Browse Items (30 total)
- Tags: Differential
The natural history of Unverricht-Lundborg disease: a report of eight genetically proven cases
Tags: 2008, Adolescent, Adult, Age Factors, Atrophy/complications/pathology, Auditory, Backlog, Bhatia KP, Brain Stem/physiology, Brain/pathology/physiopathology, Cerebellar Ataxia/complications/diagnosis, Cerebellum/pathology/physiopathology, Chew NK, Child, Chromosomes, Cordivari C, Dementia/complications/diagnosis, Diagnosis, Differential, Disease Progression, Dystonia/complications/diagnosis, Edwards MJ, Electroencephalography, Electromyography, Evoked Potentials, Evoked Potentials/physiology, Female, Human, Humans, Journal Article, Kim HT, Magnetic Resonance Imaging, Male, Martino D, Mir P, Movement Disorders: Official Journal Of The Movement Disorder Society, Myoclonus/complications/diagnosis, Neuropsychological Tests, Pair 21/genetics, Q3 Scoping Review Results, Quinn NP, Schneider SA, Seizures/complications/diagnosis, Severity Of Illness Index, Unverricht-Lundborg Syndrome/diagnosis/genetics/physiopathology
Lung disease in Niemann-Pick disease
Tags: 2007, Backlog, Biopsy, Bronchoalveolar Lavage, Bronchoalveolar Lavage Fluid/cytology, Child, Clement A, de Villemeur TB, Diagnosis, Differential, Fauroux B, Female, Guillemot N, Humans, Infant, Interstitial/diagnosis/etiology/physiopathology, Journal Article, Lung Diseases, Male, Niemann-Pick Diseases/complications, Pediatric Pulmonology, Preschool, Prognosis, Q3 Scoping Review Results, Radiography, Respiratory Function Tests, Severity Of Illness Index, Thoracic, Troadec C
Late consequences of chronic pediatric illness
Tags: 2007, Adolescent, Arthritis, Backlog, Child, Chronic Disease/psychology, Congenital/diagnosis/epidemiology/psychology, Cystic Fibrosis/diagnosis/epidemiology/psychology, Diagnosis, Differential, Heart Defects, Humans, Journal Article, Juvenile Rheumatoid/diagnosis/epidemiology/psychology, Mental Disorders/diagnosis/epidemiology/etiology, Pao M, The Psychiatric Clinics Of North America, Time Factors, Turkel S
Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management
Tags: 2010, Backlog, Birnkrant DJ, Bushby K, Case LE, Clemens PR, Constantin C, Cripe L, Diagnosis, Differential, DMD Care Considerations Working Group, Duchenne/diagnosis/genetics/therapy, Female, Finkel R, Glucocorticoids/administration & dosage/adverse effects/therapeutic use, Humans, Journal Article, Kaul A, Kinnett K, Lancet Neurology, Male, McDonald C, Muscular Dystrophy, Pandya S, Poysky J, Shapiro F, Tomezsko J
Diagnostic evaluation using whole-body technetium bone scan in children with cerebral palsy and pain.
