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1.
J Pediatr Gastroenterol Nutr ; 77(1): 31-38, 2023 07 01.
Artículo en Inglés | MEDLINE | ID: mdl-37040073

RESUMEN

OBJECTIVES: In infants with suspected food protein induced proctocolitis (sFPIP) only a minority of patients are finally diagnosed with the disease following diagnostic dietary intervention (DDI). There is a need for a pathophysiological explanation for the cause of hematochezia in the majority of sFPIP infants. METHODS: We prospectively recruited infants with sFPIP and healthy controls. Fecal samples were collected at inclusion, week 4 (end of DDI in sFPIP), and week 8. For 16S rRNA sequencing (515F/806R) we used Illumina MiSeq sequencing system. Amplicon sequence variants were generated using Qiime2 and DADA2. Qiime diversity alpha and beta group comparisons and linear discriminant analysis effect size analysis was performed. For shotgun metagenomic analysis on species level we used KneadData and MetaPhlAn2. RESULTS: Fourteen sFPIP infants were compared to 55 healthy infants. At inclusion overall microbial composition of sFPIP infants differed significantly from controls (weighted UniFrac; Pairwise PERMANOVA, P = 0.002, pseudo- F = 5.008). On genus level healthy infant microbiota was significantly enriched with Bifidobacterium ( B ) compared to sFPIP patients (linear discriminant analysis [LDA] = 5.5, P < 0.001, 31.3% vs 12.1%). sFPIP stool was significantly enriched by Clostridium sensu stricto 1 over controls (LDA = 5.3, P = 0.003, 3.5% vs 18.3%). DDI caused a significant and sustained increase of Bifidobacterium (LDA = 5.4, P = 0.048, 27.9%) in sFPIP infants. Species level analysis revealed significant reduction of abundance of B longum in sFPIP patients, which after DDI was reversed by B. species other than B longum . CONCLUSIONS: We revealed a gut microbiota dysbiosis phenomenon in sFPIP infants. DDI induces a microbiota composition comparable to that of healthy infants. In most sFPIP infants hematochezia might be triggered by a gut microbiota dysbiosis phenomenon.


Asunto(s)
Microbioma Gastrointestinal , Proctocolitis , Humanos , Lactante , Bifidobacterium , Disbiosis , Heces/microbiología , Estudios Prospectivos , ARN Ribosómico 16S/genética
2.
Eur J Nucl Med Mol Imaging ; 50(1): 103-114, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36048259

RESUMEN

PURPOSE: Progressive supranuclear palsy (PSP) is primary 4-repeat tauopathy. Evidence spanning from imaging studies indicate aberrant connectivity in PSPs. Our goal was to assess functional connectivity network alterations in PSP patients and the potential link between regional tau-burden and network-level functional connectivity using the next-generation tau PET tracer [18F]PI-2620 and resting-state functional MRI (fMRI). MATERIAL AND METHODS: Twenty-four probable PSP patients (70.9 ± 6.9 years, 13 female), including 14 Richardson syndrome (RS) and 10 non-RS phenotypes, underwent [18F]PI-2620 PET/MRI imaging. Distribution volume ratios (DVRs) were estimated using non-invasive pharmacokinetic modeling. Resting-state fMRI was also acquired in these patients as well as in thirteen older non-AD MCI reference group (64 ± 9 years, 4 female). The functional network was constructed using 141 by 141 region-to-region functional connectivity metrics (RRC) and network-based statistic was carried out (connection threshold p < 0.001, cluster threshold pFDR < 0.05). RESULTS: In total, 9870 functional connections were analyzed. PSPs compared to aged non-AD MCI reference group expressed aberrant connectivity evidenced by the significant NBS network consisting of 89 ROIs and 118 connections among them (NBS mass 4226, pFDR < 0.05). Tau load in the right globus pallidus externus (GPe) and left dentate nucleus (DN) showed significant effects on functional network connectivity. The network linked with increased tau load in the right GPe was associated with hyperconnectivity of low-range intra-opercular connections (NBS mass 356, pFDR < 0.05), while the network linked with increased tau load in the left cerebellar DN was associated with cerebellar hyperconnectivity and cortico-cerebellar hypoconnectivity (NBS mass 517, pFDR < 0.05). CONCLUSIONS: PSP patients show altered functional connectivity. Network incorporating deep gray matter structures demonstrate hypoconnectivity, cerebellum hyperconnectivity, while cortico-cortical connections show variable changes. Tau load in the right GPe and left DN is associated with functional networks which strengthen low-scale intra-opercular and intra-cerebellar connections and weaken opercular-cerebellar connections. These findings support the concept of tau load-dependent functional network changes in PSP, by that providing evidence for downstream effects of neuropathology on brain functionality in this primary tauopathy.


