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2.
Eur J Paediatr Neurol ; 47: 118-130, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-38284996

RESUMEN

BACKGROUND: Acute cerebellitis (AC) in children and adolescents is an inflammatory disease of the cerebellum due to viral or bacterial infections but also autoimmune-mediated processes. OBJECTIVE: To investigate the frequency of autoantibodies in serum and CSF as well as the neuroradiological features in children with AC. MATERIAL AND METHODS: Children presenting with symptoms suggestive of AC defined as acute/subacute onset of cerebellar symptoms and MRI evidence of cerebellar inflammation or additional CSF pleocytosis, positive oligoclonal bands (OCBs), and/or presence of autoantibodies in case of negative cerebellar MRI. Children fulfilling the above-mentioned criteria and a complete data set including clinical presentation, CSF studies, testing for neuronal/cerebellar and MOG antibodies as well as MRI scans performed at disease onset were eligible for this retrospective multicenter study. RESULTS: 36 patients fulfilled the inclusion criteria for AC (f:m = 14:22, median age 5.5 years). Ataxia was the most common cerebellar symptom present in 30/36 (83 %) in addition to dysmetria (15/36) or dysarthria (13/36). A substantial number of children (21/36) also had signs of encephalitis such as somnolence or seizures. In 10/36 (28 %) children the following autoantibodies (abs) were found: MOG-abs (n = 5) in serum, GFAPα-abs (n = 1) in CSF, GlyR-abs (n = 1) in CSF, mGluR1-abs (n = 1) in CSF and serum. In two further children, antibodies were detected only in serum (GlyR-abs, n = 1; GFAPα-abs, n = 1). MRI signal alterations in cerebellum were found in 30/36 children (83 %). Additional supra- and/or infratentorial lesions were present in 12/36 children, including all five children with MOG-abs. Outcome after a median follow-up of 3 months (range: 1 a 75) was favorable with an mRS ≤2 in 24/36 (67 %) after therapy. Antibody (ab)-positive children were significantly more likely to have a better outcome than ab-negative children (p = .022). CONCLUSION: In nearly 30 % of children in our study with AC, a range of abs was found, underscoring that autoantibody testing in serum and CSF should be included in the work-up of a child with suspected AC. The detection of MOG-abs in AC does expand the MOGAD spectrum.


Asunto(s)
Autoanticuerpos , Encefalitis , Adolescente , Niño , Preescolar , Humanos , Ataxia , Cerebelo/diagnóstico por imagen , Encefalitis/diagnóstico por imagen , Inflamación , Estudios Retrospectivos
4.
Eur J Paediatr Dent ; 17(3): 181-187, 2016 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-27759405

RESUMEN

AIM: To evaluate the correlation between clinical and salivary microbial parameters during treatment with removable orthodontic appliances with or without use of fluoride mouth rinse. MATERIALS AND METHODS: A group of 48 patients completed this randomized, controlled, parallel-group, clinical pilot study. 24 patients of the test group (TG) rinsed after tooth brushing with a fluoride mouth rinse (100 ppm AmF/150 ppm NaF) while 21 patients of the control group (CG) did not. Clinical parameters [Approximal Plaque Index (API), Papillary Bleeding Index (PBI)] as well as levels of salivary mutans streptococci (MS) and lactobacilli (LB) were assessed at baseline and after 3, 6, 9 and 12 months. Compliance was documented by participants. Appliance wear-times were estimated retrospectively by the patients. All participants received the same brushing instructions and were supplied with the same toothbrush/toothpaste. RESULTS: A significant correlation of API values with MS levels (p=0.0003) or with LB levels (p=0.001) was observed. Furthermore, appliance wear-times were significantly associated with API values (p=0.02). The changes of MS or LB levels between beginning and end of the study did not differ significantly between study groups. The changes of the API scores showed slightly different median values (-3.5 in the TG vs. 0 in the CG), the difference, however, was not significant. CONCLUSIONS: The results emphasise the need for a careful monitoring of the oral hygiene status in patients with removable orthodontic appliances. Larger controlled clinical trials are necessary to investigate treatment options such as use of supplementary fluoride mouth rinse.


