13 results
diagnosis management signs pediatrics syndrome complications physicalexam psychiatry 21hydroxylasedeficiency 21ohd agammaglobulinemia amyotrophic anorexianervosa barre benign bph bulimianervosa comatose disease encephalopathy
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome Signs ... /Symptoms/Complications ... Infertility • Decr Bone ... #pathophysiology ... #peds #pediatrics
Retinoblastoma: Pathogenesis and clinical findings • Sporadic mutation -> One allele of RB1 tumor suppressor gene
gene mutated in all ... Retinoblastoma Signs ... partial retinal red reflex ... Retinoblastoma #pathophysiology ... #symptoms
Pott's Disease in Tuberculosis - Diagnosis and Management Summary Epidemiology: - Typically from TB endemic areas -
cases Clinical Signs ... numbness, decreased reflexes ... Pathophysiology ... of bacilli to bone ... in ALL patients
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
• This is also ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
The Neurological Evaluation of a Comatose Patient Definition: • Coma: a state of unresponsiveness; the absence of
• Mutism Pathophysiology ... horizontal movements; also ... Motor/Sensory: • Tone ... • Examine for signs ... #PhysicalExam #neurology
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings The epidemiology of this disease is 1/340,000 births and roughly double
Signs of immunodeficiency ... Genetic Predisposition ... /Symptoms/Findings ... cells in blood and bone ... Agammaglobulinemia #XLinked #pathophysiology
Amyotrophic Lateral Sclerosis (ALS) Summary ALS: combination of the clinical examination finding of amyotrophy with the pathologic
lateral sclerosis Pathophysiology ... of UMN and LMN signs ... Increased Jaw Jerk reflex ... fasciculations Common Symptoms ... Lateral #Sclerosis #neurology
Posterior Reversible Encephalopathy Syndrome (PRES) Overview Clinico-Radiological Syndrome, characterized by: • Headache • Seizures • Altered mental
may precede the neurologic ... Transplantation including bone ... Etiology: • Pathophysiology ... Neurological symptoms ... edema visualized as
Guillain-Barré Syndrome (GBS) Acute autoimmune demyelinating polyradiculoneuropathy that presents with rapidly progressive flaccid weakness Epidemiology: • Incidence: 1
surgery, trauma, and bone-marrow ... depressed deep tendon reflexes ... after symptom onset ... the underlying pathophysiology ... diagnosis #management #neurology
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
fontanelle is also ... a late sign of ... paediatrician or geneticist ... This reflex is not ... #Examination #Peds
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