Proactive familial cancer risk assessment: a service development study in UK primary care.

BACKGROUND: Family history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention, and Early Detection (SPED). Family History Questionnaire Service (FHQS) is a resource-efficient patient-facing online tool to facilitate this. In the UK, cancer risk assessment is usually only offered to concerned individuals proactively self-presenting to their GP, leading to inequity in accessing SPED in the community. AIM: To improve access to community cancer genetic risk assessment and explore barriers to uptake. DESIGN & SETTING: Service development project of a digital pathway using the FHQS for cancer risk assessment across four general practices within the clinical remit of the South West Thames Centre for Genomics (SWTCG). METHOD: 3100 individuals aged 38-50 years were invited to complete the FHQS through either text message or email. A random selection of 100 non-responders were contacted to determine barriers to uptake. RESULTS: In total, n = 304/3100 (10%) registered for the FHQS. Responders were more likely to be British (63% vs 47%, P<0.001), speak English as their main language (92% vs 76%, P<0.001), and not require an interpreter (99.6% vs 94.9%, P = 0.001). Of 304 responders, 158 (52%) were automatically identified as at population-risk without full family history review. Of the remaining 146 responders, 52 (36%) required either additional screening referral (n = 23), genetics referral (n = 15), and/or advice to relatives (n = 18). Of 100 non-responders contacted, eight had incorrect contact details and 53 were contactable. Reasons for not responding included not receiving invitation details (n = 26), losing the invitation (n = 5), or forgetting (n = 4). CONCLUSION: The FHQS can be used as part of a low-resource primary care pathway to identify individuals in the community above population-risk for cancer requiring action. This study highlighted barriers to uptake requiring consideration to maximise impact and minimise inequity.

Elective Thoracic Aortic Aneurysm Surgery: A Tertiary Center Experience.

Background A thoracic aortic aneurysm (TAA) is a diseased expansion of the thoracic aorta. There is morbidity associated with a dilated aorta, as well as significant mortality. Open thoracic surgery is the fundamental management for proximal lesions, offering definitive treatment with excellent results. This study aimed to summarize preoperative data and operative outcomes of patients who underwent TAA repair at our institution. Methods Data were retrospectively collected from 234 patients that underwent elective open thoracic surgery at University Hospital Southampton for TAA disease, between 2015 and 2019. Demographics, clinical factors, surgical details, as well as outcome measures, were gathered. Results There were 166 males and 68 females, with an overall mean age of 66 years. The breakdown of operations comprised 105 aortic roots, 171 ascending aorta, 20 aortic arch, and 12 descending aorta cases. The mean follow-up was 370 days. 30-day mortality was 5.13%. Mortality was associated with female gender, aortic root surgery, and prosthetic valves. Mean aortic diameters at the time of surgery for the non-genetic aortopathy and genetic aortopathy groups were respectively 4.93cm and 4.63cm in the aortic root, 5.56cm and 4.88cm in the ascending aorta, 5.08cm and 3.87cm in the aortic arch, and 6.63cm and 5.50cm in the descending aorta. Conclusion Several factors are associated with complications and morbidity, which should be considered when discussing the risks of intervention with patients. There were no neuroprotective strategies that altered post-operative neurological function. Current practice in our unit fits in with current international guidance.

Spectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.

Aims and Rationale: The inner retina is supplied by three intraretinal capillary plexi whereas the outer retina is supplied by the choroidal circulation: NDP is essential for normal intraretinal vascularisation. Pathogenic variants in NDP (Xp11.3) may result in either a severe retinal phenotype associated with hearing loss (Norrie Disease) or a moderate retinal phenotype (Familial Exudative Vitreoretinopathy, FEVR). However, little is known about whether the nature or location of the NDP variant is predictive of severity. In this systematic review we summarise all reported NDP variants and draw conclusions about whether the nature of the NDP variant is predictive of the severity of the resulting ocular pathology and associated hearing loss and intellectual disability. Findings: 201 different variants in the NDP gene have been reported as disease-causing. The pathological phenotype that may result from a disease-causing NDP variant is quite diverse but generally comprises a consistent cluster of features (retinal hypovascularisation, exudation, persistent foetal vasculature, tractional/exudative retinal detachment, intellectual disability and hearing loss) that vary predictably with severity. Previous reviews have found no clear pattern in the nature of NDP mutations that cause either FEVR or Norrie disease, with the exception that mutations affecting cysteine residues have been associated with Norrie Disease and that visual loss amongst patients with Norrie disease tends to be more severe if the NDP mutation results in an early termination of translation as opposed to a missense related amino acid change. A key limitation of previous reviews has been variability in the case definition of Norrie disease and FEVR amongst authors. We thus reclassified patients into two groups based only on the severity of their retinal disease. Of the reported pathogenic variants that have been described in more than one patient, we found that any given variant caused an equivalent severity of retinopathy each time it was reported with very few exceptions. We therefore conclude that specific NDP mutations generally result in a consistent retinal phenotype each time they arise. Reports by different authors of the same variant causing either FEVR or Norrie disease conflict primarily due to variability in the authors' respective case definitions rather than true differences in disease severity.

