Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.

Background: Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (, , , , ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.

Modeling and Bioinformatics Identify Responders to G-CSF in Patients With Amyotrophic Lateral Sclerosis.

Developing an integrative approach to early treatment response classification using survival modeling and bioinformatics with various biomarkers for early assessment of filgrastim (granulocyte colony stimulating factor) treatment effects in amyotrophic lateral sclerosis (ALS) patients. Filgrastim, a hematopoietic growth factor with excellent safety, routinely applied in oncology and stem cell mobilization, had shown preliminary efficacy in ALS. We conducted individualized long-term filgrastim treatment in 36 ALS patients.

A detailed report on the measures taken in the Department of Conservative Dentistry and Periodontology in Munich at the beginning of the COVID-19 outbreak.

Objectives: The corona disease (COVID-19) is developing into one of the greatest challenges for healthcare professionals around the world. In this article, we report the detailed actions taken in the Department of Conservative Dentistry and Periodontology, University Hospital, Ludwig-Maximilians-University (LMU), Munich, Germany, during the early phase of the COVID-19 pandemic.

Material And Methods: After a joint on-site inspection of the dental clinic with the Department of Clinical Microbiology and Hospital Hygiene, existing clinical and hygiene protocols were adapted for COVID-19 patients.

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disorders.

Background: The protein O-mannosyltransferase 1, encoded by the POMT1 gene, is a key enzyme in the glycosylation of α-dystroglycan. POMT1-related disorders belong to the group of dystroglycanopathies characterized by a proximally pronounced muscular dystrophy with structural or functional involvement of the brain and/or the eyes. The phenotypic spectrum ranges from the severe Walker-Warburg syndrome (WWS) to milder forms of limb girdle muscular dystrophy (LGMD).

Value of fluid-attenuated inversion recovery MRI data analyzed by the lesion segmentation toolbox in amyotrophic lateral sclerosis.

Background: MRI fluid-attenuated inversion recovery (FLAIR) studies reported hyperintensity in the corticospinal tract and corpus callosum of patients with amyotrophic lateral sclerosis (ALS).

Purpose: To evaluate the lesion segmentation toolbox (LST) for the objective quantification of FLAIR lesions in ALS patients.

Study Type: Retrospective.

Information needs and requirements in patients with brain tumours and their relatives.

Patients with brain tumours face a number of medical and social challenges. Previous studies have shown that these patients and their relatives need a high level of patient-oriented information and counselling. However, these needs are often underestimated.

Fulminant Acute Ascending Hemorrhagic Myelitis Treated with Eculizumab.

We describe an 18-year-old patient who developed back pain, rapidly ascending sensomotory deficits, bladder dysfunction, Lhermitte's sign, absent abdominal reflexes of all three levels, brisk tendon reflexes, and positive Babinski's sign. Magnetic resonance imaging of the spinal cord showed a long segment of cervical and thoracic intramedullary signal hyperintensity suggesting a longitudinally extensive transverse myelitis possibly within the course of a fast progressing ascending immune-mediated hemorrhagic myelopathy. Throughout his illness, the patient deteriorated with tetraplegia, cardiac arrest, and respiratory failure although he received, after exclusion of infective causes, therapy with steroids, immunoglobulins, plasmapheresis, and cyclophosphamide.

Side Effects of Long-Term Continuous Intra-arterial Nimodipine Infusion in Patients with Severe Refractory Cerebral Vasospasm after Subarachnoid Hemorrhage.

Background: Long-term continuous intra-arterial nimodipine infusion (CIAN) is a rescue therapy option in cases of severe refractory cerebral vasospasm (CV) following acute non-traumatic subarachnoid hemorrhage (SAH). However, CIAN therapy can be associated with relevant side effects. Available studies focus on intracerebral complications, whereas extracerebral side effects are rarely examined.

Octreotide LAR and Prednisone as Neoadjuvant Treatment in Patients with Primary or Locally Recurrent Unresectable Thymic Tumors: A Phase II Study.

Therapeutic options to cure advanced, recurrent, and unresectable thymomas are limited. The most important factor for long-term survival of thymoma patients is complete resection (R0) of the tumor. We therefore evaluated the response to and the induction of resectability of primarily or locally recurrent unresectable thymomas and thymic carcinomas by octreotide Long-Acting Release (LAR) plus prednisone therapy in patients with positive octreotide scans.

GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient induced pluripotent stem cell model.

Objective: Mutations in the spastic paraplegia gene 11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal-recessive complex hereditary spastic paraplegia (HSP) and juvenile-onset amyotrophic lateral sclerosis (ALS5). When SPG11 is mutated, patients frequently present with spastic paraparesis, a thin corpus callosum, and cognitive impairment. We previously delineated a neurodegenerative phenotype in neurons of these patients.

LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs.

Background: Patients with LIS1-associated classic lissencephaly typically present with severe psychomotor retardation and drug-resistant epilepsy within the first year.

Aim: To analyze the epileptogenic phenotype and response to antiepileptic therapy in LIS1-associated classic lissencephaly.

Method: Retrospective evaluation of 22 patients (8 months-24 years) with genetically and radiologically confirmed LIS1-associated classic lissencephaly in 16 study centers.

47 patients with FLNA associated periventricular nodular heterotopia.

Background: Heterozygous loss of function mutations within the Filamin A gene in Xq28 are the most frequent cause of bilateral neuronal periventricular nodular heterotopia (PVNH). Most affected females are reported to initially present with difficult to treat seizures at variable age of onset. Psychomotor development and cognition may be normal or mildly to moderately impaired.

