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See full details chevron_rightTarget Audience: Psychiatrists
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Over the past few decades, cultural competence has been defined in a variety of ways, including in the recent appearance of the closely related terms, cultural humility and cultural competemility. According to the Centers for Disease Control and Prevention, cultural competence is a “set of congruent behaviors, attitudes, and policies that come together in a system, agency, or among professionals that enables effective work in cross-cultural situations.” In the setting of healthcare, practicing cultural competence can improve the ability of HCPs to meet the social, cultural, and linguistic needs of patients, which may ultimately improve provider competence and health outcomes among diverse groups of patients with unique sociocultural identities, including race, ethnicity, gender, and sexual orientation.
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Familial chylomicronemia syndrome (FCS) is an ultrarare genetic disease characterized by the buildup of chylomicrons – the largest lipoprotein – as a result of loss of function of one of five genes responsible for lipolysis. Its estimated prevalence is one in one million people and affects patients of all ages. The clinical presentation of FCS varies but includes patients with triglyceride (TG) levels over 10 times and up to a hundred-fold times the upper limit of normal. Complications include eruptive xanthomas on the trunk and extremities, lipemia retinalis, recurrent abdominal pain, hepatosplenomegaly, fatigue, cognitive disorientation, organ failure, necrosis, and pancreatitis, the latter of which is associated with a five- to 30-percent mortality rate in patients affected by FCS. Unfortunately, due in part to the rarity of the condition, patients are commonly undiagnosed, even by endocrinologists.
Target Audience:
HCPs including: endocrinologists, cardiologists, and primary care physicians; physician assistants, nurse practitioners, and pharmacists who practice in the aforementioned areas of specialty; and those who otherwise have an interest in or commonly care for or clinically encounter patients with FCS.
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Transthyretin-mediated amyloidosis (ATTR) is a progressive, multisystem, life-threatening disorder characterized by the extracellular deposition of misfolded, insoluble amyloid fibrils. The role of the TTR protein is to transport thyroxine and retinol-binding proteins, and it is vital for cognition, nerve regeneration, and axonal growth. TTR itself is innately amyloidogenic even without the presence of genetic mutations, which may account for wild-type ATTR (wtATTR), while a hereditary form of ATTR (hATTR) may be passed to offspring through autosomal dominant inheritance. Left untreated, the average life expectancy of ATTR is 3 to 15 years from symptom onset.
Target Audience:
The following HCPs: neurologists, cardiologists, and hematologists; physician assistants, nurse practitioners, and pharmacists in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with ATTR.
Chronic obstructive pulmonary disease (COPD) is characterized by inflammation and obstruction of airflow in the lungs, resulting in difficulty breathing. It includes the conditions of emphysema and chronic bronchitis, both of which contribute to the deterioration of lung function. COPD is the fourth leading cause of death in the United States, with a prevalence of 14.2 million.
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Acute hepatic porphyria (AHP) is an umbrella term for four types of acute porphyria, the most severe of which is acute intermittent porphyria (AIP). An estimated 80% of AHP cases are AIP, which is an inherited autosomal dominant condition that results from mutations of the third enzyme of heme synthesis, porphobilinogen deaminase. In the Western countries, it is estimated that approximately 1 in 2000 individuals are carriers of the relevant mutated genotype, although the majority have latent AIP and are clinically asymptomatic. Acute attacks occur in less than 10% of the at-risk population, reflecting the role of environmental factors, such as alcohol use, infections, and hormonal changes, among others. AHP symptoms are believed to be caused by ALAS1-mediated accumulation of ALA and PBG in the liver and bloodstream, leading to neurotoxicity.
Target Audience:
The following HCPs: hematologists and gastroenterologists; physician assistants, nurse practitioners, and pharmacists who practice in any of the aforementioned areas of specialties; and any other healthcare professionals with an interest in or who clinically encounter patients with AHP.
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Hereditary angioedema (HAE) is a rare, debilitating, and potentially life-threatening disease due to C1-inhibitor (C1-INH) deficiency with an estimated prevalence of 5,000 people in the U.S. and over 116,000 worldwide. HAE is characterized by recurrent edema, and the cutaneous attacks can be disabling, with the skin, gastrointestinal tract, and upper airways are most commonly affected. Patients are also under persistent risk of laryngeal swelling that may prove fatal if not treated in a timely manner. The disease is classified as: HAE with normal functional C1INH protein (previously known as type III HAE) or HAE due to a deficiency of C1INH protein, with the latter further distinguished either by deficiency in both concentrations and function of C1INH (type I) or by normal levels of dysfunctional C1INH (type II). Owing to its rarity and symptomatic overlap with other conditions, patients not uncommonly experience a diagnostic delay of 8 to 10 years, putting them at a higher risk of inappropriate treatment, morbidity, and mortality.
