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Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal function. Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling.
Surgeons at The Children’s Hospital of Philadelphia were the first to perform a bilateral hand transplant on a child. Our research and work in this groundbreaking field of medicine led us to establish the Hand Transplantation Program. Combining the expertise of the Penn Transplant Institute and the Hospital’s Division of Plastic and Reconstructive Surgery and Division of Orthopedics, the program aims to improve quality of life for children who may benefit from this procedure. This is Zion, one year after the surgery
Hepatitis C is an infection caused by the hepatitis C virus (HCV) that attacks the liver and leads to inflammation. The World Health Organization (WHO) estimates that about 3% of the world’s population has been infected with HCV and that there are more than 170 million chronic carriers who are at risk of developing liver cirrhosis and/or liver cancer. The image below depicts the HCV genome.
Current treatment is a combination of pegylated interferon-alpha-2a or pegylated interferon-alpha-2b (brand names Pegasys or PEG-Intron) and the antiviral drug ribavirin for a period of 24 or 48 weeks, depending on hepatitis C virus genotype. In a large multicenter randomized control study among genotype 2 or 3 infected patients (NORDymanIC),[35] patients achieving HCV RNA below 1000 IU/mL by day 7 who were treated for 12 weeks demonstrated similar cure rates as those treated for 24 weeks.[36][37]
Pegylated interferon-alpha-2a plus ribavirin may increase sustained virological response among patients with chronic hepatitis C as compared to pegylated interferon-alpha-2b plus ribavirin according to a systematic review of randomized controlled trials .[38] The relative benefit increase was 14.6%. For patients at similar risk to those in this study (41.0% had sustained virological response when not treated with pegylated interferon alpha 2a plus ribavirin), this leads to an absolute benefit increase of 6%. About 16.7 patients must be treated for one to benefit (number needed to treat = 16.7; click here [39] to adjust these results for patients at higher or lower risk of sustained virological response). However, this study's results may be biased due to uncertain temporality of association, selective dose response.
Treatment is generally recommended for patients with proven hepatitis C virus infection and persistently abnormal liver function tests.
Treatment during the acute infection phase has much higher success rates (greater than 90%) with a shorter duration of treatment; however, this must be balanced against the 15-40% chance of spontaneous clearance without treatment (see Acute Hepatitis C section above).
Those with low initial viral loads respond much better to treatment than those with higher viral loads (greater than 400,000 IU/mL). Current combination therapy is usually supervised by physicians in the fields of gastroenterology, hepatology or infectious disease.
The treatment may be physically demanding, particularly for those with a prior history of drug or alcohol abuse. It can qualify for temporary disability in some cases. A substantial proportion of patients will experience a panoply of side effects ranging from a 'flu-like' syndrome (the most common, experienced for a few days after the weekly injection of interferon) to severe adverse events including anemia, cardiovascular events and psychiatric problems such as suicide or suicidal ideation. The latter are exacerbated by the general physiological stress experienced by the patient.
• Define and use related medical terminology.
• Describe and demonstrate techniques for imaging the thyroid gland.
• Discuss functional abnormalities of the thyroid gland.
• Correlate laboratory data relevant to the thyroid and parathyroid glands.
• Describe, and recognize on images, pathologies of the thyroid gland.
• Identify the anatomy of the parathyroid glands on diagrams and sonograms.
• Describe and demonstrate techniques for imaging the parathyroid glands.
• Describe, and recognize on images, pathologies of the parathyroid glands.
• List and describe other neck masses.
• Follow relevant protocols when scanning.
• Differentiate the sonographic appearances of the female reproductive organs in relation to the menstrual cycle, the use of contraceptives and hormone replacement, and following chemotherapy.
• Explain the Patient Privacy Rule (HIPAA) and Patient Safety Act (see reference).
Bronchiectasis is an abnormal dilation of the proximal and medium-sized bronchi (>2 mm in diameter) caused by weakening or destruction of the muscular and elastic components of the bronchial walls. Affected areas may show a variety of changes, including transmural inflammation, edema, scarring, and ulceration, among other findings. Distal lung parenchyma may also be damaged secondary to persistent microbial infection and frequent postobstructive pneumonia. Bronchiectasis can be congenital but is most often acquired.[9] Congenital bronchiectasis usually affects infants and children. These cases result from developmental arrest of the bronchial tree. Acquired forms occur in adults and older children and require an infectious insult, impairment of drainage, airway obstruction, and/or a defect in host defense. The tissue is also damaged in part by the host response of neutrophilic proteases, inflammatory cytokines, nitric oxide, and oxygen radicals. This results in damage to the muscular and elastic components of the bronchial wall. Additionally, peribronchial alveolar tissue may be damaged, resulting in diffuse peribronchial fibrosis.[12] The result is abnormal bronchial dilatation with bronchial wall destruction and transmural inflammation. The most important functional finding of altered airway anatomy is severely impaired clearance of secretions from the bronchial tree. Impaired clearance of secretions causes colonization and infection with pathogenic organisms, contributing to the purulent expectoration commonly observed in patients with bronchiectasis. The result is further bronchial damage and a vicious cycle of bronchial damage, bronchial dilation, impaired clearance of secretions, recurrent infection, and more bronchial damage
mply put, relapses, also known as flare ups, or (MS) attacks are new or worsening MS symptoms. But there is a concrete definition used by healthcare providers to identify MS attacks. To be considered an MS relapse: Old symptoms of MS must have become worse or new symptoms appeared.