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1.
Gesundheitswesen ; 86(3): 232-236, 2024 Mar.
Artículo en Alemán | MEDLINE | ID: mdl-38065548

RESUMEN

Headache is a frequent presenting symptom in the emergency department. While most cases are of benign aetiology, it is crucially important to identify potentially dangerous underlying disorders. We hypothesized an increase in headache-related emergency presentations after venous thrombosis of cerebral sinuses had been identified as a rare side effect of vaccination with adenovirus vector-based Coronavirus-disease 2019 (COVID-19) vaccines and that information had been publicly communicated by the Paul Ehrlich Institute. Data from patients with the diagnosis of primary headache disorders or unspecified headache presenting to the Interdisciplinary Emergency Department of the University Medicine Mannheim were retrospectively analysed. Based on vaccination dashboard data published by the Federal Ministry of Health, calendar weeks 14-30 and 47-48, on the one hand, and 1-13 and 31-46, on the othe, were categorized into a variable "vaccination epoch" (14-30, 47-48: high vaccination activity if≥3 million weekly vaccinations in Germany; 1-13, 31-46: low vaccination activity if<3 million weekly vaccinations). The number of patients with headache was the dependent variable. A Poisson regression was performed to analyze whether the frequency of events, i. e., patient presentations, was a function of year (2019, 2021), epoch (high, low) and an interaction of year and epoch - the latter reflecting an impact of vaccination activity during the pandemic and expressed as incidence rate ratio. Compared to 2019, there was a more than 70% increase in presentations due to headache during periods of high vaccination activity in 2021 (p<0.001; 95% confidence interval 1.272-2.316), in 25% of presentations in 2021, patients considered their headache as vaccination-associated. Public communication and resulting nocebo effects may, among other factors, have contributed to our observation of increased numbers of emergency headache presentations, illustrating the impact of public distribution of medical information on practical aspects of emergency care during crises.


Asunto(s)
COVID-19 , Humanos , COVID-19/epidemiología , Pandemias , Estudios Retrospectivos , Alemania , Cefalea/diagnóstico , Cefalea/epidemiología , Cefalea/etiología , Vacunación , Comunicación , Servicio de Urgencia en Hospital
2.
Neurogenetics ; 24(3): 209-213, 2023 07.
Artículo en Inglés | MEDLINE | ID: mdl-37341843

RESUMEN

Primary familial brain calcification (PFBC; formerly Fahr's disease) and early-onset Alzheimer's disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous loss-of-function mutation c.1523 + 1G > T in the PFBC-linked gene SLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF ß-amyloid parameters and FBB-PET suggested cortical ß-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c.235G > A/p.A79T in PSEN1. The SLC20A2 mutation segregated with mild calcifications in two children younger than 30 years. We thus describe the stochastically extremely unlikely co-morbidity of genetic PFBC and genetic EOAD. The clinical syndromes pointed to additive rather than synergistic effects of the two mutations. MRI data revealed the formation of PFBC calcifications decades before the probable onset of the disease. Our report furthermore exemplifies the value of neuropsychology and amyloid PET for differential diagnosis.


Asunto(s)
Enfermedad de Alzheimer , Enfermedades de los Ganglios Basales , Encefalopatías , Niño , Humanos , Enfermedad de Alzheimer/genética , Mutación , Enfermedades de los Ganglios Basales/patología , Encéfalo/patología , Morbilidad , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/genética , Encefalopatías/patología , Presenilina-1/genética
3.
Alzheimer Dis Assoc Disord ; 36(1): 44-51, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35001030

RESUMEN

BACKGROUND: Primary progressive aphasia (PPA) may present with three distinct clinical sybtypes: semantic variant PPA (svPPA), nonfluent/agrammatic variant PPA (nfvPPA), and logopenic variant PPA (lvPPA). OBJECTIVE: The aim was to examine the utility of the German version of the Repeat and Point (R&P) Test for subtyping patients with PPA. METHOD: During the R&P Test, the examiner reads out aloud a noun and the participants are asked to repeat the word and subsequently point to the corresponding picture. Data from 204 patients (68 svPPA, 85 nfvPPA, and 51 lvPPA) and 33 healthy controls were analyzed. RESULTS: Controls completed both tasks with >90% accuracy. Patients with svPPA had high scores in repetition (mean=9.2±1.32) but low scores in pointing (mean=6±2.52). In contrast, patients with nfvPPA and lvPPA performed comparably in both tasks with lower scores in repetition (mean=7.4±2.7 for nfvPPA and 8.2±2.34 for lvPPA) but higher scores in pointing (mean=8.9±1.41 for nfvPPA and 8.6±1.62 for lvPPA). The R&P Test had high accuracy discriminating svPPA from nfvPPA (83% accuracy) and lvPPA (79% accuracy). However, there was low accuracy discriminating nfvPPA from lvPPA (<60%). CONCLUSION: The R&P Test helps to differentiate svPPA from 2 nonsemantic variants (nfvPPA and lvPPA). However, additional tests are required for the differentiation of nfvPPA and lvPPA.


