Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants.

Rhabdomyolysis is diagnosed with creatinine kinase (CK) elevation beyond 1000 U/L or ten times above the normal upper limit. Severe episodes can be fatal from electrolyte imbalance, acute renal failure, and disseminated intravascular coagulation. A 13-month-old child was admitted with a CK of 82,090 U/L in the setting of respiratory tract infection-related hyperthermia of 106.

Incidence of Acute Post-Streptococcal Glomerulonephritis in Hawai'i and Factors Affecting Length of Hospitalization.

Acute post-streptococcal glomerulonephritis (APSGN) is a disorder of inflammation in the glomeruli and vasculature of the kidneys that is caused by immune-complex formation after Streptococcus pyogenes infection. Most patients with APSGN present with macroscopic hematuria, edema, and hypertension, however presentation can vary from no symptoms to severe proteinuria, or even acute renal failure. This study sought to estimate the incidence of APSGN among children in Hawai'i, to identify populations at increased risk for APSGN, and to recognize risk factors correlated with the length of hospitalization by subtype of APSGN (eg, pyoderma-associated, pharyngitis-associated).

A Case of Hemolytic Uremic Syndrome in a 10-Year-Old Male With Severe Neurologic Involvement Successfully Treated With Eculizumab.

Hemolytic uremic syndrome (HUS) can be classified as typical and atypical, and the treatment recommendations currently differ between the 2 types. Eculizumab is recommended as first-line treatment for atypical HUS; however, its use in typical HUS has been controversial. We report a case of a 10-year-old male with severe neurologic impairment who was successfully treated with eculizumab, which was started 4 days after onset of neurologic symptoms.

Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation.

Unlike most receptors, Notch serves as both the receiver and direct transducer of signaling events. Activation can be mediated by one of five membrane-bound ligands of either the Delta-like (-1, -2, -4) or Jagged/Serrate (-1, -2) families. Alternatively, dissociation of the Notch heterodimer with consequent activation can also be mediated experimentally by calcium chelators or by mutations that destabilize the Notch1 heterodimer, such as in the human disease T cell acute lymphoblastic leukemia.