Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase (SDHx) genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the SDH enzyme. When a pathogenic SDHx mutation is identified in an affected patient, genetic counselling is proposed for first-degree relatives. Optimal initial evaluation and follow-up of people who are asymptomatic but might carry SDHx mutations have not yet been agreed. Thus, we established an international consensus algorithm of clinical, biochemical and imaging screening at diagnosis and during surveillance for both adults and children. An international panel of 29 experts from 12 countries was assembled, and the Delphi method was used to reach a consensus on 41 statements. This Consensus Statement covers a range of topics, including age of first genetic testing, appropriate biochemical and imaging tests for initial tumour screening and follow-up, screening for rare SDHx-related tumours and management of elderly people who have an SDHx mutation. This Consensus Statement focuses on the management of asymptomatic SDHx mutation carriers and provides clinicians with much-needed guidance. The standardization of practice will enable prospective studies in the near future.
Serum steroid paneling by LC-MS/MS is useful for diagnosing ACC by combining the measurement of steroid hormones and their precursors in a single analysis.
INTRODUCTIONA total of 17 cases of penetrating neck injury were managed by the otolaryngology team at King’s College Hospital over a 3-year period in the 1980s. In April 2010 King’s College Hospital became the major trauma centre for South East London. This prospective cohort study compares the incidence, changing demographic features and treatment outcomes of penetrating neck trauma in South East London over the previous 23 years.METHODSData were collected over a 12-month period (April 2010 to March 2011) and a selective management protocol was introduced to standardise initial investigations and further treatment.RESULTSThe past 23 years have seen a 550% increase in the incidence of penetrating neck injuries in South East London, with a marked increase in gun crime. Only 38% of cases underwent negative neck exploration in 2011 compared with 65% in 1987. Selective conservative management based on the absence of haemodynamic instability or radiological findings reduces length of hospital stay, lightens surgical workload and cuts costs without affecting morbidity or mortality.CONCLUSIONSThe increased incidence of penetrating neck injury is a reflection of more interpersonal violence rather than a consequence of the larger South East London trauma centre catchment area. Tackling this problem requires focus on wider issues of community prevention. Sharing of data between the four London trauma centres and the police is needed to help prevent interpersonal violence and develop a universal treatment algorithm for other institutions to follow.
Clinical research on penetrating injury to the buttock is sparse and largely limited to case reports and clinical series. The purpose of this paper is to provide a detailed overview of literature of the topic and to propose a basic algorithm for management of penetrating gluteal injuries (PGI). MEDLINE, EMBASE, Cochran, and CINAHL databases were employed. Thirty-seven papers were selected and retrieved for overview from 1,021 records. PGI accounts for 2-3 % of all penetrating injuries, with a mortality rate up to 4 %. Most haemodynamically stable patients will benefit from traditional wound care and selective non-operative management. When gluteal fascia injury is confirmed or suspected, a contrast-enhanced CT-scan provides the most accurate injury diagnosis. CT-scan-based angiography and endovascular interventions radically supplement assessment and management of patients with penetrating injury to the major buttock and adjacent extra-buttock arteries. Immediate life-saving damage-control surgery is indicated for patients with hypovolemic shock and signs of internal bleeding. A universal basic management algorithm is proposed. This overview shows that penetrating injury to the buttock should be regarded as a potential life-threatening injury, and therefore, patients with such injuries should be managed in trauma centres equipped with hybrid operating theatres for emergency endovascular and open surgery for multidisciplinary teams operating 24/7.
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