Rapidly involuting congenital haemangioma associated with transient thrombocytopenia and coagulopathy: a case series

Rapidly involuting congenital haemangioma (RICH) may present with thrombocytopenia, low fibrinogen and elevated fibrin degradation products and D-dimers. Such complications have rarely been reported. We wished to define the clinical characteristics of the thrombocytopenia and coagulopathy associated with RICH, to emphasize the transient nature of this haematological complication and to distinguish these abnormalities from true Kasabach-Merritt phenomenon (KMP). We present a case series of seven patients with large RICH who presented with thrombocytopenia and coagulopathy during the first week of life. Clinical and haematological characteristics were recorded retrospectively. Two of the patients were treated with embolization due to early signs of high-output cardiac failure; four patients received oral corticosteroids in the range of 2 mg kg(-1) daily; one patient did not receive any treatment in the neonatal period, although the tumour was excised at 6 months of age. Two patients with platelet counts lower than 10 x 10(9) L(-1) received a platelet transfusion. There were no bleeding complications and only one patient presented with petechiae. In all seven patients, platelet counts started to increase at > 2 weeks of age and the coagulopathy resolved. We conclude that RICH may present with thrombocytopenia and coagulopathy similar to mild KMP early in the neonatal period. However, in contrast to true KMP, these abnormal laboratory findings are self-limited and are usually not complicated by bleeding problems.     

Prospective study of the frequency of hepatic hemangiomas in infants with multiple cutaneous infantile hemangiomas

Multiple cutaneous infantile hemangiomas have been associated with hepatic hemangiomas. Screening of infants with five or more cutaneous infantile hemangiomas with abdominal ultrasound is often recommended. The aim of this study was to determine the frequency with which hepatic hemangiomas occur in infants with five or more cutaneous infantile hemangiomas compared to those with one to four cutaneous infantile hemangiomas and to characterize the clinical features of these hepatic hemangiomas. A multicenter prospective study of children with cutaneous infantile hemangiomas was conducted at pediatric dermatology clinics at Hemangioma Investigator Groups sites in the United States, Canada, and Spain between October 2005 and December 2008. Data were collected, and abdominal ultrasonography was performed on infants younger than 6 months old with five or more cutaneous infantile hemangiomas and those with one to four cutaneous infantile hemangiomas. Twenty-four (16%) of the 151 infants with five or more cutaneous infantile hemangiomas had hepatic hemangiomas identified on abdominal ultrasound, versus none of the infants with fewer than five (p = 0.003). Two of the 24 infants with hepatic hemangiomas received treatment specifically for their hepatic hemangiomas. Infants with five or more cutaneous infantile hemangiomas have a statistically significantly greater frequency of hepatic hemangiomas than those with fewer than 5. These findings support the recommendation of five or more cutaneous infantile hemangiomas as a threshold for screening infants younger than 6 months old for hepatic hemangiomas but also demonstrate that the large majority of these infants with hepatic hemangiomas do not require treatment.     

Consumption of gluten with gluten-degrading enzyme by celiac patients: A pilot-study

AIM:To assesses the safety and efficacy of Aspergillus niger prolyl endoprotease(AN-PEP)to mitigate the im-munogenic effects of gluten in celiac patients.METHODS:Patients with initial diagnosis of celiac disease as confirmed by positive serology with subtotal or total villous atrophy on duodenal biopsies who adhere to a strict gluten-free diet(GFD)resulting in normalised antibodies and mucosal healing classified as Marsh 0 orⅠwere included.In a randomised double-blind placebo-controlled pilot study,patients consumed toast(approximately 7 g/d gluten)with AN-PEP for 2 wk(safety phase).After a 2-wk washout period with adherence of the usual GFD,14 patients were randomised to gluten intake with either AN-PEP or placebo for 2 wk(efficacy phase).Measurements at baseline included complaints,quality-of-life,serum antibodies,immunophenotyping of T-cells and duodenal mucosa immunohistology.Furthermore,serum and quality of life questionnaires were collected during and after the safety,washout and efficacy phase.Duodenal biopsies were collected after the safety phase and after the efficacy phase.A change in histological evaluation according to the modified Marsh classification was the primary endpoint.RESULTS:In total,16 adults were enrolled in the study.No serious adverse events occurred during the trial and no patients withdrew during the trial.The mean score for the gastrointestinal subcategory of the celiac disease quality(CDQ)was relatively high throughout the study,indicating that AN-PEP was well tolerated.In the efficacy phase,the CDQ scores of patients consuming gluten with placebo or gluten with AN-PEP did not significantly deteriorate and moreover no differences between the groups were observed.During the efficacy phase,neither the placebo nor the AN-PEP group developed significant antibody titers.The IgA-EM concentrations remained negative in both groups.Two patients were excluded from entering the efficacy phase as their mucosa showed an increase oftwo Marsh steps after the safety phase,yet with undetectable s     

BRAF‐V600 mutational status affects recurrence patterns of melanoma brain metastasis