Tags: 2008, Adolescent, Adult, Backlog, Bajelidze G, Belthur MV, Bone and Bones/radionuclide imaging, Cerebral Palsy/complications/radionuclide imaging, Child, Dabney Kirk W, Diagnosis, Differential, Emission-Computed, Female, Humans, Journal Article, Journal Of Pediatric Orthopedics, Littleton AG, Male, Miller F, Pain Measurement, Pain/etiology/radionuclide imaging, Preschool, Reproducibility of Results, Retrospective Studies, Severity Of Illness Index, Single-Photon/methods, Technetium/diagnostic use, Tomography, Whole Body Imaging/methods
Lack of utility of abdominal x-rays in the evaluation of children with constipation: comparison of different scoring methods
Tags: 2010, Abdominal/methods, Backlog, Buonomo C, Child, Chitkara D, Colon/physiopathology/radiography, Colonic Diseases, Constipation/physiopathology/radiography, Diagnosis, Differential, Fecal Incontinence/physiopathology/radiography, Feces, Female, Fishman L, Functional/physiopathology/radiography, Gastrointestinal Transit, Humans, Journal Article, Journal Of Pediatric Gastroenterology And Nutrition, Male, Nurko S, Observer Variation, Pensabene L, Radiography, Retrospective Studies, ROC Curve, X-Rays
Diagnostic yield of brain biopsies in children presenting to neurology
Tags: 2008, Backlog, Biopsy/statistics & numerical data, Brain Diseases/pathology, Brain/pathology, Child, Children W/SNI, Decision Trees, Diagnosis, Differential, Epilepsy/pathology, Female, Hawkins C, Humans, Infant, Journal Article, Journal of Child Neurology, Likelihood Functions, Male, Neurodegenerative Diseases/pathology, Odds Ratio, Outcome And Process Assessment (health Care), Predictive Value of Tests, Preschool, Retrospective Studies, Vasculitis/pathology, Venkateswaran S, Wassmer E
Gastroesophageal reflux
Tags: 2007, Adolescent, Backlog, Child, Diagnosis, Diagnostic Techniques, Differential, Digestive System, Enzyme Inhibitors/therapeutic use, Gastroesophageal Reflux/complications/diagnosis/physiopathology/therapy, Histamine H2 Antagonists/therapeutic use, Humans, Infant, Journal Article, Medical History Taking/methods, Michail S, Nervous System Diseases/complications, Nutritional Failure, Pediatrics In Review / American Academy Of Pediatrics, Pediatrics/methods, Preschool, Prognosis, Proton Pumps/antagonists & inhibitors, Respiratory Tract Diseases/etiology/prevention & control, Vomiting/diagnosis/etiology
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Tags: 2006, Amino Acid Metabolism, Amino Acids/blood, Backlog, Bellizzi A, Burlina AB, Burlina AP, Child, Di Palma A, Diagnosis, Differential, Fatal Outcome, Humans, Inborn Errors/diagnosis, Journal Article, Journal Of Inherited Metabolic Disease, Male, Morrone A, Ornithine Carbamoyltransferase Deficiency Disease/blood/diagnosis, Ornithine Carbamoyltransferase/deficiency, Orotic Acid/urine, Peduto A, Preschool, Q3 Scoping Review Results, Sperli D
Decisions in diagnosing and managing chronic gastroesophageal reflux disease in children
Fetal alcohol spectrum disorder: Canadian guidelines for diagnosis
Tags: 2005, Abnormalities, Adult, Alcohol Drinking/prevention & control, Alcoholism/diagnosis/prevention & control, Backlog, Canada/epidemiology, Canadian Medical Association Journal, Child, Chudley AE, Conry J, Cook JL, Diagnosis, Differential, Ethanol, Female, Fetal Alcohol Syndrome/diagnosis/epidemiology/prevention & control, Humans, Infant, Journal Article, LeBlanc N, Loock C, Mass Screening/standards, Medical History Taking/standards, Multiple/diagnosis, Nervous System Diseases/diagnosis, Newborn, Non-U.S. Gov't, Physical Examination/standards, Pregnancy, Pregnancy Complications/diagnosis/prevention & control, Prenatal Exposure Delayed Effects, Public Health Agency of Canada's National Advisory Committee on Fetal Alcohol Spectrum Disorder, Referral and Consultation/standards, Research Support, Risk Factors, Rosales T
Distinguishing starvation from cachexia
Early peripheral nervous system manifestations of infantile Krabbe disease
Tags: 2003, Backlog, Biopsy, Demyelinating Diseases/pathology/physiopathology, Diagnosis, Differential, Dor-Wollman T, Family Health, Female, Globoid Cell/pathology/physiopathology, Humans, Hurvitz H, Inclusion Bodies/pathology, Infant, Journal Article, Korn-Lubetzki I, Leukodystrophy, Male, Nevo Y, Pediatric Neurology, Peripheral Nervous System/pathology/physiopathology, Raas-Rothschild A, Retrospective Studies, Schwann Cells/pathology, Soffer D
Peripheral blood mononuclear cell beta-endorphin concentration is decreased in chronic fatigue syndrome and fibromyalgia but not in depression: preliminary report
Tags: 2002, Adult, Backlog, beta-Endorphin/blood/immunology/metabolism, Biomarkers of Pain, Chronic/blood/diagnosis/immunology, Depression/blood/diagnosis, Diagnosis, Differential, Fatigue Syndrome, Female, Fibromyalgia/blood/diagnosis/immunology, Giamberardino MA, Humans, Journal Article, Leukocytes, Male, Meroni P, Mononuclear/immunology/metabolism, Panerai AE, Panzeri P, Pizzigallo E, Reproducibility of Results, Sacerdote P, Scarone S, Sensitivity and Specificity, The Clinical Journal Of Pain, Vecchiet J
Infantile systemic hyalinosis or juvenile hyaline fibromatosis?
