Answer: E, ASD

In 1888, Fallot described a congenital heart defect composed of four characteristics (a) large ventricular septal defect (VSD) (b) right ventricular outflow obstruction (pulmonary valve stenosis) (c) overriding aorta (d) right ventricular hypertrophy. The main characteristic of TOF is cyanosis. Hypercyanotic spells or “tet spells” are paroxysmal episodes in which the cyanosis acutely worsens. Crying, feeding, or defecating can bring on these episodes.

Review NCCPA Blueprint Topic: Tetralogy of Fallot

The answer is D: A synovial fluid analysis

A definitive diagnosis of gout is made by demonstrating negatively birefringent, needle-shaped monosodium urate crystals under a polarizing microscope. Although an elevated serum uric acid concentration is often seen in acute gout, it is neither as sensitive nor as specific a test as the demonstration of uric acid crystals in the synovial fluid under a microscope.

Serum uric acid levels can be normal in patients with acute gouty arthritis. The diagnosis of septic arthritis can be ruled out by appropriate Gram stain and culture of the same specimen of synovial fluid obtained for examination with the polarizing microscope.

Review NCCPA Blueprint Topic: Gout and pseudogout (Lecture)

The answer is D: a, b, and c

The differences between Polymyalgia Rheumatica (PMR) and polymyositis on clinical examination are as follows:

• There is marked weakness associated with proximal muscle pain in polymyositis
• There is often marked muscle tenderness (versus joint pain in PMR) associated with the proximal muscle pain in polymyositis
• Laboratory examination reveals elevated muscle enzymes only in polymyositis

Polymyositis Pearls

Polymyositis is an autoimmune-mediated inflammatory destruction of muscles leading to muscle weakness

• Patients with polymyositis experience proximal symmetric (bilateral) muscle weakness
• The shoulders and hips are the parts of the body most commonly affected by polymyositis
• Early fatigue while walking and inability to rise from a seated position

Diagnosis

• The three autoantibodies anti-Jo-1, anti-SRP, and anti-Mi-2, are associated with polymyositis
• Creatine kinase levels are increased in polymyositis
• Electromyography can detect regions of dead muscle cells
• Muscle biopsy can show endomysial inflammation and various stages of necrosis

Treatment

• Initial treatment of polymyositis  involves suppressing the immune response with corticosteroids
• Methotrexate is used for long-term immunosuppressive therapy in polymyositis

Review NCCPA Blueprint Topic: Polymyositis (ReelDx + Lecture)

The answer is A: Paresthesia

Paresthesia is not a feature of botulism while dysphagia, diplopia, and fixed dilated pupils are.

Botulism Pearls

• Caused by a neurotoxin elaborated by Clostridium botulinum a gram-positive bacillus, which is an anaerobic, spore-forming bacteria
• Associated with home-canned food products and honey in infants (wait until babies are at least 12 months before introducing honey)
• Presents with double vision, drooping of eyelids, inability to make facial expressions, and difficulty swallowing
• Autonomic nervous system effects may cause dry mouth, postural hypotension, nausea, vomiting, and constipation
• Can lead to complete flaccid paralysis which is deadly if it involves respiratory muscles
• In infants, symptoms include constipation and generalized weakness, with weak crying, poor feeding, lethargy, and loss of head control (floppy baby syndrome)

Diagnosis

• Diagnosis is by toxin assays
• Sometimes electromyography

Treatment

• Treatment is supportive
• The greatest threat to life is respiratory impairment and its complications
• IV botulinum immunoglobulin/heptavalent botulinum antitoxin
• Correct canning and adequate heating of home-canned food before serving are essential
• Canned foods showing evidence of spoilage and swollen or leaking cans should be discarded

Review NCCPA Blueprint Topic: Botulism

The answer is C: Retinal Detachment

Patients with retinal detachment frequently complain of flashes of light or floaters that occur during traction on the retina as it detaches. This is followed by loss of vision. In small detachments, the retina may appear out of focus, but with larger detachments, a retinal fold may be identified.

