1.
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.
Frosk, P, Chodirker, B, Simard, L, El-Matary, W, Hanlon-Dearman, A, Schwartzentruber, J, Majewski, J, , , Rockman-Greenberg, C
BMC medical genetics. 2015;:28
Abstract
BACKGROUND Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. lymphedema and lymphangiectasia), variable intellectual disability and characteristic dysmorphic features. The patient we describe here has a lymphatic dysplasia without intellectual disability or dysmorphism caused by mutation in CCBE1, highlighting the phenotypic variability that can be seen with abnormalities in this gene. CASE PRESENTATION Our patient is a 5 week old child of Pakistani descent who presented to our center with generalized edema, ascites, and hypoalbuminemia. She was diagnosed with a protein losing enteropathy secondary to segmental primary intestinal lymphangiectasia. As the generalized edema resolved, it became clear that she had mild persistent lymphedema in her hands and feet. No other abnormalities were noted on examination and development was unremarkable at 27 months of age. Given the suspected genetic etiology and the consanguinity in the family, we used a combination of SNP genotyping and exome sequencing to identify the underlying cause of her disease. We identified several large stretches of homozygosity in the patient that allowed us to sort the variants found in the patient's exome to identify p.C98W in CCBE1 as the likely pathogenic variant. CONCLUSIONS CCBE1 mutation analysis should be considered in all patients with unexplained lymphatic dysplasia even without the other features of classic Hennekam syndrome.
2.
Selenium for alleviating the side effects of chemotherapy, radiotherapy and surgery in cancer patients.
Dennert, G, Horneber, M
The Cochrane database of systematic reviews. 2006;(3):CD005037
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Abstract
BACKGROUND Selenium supplements are frequently used by cancer patients. Selenium is an essential trace element and is involved in antioxidant protection and redox-regulation in humans. Several adverse effects of radiotherapy and chemotherapy in cancer patients as well as cellular processes that maintain chronic lymphoedema have been linked to oxidative cell damage in the human body. Selenium has recently been investigated as a remedy against chemotherapy and radiotherapy-associated side effects as well as its effects on lymphoedema. OBJECTIVES This review assessed the effects of supplementary selenium on adverse effects of conventional radiotherapy, chemotherapy, or surgery, in oncologic patients and on quality of life or performance status during and after oncologic treatment. SEARCH STRATEGY We searched the Cochrane Pain, Palliative & Supportive Care Trials Register, the Cochrane Database of Systematic Reviews (The Cochrane Library , Issue 2, 2004), Medline (1966 - Sep 2004), Embase (1980 - 2004 week 12), SIGLE (October 2004), Cancerlit (October 2004), Clinical Contents in Medicine CCMed (October 2004), the German Register of Cancer Studies (October 2004), the NCI Clinical Trials Register (October 2004), the International Standard Randomised Controlled Trial Number Register ISRCTN (October 2004) and the Meta-Register of Controlled Trials mRCT (October 2004), reference lists and the archive of our working group. We contacted manufacturers of selenium supplements and investigators. SELECTION CRITERIA Randomised-controlled trials of selenium mono-supplements in cancer patients undergoing tumour specific therapy such as chemotherapy, radiotherapy or surgery. DATA COLLECTION AND ANALYSIS Two review authors independently checked trials for eligibility, extracted data and assessed trial quality. We sought additional information from investigators when required. MAIN RESULTS Two trials have been included, a randomised controlled trial with 60 participants at the beginning of the study investigating secondary lymphoedema and an ongoing trial with preliminary results of 63 participants investigating radiotherapy induced diarrhoea as a secondary outcome. Both trials had drawbacks with regard to study quality and reporting. The trial on secondary lymphoedema reported a decreased number of recurrent erysipela infections in the selenium supplementation group compared to placebo. However, results must be interpreted with caution and cannot be generalised to other populations. The ongoing trial on radiotherapy associated diarrhoea preliminarily reported a lower incidence of diarrhoea in patients receiving selenium supplementation concomitant to pelvic radiation, however, no data were presented. Publication of final results must be awaited to discuss these findings in detail. No randomised controlled trials were found studying the effect of selenium supplementation on other therapy-associated toxicities or quality of life or performance status in cancer patients. AUTHORS' CONCLUSIONS There is insufficient evidence at present that selenium supplementation alleviates the side effects of tumour specific chemotherapy or radiotherapy treatments. Or, that it improves the after effects of surgery, or improves quality of life in cancer patients or reduces secondary lymphoedema. To date research findings do not provide a basis for any recommendation in favour or against selenium supplementation in cancer patients. Potential hazards of supplementing a trace mineral should be kept in mind.