Asunto(s)
Cariostáticos/uso terapéutico , Fluoruros/uso terapéutico , Antisépticos Bucales/uso terapéutico , Aparatos Ortodóncicos Removibles , Saliva/microbiología , Carga Bacteriana/efectos de los fármacos , Índice de Placa Dental , Femenino , Fluoruros Tópicos/uso terapéutico , Estudios de Seguimiento , Humanos , Lactobacillus/efectos de los fármacos , Lactobacillus/aislamiento & purificación , Masculino , Higiene Bucal/educación , Aparatos Ortodóncicos Removibles/microbiología , Cooperación del Paciente , Índice Periodontal , Proyectos Piloto , Estudios Retrospectivos , Fluoruro de Sodio/uso terapéutico , Streptococcus mutans/efectos de los fármacos , Streptococcus mutans/aislamiento & purificación , Cepillado Dental/instrumentación , Cepillado Dental/métodos
5.
Mult Scler ; 19(8): 1052-9, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23257621

RESUMEN

BACKGROUND: Recently we showed that antibodies to myelin oligodendrocyte glycoprotein (MOG) can be found in aquaporin-4 (AQP4)-immunoglobulin (IgG) seronegative pediatric and adult patients with definite and high-risk neuromyelitis optica (NMO). OBJECTIVE: The purpose of this study was to describe the clinical characteristics and temporal dynamics of MOG-IgG in AQP4-IgG seronegative pediatric patients presenting with definite NMO. METHODS: Children with definite NMO who were referred for further testing of serum antibodies for AQP4 and MOG with a cell-based assay were included in this study. Clinical disease course, cerebrospinal fluid and magnetic resonance imaging (MRI) studies of these patients were reviewed. RESULTS: Between 2008 and 2012 eight children who fulfilled the diagnostic criteria of definite NMO were recruited. Two children with definite NMO tested positive for AQP4-IgG but were negative for MOG-IgG antibodies. Three children had an absence of AQP4-IgG and MOG-IgG antibodies. Three children with definite NMO had high titers of serum MOG-IgG antibodies (≥1: 160), but no AQP4-directed humoral immune response. Longitudinal analysis of serum samples of the latter three children showed persisting high MOG-IgG titers over time. CONCLUSION: Pediatric patients presenting with clinical symptoms and MRI findings highly suggestive of NMO but with high and persisting MOG-IgG antibody titers are most likely to represent a distinct subgroup of acute demyelinating diseases with important clinical and therapeutic implications.


Asunto(s)
Autoanticuerpos/sangre , Glicoproteína Mielina-Oligodendrócito/inmunología , Neuromielitis Óptica/sangre , Neuromielitis Óptica/inmunología , Adolescente , Adulto , Acuaporina 4/inmunología , Autoanticuerpos/inmunología , Autoantígenos/inmunología , Niño , Femenino , Humanos , Inmunoglobulina G/inmunología , Imagen por Resonancia Magnética , Masculino
6.
Cell Microbiol ; 13(5): 742-51, 2011 May.
Artículo en Inglés | MEDLINE | ID: mdl-21496196

RESUMEN

We present a novel organ-explant imaging system for easy and cost-effective extended-time observation of host-pathogen interactions at mucosal interfaces. Data are complemented by parallel cytokine measurements at high temporal resolution. The set-up is based on a custom-built reusable organ chamber compatible with standard microscopes. Luminal and basal side of the explanted mucosa are connected to separate channels for optimized incubation and cytokine measurements, oxygen is provided via membrane oxygenation. Dynamic imaging with confocal microscopy permits a detailed analysis of the dynamics of pathogen-host cell interactions at the mucosal interface and the neighbouring tissue at high resolution. The system can be applied to various hollow organs with few modifications. Here we present first applications to study representative infections such as uropathogenic Escherichia coli (UPEC) infections in the urinary bladder or amoebiasis of the colon by using mouse organs. We show (i) intracellular bacteria in UPEC infections, (ii) phagocytic events on tissue during infection, as well as (iii) tissue invasion of virulent protozoans into epithelia. The versatility of this system and its higher degree of control in comparison with both traditional explant microscopy and in vivo two photon imaging solutions make it a valuable and easy-to-use addition to other current imaging techniques.


Asunto(s)
Citocinas/análisis , Diagnóstico por Imagen/métodos , Interacciones Huésped-Patógeno , Microscopía Confocal/métodos , Membrana Mucosa/química , Membrana Mucosa/microbiología , Animales , Entamoeba histolytica/fisiología , Escherichia coli/fisiología , Infecciones por Escherichia coli/microbiología , Ratones , Ratones Endogámicos C57BL , Microscopía Confocal/instrumentación , Técnicas de Cultivo de Órganos , Fagocitosis
7.
Osteoporos Int ; 22(11): 2879-86, 2011 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-21104230

