19 results
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 ... #pathophysiology ... #peds #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 

1) Clinical diagnosis Cognitive impairment + loss of autonomy
2)
workup 1) Clinical ... (parkinsonian signs ... Frontotemporal dementia ... hyperorality, - 25% genetic ... Workup #Diagnosis #Geriatrics
Alzheimer’s Disease: Pathogenesis and Clinical Findings
Risk factor for Late Onset Alzheimer's (99% of cases):
 - Increasing
Pathogenesis and Clinical ... chromosome 21) Signs ... AlzheimersDisease #Dementia ... #pathophysiology ... #geriatrics #diagnosis
Lewy Body Dementia: Pathogenesis and Clinical Findings
Lewy Body Dementia is a sub-category of major or mild
Lewy Body Dementia ... Pathogenesis and Clinical ... Clinical manifestations ... #pathophysiology ... #geriatrics #diagnosis
Complications of Measles: Pathogenesis and Clinical Findings
 • ADEM -> Fever, headache, neck stiffness, BBD, mental
Pathogenesis and Clinical ... N/V, elevated liver ... Complications #diagnosis #signs ... #symptoms #pathophysiology
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings
Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
Pathogenesis and Clinical ... Signs/Symptoms/Complications ... #21HydroxylaseDeficiency #21OHD #pathophysiology ... #genetics #endocrinology ... #peds #pediatrics
Brudzinski’s Sign in Meningitis (first described in 19th century by Dr. Josef Brudzinski)

Brudzinski's sign is characterized
Brudzinski’s Sign ... Brudzinski's sign ... While the pathophysiology ... #Meningitis #Clinical ... #PhysicalExam #Pediatrics
Keratoconus: Pathogenesis and Clinical Findings
Genetics
 • Family history of keratoconus
 • Ehlers-Danlos syndrome
 • Down, Turner,
Pathogenesis and Clinical ... Findings Genetics ... > Keratoconus Signs ... • Rizutti's Sign ... #Keratoconus #pathophysiology
Hemophagocytic Lymphohistiocytosis (HLH)
Definition: Overwhelming clinical syndrome associated with excessive macrophage activation and cytokine storm due to
: Overwhelming clinical ... an underlying genetic ... Diagnosis: HLH signs ... Diagnosis via genetic ... lymph node, or liver
X-Linked Agammaglobulinemia: Pathogenesis and clinical findings
The epidemiology of this disease is 1/340,000 births and roughly double
Pathogenesis and clinical ... Signs of immunodeficiency ... Genetic Predisposition ... humoral immunity Signs ... Agammaglobulinemia #XLinked #pathophysiology