Ca Lâm Sàng 3

Chest radiographs are useful in the evaluation of cardiac and lung pathologies. Obstructive and restrictive patterns can easily be detected on chest radiographs. A chest radiograph would be useful for further management for this patient but are not used for diagnosis of cystic fibrosis.

Pulmonary function testing is useful in evaluating patients with lung pathology. Spirometry is a common pulmonary function testwhich measures the forced expiratory value in 1 second and forced vital capacity. These values are useful in distinguishing between obstructive and restrictive pathologies.

Cyanotic heart defects could be detected with echocardiography such as ventral septal defects and tetrology of fallot. Generally, patients with cystic fibrosis do not have congenital or valvular lesions which would need workup with an echocardiogram.

Major takeaway
The diagnostic test of choice for cystic fibrosis is the sweat chloride test. These patients are often detected by newborn genetic screens but may occur later in life with increased pulmonary infections, clubbing of the digits, and egophony.

Main explanation
The patient in this clinical vignette is classic for cystic fibrosis. Cystic fibrosis is caused by a mutation in the chloride channels leading to viscous and thick secretions which plug the pulmonary bronchioles and pancreatic ducts. Findings which support the diagnosis of cystic fibrosis include recurrent pulmonary infection, digital clubbing, malabsorption, and meconium ileus. Early detection and treatment of cystic fibrosis has become almost universal since the standard newborn genetic screen includes cystic fibrosis. Children who are born at home may not always receive the newborn screening test. The diagnostic test of choice for cystic fibrosis is the sweat chloride test.

A complete blood count with peripheral smear would help detect anemias or other blood cell disorders such as sickle cell diseaseand leukemias. Digital clubbing in this patient is most likely due to cystic fibrosis.

Central hypoventilation syndrome is a disorder that results in respiratory arrest during sleep. It is often associated to neuroblastomas, Hirschsprung disease, and dysphagia.

A myxedema coma is a life-threatening state of extreme hypothyroidism. Symptoms include low body temperature without shivering, confusion, slow heart rate, and reduced breathing effort.

Kyphoscoliosis is an abnormal curvature of the spine in both a coronal and sagittal plane that is often associated with severe chest wall disorders. It can cause under-ventilation of the lungs, pulmonary hypertension, and difficulty in performing day-to-day activities. This would most likely have been diagnosed during childhood.

Major takeaway
Obesity hypoventilation syndrome is a condition that affects severely overweight people causing failure to breathe rapidly enough or deeply enough. This results in low blood oxygen levels and high blood carbon dioxide levels.
Main explanation
Obesity hypoventilation syndrome is a condition that affects severely overweight people causing failure to breathe rapidly enough or deeply enough. This results in low blood oxygen levels and high blood carbon dioxide levels. Many patients with this condition will frequently stop breathing for short period of time during sleep, resulting to multiple partial awakenings during the night.

This disease can put strain on the heart leading to heart failure, leg swelling, and other related symptoms. Weight loss is the most effective treatment, but use of nocturnal ventilation with positive airway pressure may relieve symptoms.

Obesity hypoventilation syndrome is defined by the combination of obesity (BMI >30 kg/m2), hypoxemia during sleep, and hypercapnia during the day

While many patients who suffer from obesity hypoventilation syndrome have concurrent obstructive sleep apnea, this is not the cause of her high arterial carbon dioxide levels.

Fibroblast growth factor receptor 3 (FGFR3) is a member of the fibroblast growth factor receptor family and is involved in bone development and maintenance. A mutation in FGFR3 is the primary cause of achondroplasia, a common cause of dwarfismassociated with shortening of the proximal limbs.

Test for serum calcium and parathyroid hormone levels

Major takeaway
Growth hormone deficiency is diagnosed using a combination of growth charting, serum screening, and growth hormone stimulation testing. It is then treated by administering recombinant growth hormone injections several times per week until the child’s adult height potential is reached.
Main explanation
This patient likely has growth hormone deficiency (GHD), a condition in which the anterior pituitary fails to produce enough growth hormone. Growth hormone, which is also called somatropin, is a polypeptide hormone that stimulates growth and cell reproduction. In children, growth hormone deficiency most often results in linear growth failure, while in adults, it can also lead to diminished body mass, poor bone density, and a number of other physical and psychological symptoms.