RESUMEN

UNLABELLED: In a cohort study, bone mineral density (BMD) around uncemented femoral components after total hip arthroplasty (THA) was evaluated. The results suggest that there are no clinically relevant changes in overall periprosthetic BMD in the second decade. However, continuous remodeling with limited proximal bone loss (stress-shielding) occurs, predominantly in female patients. INTRODUCTION: Progressive periprosthetic bone loss and stress-shielding are a major concern in THA. Little is known about the extent and pattern of periprosthetic bone remodeling around uncemented stems in the second decade. METHODS: In a cohort study, periprosthetic BMD was measured in 131 patients with 146 uncemented CLS stems using dual-energy X-ray absorptiometry (DXA) at a mean of 12 years postoperatively (t1). Patients were followed clinically and radiographically, and a second DXA was performed at a mean of 17 years postoperatively (t2) using the identical protocol. RESULTS: We obtained a complete set of two consecutive DXA measurements for 88 hips (78 patients, 35 male, 43 female). On radiographic evaluation at t1 and t2, regular bone ongrowth was present in all cases and no signs of radiographic loosening, severe bone loss or diaphyseal cortical hypertrophy were detected. There was no clinically relevant change in overall periprosthetic BMD (netavg) between t1 and t2 for both male and female patients. We analyzed the differences in BMD in the periprosthetic regions of interest (ROIs) according to Gruen and found a slight decrease in periprosthetic BMD in ROI 7 in male patients and in ROIs 1, 4, 6 and 7 in female patients. CONCLUSIONS: The study suggests that there are no clinically relevant changes in overall periprosthetic BMD around stable, straight uncemented stems between 12 and 17 years postoperatively. However, continuous remodeling with limited proximal bone loss occurs, predominantly in female patients. After secondary osteointegration of this implant, stress-shielding remains minimal in the second decade.


Asunto(s)
Artroplastia de Reemplazo de Cadera/métodos , Densidad Ósea/fisiología , Remodelación Ósea/fisiología , Resorción Ósea/diagnóstico por imagen , Articulación de la Cadera/diagnóstico por imagen , Absorciometría de Fotón , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Articulación de la Cadera/cirugía , Prótesis de Cadera , Humanos , Masculino , Persona de Mediana Edad , Diseño de Prótesis , Falla de Prótesis , Factores de Tiempo , Titanio , Adulto Joven
8.
Minerva Anestesiol ; 76(7): 491-9, 2010 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-20613689

RESUMEN

AIM: Anesthetic preoperative evaluation clinics (APECs) are relatively new institutions. Although cost effective, APECs have not been universally adopted in Europe. The aim of this study was to compare preoperative anesthetic assessment in wards with an APEC, assessing time, information gain, patient satisfaction and secondary costs. METHODS: Two hundred and seven inpatients were randomized to be assessed at the APEC or on the ward by the same two senior anesthetists. The outcomes measured were the length of time for each consultation, the amount of information passed on to patients and the level of patient satisfaction. The consultation time was used to calculate impact on direct costs. A multivariate analysis was conducted to detect confounding variables. RESULTS: Ninety-four patients were seen in the APEC, and 78 were seen on the ward. The total time for the consultation was shorter for the APEC (mean 8.4 minutes [P<0.01]), and we calculated savings of 6.4 Euro per patient. More information was passed on to the patients seen in the APEC (P<0.01). The general satisfaction scores were comparable between groups. A multivariate analysis found that the consultation time was significantly influenced by the type of anesthesia, the magnitude of the operation and the location of the consultation. Gain in information was significantly influenced by age, education and the location of the visit. CONCLUSION: The APEC reduced consultation times and costs and had a positive impact on patient education. The cost savings are related to personnel costs and, therefore, are independent of other potential savings of an APEC, whereas global patient satisfaction remains unaltered.


Asunto(s)
Anestesia , Costos Directos de Servicios , Educación del Paciente como Asunto , Satisfacción del Paciente , Cuidados Preoperatorios/economía , Cuidados Preoperatorios/normas , Femenino , Departamentos de Hospitales , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Tiempo
9.
J Inherit Metab Dis ; 32(3): 371-80, 2009 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-19172410