Asunto(s)
Afasia Progresiva Primaria , Afasia Progresiva Primaria no Fluente , Afasia Progresiva Primaria/diagnóstico , Humanos , Lenguaje
4.
Eur J Neurol ; 28(7): 2392-2395, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-33864730

RESUMEN

BACKGROUND AND PURPOSE: There has been an increasing interest in chronic active multiple sclerosis (MS) lesions as a new magnetic resonance imaging (MRI) marker of disease progression. Chronic active lesions are characterized by progressive tissue matrix damage, axonal loss and chronic inflammation. Sodium (23 Na) MRI provides a biochemical marker of cell integrity and tissue viability in a quantitative manner. The aim of this study was to investigate with 23 Na MRI tissue abnormalities in chronic active lesions as indicators of tissue destruction. METHODS: To identify chronic active lesions, two 3D magnetization-prepared rapid acquisition gradient-echo datasets obtained 12 months apart were processed using the voxel-guided morphometry algorithm. Cross-sectional 23 Na MRI was performed during the 12-month follow-up period. Total sodium concentration was calculated in chronic active lesions compared to shrinking, chronic stable and acute contrast-enhancing lesions. RESULTS: Overall, 70 MS lesions (21 chronic active, 10 shrinking, 29 chronic stable lesions, 10 acute contrast-enhancing lesions) in 12 patients were included. Total sodium concentration in chronic active lesions (49.57 ± 8.47 mM) was significantly higher than in shrinking (42.16 ± 3.9 mM; p = 0.03) and chronic stable lesions (39.92 ± 4.82 mM; p < 0.001). Chronic active lesions showed similar sodium values compared to acute contrast-enhancing lesions (48.06 ± 6.65 mM; p = 0.97). No differences between shrinking and chronic stable lesions were observed (p = 0.89). CONCLUSION: High sodium values in chronic active MS lesions may be an indicator of ongoing inflammation and tissue damage.


Asunto(s)
Esclerosis Múltiple , Sodio , Encéfalo/diagnóstico por imagen , Estudios Transversales , Progresión de la Enfermedad , Humanos , Imagen por Resonancia Magnética , Esclerosis Múltiple/diagnóstico por imagen
5.
Eur Arch Psychiatry Clin Neurosci ; 271(2): 377-379, 2021 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32519205

RESUMEN

During the rapid rise of the COVID-19 pandemic, a reduction of the numbers of patients presenting to emergency departments has been observed. We present an early study from a German psychiatric hospital to assess the dynamics of mental health emergency service utilization rates during the COVID-19 pandemic. Our results show that the numbers of emergency presentations decreased, and a positive correlation between these numbers and mobility of the general public suggests an impact of extended measures of social distancing. This finding underscores the necessity of raising and sustaining awareness regarding the threat to mental health in the context of the pandemic.


Asunto(s)
COVID-19 , Servicio de Urgencia en Hospital/estadística & datos numéricos , Servicios de Salud Mental/estadística & datos numéricos , Pandemias , Femenino , Alemania , Humanos , Masculino , Trastornos Mentales/epidemiología , Trastornos Mentales/terapia , Distanciamiento Físico , Cuarentena/psicología , Suiza
6.
Urol Int ; 105(11-12): 993-1001, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34237743

RESUMEN

INTRODUCTION: Children worldwide often do not drink enough. However, sufficient fluids are essential for physical and cognitive health. A regular and adequate supply of fluids also supports bladder maturation in the context of acquiring urinary continence. We investigated whether training preschool children and their caretakers improves drinking and micturition habits. METHODS: This field study in a pre-post design was conducted in 6 kindergartens in the district of Garmisch-Partenkirchen from October 2018 to February 2019. An intervention group (IG) received a 3-day training on drinking and micturition habits and was compared to a control group (CG) without any training. Caretakers (IG + CG) were instructed about drinking and voiding management, too. Behavioral changes were identified by questionnaires. To analyze the long-term effect, group interviews were performed with the IG 3 months after training. The training was evaluated on different levels. RESULTS: After training, the estimated total daily fluid intake in the IG (1,160 mL) significantly exceeded that of CG (830 mL) (p = 0.015). In the IG, fluid intake until 12:00 a.m. increased (p = 0.001), children took more time for voiding (p = 0.029), and urgency decreased (p = 0.008). Children (IG + CG) used leg support to enable pelvic floor relaxation more often both at home (p = 0.026) and in kindergarten (p = 0.047). Nocturnal enuresis was reduced by approximately 46% in the IG (p = 0.485). Group interviews in the IG showed a considerable learning effect. CONCLUSION: The present study could demonstrate an increased intake of fluids and significant changes in micturition behavior in the IG. So far, this is the first educational project in Germany addressing drinking and voiding management. Our results suggest that a training of preschool children and their caretakers is feasible and effective. Further nationwide research will be needed to confirm our results and assess the need for prevention in these areas.


