697 results match your criteria fahr


Fahr's Syndrome Presenting With Hypocalcemia and Psychotic Features.

Cureus 2021 Sep 19;13(9):e18091. Epub 2021 Sep 19.

Geriatric Medicine, Ain Shams University, Cairo, EGY.

Fahr's disease is a rare genetic neurodegenerative disorder described as "bilateral striopallidodentate calcinosis" (BSPDC). It is characterized by calcium deposition crossing the blood-brain barrier and calcifying different brain areas. Here, we report a case of a 26-year-old Saudi young lady, known as a case of epilepsy since childhood, a major depressive disorder with psychotic features, and hypocalcemia related to hypoparathyroidism. Read More

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September 2021

Mitral Valve Surgery After Transcatheter Edge-to-Edge Repair: Mid-Term Outcomes From the CUTTING-EDGE International Registry.

JACC Cardiovasc Interv 2021 Sep;14(18):2010-2021

San Raffaele University Hospital, Milan, Italy.

Objectives: The aim of this study was to determine clinical and echocardiographic characteristics, mechanisms of failure, and outcomes of mitral valve (MV) surgery after transcatheter edge-to-edge repair (TEER).

Background: Although >100,000 mitral TEER procedures have been performed worldwide, longitudinal data on MV surgery after TEER are lacking.

Methods: Data from the multicenter, international CUTTING-EDGE registry were retrospectively analyzed. Read More

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September 2021

Parent Perspectives on Supports and Barriers for Autistic Youth Transitioning to Adulthood.

J Autism Dev Disord 2021 Sep 15. Epub 2021 Sep 15.

Department of Occupational and Recreational Therapies, University of Utah, 520 Wakara Way, Salt Lake City, UT, 84108, USA.

Knowledge is needed about specific supports and barriers for successful transitions to adulthood for autistic youth, especially from the perspective of parents, who are highly involved in transition preparation. We conducted a qualitative thematic analysis of previously conducted semi-structured interviews with 39 parents of 41 autistic adolescents to identify themes related to supports and barriers; we then used Bronfenbrenner's Ecological System's Theory to aid in interpreting the themes. We identified three main supports and four main barriers to the transition to adulthood from the parent interviews. Read More

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September 2021

Hypoparathyroidism associated with vascular centrum semiovale calcifications.

Ann Neurol 2021 Sep 8. Epub 2021 Sep 8.

Department of Neurology, CHU Nîmes, Univ. Montpellier, Nîmes, France.

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September 2021

Polysaccharide conjugates surpass monosaccharide ligands in hepatospecific targeting - Synthesis and comparative in silico and in vitro assessment.

Carbohydr Res 2021 Aug 3;509:108417. Epub 2021 Aug 3.

Bombay College of Pharmacy, Kalina, Santacruz East, Mumbai, 400098, India. Electronic address:

Ligands with the polysaccharide headgroups have been recently reported by our group to possess enhanced interaction with asialoglycoprotein receptor (ASGPR) in silico as compared to ligands having galactose moieties. This enhanced interaction is a result of the polymer's backbone support in anchoring the ligand in a specific orientation within the bilayer. In this paper, we have attempted to provide an in vitro proof of concept by performing a comparative evaluation of polysaccharide and monosaccharide-based ligands. Read More

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The influence of valence shifts in fear appeals on message processing and behavioral intentions: A moderated mediation model.

PLoS One 2021 2;16(9):e0255113. Epub 2021 Sep 2.

Department of Communication and Media Research, University of Fribourg, Fribourg, Switzerland.

Newer approaches in health communication research indicate that understanding the flow of emotional experiences during exposure to fear appeals can clarify their persuasive effects. In a laboratory experiment, the impact of valence shifts during exposure to fear appeals on determinants of health-relevant behaviors were examined. Continuous response measurement allowed gathering real-time data about participants' experiences of valence shifts during exposure. Read More

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September 2021

Impact of Upper Extremity Impairment and Trunk Control on Self-Care Independence in Children With Upper Motor Neuron Lesions.

Phys Ther 2021 Aug;101(8)

Swiss Children's Rehab, University Children's Hospital Zurich, Affoltern am Albis, Switzerland.

