Cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC) for disseminated intra-abdominal malignancies in children—a single-institution experience

Purpose

Our purpose was to present our institutional experience with performing complete cytoreduction surgery and heated intraoperative chemotherapy (CRS-HIPEC) for children with disseminated intraabdominal malignancies, guided by a leading international center performing CRS-HIPEC in children.

Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms

MTHFR gene variants C677T and A1298C seem to be related to an increased risk of migraine. Folates' metabolism could play a role in the pathophysiology of migraine. We supplemented 16 children with migraine, hyperhomocysteinemia, and MTHFR polymorphisms with folic acid and obtained a resolution/reduction of migraine attacks. Although the mechanism leading to these effects has been not made clear, we believe that the use of folic acid needs further investigations in migraineurs with hyperhomocysteinemia and MTHFR variants. A randomized, double-blind, placebo controlled crossover trial is needed to support these findings.     

Emergency contraception: an underutilized resource

This emergency contraception update and telephone triage guide can help ensure that your patients get the help they need, when they need it.     

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

Mosaicism involving a normal cell line and an unbalanced autosomal translocation are rare. In this study we present three new cases with such a mosaicism, which were detected by Single Nucleotide Polymorphism (SNP) array analysis in our routine diagnostic setting. These cases were further characterized using Fluorescence in situ Hybridisation (FISH) analysis and conventional karyotyping. The first case is a mentally retarded male who carries an unbalanced translocation in 87% of his cells. The phenotypically normal mother carries the balanced form of the translocation in all her cells. The second case is a phenotypically normal female who has an unbalanced translocation in 52% of her cells. The inheritance could not be determined. The third case is a female referred for Rubinstein-Taybi syndrome who carries an unbalanced translocation in 60% of her cells. Both parents of this case showed a normal karyotype. The mechanisms that might be responsible for these mosaic karyotypes are discussed. Furthermore, we demonstrate that high-resolution whole-genome SNP array is a powerful tool to reveal cryptic unbalanced translocations and mosaicisms, including the more rare cases.     

BeEAM (bendamustine, etoposide, cytarabine, melphalan) before autologous stem cell transplantation is safe and effective for resistant/relapsed lymphoma patients

We designed a phase 1-2 study to evaluate the safety and the efficacy of increasing doses of bendamustine (160 mg/m2, 180 mg/m2, and 200 mg/m2 given on days -7 and -6) coupled with fixed doses of etoposide, cytarabine, and melphalan (BeEAM regimen) as the conditioning regimen to autologous stem cell transplantation for resistant/relapsed lymphoma patients. Forty-three patients (median age, 47 years) with non-Hodgkin (n = 28) or Hodgkin (n = 15) lymphoma were consecutively treated. Nine patients entered the phase 1 study; no patients experienced a dose-limiting toxicity. Thirty-four additional patients were then treated in the phase 2. A median number of 6 × 10? CD34(+) cells/kg (range, 2.4-15.5) were reinfused. All patients engrafted, with a median time to absolute neutrophil count > 0.5 × 10?/L of 10 days. The 100-day transplantation-related mortality was 0%. After a median follow-up of 18 months, 35 of 43 patients (81%) are in complete remission, whereas 6 of 43 relapsed and 2 of 43 did not respond. Disease type (non-Hodgkin lymphomas vs Hodgkin disease) and disease status at transplantation (chemosensitive vs chemoresistant) significantly influenced DFS (P = .01; P = .007). Remarkably, 4 of 43 (9%) patients achieved the first complete remission after receiving the high-dose therapy with autologous stem cell transplantation. In conclusion, the new BeEAM regimen is safe and effective for heavily pretreated lymphoma patients. The study was registered at European Medicines Agency (EudraCT number 2008-002736-15).     

Dual coronary ‐ cameral fistula “double the trouble”

A patient presenting with worsening dyspnea and left‐sided chest pain underwent heart catheterization, found to have a rare connection between the right and left coronary arteries draining into the left ventricle, consistent with dual coronary‐cameral fistula.