RESUMEN

BACKGROUND: Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of biogenic amine metabolism resulting in generalized combined deficiency of serotonin, dopamine and catecholamines. Main clinical features are developmental delay, muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Response to therapy has been variable and unsatisfactory; the overall prognosis is guarded. METHODS: To gain more insight into this rare disorder we collected clinical and laboratory data of nine German patients. All patients were clinically examined by one investigator, and their responses to different drug regimes were evaluated by the patients' charts. RESULTS: Symptoms were obvious from early infancy. Later, main neurological features were truncal muscular hypotonia, hypokinesia, oculogyric crises and rigor. Three patients had single seizures. All patients presented distinct extraneurological symptoms, such as hypersalivation, hyperhidrosis, nasal congestion, sleep disturbances and hypoglycaemia. In CSF all patients revealed the pattern typical of AADC with decreased concentrations of homovanillic and 5-hydroxyindoleacetic acid and elevated concentration of 3-ortho-methyldopa. Diagnosis was confirmed by measurement of AADC activity in plasma in all patients. Drug regimes consisted of vitamin B6, dopamine agonists, MAO inhibitors and anticholinergics in different combinations. No patient achieved a complete recovery from neurological symptoms, but partial improvement of mobility and mood could be achieved in some. CONCLUSION: AADC deficiency is a severe neurometabolic disorder, characterized by muscular hypotonia, dystonia, oculogyric crises and additional extraneurological symptoms. Medical treatment is challenging, but a systematic trial of the different drugs is worthwhile.


Asunto(s)
Antiparkinsonianos/administración & dosificación , Descarboxilasas de Aminoácido-L-Aromático/deficiencia , Encefalopatías Metabólicas Innatas/diagnóstico , Encefalopatías Metabólicas Innatas/tratamiento farmacológico , Adolescente , Adulto , Descarboxilasas de Aminoácido-L-Aromático/genética , Encéfalo/diagnóstico por imagen , Encefalopatías Metabólicas Innatas/diagnóstico por imagen , Niño , Preescolar , Antagonistas Colinérgicos/administración & dosificación , Agonistas de Dopamina/administración & dosificación , Combinación de Medicamentos , Femenino , Estudios de Seguimiento , Humanos , Lactante , Levodopa/administración & dosificación , Masculino , Modelos Biológicos , Inhibidores de la Monoaminooxidasa/administración & dosificación , Radiografía , Estudios Retrospectivos , Inhibidores Selectivos de la Recaptación de Serotonina/administración & dosificación , Vitamina B 6/administración & dosificación , Adulto Joven
10.
Orthopade ; 37(9): 904, 906-13, 2008 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-18685826

RESUMEN

BACKGROUND: Acetabular revision in total hip arthroplasty (THA), especially for loose or migrated cup components with collateral bone loss, remains a great surgical challenge. The aim should always be a functionally favorable reconstruction of the rotation center with sufficient load capacity of the acetabulum. Commonly used implants in Europe are the Mueller ring, the Ganz ring, and the Burch-Schneider cage. PATIENTS AND METHODS: We report our results of 298 patients (298 hips) with a median follow-up period of 4 (range 0-17) years in a retrospective series. RESULTS: Follow-up data were available in 224 cases (75%). A radiographic examination was performed in 176 (59%) patients. Another 54 patients (18%) had died in the follow-up period, while another three patients (1%) were lost to follow-up. Eighteen patients (16%) underwent re-revision, in nine cases for aseptic loosening and in the remaining nine cases for infection. In seven additional cases (2%), radiological and clinical failure was found during follow-up. The overall survival rate was 94% at 5 years and 89% at 8 years. CONCLUSION: Revision THA using acetabular reinforcement rings results in acceptable midterm results. However, septic complications and lysis of the bone graft with consecutive failure of the reinforcement ring remain problematic.


Asunto(s)
Acetábulo/cirugía , Artroplastia de Reemplazo de Cadera/instrumentación , Complicaciones Posoperatorias/cirugía , Falla de Prótesis , Acetábulo/diagnóstico por imagen , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/diagnóstico por imagen , Diseño de Prótesis , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Infecciones Relacionadas con Prótesis/cirugía , Radiografía , Reoperación
11.
Disabil Rehabil ; 30(14): 999-1013, 2008.
Artículo en Inglés | MEDLINE | ID: mdl-18584376

RESUMEN

PURPOSE: The influence of vibration-induced white finger disease on the quality of life and possible social consequences is the subject of the study presented herein. METHOD: The data acquisition was carried out by means of a standardized questionnaire. Parameters such as quality of life, professional practice, prevention and social security were assessed among other things. RESULTS: Nearly three quarters of the interviewees (n = 115) did not consult a physician with the occurrence of the first complaints. Physicians frequently made the correct diagnosis only with delay. From the first occurrence of symptoms to the acknowledgment as an occupational disease 0.5-34.5 years had usually elapsed. The quality of life affected the patients and their families. Change of profession and unemployment were frequently associated with substantial problems. There is clear need for information regarding the clinical picture, protective possibilities in the workplace, recognition as an occupational disease and financial problems. The introduction of industrial safety measures was not substantially affected by the occurrence of the disease. CONCLUSIONS: A quick diagnosis and the recognition of this occupational disease are important in view of its potential reversibility upon discontinuation of the exposition to vibration. As a consequence, intensified preventive measures need to be called for.


