Ca Lâm Sàng 2

Acute stress disorder is often manifested by similar symptoms since in PTSD including flashbacks, nightmares, and changes in arousal. However, the key differentiation is that in acute stress disorder, symptoms persist for less than one month. After a month, an individual may be evaluated for PTSD.

Although adjustment disorder can be characterized by the same symptoms as PTSD, one must determine whether the stressor is life-threatening and whether the reaction is extreme. In this case, her symptoms are too extreme for adjustment disorder especially given the severe trauma she has experienced.

Brief psychotic disorder is characterized by symptoms similar to schizophrenia, such as hallucinations, delusions, and disorganized speech. To diagnose brief psychotic disorder, symptoms must be present for less than a month.

Although often patients with PTSD may have a co-morbid psychiatric disorder, from the vignette, the patient does not experience neurovegetative symptoms or depressed mood that would meet criteria for a diagnosis of major depressive disorder.

Major takeaway
Post-traumatic stress disorder may be seen in patients after exposure to severe traumatic events and manifests as flashbacks, nightmares, hyperarousal, and patterns of avoidance. The duration of symptoms must be at least a month to meet diagnostic criteria.

Main explanation
Post-traumatic stress disorder is characterized by a history of exposure to a traumatic event that meets specific stipulations and symptoms from each of four symptom clusters: intrusion, avoidance, negative alterations in cognitions and mood, and alterations in arousal and reactivity. For example, a patient suffering from PTSD will often experience intrusive thoughts, nightmares, and flashbacks relating to the past traumatic events. They may report hyper-vigilance, sleep disturbances, and a clear avoidance of reminders of the trauma.

For diagnosis, symptoms must persist for greater than a month. If symptoms are less than a month, it is diagnosed as an acute stress disorder. Symptoms also must lead to significant functional distress.

Major takeaway
Adhesive capsulitis is commonly characterized by pain and restricted active and passive range of motion of the shoulder. Treatment usually consists of nonsteroidal anti-inflammatory drugsbut can also include steroid injections and surgical intervention.
Main explanation
Adhesive capsulitis, or frozen shoulder, is an idiopathic condition that causes pain and restricted range of motion of the shoulder. Adhesions from within joint capsule cause the pain and restricted movement associated with the condition. It is thought that prolonged immobility, inflammation, or even autoimmunity may play a role in its pathogenesis. The most indicative sign of adhesive capsulitis is restricted passive range of motion which is preserved in most other forms of shoulder pathology. Adhesive capsulitis manifests in three stages. The first stage is usually pain with movement and general shoulder discomfort, whereas the second stage is less painful but has more restriction of movement. The final stage is a resolution period during which the pain and restriction of movement improve. Adhesive capsulitis tends to resolve spontaneously over a period of months but does not always fully resolve. Treatment consists of nonsteroidal anti-inflammatory drugs, steroid injections, and surgical intervention in the most severe cases. While adhesive capsulitis is idiopathic, risk factors include diabetes mellitus, thyroid disease, scleroderma, myocardial infarction, and trauma.

The most common type of shoulder dislocation, these often are accompanied by a history of trauma. These patients are characterized by the arm slightly abducted and externally rotated along with a prominent humeral head, poor range of motion, and significant pain.

Osteoarthritis of the glenohumeral joint is uncommon. When present, it is usually accompanied by trauma or a history of repetitive motions of the shoulder. These patients have pain with movement though usually preserve their range of motion, and crepitus can sometimes be felt over the affected joint.

Patients with rotator cuff tears have restricted active range of motion and preserved passive range of motion. The history will often also include an acute injury or repeated strenuous activity to the shoulder such as swimming or pitching.

Septic joints are often characterized by fever, malaise, and significant erythema of the affected joint, and there may be a history of trauma. Suspected septic joints must be aspirated for immediate diagnosis and treated with surgical drainage to prevent damage to joint cartilage.

Malar rash is a skin rash commonly associated with systemic lupus erythematosus. Congenital lupus is classically characterized by heart block. Stillbirth and miscarriages are also common.

Major takeaway
Congenital syphilis is characterized by an absent nasal bridge, saber shins, rhinorrhea, disseminated rash, failure to thrive, and Hutchinson teeth.

