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Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome.

Signs and symptoms

Girl with Turner syndrome before and immediately after her operation for neck-webbing – Wikipedia Image

Points

Dx

Tx

Granulomatosis with Polyangiitis (GPA) is a rare multisystem autoimmune disease. Typically, the upper and lower respiratory tract and the kidneys are affected, but it may affect any organs.

Signs and symptoms

VASCULITIS: FEVER – MALAISE – WEIGHT LOSS – ARTHRALGIA/MYALGIA

Other: Joint, eye, skin lesions

Saddle nose deformity

Goodpasture syndrome is similar to GPA, however nasal lesions and sinusitis could not be found in Goodpasture syndrome.

Dx

The best initial test: C-ANCA (+ve) Cytoplasmic antineutrophil cytoplasmic antibody (c-ANCA)

Accurate test: Biopsy

CXR: pneumonitis, pulmonary nodules ( “coin lesions”) and infiltrations

Tx

Prednisolone

Cyclophosphamide

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Read more at:

  1. http://www.merckmanuals.com/en-ca/professional/musculoskeletal-and-connective-tissue-disorders/vasculitis/granulomatosis-with-polyangiitis-gpa
  2. https://en.wikipedia.org/wiki/Goodpasture_syndrome
  3. http://emedicine.medscape.com/article/332622-overview

Ranulas are  mucoceles that can be seen in the floor of the mouth results from an injury to the duct of salivary glands, usually the major salivary glands. Ranulas present as a swelling of connective tissue consisting of collected mucin. Ranulas may be asymptomatic.

Ranula

Treatment

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Urinary Tract Infections are caused by bacteria in children. Infants, toddlers and younger children are more vulnerable to UTI if their urinary system is having structural abnormalities.

Grading

VCUG – Voiding cystourethrogram

vesicoureteral-refluxDownload

Klinefelter syndrome also known as 47,XXY or XXY, is the set of symptoms that result from two or more

Malcolm Gin (photographer) https://commons.wikimedia.org/wiki/File:Bodymorphproj_mkg_modA001_20070325_pos03.jpg

X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland.

Findings

Dx

Tx

Men with Klinefelter syndrome are at a higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome

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A-a Gradient or Alveolar-arterial PO2 difference – measure of the difference between the alveolar concentration (A) of oxygen and the arterial (a) concentration of oxygen. The A-a Gradient can help determine the cause of hypoxia.

Causes of increased (A-a) difference:

Increase in all cases of hypoxemia, except hypoventilation and high altitude.

Reye’s syndrome is encephalopathy combined with hepatic fatty infiltration which usually begins shortly after recovery from an acute viral illness, especially influenza and varicella (chickenpox) in a child who has recently had aspirin or salicylates.