Asunto(s)
Síndrome por Vibración de la Mano y el Brazo/epidemiología , Síndrome por Vibración de la Mano y el Brazo/psicología , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Alemania/epidemiología , Síndrome por Vibración de la Mano y el Brazo/economía , Humanos , Seguro , Masculino , Persona de Mediana Edad , Salud Laboral , Educación del Paciente como Asunto , Calidad de Vida , Encuestas y Cuestionarios , Desempleo
12.
Br J Cancer ; 97(9): 1271-6, 2007 Nov 05.
Artículo en Inglés | MEDLINE | ID: mdl-17968430

RESUMEN

The antiapoptotic Livin/ML-IAP gene has recently gained much attention as a potential new target for cancer therapy. Reports indicating that livin is expressed almost exclusively in tumours, but not in the corresponding normal tissue, suggested that the targeted inhibition of livin may present a novel tumour-specific therapeutic strategy. Here, we compared the expression of livin in renal cell carcinoma and in non-tumorous adult kidney tissue by quantitative real-time reverse transcription-PCR, immunoblotting, and immunohistochemistry. We found that livin expression was significantly increased in tumours (P=0.0077), but was also clearly detectable in non-tumorous adult kidney. Transcripts encoding Livin isoforms alpha and beta were found in both renal cell carcinoma and normal tissue, without obvious qualitative differences. Livin protein in renal cell carcinoma samples exhibited cytoplasmic and/or nuclear staining. In non-tumorous kidney tissue, Livin protein expression was only detectable in specific cell types and restricted to the cytoplasm. Thus, whereas the relative overexpression of livin in renal cell carcinoma indicates that it may still represent a therapeutic target to increase the apoptotic sensitivity of kidney cancer cells, this strategy is likely to be not tumour-specific.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/genética , Apoptosis , Biomarcadores de Tumor/genética , Carcinoma de Células Renales/genética , Regulación Neoplásica de la Expresión Génica , Proteínas Inhibidoras de la Apoptosis/genética , Neoplasias Renales/genética , Riñón/metabolismo , Proteínas de Neoplasias/genética , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Biomarcadores de Tumor/metabolismo , Carcinoma de Células Renales/metabolismo , Humanos , Técnicas para Inmunoenzimas , Proteínas Inhibidoras de la Apoptosis/metabolismo , Neoplasias Renales/metabolismo , Proteínas de Neoplasias/metabolismo , ARN Neoplásico/genética , ARN Neoplásico/metabolismo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa
13.
Strabismus ; 15(1): 39-43, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17523045

RESUMEN

AIM: To evaluate the usability and reliability of three different visual acuity (VA) testing procedures using Landolt C's in 8 positions with a semi-automated computer program in school children. METHODS: 100 school children (median 7 years, 59 boys and 41 girls) were included; only the better eye was tested. We used the semi-automated computer program CORVIS.VT in a forced choice method. Three different test strategies were employed, each two times: A) DIN, B) Standard-Staircase and C) Best-PEST procedure with sequences A, B, C or A, C, B. RESULTS: Average testing time was 100 s +/- 45 (DIN), 59 s +/- 36 (Staircase) and 77 s +/- 25 (Best-PEST). The mean VA estimated with DIN was equivalent to that with the Best-PEST procedure. However, the mean VA with Standard-Staircase was one line less. In DIN, 76% of the retest scores were within 0.1 logMAR unit of the initial test score (Staircase: 72%, Best-PEST 73%). The 95% confidence interval of test-retest reliability was calculated to be -0.05 +/- 0.24 logMAR in DIN, +0.02 +/- 0.32 logMAR in Staircase, and 0.00 +/- 0.29 logMAR in Best-PEST. CONCLUSION: A high percentage of children aged 6 to 9 years (98%) can be tested with Landolt C's (8 positions). We found a decreasing test-retest reliability starting from DIN via Best-PEST to Staircase in this configuration.