Asunto(s)
Conducta Infantil , Desarrollo Infantil , Ingestión de Líquidos , Hábitos , Conductas Relacionadas con la Salud , Conocimientos, Actitudes y Práctica en Salud , Micción , Factores de Edad , Cuidadores/educación , Preescolar , Estudios de Factibilidad , Femenino , Alemania , Promoción de la Salud , Humanos , Masculino
7.
J Stroke Cerebrovasc Dis ; 30(9): 105949, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34186287

RESUMEN

Post stroke infection occurs in 15-20% of acute stroke patients and is associated with a poor longterm outcome. In a prospective study on 113 acute ischemic stroke patients with diabetes mellitus 15.9% suffered nosocomial infection. We found chronic hyperglycemia measured by skin autofluorescence in arbitrary units to be an independent predictor of a nosocomial infection post stroke (OR = 3.24 [CI 95%: 1.13; 9.26], p = 0.029). Skin autofluorescence represents the glycemic memory beyond HbA1c. Potential mechanisms leading from increased skin autofluorescence to vulnerability for infectious complications include more severe strokes due to preexisting vasculopathy and exacerbated post stroke immunosuppression.


Asunto(s)
Glucemia/metabolismo , Infección Hospitalaria/etiología , Diabetes Mellitus Tipo 2/metabolismo , Productos Finales de Glicación Avanzada/metabolismo , Piel/metabolismo , Accidente Cerebrovascular/complicaciones , Anciano , Anciano de 80 o más Años , Infección Hospitalaria/diagnóstico , Infección Hospitalaria/metabolismo , Diabetes Mellitus Tipo 2/complicaciones , Diabetes Mellitus Tipo 2/diagnóstico , Femenino , Hemoglobina Glucada/metabolismo , Humanos , Mediciones Luminiscentes , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Prospectivos , Medición de Riesgo , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/metabolismo
8.
Stroke ; 51(7): 2224-2227, 2020 07.
Artículo en Inglés | MEDLINE | ID: mdl-32516064

RESUMEN

BACKGROUND AND PURPOSE: This study aims to assess the number of patients with acute ischemic cerebrovascular events seeking in-patient medical emergency care since the implementation of social distancing measures in the coronavirus disease 2019 (COVID-19) pandemic. METHODS: In this retrospective multicenter study, data on the number of hospital admissions due to acute ischemic stroke or transient ischemic attack and numbers of reperfusion therapies performed in weeks 1 to 15 of 2020 and 2019 were collected in 4 German academic stroke centers. Poisson regression was used to test for a change in admission rates before and after the implementation of extensive social distancing measures in week 12 of 2020. The analysis of anonymized regional mobility data allowed for correlations between changes in public mobility as measured by the number and length of trips taken and hospital admission for stroke/transient ischemic attack. RESULTS: Only little variation of admission rates was observed before and after week 11 in 2019 and between the weeks 1 and 11 of 2019 and 2020. However, reflecting the impact of the COVID-19 pandemic, a significant decrease in the number of admissions for transient ischemic attack was observed (-85%, -46%, -42%) in 3 of 4 centers, while in 2 of 4 centers, stroke admission rates decreased significantly by 40% and 46% after week 12 in 2020. A relevant effect on reperfusion therapies was found for 1 center only (thrombolysis, -60%; thrombectomy, -61%). Positive correlations between number of ischemic events and mobility measures in the corresponding cities were identified for 3 of 4 centers. CONCLUSIONS: These data demonstrate and quantify decreasing hospital admissions due to ischemic cerebrovascular events and suggest that this may be a consequence of social distancing measures, in particular because hospital resources for acute stroke care were not limited during this period. Hence, raising public awareness is necessary to avoid serious healthcare and economic consequences of undiagnosed and untreated strokes and transient ischemic attacks.


Asunto(s)
Betacoronavirus , Isquemia Encefálica/epidemiología , Infecciones por Coronavirus/epidemiología , Pandemias , Neumonía Viral/epidemiología , Accidente Cerebrovascular/epidemiología , Enfermedad Aguda , Anciano , Isquemia Encefálica/terapia , COVID-19 , Áreas de Influencia de Salud , Femenino , Alemania/epidemiología , Hospitales Especializados/estadística & datos numéricos , Humanos , Ataque Isquémico Transitorio/epidemiología , Masculino , Persona de Mediana Edad , Aceptación de la Atención de Salud/estadística & datos numéricos , Admisión del Paciente/estadística & datos numéricos , Utilización de Procedimientos y Técnicas , Reperfusión/estadística & datos numéricos , Estudios Retrospectivos , SARS-CoV-2 , Accidente Cerebrovascular/terapia
9.
BMC Urol ; 20(1): 76, 2020 Jun 26.
Artículo en Inglés | MEDLINE | ID: mdl-32590972

