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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.
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Self-management of lymphedema: a systematic review of the literature from 2004 to 2011.
Ridner, SH, Fu, MR, Wanchai, A, Stewart, BR, Armer, JM, Cormier, JN
Nursing research. 2012;(4):291-9
Abstract
BACKGROUND Little is known about the effectiveness of activities used to self-manage lymphedema. OBJECTIVE The aim of this study was to evaluate the level of evidence of peer-reviewed lymphedema self-care literature published from January 2004 to May 2011. METHODS Eleven major medical databases were searched. Articles were selected for inclusion or exclusion into the category of self-management of lymphedema by topic experts. The definition of self-management included activities that individuals initiate and perform for themselves without the assistance of others. Articles were scored according to the Oncology Nursing Society's Putting Evidence Into Practice levels of evidence. RESULTS Sixteen articles met criteria for inclusion in this review, with self-management as the independent variable. Ten categories of self-management were established subsequently and articles were classified by levels of evidence. In these categories, no self-management studies were rated as "recommended for practice," 2 studies were rated "likely to be effective," none was rated "benefits balanced with harms," 7 were rated "effectiveness not established," and 1 was rated "effectiveness unlikely." DISCUSSION Few studies included measures of outcomes associated with lymphedema, and there was a scarcity of randomized controlled trials in lymphedema self-management. A demonstrated need exists for the design and testing of self-management interventions that include appropriate outcome measures.
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WITHDRAWN: Antibiotics / anti-inflammatories for reducing acute inflammatory episodes in lymphoedema of the limbs.
Badger, CM, Preston, NJ, Seers, K, Mortimer, PS
The Cochrane database of systematic reviews. 2009;(1):CD003143
Abstract
BACKGROUND Lymphoedema is a chronic, progressive condition and one area of debate is the optimum management for infective/inflammatory episodes (AIE's). OBJECTIVES To determine whether antibiotic/anti-inflammatory drugs given prophylactically reduce the number and severity of AIE's in patients with lymphoedema. SEARCH STRATEGY We searched the Cochrane Breast Cancer Group register in September 2003, the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 4, 2003), CINAHL, MEDLINE, PASCAL, SIGLE, UnCover, reference lists produced by The British Lymphology Society, the National Research Register (NRR) and the International Society of Lymphology congress proceedings. SELECTION CRITERIA Randomised controlled trials testing an antibiotic or anti-inflammatory drug against placebo (with or without physical therapies) were included. DATA COLLECTION AND ANALYSIS Eligibility for inclusion was confirmed by two blinded reviewers. The papers were screened independently using a checklist of criteria relating to quality. Both reviewers extracted data from the eligible studies using a data extraction form. MAIN RESULTS Four studies (364 randomised patients) were included. Two studied the effects of intensive physical treatment plus selenium or placebo in preventing AIE's, and two studied the effects of Ivermectin, Diethylcarbamazine (DEC) (anti-filarial agents) and penicillin as prophylactic treatment for adeno lymphangitis(ADL) versus placebo.Both selenium trials reported no inflammatory episodes during the trial period in the treated group but one case of infection in the two placebo groups respectively. Seven additional cases of infection in trial one and 14 cases in trial two required treatment in the three month follow up period.One anti-filarial trial reported 127 ADL episodes for all groups during the treatment year (compared with 684 episodes during the pre-treatment year). There were 228 ADL episodes during the trial follow-up year but no findings were significant. No link was found between the grade of oedema and the frequency of ADL episodes. There was a significant link between increased episodes and the rainy season. Penicillin reduced the mean number of inflammatory episodes from 4.6 to 0.5 after treatment, which increased to 1.9 at the end of follow-up. AUTHORS' CONCLUSIONS The effectiveness of selenium in preventing AIE in lymphoedema remains inconclusive in the absence of properly conducted randomised-controlled trials. Anti-filarials do not appear to reduce ADL episodes in filarial lymphoedema. Penicillin appears to contribute to a significant reduction in ADL when combined with foot-care. The importance of foot-care should be recommended, which may also apply to care of the arm following breast cancer treatment. Properly conducted trials are needed to demonstrate any efficacy of these interventions.
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Novel FOXC2 missense mutation identified in patient with lymphedema-distichiasis syndrome and review.
Dellinger, MT, Thome, K, Bernas, MJ, Erickson, RP, Witte, MH
Lymphology. 2008;(3):98-102
Abstract
Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.
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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.
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Antibiotics / anti-inflammatories for reducing acute inflammatory episodes in lymphoedema of the limbs.
Badger, C, Seers, K, Preston, N, Mortimer, P
The Cochrane database of systematic reviews. 2004;(2):CD003143
Abstract
BACKGROUND Lymphoedema is a chronic and progressive condition and current debate revolves around the best course of management for infective/inflammatory episodes. OBJECTIVES To determine whether antibiotic/anti-inflammatory drugs given prophylactically reduce the number and severity of infective/inflammatory episodes in patients with lymphoedema. SEARCH STRATEGY We searched the Cochrane Breast Cancer Group register in September 2003, the Cochrane Central Register of Controlled Trials (The Cochrane Library, Issue 4, 2003), CINAHL, MEDLINE, PASCAL, SIGLE, UnCover, reference lists produced by The British Lymphology Society, the National Research Register (NRR) and the International Society of Lymphology congress proceedings. SELECTION CRITERIA Types of studies considered for review were randomised controlled trials testing an antibiotic or anti-inflammatory drug against placebo (with or without physical therapies). DATA COLLECTION AND ANALYSIS Eligibility for inclusion was confirmed by two blinded reviewers who screened the papers independently using a checklist of criteria relating to the randomisation and blinding of a trial. Both reviewers extracted data from the eligible studies using a data extraction form. MAIN RESULTS Overall, four studies (364 randomised patients) were included. Two of these studied the effects of intensive physical treatment plus selenium or placebo in preventing AIE, and two studied the effects of Ivermectin, Diethylcarbamazine (DEC) (anti-filarial agents) and penicillin as prophylactic treatment for adeno lymphangitis(ADL) versus placebo. Both selenium trials reported no inflammatory episodes during the trial period in the treated group but one case of infection in the two placebo groups respectively during the first three weeks of each trial. Seven additional cases of infection in trial one and 14 cases in trial two required treatment in the three month follow up period. One anti filarial trial reported a total of 127 ADL episodes for all groups during the treatment year (compared with 684 episodes reported for the same participants during the pre-treatment year). Another 228 ADL episodes were reported during the trial follow-up year but no significant differences were found between the three groups. No apparent link was found between the grade of oedema and the frequency of ADL episodes. However, there was a significant link between increased episodes and the rainy season. In the penicillin group the mean number of inflammatory episodes was reduced from 4.6 to 0.5 after treatment and increased to 1.9 at the end of the follow-up year. REVIEWERS' CONCLUSIONS The effectiveness of selenium in preventing AIE in lymphoedema remains inconclusive in the absence of properly conducted randomised controlled trials. Anti-filarials (DEC and Ivermectin) do not appear to reduce ADL episodes in filarial lymphoedema. Foot care may be important in reducing ADL episodes, and penicillin appears to contribute to a significant reduction in ADL, when combined with foot-care. It seems reasonable to emphasise the importance of foot-care to patients and practitioners in preventing infection and this may also apply to care of the arm in women who develop lymphoedema following breast cancer treatment. However, properly conducted trials are needed to demonstrate any efficacy of these interventions.