Management of Lateral Condyle Humeral Fracture Associated With Elbow Dislocation in Children. A Retrospective International Multicenter Cohort Study.

Objectives: Lateral humeral condyle fractures account for 12% to 17% of all distal humerus fractures in children, and usually occur as an isolated injury or are associated with radial neck and/or proximal ulna fractures. The presentation with a concomitant dislocation of the elbow is rare. Therefore, literature on young patients with this uncommon combination is sparse and mostly limited to case reports and small case series.

Fractures of the lateral condyle of the humerus associated with elbow dislocation in children. A systematic review of the literature.

Background: Lateral humeral condyle fractures are the second most common fracture around the elbow in children. However, the association of an elbow dislocation is a rare entity. Therefore, literature on young patients with this uncommon combination is sparse.

Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.

Objectives: Phenylalanine (Phe) hydroxylase (PAH) deficiency leads to hyperphenylalaninemia (HPA) and tyrosine (Tyr) depletion. We investigated Tyr homeostasis in patients with PAH deficiency and the effect of a slow-release amino acids therapy in phenylketonuria (PKU).

Methods: We performed four complementary investigations: (1) Tyr concentrations were monitored in 114 patients (10.

Desmoid-type fibromatosis in children. Clinical features, treatment response, and long-term follow-up.

Desmoid-type fibromatosis (DF) is a tumor with high local recurrence rate. Sixteen patients (18 desmoid tumors) were retrospectively evaluated. Initial surgery was performed in 13/18 tumors, with complete resection in 6 (one with free margin and five with microscopic residual disease); 10/13 had local relapse.

Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects.

DNAJC12 deficiency is a new cause of inherited hyperphenylalaninemia (HPA), besides phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiencies. Differently from other inherited HPAs, no quantitative data on peripheral phenylalanine (Phe) and tyrosine (Tyr) metabolism are currently available in DNAJC12 deficiency. Phe and Tyr metabolism in a patient with DNAJC12 after a simple Phe oral loading test (100 mg/kg) and a combined Phe (100 mg/kg) + BH4 (20 mg/kg) loading test is presented and compared to patients with disorders of BH4 metabolism, PAH deficiency, and healthy controls.