Russell-Silver syndrome (RSS)- Growth disorder occurring in approximately 1/50,000 to 1/100,000 birth
- May be associated with the use of assisted reproductive technologies such as in vitro fertilization
- Like other imprinting disorders (e.g. Prader–Willi syndrome, Angelman syndrome, Beckwith–Wiedemann syndrome)
- Symptoms are IUGR combined with some of:
- SGA
- Feeding problems
- Hypoglycemia
- Excessive sweating
- Triangular shaped face with a small jaw and a pointed chin
- Mouth tends to curve down
- A blue tinge to the whites of the eyes
- Head circumference disproportionate to a small body size
- Wide and late-closing fontanelle
- Clinodactyly
- Body asymmetry
- Continued poor growth with no "catch up" into the normal centile lines on growth chart
- Precocious puberty
- Low muscle tone
- Gastroesophageal reflux disease
- A striking lack of subcutaneous fat
- PFO
- Constipation
Dumping syndrome
- Duodenum expands too quickly due to the presence of hyperosmolar food from the stomach
- "Early" dumping begins concurrently or immediately succeeding a meal
- Symptoms include nausea, vomiting, bloating,
cramping, diarrhea, dizziness and fatigue
- "Late" dumping happens 1 to 3
hours after eating
- Symptoms include weakness,
sweating, and dizziness
- Many people have both types
- It is speculated that "early" dumping is associated with difficulty
digesting fats while "late" dumping is associated with carbohydrates
Primary vs Terminal Apnoea
- Primary apnoea is followed by gasping
- Terminal apnoea follows this
- It's really hard to tell which one a baby is in!
Congenital cystic adenomatoid malformation (CCAM)- Congenital disorder similar to bronchopulmonary sequestration
- Usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue
- Fetus with CCAM is closely monitored during pregnancy and the CCAM is
removed via surgery after birth
- Most babies with a CCAM are born without complication and are monitored
during the first few months
- Many patients have surgery, typically
before their first birthday
- It is hypothesized that there
are thousands of people living with an undetected CCAM
Pulmonary sequestration - AKA bronchopulmonary sequestration or cystic lung lesion
- A piece of tissue that ultimately develops into lung
tissue is not attached to the pulmonary arterial blood supply
- This sequestered
tissue is not connected to the normal bronchial airway architecture
- As a result, fails to function in, and contribute to, respiration
Dermoid cyst
- Cystic teratoma
- Contains developmentally mature skin complete with hair follicles and sweat glands, and other tissues
- Almost always benign
- Usually congenital, but may not be identified until later in life
Acute Respiratory Distress Syndrome- Acute onset
- Chest X-Ray: Bilateral diffuse infiltrates of the lungs
- No cardiovascular lesion
- No evidence of left atrial hypertension
- PaO2/FiO2 ratio equal to or less than 200 mmHg
Immunoreactive trypsinogen (IRT)- Used as part of a newborn screening program to screen for an increased risk of cystic fibrosis
- High levels also seen in acute pancreatitis
Notes- Constipation can lead to urinary retention
- PEG = Percutaneous Endoscopic Gastrostomy
- Nifedipine for paediatric HTN
- Bilevel positive airway pressure (BPAP)
- Not BiPAP
- Continuous positive airway pressure (CPAP) mode
- Cerebral Perfusion Pressure (CPP)
- Subtract the intracranial pressure from the mean systemic arterial blood pressure
- Thiopentone
- Rapid-onset short-acting barbiturate general anaesthetic
- Abdominal compartment syndrome
- Occurs when the abdomen
becomes subject to increased pressure
- e.g. sepsis, severe abdominal trauma
- Reduces blood flow to abdominal organs and impairs pulmonary, cardiovascular, renal, and gastro-intestinal (GI) function
- Milrinone
- Phosphodiesterase-3 inhibitor that works to increase contractility in a
failing heart
- Also works to vasodilate vessels which helps
alleviate increased pressures (afterload) on the heart thus improving
the heart's pumping action
- Bosentan
- Dual endothelin receptor antagonist
- Used in the treatment of pulmonary artery hypertension (PAH)
- Potential for hepatotoxicity
- PICC
- Peripherally Inserted Central Catheter
- Meropenem
- Ultra-broad spectrum injectable antibiotic
- Beta-lactam
- Carbapenem => highly resistant to most β-lactamases
- Nutmeg liver from congestive hepatopathy
- Propofol infusion syndrome (PRIS)
- Affects patients undergoing long-term treatment with high doses of propofol
- Can lead to cardiac failure, rhabdomyolysis, metabolic acidosis and renal failure and is often fatal
- Hyperkalemia, hypertriglyceridemia, and hepatomegaly
are also key features
- More prevalent in children
- Clonidine
- Sympatholytic medication used to treat high blood pressure, some pain conditions, ADHD and anxiety/panic disorder
- Centrally acting α2 adrenergic agonist
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