Since growth hormone levels are nearly undetectable for most of the day, growth hormone deficiency is often diagnosed by measuring IGF-1, somatomedin C, and IGF-BP3 levels in the serum. Confirmatory diagnosis is made by growth hormone stimulation testing, which may include arginine, levadopa, epinephrine, glucagon, or insulin. In growth hormone deficiency, patients tend to have heights that “fall off the curve,” though they often have normal or elevated weight for their age. Unless otherwise indicated, growth hormone deficiency is treated by administering recombinant growth hormoneinjections several times per week until the child’s adult height potential is reached.

Computed tomography (CT) of the head uses a series of X-rays to visualize the brain and cranial region. It is typically used for quickly viewing brain injuries and would not be the next best step in the management of this patient.

Karyotype analyses look at the number and appearance of chromosomes in the nucleus of a cell and are used to identify chromosomal aberrations including monosomies, trisomies, and deletions. Although short stature is common in some genetic disorders such as Turner syndrome, this patient’s symptoms do not indicate a chromosomal abnormality.

Histrionic personality disorder is characterized by a pattern of excessive attention-seeking emotions, usually beginning in early adulthood, including inappropriately seductive behavior and an excessive need for approval. It is four times more prevalent among women and it has a prevalence of 2–3% in the general population.

Avoidant personality disorder is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, and hypersensitivity to negative evaluation. Individuals who meet the criteria for avoidant personality disorder are often described as being extremely shy, inhibited in new situations, and fearful of disapproval and social rejection.

Major takeaway
Tourette syndrome (TS) and attention deficit hyperactivity disorder (ADHD) are associated in as many as 65% of cases and more than half of TS patients have significant obsessive-compulsive symptoms, 30% of them meeting the diagnostic criteria for obsessive-compulsive disorder (OCD).
Main explanation
This patient has Tourette syndrome (TS), which presents with multiple motor and vocal ticsthat last for at least one year – the tics can occur many times a day (usually in bouts) nearly every day, or off and on – with onset before 18 years of age, that are not due to taking medicine or other drugs or brought on by another medical condition.

TS is often associated with other disorders. In clinic populations, approximately 65% of children with TS meet the diagnostic criteria for attention deficit with hyperactivity disorder (ADHD). In addition, over half also have significant obsessive-compulsive symptoms, and approximately 30% meet the diagnostic criteria for obsessive-compulsive disorder (OCD). Whether these co-occurring conditions reflect ascertainment bias is not completely clear. More recently, however, community-based surveys have found that ADHD and disruptive behavior do occur with higher than expected frequency in children with TS.

Credit: Centers for Disease Control (CDC)

Borderline personality disorder (BPD) is characterized by marked instability in functioning, affect, mood, and interpersonal relationships. BPD is associated with significant morbidity due to common comorbid conditions, including dysthymia, major depression, psychoactive substance abuse, and psychotic disorders. However, BPD is not commonly associated with Tourette syndrome.

Narcissistic personality disorder (NPD) is a cluster B personality disorder defined as comprising a pervasive pattern of grandiosity(in fantasy or behavior), a constant need for admiration, a sense of entitlement, and a lack of empathy, beginning by early adulthood. NPD may be associated with histrionic, borderline, antisocial, and paranoid personality disorders.

Major takeaway
Achalasia is indicated to be either hereditary or an autoimmune disease with the MHC of chromosome 6. Achalasia can also be associated with nerve damage to the esophagus. The lower esophageal sphincter pressure and relaxation is regulated by excitatory and inhibitory neurotransmitters.
Main explanation
Achalasia is characterized by the failure of the lower esophageal sphincter muscle to be able to relax after trying to swallow liquids or solids. With a incomplete relaxation to the lower esophageal sphincter muscle, this causes food to backup within the esophagus. The esophagus is a tube that carries food from the throat down to the stomach. The esophageal manometry will also indicate a loss of peristalsis to the esophagus. A key sign is the presence of a “Bird’s beak” to the barium swallow found on the X-ray. Those who are middle-aged or older have an increased risk of developing achalasia

Barrett esophagus is classically seen in middle aged white men with a history of gastroesophagel reflux disease (GERD).

Esophageal stricture will generally present with dysphagia, heartburn, weight loss, and chest pain. The dysphagia will present most commonly with just solids but may progress to liquids.

Esophageal web is usually asymptomatic. If symptoms are present they will include dysphagia which is greater with solids rather than liquids.

Hiatal hernia is usually asymptomatic or will experience reflux that may worsen. The barium swallow will also reveal an outpouching at the lower end of the esophagus.

Major takeaway
Bartholin cysts are glands that have become enlarged due to a blockage. They are not related to sexually transmitted diseases and are easily treated. If the cyst becomes infected, it can become painful and inflamed. An infected cyst can be treated with antibiotics.

