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https://www.readbyqxmd.com/read/28820624/retinopathy-and-optic-atrophy-expanding-the-phenotypic-spectrum-of-pathogenic-variants-in-the-aars2-gene
#1
Jason H Peragallo, Stephanie Keller, Marjo S van der Knaap, Bruno P Soares, Suma P Shankar
BACKGROUND: Optic atrophy may be the sequela of optic nerve injury due to any insult, including isolated and syndromic genetic diseases. Alanyl-tRNA synthetase 2 (AARS2) pathogenic variants have been reported to cause leukodystrophy with ovarian failure, and cardiomyopathy (#615889) as well as combined oxidative phosphorylation deficiency-8 (#614096). We report a young child who presented with decreased vision due to optic atrophy and was found to harbor missense variants in the AARS2 gene expanding the phenotypic expression of the AARS2 gene...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28819716/neurological-complications-of-therapeutic-monoclonal-antibodies-trends-from-oncology-to-rheumatology
#2
REVIEW
Chandler Gill, Stasia Rouse, Ryan D Jacobson
PURPOSE OF REVIEW: This review is to describe the scope of neurological complications associated with monoclonal antibody-based therapies, applied across medical specialties, to demonstrate the common and rare neurological syndromes that may be encountered in clinical practice according to the therapeutic agent being receive, and to explain appropriate work-up, diagnosis, and management of drug complications, as supported by the literature. RECENT FINDINGS: The number of commercially available, evidence-based therapeutic monoclonal antibodies continues to expand...
August 17, 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28819614/acute-compartment-syndrome-after-an-olecranon-fracture-in-a-patient-with-mild-hemophilia-b
#3
John M Reynolds, Christy Christophersen, Mary K Mulcahey
INTRODUCTION: Compartment syndrome is a serious condition characterized by compartmental pressures within 20 mmHg of diastolic blood pressure, or clinical signs of pain, paresthesia, pallor, and lack of pulses. Often a surgical intervention is necessary. Increased surveillance for compartment syndrome is important when a patient with a bleeding disorder sustains a traumatic injury. CASE REPORT: We present a case of forearm compartment syndrome in a patient with mild hemophilia B who sustained an olecranon fracture...
March 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/28818303/nkcc1-chloride-importer-antagonists-attenuate-many-neurological-and-psychiatric-disorders
#4
REVIEW
Yehezkel Ben-Ari
In physiological conditions, adult neurons have low intracellular Cl(-) [(Cl(-))I] levels underlying the γ-aminobutyric acid (GABA)ergic inhibitory drive. In contrast, neurons have high (Cl(-))I levels and excitatory GABA actions in a wide range of pathological conditions including spinal cord lesions, chronic pain, brain trauma, cerebrovascular infarcts, autism, Rett and Down syndrome, various types of epilepsies, and other genetic or environmental insults. The diuretic highly specific NKCC1 chloride importer antagonist bumetanide (PubChem CID: 2461) efficiently restores low (Cl(-))I levels and attenuates many disorders in experimental conditions and in some clinical trials...
August 14, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28818179/multiple-trauma-and-emergency-room-management
#5
Michael Frink, Philipp Lechler, Florian Debus, Steffen Ruchholtz
BACKGROUND: The care of severely injured patients remains a challenge. Their initial treatment in the emergency room is the essential link between first aid in the field and definitive in-hospital treatment. METHODS: We present important elements of the initial in-hospital care of severely injured patients on the basis of pertinent publications retrieved by a selective search in PubMed and the current German S3 guideline on the care of severely and multiply traumatized patients, which was last updated in 2016...
July 24, 2017: Deutsches Ärzteblatt International
https://www.readbyqxmd.com/read/28818172/clinical-profile-and-short-term-outcome-of-pediatric-hyperleukocytic-acute-leukemia-from-a-developing-country
#6
Syed Ali Shazif Baqari, Anwarul Haque, Muhammad Shamvil Ashraf, Muhammad Matloob Alam, Zehra Fadoo
This study was conducted to determine the frequency, clinical profile, and short-term outcome of children with hyperleukocytosis at two pediatric oncology centers in Karachi. Of a total 1,045 patients, 13.97% (n=146) patients had hyperleukocytosis. Majority (61.7%, n=90) were under 10 years of age and 76% (n=146) were male. The symptom duration before diagnosis was more than 30 days in 49.3% (n=72). The median WBC count was 181 x109/L(IQR=130.45298.3) and extreme hyperleukocytosis (>200 x109/L) was observed in 44...