Provision and Perception of Physiotherapy in the Nonoperative Management of Degenerative Cervical Myelopathy (DCM): A Cross-Sectional Questionnaire of People Living With DCM.

STUDY DESIGN: Cross-sectional survey. OBJECTIVES: Degenerative cervical myelopathy (DCM) is a common syndrome of acquired spinal cord impairment caused by canal stenosis secondary to arthritic changes of the spine. International guidelines consider physiotherapy an option for mild, stable DCM; however, few studies have been conducted on nonoperative management. The objective was to determine current usage and perceptions of nonoperative physiotherapy for DCM. METHODS: Persons with DCM were recruited to a web-based survey. Participants with complete responses that had not received surgery were included (n = 167). Variables included symptom duration, treatment history, current disability, and demographic characteristics. RESULTS: Disease and demographic characteristics were equivalent between those who did and did not receive physiotherapy. In all, 19.5% of physiotherapy recipients reported subjective benefit from physiotherapy. Those perceiving benefit had significantly higher mJOA (modified Japanese Orthopaedic Association) scores, lower neck pain scores, and shorter symptom duration. In multivariate logistic regression analysis, those with mild DCM were more likely to perceive benefit than those with severe DCM, as were those with moderate DCM (to a lesser extent). Individuals whose diagnosis was delayed 1 to 2 years were less likely to perceive benefit than those that waited 0 to 6 months. CONCLUSIONS: The provision of nonoperative physiotherapy in the management of DCM is inconsistent and appears to differ from international guidelines. Few patients perceived benefit from physiotherapy; however, this was more likely in those with mild DCM and in those with shorter symptom durations. Further work is needed to establish the appropriate role of physiotherapy for this population.

Endobronchial Valves in the Management of Persistent Air Leak in Coronavirus Disease 2019.

Pneumothorax and persistent air leak are documented complications of severe acute respiratory syndrome coronavirus 2 infection. Patients who fall into this category are often poor candidates for invasive thoracic surgical intervention. Endobronchial valves offer an effective and less invasive treatment option and can successfully treat persistent air leak and support the weaning of patients with severe acute respiratory syndrome coronavirus 2 pneumonia off ventilation.

Antibiotic-loaded Bone Cement in the Management of Neosternal Osteomyelitis.

Antibiotic-loaded bone cement is an alternative treatment option that can be used in the surgical management of osteomyelitis requiring bone resection and reconstruction. Current literature provides a focus on its use within the orthopedic patient group with scarce literature surrounding the cardiothoracic patient demographic. We hereby demonstrate the use of an antibiotic-loaded bone cement in the definitive management of neosternal osteomyelitis and nonunion, avoiding the need for further complex autografting and internal fixation.

Reducing antithrombotic-related bleeding risk in urgent and emergency cardiac surgery.

This review focuses on the role of CytoSorb® (CytoSorbents Corporation, Monmouth Junction, New Jersey, USA), a technology for purifying extracorporeal blood. The technology is designed for several indications to prevent bleeding complications during on-pump cardiac surgery, including removal of the antiplatelet agent, ticagrelor, and the oral anticoagulant, rivaroxaban, from the blood. Recent clinical studies are briefly reviewed.

Aorto-innominate artery bypass for migrated stent.

We report a case of a 64-year-old female who first presented with a transient ischemic attack in 2007 due to an innominate artery stenosis, which indicated an endovascular stent placement. In 2008, she presented with recurrence of symptoms and was diagnosed with in-stent restenosis alongside an unusual occurrence of retrograde migration into the ascending aortic arch. We performed an aorto-innominate bypass through a median sternotomy. The patient was discharged without any complications thereafter, and the graft has shown excellent patency. As of 2019, the patient remains well.

Cardiopulmonary resuscitation discussions with patients admitted to acute oncology wards: A national audit of current practice.

OBJECTIVES: To map current practice regarding discussions around resuscitation across England and Scotland in patients with cancer admitted acutely to hospital and to demonstrate the value of medical students in rapidly collecting national audit data. METHODS: Collaborators from the Macmillan medical student network collected data from 251 patient encounters across eight hospitals in England and Scotland. Data were collected to identify whether discussion regarding resuscitation was documented as having taken place during inpatient admission to acute oncology. As an audit standard, it was expected that all patients should be invited to discuss resuscitation within 24 hr of admission. RESULTS: Resuscitation discussions were had in 43.1% of admissions and of these 64.0% were within 24 hr; 27.6% of all admissions. 6.5% of patients had a "do not attempt resuscitation" order prior to admission with a difference noted between patients receiving palliative and curative treatment (8.5% and 0.39%, respectively, p < .05). Discussions regarding escalation of care took place in only 29.3% of admissions. CONCLUSIONS: These data highlight deficiencies in the number of discussions regarding resuscitation that are being conducted with cancer patients that become acutely unwell. It also demonstrates the value of medical student collaboration in rapidly collecting national audit data.