RESUMEN

BACKGROUND: Approximately 1% of urolithiasis cases in Germany affect children. Interdisciplinary groups have agreed on national and international guidelines for children to recommend appropriate treatment pathways. The aim of this retrospective and preliminary study is to analyze whether adherence to current guidelines for pediatric stone disease in southwestern Germany is feasible. METHODS: During 2014 to 2017 24 children and adolescents (nine female, 15 male, median age 9.7 years), were treated for symptomatic urolithiasis in our institutions. We retrospectively collected clinical and operative courses. Clinical pathways were compared to previous guideline recommendations of the EAU 2014 and the German S2k guideline 2015. RESULTS: 17 of the 24 patients were treated according to guideline recommendations (71%). Non-adherency was based on parental decisions in two and technical/medical considerations in five cases. In 11 children (45.8%) secondary or adjunctive treatments were necessary, in three of the seven non-adherently treated (43%) and in eight of the 17 adherently treated children (47%). CONCLUSION: Our daily treatment approach seems to comply well with current pediatric stone guidelines. Nevertheless, guideline-non-adherent decision making emphasizes their strength and limitations, as specific clinical situations in children may require an individual treatment plan, as non-predictable conditions may occur.


Asunto(s)
Adhesión a Directriz/estadística & datos numéricos , Urolitiasis/terapia , Adolescente , Niño , Preescolar , Estudios de Factibilidad , Femenino , Alemania , Humanos , Lactante , Masculino , Estudios Retrospectivos , Urolitiasis/diagnóstico
10.
J Thromb Thrombolysis ; 45(4): 529-535, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29476304

RESUMEN

BACKGROUND: Non-vitamin K antagonist oral anticoagulants (NOACs) have gained increasing importance for stroke prevention in patients with non-valvular atrial fibrillation (AF). With changing prescription practice, among other factors, clinicians can expect to see rising numbers of patients with ischemic stroke and pre-existing NOAC therapy. Few data exist regarding a potential impact of NOAC on stroke severity and outcome. AIMS: To evaluate the impact of pre-admission NOAC therapy on ischemic stroke severity. METHODS: Retrospective analysis of medical data of 376 patients with newly detected AF or known AF with either no pre-admission oral anticoagulation (n = 277) or existing NOAC therapy (n = 99; Apixaban, n = 33, Dabigatran, n = 16; Edoxaban, n = 1; Rivaroxaban, n = 49) consecutively admitted for acute ischemic stroke between January 2015 and December 2016. RESULTS: Patients with pre-admission NOAC had significantly more often experienced a prior stroke than patients not on NOAC therapy (45.5 vs. 18.4%, p < 0.001) and were significantly more frequently non-smokers (1.0 vs. 7.2%, p = 0.021). Significantly more patients without pre-admission NOAC received thrombolysis (33.8 vs. 8.1%, p < 0.001). Pre-admission NOAC therapy was associated with significantly lower NIHSS and mRS scores upon admission (median NIHSS score 6 vs. 10, p = 0.018, median mRS score 4 vs. 5, p = 0.035) and trend-level lower NIHSS scores at discharge (median NIHSS score 3 vs. 5, p = 0.057). There were no differences regarding the frequency of symptomatic intracerebral hemorrhage between NOAC and non-NOAC patients (p > 0.05). CONCLUSIONS: We report a positive impact of pre-admission NOAC on ischemic stroke severity, which is particularly remarkable in light of the increased prevalence of prior stroke and lower rates of thrombolysis in this patient population.


Asunto(s)
Anticoagulantes/uso terapéutico , Isquemia Encefálica , Accidente Cerebrovascular/prevención & control , Anciano , Anciano de 80 o más Años , Fibrilación Atrial/complicaciones , Hemorragia Cerebral/inducido químicamente , Humanos , Persona de Mediana Edad , Admisión del Paciente , Recurrencia , Estudios Retrospectivos , Accidente Cerebrovascular/tratamiento farmacológico , Accidente Cerebrovascular/patología , Terapia Trombolítica
11.
PLoS Genet ; 11(3): e1005024, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25763902