Asunto(s)
Parálisis Supranuclear Progresiva , Tauopatías , Femenino , Humanos , Cerebelo/metabolismo , Imagen por Resonancia Magnética , Tomografía de Emisión de Positrones/métodos , Parálisis Supranuclear Progresiva/diagnóstico por imagen , Proteínas tau/metabolismo , Masculino , Persona de Mediana Edad , Anciano
3.
Int Orthop ; 46(3): 523-529, 2022 03.
Artículo en Inglés | MEDLINE | ID: mdl-34618195

RESUMEN

INTRODUCTION: The diagnosis and management of periprosthetic knee and hip infections as well as the identification and management of possible additional infectious foci is of great importance for successful therapy. This study analyses the importance of 18F deoxyglucose PET-CT (PET-CT) in the identification of additional infectious focus and subsequent impact on management of periprosthetic infection (PPI). MATERIAL AND METHODS: A retrospective analysis of the clinical data and findings in the period from January 2008 to December 2018 was carried out. One hundred and four patients with in-hospital treatment due to PPI of a hip or knee joint were identified and included in this study. All patients underwent a standardized clinical examination and further surgical and antibiotic therapy. The reevaluation of performed PET-CTs was specifically carried out with regard to the local PPI or detection of secondary foci. RESULTS: PET-CT successfully verified the PPI in 84.2% of the patients. A total of 78 possible additional foci were detected in PET-CT in 56 (53.8%) of the examined patients. Predilection sites for possible secondary foci were joints (42.3%), pulmonary (15.4%), ear-nose-throat (15.4%), spine (11.5%), and the musculocutaneous tissues (11.5%). Fifty-four positive PET-CT findings were confirmed clinically with need of additional adequate treatment. CONCLUSION: PET-CT is a valuable diagnostic tool to confirm periprosthetic joint infection. At the same time, the whole-body PET/CT may detect additional foci of infection with impact on subsequent treatment strategy. PET was of special value in detecting infections at distant locations far from the primary infected joint in significant number. These distant infection locations can be potential cause of a re-infection. This clearly reflects the need of their diagnosis.


Asunto(s)
Artroplastia de Reemplazo de Cadera , Artroplastia de Reemplazo de Rodilla , Infecciones Relacionadas con Prótesis , Antibacterianos/uso terapéutico , Artroplastia de Reemplazo de Cadera/efectos adversos , Artroplastia de Reemplazo de Rodilla/efectos adversos , Articulación de la Cadera/diagnóstico por imagen , Articulación de la Cadera/cirugía , Humanos , Articulación de la Rodilla/diagnóstico por imagen , Articulación de la Rodilla/cirugía , Tomografía Computarizada por Tomografía de Emisión de Positrones , Infecciones Relacionadas con Prótesis/diagnóstico por imagen , Infecciones Relacionadas con Prótesis/terapia , Estudios Retrospectivos
4.
Nervenarzt ; 89(1): 8-17, 2018 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-28251242

RESUMEN

BACKGROUND: The symptom "delusions" is a central psychopathological symptom in psychiatric diseases. Since the beginning of psychiatry various disciplines have attempted to explain and understand delusions but even now no generally accepted definition of this phenomenon exists. AIM: A comprehensive review of current psychopathological and neurobiological theories of delusions is given. MATERIAL AND METHODS: PubMed and Google scholar searches were performed using the keywords "delusion", "psychodynamic" and "neurobiology", both in English and German. Relevant German textbooks of psychiatry were also included. DISCUSSION: A differentiated perspective of the phenomenon of delusions appears to be necessary to approach this complex and fascinating symptom. A one-dimensional approach does not do justice to the complexity of delusions. The various explanatory approaches can increasingly be linked to each other and are no longer considered to be mutually exclusive.


Asunto(s)
Deluciones/psicología , Trastornos Neurocognitivos/psicología , Teoría Psicoanalítica , Síndrome de Capgras/diagnóstico , Síndrome de Capgras/psicología , Síndrome de Capgras/terapia , Deluciones/diagnóstico , Deluciones/terapia , Diagnóstico Diferencial , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Diagnóstico Precoz , Intervención Médica Temprana , Teoría Gestáltica , Humanos , Clasificación Internacional de Enfermedades , Trastornos Neurocognitivos/diagnóstico , Trastornos Neurocognitivos/terapia , Psicopatología , Trastornos Psicóticos/diagnóstico , Trastornos Psicóticos/psicología , Trastornos Psicóticos/terapia , Psicología del Esquizofrénico , Ajuste Social , Teoría de la Mente
5.
Nervenarzt ; 89(9): 999-1008, 2018 Sep.
Artículo en Alemán | MEDLINE | ID: mdl-29876598

