12 results
diagnosis peds differential genetics neurology physicalexam symptoms syndrome 21hydroxylasedeficiency 21ohd als alzheimersdisease amyotrophic baby brudzinskis dementia disease endocrinology examination floppy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Pathogenesis and clinical ... Prader-Willi Syndrome Signs ... > Neonatal and infantile ... Syndrome #genetics #pathophysiology ... #peds #pediatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings Risk factor for Late Onset Alzheimer's (99% of cases): - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs ... seizure, primitive reflexes ... AlzheimersDisease #Dementia #pathophysiology ... #geriatrics #diagnosis
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski) Brudzinski's sign is characterized
Passive neck flexion causes ... While the pathophysiology ... an involuntary reflex ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics
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 Floppy Baby Syndrome • Infantile Botulism • Acute Flaccid Myelitis • Guillain Barre • Neonatal Myasthenia
Baby Syndrome • Infantile ... Myasthenia Gravis Clinical ... LMN signs - Assess ... tone, resistance, reflexes ... Baby #Syndrome #pediatrics
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
extrapulmonary cases ... Clinical Signs ... years - May have signs ... numbness, decreased reflexes ... Pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... enzyme 21-OHase causes ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... endocrinology #peds #pediatrics
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
combination of the clinical ... lateral sclerosis Pathophysiology ... - Causes progressive ... Increased Jaw Jerk reflex ... neurology #diagnosis #management
Sarcoidosis - Diagnosis and Management Summary Epidemiology 1) High incidence in Scandinavian countries (11-24 cases per 100,000 individuals
survival is 93-95% Pathophysiology ... renal failure Clinical ... symptoms are not caused ... heart (2-5%), liver ... #Signs #Symptoms
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
is also a late sign ... checked for red reflex ... This reflex is not ... the abdomen, the liver ... Examination #Peds #Pediatrics
Retinoblastoma - MRI • Most common intra-ocular neoplasm in children. • Clinical Presentation: leukocoria (loss of
• Clinical Presentation ... loss of red light reflex ... tumours (60-70%) are caused ... bone marrow and liver ... neuroradiology #pediatrics
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