Background And Purpose: Magnetic Resonance Imaging is widely used to assess disease burden in multiple sclerosis (MS). This study aimed to evaluate the effectiveness of a commercially available k-nearest neighbors (k-NN) software in quantifying white matter lesion (WML) burden in MS. We compared the software's WML quantification to expert radiologists' assessments.
View Article and Find Full Text PDFAllan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disorder that causes severe neurological damage, for which there is no effective treatment. AHDS is due to inactivating mutations in the thyroid hormone transporter MCT8 that impair the entry of thyroid hormones into the brain, resulting in cerebral hypothyroidism. However, the pathophysiology of AHDS is still not fully understood and this is essential to develop therapeutic strategies.
View Article and Find Full Text PDFBackground: Natural and synthetic cannabinoids are being used worldwide to treat various symptoms in cancer patients. This study aims to map the therapeutic benefits and adverse effects associated with the use of cannabis-based drugs in these outcomes.
Methods: Following Joanna Briggs Institute guidelines a scoping review was conducted.
Dyskeratosis congenita (DC) is a rare telomerase disorder affecting high turnover cells. Malfunction of protective proteins in DC results in patient genomes with shortened germline telomeres leading to genetic instability, cellular apoptosis, and overall cellular lifespan degradation. Classically, reports of DC described a triad of dysplastic nails, reticular skin pigmentation, and oral leukoplakia.
View Article and Find Full Text PDFAm J Speech Lang Pathol
March 2023
Purpose: Spinal pathology is very common with advancing age and can cause dysphagia; however, it is unclear how frequently these pathologies affect swallowing function. This study evaluates how cervical spinal pathology may impact swallowing function in dysphagic individuals observed during videofluoroscopic swallowing studies (VFSSs).
Method: A retrospective case-control study was performed on 100 individuals with dysphagia as well as age-/gender-matched healthy controls (HCs) with available VFSS.
Vacuolar H+-ATPase-dependent (V-ATPase-dependent) functions are critical for neural proteostasis and are involved in neurodegeneration and brain tumorigenesis. We identified a patient with fulminant neurodegeneration of the developing brain carrying a de novo splice site variant in ATP6AP2 encoding an accessory protein of the V-ATPase. Functional studies of induced pluripotent stem cell-derived (iPSC-derived) neurons from this patient revealed reduced spontaneous activity and severe deficiency in lysosomal acidification and protein degradation leading to neuronal cell death.
View Article and Find Full Text PDFSulcal hyperintensity on fluid-attenuated inversion recovery (FLAIR) sequence is a frequently encountered finding that could be due to an abnormality of cerebrospinal fluid, a secondary finding related to an intracranial pathologic process, or be artifactual or iatrogenic. Here we present two cases of sulcal FLAIR hyperintensity in the setting of intracranial hypotension after CSF removal for intracranial hypertension.
View Article and Find Full Text PDFOur goal was to define a pediatric head CT protocol able to provide images of diagnostic quality, using the least amount of radiation, in children <10 years of age, while using a filtered back projection reconstruction algorithm. Image quality of 119 pediatric head CTs was assessed using a 5-point scoring system. Exams with scores ≥2.
View Article and Find Full Text PDFPurpose: We studied the impact of mTOR signaling inhibition with rapamycin in head and neck squamous cell carcinoma (HNSCC) in the neoadjuvant setting. The goals were to evaluate the mTOR pathway as a therapeutic target for patients with advanced HNSCC, and the clinical safety, antitumor, and molecular activity of rapamycin administration on HNSCC.
Patients And Methods: Patients with untreated stage II-IVA HNSCC received rapamycin for 21 days (day 1, 15 mg; days 2-12, 5 mg) prior to definitive treatment with surgery or chemoradiation.
Millions of radiologic examinations requiring the use of iodinated contrast are performed yearly in North America. Triiodobenzoic acid, the contrast agent molecule currently in use, is a benzene ring covalently bonded to the 3 iodine atoms. Iodinated contrast media can be divided in 4 categories: ionic monomers, ionic dimers, nonionic monomer, and nonionic dimers.
View Article and Find Full Text PDFUtilization of a radiology resident-specific quality improvement (QI) program and curriculum based on the Accreditation Council for Graduate Medical Education (ACGME) milestones can enable a program's assessment of the systems-based practice component and prepare residents for QI implementation post graduation. This article outlines the development process, curriculum, QI committee formation, and resident QI project requirements of one institution's designated radiology resident QI program. A method of mapping the curriculum to the ACGME milestones and assessment of resident competence by postgraduate year level is provided.
View Article and Find Full Text PDFA focused genetic workup is useful in determining the cause of familial microcephaly, especially in the setting of mildly different phenotypes. As illustrated by this case from an impoverished international urban location, one must not assume the etiology for the apparent familial microcephaly is the same for all affected members.
View Article and Find Full Text PDFMacrophage infiltration into adipose tissue (AT) is a hallmark of the chronic inflammatory response in obesity and is supported by an intense monocyte migration towards AT. Although it has been detected an increased proportion of circulating CD16 monocyte subsets in obese subjects, the mechanisms underlying this effect and the contribution of these cells to the inflamed profile of obese AT are still poorly understood. We investigated whether factors secreted by human obese omental AT could polarize monocytes to CD16 enriched phenotype, and how these changes could modify their migratory capacity towards adipose tissue itself.