RESUMEN

The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the uro-rectal malformation spectrum, and is thought to result from aberrant embryonic morphogenesis of the cloacal membrane and the urorectal septum. The most common form of BEEC is isolated classic bladder exstrophy (CBE). To identify susceptibility loci for CBE, we performed a genome-wide association study (GWAS) of 110 CBE patients and 1,177 controls of European origin. Here, an association was found with a region of approximately 220kb on chromosome 5q11.1. This region harbors the ISL1 (ISL LIM homeobox 1) gene. Multiple markers in this region showed evidence for association with CBE, including 84 markers with genome-wide significance. We then performed a meta-analysis using data from a previous GWAS by our group of 98 CBE patients and 526 controls of European origin. This meta-analysis also implicated the 5q11.1 locus in CBE risk. A total of 138 markers at this locus reached genome-wide significance in the meta-analysis, and the most significant marker (rs9291768) achieved a P value of 2.13 × 10-12. No other locus in the meta-analysis achieved genome-wide significance. We then performed murine expression analyses to follow up this finding. Here, Isl1 expression was detected in the genital region within the critical time frame for human CBE development. Genital regions with Isl1 expression included the peri-cloacal mesenchyme and the urorectal septum. The present study identified the first genome-wide significant locus for CBE at chromosomal region 5q11.1, and provides strong evidence for the hypothesis that ISL1 is the responsible candidate gene in this region.


Asunto(s)
Extrofia de la Vejiga/genética , Estudio de Asociación del Genoma Completo , Proteínas con Homeodominio LIM/genética , Factores de Transcripción/genética , Animales , Estudios de Casos y Controles , Humanos , Proteínas con Homeodominio LIM/metabolismo , Ratones , Factores de Transcripción/metabolismo
12.
J Stroke Cerebrovasc Dis ; 27(5): 1343-1349, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-29395641

RESUMEN

BACKGROUND: Intravenous thrombolysis with recombinant tissue plasminogen activator is still not approved by the European Medicines Agency for patients with diabetes mellitus and previous stroke. We assessed functional benefit and potential risk of thrombolysis in patients with diabetes and previous stroke and the influence of age, preexisting diabetic damage, as well as acute and chronic hyperglycemia on outcome, symptomatic intracranial hemorrhage, and in-hospital mortality. METHODS: We analyzed 527 consecutive patients treated with thrombolysis for acute stroke. Poor outcome was defined as deterioration of prestroke modified Rankin Scale (mRS) to 3 or greater at discharge. Symptomatic intracranial hemorrhage was defined according to the Safe Implementation of Thrombolysis in Stroke-Monitoring Study criteria. RESULTS: Of the patients, 35.9% were diabetic and 33.2% had previous stroke. Of these patients, 14.4% were diabetics with previous stroke (index group). The rate of patients with poor functional outcome at discharge, symptomatic intracranial hemorrhage, or mortality did not differ between the index group and patients with either diabetes or previous stroke in 2 × 2 comparisons. Diabetics with first-ever stroke showed significantly more symptomatic intracranial hemorrhage (9.7%, P < .001) than the other groups, poorer functional recovery (P = .036), and the highest rate of mortality (12.4%, P < .001). Significant predictors for poor outcome were age (P < .001) and HbA1c (P = .013), for symptomatic intracranial hemorrhage HbA1c (P = .006) and for mortality acute hyperglycemia (P = .001) and age (P = .004). CONCLUSION: Diabetics with previous stroke should not be withheld from intravenous thrombolysis. The risk of complications derives primarily from poor long-term metabolic control rather than from acute hyperglycemia or from previous stroke.


Asunto(s)
Diabetes Mellitus/epidemiología , Fibrinolíticos/administración & dosificación , Accidente Cerebrovascular/tratamiento farmacológico , Terapia Trombolítica , Activador de Tejido Plasminógeno/administración & dosificación , Administración Intravenosa , Factores de Edad , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Glucemia/metabolismo , Bases de Datos Factuales , Diabetes Mellitus/sangre , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/mortalidad , Evaluación de la Discapacidad , Femenino , Fibrinolíticos/efectos adversos , Alemania/epidemiología , Hemoglobina Glucada/metabolismo , Humanos , Hemorragias Intracraneales/inducido químicamente , Masculino , Persona de Mediana Edad , Recuperación de la Función , Recurrencia , Estudios Retrospectivos , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/mortalidad , Accidente Cerebrovascular/fisiopatología , Terapia Trombolítica/efectos adversos , Terapia Trombolítica/mortalidad , Factores de Tiempo , Activador de Tejido Plasminógeno/efectos adversos , Resultado del Tratamiento
13.
Int J Neurosci ; 127(5): 421-426, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-27180832