RESUMEN

Ayurveda is a traditional Indian system of medicine that is more than 3000 years old, consisting mostly of a specific diet, oily infusions mainly in the area of the head, enemas, medicinal plants and yoga. It is based on a naturopathic and anthropological belief in association with the hinduistic religion. Ayurveda has been practiced very successfully in India but so far it has only been insufficiently appreciated by western medicine, especially psychiatry. An exception is Scharfetter from Zürich who wrote a review article on this topic in 1976. Nevertheless, it is probable that particularly the immunological mechanisms of psychotic and affective disorders can be influenced by the application of ayurvedic methods; however, the empirical data source, particularly with respect to randomized controlled trials and meta-analyses regarding psychiatric disorder symptoms is limited. Even if Ayurveda is applied in a highly individualized manner, this should be rapidly improved for further evidential assessment. First positive experiences in the neuropsychiatric field in Germany are already available.


Asunto(s)
Medicina Ayurvédica , Trastornos Mentales , Plantas Medicinales , Suplementos Dietéticos , Alemania , India , Medicina Ayurvédica/normas , Trastornos Mentales/terapia
6.
Nervenarzt ; 89(1): 71-77, 2018 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-28785776

RESUMEN

BACKGROUND: Recidivism rates in substance-addicted patients placed in institutions according to §64 of the German legal code are approximately 50%, 3 years after discharge from inpatient treatment. The recidivism rates of patients with premature termination of inpatient treatment who had then been referred back to prison and were finally discharged into the community are unknown. RESEARCH QUESTION: Is premature termination of treatment a risk factor for recidivism? METHODS: Patients released from forensic treatment according to § 64 of the German legal code were followed up for violent and non-violent recidivism. Full data were acquired for Baden-Württemberg patients released in 2010 and 2011 with regular vs. premature termination of treatment. RESULTS: All measures revealed highly significant group differences: 48% of the patients discharged after subsequent prison sentences recidivated within the first year and 73% within 3 years after discharge. Among recidivists, the severity of offences was much higher (odds ratio > 3.8 each). Regularly discharged patients also re-offended to a remarkable extent (50%). DISCUSSION: Patients serving prison sentences after unsuccessful forensic treatment are a high-risk group for recidivism. Alternative concepts of clinical and legal treatment of this group should be developed.


Asunto(s)
Crimen/legislación & jurisprudencia , Crimen/psicología , Pacientes Desistentes del Tratamiento/psicología , Prisioneros/legislación & jurisprudencia , Prisioneros/psicología , Psicoterapia/legislación & jurisprudencia , Trastornos Relacionados con Sustancias/rehabilitación , Adulto , Femenino , Estudios de Seguimiento , Psiquiatría Forense/legislación & jurisprudencia , Alemania , Humanos , Masculino , Estudios Prospectivos , Psicotrópicos , Recurrencia , Factores de Riesgo , Trastornos Relacionados con Sustancias/psicología
7.
J Eur Acad Dermatol Venereol ; 31(7): 1088-1095, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28449190

RESUMEN

Facial fillers play an important role in the correction of facial changes associated with ageing. They offer quick treatments in the outpatient setting with minimal subsequent downtime that provide predictable, natural-looking, long-lasting results. Adverse reactions after hyaluronic acid injections tend to be mild or moderate and rather temporary. However, as with all injected or implanted biomaterials, severe adverse events can occur and patients must be fully informed of potential risks prior to undergoing treatment. A panel of experts from Germany (D), Austria (A) and Switzerland (CH) developed recommendations, and this study provides the 'DACH Consensus Recommendations' from this group specifically on the use of hyaluronic acid fillers. The aim is to help clinicians recognize potential risks and to provide guidance on how best to treat adverse events if they arise. Contraindications to hyaluronic acid fillers are also detailed, and ways to prevent adverse events occurring are discussed. Hyaluronic acid-based products are claimed to be very close to an ideal tissue augmentation agent; nevertheless, profound medical, anatomical and product knowledge are of paramount importance to minimize the occurrence of adverse reactions.


Asunto(s)
Técnicas Cosméticas/efectos adversos , Ácido Hialurónico/administración & dosificación , Consenso , Humanos , Ácido Hialurónico/efectos adversos , Inyecciones Subcutáneas/efectos adversos
8.
Clin Otolaryngol ; 42(6): 1267-1274, 2017 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-28296237