Objective: The purpose of this study was to evaluate the relative importance of different approaches to measure upper extremity selective voluntary motor control (SVMC), spasticity, strength, and trunk control for explaining self-care independence in children affected by upper motor neuron lesions.

Methods: Thirty-one patients (mean [SD] age = 12.5 [3. Read More

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Basal ganglia calcification: a Fahr's disease case report.

Radiol Case Rep 2021 Oct 12;16(10):3055-3059. Epub 2021 Aug 12.

U.O.C. Radiologia, P.O. Marcianise, Caserta, Italy.

Idiopathic basal ganglia calcification (IBGC), known as Fahr's disease, is a rare neurological disorder characterized by metabolic, biochemical, neuroradiological and neuropsychiatric alterations caused by symmetrical and bilateral intracranial calcifications. The disease has, in most cases, an autosomal dominant pattern of inheritance and genetic heterogeneity. Overlap of neuropsychiatric symptoms is common with movement disorders accounted for 55% of the manifestation. Read More

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October 2021

Senile plaque calcification of the lamina circumvoluta medullaris in Alzheimer's disease.

Neuropathology 2021 Aug 20. Epub 2021 Aug 20.

Paul Flechsig Institute for Brain Research, University of Leipzig, Leipzig, Germany.

Vascular calcification is a common phenomenon in the elderly, predominantly appearing in the basal ganglia and in the lamina circumvoluta medullaris of the hippocampus. Calcifications are not an inherent feature of Alzheimer's disease. On the other hand, a rare presenile type of dementia with symmetrical Fahr-type calcifications and numerous neurofibrillary tangles without senile plaques has been described by Kosaka in 1994 and was termed "diffuse neurofibrillary tangles with calcification" (DNTC). Read More

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Coexistence of DiGeorge syndrome with Fahr syndrome, mosaic Turner syndrome and psychiatric symptoms - a case report.

Psychiatr Pol 2021 Apr 30;55(2):397-404. Epub 2021 Apr 30.

Klinika Endokrynologii i Chorób Wewnętrznych, Gdański Uniwersytet Medyczny, Gdańsk.

We report a case of a 63-year-old patient with psychiatric symptoms diagnosed with coexisting DiGeorge syndrome, Fahr syndrome and Turner syndrome. To our knowledge, this is the first reported case of coexistence of DiGeorge syndrome and mosaic Turner syndrome. Basal ganglia calcification, known as Fahr syndrome, may develop in patients with DiGeorge syndrome as a consequence of calcium-phosphate balance disturbances resulting from primary hypoparathyroidism. Read More

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A Unique Presentation of Fahr's Syndrome Secondary to Hypoparathyroidism.

Cureus 2021 Jun 30;13(6):e16063. Epub 2021 Jun 30.

Gyanecology, Khyber Medical University, Peshawar, PAK.

Fahr's syndrome is a rare condition characterized by deposition of bilateral symmetric calcium deposits in the basal ganglia and cerebellar region, leading to neurological and psychiatric sequelae. Herein we describe a case of a 62-year-old female presented with aphasia, bilateral lower limb rigidity, tremors, and gait disturbance. Her past medical history included thyroidectomy and radiation therapy 10 years back due to papillary carcinoma of the thyroid gland. Read More

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An Interactive Computer Game for Improving Selective Voluntary Motor Control in Children With Upper Motor Neuron Lesions: Development and Preliminary Feasibility Study.

JMIR Serious Games 2021 Jul 28;9(3):e26028. Epub 2021 Jul 28.

Swiss Children's Rehab, University Children's Hospital Zurich, Affoltern a.A., Switzerland.

Background: Computer game-based interventions are emerging in pediatric neurorehabilitation, as they can provide two key elements for motor learning-motivating environments that enable long-term compliance, which is particularly relevant for children, and augmented feedback for improving movement performance.

Objective: The overall aim of this study is to develop an interactive computer play for children with upper motor neuron lesions to train selective voluntary motor control and give particular attention to motivation and feedback. We also aim to determine features that make games engaging, investigate which sensory feedback modality is noticed the fastest during play, develop an interactive game, and evaluate its feasibility. Read More

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Cell-autonomous inflammation of BRCA1-deficient ovarian cancers drives both tumor-intrinsic immunoreactivity and immune resistance via STING.

