Familial rare EGFR-mutant lung cancer syndrome: Review of literature and description of R776H family.

BACKGROUND: Interest in hereditary lung cancer is increasing, in particular germline mutations in the Epidermal Growth Factor Receptor (EGFR) gene. We review the current literature on this topic, discuss risk of developing lung cancer, treatment and screening options and describe a family of 3 sisters with lung cancer and their unaffected mother all with a rare EGFR germline mutation (EGFR p.R776H). METHODS: We searched PubMed, Medline, Embase, the Cochrane Library, Google Scholar and scanned reference lists of articles. Search terms included "EGFR germline" and "familial lung cancer" or "EGFR familial lung cancer". We also describe our experience of managing a family with rare germline EGFR mutant lung cancer. RESULTS: Although the numbers are small, the described cases in the literature show several similarities. The patients are younger and usually have no or light smoking history. 50% of the patients were treated with a tyrosine kinase inhibitor (TKIs) with OS over six months. CONCLUSION: Although rare, germline p.R776H EGFR lung cancer mutations are over-represented in light or never smoking female patients who often also possess an additional somatic EGFR mutation. Treatment with TKIs appears suitable but further research is needed into the appropriate screening regime for unaffected carriers or light/never smokers.

A racial bias test with tertiary cancer centre employees: why anti-racist measures are required for First Nations Australians cancer care equity.

Objective To examine implicit bias in employees at a cancer centre using an Australian race (Aboriginal-white) Implicit Association Test (IAT), in an attempt to understand a potential factor for inequitable outcomes of First Nations Australians cancer patients. Methods All employees at an Australian cancer centre were invited to take part in a web-based, cross-sectional study using an Australian race IAT. The results were analysed using Welch t-tests, linear regression and ANOVA. Results Overall, 538/2871 participants (19%) completed the IAT between January and June 2020. The mean IAT was 0.147 (s.d. 0.43, P < 0.001, 95% CI 0.11-0.18), and 60% had a preference for white over First Nations Australians. There was no significant mean difference in IAT scores between sub-groups of gender, age or clinical/non-clinical employees. 21% of employees (95% CI 17.65-24.53) had moderate to strong preference for white over First Nations Australians, compared to 7.1% with moderate to strong preference for First Nations over white Australians (95% CI 5.01-9.09). Conclusions Inequitable cancer survival for First Nations patients has been well established and cancer is now the leading cause of mortality. This paper documents the presence of racial bias in employees at one cancer centre. We argue that this cannot be understood outside the history of colonialism and its effects on First Nations Australians, healthcare workers and our society. Further research is required to evaluate measures of racism, its effect on health care, and how to eliminate it.

[Place of 3D custom-made implants after failure of modeling steno-chondro-plasties]. / Place des implants sur mesure 3D après échec des sterno-chondro-plasties modelantes.

Most common congenital malformation of the thorax, Pectus Excavatum affects about one in 500 people. Several surgical or medical techniques have been proposed. Some are followed by complications or insufficient results even though their constant functional value is highly controversial. Secondary surgery with a deep customized 3D elastomer implant, may be an elegant effective and safe solution compared to others; it allows a good aesthetic result expected by patients in the absence of any respiratory or cardio-vascular functional context.

The impact of chronic skin disease in adolescence and the need for specialist adolescent services.

Adolescence is a critical period in both physical and psychological development. Skin conditions are very common in this age group, and are known to impart a considerable psychological burden, with higher rates of both anxiety and depression in those with chronic skin disease. The Department of Health has identified the specialized needs of adolescents as they transition from paediatric to adult services as a key priority, with emphasis on providing 'developmentally appropriate healthcare'. However, in spite of this, there are very few dedicated transitional clinics in the UK with appropriate psychosocial support. We have demonstrated in our own clinical practices that a dedicated teenage and young adult dermatology clinic with embedded specialist psychological support can deliver effective dermatological care to young people with a variety of skin conditions. We call for a greater focus on achieving developmentally appropriate care for adolescents across the UK to address the unmet transitional and psychological care needs in this population.

Establishing and developing a Teenage and Young Adult dermatology clinic with embedded specialist psychological support.