RESUMEN

OBJECTIVES: To determine the inpatient management for patients with acute idiopathic facial palsy (IFP) in Thuringia, Germany. DESIGN: Population-based study. SETTING: All inpatients with IFP in all hospitals with departments of otolaryngology and neurology in 2012, in the German federal state, Thuringia. MAIN OUTCOME MEASURES: Patients' characteristics and treatment were compared between departments, and the probability of recovery was tested. RESULTS: A total of 291 patients were mainly treated in departments of otolaryngology (55%) and neurology (36%). Corticosteroid treatment was the predominant therapy (84.5%). The probability to receive a facial nerve grading (odds ratio [OR=12.939; 95% confidence interval [CI]=3.599 to 46.516), gustatory testing (OR=6.878; CI=1.064 to 44.474) and audiometry (OR=32.505; CI=1.485 to 711.257) was significantly higher in otolaryngology departments, but lower for cranial CT (OR=0.192; CI=0.061 to 0.602), cerebrospinal fluid examination (OR=0.024; CI=0.006 to 0.102). A total of 131 patients (45%) showed a recovery to House-Brackmann grade≤II. A pathological stapedial reflex test (Hazard ratio [HR]=0.416; CI=0.180 to 0.959) was the only independent diagnostic predictor of worse outcome. Prednisolone dose >500 mg (HR=0.579; CI 0.400 to 0.838) and no adjuvant physiotherapy (HR=0.568; CI=0.407 to 0.794) were treatment-related predictors of worse outcome. CONCLUSIONS: Inpatient treatment of IFP seems to be highly variable in daily practice, partly depending on the treating discipline and despite the availability of evidence-based guidelines. The population-based recovery rate was worse than reported in clinical trials.


Asunto(s)
Parálisis de Bell/terapia , Investigación sobre Servicios de Salud , Hospitalización , Enfermedad Aguda , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Parálisis de Bell/diagnóstico , Parálisis de Bell/fisiopatología , Niño , Preescolar , Femenino , Alemania , Departamentos de Hospitales , Humanos , Lactante , Masculino , Persona de Mediana Edad , Evaluación de Procesos y Resultados en Atención de Salud , Recuperación de la Función , Estudios Retrospectivos , Adulto Joven
9.
Nervenarzt ; 88(11): 1292-1297, 2017 Nov.
Artículo en Alemán | MEDLINE | ID: mdl-29063263

RESUMEN

Complex trends in occupancy determined by many influencing factors, clear state-specific differences in imprisonment practices as well as recently implemented statutory alterations to the appropriate paragraphs in criminal law, underline the necessity for qualitative high-grade concomitant research of German forensic commitment; however, neither the structural prerequisites nor an adequate data situation are currently present in order to do justification to this aim. Not even the total number of patients currently accommodated in forensic commitment can be elucidated from the publicized (partial) statistics. This consensus paper, which was formulated by three research institutes active at the state level, describes the limited possibilities for current forensic healthcare research and raises the demand for a nationwide uniform data situation on patients in forensic commitment. Furthermore, how the appropriate elicitation instrument should be organizationally and structurally achieved, is sketched from a scientific perspective. This article aims at initiating a discussion on a sustainable improvement in the prerequisites for healthcare research in German forensic commitment and targets a sensitization of decision makers in politics and administration for this topic.


Asunto(s)
Internamiento Obligatorio del Enfermo Mental/tendencias , Recolección de Datos/tendencias , Necesidades y Demandas de Servicios de Salud/tendencias , Investigación sobre Servicios de Salud/tendencias , Internamiento Obligatorio del Enfermo Mental/legislación & jurisprudencia , Recolección de Datos/legislación & jurisprudencia , Predicción , Alemania , Necesidades y Demandas de Servicios de Salud/legislación & jurisprudencia , Investigación sobre Servicios de Salud/legislación & jurisprudencia , Humanos , Encuestas y Cuestionarios
10.
Nervenarzt ; 88(Suppl 1): 1-29, 2017 Aug.
Artículo en Alemán | MEDLINE | ID: mdl-28776213

RESUMEN

People who have been convicted of a crime due to a severe mental disorder and continue to be dangerous as a result of this disorder may be placed in a forensic psychiatric facility for improvement and safeguarding according to § 63 and § 64 of the German Criminal Code (StGB). In Germany, approximately 9000 patients are treated in clinics for forensic psychiatry and psychotherapy on the basis of § 63 of the StGB and in withdrawal centers on the basis of § 64 StGB. The laws for treatment of patients in forensic commitment are passed by the individual States, with the result that even the basic conditions differ in the individual States. While minimum requirements have already been published for the preparation of expert opinions on liability and legal prognosis, consensus standards for the treatment in forensic psychiatry have not yet been published. Against this background, in 2014 the German Society for Psychiatry and Psychotherapy, Psychosomatics and Neurology (DGPPN) commissioned an interdisciplinary task force to develop professional standards for treatment in forensic psychiatry. Legal, ethical, structural, therapeutic and prognostic standards for forensic psychiatric treatment should be described according to the current state of science. After 3 years of work the results of the interdisciplinary working group were presented in early 2017 and approved by the board of the DGPPN. The standards for the treatment in the forensic psychiatric commitment aim to initiate a discussion in order to standardize the treatment conditions and to establish evidence-based recommendations.


