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Oktay Gurcan, Ahmet Gurhan Gurcay, Atilla Kazanci, Tuncer Goker, Oguzhan Eylen, Omer Faruk Turkoglu
The Fahr syndrome (FS) is a rare degenerative neurological disorder (its prevalence is <0.5%). FS is distinguished by the presence of abnormal bilateral intracranial calcifications with a predilection for the basal ganglia, also presented by movement disorders such as parkinsonism, paresis, and speech disorders. Chronic subdural hematoma (CSH), which is typically the result of mild head trauma, is a regularly encountered condition in elderly. A 63-year-old man has referred to our clinic from another hospital with a history of mild head trauma approximately a month ago...
January 2018: Asian Journal of Neurosurgery
Juliet K Knowles, Jonathan D Santoro, Brenda E Porter, Fiona M Baumer
Primary familial brain calcification (PFBC), otherwise known as Fahr's disease, is a rare autosomal dominant condition with manifestations of movement disorders, neuropsychiatric symptoms, and epilepsy in a minority of PFBC patients. The clinical presentation of epilepsy in PFBC has not been described in detail. We present a paediatric patient with PFBC and refractory focal epilepsy based on seizure semiology and ictal EEG, but with generalized interictal EEG abnormalities. The patient was found to have a SLC20A2 mutation known to be pathogenic in PFBC, as well as a variant of unknown significance in SCN2A...
February 6, 2018: Seizure: the Journal of the British Epilepsy Association
Suguru Matsuzaka, Yuuki Nagai, Tetsuya Hoshi, Yoritomo Serizawa
No abstract text is available yet for this article.
February 9, 2018: Internal Medicine
Jonathan Rochus Reinwald, Robert Becker, Anne Stephanie Mallien, Claudia Falfan-Melgoza, Markus Sack, Christian Clemm von Hohenberg, Urs Braun, Alejandro Cosa Linan, Natalia Gass, Andrei-Nicolae Vasilescu, Fabian Tollens, Philipp Lebhardt, Natascha Pfeiffer, Dragos Inta, Andreas Meyer-Lindenberg, Peter Gass, Alexander Sartorius, Wolfgang Weber-Fahr
BACKGROUND: To explore the domain-general risk factor of early-life social stress in mental illness, rearing rodents in persistent postweaning social isolation has been established as a widely used animal model with translational relevance for neurodevelopmental psychiatric disorders such as schizophrenia. Although changes in resting-state brain connectivity are a transdiagnostic key finding in neurodevelopmental diseases, a characterization of imaging correlates elicited by early-life social stress is lacking...
December 28, 2017: Biological Psychiatry
Francesco Giovanni Sgulò, Giuseppe di Nuzzo, Matteo de Notaris, Vincenzo Seneca, Giuseppe Catapano
Fahr's disease is a rare idiopathic nosological entity, characterized by calcification of the basal ganglia and dentate nuclei of the cerebellum. Sometimes it may be associated to other diseases like cerebrovascular disorders. However, this link remains unclear and it needs to be further validated. We report two cases of patients with cerebrovascular disorders and Fahr's disease. In the first case, a 69-years-old woman with right internal capsule-basal ganglia haemorrhage. In the second case, a 72-years-old woman with ischemic stroke and pericallosal artery aneurysm...
January 22, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
Natalia Gass, Robert Becker, Markus Sack, Adam J Schwarz, Jonathan Reinwald, Alejandro Cosa-Linan, Lei Zheng, Christian Clemm von Hohenberg, Dragos Inta, Andreas Meyer-Lindenberg, Wolfgang Weber-Fahr, Peter Gass, Alexander Sartorius
RATIONALE: Evidence indicates that ketamine's rapid antidepressant efficacy likely results from its antagonism of NR2B-subunit-containing NMDA receptors (NMDAR). Since ketamine equally blocks NR2A- and NR2B-containing NMDAR, and has affinity to other receptors, NR2B-selective drugs might have improved therapeutic efficiency and side effect profile. OBJECTIVES: We aimed to compare the effects of (S)-ketamine and two different types of NR2B-selective antagonists on functional brain networks in rats, in order to find common circuits, where their effects intersect, and that might explain their antidepressant action...