Main explanation
The Bartholin glands are located on each side of the vaginal opening, secreting fluid to help lubricate the vagina. Occasionally the glands can become obstructed, causing a fluid back up. This results in a Bartholin cyst. These cysts are often painless, but can become infected, resulting in an abscess. An abscess can be very painful and inflamed. Treatment depends on the size of the cyst and if the cyst is infected. Treatment may include surgical drainage or antibiotics if infection is present. Bartholin cysts are likely to persist, and abscesses may recur. In women over the age of 40, a biopsy is recommended to ensure cancer is not present.

Genital warts are usually multiple, small, skin-colored bumps. They are contagious and caused by the genital human papillomavirus. This virus is the most common sexually transmitted infection and is linked to cervical cancer in women.

Gonorrhea is a sexually transmitted disease that is often asymptomatic. Some symptoms include vaginal discharge, lower abdominal pain, or pain with intercourse.

Genital herpes is a sexually transmitted disease that is caused by the herpes simplex type 1 and herpes simplex type 2 viruses. A herpes outbreak appears as painful blisters and can be frequent. This virus is highly contagious and special precaution should be taken during pregnancy.

Syphilis is caused by the bacteria Treponema pallidum and can cause serious long-term health problems if left untreated. The initial symptom is the appearance of one or more sores. These sores are usually small painless ulcers on the genitals or mouth around three weeks after exposure.

Burkitt lymphoma is a B-cell lymphoma caused by a t(8;14) translocation involving the c-myc gene and immunoglobulin heavy-chain locus. In the sporadic form, it may present as a mass in the abdomen or pelvis that doubles in size each day.

Gallbladder adenocarcinoma most commonly presents in the elderly population and is often asymptomatic until it has progressed to a clinically unfavorable stage. It often results from unrelenting irritation of the gallbladder mucosa from gallstones.

Major takeaway
Hepatoblastoma is a primitive tumor that is the most common primary liver tumor in young children, occurring most often before the age of 5. They occur much more often in children who suffer from Beckwith-Wiedemann syndrome and familial adenomatous polyposis, and screening may be regularly carried out in these conditions.
Main explanation
Hepatoblastoma is a primitive tumor that is the most common primary liver tumor in young children, occurring most often before the age of 5. Typically, the rest of the child’s liver is perfectly functional. These tumors are thought to arise from pluripotent stem cells, and thus have the ability to form many types of tissues within the mass. Hepatoblastomas occur much more often in children who suffer from Beckwith-Wiedemann syndrome and familial adenomatous polyposis (FAP), and thus screening for this malignancy may be regularly carried out in these conditions. Alpha-fetoprotein levels are usually elevated in children with this tumor. This can be remembered by the fact that alpha-fetoprotein is thought to be the fetal version of albumin, and thus is produced in large quantities by the fetal liver. If the tumor is completely resectable, removal with adjuvant chemotherapy results in 100% survival. However, as some of the tumors invade into other tissues, some forms of hepatoblastomahave a poorer prognosis.

Pyloric stenosis typically presents in an infant several days or weeks after birth who begins to projectile vomit milk after feedings due to gastric outlet obstruction. If palpated on exam, it is often described as an olive-like mass.

Wilms tumor is the most common renal malignancy in young children and often presents with a palpable unilateral flank mass. Like hepatoblastoma, it may also occur in children with Beckwith-Wiedeman syndrome.

IV antibiotics are not indicated inmost cases of URTI, except for severe bacterial pneumonia. Given the non-productive cough this is an unlikely diagnosis.

This patients has no signs to suggest pneumonia (pleuritic chest pain, a cough productive of sputum, focal crackles on lung auscultation) and therefore a chest X-ray is not indicated at this point.

You have no reason to suspect this URTI is bacterial in origin (e.g. a prolonged and worsening course, or increased risk by the Centor Score) and antibiotics are not indicated at this point, as it is likely a self-limited virus.

Major takeaway
Upper respiratory tract infections can be diagnosed solely on the basis of history and exam findings and do not require further work-up or treatment. For cases which are less clear, the modified Centor score can be used to triage patients to a combination of further testing and/or empiric antibiotic treatment.
Main explanation
Diagnosing a viral upper respiratory tract infections (URTIs) can be based solely on history and exam. No imaging is needed. Antibiotics are also not indicated. Symptomatic treatment, rest, and fluids are the only treatments for URTIs of viral origin.

Some signs that might make one suspect a URTI is bacterial in origin include duration of symptoms greater than 7-14 days, focal findings on lung exam, productive cough or lack of cough, and a persistent febrile illness. However none of these signs alone is accurate in differentiating bacterial from viral illness.