July 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28818149/cerebellar-infarction-presenting-with-acute-vestibular-syndrome-in-two-u-s-air-force-pilots
#7
Roger R Hesselbrock
BACKGROUND: Cerebellar infarction is an uncommon but serious cause of isolated acute vestibular symptoms, particularly in young, healthy individuals, and can easily be overlooked. We present two cases of cerebellar infarction in U.S. Air Force pilots, one of which occurred during flight. CASE REPORTS: A 41-yr-old man developed acute vertigo, disequilibrium, nausea, and headache, with progressive slow symptomatic improvement, and presented to medical attention 4 d after symptom onset...
September 1, 2017: Aerospace Medicine and Human Performance
https://www.readbyqxmd.com/read/28817819/progressive-kyphosis-associated-with-tethered-cord-syndrome-treated-by-posterior-vertebral-column-resection-in-a-pediatric-patient
#8
Kadir Oktay, Kerem Mazhar Ozsoy, Yurdal Gezercan, Nuri Eralp Cetinalp, Tahsin Erman
Posterior vertebral column resection is a novel surgical approach for the treatment of progressive kyphosis associated with tethered cord syndrome that was first treated with untethering surgery. A patient with tethered cord syndrome associated with kyphosis first underwent untethering surgery, resulting in progressive kyphosis. Posterior vertebral column resection was performed to correct the kyphosis while shortening the spinal column to prevent the spinal cord from stretch injury. Good correction of kyphosis and reduction of tension on the neural elements were achieved without any neurological deficits...
August 18, 2017: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28816870/spinal-cord-injury-what-are-the-controversies
#9
Christopher S Ahuja, Gregory D Schroeder, Alexander R Vaccaro, Michael G Fehlings
Traumatic spinal cord injuries have a tremendous impact on individuals, families, and society as a whole. Substantial heterogeneity in the patient population, their presentation and underlying pathophysiology has sparked debates along the care spectrum from initial assessment to definitive treatment. This article reviews spinal cord injury (SCI) management followed by a discussion of the salient controversies in the field. Current care practices modeled on the American Association of Neurological Surgeons/Congress of Neurological Surgeons joint section guidelines are highlighted including key recommendations regarding immobilization, avoidance of hypotension, early International Standards for Neurological Classification of SCI examination and intensive care unit treatment...
September 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28816830/fatal-cerebral-edema-seizures-and-hyponatremia-after-trazodone-overdose
#10
Jose David Avila
Trazodone is a serotonin antagonist and reuptake inhibitor that is widely used for the treatment of depression and insomnia. Fatal overdose is rare and usually occurs when combined with other drugs or alcohol. Only a few lethal cases of pure trazodone overdose have been reported, all attributed to cardiotoxicity. We reported a 37-year-old woman who presented after ingesting 6.45 g of trazodone in a suicidal attempt. She was hyponatremic because of the syndrome of inappropriate antidiuretic hormone secretion and, shortly after, had a seizure and developed fatal cerebral edema...
August 14, 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28816001/plasma-and-cerebrospinal-fluid-tau-and-neurofilament-concentrations-in-rapidly-progressive-neurological-syndromes-a-neuropathology-based-cohort
#11
G G Kovacs, U Andreasson, V Liman, G Regelsberger, M I Lutz, K Danics, E Keller, H Zetterberg, K Blennow
BACKGROUND AND PURPOSE: Cerebrospinal fluid (CSF) tau and neurofilament light chain (NF-L) proteins have proved to be reliable biomarkers for neuronal damage; however, there is a strong need for blood-based tests. METHODS: The present study included 132 autopsy cases with rapidly progressive neurological syndromes, including Alzheimer disease (AD) (21), sporadic (65) and genetic (21) Creutzfeldt-Jakob disease (CJD), 25 cases with vascular, neoplastic and inflammatory alterations, and additionally 18 healthy control individuals...