Target Audience:
HCPs including: allergists, immunologists, emergency medicine specialists, and internists; physician assistants, nurse practitioners, and pharmacists specializing in immunology; and any other HCPs who have an interest in or otherwise clinically encounter patients with HAE.
Unintended pregnancies are a public health emergency and are associated with maternal morbidity and mortality due to complications of unsafe abortion, miscarriage, preeclampsia, obstetric bleeding, and socioeconomic inequality. Over 48% of all pregnancies in the US are unintended – either unwanted or occurring earlier or later than desired – and they are most prevalent in women and girls of lower socioeconomic status and those who cohabit. Unintended pregnancies also impose significant psychosocial and economic costs. Including expenses related to births, abortions, and miscarriages, they cost the US approximately $21 billion every year.
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IgA nephropathy (IgAN) is an inflammatory kidney disease with IgA deposition in the glomerular mesangium. IgAN is the most prevalent primary chronic glomerular disease worldwide. Globally, IgAN has an estimated incidence of 25 cases per one million people annually. It is more common in children and young adults than in the elderly. Among patients of all ages, the average annual prevalence of IgAN in the United States is 329 per 1 million. The epidemiology and gender distribution of IgAN vary by country and region. In North America and Europe, the prevalence is higher in men.
Target Audience:
HCPs including: nephrologists, internists, and pediatricians; physician associates, nurse practitioners, and pharmacists who practice in those areas of specialty; and those who otherwise care for or clinically encounter patients with IgAN.
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Pyruvate kinase (PK) is an enzyme that plays a major role in a metabolic pathway integral to the production of ATP, and a deficiency in the enzyme (PKD) is one of the most common enzyme-related glycolytic defects in a pathway integral to the production of ATP. It is transmitted as an autosomal recessive trait and is caused by mutations in the PKLR gene on chromosome 1, and over one hundred eighty of these mutations have been associated with PKD. While PKD affects approximately five people of European descent per 100,000 (data in other patient populations are lacking), it is one of the more frequent causes of chronic hemolysis. Anemia arising from the condition may range from mild and fully compensated to life-threatening in severity.
Target Audience:
HCPs including: hematology; nurse practitioners, physician assistants, and pharmacists who specialize in hematology; and those with an interest in or may clinically encounter patients with PKD.
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Hemophilia is a genetic disease caused by mutation of one of the genes for coagulation proteins leading to dangerous, uncontrolled bleeding. In hemophilia B, a mutation in the gene for factor IX (FIX) leads to an endogenous deficiency in the clotting factor. The incidence of hemophilia B is the same across race and ethnic groups, affecting approximately 1 out of every 30,000 male births.
Target Audience:
HCPs including but not limited to: hematologists, internists, and pediatricians; physician assistants, nurse practitioners, and pharmacists who practice in hematology, and other HCPs who practice in hemophilia treatment center; and any other clinicians with an interest in or who clinically encounter patients with hemophilia B.
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Dravet syndrome (DS) is a rare form of early-onset epilepsy syndrome affecting between 1:16,000 and 1:46,000 and is associated with pleomorphic seizure activity, cognitive decline, motor, and behavior abnormalities. Sudden unexpected death in epilepsy is the cause of death in nearly half of the deaths in patients with DS, with the mean age of death 8.7 years old and 73% of deaths occurring before age 10. Seizures typically begin in the first year of age, with most occurring between months 5 and 8, and it is usually a prolonged, tonic-clonic (accounting for 52% of first seizures) or hemiclonic (35%) seizure. Environmental triggers or events, such as fever, acute stress, and physical exercise may precipitate seizures, and at least 85% of those who are clinically diagnosed with DS have variations in the SCN1A gene. Unfortunately, diagnosis is not uncommonly delayed until a patient 3 years of age or older, prior to which antiseizure medication selection may be suboptimal or ineffective, which may lead to seizure exacerbation, an increased risk of status epilepticus, and worse cognitive outcomes.
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