Main explanation
In this clinical vignette, the patient comes to the emergency department with the characteristic red-brown papulomacular rash on her hands that is indicative of secondary syphillis. Associated symptoms include fatigue, lymphadenopathy, fever, and myalgias. Syphilis in a pregnant woman can be vertically transmitted to the fetus. Diagnosis of syphilis is made through the use of non-treponemal serum screens (rapid plasma reagin or venereal diseaseresearch laboratory test), treponemal specific tests (fluorescent treponemal antibody absorption or Treponema pallidum particle agglutination assay), and direct visualization via dark field microscopy. Treatment for syphilis (primary and secondary) is one dose of pencillin G. Congenital syphilis is characterized by an absent nasal bridge, saber shins, rhinorrhea, disseminated rash, failure to thrive, and Hutchinson teeth.

DiGeorge syndrome is characterized by a deletion of the 22q11.2 gene. Patients with DiGeorge syndrome is characterized by abnormal facies, cleft lip and palate, and hypocalcemia.

Blue sclera is a symptom commonly associated with osteogenesis imperfecta. Bony deformities and abnormal facies are also often seen in patients with osteogenesis imperfecta.

Chorioretinits is associated with congenital cytomegalovirus or congenital Toxoplasma gondii infection. Periventricularcalcifications and hearing loss is also common with congenital cytomegalovirus infection.

Ductal carcinoma in situ (DCIS) is a type of noninvasive breast cancer. It rarely appears as a palpable mass and is most often first detected on mammography due to the presence of microcalcifications.

Intraductal papillomas are small papillary growths found within a duct. The most common first symptom is serous or bloody nipple discharge. Nipple retraction is rare.

Lobular carcinoma in situ (LCIS) is a type of noninvasive breast cancer that does not form a palpable mass and is rarely diagnosed on mammography. It is usually found as an incidental finding on breast biopsy.

Phyllodes tumors arise from periductal stroma that appear as smooth, multinodular, painless breast lumps. They can be differentiated from fibroadenomas by large size or rapid growth.

Major takeaway
Simple fibroadenomas are benign solid tumors of the breast most commonly found in young women. They are characterized by a well-defined, rubbery, mobile mass and can usually be monitored with serial breast ultrasounds.

Main explanation
Simple fibroadenomas are benign solid tumors that are often found in young women. They are most common in women between the ages of 15-35.

Unless very large, fibroadenomas typically cause few symptoms. They are usually characterized by a well-defined round, rubbery, and mobile mass that appear solid on ultrasound. In the majority of cases, fibroadenomas are not associated with an increased risk of breast cancer and can be followed with serial ultrasounds. For women with a strong family history of breast cancer or with a rapidly growing lesion, biopsy is recommended. If symptomatic, fibroadenomas can be managed by surgical excision or cryoablation.

Benztropine is an anticholinergic medication that can help control tremor. It is a much-used drug, especially in the younger population with Parkinson’s disease. However, it would not be the most effective addition to this patient’s medication regimen.

Entacapone and tolcapone are COMT inhibitors that can increase the efficacy of levodopa by increasing its serum levels. However, these are only recommended when the patient has motor fluctuations on initial therapy. Major adverse effects include diarrhea.

Ropinirole is a dopamine agonist that can delay the development of levodopa-induced dyskinesia. Adverse effects include nausea, hypotension, hallucinations, and somnolence.

Major takeaway
In the treatment of Parkinson’s disease, carbidopa is almost always co-prescribed with levodopa to prevent its metabolism into dopamine outside of the CNS. This leads to increased drug action in the brain as well as greatly reduced side effects, particularly gastrointestinal.

Main explanation
Levodopa is the most effective drug for the treatment of Parkinson’s disease (PD). It helps manage bradykinetic symptoms as well as tremor and rigidity. However, it must first be converted to dopamine to achieve its effects. Carbidopa is a peripheral decarboxylase inhibitor that prevents peripheral conversion of levodopa into dopamine (which cannot cross the blood-brain barrier), and therefore increases the availability of levodopa in the CNS.
This set-up is necessary because levodopa, but not dopamine, can cross the blood brain barrier. By decreasing peripheral conversion, carbidopa increases the systemic concentration of levodopa and thus the amount getting to the brain. It also decreases the peripheral effects of dopamine including nausea, vomiting, and orthostatic hypotension.
Many doctors will automatically prescribe a combined carbidopa-levodopa pill.

Selegiline is a nonselective MAO-B inhibitor that prevents metabolism of dopamine both peripherally and within the CNS. It is indicated as adjunct therapy for patients who continue to deteriorate on initial therapy.

Cystic fibrosis is a progressive disease which is due to malfunction of chloride channels throughout the body. It results in excessive, thick mucous production.

Fabry disease is an X-linked disorder which involves lysosomal storage. Classic symptoms include pain and burning sensation in extremities and angiokeratomas.