August 16, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28815891/cystic-kidneys-in-fetal-walker-warburg-syndrome-with-pomt2-mutation-intrafamilial-phenotypic-variability-in-four-siblings-and-review-of-literature
#12
Marwa M Nabhan, Nour ElKhateeb, Daniela A Braun, Sungho Eun, Sahar N Saleem, Heon YungGee, Friedhelm Hildebrandt, Neveen A Soliman
Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy secondary to α-dystroglycanopathy with muscle, brain, and eye abnormalities often leading to death in the first weeks of life. It is transmitted in an autosomal recessive pattern, and has been linked to at least 15 different genes; including protein O-mannosyltransferase 1 (POMT1), protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815877/new-intragenic-rearrangements-in-non-finnish-mulibrey-nanism
#13
Florence Jobic, Gilles Morin, Catherine Vincent-Delorme, Estelle Cadet, Rosalie Cabry, Michèle Mathieu-Dramard, Henri Copin, Jacques Rochette, Guillaume Jedraszak
Prenatal growth is a complex dynamic process controlled by various genetic and environmental factors. Among genetic syndromes characterized by growth restriction, MULIBREY nanism represents a rare autosomal recessive condition presenting with severe pre- and post-natal growth failure, characteristic dysmorphic features but normal neurological development. The phenotype of MULIBREY nanism is variable and overlaps with others such as the Silver-Russell syndrome. We report here three patients in two distinct non-Finnish families from North France who were first suspected to have Silver-Russell syndrome which failed to be confirmed on molecular analyses...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#14
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815404/neurological-presentation-of-zika-virus-infection-beyond-the-perinatal-period
#15
REVIEW
Thomas De Broucker, Alexandra Mailles, Jean-Paul Stahl
PURPOSE OF REVIEW: Our purpose was to summarize the current knowledge about the neurological presentation of Zika virus infection after the perinatal period. Other Flaviviruses infections, such as West Nile virus (WNV) or Japanese encephalitis virus (JEV), can result in neuro-invasive disease such as myelitis, encephalitis, or meningitis. We aimed at describing the specificities of ZV neurological infection. RECENT FINDINGS: The recent outbreaks demonstrated clearly the neurotropism of ZV...
August 16, 2017: Current Infectious Disease Reports
https://www.readbyqxmd.com/read/28814874/la-belle-indiff%C3%A3-rence-revisited-a-case-report-on-progressive-supranuclear-palsy-misdiagnosed-as-conversion-disorder
#16
Petra J van Meerkerk-Aanen, Lars de Vroege, David Khasho, Aziza Foruz, J Thies van Asseldonk, Christina M van der Feltz-Cornelis
BACKGROUND: Since the advent of computed tomography and magnetic resonance imaging scans, neurological disorders have less often been falsely labeled as conversion disorder (CD). However, misdiagnosis of a neurological disorder as CD still occurs, especially in cases with insidious onset. Misinterpretation of la belle indifférence may contribute to such misdiagnosis. Here, we describe a case of progressive supranuclear palsy/Richardson's syndrome (PSPS) misdiagnosed as a case of CD. CASE: A 62-year-old woman consulted two different neurologists in 2012 because of falling spells since 2009 and was diagnosed with CD...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28814594/concomitant-carotid-aplasia-and-basilar-artery-occlusion-in-a-child-with-phaces-syndrome
#17
Noel Delgado, Jason J Carroll, Philip M Meyers
We report a case of an 8-year-old girl with posterior fossa abnormalities, haemangioma, arterial lesions, cardiac abnormalities or coarctation of the aorta and eye abnormalities syndrome with right carotid aplasia and complete basilar occlusion. The patient initially presented at 2.5 weeks of age with a growing right facial haemangioma involving segments 1, 3 and 4. Initial MRI at 2.5 weeks of age revealed an extraconal right orbital haemangioma without posterior fossa abnormalities and MR angiography (MRA) 3 weeks later showed right internal carotid aplasia...
August 16, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28813092/congenital-zika-syndrome-an-epidemic-of-neurologic-disability
#18
Alex R Paciorkowski
No abstract text is available yet for this article.
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28812959/periocular-manifestations-of-trigeminal-trophic-syndrome-a-case-series-and-literature-review
#19
Katherine A McVeigh, Morag Adams, Richard Harrad, Rebecca Ford
Trigeminal trophic syndrome (TTS) is a condition whereby persistent facial ulceration presents consequent to central or peripheral insult to the trigeminal nerve. Lesions are created by repetitive self-inflicted manipulation and trauma of dysaesthetic skin within the trigeminal dermatome. We discuss four cases with aetiologies varied from presumed microvascular compromise to resection of cerebral meningioma, cerebrovascular accident, and herpes zoster ophthalmicus. We discuss the management of the under-recognised associated periocular skin ulcerations that result from physical manipulation of dysesthic skin and prove to be persistent and challenging to treat...
August 16, 2017: Orbit
https://www.readbyqxmd.com/read/28811188/familial-1p36-3-microduplication-resulting-from-a-1p-9q-non-reciprocal-translocation
#20
Valentine Marquet, Sylvie Bourthoumieu, Amelia Dobrescu, Cécile Laroche-Raynaud, Catherine Yardin
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.35 Mb microduplication of chromosomal band 1p36.3. The maternal grand-father is also carrier of the same chromosomal rearrangement. Interestingly, the duplicated 1p36.3 segment was found to be localized at the telomeric end of the long arms of a chromosome 9, probably deriving from a 1p36...
August 12, 2017: European Journal of Medical Genetics
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