Alterations in One-Carbon Metabolism in Celiac Disease

Celiac disease (CD) is an autoimmune enteropathy associated with alterations of metabolism. Metabolomics studies, although limited, showed changes in choline, choline-derived lipids, and methionine concentrations, which could be ascribed to alterations in one-carbon metabolism. To date, no targeted metabolomics analysis investigating differences in the plasma choline/methionine metabolome of CD subjects are reported. This work is a targeted metabolomic study that analyzes 37 metabolites of the one-carbon metabolism in 17 children with CD, treated with a gluten-free diet and 17 healthy control siblings, in order to establish the potential defects in this metabolic network. Our results demonstrate the persistence of defects in the transsulfuration pathway of CD subjects, despite dietary treatment, while choline metabolism, methionine cycle, and folate cycle seem to be reversed and preserved to healthy levels. These findings describe for the first time, a metabolic defect in one-carbon metabolism which could have profound implications in the physiopathology and treatment of CD.     

Prolapso genital en una gestante con antecedente de accidente de tráfico y lesión perineal severa

The association between genital prolapse and pregnancy is more common in the second half of pregnancy and is often corrected after childbirth. There are no data on the incidence or prevalence of uterine prolapse from the beginning of pregnancy or on those developing during the course of pregnancy or in the postpartum.     

Change in clinical management of sentinel lymph node location in early stage cervical cancer: the role of SPECT/CT

Objective

The aim of this study was to investigate the feasibility of the sentinel lymph node (SLN) identification with SPECT/CT lymphoscintigraphy imaging in the early stage invasive cervical cancer in patients undergoing radical hysterectomy and pelvic lymphadenectomy.

Methods

Between March 2007 and June 2009, a prospective consecutive study was designed for SLN mapping. Twenty-two patients with cervical cancer FIGO stage IB1 (n = 20) or stage IIA1 (n = 2) underwent SLN identification with preoperative SPECT/CT and planar images (technetium-99 m colloid albumin injection around the tumor) and posterior intraoperative detection with both blue dye and a handheld or laparoscopic gamma probe. Complete pelvic lymphadenectomy was performed in all cases by open (n = 2) or laparoscopic (n = 20) surgery.

Results

In the present series, a total of 35 SLN were detected with planar images and 40 SLN were identified and well located by SPECT/CT lymphoscintigraphy (median 2.0 nodes per patient). In 5/22 patients (22.7%) SPECT/CT procedure improves the number of localized SLN. Intraoperatively, 57 SLNs were identified, with a median of 3 SLNs per patient by gamma probe (a total of 53 hot nodes) and a median of 2 nodes per patient after blue dye injection (a total of 42 blue nodes). Microscopic nodal metastases (eight nodes, corresponding to four patients) were confirmed in 18.18% of cases; all these lymph nodes were previously detected as SLN. The remaining 450 nodes, including SLNs, following complete pelvic lymphadenectomy, were histologically negative.

Conclusions

Sentinel lymph node detection is improved by SPECT/CT imaging because of the increased number of SLN detected and the better tridimensional anatomic location, allowing easier intra-operative detection with gamma probe and showing, in this series, a 100% negative predictive value.     

Posters

Purpose  

The association between cervical cancer and uterine prolapse is rare and sparsely represented in literature, despite the high incidence of the latter. The suitable treatment in this clinical situation is not defined. The objective of this article is to review published cases about this clinical condition.     

Treatment of Ewing sarcoma family of tumors with a modified P6 protocol in children and adolescents

Background

Reported overall survival (OS) rates of patients with localized Ewing sarcoma family of tumors (ESFT) are >80% when treated with the MSKCC P6 protocol. However, it has been associated with a 5.8% incidence of secondary leukemias. A modified P6 (mP6) protocol with reduced exposure to chemotherapy is presented.

Procedure

Thirty‐one newly diagnosed ESFT patients were enrolled onto this phase II, single‐arm, non‐randomized protocol. Courses 1, 2 and 4 consisted of cyclophosphamide 4.2 g/m², doxorubicin 75 mg/m², and vincristine 2 mg/m² (CDV). Cycles 3 and 5 consisted of ifosfamide 9 g/m² and etoposide 500 mg/m² (IE). Course 5 ifosfamide was 14 g/m² if necrosis was <90%.

Results

Twenty‐four patients had loco‐regional disease and seven had metastases. The 4‐year event‐free survival (EFS) rate for patients with localized tumors is 83% and overall survival (OS) is 92%. The 3‐year EFS rate for patients with distant metastases is 28% and OS rate is 42%. EWS‐FLI1 fusion genes were detected in 17 cases (74%) and EWS‐ERG in six cases (26%). Type 1 EWS‐FLI1 variant was present in 6/7 metastatic patients and 3/16 loco‐regional cases (P = 0.001). None of the patients experienced tumor progression before remission. All relapses occurred within 2 years from the end of treatment and local relapses (n = 3) happened in patients who did not receive radiation therapy. No secondary malignancies have been observed, median follow‐up of 4.3 years for surviving patients.

Conclusions

In this pilot study, the mP6 protocol produced a complete remission rate of 83% at 4 years in non‐metastatic ESFT reducing the risk of secondary malignancies. Pediatr Blood Cancer 2011;57:69–75. © 2011 Wiley‐Liss, Inc.     

Early unexpected diagnosis of fetal life-limiting malformation; antenatal palliative care and parental decision

Introduction: Conjoined twins are an infrequent occurrence in obstetric practice. Live-conjoined twins on a late preterm triplet pregnancy is an even rarer event.

Objective: The objective of this study is to emphasize the critical importance of perinatal palliative care and non-directive parental counseling, informed decision making and respect for autonomy following full disclosure of findings, fetal life-limiting diagnosis, treatment alternatives, maternal–fetal potential complications, and most likely perinatal outcomes.

Methods: Early surprise prenatal diagnosis, comprehensive parental counseling, palliative care, and perinatal care of a set of conjoined twins and a singleton.

Results: Cesarean delivery of a set of conjoined twins and a singleton at 34 weeks’ gestation. Immediate neonatal death of the conjoined twins, intact survival, and discharge of the singleton. Review of the database on previously reported similar cases. It is very important to utilize simple and direct language for parents to understand the grave prognosis to the pregnancy. Care alternatives in view of the maternal physical risks and psychological impact of carrying a high order abnormal multiple pregnancy, along with the possible side effects on the singleton.     

Risk factors for invasive pneumococcal disease in a community with a high proportion of non vaccine serotypes

The aim of this study was to investigate factors associated with vaccination with 7-pneumococcal conjugate vaccine (PCV7) and risk factors for invasive pneumococcal disease (IPD) and for penicillin-nonsusceptible strains in a community with intermediate vaccination coverage.