Major takeaway
Marfan syndrome is a hereditary connective tissue disorder. Abnormalities in fibrillin-1production cause a variety of symptoms including above average height, arachnodactyly, and a number of cardiovascular and ocular abnormalities
Main explanation
Marfan syndrome is an uncommon hereditary connective tissue disorder. The etiology is a mutation in the FBN1 gene on chromosome 15, which codes for fibrillin-1. Associated symptoms include above average height, arachnodactyly (long, skinny fingers), scoliosis, pectus excavatum (caved-in chest), and striae. It also causes a number of cardiac and ocular abnormalities. The aorta is typically weakened and/or dilated, which increases the risk of aneurysms and aortic dissection, which is further elevated by her cystic medial necrosis of the aorta. Along with these skeletal and cardiovascular abnormalities, these patients also suffer from ocular lens dislocation. Specifically, patients with Marfan syndrome may present with ectopia lentis of the upper portion of the lens. This distinguishes it from Homocystinuria, in which the lower portion is dislocated.

Tay-Sachs disease is a disorder which involves lysosomal storage. It affects the nervous system, and is an autosomal recessive disorder.

Von-Hippel Lindau disease is an autosomal dominant disorder which is characterized by cysts and adenomas of the liver, adrenals, and pancreas.

Hepatocellular carcinoma is the most common type of liver cancer that results from a viral hepatitis infection (i.e., hepatitis B, C), or metabolic toxins (i.e., alcohol aflatoxin). Here, however, because of the urine sample, we know that the patient is suffering from a parasite infection, not a virus infection.

Major takeaway
Patients with schistosomiasis are at higher risk to develop bladder cancer carcinoma. Schistosomiasis (or bilharzia) is a helminth infection caused by Schistosoma haematobium a parasite that is found in contaminated water with infected freshwater snails.
Main explanation
Schistosomiasis (or bilharzia) is a helminth infection caused by Schistosoma haematobium a parasite that is found in contaminated water with infected freshwater snails. All Schistosomainfections follow direct contact with fresh water that harbors free-swimming larval forms of the parasite known as cercariae. The disease is especially common among children in developing countries as they are more likely to play in the contaminated water. Other high-risk groups include farmers and fishermen. Diagnosis is by finding eggs of the parasite in a person’s urine or stool. It can also be confirmed by finding antibodies against the disease in the blood.

Because the parasites migrate to the vesical plexus and veins draining the ureters after entering through the skin. Patients with schistosomiasis are at higher risk to develop bladder cancer carcinoma, the pathogenesis is not fully understood. However, recent studies suggest that the carcinogenesis arises from the alterations in the cell proliferation regulation process.

Cholangiocarcinoma arises from the Chinese liver fluke a parasite infection caused by Clonorchis sinensis. This disease is caused by the ingestion of cysts in contaminated raw fish. The parasite causes inflammation and deformation of the bile duct, causing hepatitis, anemia, and edema.

MALT lymphoma arises from a chronic infection by helicobacter pylori, a gram-negative, microaerophilic bacterium found in the stomach. Although this patient has a history of chronic gastritis, and thus, suggestive of an infection caused helicobacter pylori. Here, the patient shows Schistosoma eggs in his urine which is not suggestive of H.pylori.

Kaposi sarcoma is a tumor caused by infection with human herpesvirus 8 that is common among patients with HIV. Affected areas include the lower limbs, back, face, mouth, and genitalia. Here, however, the stem shows many different clues, Asian ethnicity, rice field worker that are suggestive of a different diagnosis.

Bicarbonate is an intermediate form in the deprotonation of carbonic acid and it helps shift potassium back into cells. Bicarbonateis used for the risk of arrhythmia and for the use of calcium gluconate to stabilize the membrane.

Dantrolene sodium is a postsynaptic muscle relaxant that lessens excitation-contraction coupling in muscle cells. It is the primary drug used for the treatment and prevention of malignant hyperthermia, neuroleptic malignant syndrome, muscle spasticity, and 2,4-dinitrophenol poisoning.

Major takeaway
Riluzole is a drug used to treat amyotrophic lateral sclerosis (ALS) and it works by decreasing presynaptic glutamate release, thereby limiting cytotoxic effects of this neurotransmitter. ALS is a disorder that involves the death of neurons that control voluntary muscles and is characterized by stiff muscles, muscle twitching, and gradually worsening weakness.

