39501 to 39600 most common queries

List represents a sample of symptoms, diseases, and other queries. Updated weekly.

• Partial Seizures - Often Hemifacial
• Normal B-Cell (CD19+) Count
• Impaired Ig Class Switch Recombination
• IgG and IgA Low
• Major Fluid Shifts May Occur in Severe Cases
• Ovaries Return to Normal Size after Delivery
• Enlarged Multilocular Ovaries
• Zinc Deficiency in Breastfed Offspring Resolves after Weaning
• Breastfed Offspring Have Transient Decrease of Plasma Zinc Levels
• Breast Milk Zinc Decreased
• Balanced Translocation T-12-22: p11.2 - q13.3
• Translocation Disrupting the FBLN1 Gene
• Metatarsal Synostosis (3rd and 4th Digits)
• Syndactyly (2nd, 3rd and 4th Digits)
• Bilateral, Symmetric Malformations
• Metacarpal Synostosis (4th and 5th Digits)
• Synpolydactyly (3rd or 4th Digits)
• Syndactyly (often 3rd and 4th Digits)
• Recurrent Bacterial Infections Beginning in Childhood
• No Opportunistic Infections
• Mean Age at Diagnosis Is 8.8 Years
• Low to Absent IgG IgA IgE
• Occurs Most Often in Developing Countries in Tropical Regions
• Median Age at Onset Is 21 Years
• Mutation in the SPINK1 Gene
• Increased Risk of Pancreatic Cancer
• Intraductal Calculi Especially in the Caput
• Recurrent Abdominal Pain Since Childhood
• Insulin-Dependent but Ketosis-Resistant Diabetes
• Incidence of Fibrocalculous Pancreatic Diabetes Increased
• No Neurologic Sequelae
• Seizures Usually Remit Spontaneously by 12 Months of Age
• Compression Deformities of the Spine
• Prominent Widely-Spaced Incisors
• Rapid-Onset Cataracts
• Peripheral Hypertonia
• Usually Clinically Asymptomatic
• Nerve Biopsy May Show Demyelination and Remyelination
• Non-Progressive Deafness
• Profound Sensorineural Prelingual Deafness
• Cognitive Deficits May Occur
• Delayed Development May Occur
• No History of Familial Hypercholesterolemia
• No Childhood Hypertension
• ECG Pattern Consistent With Acute MI
• Chest Pain Lasts More than 30 Minutes
• >70% Stenosis (Coronary Angiogram)
• History of Coronary Artery Bypass Grafting
• History of Percutaneous Transluminal Coronary Angioplasty
• No Congenital Heart Defect
• No Insulin Dependent Diabetes Mellitus
• Begins in Feet and Legs
• Possibly Foot Deformities
• No Onion Bulb Formations
• Nerve Fiber Density and Thickness Decreased
• Axonal Regeneration on Nerve Biopsy
• Low to Normal Range of Nerve Conduction Velocity
• Cardiac Anomalies (13%)
• Thick Skin (74%)
• Microspherophakia (74%)
• Muscular Build
• Adult Female Height 130-157cm
• Adult Male Height 142 - 169 cm
• Onset in Early Childhood, 2-4 Years
• Occasional Early 'Onion' Bulb Formations
• Thin Myelination
• Regenerating Axons
• Nerve Conduction Velocities Vary from Normal to Decreased
• EMG Shows Neuropathic Changes
• Clumsy Gait
• Normal Early Motor Milestones
• Intrafamilial Phenotypic Variation May Occur
• Visual Acuity Is Normal
• Nystagmus Decreases on Convergence
• Frequency 6 Hz In Lateral Gaze
• Frequency 3.5 Hz in Midline
• Small Rotary Component May be Present
• Jerky, Horizontal, Congenital Nystagmus
• Non-Progressive and More Severe Progressive Forms
• Clinical Variability
• Onset Ranges from Childhood to Adulthood
• No Hypertrophic Cardiomyopathy
• Vital Capacity Due to Muscle Weakness Reduced
• Positive for ATPase Activity at pH=4.3
• Type 1 Fibers with Inclusions Containing MYH7 Protein Aggregates
• Subsarcolemmal Hyaline Bodies in Type 1 Fibers Only
• Muscle Biopsy Shows Type 1 Fiber Predominance
• EMG Shows Myopathy
• Generalized Proximal and Distal Muscle Weakness
• Scapuloperoneal Amyotrophy
• Neurogenic Scapuloperoneal Syndrome
• Caused by Mutation in the Aggrecan 1 Gene
• Progressive Osteoarthropathy (Early Onset)
• Sclerotic Vertebral Bodies
• End-Plate Irregularities
• Anterior Osteophytes
• Stocky Body Habitus
• Proportionate Short Stature (<5th Percentile)
• Multiple Retinal Holes
• Ocular Axial Length Increased