Asunto(s)
Pruebas de Visión/métodos , Agudeza Visual , Niño , Computadores , Femenino , Humanos , Masculino , Variaciones Dependientes del Observador , Reproducibilidad de los Resultados
14.
Histopathology ; 48(6): 736-47, 2006 May.
Artículo en Inglés | MEDLINE | ID: mdl-16681691

RESUMEN

AIMS: To investigate whether or not there are differences in the distribution of extracellular matrix (ECM) proteins and matrix metalloproteinases (MMPs) in end-stage heart failure underlying different cardiomyopathies. METHODS AND RESULTS: Thirty-nine explanted human hearts were investigated: 15 with dilated cardiomyopathy (DCM), 17 with ischaemic cardiomyopathy (ICM) and seven with valvular cardiomyopathy (VCM). Transmural samples from four different sites were investigated. Frozen sections were processed for immunohistochemistry for collagens type I, III, IV, laminin and fibronectin, as well as MMP-1, -2 and -9. Volume densities were determined. All ECM components were expressed more frequently in DCM than in ICM. Comparing ICM with VCM, all proteins were found more frequently in VCM than in ICM except for type III collagen, which was significantly more frequent in ICM. Comparing DCM and VCM, VCM showed significantly higher volume densities for type III collagen and laminin. MMPs showed only slight variations between the cardiomyopathies. CONCLUSION: The distribution of ECM proteins differs between DCM, ICM and VCM, which suggests that they can be morphologically discriminated by interstitial fibrosis, especially by their expression of matrix proteins.


Asunto(s)
Proteínas de la Matriz Extracelular/análisis , Metaloproteinasas de la Matriz/análisis , Miocardio/patología , Adulto , Anciano , Cardiomiopatía Dilatada/metabolismo , Cardiomiopatía Dilatada/patología , Colágeno Tipo I/análisis , Colágeno Tipo III/análisis , Colágeno Tipo IV/análisis , Femenino , Fibronectinas/análisis , Fibrosis , Enfermedades de las Válvulas Cardíacas/metabolismo , Enfermedades de las Válvulas Cardíacas/patología , Humanos , Inmunohistoquímica , Laminina/análisis , Masculino , Metaloproteinasa 1 de la Matriz/análisis , Metaloproteinasa 2 de la Matriz/análisis , Metaloproteinasa 9 de la Matriz/análisis , Persona de Mediana Edad , Isquemia Miocárdica/metabolismo , Isquemia Miocárdica/patología , Miocardio/química
15.
Orthopade ; 35(7): 776-83, 2006 Jul.
Artículo en Alemán | MEDLINE | ID: mdl-16628398

RESUMEN

INTRODUCTION: So far there is only one peer-reviewed long-term publication from the inventors' clinic for the MS-30 stem. MATERIAL AND METHODS: In a retrospective study we followed the first 333 consecutive MS-30 stems. All patients with 5- to 11-year follow-up were clinically and radiographically evaluated. At the time of implantation the criteria of modern cementing techniques were not implemented. Clinical evaluation was done using the scores of Harris and Merle d'Aubigné and Postel. Radiographic evaluation included quality of the cement mantle (true lateral radiographs taken under fluoroscopy), stem subsidence, loosening signs, and the risk for pending failure. RESULTS: At follow-up 12 hips had undergone femoral revision: 3 for aseptic loosening, 6 for infection, 1 for periprosthetic fracture, and 2 for recurrent dislocation. The overall survival for all reasons at 10 years was 96.1%; survival with aseptic loosening as an end point was 99.0%. The median Harris Hip Score at follow-up was 80 (26-100) points. Radiological evaluation revealed a thin cement mantle (<2 mm) in approximately 2/3, predominantly on the lateral views (Gruen zones 8/9). One-third of all reviewed prostheses were considered at risk for pending failure, which strongly correlated with the initial quality of the cement mantle. CONCLUSION: Midterm results with the MS-30 stem are encouraging and an even better long-term outcome can be expected with a better cement technique.


Asunto(s)
Artroplastia de Reemplazo de Cadera/instrumentación , Artroplastia de Reemplazo de Cadera/estadística & datos numéricos , Cementación/estadística & datos numéricos , Procedimientos Quirúrgicos Mínimamente Invasivos/instrumentación , Procedimientos Quirúrgicos Mínimamente Invasivos/estadística & datos numéricos , Falla de Prótesis , Sistema de Registros , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Alemania/epidemiología , Articulación de la Cadera/cirugía , Humanos , Masculino , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Resultado del Tratamiento
16.
Mol Genet Metab ; 88(2): 146-52, 2006 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-16510303