Main explanation
Amyotrophic lateral sclerosis (ALS or Lou Gehrig disease) is a disorder that involves the death of neurons that control voluntary muscles. The cause is not known in 90-95% of cases and about 5-10% of cases are inherited from a person’s parents. A defect on chromosome 21, which codes for superoxide dismutase 1 (SOD1), is associated with about 20% of familial cases of ALS, or about 2% of ALS cases overall. Diagnosis is made with clinical reference, with a nerve conduction study, and electromyography. ALS is characterized by stiff muscles, muscle twitching, and gradually worsening weakness due to muscles decreasing in size. This results in difficulty speaking, swallowing, and breathing. No cure for ALS is known but it is treated with riluzole in attempts to slow the progression of disease. Riluzole works by decreasing presynaptic glutamate release, thereby limiting cytotoxic effects of this neurotransmitter. Non-invasive ventilation results in improved quality and length of life. ALS starts around the age of 60 and in inherited cases around the age of 50. The average survival from onset to death is 3-4 years. About 10% survive longer than 10 years and most die from respiratory failure.

Salbutamol, also known as albuterol, shifts potassium back into cells and is used after the risk for arrhythmia. It is also used to treat high blood potassium levels, asthma, exercise-induced bronchospasm, and chronic obstructive pulmonary disease (COPD).

Succinylcholine is a medication used to induce muscle relaxation and short-term paralysis, usually to help with tracheal intubation. It is used in combination with pain medications and sedatives for euthanasia.

Gonadotropin-releasing hormone stimulates the synthesis and secretion of the gonadotropins follicle-stimulating hormone and luteinizing hormone (LH) at the pituitary gland. Elevated prolactin concentration decrease gonadotropin-releasing hormone activity.

Major takeaway
Symptoms of prolactinomas include secondary amenorrhea, galactorrhea, decreased libido, low gonadotropin-releasing hormone concentration, and loss of axillary and pubic hair due to the increased prolactin concentrations. Bitemporal hemianopsia and headaches occur due to the tumor’s mass effect.

Main explanation
The patient has a pituitary adenoma. Of the hormone-producing pituitary adenomas, prolactin-producing tumors (prolactinomas) are the most common. Symptoms of prolactinomas include secondary amenorrhea, galactorrhea, decreased libido, and loss of axillary and pubic hair due to the increased prolactin levels. Concentrations of gonadotropin-releasing hormone would be decreased due to inhibition by prolactin. Bitemporal hemianopsia occurs due to the tumor’s mass effect.

Galactorrhea is the flow of milk from the breast outside nursing or childbirth. The symptoms correlate with the magnitude of the hyperprolactinemia. The presence of galactorrhea per se does not require treatment unless the patient finds it bothersome, in which case dopamine agonists like cabergoline are first-line.

Pituitary prolactinomas result in an elevated prolactin concentration in the blood that decreases gonadotropin-releasing hormoneactivity, which decreases the secretion of follicle-stimulating hormone.

Moderate degrees of hyperprolactinemia cause secondary amenorrhea or oligomenorrhea. Milder hyperprolactinemia may disturb the menstrual cycle, but can still cause infertility due to insufficient progesterone secretion.

Prolactinomas can cause decreased libido and energy, and eventually loss of pubic and axillary hair. Hyperprolactinemia in men may also be associated with erectile dysfunction in men, even if the serum testosterone concentration is normal.

Auer rods are noted in acute myelocytic leukemia (AML). These eosinophilic rods are virtually diagnostic of AML, and is not associated with HIV infection.

Eosinophilia is noted in certain malignancies, Addison disease, parasitic infections, and allergic reactions. The eosinophil count should not increase with HIV infection.

The distinguishing histologic feature of Hodgkin disease is the presence of the Reed-Sternberg cells, which have a single bilobed nucleus and a large nucleolus.

Major takeaway
Pneumocystis jiroveciii pneumonia is an opportunistic fungal infection that should prompt consideration for HIV testing and other immune evaluations for lymphocytes and antibodies; reduced lymphocytes will be seen.
Main explanation
The human immunodeficiency virus selectively infects lymphocytes and leads to destruction of CD4 positive cells. Thus, patients become susceptible to frequent infections. Patients who have unexplained lymphopenia should be evaluated for HIV infection.

Categorically, patients with a CD4 count <200 cells/μL have acquired immune deficiency symdrome (AIDS). AIDS can also be diagnosed with the presence of HIV in addition to one or more AIDS defining opportunistic infections; these tend to begin after a patient’s CD4 count drops below 500 cells/μL. Pneumocystis jirovecci pneumonia is an opportunistic infection that typically occurs in patients with HIV who have a CD4 count <200 cells/μL. It is a severe fungal chest infection that causes symptoms including shortness of breath, chest pain, and fever.

Neutropenia is not typically seen in patients who have the acquired immune deficiency syndrome. It is more common in a patient taking cytotoxic medications (cancer patients), or in patients who have just undergone a bone marrow transplant.