Cell Rep 2021 Jul;36(3):109412

Ludwig Institute for Cancer Research, University Hospital of Lausanne (CHUV), Lausanne, Switzerland.

In this study, we investigate mechanisms leading to inflammation and immunoreactivity in ovarian tumors with homologous recombination deficiency (HRD). BRCA1 loss is found to lead to transcriptional reprogramming in tumor cells and cell-intrinsic inflammation involving type I interferon (IFN) and stimulator of IFN genes (STING). BRCA1-mutated (BRCA1) tumors are thus T cell inflamed at baseline. Read More

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Quantification of regurgitation in mitral valve prolapse with four-dimensional flow cardiovascular magnetic resonance.

J Cardiovasc Magn Reson 2021 07 8;23(1):87. Epub 2021 Jul 8.

Department of Cardiology and Electrophysiology, Heart Center Leipzig at University of Leipzig, Struempellstrasse 39, 04289, Leipzig, Germany.

Background: Four-dimensional cardiovascular magnetic resonance (CMR) flow assessment (4D flow) allows to derive volumetric quantitative parameters in mitral regurgitation (MR) using retrospective valve tracking. However, prior studies have been conducted in functional MR or in patients with congenital heart disease, thus, data regarding the usefulness of 4D flow CMR in case of a valve pathology like mitral valve prolapse (MVP) are scarce. This study aimed to evaluate the clinical utility of cine-guided valve segmentation of 4D flow CMR in assessment of MR in MVP when compared to standardized routine CMR and transthoracic echocardiography (TTE). Read More

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UV/Vis photochemistry database: Structure, content and applications.

J Quant Spectrosc Radiat Transf 2020 Sep;253

Chemistry Department, University of Oxford, South Parks Road, Oxford, OX1 3QR, United Kingdom.

The "science-softCon UV/Vis Photochemistry Database" (www.photochemistry.org) is a large and comprehensive collection of EUV-VUV-UV-Vis-NIR spectral data and other photochemical information assembled from published peer-reviewed papers. Read More

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September 2020

Just "one of so many"? The pathologist Theodor Fahr (1877-1945) and his ambivalent relationship to National Socialism.

Pathol Res Pract 2021 Aug 23;224:153488. Epub 2021 May 23.

Institute for History, Theory and Ethics in Medicine, Medical Faculty, RWTH Aachen University, Wendlingweg 2, Aachen, D-52074, Germany. Electronic address:

Theodor Fahr is well known as a pioneer in renal pathology and the eponym of "Fahr's disease". While his professional merits are undisputed, his relationship to National Socialism remains unclear. On the one hand, he signed the public "oath of allegiance" of German professors to Adolf Hitler, on the other hand, he appeared as a mentor to his Jewish colleague Paul Kimmelstiel. Read More

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From cranial nerve palsy to seizures-All the signs that lead to secondary Fahr's syndrome.

Clin Case Rep 2021 May 5;9(5):e03669. Epub 2021 May 5.

Internal Medicine Hospital Senhora da Oliveira Guimarães Portugal.

Neuroimaging scan and calcium/phosphorus metabolism evaluation should be considered in patients with new onset of neuropsychiatric symptoms, to provide an earliest detection of pathological and metabolic alterations, such as Fahr's syndrome. Read More

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First pediatric case with primary familial brain calcification due to a novel variant on the MYORG gene and review of the literature.

Brain Dev 2021 Aug 4;43(7):789-797. Epub 2021 May 4.

Baskent University, Faculty of Medicine, Department of Pediatric Neurology, Adana Dr. Noyan Teaching and Medical Research Center, Adana, Turkey.

Variants in the myogenesis-regulating glycosidase (MYORG) gene which is known as the first autosomal recessive gene that has been associated with primary familial brain calcification (AR-PFBC). Although adult patients have been reported, no pediatric case has been reported until now. Herein, we review the clinical and radiological features of all AR- PFBC patients with biallelic variants in the MYORG gene who were reported until now, and we report the youngest patient who has a novel homozygous variant. Read More

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Impact of Upper Extremity Impairment and Trunk Control on Self-Care Independence in Children With Upper Motor Neuron Lesions.