Infantile neuroaxonal dystrophy (Seitelberger's disease)
Tags: 2002, Auditory, Backlog, Brain Stem/physiology, Brain/pathology/physiopathology, Developmental Medicine and Child Neurology, Diagnosis, Differential, Disease Specific, Electroencephalography, Evoked Potentials, Gordon N, Humans, Journal Article, Magnetic Resonance Imaging, Neuroaxonal Dystrophies/complications/diagnosis, Pantothenate Kinase-Associated Neurodegeneration/diagnosis, Seizures/diagnosis/etiology, Visual/physiology
New guidelines for the management of migraine in primary care
Tags: 2002, algorithms, Backlog, Current Medical Research And Opinion, Diagnosis, Differential, Dowson AJ, Humans, Journal Article, Lipscombe S, Medical History Taking, Migraine Disorders/diagnosis/prevention & control/therapy, Migraine In Primary Care Advisors (MIPCA) - Migraine Guidelines Development Group, Non-U.S. Gov't, Patient Care Team, Patient Education, Primary Health Care, Questionnaires, Rees T, Referral And Consultation, Research Support, Sender J, Watson D
Classification and definition of disorders causing hypertonia in childhood
Tags: 2003, Backlog, Child, Delgado MR, Diagnosis, Differential, Dystonia/complications/diagnosis, Gaebler-Spira D, Hallett M, Humans, Infant, Journal Article, Mink JW, Muscle Hypertonia/classification/etiology/physiopathology, Muscle Rigidity/complications/diagnosis, Muscle Spasticity/complications/diagnosis, Pediatrics, Preschool, Reproducibility of Results, Sanger TD, Severity Of Illness Index, Task Force on Childhood Motor Disorders
Cataplexy in variant forms of Niemann-Pick disease
Tags: 1982, Adult, Annals Of Neurology, Backlog, Cataplexy/complications/diagnosis, Child, Diagnosis, Differential, Electroencephalography, Emerson RG, Epilepsy/diagnosis, Female, Humans, Journal Article, Kandt RS, Male, Moser HW, Niemann-Pick Diseases/complications/diagnosis, Ophthalmoplegia/complications, Preschool, REM, Singer HS, Sleep, Splenomegaly/complications, Valle DL
Systemic carnitine deficiency--a treatable inherited lipid-storage disease presenting as Reye's syndrome
Tags: 1980, Angelini C, Backlog, Brown WJ, Carnitine/deficiency/metabolism/therapeutic use, Cederbaum SD, Chapoy PR, Child, Diagnosis, Differential, Humans, Inborn Errors/diagnosis, Journal Article, Lipid Metabolism, Liver/metabolism, Male, Muscles/metabolism, Preschool, Q3 Scoping Review Results, Reye Syndrome/diagnosis, Shug AL, Stiff JE, The New England Journal Of Medicine
Myopathy with mitochondrial changes presenting as respiratory failure in two brothers
Tags: 1999, Backlog, Biopsy, Child, Diagnosis, Differential, Fatal Outcome, Humans, Interstitial/diagnosis/pathology, Journal Article, Lemos AB, Lung Diseases, Male, Mate A, Mitochondrial Myopathies/diagnosis/genetics/pathology, Mosquera J, Needle, Nuclear Family, Pediatric Pulmonology, Q3 Scoping Review Results, Respiratory Function Tests, Respiratory Insufficiency/etiology, Sirvent J
Niemann-Pick disease type C: Two cases and an update.