RESUMEN

Fumarase (FH) deficiency is a rare autosomal recessive disease of the Krebs cycle causing severe neurological impairment in early childhood, characterized by encephalopathy with seizures and muscular hypotonia. Only a handful of patients with various recessive mutations in the FH gene have been described so far. Interestingly, autosomal dominant mutations in the same gene are associated with hereditary leiomyomatosis and renal cell cancer (HLRCC). We investigated a boy with developmental and growth delay, microcephaly, and muscular hypotonia recognized at the age of 3 months. No leiomyomatosis or renal cancer is known in the parents. Investigation of the patient's urine revealed massive fumarate excretion. FH activity was severely reduced in muscle and fibroblasts. Respirometric investigation of fibroblasts showed only modest changes indicating that fumarate mediated inhibition of enzymatic pathways other than oxidative phosphorylation might be more relevant in pathophysiology of FH deficiency. Molecular analysis revealed a known 435insK mutation on the paternal allele and a novel H275L mutation due to an A to T transversion of nucleotide 824 on the maternal allele. This mutation affects the same codon as a C to T transition of nucleotide 823, resulting in a H275Y mutation that was found in two families with HLRCC.


Asunto(s)
Fumarato Hidratasa/deficiencia , Fumarato Hidratasa/genética , Errores Innatos del Metabolismo/genética , Errores Innatos del Metabolismo/metabolismo , Sustitución de Aminoácidos , Respiración de la Célula , Preescolar , Resultado Fatal , Fumarato Hidratasa/química , Fumarato Hidratasa/metabolismo , Fumaratos/orina , Heterocigoto , Humanos , Lactante , Recién Nacido , Lisina , Masculino , Mitocondrias/enzimología , Mitocondrias/metabolismo , Modelos Moleculares , Hipotonía Muscular , Músculo Esquelético/enzimología , Mutación , Trastornos Psicomotores/genética , Trastornos Psicomotores/metabolismo
17.
Klin Padiatr ; 218(2): 79-84, 2006.
Artículo en Alemán | MEDLINE | ID: mdl-16506108

RESUMEN

BACKGROUND: We report on two siblings with Stüve-Wiedemann syndrome (SWS). The older patient, a 16-year-old boy, is -- as to our knowledge -- the longest-term survivor of this syndrome worldwide. The younger sister with the same clinical and radiographic findings died at the age of 10 months. DEFINITION: Characteristic clinical symptoms are: muscular hypotonia, camptodactyly; respiratory insufficiency, swallowing difficulties; reduced sweating with heat intolerance, episodes of hyperthermia. Typical radiographic findings are: progressive bone bowing, unusual bone fractures, abnormal trabecular pattern, middle face hypoplasia. GENETICS: The SWS is identical with the Schwartz-Jampel syndrome (SJS) type 2, which is gene-located on chromosome 1. So far further genetic details of the SWS can be expected in the near future. The genetic transmission is autosomal recessive. In inbred high risk populations the occurrence of the SWS is increased. THERAPY: For the present only symptomatic therapy is available: extended intensive care during infancy, supportive pediatric orthopedics later on.


Asunto(s)
Anomalías Múltiples , Osteocondrodisplasias/complicaciones , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Adolescente , Factores de Edad , Cuidados Críticos , Trastornos de Deglución/etiología , Diagnóstico Diferencial , Femenino , Fiebre , Dedos/anomalías , Fracturas Espontáneas/etiología , Humanos , Hipohidrosis/etiología , Lactante , Masculino , Hipotonía Muscular/etiología , Osteocondrodisplasias/diagnóstico por imagen , Osteocondrodisplasias/genética , Osteocondrodisplasias/mortalidad , Radiografía Torácica , Insuficiencia Respiratoria/etiología , Sobrevivientes , Síndrome
18.
Ophthalmic Epidemiol ; 12(6): 353-62, 2005 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-16283987

RESUMEN

PURPOSE: To model the natural course of geographic atrophy (GA) in patients with age-related macular degeneration (AMD). METHODS: Data on the natural course of GA were collected in the multi-center, longitudinal, prospective observational FAM study. The size of GA was measured by autofluorescence scanning laser ophthalmoscopy. The natural course of GA is modelled by two different mixed effect models (MEM). Both models are compared with respect to the correctness of the model assumptions, goodness of fit, and predictive behavior. RESULTS: The linear model results in better prediction, the non-linear model is more in agreement with the model assumptions. The non-linear model fits the data for small and large areas of GA better, while the linear model seems to be more adequate for the medial areas. More data will be needed to study the interplay of both models in more detail. CONCLUSIONS: The natural course of GA varies extremely between individuals. However, reliable factors for the explanation of this variability have so far not been established. MEM are useful for describing "inter-individual" as well as "intra-individual" influences without the need for precise knowledge of the influencing factors. Using MEM to evaluate data on the natural history of GA allows one to derive parameter estimates, which could be used to design interventional trials for modes of therapy with a potential to reduce or stop the progression of GA in patients with AMD.


