79 research outputs found
Counseling Deaf and Hard-of-Hearing Clients
No full textThis chapter focuses on developing a clinical practice with Deaf and Hard-of-Hearing individuals. Providing therapeutic services to this specialized population requires knowledge and training in many areas. While the linguistic implications are most obvious, clinicians must also take into account assistive technology, legal and ethical issues, and cultural identity, to name only a few. The author, a psychologist who has trained and practiced extensively with these individuals, describes her practice with this population, including training for, building, and marketing this niche. Developing a practice that understands and meets the needs of deaf and hard-of-hearing individuals can be challenging and rewarding. The chapter also provides a list of resources.</p
Prolonged response to radiolabeled Yttrium90 DOTATATE in a patient with metastatic insulinoma - 5 years follow up
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Hyperprolactinaemia, Cushing's syndrome and Adrenal Insufficiency - diagnostic and management challenges with multiple co-morbidities and polypharmacy
No full textPancreatic surgery and tertiary pancreatitis services warrant provision for support from a specialist diabetes team
No full textPancreatic surgery units undertake several complex operations, albeit with considerable morbidity and mortality, as is the case for the management of complicated acute pancreatitis or chronic pancreatitis. The centralisation of pancreatic surgery services, with the development of designated large-volume centres, has contributed to significantly improved outcomes. In this editorial, we discuss the complex associations between diabetes mellitus (DM) and pancreatic/periampullary disease in the context of pancreatic surgery and overall management of complex pancreatitis, highlighting the consequential needs and the indispensable role of specialist diabetes teams in support of tertiary pancreatic services. Type 3c pancreatogenic DM, refers to DM developing in the setting of exocrine pancreatic disease, and its identification and management can be challenging, while the glycaemic control of such patients may affect their course of treatment and outcome. Adequate preoperative diabetes assessment is warranted to aid identification of patients who are likely to need commencement or escalation of glucose lowering therapy in the postoperative period. The incidence of new onset diabetes after pancreatic resection is widely variable in the literature, and depends on the type and extent of pancreatic resection, as is the case with pancreatic parenchymal loss in the context of severe pancreatitis. Early involvement of a specialist diabetes team is essential to ensure a holistic management. In the current era, large volume pancreatic surgery services commonly abide by the principles of enhanced recovery after surgery, with inclusion of provisions for optimisation of the perioperative glycaemic control, to improve outcomes. While various guidelines are available to aid perioperative management of DM, auditing and quality improvement platforms have highlighted deficiencies in the perioperative management of diabetic patients and areas of required improvement. The need for perioperative support of diabetic patients by specialist diabetes teams is uniformly underlined, a fact that becomes clearly more prominent at all different stages in the setting of pancreatic surgery and the management of complex pancreatitis. Therefore, pancreatic surgery and tertiary pancreatitis services must be designed with a provision for support from specialist diabetes teams. With the ongoing accumulation of evidence, it would be reasonable to consider the design of specific guidelines for the glycaemic management of these patients
Detectable testosterone despite androgen deprivation therapy in prostate cancer: hunting for the source
No full textTo screen or not to screen: complexity of SDHA mutation management
No full textPathogenic germline variants in the genes encoding the various subunits of the succinate dehydrogenase (SDH) enzyme complex are strongly associated with hereditary phaeochromocytomas and paragangliomas (PPGLs). Germline pathogenic variants (PGVs) in the SDHA gene are also found in individuals with wild-type gastrointestinal stromal tumours (GISTs) and paragangliomas. However, the penetrance of SDHA variants is relatively low. Only a minority of carriers will develop tumours as a result of the genetic condition. As a result, careful clinical interpretation is therefore required to avoid unnecessary over-investigation or undue concern. Current national guidelines recommend that SDHA variants should only be considered actionable (that is, to lead to surveillance in the proband and family screening) if they are identified in individuals with a personal or family history of an SDHA-related tumour. Nevertheless, SDHA variants are increasingly detected as a result of whole genome sequencing or multigene panel testing. This emphasises the importance of clinical context when deciding on surveillance or family testing. We describe three carriers of germline SDHA variants. The first case is a 72-year-old male with a history of prostate cancer and GIST, where genetic testing revealed germline variants in BRCA2 and SDHA. Tumour-derived DNA from his GIST demonstrated a somatic PDGFRA driver mutation, and SDH staining was preserved, indicating a sporadic PDGFRA-driven GIST rather than a classical SDHA-deficient tumour. While truncating SDHA variants such as this one have been reported in SDH-deficient GIST, the current UK practice considers them low penetrance and typically not actionable in the absence of SDH-deficient pathology. Accordingly, cascade testing of the SDHA variant was not recommended in his family, and no surveillance for SDH-associated tumours was initiated, although we recognise that some international guidelines may take a more precautionary approach. The second case features a 59-year-old female with wild-type GIST and a family history of brain tumours and breast cancer. Testing of tumour-derived DNA identified an SDHA variant, later confirmed of germline origin. Surveillance for other SDH-associated tumours for the proband and cascade testing for her relatives were recommended. The third case involves a man in his sixties with prostate cancer, found to carry an incidental SDHA variant after undergoing broad cancer predisposition panel testing. He had no personal/family history of SDH-associated tumours, and his prostate cancer showed strong SDHA expression, indicating that the variant was non-actionable, and no surveillance for SDH-associated tumours or familial cascade testing was recommended. These cases underscore the importance of interpreting SDHA variants carefully, as the identification of germline SDHA variants does not always indicate the need for aggressive surveillance or intervention
Development of endocrinopathy following treatment of metastatic melanoma with an immune checkpoint inhibitor is associated with better response
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