RESUMEN

PURPOSE: Specialized electroencephalography (EEG) methods have been used to provide clues about stroke features and prognosis. However, the value of routine EEG in stroke patients without (suspected) seizures has been somewhat neglected. We aimed to assess this in a group of acute ischemic stroke patients in regard to short-term prognosis and basic stroke features. METHODS: We assessed routine (10-20) EEG findings in 69 consecutive acute ischemic stroke patients without seizures. Associations between EEG abnormalities and NIHSS scores, clinical improvement or deterioration as well as MRI stroke characteristics were evaluated. RESULTS: Mean age was 69 ± 18 years, 43 of the patients (62.3%) were men. Abnormal EEG was found in 40 patients (58%) and was associated with higher age (p = 0.021). The most common EEG pathology was focal slowing (30; 43.5%). No epileptiform potentials were found. Abnormal EEG in general and generalized or focal slowing in particular was significantly associated with higher NIHSS score on admission and discharge as well as with hemorrhagic transformation of the ischemic lesion. Abnormal EEG and generalized (but not focal) slowing were associated with clinical deterioration ( p = 0.036, p = 0.003). Patients with lacunar strokes had no EEG abnormalities. CONCLUSIONS: Abnormal EEG in general and generalized slowing in particular are associated with clinical deterioration after acute ischemic stroke. The study demonstrates the value of routine EEG as a simple diagnostic tool in the evaluation of stroke patients especially with regard to short-term prognosis.


Asunto(s)
Electroencefalografía/métodos , Convulsiones , Accidente Cerebrovascular/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/complicaciones , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Convulsiones/complicaciones , Convulsiones/diagnóstico por imagen , Convulsiones/fisiopatología , Índice de Severidad de la Enfermedad , Accidente Cerebrovascular/etiología , Adulto Joven
14.
Hum Mol Genet ; 23(20): 5536-44, 2014 Oct 15.
Artículo en Inglés | MEDLINE | ID: mdl-24852367

RESUMEN

Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near SALL1, showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery: P = 8.88 × 10(-5); follow-up: P = 0.0025; combined: 1.09 × 10(-6)) in a highly conserved 32 kb intergenic region containing regulatory elements between WNT3 and WNT9B. Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for WNT3 and WNT9B in a sample that was enriched for non-CBE BEEC cases (P = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.


Asunto(s)
Extrofia de la Vejiga/genética , Proteínas Wnt/genética , Proteínas Wnt/metabolismo , Proteína Wnt3/genética , Proteína Wnt3/metabolismo , Animales , Secuencia de Bases , Extrofia de la Vejiga/patología , Estudios de Casos y Controles , Secuencia Conservada , Predisposición Genética a la Enfermedad , Genitales/embriología , Genitales/metabolismo , Estudio de Asociación del Genoma Completo , Humanos , Ratones , Polimorfismo de Nucleótido Simple , Factores de Transcripción/genética , Población Blanca/genética
15.
BMC Med Genet ; 17(1): 35, 2016 04 30.
Artículo en Inglés | MEDLINE | ID: mdl-27138190

RESUMEN

BACKGROUND: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology. METHODS: To detect further CNVs, array analysis was performed in 169 BEEC patients. Prior to inclusion, 22q11.21 duplications were excluded using multiplex ligation-dependent probe amplification. RESULTS: Following the application of stringent filter criteria, seven rare CNVs were identified: n = 4, not present in 1307 in-house controls; n = 3, frequency of <0.002 in controls. These CNVs ranged from 1 to 6.08 Mb in size. To identify smaller CNVs, relaxed filter criteria used in the detection of previously reported BEEC associated chromosomal regions were applied. This resulted in the identification of six additional rare CNVs: n = 4, not present in 1307 in-house controls; n = 2, frequency <0.0008 in controls. These CNVs ranged from 0.03-0.08 Mb in size. For 10 of these 13 CNVs, confirmation and segregation analyses were performed (5 of maternal origin; 5 of paternal origin). Interestingly, one female with classic bladder extrophy carried a 1.18 Mb duplication of 22q11.1, a chromosomal region that is associated with cat eye syndrome. CONCLUSIONS: A number of rare CNVs were identified in BEEC patients, and these represent candidates for further evaluation. Rare inherited CNVs may constitute modifiers of, or contributors to, multifactorial BEEC phenotypes.


Asunto(s)
Extrofia de la Vejiga/genética , Análisis Citogenético/métodos , Variaciones en el Número de Copia de ADN , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Aneuploidia , Trastornos de los Cromosomas/genética , Duplicación Cromosómica , Cromosomas Humanos Par 22/genética , Anomalías del Ojo/genética , Femenino , Humanos , Masculino , Herencia Materna , Herencia Paterna
16.
Mult Scler ; 22(8): 1040-7, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-26453681