Asunto(s)
Degeneración Macular/complicaciones , Modelos Biológicos , Modelos Estadísticos , Epitelio Pigmentado Ocular/patología , Retina/patología , Anciano , Anciano de 80 o más Años , Atrofia , Progresión de la Enfermedad , Femenino , Estudios de Seguimiento , Humanos , Degeneración Macular/epidemiología , Degeneración Macular/patología , Masculino , Persona de Mediana Edad , Oftalmoscopía , Prevalencia , Pronóstico , Estudios Prospectivos
19.
Virchows Arch ; 446(4): 369-78, 2005 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-15806380

RESUMEN

This study was undertaken to investigate whether there might be differences in the distribution of extracellular matrix (ECM) proteins and matrix metalloproteinases (MMPs), depending on their specific sites within the heart. We investigated 33 explanted human hearts, 15 with dilated cardiomyopathy (DCM) and 18 with ischemic cardiomyopathy (ICM). Transmural samples from the right ventricle, the interventricular septum and the left ventricle, either from near the apex or from near the base were taken from every heart. Frozen sections were processed for connective tissue staining and immunohistochemistry for collagens type I, III, IV, laminin and fibronectin, as well as MMP-1, -2 and -9. Volume densities of laminin in ICM as well as of fibronectin and collagen types I and IV in DCM showed significant differences between right and left ventricular sites. The volume densities of matrix proteins usually did not reveal significant differences among the three left ventricular sites tested in both DCM and ICM. MMPs partly showed differences between the right and the left ventricular myocardium. These results suggest that the distributions of ECM proteins and MMPs differ between the two ventricles in both end-stage DCM and ICM. This gives rise to the hypothesis that a specific pattern of ECM degradation exists in the right and left ventricular myocardium.


Asunto(s)
Cardiomiopatía Dilatada/metabolismo , Proteínas de la Matriz Extracelular/metabolismo , Ventrículos Cardíacos/metabolismo , Metaloproteinasas de la Matriz/metabolismo , Isquemia Miocárdica/metabolismo , Remodelación Ventricular , Cardiomiopatía Dilatada/patología , Femenino , Trasplante de Corazón , Ventrículos Cardíacos/patología , Humanos , Masculino , Persona de Mediana Edad , Isquemia Miocárdica/patología
20.
Vasa ; 32(4): 199-203, 2003 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-14694768

RESUMEN

BACKGROUND: The ratio of volume flow in the common femoral vein and artery denoted as venous-arterial Flowindex (VAFI) is significantly increased in venous insufficiency according the clinical grade of the disease. This study was done to investigate the reliability and reproducibility of VAFI as quantitative pattern. PATIENTS AND METHODS: In 43 patients with varicose veins C4-6 EPAS,D,PPR (PVV), 40 with postthrombotic syndrome C4-6 ESAS,D,PPR,O (PTS) and 48 healthy volunteers volume flow in the common femoral vein (VFV) and artery (VFA) were measured by duplex. Division of VFV by VFA calculated VAFI. VAFI-measurement was repeated 5 times at an interval of ten minutes in 63 subjects (23 PVV, 20 PTS, 20 healthy) and it was performed at three different days in 68 subjects (20 PVV, 20 PTS, 28 healthy). RESULTS: Mean VAFI +/- standard deviation was 1.39 +/- 0.26 in PVV, 1.42 +/- 0.26 in PTS and 0.93 +/- 0.13 in healthy veins (p < 0.001). VAFI remained stable and significantly increased (p < 0.001) in PVV and PTS compared to healthy veins during 40 minutes and also within three different days. CONCLUSION: The venous-arterial flowindex VAFI is a reproducible pattern of the hemodynamic severity in venous insufficiency.


Asunto(s)
Velocidad del Flujo Sanguíneo/fisiología , Volumen Sanguíneo/fisiología , Arteria Femoral/diagnóstico por imagen , Vena Femoral/diagnóstico por imagen , Síndrome Posflebítico/diagnóstico por imagen , Ultrasonografía Doppler en Color , Várices/diagnóstico por imagen , Insuficiencia Venosa/diagnóstico por imagen , Humanos , Síndrome Posflebítico/fisiopatología , Valores de Referencia , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Várices/fisiopatología , Insuficiencia Venosa/fisiopatología
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