genital oedema

  • 文章类型: Case Reports
    The RASopathies are a group of genetic conditions resulting from mutations within the RAS/mitogen-activated protein kinase (RAS-MAPK) pathway. Lymphatic abnormalities are commonly associated with these conditions, however central conducting lymphatic abnormalities (CCLA) have only recently been described. CCLAs may be progressive and can result in devastating systemic sequelae, such as recurrent chylothoraces, chylopericardium and chylous ascites which can cause significant morbidity and even mortality. Improvements in imaging modalities of the central lymphatics have enhanced our understanding of these complex abnormalities. Management is challenging and have mainly consisted of diuretics and invasive mechanical drainages. We describe two adult males with Noonan syndrome with a severe and progressive CCLA. In one patient we report the therapeutic role of targeted molecular therapy with the MEK inhibitor \'Trametinib\', which has resulted in dramatic, and sustained, clinical improvement. The successful use of MEK inhibition highlights the importance of understanding the molecular cause of lymphatic abnormalities and utilising targeted therapies to improve quality of life and potentially life expectancy.
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  • 文章类型: Journal Article
    UNASSIGNED: Adults and children report genital oedema but prevalence is unknown. Pre-registration nurse training rarely includes genital oedema and postgraduate training opportunities are rare.
    UNASSIGNED: To identify the education needs of health professionals regarding management of genital oedema.
    UNASSIGNED: An electronic survey was cascaded to health professionals through relevant professional groups and social media.
    UNASSIGNED: Of 149 UK respondents, most manage patients with genital oedema but only 2% felt current training was sufficient. Of 138 responding regarding supplemental training, only a half had completed genital oedema specific education, usually of 1-4 hours\' duration. Confidence in knowledge was up to 22.5% higher in those with genital oedema education, even accounting for years of experience. The most common top three individual needs were compression, contemporary surgical and medical management and patient assessment. Educational resources are needed and both offline and online formats were suggested; collaborative events with urology/pelvic health are essential.
    UNASSIGNED: Health professionals working in lymphoedema care have (unmet) specific education needs regarding genital oedema management. The desire for both offline and online resources reflects the necessity of accessing learning at a distance and on an \'as needed\' basis.
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  • 文章类型: Journal Article
    Men, women or children can suffer from oedema (swelling) of the genitalia. When differential diagnosis has excluded acute trauma or pathology and swelling remains, the condition may be diagnosed as genital lymphoedema, a chronic condition that increases the relative risk of cellulitis. Diagnosis of genital oedema is often delayed due to problems with patient and health professional behaviour, in terms of embarrassment, lack of confidence or lack of knowledge. Awareness of this condition and knowledge on how to manage it will go a long way in helping both patients and clinicians overcome the challenges of addressing genital oedema. This article describes the authors\' experiences in managing genital oedema. It also briefly discusses a new international project that seeks to identify the knowledge and training that health professionals need to manage this condition more confidently.
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  • 文章类型: Case Reports
    Ovarian hyperstimulation syndrome is a rare disease among preterm infants. This syndrome was first described in 1985 in four infants with a gestational age of <30 weeks. Several explanations for this syndrome have been suggested namely the immaturity of Hypothalamic-Pituitary-Gonadal (HPG) axis, lack of negative feedback, increased sensitivity of Follicle Stimulating Hormone (FSH) receptors due to mutation and high level of estradiol. In this report, a case of hyperstimulation syndrome in a newborn with gestational age of 30 weeks is presented and the probable mechanisms in the literature are discussed.
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