Skin conditions are common in adolescence and impart considerable psychological burden. The Department of Health has identified the specialized needs of adolescents transitioning from paediatric to adult services as a priority, yet there are few dedicated transitional clinics in the UK providing appropriate psychosocial support. We have established a monthly Teenage and Young Adult (TYA) dermatology clinic dedicated to managing teenagers and young adults with skin disease alongside open-access psychological support. Demographic data and Teenagers' Quality of Life Index (T-QoL) measures were recorded for all patients in 2016. To evaluate patient experience, two online surveys were conducted. Statistically significant improvements in the T-QoL were recorded for patients with the most common skin condition (eczema) attending for repeat assessment by the psychologist. Patients reported high satisfaction rates in both patient experience surveys. These results demonstrate that specialized adolescent care both is well received and can improve outcomes for these patients.

The role of a video-assisted thoracic approach for rib fixation.

PURPOSE: Rib fixation remains a contentious issue in the current practice of orthopaedic, trauma and thoracic surgeons. Whilst rib fractures are undoubtedly associated with high levels of morbidity and mortality, the optimal surgical approach has not yet been fully elucidated in prospective trials and the volume of procedures performed remains low. METHODS: We evaluated 21 consecutive patients who underwent surgical rib fixation either via a standard thoracotomy approach or following the introduction of a video-assisted technique with minimal thoracic incisions. RESULTS: The average age of patients undergoing rib fixation was 47 and the median length of post-operative stay was 4 days. More than 70 % of patients were found to have concurrent haemothoraces, and 19 % had significant injuries to underlying intra-thoracic structures requiring repair. One patient returned to theatre for persistent blood loss; however, there were no other immediate complications or mortalities. CONCLUSIONS: We discuss the involvement of thoracic surgeons, early assessment of the thoracic cavity with video assistance and optimal peri-operative management with particular reference to cases which demonstrate recent changes in our practice.

A case of co-existing paraganglioma and thymoma.

BACKGROUND: Head and neck paragangliomas are rare tumours and can arise as a part of inherited syndromes. Their association with thymic tumour is not well known. CASE DESCRIPTION: This report describes a female patient who presented with right sided neck paragangliomas. The histology of the tumour was consistent with paraganlioma. Few years later her MRI scan of the chest revealed presence of an anterior mediastinal mass that corresponded to the location of the thymus. Review of her previous scans showed that the mass was present all along and had gradually increased in size. Patient developed symptoms including fatigue, dyspnoea, migratory polyarthritis, Raynaud's phenomenon and erythema nodosum. She had sternotomy and excision of mediastinal mass. The histology was consistent with cortical thymoma (WHO type B2) and she had radiotherapy. After treatment her constitutional symptoms improved. Her paraganglioma susceptibility genes are negative. DISCUSSION AND EVALUATION: To our knowledge this is only the second case report in the literature of coexistence of carotid body tumour and thymoma. The first case reported was bilateral carotid body tumour, thyroid gland adenoma and thymoma. This case also highlights the importance of long term surveillance, multidisciplinary management and being aware of associated pathologies in patients with isolated paraganglioma.

Suicide in patients suffering from late-life anxiety disorders; a comparison with younger patients.

BACKGROUND: Anxiety disorders are assumed to increase suicide risk, although confounding by comorbid psychiatric disorders may be one explanation. This study describes the characteristics of older patients with an anxiety disorder who died by suicide in comparison to younger patients. METHOD: A 15-year national clinical survey of all suicides in the UK (n = 25,128). Among the 4,481 older patients who died by suicide (≥ 60 years), 209 (4.7%) suffered from a primary anxiety disorder, and 533 (11.9%) from a comorbid anxiety disorder. Characteristics of older (n = 209) and younger (n = 773) patients with a primary anxiety disorder were compared by logistic regression adjusted for sex and living arrangement. RESULTS: Compared to younger patients, older patients with a primary anxiety disorder were more often males and more often lived alone. Although 60% of older patients had a history of psychiatric admissions and 50% of deliberate self-harm, a history of self-harm, violence, and substance misuse was significantly less frequent compared to younger patients, whereas physical health problems and comorbid depressive illness were more common. Older patients were prescribed significantly more psychotropic drugs and received less psychotherapy compared to younger patients. CONCLUSION: Anxiety disorders are involved in one of every six older patients who died by suicide. Characteristics among patients who died by suicide show severe psychopathology, with a more prominent role for physical decline and social isolation compared to their younger counterparts. Moreover, treatment was less optimal in the elderly, suggesting ageism. These results shed light on the phenomenon of suicide in late-life anxiety disorder and suggest areas where prevention efforts might be focused.