View Article and Find Full Text PDFSubdural hematomas (SDHs) comprise a significant percentage of missed intracranial hemorrhage on axial brain CT. SDH detection rates could be improved with the addition of reformatted images. Though performed at some centers, the potential additional diagnostic sensitivity of reformatted images has not yet been investigated.
View Article and Find Full Text PDFX-linked monocarboxylate transporter 8 (MCT8) deficiency results from a loss-of-function mutation in the monocarboxylate transporter 8 gene, located on chromosome Xq13.2 (Allan-Herndon-Dudley syndrome). Affected boys present early in life with neurodevelopment delays but have pleasant dispositions and commonly have elevated serum triiodothyronine.
View Article and Find Full Text PDFBackground: There are limited data on the specific mechanisms of stroke in patients with intracranial atherosclerotic stenosis (ICAS). We undertook this study to describe infarct patterns and likely mechanisms of stroke in a large cohort of patients with ICAS, and to evaluate the relationship of these infarct patterns to angiographic features (collaterals, stenosis location and stenosis severity).
Methods: We evaluated infarct patterns in the territory of a stenotic intracranial artery on neuroimaging performed at baseline and during follow-up if a recurrent stroke occurred in patients enrolled in the Warfarin-Aspirin Symptomatic Intracranial Disease (WASID) trial.
The present study is aimed to understand the meaning of living with an external fixation device for grade III open fractures of the lower limbs from the perspective of the patient. The data were collected with six young adults who were undergoing outpatient orthopedic treatment in a public hospital in the city of São Paulo, through semi-structured interviews with open questions, between June and August 2010. Seeking to understand the meaning of this experience, we have maintained a phenomenological attitude during the analysis, which made it possible to reveal the phenomenon "try to live in spite of feeling trapped in a cage.
View Article and Find Full Text PDFThe present article discusses a qualitative study which aimed to understand the typical of nurses' professional practice caring for patient with cancer in general hospitals. In order to find out the reasons that motivate nurse's action, and to put in evidence what is original, significant, specific and typical about this phenomenon, we have taken into consideration the premises of the philosopher Alfred Schütz, which provide us with subsidies to unveil them. The data collected through semi-structured interviews reported that nurses admit not having the required theoretical knowledge and experience or enough practice to take care of a cancer patient.
View Article and Find Full Text PDFDisruptions to LIS1 gene expression result in neuronal migration abnormalities. LIS1 heterozygosity is a significant cause of lissencephaly, while overexpression has recently been noted in cases of microcephaly, ventriculomegaly, and dysgenesis of the corpus callosum with normal cortical gyration. We report a partial LIS1 duplication in a child with microcephaly, neurodevelopmental delays, and profound white matter atrophy in the absence of overt lissencephaly.
View Article and Find Full Text PDFPain is a major cause of distress, both physical and psychological. There is a continuous search for new pharmacologically active analgesic agents with minor adverse effects. Recently, the synthesis of (-)-(2S,6S)-(6-ethyl-tetrahydropyran-2-yl)-formic acid [tetrahydropyran derivative (TD)] was described.
View Article and Find Full Text PDFAim Of The Study: Hancornia speciosa Gomes (Apocynaceae) is a tree that is widely distributed throughout Brazil. Its latex is collected and used extensively to treat acne, warts, diseases related to bursitis, and inflammation. In this work, we describe the anti-inflammatory effects of the latex.
View Article and Find Full Text PDFEthnopharmacological Relevance: The species Lippia gracilis Schauer, known in Brazil as "Alecrim-da-chapada", is popularly used in folk medicine to treat cough, bronchitis, nasal congestion, and headache.
Materials And Methods: Lippia gracilis essential oil (EO; 10, 30, and 100mg/kg, p.o.
Aim Of The Study: Hyptis pectinata Poit (Lamiaceae) is grown in the northeastern regions of Brazil and is popularly known as "sambacaitá" or "canudinho". It is extensively used in folk medicine to treat inflammatory conditions, bacterial infections, pain, and cancer.
Materials And Methods: Hyptis pectinata essential oil (EO, 10, 30, and 100mg/kg, p.
Christianson syndrome is an X-linked mental retardation syndrome characterized by microcephaly, impaired ocular movement, severe global developmental delay, hypotonia which progresses to spasticity, and early onset seizures of variable types. Gilfillan et al.2008] reported mutations in SLC9A6, the gene encoding the sodium/hydrogen exchanger NHE6, in the family first reported and in three others.
View Article and Find Full Text PDFThis study aimed at analyzing the representations regarding the relationships between Nursing and Education practices, to reveal expectations regarding the course Fundamentals, Methods and Techniques of Teaching and evaluate the use of the Projects Method. Method this is a qualitative evaluation research performed between April and June 2007 with first-year nursing students of a Baccalaureate Degree Program. The data were analyzed based on the Social Representations framework and the constructivist postulates.
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