A Phase 3 Trial of l-Glutamine in Sickle Cell Disease.

BACKGROUND: Oxidative stress contributes to the complex pathophysiology of sickle cell disease. Oral therapy with pharmaceutical-grade l-glutamine (USAN, glutamine) has been shown to increase the proportion of the reduced form of nicotinamide adenine dinucleotides in sickle cell erythrocytes, which probably reduces oxidative stress and could result in fewer episodes of sickle cell-related pain. METHODS: In a multicenter, randomized, placebo-controlled, double-blind, phase 3 trial, we tested the efficacy of pharmaceutical-grade l-glutamine (0.3 g per kilogram of body weight per dose) administered twice daily by mouth, as compared with placebo, in reducing the incidence of pain crises among patients with sickle cell anemia or sickle ß0-thalassemia and a history of two or more pain crises during the previous year. Patients who were receiving hydroxyurea at a dose that had been stable for at least 3 months before screening continued that therapy through the 48-week treatment period. RESULTS: A total of 230 patients (age range, 5 to 58 years; 53.9% female) were randomly assigned, in a 2:1 ratio, to receive l-glutamine (152 patients) or placebo (78 patients). The patients in the l-glutamine group had significantly fewer pain crises than those in the placebo group (P=0.005), with a median of 3.0 in the l-glutamine group and 4.0 in the placebo group. Fewer hospitalizations occurred in the l-glutamine group than in the placebo group (P=0.005), with a median of 2.0 in the l-glutamine group and 3.0 in the placebo group. Two thirds of the patients in both trial groups received concomitant hydroxyurea. Low-grade nausea, noncardiac chest pain, fatigue, and musculoskeletal pain occurred more frequently in the l-glutamine group than in the placebo group. CONCLUSIONS: Among children and adults with sickle cell anemia, the median number of pain crises over 48 weeks was lower among those who received oral therapy with l-glutamine, administered alone or with hydroxyurea, than among those who received placebo, with or without hydroxyurea. (Funded by Emmaus Medical; ClinicalTrials.gov number, NCT01179217 .).

Splenic rupture in a newborn with severe hemophilia--case report and review.

SUMMARY: Life-threatening splenic rupture is rare in neonates with severe hemophilia. There are only 3 cases of splenic rupture in neonates with hemophilia reported in the literature. We present the case of an infant, born to a hemophilia A carrier mother. The infant was asymptomatic until discharge at 48 hours of age, but presented on the third day of life with shock, abdominal distension, and severe anemia. Computed tomography of the abdomen confirmed the diagnosis of splenic rupture with hemoperitoneum. The infant recovered after extensive supportive care surgery and factor replacement.

Sclerosing Epithelioid Fibrosarcoma of the Parietal Bone and Adjacent Meninges in an Adolescent: A Case Report.

Sclerosing epithelioid fibrosarcoma (SEF) is a rare and aggressive tumor for which no standardized treatment regimens are available. The occurrence of this tumor in children and adolescents has been rarely reported, especially in the head and neck region. Involvement of the neuraxis is reported only in a few patients. We report a case of a 13-year-old boy with SEF of the skull with intracranial extension. The tumor recurred after initial resection and rapidly spread to the brain parenchyma and the meninges with no response to surgery, chemotherapy and radiation therapy.