• Central retinal vein and artery occlusion cause painless, variable loss of vision. Exam shows retinal hemorrhages in all quadrants and edema of the optic disk
• Hyphema is usually associated with trauma and is a collection of blood in the anterior chamber

Retinal Detachment Pearls

• Retinal detachment is a separation of the neurosensory retina from the underlying retinal pigment epithelium
• Look for sudden increase or change in floaters along with curtain or veil across the visual field
• Often is spontaneous, but may have an underlying cause – example recent cataract surgery
• Myopia (nearsightedness) is a risk factor for the development of retinal detachment
• Retinal detachment is usually unilateral
• Retinal detachment usually presents with defects in the peripheral visual field

Diagnosis

• Diagnosis is by fundoscopy – retinal detachment is visualized as crinkling of retinal tissue and changes in vessel direction
• Ultrasonography may help determine the presence and type of retinal detachment if it cannot be seen with funduscopy

Treatment

• Retinal detachment is an ophthalmologic emergency
• Stay supine (lying face upward) with head turned towards the side of the detached retina
• Pneumatic retinopexy is a procedure for the management of retinal detachment that involves cryoretinopexy followed by injection of an air bubble in the vitreous

Review NCCPA Blueprint Topic: Retinal detachment (Lecture)

The answer is A: The first dose of MMR is given at age 12 – 15 months and a second dose at age 4-6 years

Mumps Pearls

Mumps is a viral disease that is part of the paramyxovirus family. It presents with parotitis (painful parotid gland swelling), orchitis, or aseptic meningitis. It is transmitted through respiratory droplets and has an incubation period of 12-14 days

• Prodrome of fever, malaise, and anorexia
• Parotid enlargement (usually bilateral but not always synchronous) 24 h later
• Swelling of submaxillary and submandibular glands
• Orchitis (usually unilateral) with testicular enlargement two to three times normal size
• Mumps is the most common cause of pancreatitis in children

Diagnosis

• During an outbreak, a diagnosis can be made by determining recent exposure and parotitis. Usually, the disease is diagnosed on clinical grounds, and no confirmatory laboratory testing is needed
• If there is uncertainty about the diagnosis, a test of saliva or blood may be carried out; a newer diagnostic confirmation, using real-time nested (PCR) technology, has also been developed
• As with any inflammation of the salivary glands, the serum level of the enzyme amylase is often elevated
• CSF demonstrates increased lymphocytes and decreased glucose 

Treatment

• There is no available cure for mumps and treatment is supportive
• Symptoms usually last for 7-10 days and patients are contagious for up to 9 days after onset
• May need to provide scrotal support if painful or swollen testicle (as in case presentation)
• MMR vaccine is given at 12-15 months then again at 4-6 years of age

Review NCCPA Blueprint Topic: Mumps

Answer: A, endometriosis, and D Laparoscopy

• Endometriosis, which is the presence of benign endometrial tissue outside of the uterine cavity typically presents as described in this clinical vignette. Remember the “three d’s” – Dyspareunia, dyschezia (difficulty in defecating) and dysmenorrhea
• Definitive diagnosis is made by laparoscopy and confirmed with a biopsy
• Imaging tests (eg, ultrasonography, barium enema, IV urography, CT, MRI) are not specific or adequate for diagnosis. However, they sometimes show the extent of endometriosis and thus can be used to monitor the disorder once it is diagnosed.

Incorrect Answers:

• Patients with PID may have similar symptoms with endometriosis, but also presents with fever and vaginal discharge
• Patients with adenomyosis (a condition in which endometrial tissue exists within and grows into the uterine wall) present with uterine mass with or without pressure symptoms and menorrhagia
• Uterine leiomyomas cause chronic painful bleeding and are common in women in their late thirties and early forties.

Review NCCPA Blueprint Topic: Endometriosis (Lecture)

The answer is C: add ezetimibe 10 mg

If LDL-C is not at goal after 6-12 weeks the next best step for the treatment of familial hypercholesterolemia is to add ezetimibe 10 mg daily and check again in 6-12 weeks. If at that time the patient’s LDL is still not at goal (ideally < 150) refer to lipid specialist to consider adding a PCSK9 inhibitor.

Pearls

• Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease. The clinical syndrome (phenotype) is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and a propensity to early-onset atherosclerotic cardiovascular disease. In general, homozygotes manifest the disease at a much earlier age than heterozygotes and the disease is more severe.
• Homozygous FH patients are rare and have an estimated prevalence of approximately 1:300,000 to 1:400,000
• Heterozygous FH is estimated to occur in 1 in 200 to 250 individuals in the United States.
• It is estimated that about 7 percent of American adults have an untreated lipoprotein cholesterol ≥190 mg/dL but only 1.7 percent carry an FH mutation
• Patients with undiagnosed homozygous familial hypercholesterolemia (FH) develop severe, premature, atherosclerotic cardiovascular disease and die before age 20 in many cases.
• In patients with a negative or unknown family history, an untreated LDL-C level of ≥190 mg/dL (4.9 mmol/L) suggests FH. This value is greater than the 90th percentile for age and sex.