Asunto(s)
Internamiento Obligatorio del Enfermo Mental/legislación & jurisprudencia , Internamiento Obligatorio del Enfermo Mental/normas , Comunicación Interdisciplinaria , Colaboración Intersectorial , Trastornos Mentales/rehabilitación , Programas Nacionales de Salud/legislación & jurisprudencia , Trastornos Relacionados con Sustancias/rehabilitación , Atención Ambulatoria/ética , Atención Ambulatoria/legislación & jurisprudencia , Atención Ambulatoria/normas , Internamiento Obligatorio del Enfermo Mental/ética , Ética Médica , Testimonio de Experto/ética , Testimonio de Experto/legislación & jurisprudencia , Alemania , Humanos , Programas Nacionales de Salud/ética , Admisión del Paciente/legislación & jurisprudencia , Admisión del Paciente/normas , Prisioneros/legislación & jurisprudencia , Prisioneros/psicología , Pronóstico
11.
J Neurophysiol ; 115(4): 1970-7, 2016 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-26864767

RESUMEN

In humans, significant progress has been made to link spatial changes in electroencephalographic (EEG) spectral density, connectivity strength, and phase-amplitude modulation to neurological, physiological, and psychological correlates. In contrast, standard rodent EEG techniques employ only few electrodes, which results in poor spatial resolution. Recently, a technique was developed to overcome this limitation in mice. This technique was based on a polyimide-based microelectrode (PBM) array applied on the mouse skull, maintaining a significant number of electrodes with consistent contact, electrode impedance, and mechanical stability. The present study built on this technique by extending it to rats. Therefore, a similar PBM array, but adapted to rats, was designed and fabricated. In addition, this array was connected to a wireless EEG headstage, allowing recording in untethered, freely moving rats. The advantage of a high-density array relies on the assumption that the signal recorded from the different electrodes is generated from distinct sources, i.e., not volume-conducted. Therefore, the utility and validity of the array were evaluated by determining the level of synchrony between channels due to true synchrony or volume conduction during basal vigilance states and following a subanesthetic dose of ketamine. Although the PBM array allowed recording with high signal quality, under both drug and drug-free conditions, high synchronization existed due to volume conduction between the electrodes even in the higher spectral frequency range. Discrimination existed only between frontally and centrally/distally grouped electrode pairs. Therefore, caution should be used in interpreting spatial data obtained from high-density PBM arrays in rodents.


Asunto(s)
Electroencefalografía/métodos , Conducción Nerviosa , Animales , Corteza Cerebral/fisiología , Electroencefalografía/instrumentación , Masculino , Microelectrodos/efectos adversos , Ratas , Resinas Sintéticas
12.
Hautarzt ; 67(1): 40-52, 2016 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-26650868

RESUMEN

Collagen vascular diseases and vasculitides comprise various diseases, which may affect virtually every organ system. Therefore, their diagnosis and management is often an interdisciplinary challenge. Because of the heterogeneous symptoms, these diseases have significant overlap, which interferes with the clinical diagnosis and may require additional investigation. Therefore, a rational and comprehensive diagnostic work-up should be performed at the initial presentation before initiation of therapy. The detection of antinuclear (ANA) or anticell antibodies by indirect immunofluorescence microscopy on Hep2 cells is used to screen for autoantibodies in collagen vascular diseases. The molecular specificity of autoantibodies should be further characterized using immunoassays with recombinant or purified protein. When systemic autoimmune disease is suspected, the function of the frequently affected organs should be evaluated. The immunopathological findings should always be interpreted in the context of clinical, histological, and imaging data. The detection of autoantibodies is helpful for the initial diagnosis, provides prognostic information, may indicate involvement of organs or systems and some parameters may also be used for disease monitoring. The clinical significance of autoantibodies is emphasized by the fact that their detection constitutes diagnostic criteria for most collagen vascular diseases and several vasculitides. The screening for ANCA may be performed using immunoassays with recombinant myeloperoxidase and proteinase 3 or by indirect immunofluorescence microscopy on granulocytes. In this article, the current diagnostic tools and their relevance for the diagnosis and monitoring of systemic autoimmune diseases with primary skin involvement are reviewed.


Asunto(s)
Enfermedades del Colágeno/diagnóstico , Técnica del Anticuerpo Fluorescente/métodos , Inmunoensayo/métodos , Técnicas de Diagnóstico Molecular/métodos , Vasculitis/diagnóstico , Enfermedades del Colágeno/inmunología , Medicina Basada en la Evidencia , Humanos , Vasculitis/inmunología
13.
Hautarzt ; 67(1): 33-9, 2016 Jan.
Artículo en Alemán | MEDLINE | ID: mdl-26612472

RESUMEN

Bullous autoimmune diseases are organ-specific disorders characterized by an autoantibody-mediated blistering of skin and mucous membranes. The detection of tissue-bound and serum autoantibodies is prerequisite for the diagnosis of autoimmune blistering diseases. The individual entities of this group may be difficult to differentiate on clinical grounds alone. An accurate diagnosis is however important for prognosis and therapy. A preliminary diagnostic step includes direct and indirect immunofluorescence microscopy, which provide information about the binding pattern and isotype of autoantibodies and allow the diagnosis of the autoimmune blistering disease. Subsequent characterization of the molecular specificity of autoantibodies is necessary for the exact classification of autoimmune bullous dermatoses. The quantitative measurement of autoantibodies against structural proteins of the skin may be often used to assess disease severity at follow-up.


