Basic Concepts Flashcards
Slipped capital femoral epiphysis is significant for…
Instability of the growth plate of the proximal femur - mostly commonly from fat mass disease (mechanical overload)
SGFE Pnemonic
S: Surgery urgently required
G: Growth plate of the proximal femur is unstable
F: Fat mass disease is the common cause
E: External rotated limb with walking (new onset) due to resistance to internal rotation of the hip.
Marasmus is characterized by…
Total calorie deficit. Emaciated, irritable, thin sparse Hair, Low weight, no edema.
What are essential amnio acids vs non-essential amino acids
Essential amino acids:
TRY THIS VIP MaLL
TRY: tryptophan
THIS: threonine, histidine
VIP: Valine, Isoleucine, Phenylalanine
MaLL: Methionine, Lysine, Leucine
POMC gene mutations lead to
Adrenal crisis in neonatal life due to ACTH deficiency, which is produced from POMC (hypothalamus) as well as alpha-melanocyte-stimulating hormone, which is involved in reducing food intake
Whats Respiratory Quotient for carbs,protein, fats?
RQ: vol of co2 evolved/vol of o2 consumed
Carbs: high intensity, sprinting: 1
Protein: 0.8
Fats: jogging, marathon: 0.7
Ghrelin is secreted by
fundus of the stomach
Legg-calve-perthes disease
idiopathyic avascular necrosis of the femoral head and can be similarly to SCFE; affects younger patients and impairs internal rotation
Prader Willi
It is the most common syndromal cause of genetic obesity.
Not inherited, there is loss of function on chromosome 15.
Hyperphagia, short stature, hypotonia, almond shaped eyes.
Borgeson-Forssman-Lehmann syndrome
is?
X-linked males.
Seizures, large earlobes, short toes, gynecomastia, and small genitals.
Cohen syndrome is?
Autosomal recessive.
Small head size, narrow hands and feet, joint hypermobility, “open mouth” expression, low white blood count, retinal dystrophy, thick hair and eyebrows.
Albright, hereditary osteodystrophy
Short stature, round face, pseudohypoparathyroidism, shortened fourth and fifth metacarpal’s (seen on xray - shorter digits), intellectual disability, impaired olfaction.
Pseudohypoparathyrodism ⇒ leading to hypocalcemia, hyperphosphatemia and elevated PTH level
Bardet-biedl syndrome is…
characterized by microorchidism (men), retinal dystrophy, polydactyl, Renal malformations, polyuria, and polydipsia. Also has obesity and intellectual disability.
Setmelanotide is approved for the treatment of BBS.
Autosomal recessive
What action does adiponectin have directly on coronary vasculature?
Inhibition of monocyte adhesion to endothelial cells, which reduces atherosclerosis.
Adiponectin pearls
- Produced by white adipose tissue
- Increases insulin sensitivity
- Anti-inflammatory
- Decreases hunger
- Increases energy expenditure
What is the obesity paradox?
Patient with overweight or obesity may have lower cardiovascular mortality than patients with normal BMI.
Fat mass disease vs Sick fat disease
Fat mass disease: complications of mechanics and physical stress brought on by extra pounds of weight and force. Ex: OSA, obesity hypoventilation, joint pain, tissue friction.
Sick fat disease: metabolic derangements (abnormal endocrine and immune responses) that often occur as a complication of the disease process of obesity. Ex: Metabolic syndrome, HyperTg, impaired fasting glycemia)
How does b12 deficiency occur after a sleeve gastrectomy?
80% of the stomach is resected in a SG and the majority of the parietal cells are also resected, thus decreasing intrinsic factor production.
B12 is absorbed in the terminal ileum with cofactor intrinsic factor.
what are factors that decrease ghrelin?
- stretching of stomach
- post meals
- status vagotomy or sleeve gastrectomy
- weight gain
- leptin
- carbohydrates fast (rebound)
- protein (prolonged suppression)
What are factors that increase ghrelin levels?
Empty stomach, fasting, weight loss, stress sleep deprivation, Prader Willi syndrome.
What happens with SHBG levels as we age?
increases
How much energy would it take to raise 1 kilogram of water by 1 degree celsius?
it would take 1000 calories = 1 Calorie = 1 kilocalorie = 4.184 kilojoules of energy
What are characteristics of Beckwith-Wiedemann Syndrome?
Fetal overgrowth syndrome presents with enlarged organs (hepatomegaly, splenomegaly, nephromegaly, and macroglossia) and predisposes the patient to tumor growth such as Wilms tumors and hepatoblastoma. Needs frequent surveillance with abdominal ultrasound and tumor markers are necessary.
What is associated with Chromosome 11p15.5 dysregulation?
Beckwith-Wiedemann Syndrome
What early onset obesity syndromes are inherited in an
Autosomal recessive pattern?
Bardet-biedl syndrome, POMC deficiency, congenital leptin deficiency, cohen syndrome (8q22 mutation)