Tags: 2000, Adolescent, Age of Onset, Backlog, Cells, Cholesterol/metabolism, Cultured, Diagnosis, Differential, Disease Progression, Esterification, Female, Fibroblasts/metabolism, Humans, Jankovic J, Journal Article, Longitudinal Studies, Male, Middle Aged, Movement Disorders: Official Journal Of The Movement Disorder Society, Niemann-Pick Diseases/diagnosis/physiopathology, Skin/pathology, Uc EY, Wenger DA
Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis
Tags: 1994, Acute Disease, Adrenoleukodystrophy/diagnosis/drug therapy/genetics, Backlog, Brain & Development, Diagnosis, Differential, Donati MA, Encephalitis/diagnosis, Erucic Acids/therapeutic use, Fanelli F, Fatty Acids/blood, Fonda C, Humans, Infant, Journal Article, Linkage (Genetics), Male, Pazzaglia R, Q3 Scoping Review Results, Tomography, Tucci F, X Chromosome, X-Ray Computed, Zammarchi E
Update on genetic disorders affecting white matter
Sleep disorders in children with neurologic diseases
Tags: 2001, Anticonvulsants/therapeutic use, Backlog, Blindness/complications, Bruni O, Child, Diagnosis, Differential, Epilepsy/complications, Headache/complications, Humans, Journal Article, Melatonin/therapeutic use, Mental Retardation/complications, Muscular Dystrophies/complications, Nervous System Diseases/complications, Preschool, Q3 Scoping Review Results, Seminars In Pediatric Neurology, Sleep Disorders/etiology, Zucconi M
Practice parameter: screening and diagnosis of autism: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Child Neurology Society
Tags: 2000, Accardo PJ, Ashwal S, Asperger Syndrome/diagnosis, Autistic Disorder/diagnosis/genetics, Backlog, Baranek GT, Child, Childhood/diagnosis, Cook EH, Dawson G, Developmental Disabilities/diagnosis, Diagnosis, Differential, Disease Management, Electrophysiology, Filipek PA, Gordon B, Gravel JS, Humans, Infant, Johnson CP, Journal Article, Kallen RJ, Lead Poisoning, Levy SE, Mass Screening/methods/standards, Minshew NJ, Nervous System, Neurology, Neuropsychological Tests, Non-U.S. Gov't, Ozonoff S, P.H.S., Predictive Value of Tests, Preschool, Prizant BM, Rapin I, Research Support, Risk Assessment, Rogers SJ, Stone WL, Teplin SW, Tuchman RF, U.S. Gov't, Volkmar FR
Neuromuscular disorders of childhood
Tags: 1999, Andersson PB, Backlog, Charcot-Marie-Tooth Disease/diagnosis/physiopathology, Child, Current Opinion In Pediatrics, Diagnosis, Differential, Human, Journal Article, Muscular Dystrophies/diagnosis/genetics, Myasthenia Gravis/diagnosis, Neuromuscular Diseases/diagnosis/physiopathology/therapy, Peripheral Nervous System Diseases/diagnosis, Rando TA, Spinal Muscular Atrophies of Childhood/diagnosis
Cerebral palsy and neurodegenerative disease
An update on the leukodsytrophies
Tags: 2001, Adult, Backlog, Boespflug-Tanguy O, Brain Diseases, Child, Current Opinion in Neurology, Diagnosis, Differential, Diseases/diagnosis/genetics, Glial Fibrillary Acidic Protein/genetics, Hereditary Central Nervous System Demyelinating, Human, Inborn/diagnosis/genetics, Journal Article, Metabolic, Myelin Proteolipid Protein/genetics, P.H.S., Schiffmann R, Support, U.S. Gov't