Psychiatric in-patient care and suicide in England, 1997 to 2008: a longitudinal study.

BACKGROUND: Psychiatric in-patients are at high risk of suicide. Recent reductions in bed numbers in many countries may have affected this risk but few studies have specifically investigated temporal trends. We aimed to explore trends in psychiatric in-patient suicide over time. METHOD: A prospective study of all patients admitted to National Health Service (NHS) in-patient psychiatric care in England (1997-2008). Suicide rates were determined using National Confidential Inquiry and Hospital Episode Statistics (HES) data. RESULTS: Over the study period there were 1942 psychiatric in-patient suicides. Between the first 2 years of the study (1997, 1998) and the last 2 years (2007, 2008) the rate of in-patient suicide fell by nearly one-third from 2.45 to 1.68 per 100,000 bed days. This fall in rate was observed for males and females, across ethnicities and diagnoses. It was most marked for patients aged 15-44 years. Rates also fell for the most common suicide methods, particularly suicide by hanging on the ward (a 59% reduction). Although the number of post-discharge suicides fell, the rate of post-discharge suicide may have increased by 19%. The number of suicide deaths in those under the care of crisis resolution/home treatment teams has increased in recent years to approximately 160 annually. CONCLUSIONS: The rate of suicide among psychiatric in-patients in England has fallen considerably. Possible explanations include falling general population rates, changes in the at-risk population or improved in-patient safety. However, a transfer of risk to the period after discharge or other clinical settings such as crisis resolution teams cannot be ruled out.

Suicide in recently discharged psychiatric patients: a case-control study.

BACKGROUND: Few controlled studies have specifically investigated aspects of mental health care in relation to suicide risk among recently discharged psychiatric patients. We aimed to identify risk factors, including variation in healthcare received, for suicide within 3 months of discharge. METHOD: We conducted a national population-based case-control study of 238 psychiatric patients dying by suicide within 3 months of hospital discharge, matched on date of discharge to 238 living controls. RESULTS: Forty-three per cent of suicides occurred within a month of discharge, 47% of whom died before their first follow-up appointment. The first week and the first day after discharge were particular high-risk periods. Risk factors for suicide included a history of self-harm, a primary diagnosis of affective disorder, recent last contact with services and expressing clinical symptoms at last contact with staff. Suicide cases were more likely to have initiated their own discharge and to have missed their last appointment with services. Patients who were detained for compulsory treatment at last admission, or who were subject to enhanced levels of aftercare, were less likely to die by suicide. CONCLUSIONS: The weeks after discharge from psychiatric care represent a critical period for suicide risk. Measures that could reduce risk include intensive and early community follow-up. Assessment of risk should include established risk factors as well as current mental state and there should be clear follow-up procedures for those who have self-discharged. Recent detention under the Mental Health Act and current use of enhanced levels of aftercare may be protective.

Horner's syndrome in a patient presenting with a spontaneous pneumothorax.

Spontaneous pneumothoraces are a common thoracic problem presenting to an Accident and Emergency (A&E) department. The symptoms and signs are well described and a chest x-ray examination is usually diagnostic. However the neurological signs, specifically a Horner's syndrome on the ipsilateral side, are not widely recognised. This case illustrates the association and emphasises that when assessing a patient with a suspected spontaneous pneumothorax, an ipsilateral Horner's syndrome supports the clinical diagnosis. Further, its presence makes a tensioning pneumothorax, or as in this case a pneumothorax with significant collapse and apical adhesions, more likely. No previous case reporting the association has had the opportunity for thorascopic assessment and demonstration of likely cause.