Phys Ther 2021 Apr 19. Epub 2021 Apr 19.

Swiss Children's Rehab, University Children's Hospital Zurich, Affoltern am Albis, Switzerland.

Objective: We evaluated the relative importance of different approaches measuring upper extremity selective voluntary motor control (SVMC), spasticity, strength, and trunk control for explaining self-care independence in children affected by upper motor neuron lesions.

Methods: Thirty-one patients (12.5 ± 3. Read More

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Validity and reliability of an electromyography-based upper limb assessment quantifying selective voluntary motor control in children with upper motor neuron lesions.

Sci Prog 2021 Apr-Jun;104(2):368504211008058

Swiss Children's Rehab, University Children's Hospital Zurich, Affoltern am Albis, Switzerland.

Current clinical assessments evaluating selective voluntary motor control are measured on an ordinal scale. We combined the Selective Control of the Upper Extremity Scale (SCUES) with surface electromyography to develop a more objective and interval-scaled assessment of selective voluntary motor control. The resulting Similarity Index (SI) quantifies the similarity of muscle activation patterns. Read More

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Minimally invasive ventricular assist device implantation.

J Thorac Dis 2021 Mar;13(3):2010-2017

Department of Cardiac Surgery, Heart Center, University of Leipzig, Leipzig, Germany.

Durable mechanical circulatory support (MCS) systems are established therapy option in patients with end-stage heart failure, with increasing importance during the last years due to donor organ shortage. Left ventricular assist devices (LVADs) are traditionally implanted through median sternotomy (MS). However, improvement in the pump designs during the last years led to evolvement of new surgical approaches that aim to reduce the invasiveness of the procedure. Read More

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Quantifying age-related differences in selective voluntary motor control in children and adolescents with three assessments.

Hum Mov Sci 2021 Jun 30;77:102790. Epub 2021 Mar 30.

Swiss Children's Rehab, University Children's Hospital Zurich, Mühlebergstrasse 104, 8910 Affoltern am Albis, Switzerland; Children's Research Center, University Children's Hospital Zurich, University of Zurich, Steinwiesstrasse 75, 8032 Zürich, Switzerland. Electronic address:

Background: Neurophysiological development of selective voluntary motor control (SVMC) is assumed but has not been quantified objectively. We assessed SVMC with (i) clinical assessments, (ii) a combination of these assessments with surface electromyography (sEMG) and, (iii) a playful computer game. The aim of this study was to describe and compare age-related differences in SVMC, quantified with these tools, in neurologically intact children, adolescents, and adults. Read More

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Quantification of regurgitation in mitral valve prolapse with automated real time echocardiographic 3D proximal isovelocity surface area: multimodality consistency and role of eccentricity index.

Int J Cardiovasc Imaging 2021 Jun 22;37(6):1947-1959. Epub 2021 Feb 22.

University Department for Cardiac Surgery, HELIOS Heart Center Leipzig, Strümpellstraße 39, 04289, Leipzig, Germany.

Three-dimensional transthoracic echocardiography (3D-TTE) provides a semi-automated proximal isovelocity surface area method (3D-PISA) to obtain quantitative parameters. Data assessing regurgitation severity in mitral valve prolapse (MVP) are scarce, so we assessed the 3D-PISA method compared with 2D-PISA and cardiovascular magnetic resonance (CMR) and the role of an eccentricity index. We evaluated the 3D-PISA method for assessing MR in 54 patients with MVP (57 ± 14 years; 42 men; 12 mild/mild-moderate; 12 moderate-severe; and 30 severe MR). Read More

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Cellular correlates of gray matter volume changes in magnetic resonance morphometry identified by two-photon microscopy.

Sci Rep 2021 Feb 19;11(1):4234. Epub 2021 Feb 19.

Department of Functional Neuroanatomy, Institute for Anatomy and Cell Biology, Heidelberg University, Im Neuenheimer Feld 307, 69120, Heidelberg, Germany.