Asunto(s)
Enfermedades Autoinmunes/diagnóstico , Enfermedades Autoinmunes/inmunología , Inmunoensayo/métodos , Técnicas de Diagnóstico Molecular/métodos , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/inmunología , Autoanticuerpos/inmunología , Humanos
14.
Klin Monbl Augenheilkd ; 233(2): 187-94, 2016 Feb.
Artículo en Alemán | MEDLINE | ID: mdl-26280645

RESUMEN

BACKGROUND: Fuchs endothelial corneal dystrophy (FECD) is one of the most common indications for corneal transplants. FECD is associated with various genes, e.g., COL8A2 or SLC4A11. Among other things a TGC trinucleotide repeat expansion in intron 2 of the TCF4 gene has been characterised in FECD patients and the allele G of the polymorphism rs613872 in intron 3 of the same gene has been associated with this disease. Our intention was to investigate sources in molecular genetics in the German population and to calculate the odds ratio as indicator for the chance to suffer from FECD. PATIENTS AND METHOD: 42 unrelated FECD patients, 93 unrelated controls and 17 members of a family with four FECD affected patients have been examined for the described changes in the TCF4 gene. After amplification of the TGC repeats with specific PCR the obtained products were electrophoretically divided according to their length and investigated with a triplet-primed PCR. Polymorphism rs613872 was analysed by Sanger sequencing. All coding exons of the adjacent genes TCF4 and LOXHD1 were sequenced in six patients in order to exclude potential disease associated mutations. RESULTS: 33 out of 42 unrelated analysed patients (79 %) had a TGC repeat expansion (> 50 TGC repeats) in intron 2 of the TCF4 gene. Out of 93 controls only 10 (10.8 %) showed an expanded allele. In the family the four diseased and four healthy subjects of the 17 examined family members had an expanded allele. Analysis of the polymorphism rs613872 in intron 3 of the TCF4 gene exhibited 33 of 42 unrelated patients (78.6 %) heterozygous TG and four homozygous GG (9.5 %). 65 of 93 controls were homozygous TT (69.9 %) and only 21 heterozygous TG (22.6 %). Of the 17 family members nine had the genotype TG, including the four FECD patients. Sequencing of the coding exons of TCF4 and LOXHD1 in six patients showed no variant described with FECD. The odds ratio as indicator for being affected by FECD in our data for the expanded TGC allele is 30. The chance of being affected is thus 30 times higher when someone exhibits the expanded allele. For a carrier of the risk allele G the chance is 16.5 times higher. DISCUSSION: An expanded TGC allele with more than 50 TGC repeats in intron 2 and the described risk allele G of the polymorphism rs613872 in intron 3 of the TCF4 gene appear as an association to FECD. The chance to be affected by FECD is up to 30 times higher. With molecular genetics also donors with clinically unknown FECD may be detected.


Asunto(s)
Factores de Transcripción Básicos con Cremalleras de Leucinas y Motivos Hélice-Asa-Hélice/genética , Distrofia Endotelial de Fuchs/epidemiología , Distrofia Endotelial de Fuchs/genética , Predisposición Genética a la Enfermedad/genética , Intrones/genética , Secuencias Repetitivas de Ácidos Nucleicos/genética , Factores de Transcripción/genética , Adolescente , Adulto , Anciano , Femenino , Marcadores Genéticos/genética , Predisposición Genética a la Enfermedad/epidemiología , Alemania/epidemiología , Humanos , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Prevalencia , Pronóstico , Reproducibilidad de los Resultados , Factores de Riesgo , Sensibilidad y Especificidad , Factor de Transcripción 4 , Adulto Joven
15.
Eur Radiol ; 25(10): 3060-5, 2015 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-26115652

