Maternal diet and infant leukemia: the DNA topoisomerase II inhibitor hypothesis: a report from the children's oncology group.

BACKGROUND: The MLL 11q23 translocation arises in utero and is present in 75% of infant leukemias. That MLL+ acute myeloid leukemia (AML) can arise following chemotherapy with DNA topoisomerase II (DNAt2) inhibitors suggests that these substances, which also occur naturally in foods, may contribute toward infant leukemia. We hypothesized that maternal consumption of dietary DNAt2 inhibitors during pregnancy would increase the risk of infant leukemia, particularly AML(MLL+). METHODS: This Children's Oncology Group case-control study consisted of 240 incident cases of infant acute leukemia [AML and acute lymphoblastic leukemia (ALL)] diagnosed during 1996 to 2002 and 255 random digit dialed controls. Maternal diet during pregnancy was determined through a food frequency questionnaire. An index of specific foods identified a priori to contain DNAt2 inhibitors as well as vegetables and fruits were created and analyzed using unconditional logistic regression. RESULTS: There was little evidence of an association between the specific DNAt2 index and leukemia overall and by subtype. An exception was AML(MLL+); odds ratios (95% confidence intervals) comparing the second to fourth quartiles to the first were 1.9 (0.5-7.0), 2.1 (0.6-7.7), and 3.2 (0.9-11.9), respectively (P for trend = 0.10). For the vegetable and fruit index, there were significant or near-significant inverse linear trends for all leukemias combined, ALL(MLL+), and AML(MLL-). CONCLUSION: Overall, maternal consumption of fresh vegetables and fruits during pregnancy was associated with a decreased risk of infant leukemia, particularly MLL+. However, for AML(MLL+) cases, maternal consumption of specific DNAt2 inhibitors seemed to increase risk. Although based on small numbers, these data provide some support for distinct etiologic pathways in infant leukemia.     

Brief Report: Using Behavioral Skills Training to Teach Skateboarding Skills to a Child with Autism Spectrum Disorder

The aim of this study was to evaluate the effects of behavioral skills training (BST) on the skateboarding skills of an 11-year-old male with autism spectrum disorder (ASD). BST was used in a multiple-probe across skills design to teach five target skateboarding skills. Imitation of an additional skill was also assessed outside of BST sessions. The overall percentage of correct skateboarding skills improved following BST. Performance gains were stable in probes across settings, and additional imitations increased across the study.     

Prosthetic mitral valve thrombosis,malfunction, and paroxysmal mitral regurgitation

Intermittent dysfunction of mechanical mitral valve prosthesis is an uncommon condition. It carries serious clinical implications if unrecognized. Here, we present a case of a 28‐year‐old female with a history of rheumatic multivalvular disease, for which she had undergone double valve replacement and tricuspid annuloplasty. Six months later, she presented with heart failure. Clinical examination revealed intermittent loss of closing clicks followed by a pansystolic murmur at the apex, suggestive of mitral prosthetic valve dysfunction. We highlight the echocardiographic findings of paroxysmal mitral valvular regurgitation secondary to prosthetic valve malfunction secondary to prosthetic valve thrombosis.     

Erectile Problems in a Non-clinical Sample: Remission rates and perceived factors in remission

One hundred and nine men (38% single, 48% married) participated in a study which investigated the prevalence and remission rate of erectile difficulty. A total of 25 men reported erectile difficulty at some time. Eight reported current erectile difficulty, the remaining 17 men reported remission of previous erectile difficulty, giving a remission rate of 68% for untreated erectile problems. Those men who had remitted did not differ from those still symptomatic in terms of age, marital status, socio-economic status or duration of the complaint. When asked for perceived reasons for their remission, 53% reported that they had stopped worrying about their erection and 47% believed that more opportunity for a sexual relationship had helped. Reasons for remission tended to be ‘psychological’ rather than ‘practical’, ‘physical’ or specifically ‘sexual’. Only two subjects had sought professional help but this was not specifically sex therapy. It is concluded that remission of erectile difficulty in those not seeking help would appear to be high and may be one reason why few men complain of sexual problems to their GP.     

The use of the twin model to investigate the genetics and epigenetics of skin diseases with genomic,transcriptomic and methylation data

Twins have always fascinated medical research even before the discovery of DNA and the understanding of the differences between identical and non‐identical twins. Dermatology with the benefit of being able to visualize phenotypes was one of the first specialities reporting on the fascinating concordance in identical (MZ) twins in the 1920’s. Over the last 20 years, the heritability of skin diseases using twins has been clearly demonstrated, across a wide variety of traits including melanoma, polymorphic light eruption, psoriasis, eczema and acne. Other rarer diseases have also been shown to have a significant genetic basis such as lupus, sarcoidosis and lichen sclerosus. Following evidence of heritability for many skin disease the next step was Genome‐Wide Association Studies (GWAS) which are uncovering new genes in large twin cohorts. The twin model is also ideal for the new field of epigenetics, investigating subtle differences in DNA methylation within discordant MZ pairs for a disease, as well as differences in CNVs. Twins are also valuable for examining differences in gene function via RNA expression in twins discordant for a skin trait or disease.     

False positive retroaortic left circumflex coronary artery in a patient with atrial septal defect

Retroaortic course of coronary artery is a relative contraindication for device closure of an atrial septal defect. In this brief report, we demonstrate, for the first time, inferior aortic recess mimicking retroaortic left circumflex coronary artery in a patient with atrial septal defect. This distinction is important to avoid spurious diagnosis of anomalous coronary artery denying patient a chance of nonsurgical closure of atrial septal defect.     

Unruptured sinus of Valsalva aneurysm mimicking as right atrial tumor

Sinus of Valsalva aneurysm is a rare congenital cardiac abnormality and is usually diagnosed when it ruptures. An asymptomatic 55‐year‐old male of unruptured sinus of Valsalva aneurysm of noncoronary cusp was on medical follow‐up. At 2‐year follow‐up, there was thrombus formation in the aneurysm, mimicking right atrium tumor on 2D transthoracic echocardiography. Cardiac computed tomography showed filling defect in the aneurysm suggestive of thrombus. Considering the high risk of systemic emboli surgery was performed, and aneurysm was repaired with Dacron patch.