Diagnosis

• The diagnosis of heterozygous familial hypercholesterolemia (FH) is made with genetic testing or clinical criteria. A causative mutation in the LDLR, APOB, or PCSK9 gene(s) secures this diagnosis
• When genetic testing is not available or not felt to be necessary, you can use the Dutch Lipid Clinic Network criteria, which assigns points based on low-density lipoprotein cholesterol (LDL-C) levels, personal history of early atherosclerotic cardiovascular disease (ASCVD), family history of early ASCVD, or high cholesterol in a first-degree relative, and personal and physical examination finding

Treatment

• Patients with homozygous familial hypercholesterolemia (FH) – intensive LDL-C lowering, which targets a minimal value of <150 mg/dL (3.9 mmol/L)
• In addition to a high-dose statin (atorvastatin 80 mg daily or rosuvastatin 40 mg daily), most homozygous patients will require additional therapies such as ezetimibe, a PCSK9 inhibitor, or potentially LDL-C apheresis

Review NCCPA Blueprint Topic: Hypercholesterolemia

The answer is D, after 20 weeks of pregnancy

Preeclampsia is a systemic disease characterized by hypertension that is accompanied by proteinuria. Preeclampsia usually begins after the 20th week of gestation; however, it can appear at any time during pregnancy. It occurs most frequently in the final trimester.

Pearls

• Preeclampsia is a systemic disease characterized by hypertension that is accompanied by proteinuria after the 20th week of gestation.
• If left untreated, preeclampsia can lead to serious, and even fatal, complications.
• Risk factors include nulliparity, age younger than 19 or older than 35, obesity, multiple gestations, positive family history, pre-existing hypertension or renal disease, and diabetes mellitus.
• Eclampsia is defined as the development of seizures in a woman with preeclampsia.

Diagnosis

• Hypertension with proteinuria
• Mild Preeclampsia
  • BP 140/90 – 160/110
  • Proteinuria – > 300 mg/24 hours or > +1 on dipstick
• BP > 160/110
  • Proteinuria > 5g in 24 hours or no urine or 3 +on dipstick
  • ***HELLP SYNDROME – Hemolysis, elevated liver enzymes, and low platelets

Treatment

• Delivery is the only cure for preeclampsia. The decision to induce depends on the stage of pregnancy and the severity of the disease
• Patients with preeclampsia without severe symptoms are generally induced into labor after 37 weeks gestation in severe preeclampsia delivery is performed at 24-26 weeks
• If less than 34 weeks antenatal steroids promote fetal lung development
• Intravenous magnesium sulfate as seizure prophylaxis)

Review NCCPA Blueprint Topic: PANCE Blueprint Reproductive System (7%) ⇒ Hypertension disorders in pregnancy

The answer is A – Tracheal intubation

Tracheal intubation with the lowest level of PEEP is required to maintain the PaO2 above 60 mmHg or SaO2 above 90% in a patient with ARDS

Pearls

Acute respiratory distress syndrome (ARDS) is a type of respiratory failure characterized by fluid collecting in the lungs depriving organs of oxygen

• The underlying abnormality in ARDS is ⇑ Permeability of alveolar-capillary membranes ⇒ development of protein-rich pulmonary edema (non-cardiogenic pulmonary edema)
• ARDS can occur in those who are critically ill or who have significant injuries

Three clinical settings account for 75% of ARDS cases:

• Sepsis syndrome (most common cause)
• Severe multiple trauma
• Aspiration of gastric contents (alcoholics), toxic inhalation, near-drowning

People with ARDS have severe shortness of breath and often are unable to breathe on their own without support from a ventilator

• Occurring 12-24 hours after the precipitating event
• Tachypnea, pink frothy sputum, crackles

Diagnosis

Chest radiograph shows air bronchograms and bilaterally fluffy infiltrate

• Normal BNP, pulmonary wedge pressure, left ventricle function and echocardiogram

Treatment

• Treatment involves identifying and managing underlying precipitation and secondary conditions
• Tracheal intubation with the lowest level PEEP to maintain PaO2 >60 mmHg or SaO2 >90
• ARDS is often fatal, the risk increases with age and severity of illness

Review NCCPA Blueprint Topic: PANCE Blueprint Pulmonary (10%) ⇒ Acute respiratory distress syndrome (Lecture)