Search results for "BELLA"
showing 10 items of 388 documents
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations.
2021
Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinically and genetically characterize a Spanish cohort of SPG7 patients. Patients were recruited from our HCA and HSP cohorts. We identified twenty-one patients with biallelic pathogenic SPG7 mutations. Mean age at onset was 37.4 years (SD ± 14.3). The most frequent phenotype was spastic ataxia (57%), followed by pure spastic paraplegia (19%) and complex phenotypes (19%). Isolated patients presented with focal or multifocal dystonia, subclinical myopat…
Therapeutic considerations in cerebellopontine angle lipomas inducing hemifacial spasm.
2000
Lipoma is a very rare tumour at the cerebellopontine angle. We report a case of incomplete hemifacial spasm, associated with a lipoma involving and compressing both facial and acoustic nerves at their origin in the brainstem. The patient was treated with medical therapy (botulinum toxin A) and surgery. We present a review of the last ten years of the literature, with particular regard to management.
Relevanz von Infektionskrankheiten in einer Kinderarztpraxis
1993
According to official statistics, infectious diseases only play a minor role in German children. To test this assumption, 1685/3405 charts of a private pediatrician were randomly chosen for further evaluation. 1112/1685 children had been seen in the office during the study period, 934 of them because of an infectious disease (83%). 700/934 charts were further reviewed in a standardized fashion. Pharyngo-tonsillitis was the most frequent diagnosis (18.6%), followed by (non-obstructive) bronchitis (18.5%), infectious diseases of the skin (10.2%) and Otitis media (9.9%). Typical "childhood diseases" (measles, mumps, rubella, varicella) only played a minor role. For some diseases age-specific a…
OC2.01: Examination of the fetal brain by three-dimensional ultrasound: potential for routine neurosonographic studies
2005
Objective: To evaluate the role of three-dimensional (3D) ultrasound in the assessment of the fetal brain and its potential for routine neurosonographic studies. Methods: We studied prospectively 202 consecutive brain fetuses between 16 and 24 weeks’ gestation. A 3D-ultrasound volume of the fetal head was acquired transabdominally. The entire brain anatomy was later analyzed by a sonologist expert in neonatal cranial sonography using the multiplanar images. The quality of the conventional planes obtained (coronal, sagittal and axial, at different levels) and the ability to visualize properly the major brain anatomic structures were evaluated. Results: Acceptable rendered cerebral volumes we…
Treatment of early childhood medulloblastoma by postoperative chemotherapy alone.
2005
The prognosis for young children with medulloblastoma is poor, and survivors are at high risk for cognitive deficits. We conducted a trial of the treatment of this brain tumor by intensive postoperative chemotherapy alone.After surgery, children received three cycles of intravenous chemotherapy (cyclophosphamide, vincristine, methotrexate, carboplatin, and etoposide) and intraventricular methotrexate. Treatment was terminated if a complete remission was achieved. Leukoencephalopathy and cognitive deficits were evaluated.Forty-three children were treated according to protocol. In children who had complete resection (17 patients), residual tumor (14), and macroscopic metastases (12), the five…
Diffusionsgewichtetes MRT bei vertebrobasil�ren Isch�mien
2004
The aim of this study was to evaluate the applicability, sensitivity, and predictive power of diffusion-weighted MR imaging (DWI) in the diagnosis of vertebrobasilar infarction. From 1997 to 2002, we prospectively recruited 268 patients with acute signs and symptoms suspective of vertebrobasilar ischemia. The patients underwent biplanar EPI-T2 and EPI DWI within 24 h after onset of symptoms and high-resolution MRI as a control within 7 days. One hundred twenty-one patients had additional CT scanning. The DWI revealed acute vertebrobasilar infarction in 71.0%. The mean time exposure of DWI was 8 min and thus no more than that of CT imaging. It showed significantly more acute lesions than CT …
Neuropathology of Cerebellar Infarction: Its Morphology in Comparison to Selective Postmortem Angiography of Cerebellar Arteries
1994
A typology of infarctions [11, 20] is established for the cerebral hemispheres and has recently also been used, chiefly in neuroradiological diagnosis, for cerebellar infarctions [2–5, 8, 10, 16]. Detailed clinical [12] and microangiographic [7, 9, 13, 15, 17] investigations of the vascularization of the posterior cranial fossa can be referred to in this context. With the aid of selective postmortem angiograms we examined the territories of the superior cerebellar artery (SCA), anterior inferior cerebellar artery (AICA), and posterior inferior cerebellar artery (PICA) on serial sections in the three planes of projection. The sagittal plane offers decisive advantages for assigning cerebellar…
Presurgical evaluation of hemifacial spasm and spasmodic torticollis caused by a neurovascular conflict from AICA with 3T MRI integrated by 3D drive …
2014
Background: Hemifacial spasm (HS) and spasmodic torticollis (ST) are well-known disorders that are caused by a neurovascular conflict. HS is characterized by irregular, involuntary muscle contractions on one side of the face due to spasms of orbicularis oris and orbicularis oculi muscles, and is usually caused by vascular compression of the VII cranial nerve. ST is an extremely painful chronic movement disorder causing the neck to involuntary turn to the side, upward and/or downward. HS is usually idiopathic but it is rarely caused by a neurovascular conflict with the XI cranial nerve. Case Description: We present a case of a 36-year-old woman with a 2-year history of left hemifacial spasm …
Joies botàniques de la Ribera i voltants
2021
Catàleg de l'exposició titulada “Joies Botániques de la Ribera i voltants” que inclou fotografies de les obres exposades juntament amb explicacions detallades de cadascuna d'elles, així com una breu descripció de les tècniques emprades. S'incorporen textos i comentaris artístics i científics de diversos experts. Es tracta d'una iniciativa patrocinada per la Mancomunitat de la Ribera del Xúquer i la Universitat de València que busca sensibilitzar a la societat en temes relacionats amb la conservació de la biodiversitat i el medi ambient. Catalog of the exhibition entitled "Joies Botániques de la Ribera i voltants" that includes photographs of the works exhibited along with detailed explanati…
Los lugares de memoria en la dramaturgia de Valparaíso durante el periodo 2000-2015
2020
La investigación consiste en determinar los lugares de memoria en la dramaturgia de Valparaíso, Chile, durante el periodo 2000-2015. Específicamente la tesis investiga la relación entre memoria, espacio urbano y dramaturgia, procurando establecer especificidades teóricas para el concepto de lugar como factor que incide en la construcción e interpretación del pasado en los textos dramáticos. En consecuencia, para ello, el concepto de lugar de memoria se entiende como el pasado situado no solo en una materialidad/emplazamiento urbano, sino que, además, en las posibilidades de funcionalidad y de significación que los sitios ligados al recuerdo poseen. Asimismo, el estudio vinculado a la…