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CreatorTitleDescriptionSubjectDate
1 Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J.Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
2 Kriesel, John D.; Maulden, Sarah Annamarie; Spruance, Spotswood L.Anti-interleukin-6 antibodies inhibit herpes simplex virus reactivation.Herpes simplex viruses (HSVs) infect epithelial cells, become localized in neurons, and can reactivate in response to a variety of stimuli, including ultraviolet light and hyperthermia. The sequence of gene activation during viral replication is known, but the molecular linkage between exogenous sti...Mice, Inbred BALB C; Tumor Necrosis Factor-alpha; Virus Activation1997
3 Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
4 Agarwal, NiveditaBrain function monitoring during off-pump cardiac surgery: a case reportBackground: Early postoperative stroke is an adverse syndrome after coronary bypass surgery. This report focuses on overcoming of cerebral ischemia as a result of haemodynamic instability during heart enucleation in off-pump procedure. Case presentation: A 67 year old male patient, Caucasian race, ...2008
5 Jaeckle, Kurt A.; Digre, Kathleen B.; Jones, Christopher R.; Bailey, Peter L.Central neurogenic hyperventilation: pharmacologic intervention with morphine sulfate and correlative analysis of respiratory, sleep, and ocular motor dysfunction.Central neurogenic hyperventilation (CNH), for which there is no effective therapy, can eventually result in respiratory fatigue and death. This report describes a patient with CNH due to a brainstem anaplastic astrocytoma who also exhibited disturbances of sleep and ocular motor function. The CNH r...Central Neurogenic H yperventilation; Ocular Motor Dysfunction1990-11
6 Digre, Kathleen B.; Schmidt, Richard H.; Osborne, Anne G.; Patel, Bhupendra C.; Pratt, David; Rietz, Lisa A.Compressive optic neuropathy caused by renal osteodystrophy. Case report.Compressive optic neuropathy with acute or chronic vision loss has been associated with various skull base tumors, aneurysms, Graves disease, trauma, and, less commonly, fibrous dysplasia and osteopetrosis. The Author's present a case of acute visual deterioration in a 25-year-old woman who had mass...Optic Neuropathy; Optic Nerve Decompression; Renal Osteodystrophy2001-10
7 Digre, Kathleen B.; Mamalis, Nick; White, George L. Jr.Congenital anomalies of the optic nerve in one family.We present three cases of congenital optic disc anomalies in one family who underwent an extensive diagnostic workup to exclude any intracranial pathology. One patient had elevated optic nerve heads and was hospitalized for multiple diagnostic tests including a lumbar puncture and magnetic resonance...Optic Nerve; Congenital Anomalies1992-04-24
8 Levy, James A.Context-specific memory and apolipoprotein E (ApoE) epsilon 4: cognitive evidence from the NIMH prospective study of risk for Alzheimer's disease.The aim of the study was to determine whether the epsilon 4 allele of the apolipoprotein E (ApoE) gene was associated primarily with context-specific memory among individuals at genetic risk for developing Alzheimer's disease. The effect of ApoE status on comprehensive neuropsychological results was...Alleles; Apolipoprotein E4; Mental Status Schedule2004-05-10
9 Kriesel, John D.; Baringer, J R; Spruance, Spotswood L.Correlation between detection of herpes simplex virus in oral secretions by PCR and susceptibility to experimental UV radiation-induced herpes labialis.We examined the oral secretions of 25 patients for herpes simplex virus (HSV) at the time of and following experimental UV radiation (UVR). HSV was detected in one or more oral secretion specimens in 5 of 12 (42%) cases by cell culture and in 8 of 12 (67%) cases by PCR. On the day of UVR, HSV was de...Polymerase Chain Reaction; Ultraviolet Rays; Simplexvirus1994
10 Varner, Michael W.; Digre, Kathleen B.Cranial magnetic resonance imaging in eclampsia.Although the precise neuropathologic basis for eclamptic convulsions remains unclear, intracranial hemorrhage is frequently associated with fatal cases. Magnetic resonance imaging (MRI) is a recently developed neuroimaging technique that appears superior to other processes for defining intracranial ...Eclampsia; Brain Edema; Cranial Magnetic Resonance Imaging1987-09
11 Digre, Kathleen B.CT and hemifacial spasm.Forty-six patients with typical hemifacial spasm had CT. Thirty-eight (83%) were abnormal, including two with surgically documented tumors. Thirty-six had a characteristic dolichoectatic vertebrobasilar artery, with the convexity pointing to the side of the spasm in 92% of the scans. This study sugg...Hemifacial spasms; Tumors; Dolichoectiatic vertebrobasilar artery1988-07
12 Bernstein, Paul S.; Zabriskie, Norman A.; Zhang, Kang; Leppert, Mark F.Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 genePURPOSE: A 5-bp deletion in ELOVL4, a photoreceptor-specific gene, has been associated with autosomal dominant (ad) macular dystrophy phenotypes in five related families, in which phenotypes range from Stargardt-like macular dystrophy (STGD3; Mendelian Inheritance in Man 600110) to pattern dystrophy...Linkage (Genetics); Middle Aged; Phenotype2001
13 Digre, Kathleen B.; Blumenthal, Deborah T.; Salzman, Karen L.; Jensen, Randy L.; Dunson, William A.Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-assoc...Paraneoplastic neurologic disorders; Encephalitis; Neoplasm;Herpes Simplex2006-07-11