RESUMEN

BACKGROUND: Advanced magnetic resonance imaging (MRI) techniques provide a window into pathological processes in multiple sclerosis (MS). Nevertheless, to date only few studies have performed sodium MRI in MS. OBJECTIVES: We analysed total sodium concentration (TSC) in hyperacute, acute and chronic lesions in MS with (23)Na MRI. METHODS: (23)Na MRI and (1)H MRI were performed in 65 MS patients and 10 healthy controls (HC). Mean TSC was quantified in all MS lesions with a diameter of >5 mm and in the normal appearing white and grey matter (NAWM, NAGM). RESULTS: TSC in the NAWM and the NAGM of MS patients was significantly higher compared to HC (WM: 37.51 ± 2.65 mM versus 35.17 ± 3.40 mM; GM: 43.64 ± 2.75 mM versus 40.09 ± 4.64 mM). Acute and chronic MS lesions showed elevated TSC levels of different extent (contrast-enhancing lesions (49.07 ± 6.99 mM), T1 hypointense lesions (45.06 ± 6.26 mM) and remaining T1 isointense lesions (39.88 ± 5.54 mM)). However, non-enhancing hyperacute lesions with a reduced apparent diffusion coefficient showed a TSC comparable to the NAWM (37.22 ± 4.62 mM). CONCLUSIONS: TSC is not only a sensitive marker of the severity of chronic tissue abnormalities in MS but is also highly sensitive to opening of the blood-brain barrier and vasogenic tissue oedema in contrast-enhancing lesions.


Asunto(s)
Imagen de Difusión por Resonancia Magnética/métodos , Sustancia Gris/diagnóstico por imagen , Esclerosis Múltiple/diagnóstico por imagen , Isótopos de Sodio/metabolismo , Sustancia Blanca/diagnóstico por imagen , Adolescente , Adulto , Estudios de Casos y Controles , Medios de Contraste/administración & dosificación , Estudios Transversales , Femenino , Sustancia Gris/metabolismo , Sustancia Gris/patología , Humanos , Masculino , Persona de Mediana Edad , Esclerosis Múltiple/metabolismo , Esclerosis Múltiple/patología , Valor Predictivo de las Pruebas , Isótopos de Sodio/administración & dosificación , Sustancia Blanca/metabolismo , Sustancia Blanca/patología , Adulto Joven
17.
J Neural Transm (Vienna) ; 123(3): 261-7, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26296627

RESUMEN

In patients with Parkinson's disease, significant weight gain following chronic deep brain stimulation (DBS) has been reported. Recently, relevant weight gain could be demonstrated also following subthalamic nucleus DBS in patients with primary cervical dystonia. Prospective analyses of body weight changes following DBS in patients with dystonia, however, have not been published so far. We aimed to analyse the changes of body weight following DBS in patients with dystonia. The body mass index (BMI) of 17 consecutive patients with segmental or generalised dystonia (mean age 54.6 ± 16.1 years) treated with bilateral DBS of the globus pallidus internus (GPi) (n = 14) or the thalamic ventral intermediate nucleus (n = 3) was measured preoperatively (pre-OP) and at three follow-up (FU) time points post-DBS surgery (FU1 = 7 months, FU2 = 17 months, FU3 = 72 months). All patients benefited from marked improvement in their dystonia. The mean BMI pre-OP (SD) was 22.5 (±3.7) kg/m(2) and increased stepwise to 24.0 (±3.3) kg/m(2) at FU1, 24.4 (±3.7) kg/m(2) at FU2 and 24.9 (±3.7) kg/m(2) at FU3 (p < 0.05 at all three FUs compared to pre-OP). Relative BMI increase and improvement of dystonia were correlated (p = 0.025). Chronic bilateral GPi DBS in patients with dystonia is associated with significant body weight gain, in particular during the first 6 months post-OP. This probably is a result of improvement of dystonic motor symptoms and recovery of eating dysfunction rather than a target-specific phenomenon.


Asunto(s)
Estimulación Encefálica Profunda , Distonía/terapia , Aumento de Peso , Anciano , Índice de Masa Corporal , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos
18.
Cerebrovasc Dis ; 42(3-4): 240-6, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27173490

RESUMEN

BACKGROUND: Body weight and body mass index (BMI) are regularly assessed factors in stroke patients for manifold reasons. However, their potential role specifically in intravenous thrombolysis has not been thoroughly examined. METHODS: Data from 865 consecutive acute ischemic stroke patients treated with intravenous thrombolysis were analyzed. Patients were divided into different BMI categories (underweight, normal weight, overweight, obese) and compared based on the following factors: time window of treatment, clinical scores National Institute of Health Stroke Scale Score (NIHSS), modified Rankin scale (mRS) on admission and discharge, risk factors, stroke characteristics and thrombolysis complications. Recombinant tissue plasminogen activator (rtPA) doses relative to body weight and blood volume were also assessed. In a separate analysis, patients weighing up to 100 and >100 kg were compared. RESULTS: Eighteen patients (2.1%) were underweight, 336 (38.8%) overweight, 194 (22.4%) obese and 317 (36.7%) had normal weight. Higher BMI category was associated with younger age, thrombolytic treatment later than 4.5 h, arterial hypertension, diabetes and higher relative rtPA dose relative to blood volume (p < 0.001). There were no significant differences concerning NIHSS and mRS scores or thrombolysis complications. Forty-six patients (5.3%) weighed over 100 kg. They were younger (p = 0.002) and treated later than patients under 100 kg (p < 0.001). Mean rtPA dose relative to body weight and to blood volume was significantly lower (0.7 vs. 0.9 mg/kg, p < 0.001 and 13 vs. 13.9 mg/l, p < 0.001). There was a marginal difference in NIHSS score improvement ≥4 points (26.1 vs. 40.2%, p = 0.038); otherwise, no outcome differences were found. CONCLUSION: BMI category does not significantly influence clinical outcome after thrombolysis. However, relevant NIHSS improvement was found more often in patients weighing up to 100 kg compared to those over 100 kg. Interestingly, patients with higher BMI or weight >100 kg were thrombolysed later than other patients.


