptides SP and somatostatin were both found to be increased in IBS, these changes are not sufficient to explain pain generation. Pain generation in IBS is probably explained by a complex redundancy in the regulation of local nociceptive mechanisms, which remains a subject of intensive investigation.


Asunto(s)
Dolor Abdominal/etiología , Colitis Ulcerosa/metabolismo , Colon Sigmoide/metabolismo , Mucosa Intestinal/metabolismo , Síndrome del Colon Irritable/metabolismo , Somatostatina/metabolismo , Sustancia P/metabolismo , Dolor Abdominal/metabolismo , Dolor Abdominal/fisiopatología , Colitis Ulcerosa/complicaciones , Colitis Ulcerosa/fisiopatología , Colon Sigmoide/fisiopatología , Femenino , Humanos , Mucosa Intestinal/fisiopatología , Síndrome del Colon Irritable/complicaciones , Síndrome del Colon Irritable/fisiopatología , Masculino , Canales Catiónicos TRPV/genética , Canales Catiónicos TRPV/metabolismo
18.
Occup Med (Lond) ; 63(4): 253-9, 2013 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-23503298

RESUMEN

BACKGROUND: The care of injured workers with chronic pain remains an important public health issue given its increasing prevalence. The consequences often include loss of self-esteem and stress in family relationships. AIMS: To report our interdisciplinary approach to the care of chronic pain disorder (CPD) and describe the predictors associated with a successful return to work (RTW). METHODS: Relevant covariates, including demographic data, time from injury, and functional scores were recorded for clients injured at work in Ontario, Canada. Our primary outcome, RTW, was assessed at 3 months post-discharge. Descriptive statistics and logistic regression were used to identify those factors predicting a successful RTW. RESULTS: Of the injured workers who participated in the interdisciplinary CPD treatment programme, 1002 clients met our inclusion criteria and were included in the study. Fifty-five per cent were male with a mean age of 46 years. Median time from injury to treatment was 720 days. At 3 months post-treatment, 136 (14%) of the participants were working. Multivariable logistic regression revealed that earlier time since injury (OR = 0.71, 95% CI 0.55-0.92) and presence of an RTW coordinator (RTWC) (OR = 3.42, 95% CI 2.08-5.63) were significant predictors of successful RTW. There was also a significant interaction between RTWC involvement and time since injury. The latter did not appear to influence the likelihood of RTW when an RTWC was present. CONCLUSIONS: Workers compensation boards should refer injured workers with CPD to treatment programmes as early as possible to achieve a successful RTW. Additionally, RTWCs play an important role in improving work outcomes.


Asunto(s)
Dolor Crónico/rehabilitación , Servicios de Salud del Trabajador/organización & administración , Traumatismos Ocupacionales/rehabilitación , Reinserción al Trabajo/estadística & datos numéricos , Adulto , Anciano , Canadá , Dolor Crónico/terapia , Femenino , Humanos , Comunicación Interdisciplinaria , Modelos Logísticos , Masculino , Persona de Mediana Edad , Traumatismos Ocupacionales/terapia , Estudios Retrospectivos , Factores de Riesgo , Factores de Tiempo , Adulto Joven
19.
Nervenarzt ; 83(12): 1551-8, 2012 Dec.
Artículo en Alemán | MEDLINE | ID: mdl-23192630

RESUMEN

The term non-convulsive status epilepticus (NCSE) refers to a heterogeneous group of diseases with different etiology, prognosis and treatment. The different forms of NCSE comprise about 25-50% of all status epilepticus cases. The most frequent form encountered in clinical practice is complex-partial SE but the rarer conditions of absence status, aura status and subtle SE are also included under this category. A diagnosis of NCSE should be considered in all patients with otherwise unexplained changes in consciousness or behavior and this diagnosis demands rapid further diagnostic work up including clinical examination, a detailed clinical history from the patient or an accompanying person, cranial computed tomography (CCT) and an electroencephalogram (EEG). If signs of an infectious or inflammatory disorder are present, a spinal tap is indicated. The EEG is of high relevance although interpretation can be challenging in NCSE.Absence status is usually treated by benzodiazepines and if necessary a broad spectrum anticonvulsive drug (ACD) such as valproic acid (VPA) can be added. The treatment of complex-partial SE follows the same scheme as that of generalized tonic-clonic SE and an initial benzodiazepine (i.v. lorazepam or intramuscular midazolam) followed by a bolus of one of the ACDs available as i.v. solution (e.g. VPA, phenytoin, phenobarbitol or levetiracetam). The third treatment step is general anesthesia if NCSE fails to be controlled. The aggressiveness of the applied therapy depends on the severity of the NCSE and the general condition of the patient. The prognosis is determined by the subtype of NCSE and the underlying etiology.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Benzodiazepinas/uso terapéutico , Electroencefalografía/métodos , Estado Epiléptico/diagnóstico , Estado Epiléptico/tratamiento farmacológico , Terminología como Asunto , Tomografía Computarizada por Rayos X/métodos , Cuidados Críticos/métodos , Humanos , Terapéutica
20.
Seizure ; 21(3): 227-8, 2012 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-22265576

RESUMEN

Minocycline, a tetracycline family antibiotic, is known to inhibit microglial activation and proinflammatory cytokine release in animal models. Experimental data show that these immune processes may play a role in epilepto- and ictogenesis. We present the case of a patient with marked reduction in seizure frequency during minocycline therapy with severe symptomatic epilepsy due to an astrocytoma.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Astrocitoma/complicaciones , Neoplasias Encefálicas/complicaciones , Epilepsia/tratamiento farmacológico , Minociclina/uso terapéutico , Astrocitoma/radioterapia , Astrocitoma/cirugía , Neoplasias Encefálicas/radioterapia , Neoplasias Encefálicas/cirugía , Epilepsia/etiología , Humanos , Masculino , Melanoma/complicaciones , Persona de Mediana Edad , Neoplasias Primarias Múltiples/patología , Neoplasias Cutáneas/complicaciones
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