Magnetic resonance imaging (MRI) of the brain combined with voxel-based morphometry (VBM) revealed changes in gray matter volume (GMV) in various disorders. However, the cellular basis of GMV changes has remained largely unclear. We correlated changes in GMV with cellular metrics by imaging mice with MRI and two-photon in vivo microscopy at three time points within 12 weeks, taking advantage of age-dependent changes in brain structure. Read More

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February 2021

Is binge-watching addictive? Effects of motives for TV series use on the relationship between excessive media consumption and problematic viewing habits.

Addict Behav Rep 2021 Jun 13;13:100325. Epub 2020 Dec 13.

Department of Communication and Media Research, University of Fribourg, Fribourg, Switzerland.

This study investigates the circumstances under which binge-watching can become a problematic behavior. Applying a user-centered perspective, it demonstrates how different motivations to engage in high-dosage TV series consumption influence the occurrence of problematic viewing habits. A quantitative online survey of  = 415 media users with access to at least one streaming service was conducted. Read More

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PDGF receptor mutations in human diseases.

Cell Mol Life Sci 2021 Apr 15;78(8):3867-3881. Epub 2021 Jan 15.

De Duve Institute, Université Catholique de Louvain, Avenue Hippocrate 75, Box B1.74.05, 1200, Brussels, Belgium.

PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development. In addition, chromosomal rearrangement of either gene causes myeloid neoplasms associated with hypereosinophilia. Read More

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Theoretical Investigation of the Mechanisms and Kinetics of the Bimolecular and Unimolecular Reactions Involving in the CH Species.

J Phys Chem A 2021 Jan 7;125(2):585-596. Epub 2021 Jan 7.

Department of Chemistry, Hanoi Architectural University, Hanoi, Vietnam.

A theoretical study of the mechanisms and kinetics for the CH system was carried out using molecular orbital theory based on the CCSD(T)/CBS//B3LYP/6-311++G(3df,2p) method in conjunction with statistical theoretical variable reaction coordinate transition-state theory and RRKM/ME calculations. The calculated results indicate that buta-1,3-diene, but-1-yne, and CH + H can be the major products of the C + C reaction, while CCH + CH and CH + H play an important role in the C + C reaction. In contrast, the CH fragmentation giving rise to C + C and CH + H becomes the key reaction paths under any temperature and pressure. Read More

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January 2021

Delayed awakening from general anesthesia revealing Fahr syndrome: Case report and literature review.

Clin Case Rep 2020 Dec 22;8(12):3337-3339. Epub 2020 Oct 22.

Department of Anesthesia -Intensive Care Unit Faculty of Medicine and Pharmacy of Oujda Mohammed VI Hospital Center Mohammed I University Oujda Morocco.

Fahr syndrome (FS) is defined by the presence of bilateral and symmetrical intracerebral nonarteriosclerotic calcifications, localized in the central gray nuclei. We report the case of a patient who presented a postoperative delay in awakening and whose biological and radiological investigations revealed a FS. Read More

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December 2020

A Systematic Review of Training Methods That May Improve Selective Voluntary Motor Control in Children With Spastic Cerebral Palsy.

Front Neurol 2020 4;11:572038. Epub 2020 Dec 4.

Swiss Children's Rehab, University Children's Hospital Zurich, Affoltern am Albis, Switzerland.

Impaired selective voluntary motor control is defined as "the reduced ability to isolate the activation of muscles in response to demands of a voluntary posture or movement." It is a negative motor sign of an upper motor neuron lesion. This paper reviews interventions that may improve selective motor control in children and youths with spastic cerebral palsy. Read More

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December 2020

Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.

Neurol Clin Pract 2020 Oct;10(5):449-457

Departments of Radiology (MEMP, JWB, WPTMM, PAdJ), Geriatrics (EJMdB, HLK), Pathology (AJMR), and Genetics (AFB), University Medical Center Utrecht, The Netherlands.

Purpose Of Review: There is growing interest in disorders involved in ectopic mineralization. Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic mineralization in the basal ganglia, which is fairly common in the general population. In this review, we will focus on causative gene mutations and corresponding pathophysiologic pathways in Fahr disease. Read More

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October 2020