Continuous intra-arterial nimodipine infusion in patients with severe refractory cerebral vasospasm after aneurysmal subarachnoid hemorrhage: a feasibility study and outcome results.

Background: Severe cerebral vasospasm is a major cause of death and disability in patients with aneurysmal subarachnoid hemorrhage. No causative treatment is yet available and hypertensive hypervolemic therapy (HHT) is often insufficient to avoid delayed cerebral ischemia and neurological deficits. We compared patients receiving continuous intra-arterial infusion of the calcium-antagonist nimodipine with a historical group treated with HHT and oral nimodipine alone.

BLADE Sequences in Transverse T2-weighted MR Imaging of the Cervical Spine. Cut-off for Artefacts?

Purpose: The BLADE (PROPELLER) technique reduces artefacts in imaging of the cervical spine in sagittal orientation, but till now failed to do so in axial orientation, because here it increased through plane CSF-flow artefacts, which spoiled the benefit of BLADE artefact reduction "in plane". The aim of this study was to compare a BLADE sequence with optimised measurement parameters in axial orientation to T2-TSE.

Materials And Methods: Both sequences were compared in 58 patients with 31 discal, 16 bony and 11 spinal cord lesions.

Evaluating post-interventional occlusion grades of cerebral aneurysms with transcranial contrast-enhanced ultrasound (CEUS) using a matrix probe.

Purpose: The main goal of cerebral endovascular aneurysm therapy is the complete occlusion of the aneurysm. Along with the development of new aneurysm treatment devices, repeated controls are necessary. We examined whether contrast-enhanced ultrasound can help to monitor aneurysms after endovascular treatment.

Intracranial hemorrhage: frequency, location, and risk factors identified in a TeleStroke network.

Intracranial hemorrhages are associated with high rates of disability and mortality. Telemedicine in general provides clinical healthcare at a distance by using videotelephony and teleradiology and is used particularly in acute stroke care medicine (TeleStroke). TeleStroke considerably improves quality of stroke care (for instance, by increasing thrombolysis) and may be valuable for the management of intracranial hemorrhages in rural hospitals and hospitals lacking neurosurgical departments, given that surgical/interventional therapy is only recommended for a subgroup of patients.

BLADE sequences in transverse T2-weighted MR imaging of the cervical spine. Cut-off for Artefacts?

Purpose: The BLADE (PROPELLER) technique reduces artefacts in imaging of the cervical spine in sagittal orientation, but till now failed to do so in axial orientation, because here it increased through plane CSF-flow artefacts, which spoiled the benefit of BLADE artefact reduction "in plane". The aim of this study was to compare a BLADE sequence with optimised measurement parameters in axial orientation to T2-TSE.

Materials And Methods: Both sequences were compared in 58 patients with 31 discal, 16 bony and 11 spinal cord lesions.

Hyperperfusion syndrome after MCA embolectomy - a rare complication?

Patient: Female, 78 FINAL DIAGNOSIS: Cerebral hyperperfusion syndrome Symptoms: -

Medication: - Clinical Procedure: Endovascular embolectomy Specialty: Neurology.

Objective: Unknown ethiology.

Background: Cerebral hyperperfusion syndrome (cHS) is a well known but rare complication after carotid endarterectomy, carotid angioplasty with stenting, and stenting of intracranial arterial stenosis.

BLADE sequences in sagittal T2-weighted MR imaging of the cervical spine and spinal cord--lesion detection and clinical value.

Purpose: Using the BLADE (PROPELLER) technique for T2-weighted MR imaging of the cervical spine has proven to be a reliable tool for reducing artifacts typically for this region. The aim of this study was to evaluate whether the application of BLADE sequences has an impact on the detection of small or low contrast spinal cord and epidural lesions.

Materials And Methods: A standard TSE and a BLADE sequence were compared in 33 patients with 46 spinal cord and epidural lesions for T2-weighted sagittal imaging of the cervical spine.

Novel application of T1-weighted BLADE sequences with fat suppression compared to TSE in contrast-enhanced T1-weighted imaging of the neck: cutting-edge images?

Purpose: To evaluate if the use of BLADE sequences might overcome some limitations of magnetic resonance imaging (MRI) in the extracranial head and neck, which is a diagnostically challenging area with a variety of artifacts and a broad spectrum of potential lesions.

Materials And Methods: After informed consent and Institutional Review Board approval, two different BLADE sequences with (BLADE IR) and without inversion pulse (BLADE) were compared to turbo-spin echo (TSE) with fat saturation for coronal T1-weighted postcontrast imaging of the extracranial head and neck region in 40 individuals of a routine patient collective. Visual evaluation of image sharpness, motion artifacts, vessel pulsation, contrast of anatomic structures, contrast of pathologies to surrounding tissue as well as BLADE-specific artifacts was performed by two experienced, independent readers.

A rare case of supraclinoid internal carotid artery (ICA) fenestration in combination with duplication of the middle cerebral artery (MCA) originating from the ICA fenestration and an associated aneurysm.

Fenestrations and duplications of the cervical and intracranial arteries are rare anatomic variants, reported to be associated with aneurysms or other vascular anomalies. We here present a patient with a supraclinoid ICA fenestration in combination with a duplication of the MCA originating from the ICA fenestration and an associated aneurysm.