January 5, 2018: Psychopharmacology
Giulio Russo, Ulrike Theisen, Wieland Fahr, Saskia Helmsing, Michael Hust, Reinhard W Köster, Stefan Dübel
Cadherin-2 plays a fundamental role during zebrafish CNS and heart morphogenesis. Profiling zCdh2 expression via antibody staining is essential to achieving better understanding of its role during zebrafish development. Generation of recombinant human antibodies to zCdh2 by phage display was used to identify monoclonal antibodies with reduced unspecific binding patterns when compared to available commercial antibodies. Specificity was profiled using flow cytometry of wild type, zCdh2-defective mutant and zCdh2-GFP zebrafish cells...
December 28, 2017: New Biotechnology
Bekir Enes Demiryurek, Asli Aksoy Gundogdu
BACKGROUND AND PURPOSE: The idiopathic basal ganglia calcification (Fahr syndrome) may occur due to senility. Fetuin-A is a negative acute phase reactant which inhibits calcium-phosphorus precipitation and vascular calcification. In this study, we aimed to evaluate whether serum fetuin-A levels correlate with bilateral basal ganglia calcification. METHOD: Forty-five patients who had bilateral basal ganglia calcification on brain CT were selected according to the inclusion and exclusion criteria, and 45 age and gender-matched subjects without basal ganglia calcification were included for the control group...
December 27, 2017: Neuroscience Letters
Wieland Fahr, André Frenzel
Antibody identification by phage display on protein or peptide targets is well established and many protocols are available. But there are many targets that cannot be expressed recombinantly or, like peptides, do not reflect correct folding of the protein. Most of these targets are cell surface receptors. Here, we describe a protocol for a panning strategy on cells to obtain specific binders to cell surface receptors. A depletion step is included to prevent enrichment of antibodies that bind to unwanted targets...
2018: Methods in Molecular Biology
Sam Sedaghat, Eleène Sahmila Heshmati, Thomas Frese, Wilma Gertrud Rasche, Filip Barinka, Florian Fahr, Joachim Beige, Stephan Schiekofer, Franz Maximilian Rasche
INTRODUCTION: The possible confounding influence of investigator-related preferences, available histological techniques, and healthcare systems on the frequencies and incidences of primary and secondary nephropathies was evaluated in this long-term observation. MATERIALS AND METHODS: The observation time from 1983 to 2010 was divided in regard to the political regimes: a) prior to and after German reunification: German Democratic Republic (GDR, period 1 from 1983 to 1990)/Federal Republic of Germany (FRG, period 2 from 1990 to 2010); and the two heads of the division of nephrology, b) conductor 1 (1983 - 2006) and conductor 2 (2006 - 2010)...
December 2017: Clinical Nephrology
Shin-Ichiro Sekine, Takayuki Kondo, Nagahisa Murakami, Keiko Imamura, Takako Enami, Ran Shibukawa, Kayoko Tsukita, Misato Funayama, Masatoshi Inden, Hisaka Kurita, Isao Hozumi, Haruhisa Inoue
Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease or primary familial brain calcifications (PFBC), is a rare neurodegenerative disorder characterized by calcium deposits in basal ganglia and other brain regions, causing neuropsychiatric and motor symptoms. We established human induced pluripotent stem cells (iPSCs) from an IBGC patient. The established IBGC-iPSCs carried SLC20A2 c.1848G>A mutation (p.W616* of translated protein PiT2), and also showed typical iPSC morphology, pluripotency markers, normal karyotype, and the ability of in vitro differentiation into three-germ layers...
October 2017: Stem Cell Research
Christian S Göbl, Latife Bozkurt, Andrea Tura, Michael Leutner, Laura Andrei, Lukas Fahr, Peter Husslein, Wolfgang Eppel, Alexandra Kautzky-Willer
AIMS/HYPOTHESIS: Roux-en-Y gastric bypass (RYGB) surgery is characterised by glycaemic variability. Prospective studies of glucose metabolism in pregnancy after RYGB are not available, therefore this study aimed to evaluate physiological alterations in glucose metabolism in pregnancy following RYGB. METHODS: Sixty-three pregnant women (25 who underwent RYGB, 19 non-operated obese control women and 19 normal weight control women) were included. Frequently sampled 3 h OGTTs and 1 h IVGTTs were performed between 24 and 28 weeks of gestation and, in a subgroup, were repeated at 3-6 months after delivery...