Brain metastasis is common and carries a poor prognosis in melanoma. A single institution, retrospective cohort of 225 melanoma patients was analyzed to determine if BRAF‐V600 mutational status was associated with brain metastasis. Eighty‐three of the 225 patients (37%) had BRAF‐V600 mutations. At initial diagnosis, BRAF‐V600 mutations were associated with younger age (p ≤ 0.001), higher proportion of females (p = 0.0037), higher AJCC stage (p = 0.030), regional lymph node involvement (p = 0.047), and family history of cancer (p = 0.044). Compared to BRAF‐WT, BRAF‐V600 patients had an increased risk of brain metastasis in multivariate analysis (OR = 2.24; 95% CL = 1.10–4.58; p = 0.027). However, BRAF‐V600 patients treated with a selective BRAF inhibitor (BRAFi) had a similar risk of brain metastasis compared to BRAF‐WT patients (OR = 1.00; 95% CL = 0.37–2.65; p = 0.98). Moreover, treatment with BRAFi significantly prolonged the time from initial diagnosis to brain metastasis diagnosis (HR = 0.30; 95% CL = 0.11–0.79; p = 0.015). Compared to other tissues, the brain was the most frequent site of metastasis in BRAF‐V600 patients without BRAFi (42% 7%). The frequency of brain metastasis was lower in BRAF‐WT and BRAF‐V600 patients with BRAFi (25% 4% and 25% 8%, respectively). The proportion of patients with brain metastasis as the only site was 40%, 60%, and 0% in the BRAF‐WT, BRAF‐V600 without BRAFi, and BRAF‐V600 with BRAFi groups, respectively. This study provides evidence on the clinical importance of BRAF‐V600 mutations and BRAF inhibition in the progression to melanoma brain metastasis.     

Effect of alternative photostimulable phosphor plates erasing times on subjective digital image quality

Objective

To evaluate the influence of alternative erasing times of DenOptix® (Dentsply/Gendex, Chicargo, IL) digital plates on subjective image quality and the probability of double exposure image not occurring.

Methods

Human teeth were X-rayed with phosphor plates using ten different erasing times. Two observers evaluated the images for subjective image quality (sharpness, brightness, contrast, enamel definition, dentin definition and dentin-enamel junction definition) and for the presence or absence of double exposure image. Spearman''s correlation analysis and ANOVA was performed to verify the existence of a linear association between the subjective image quality parameters and the alternative erasing times. A contingency table was constructed to evaluate the agreement among the observers, and a binominal logistic regression was performed to verify the correlation between the erasing time and the probability of double exposure image not occurring.

Results

All 6 parameters of image quality were rated high by the examiners for the erasing times between 25 s and 130 s. The same erasing time range, from 25 to 130 s, was considered a safe erasing time interval, with no probability of a double exposure image occurring.

Conclusions

The alternative erasing times from 25 s to 130 s showed high image quality and no probability of double image occurrence. Thus, it is possible to reduce the operating time of the DenOptix® digital system without jeopardizing the diagnostic task.     

The effect of aerobic exercise on treatment‐related acute toxicity in men receiving radical external beam radiotherapy for localised prostate cancer

KAPUR G., WINDSOR P.M. & Mc COWAN C. (2010) European Journal of Cancer Care 19 , 643–647 The effect of aerobic exercise on treatment‐related acute toxicity in men receiving radical external beam radiotherapy for localised prostate cancer We retrospectively analysed acute radiation toxicity data for patients who had participated in a randomised controlled study in our centre in order to assess the impact of aerobic exercise on acute rectal and bladder morbidity during treatment. Data from 65 of 66 patients were analysed: 33 allocated into a control group (standard advice) and 33 into an exercise group (aerobic walking for 30 min at least three times per week) during 4 weeks of external beam radiotherapy; one patient in the exercise group withdrew after randomisation before starting radiotherapy. There was a trend towards less severe acute rectal toxicity in the exercise group with a statistically significant difference in mean toxicity scores over the 4 weeks of radiotherapy (P = 0.004), with no significant difference in bladder toxicity scores between the two groups (P = 0.123). The lack of an association for severity of bladder toxicity could be attributed to the confounding effect of lower urinary tract symptoms from their prostate cancer. Keeping active and being asked to adhere to a well‐defined exercise schedule appears to reduce the severity of rectal toxicity during radiotherapy to the prostate.     

Mammary stem cells and cancer: roles of Wnt signaling in plain view

The likely roles of Wnt signaling in regulating mammary stem cell behavior have been much discussed, in part because they may underlie the oncogenic effects of Wnt signaling in mammary tissue. Two recent papers add important data to this field. One tests directly the effects of purified Wnt protein on mouse mammary stem cells in culture and finds a specific increase in the proportion of cells with self-renewing stem cell phenotypes. The second identifies a novel target gene of canonical Wnt signaling that may be expressed in stem cells and is induced in both mouse and human mammary tumors associated with Wnt pathway activation.     

Identification of critical regions for clinical features of distal 10q deletion syndrome

Array comparative genomic hybridization studies were performed to further characterize cytogenetic abnormalities found originally by karyotype and fluorescence in situ hybridization in five clinical cases of distal 10q deletions, including several with complex cytogenetic rearrangements and one with a partial male-to-female sex-reversal phenotype. These results have enabled us to narrow the previously proposed critical regions for the craniofacial, urogenital, and neuropsychiatric disease-related manifestations associated with distal 10q deletion syndrome. Furthermore, we propose that haploinsufficiency of the DOCK1 gene may play a crucial role in the pathogenesis of the 10q deletion syndrome. We hypothesize that alteration of DOCK1 and/or other genes involved in regulation and signaling of multiple pathways can explain the wide range of phenotypic variability between patients with similar or identical cytogenetic abnormalities.