14 Digre, Kathleen B.; Blumenthal, Deborah T.; Salzman, Karen L.; Jensen, Randy L.; Dunson, William A.Early pathologic findings and long-term improvement in anti-Ma2-associated encephalitis.A 67-year-old man sequentially developed anti-Ma2-associated paraneoplastic encephalitis (PNE) and contralateral herpes simplex encephalitis (HSE). Brain biopsy 1 month before HSE revealed extensive infiltrates of T cells, B cells, and plasma cells. Most T cells expressed the cytotoxic granule-assoc...Paraneoplastic neurologic disorders; Encephalitis; Neoplasm;Herpes Simplex2006-07-11
15 Jones, Bryan W.; Jones, Christopher R.; Czajkowski, LauraFamilial advanced sleep-phase syndrome: a short-period circadian rhythmvariant in humansBiological circadian clocks oscillate with an approximately 24-hour period, are ubiquitous, and presumably confer a selective advantage by anticipating the transitions between day and night. The circadian rhythms of sleep, melatonin secretion and body core temperature are thought to be generated by ...Activity Cycles; Matched-Pair Analysis; Polysomnography1999
16 Bernstein, Paul S.; Leppert, Mark F.Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli...DNA Mutational Analysis; Nuclear Family; Phenotype2002
17 Digre, Kathleen B.; Kleinschmidt, Julia J.; Hanover, RitaIdiopathic intracranial hypertension. Relationship to depression, anxiety, and quality of lifeOBJECTIVE: To explore the incidence of depression and anxiety and to measure quality of life in women with idiopathic intracranial hypertension (IIH), a matched group cross-sectional study was conducted. Women with IIH (n = 28) were compared with control groups of weight- and age-matched women not d...Intracranial Hypertension; Depression; Anxiety; Quality of Life2000-01-25
18 Rodin, Ernst A.Interictal infraslow activity in patients with epilepsyObjective: To evaluate if interictal infraslow activity (ISA), as obtained from a conventional EEG system, can contribute information about the epileptogenic process. Methods: The entire long-term intracranial monitoring sessions of 12 consecutive patients were evaluated on an XLTEK system for ISA. ...2014-01-01
19 Foster, Norman L.Justifying reimbursement for Alzheimers diagnostics and treatments: Seeking alignment on evidenceThe increasing cost of health care combined with expensive new drugs and diagnostics is leading to more frequent gaps between regulatory and reimbursement approval decisions. As a result, persons with Alzheimer's disease may have difficulty accessing the benefits of medical advances. In contrast to ...2014-01-01
20 Smith, A. Gordon; Singleton, J. RobinsonLifestyle intervention for pre-diabetic neuropathy.OBJECTIVE: The purpose of this study was to evaluate intraepidermal nerve fiber density (IENFD) as a sensitive measure of neuropathy change in patients with neuropathy associated with impaired glucose tolerance (IGT) receiving lifestyle intervention based on that used in the Diabetes Prevention Prog...Aged; Biopsy; Blood Pressure; Body Mass Index; Cholesterol; Diabetic Diet2006-06-29
21 Agarwal, NiveditaMicrostructural thalamic changes in schizophrenia: a combined anatomic and diffusion weighted magnetic resonance imaging studyObjective: Several magnetic resonance imaging (MRI) and postmortem studies have supported the role of the thalamus in the pathophysiology of schizophrenia. Interestingly, a recent small diffusion weighted imaging (DWI) study showed abnormal thalamic microstructure in patients with schizophrenia. The...2008-01-01
22 Singleton, J. Robinson; Smith, A. GordonMicrovascular complications of impaired glucose tolerance.Impaired glucose tolerance (IGT) serves as a marker for the state of insulin resistance and predicts both large- and small-vessel vascular complications, independent of a patient's progression to diabetes. Patients with IGT are at significantly increased risk for death and morbidity due to myocardia...Microcirculation; Humans2003-12-01
23 Digre, Kathleen B.; Skuster, Denise Z.Neurologic conditions presenting as psychiatric disorders.Understanding underlying neuroanatomic function helps physicians to localize defects and search for treatable neurologic conditions. Neurologic conditions such as Huntington's chorea, Wilson's disease, Gille de la Tourette syndrome, brain tumors, encephalitis and meningitis, neurodegenerative condit...Psychiatric Diagnosis; Neurologic Disease1992-06-15
24 Digre, Kathleen B.Not so benign intracranial hypertension.Despite many controversies, intracranial hypertension due to use of doxycycline does occur. Practitioners prescribing the tetracyclic antibiotics should be aware of the syndrome of increased intracranial pressure, and pay particular attention to the ocular fundus for papilloedema. Appropriate referr...Venous Occusion; Venous Hypertension; Tetracycline, Doxycycline; Minocycline2003-03-22
25 Foster, Norman L.Novel insertional presenilin 1 mutation causing Alzheimer disease with spastic paraparesis.A four-generation pedigree exhibiting early-onset autosomal dominant Alzheimer disease (AD) with spastic paraplegia, dystonia, and dysarthria due to a novel 6-nucleotide insertional mutation in exon 3 of the presenilin 1 gene (PS1) is described. Serial examinations, PET scans, and autopsy revealed t...Aged, 80 and over; Membrane Proteins; Neuropsychological Tests2004-05-25
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