8 results
differential pathophysiology physicalexam 21hydroxylasedeficiency 21ohd algorithm asthma chronic classification dementia developmentaldelay endocrinology evaluation examination febrile fever geriatrics infant kleefstra management
The Febrile Child - some diagnostic clues to evaluating the febrile child. #Febrile #Fever #Evaluation #Assessment #Signs
Febrile Child - some diagnostic ... clues to evaluating ... Fever #Evaluation #Assessment ... #Signs #Symptoms ... #Peds #Pediatrics
Prader-Willi Syndrome: Pathogenesis and clinical findings • Maternal uniparental disomy: inheriting 2 copies of maternal chromosome
Prader-Willi Syndrome ... Signs/Symptoms ... delayed puberty -> Infertility ... #genetics #pathophysiology ... #peds #pediatrics
Causes of Developmental Delay - Differential Diagnosis Algorithm Isolated Domain Delay - Reduced Respiratory Drive: • Cognitive
Causes of Developmental ... - Differential Diagnosis ... • Genetic Disorder ... #Algorithm #Causes ... #Peds #Pediatrics
Assessment of the Child with Chronic Asthma Are there other allergic disorders? - Allergic rhinitis - Eczema,
Assessment of the ... Other causes should ... and frequency of symptoms ... #diagnosis #peds ... #pediatrics #primarycare
21-Hydroxylase Deficiency (21-OHD): Pathogenesis and Clinical Findings Autosomal recessive mutation in CYP21A2 coding for the enzyme 21-OHase
enzyme 21-OHase causes ... Signs/Symptoms/Complications ... pathophysiology #genetics ... endocrinology #peds ... #pediatrics
Major neurocognitive disorders (MNCD): Diagnosis and workup 1) Clinical diagnosis Cognitive impairment + loss of autonomy 2)
neuropsychological assessment ... Alzheimer - 1st cause ... Aphaso-apraxo-agnosia syndrome ... hyperorality, - 25% genetic ... #Geriatrics #Workup
Kleefstra Syndrome is a rare genetic disorder, caused by a EHMT-1 gene deletion or mutation. Most kids
is a rare genetic ... disorder, caused ... #Diagnosis #Management ... #PatientInfo #Peds ... #Pediatrics #Kleefstra
Newborn Infant - Routine Examination Birthweight, gestational age and birthweight percentile are noted. General observation Of the baby's
When the diagnosis ... paediatrician or geneticist ... always needs urgent assessment ... #Examination #Peds ... #Pediatrics #Diagnosis
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