The modified Centor score can also be used to help differentiate cases of URTI which require further work-up (nasopharyngeal swab) and/or antibiotics. The risk factors used by the modified Centor score include age, tonsilar exudates, tender/swollen anterior cervical lymph nodes, fever, and cough. A score of 1 requires no further testing (5-10% risk of Strep pharyngitis). A score of 2-3 indicates rapid testing and culture is appropriate, and antibiotics should be used for positive tests/cultures only. A score greater than 4 indicates that antibiotics should be used empirically, as the risk of Strep pharyngitis is greater than 50%.

While a viral panel will help identify the pathogen, it would not rule out a bacterial infection and would not change the management of this patient. It is therefore not indicated.

Co-testing using the combination of pap cytology plus HPV DNA testing is the preferred cervical cancer screening method for women 30-65 years old. Any low-risk woman between 30-65 years old who receives negative test results on both pap cytology screening and human papillomavirus (HPV) DNA testing should be rescreened in 5 years.

The Centers for Disease Control (CDC) recommends that women at any age with a history of human papillomavirus (HPV) vaccination should be screened according to the age-specific recommendations for the general population.

The most important risk factors for cervical cancer are environmental (ex: human papillomavirus (HPV) infection, smoking, multiple sex partners, etc), and not familial. Family history of cervical cancer does not impact the recommended frequency or type of screening.

Major takeaway
Cervical cytology screening (pap smear) for cervical cancer is recommended every 3 years for women aged 21-29, and cervical cytology plus HPV co-testing every 5 years in women aged 30-65 by the American College of Obstetricians and Gynecologists.
Main explanation
The American College of Obstetricians and Gynecologists (ACOG) recommends cervical cytology screening every 3 years for women 21-29 years old. The preferred screening regimen for women 30-65 years old is cervical cytology screening plus human papillomavirusco-testing every 5 years. Women should follow these screening recommendations regardless of human papillomavirus vaccination status because available human papillomavirus vaccinesdo not cover every strain of the virus. Family history of cervical cancer does not change screening recommendations, although personal history does.

The etiology and risk factors involved with cervical carcinogenesis are amenable to study as invasive cervical cancer typically arises after many years from a morphologically defined precancerous lesion. However, since untreated high-grade lesions can progress to invasive cancer, most women with cervical intraepithelial neoplasia (CIN) 2 or 3 are treated promptly. Accordingly, there are few reports on the natural history of high-grade dysplasia. On the other hand, not all CIN lesions progress to invasive cancer. In fact, spontaneous regression of moderate dysplasia has been reported in up to 54% of women.

Recent and lifetime numbers of sexual partners are both strongly associated with incident human papillomavirus (HPV) detection. However, more frequent screening for women with multiple partners is currently not recommended.

Substitution of sertraline with another drug in the SSRI class, such as fluoxetine or paroxetine, is unlikely to change the symptoms of sexual dysfunction in this patient.

Major takeaway
Bupropion is a NDRI and works by blocking norepinephrine and dopamine reuptake at the synapse: It is generally used in depression and seasonal depression. Side effects are: CNS: dizziness, headache, tremor,insomnia CVS: dysrhythmia, hypertension GI: dry mouth, N/V, constipation, decreased appetite Other: agitation, anxiety, anaphylactoid reaction.
Main explanation
Antidepressant-induced sexual dysfunction is a common condition and can be a major obstacle to long-term therapy for major depression. The most common antidepressant medications associated with sexual dysfunction include selective serotonin reuptake inhibitors (SSRIs), tricyclic antidepressants, and monoamine oxidase inhibitors (MAOIs).

Bupropion, an uptake inhibitor of norepinephrine and dopamine, is an appropriate alternative to the major classes of antidepressants because it has a low-to-zero risk for sexual dysfunction. Mirtazapine and nefazodone are also appropriate alternative antidepressants indicated for this purpose

Substitution of sertraline with a drug in the tricyclic antidepressant family, such as amitriptyline is unlikely to alleviate the symptoms due to a similarly high risk for sexual side effects.

Sildenafil is used for erectile dysfunction and may help reverse sexual dysfunction from antidepressant use in both men and women. However, it does not heighten sexual interest, the major complaint in his patient. Additionally, substitution with this drug neglects the patient’s ongoing need for antidepressant therapy.

Substitution of sertraline with another drug in the SSRI class, such as fluoxetine or paroxetine, is unlikely to change the symptoms of sexual dysfunction in this patient.