December 2017: Diabetologia
Tereza Pereira de Souza, Guilherme Volpe Bossa, Pasquale Stano, Frank Steiniger, Sylvio May, Pier Luigi Luisi, Alfred Fahr
Primitive cell models help to understand the role that compartmentalization plays in origin of life scenarios. Here we present a combined experimental and modeling approach towards the construction of simple model systems for primitive cellular assemblies. Charged lipid vesicles aggregate in the presence of oppositely charged biopolymers, such as nucleic acids or polypeptides. Based on zeta potential measurements, dynamic light scattering and cryo-transmission electron-microscopy, we have characterized the behavior of empty and ferritin-filled large unilamellar POPC vesicles, doped with different amounts of cationic (DDAB, CTAB) and anionic (sodium oleate) surfactants, and their aggregation upon the addition of anionic (tRNA, poly-l-glutamic acid) and cationic (poly-l-arginine) biopolymers, respectively...
July 20, 2017: Physical Chemistry Chemical Physics: PCCP
Gholam Ali Shahidi, Mahdi Safdarian
No abstract text is available yet for this article.
January 5, 2017: Iranian Journal of Neurology
Kathrin Nowak, Jakob Fahr, Natalie Weber, Antina Lübke-Becker, Torsten Semmler, Sabrina Weiss, Jean-Vivien Mombouli, Lothar H Wieler, Sebastian Guenther, Fabian H Leendertz, Christa Ewers
Bats are suspected to be a reservoir of several bacterial and viral pathogens relevant to animal and human health, but studies on Escherichia coli in these animals are sparse. We investigated the presence of E. coli in tissue samples (liver, lung and intestines) collected from 50 fruit bats of five different species (Eidolon helvum, Epomops franqueti, Hypsignathus monstrosus, Myonycteris torquata, Rousettus aegyptiacus) of two different areas in the Republic of Congo between 2009 and 2010. To assess E. coli pathotypes and phylogenetic relationships, we determined the presence of 59 virulence associated genes and multilocus sequence types (STs)...
2017: PloS One
Mukul Ashtikar, Lucas Langelüddecke, Alfred Fahr, Volker Deckert
Stratum corneum is the primary skin barrier to percutaneous absorption. Since 1980, topical liposomal formulations have been proposed and successfully employed for increasing the drug penetration through the skin. There is no clear consensus on the drug penetration mechanism from topically applied liposomes, despite a vast amount of research. One of the reasons for the ambiguity is that the interactions between the stratum corneum and liposomes are in nanoscale, which makes them difficult to probe. In this study, we employed tip-enhanced Raman scattering (TERS) to gain a better understanding of the interactions between the human stratum corneum and topically applied liposomal system called invasomes...
November 2017: Biochimica et Biophysica Acta
Boutheina Ben Amou, Imen Kacem, Amira Nasri, Mouna Ben Djebara, Youssef Sidhom, Amina Gargouri, Riadh Gouider
No abstract text is available yet for this article.
August 2016: La Tunisie Médicale
Eliezer Dade, Veauthyelau Saint-Joy, Norrisa A Haynes, Aaron L Berkowitz
No abstract text is available yet for this article.
June 6, 2017: Neurology
L F Pimentel, R R Lemos, J R Oliveira
Primary familial brain calcification (PFBC), formerly known as Fahr disease, is a rare neurological disorder characterized by extensive calcification deposits in the brain. So far, four genes have been reported with variations associated with PFBC, SLC20A2, PDGFβ, PDGFRβ, and XPR1. Using real-time qPCR, we analyzed the expression of three inorganic phosphate (Pi) transporters (SLC20A1, SLC20A2, and XPR1) in patients with PFBC. Our results showed a significant reduction (~40%) of SLC20A2 expression in the patients carrying mutation whereas no significant change was observed within the patients without known mutations...
August 2017: Journal of Molecular Neuroscience: MN
Syeda Naqvi, Samiullah Arshad, Rida Hanif, Khaled Abdelmaqsoud Hamed Elfert
Fahr's syndrome is a rare disease entity which presents with multiple neurological symptoms like movement disorder or cognitive impairment. We describe a case of a young male patient who presented with symptoms mimicking schizophrenia. He failed to improve despite medical management. He developed an episode of seizure which prompted us to make a computed tomography (CT) scan of the brain, revealing bilateral calcification of basal ganglia, despite normal serum calcium and parathyroid hormone (PTH) levels. This case experience explains the need to rule out all pathological causes of hallucinations before making a diagnosis of schizophrenia...
March 2, 2017: Curēus
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