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PKU

PKU
Written by Katie Luce on 2012-10-26


PKU, short for Phenylalanine Hydroxylase Deficiency, is an autosomal recessive genetic condition in which the essential amino acid, phenylalanine cannot be broken down due to deficiecny of the enzyme that breaks phenylalanine into tyrosine. This results in an intolerance to dietary intake of the amino acid.
Normally, phenylalanine is important for production of neurotransmitters in the brain, so...(Read More)

Suprasellar Pituitary Tumor

Suprasellar Pituitary Tumor
Written by Katie Luce on 2012-05-02


A 7 year old girl presented with a history of weight gain and visual changes. These symptoms began three years ago when the patient began gaining weight for no apparent reason. She was active and eating healthy, but kept growing. She was always tall for her age, but the weight was catching up with her. The patient was followed by endocrinology, who could not find a cause for her growth.
This continued...(Read More)

Neurofibromatosis

Neurofibromatosis
Written by Katie Luce on 2012-04-30


Neurofibromatosis Type 1 (NF1) is an autosomal dominant disorder effecting the protein neurofibromin on chromosome 17. This is tumor supressor gene that inhibits the p21 ras oncoprotein. Although autosomal dominant, 50% of NF1 arises as a new mutation in a patient without a family history.
The diagnostic criteria for NF1 include having at least two of the following:
1. At least 6 cafe au lait spots
2....(Read More)

Atypical Presentation Case

Atypical Presentation Case
Written by Katie Luce on 2012-04-30


A 10-year-old girl presented to a neurology clinic with the complaint of intermittent diplopia (double vision). This had been going on for the last two years, and only came on when the patient was playing soccer or had a fever. Drinking water and cooling down helped this symptom.
Her exam was normal. The patient had no cranial nerve deficits, she had no difficulty with balance or gait, full muscle...(Read More)

Conjunctivitis and Pneumonia in the Neonate

Conjunctivitis and Pneumonia in the Neonate
Written by Katie Luce on 2012-02-15


A 6 week old infant with a history of conjunctivitis presents with a staccato cough & tachypnea. Exam reveals bilateral crackles and mild reactions. The CXR shows patchy densities and hyperinflation.
The most likely diagnosis is a Chlamydia Trachomatis infection, acquired via passage through an infected birth canal. Conjunctival inflammation & mucopurulent discharge begin at about 2 weeks. They sometimes...(Read More)

Roseola Infantum

Roseola Infantum
Written by Katie Luce on 2012-02-13


An 18 month old female came into the hospital following two seizure episodes. At the time of the fever she had a very high fever, 104, but no other symptoms and the patient had no history of seizures or illness. The patient had no subsequent seizures and the fever subsided. The next day the patient began getting a rash on her face which spread to her body.
A 19 month old female came into the office...(Read More)

Microcytic Anemia

Microcytic Anemia
Written by Katie Luce on 2012-02-12


A routine blood test of a 2 year old shows a hemoglobin of 9, a MCV of 70 & a RDW of 21%. He loves milk and drinks four cups per day. What's the most likely cause of the patient's anemia?
In this case anemia is likely caused by iron deficiency. Cow's milk decreases iron absorption and children drinking more than 20 ounces of milk per day commonly become iron deficient.
The RDW is also an important...(Read More)

Common Organisms in Kids

Common Organisms in Kids
Written by Katie Luce on 2012-02-12


Organisms commonly causing cervical lymphadenopathy are Staph aureus and Strep pneumonia.
The most common causes of acute bacterial sinusitis are Strep pneumonia, H flu, Moraxella catarrhalis.
Otitis media is commonly caused by Strep pneumonia and H flu.
Bacterial meningitis more often caused by pneumococcus than meningooccus, however only the later is associated with a rash.
*It is important...(Read More)

Hemolytic Anemias

Hemolytic Anemias
Written by Katie Luce on 2012-02-12


Hemolytic anemias can be broken up into three categories. First there is immune causes. These include things like transfusion reactions, Rh incompatibility in the newborn, and autoimmune hemolytic anemia. Next, there are nonimmune causess which are either extrinsic or intrinsic. Extrinsic are not related the red cell itself and include angiopathic and infectious etiologies. Lastly, instrinsic relates...(Read More)





Yoozpaper is a social network of online newspapers written by individuals or groups. Yoozpaper takes free articles that members write and formats them as an online newspaper.

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