RESUMEN

OBJECTIVES: Recent studies indicate an interest in early infarct assessment, mainly using post-interventional perfusion imaging. This work evaluated two specific angiographic signs for infarct prediction in the basal ganglia immediately after successful mechanical intra-arterial thrombectomy. METHODS: In this retrospective study, 57 consecutive patients (mean ± SD age 67 ± 15 years) with acute occlusion of the proximal anterior circulation who underwent mechanical thrombectomy of the M1 segment of the middle cerebral artery were included. Two separate angiographic signs, early venous drainage and capillary blush, were identified and analysed regarding their statistical significance for infarct prediction within the basal ganglia. RESULTS: Four patients were excluded due to parenchymal haemorrhage. Forty-four of 53 patients developed infarction of the basal ganglia. Sensitivity/specificity were 93%/27%, respectively, for the capillary blush sign and 88%/63%, respectively, for the early venous drainage sign. Combining both signs increased the sensitivity and specificity to 88% and 81%, respectively, and increased the positive predictive value to 95%. CONCLUSIONS: Both angiographic signs seem to predict the irreversible damage of tissue in the basal ganglia reliably despite successful recanalization of the middle cerebral artery in patients with ischaemic stroke. KEY POINTS: • Evaluation of success in neurointerventional procedures is mainly based on recanalization rates. • Two separate angiographic signs can predict infarction immediately after proximal MCA recanalization. • Combining both signs increases their specificity.


Asunto(s)
Fístula Arteriovenosa/etiología , Ganglios Basales/irrigación sanguínea , Infarto Cerebral/etiología , Complicaciones Posoperatorias/etiología , Accidente Cerebrovascular/cirugía , Trombectomía/métodos , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Infarto de la Arteria Cerebral Media/cirugía , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Sensibilidad y Especificidad , Adulto Joven
16.
Soft Matter ; 11(8): 1525-38, 2015 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-25589156

RESUMEN

Polyelectrolyte molecules of opposite charge are known to form stable complexes in solution. Depending on the system conditions, such complexes can be solid or liquid. The latter are known as complex coacervates, and they appear as a second liquid phase in equilibrium with a polymer-dilute aqueous phase. This work considers the complexation between poly(glutamic acid) and poly(lysine), which is of particular interest because it enables examination of the role of chirality in ionic complexation, without changes to the overall chemical composition. Systematic atomic-level simulations are carried out for chains of poly(glutamic acid) and poly(lysine) with varying combinations of chirality along the backbone. Achiral chains form unstructured complexes. In contrast, homochiral chains lead to formation of stable ß-sheets between molecules of opposite charge, and experiments indicate that ß-sheet formation is correlated with the formation of solid precipitates. Changes in chirality along the peptide backbone are found to cause "kinks" in the ß-sheets. These are energetically unfavorable and result in irregular structures that are more difficult to pack together. Taken together, these results provide new insights that may be of use for the development of simple yet strong bioinspired materials consisting of ß-rich domains and amorphous regions.


Asunto(s)
Ácido Poliglutámico/química , Polilisina/química , Modelos Moleculares , Estructura Secundaria de Proteína
17.
Anal Bioanal Chem ; 407(11): 3181-91, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25616702

RESUMEN

Commercial platforms consisting of ready-to-use microarrays printed with target-specific DNA probes, a microarray scanner, and software for data analysis are available for different applications in medical diagnostics and food analysis, detecting, e.g., viral and bacteriological DNA sequences. The transfer of these tools from basic research to routine analysis, their broad acceptance in regulated areas, and their use in medical practice requires suitable calibration tools for regular control of instrument performance in addition to internal assay controls. Here, we present the development of a novel assay-adapted calibration slide for a commercialized DNA-based assay platform, consisting of precisely arranged fluorescent areas of various intensities obtained by incorporating different concentrations of a "green" dye and a "red" dye in a polymer matrix. These dyes present "Cy3" and "Cy5" analogues with improved photostability, chosen based upon their spectroscopic properties closely matching those of common labels for the green and red channel of microarray scanners. This simple tool allows to efficiently and regularly assess and control the performance of the microarray scanner provided with the biochip platform and to compare different scanners. It will be eventually used as fluorescence intensity scale for referencing of assays results and to enhance the overall comparability of diagnostic tests.


Asunto(s)
Análisis de los Alimentos/métodos , Inocuidad de los Alimentos , Análisis de Secuencia por Matrices de Oligonucleótidos/métodos , Calibración , Carbocianinas , Diseño de Equipo , Colorantes Fluorescentes , Contaminación de Alimentos/análisis , Análisis de Secuencia por Matrices de Oligonucleótidos/instrumentación , Reproducibilidad de los Resultados , Espectrometría de Fluorescencia
18.
Adv Exp Med Biol ; 839: 61-6, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25315618

RESUMEN

In this study we determined the relationship between the severity of obstructive sleep apnea (OSA) and body mass index (BMI), systolic and diastolic blood pressure (SBP, DBP), and carotid intima-media thickness (cIMT) in 30 hypertensive male patients, aged 30-70, with newly diagnosed OSA (15 with moderate OSA - Group A, and 15 with severe OSA - Group B) and 20 non-OSA hypertensive individuals (Group C). We revealed significant differences in cIMT between Groups B and C (0.9 ± 0.3 vs. 0.6 ± 0.1 mm and 1.0 ± 0.4 vs. 0.6 ± 0.2 mm in the right and left common carotid arteries, respectively; p <0.05). Increased carotid intima-media thickness in severe OSA was accompanied by higher systolic and diastolic blood pressures compared with both moderate OSA and control subjects. We conclude that in severe OSA increased blood pressure goes in tandem with the thickness of carotid intima-media, which helps explain increased cardiovascular risk in these patients.