Asunto(s)
Índice de Masa Corporal , Isquemia Encefálica/tratamiento farmacológico , Fibrinolíticos/administración & dosificación , Accidente Cerebrovascular/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Isquemia Encefálica/diagnóstico , Isquemia Encefálica/fisiopatología , Evaluación de la Discapacidad , Femenino , Fibrinolíticos/efectos adversos , Humanos , Infusiones Intravenosas , Masculino , Persona de Mediana Edad , Factores de Riesgo , Accidente Cerebrovascular/diagnóstico , Accidente Cerebrovascular/fisiopatología , Terapia Trombolítica/efectos adversos , Resultado del Tratamiento
19.
Eur Neurol ; 76(5-6): 295-301, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27806359

RESUMEN

BACKGROUND: The impact of recurrent stroke has been extensively addressed with regard to ischemic stroke, revealing potentially different etiologies of recurrent events in the individual patient. In contrast, data on recurrent intracerebral hemorrhage (ICH) are scarce, especially considering etiologic characterization. We aimed to determine the etiology of recurrent ICH at each event to identify potential etiologic changes. PATIENTS AND METHODS: We analyzed the data of patients admitted to our stroke unit with recurrent ICH between 1998 and 2014 with regard to clinical characteristics and etiology. RESULTS: Thirty-three patients (2.6%) with recurrent ICH were identified. Mean age (mean ± SD) at the initial event was 69 ± 9 and 72 ± 9 years at recurrence. Median interval between events was 18 months. Mean National Institutes of Health Stroke Scale (first/second event) was 4/9 at admission and 2/8 at discharge. Over 30% of patients developed symptomatic epilepsy. Etiologic distribution was (first/second event) the following: probable cerebral amyloid angiopathy (CAA) (12/20), possible CAA (3/0), hypertensive (5/4), anticoagulation (4/3), vascular malformation (2/4), ischemia with secondary hemorrhage (4/0), vasculitis (0/1), undetermined (4/0). CONCLUSIONS: Recurrent ICH is rare, CAA being its most common etiology. Etiology of ICH may differ between the first/second event in about 10%. The findings indicate the need of a complete and distinct work-up including MRI in every instance of ICH recurrence.


Asunto(s)
Hemorragia Cerebral/etiología , Anciano , Anciano de 80 o más Años , Angiopatía Amiloide Cerebral/complicaciones , Infarto Cerebral/complicaciones , Femenino , Humanos , Hipertensión/complicaciones , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Recurrencia , Accidente Cerebrovascular/complicaciones
20.
Eur Neurol ; 75(3-4): 170-7, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27031948

RESUMEN

BACKGROUND: Acute stroke is a medical emergency with various clinical presentations. Since the introduction of systemic thrombolytic treatment, stroke diagnosis has been made quickly and with great caution, and the trend of rapid presentation at hospitals has increased. METHODS: In our multidisciplinary Emergency Department, we prospectively collected and analysed data of consecutive patients presenting with suspected acute stroke (SAS) or transient ischemic attack (TIA). RESULTS: Four hundred ten patients (200 men, mean age 68 ± 16, range 17-93 years) with SAS were admitted of which 105 were prehospitally announced as within the time-window for thrombolytic treatment (TW). Diagnosis of acute stroke/TIA was retained in 147 (35.9%). The initially reported TW <4.5 h was wrong in 35.3%. Thrombolysis was performed in 27 patients (23.5% of ischemic stroke patients; 6.6% of all SAS). Diagnosis of another neurologic disease was made in 62 (15.1%). Major differential diagnoses came from the field of internal medicine, psychiatry or otorhinolaryngology. One hundred fifty patients (36.6%) were rapidly discharged. CONCLUSION: About half the number of our patients admitted for SAS did not suffer from an acute neurologic disease. Residual symptoms post-stroke might be partly responsible for initial misinterpretation. The crucial difference between symptom onset and symptom recognition needs to be emphasized to improve the prehospital assessment of the TW.


Asunto(s)
Servicio de Urgencia en Hospital/estadística & datos numéricos , Ataque Isquémico Transitorio/diagnóstico , Accidente Cerebrovascular/diagnóstico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Adulto Joven
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