Asunto(s)
Arteria Carótida Común/patología , Hipertensión/patología , Apnea Obstructiva del Sueño/patología , Adulto , Anciano , Presión Sanguínea , Índice de Masa Corporal , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Humanos , Hipertensión/complicaciones , Hipertensión/diagnóstico , Masculino , Persona de Mediana Edad , Polisomnografía , Factores de Riesgo , Apnea Obstructiva del Sueño/complicaciones , Apnea Obstructiva del Sueño/diagnóstico
19.
Eur Arch Otorhinolaryngol ; 272(12): 3769-77, 2015 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-25502742

RESUMEN

Although tonsil surgery is one of the most frequent otorhinolaryngological procedures, not many population-based regional or country-wide studies are published on the incidence of postoperative bleeding and its risk factors. 2,216 patients underwent tonsil surgery in 2012 in Thuringia, a federal state in Germany. Most frequent indications were recurrent tonsillitis (44 % of all cases), tonsillar abscess (27 %), and tonsillar hyperplasia (20 %). 29 % of the patients were <10 years of age. Most frequent methods of surgery were tonsillectomy (73 %) and tonsillotomy (19 %). 215 patients (10 %) had 221 events of a postoperative hemorrhage. Re-surgery for hemostasis was necessary in 137 patients (6 %). The interval to re-surgery was 4.4 ± 4.6 days. The re-surgery rate was 8, 0.2, and 15 % after tonsillectomy, tonsillotomy, and radical tonsillectomy, respectively. In cases of recurrent tonsillitis, male gender (p < 0.001), age >24.78 years (median; (p = 0.018), and waiving of perioperative antibiotics (p = 0.029) were independent factors associated with hemorrhage. In cases of tonsillar hyperplasia tonsillectomy instead of tonsillotomy, the only significant risk factor was postoperative hemorrhage (p = 0.005). The overall incidence of tonsillar surgery was 87.6/100,000. The highest incidence was seen for patients 3-4 years of age with 862.7/100,000. In children <10 years, the incidence was always higher for boys than for girls. Throughout all age groups, a reverse gender relation was only seen, if surgery was indicated for recurrent tonsillitis. We recommend establishing national guidelines for indication of tonsil surgery, especially of tonsillectomy, including recommendations for perioperative care to decrease variations in tonsil surgery rates and minimize postoperative complications.


Asunto(s)
Tonsila Palatina/cirugía , Hemorragia Posoperatoria/epidemiología , Tonsilectomía , Absceso/cirugía , Adolescente , Adulto , Factores de Edad , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Femenino , Alemania/epidemiología , Hemostasis Quirúrgica , Humanos , Hiperplasia/cirugía , Lactante , Masculino , Persona de Mediana Edad , Tonsila Palatina/patología , Hemorragia Posoperatoria/cirugía , Reoperación/estadística & datos numéricos , Estudios Retrospectivos , Factores Sexuales , Tonsilitis/cirugía , Adulto Joven
20.
Hautarzt ; 66(6): 459-61, 2015 Jun.
Artículo en Alemán | MEDLINE | ID: mdl-25578302

RESUMEN

BACKGROUND: Methotrexate (MTX), alongside fumaric acid esters, is the most commonly used drug in the systemic therapy of psoriasis in Germany. It is sometimes used in combination with topical therapy and/or phototherapy due to synergistic effects. CASE REPORT: Here we describe a case of phototoxic dermatitis during treatment with MTX. Other cutaneous side effects of MTX include so-called UV recall, radiation recall, and skin tumor formation.


Asunto(s)
Metotrexato/efectos adversos , Trastornos por Fotosensibilidad/inducido químicamente , Trastornos por Fotosensibilidad/diagnóstico , Psoriasis/terapia , Terapia Ultravioleta , Adulto , Artritis Psoriásica/terapia , Terapia Combinada , Humanos , Masculino , Metotrexato/uso terapéutico , Neoplasias Inducidas por Radiación/inducido químicamente , Neoplasias Inducidas por Radiación/diagnóstico , Neoplasias Inducidas por Radiación/terapia , Trastornos por Fotosensibilidad/terapia , Radiodermatitis/inducido químicamente , Radiodermatitis/diagnóstico , Radiodermatitis/terapia , Factores de Riesgo , Neoplasias Cutáneas/inducido químicamente , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/terapia , Terapia Ultravioleta/efectos adversos
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