Right atrial and SVC infiltrating mass-the entity of infiltrating lipoma.

BACKGROUND: Cardiac lipomas are rare benign primary cardiac tumours primarily composed of mature adipocytes. They are usually well defined, encapsulated masses, but rarely demonstrate malignant characteristics by infiltrating the myocardium. This causes diagnostic uncertainty as it becomes a priority to rule out primary malignant cardiac tumours such as sarcoma which often carry a poor prognosis. CASE REPORT: A 61 year old female presenting with chest pain was found to have an infiltrating right atrial hypertrophic mass. Mutli-disciplinary team (MDT) discussions along with the presence of symptoms and likelihood of malignancy led to the recommendations for surgery. Intraoperatively this involved the right pulmonary veins and superior vena cava (SVC). The mass was resected with good margins and reconstruction of the right atrium, pulmonary veins and SVC was done using porcine pericardial patch. The patient made a good postoperative recovery and was discharged home in sinus rhythm with no significant valvular lesions. This was further confirmed at 6 month follow up. Final histology was that of infiltrating lipoma. CONCLUSIONS: In this rare case of infiltrating cardiac lipoma in a relatively young patient, the diagnostic uncertainty despite multimodal imaging meant surgery was indicated due to the high suspicion of cancer. Even in benign cases, fatty infiltration can lead to conduction defects and embolisation. Technical difficulties in sectioning these specimens is caused by intra-tumour variability and current recommendations are for excision biopsy, for best characterisation. The management of these patients requires an MDT with Cardiac surgery being a safe approach providing definitive management.

Framingham vascular age is associated with worse cognitive performance in the middle-aged and elderly.

"Normal" age-related cognitive decline has been associated with cardiovascular risk factors. Framingham Vascular Age is age-normed cardiovascular risk which may help communicate risk to patients and identify those at relatively higher risk. We aim to assess the association between Framingham Vascular Age and cognition. 346 "healthy" participants (57±10 years) without neuropsychiatric disorders or clinical manifestations of cardiovascular disease were studied. Cognition was evaluated using the Brief Memory and Executive Test and Framingham Vascular Age was calculated. The association between Framingham Vascular Age and cognitive performance was determined through General Linear Models to control for covariates. Framingham Vascular age was associated with poorer Memory and Executive Function/Processing Speed indices (p= 0.019 and p<0.001, respectively). We conclude Framingham Vascular Age is associated with worse Executive Function/Processing Speed and Memory. Vascular Age may help identify patients at higher risk of age-related cognitive decline with implications for communicating the morbidity associated with cardiovascular risk.

Hemangioblastomatosis-associated negative-pressure hydrocephalus managed with improvised shunt.

Low-pressure hydrocephalus (LPH) is a rare clinical diagnosis, characterized by neurologic decline and ventriculomegaly that persists despite normal to low intracranial pressure. LPH is typically managed by negative-pressure drainage via ventriculostomy, followed by low-resistance shunt insertion. We present the case of a middle-aged man with a history of hemangioblastomatosis who had spontaneous subarachnoid hemorrhage. He was treated with a ventriculoperitoneal shunt and then underwent resection of a Meckel's cave hemangioblastoma and whole brain irradiation. One month later, he presented to us with worsening symptoms and hydrocephalus despite shunt interrogations and revisions revealing no malfunction. Ventriculostomy drainage at negative-pressure was required for resolution of symptoms and ventriculomegaly, leading us to a diagnosis of LPH. This was successfully treated using an improvised ultra-low pressure valveless ventriculoperitoneal shunt, with maintained resolution of LPH for over one year. The system was created by ligating the distal slit valve end of a peritoneal catheter to prevent reflux and allow sub-zero pressure drainage by siphoning.

Is there a role for postoperative physiotherapy in degenerative cervical myelopathy? A systematic review.

OBJECTIVE: To review peer-reviewed literature relating to postoperative physiotherapy for degenerative cervical myelopathy (DCM), to determine efficacy in improving clinical outcome and recovery. DATA SOURCES: MEDLINE, EMBASE, CENTRAL, PEDro, ISRCTN registry, WHO ICTRP and Clinicaltrials.gov . References and citations of relevant articles were searched. METHODS: A systematic search was conducted in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines (PROSPERO CRD42016039511) from the origins of the databases till 15 February 2018. Included were all studies investigating physiotherapy as an intervention after surgical treatment of DCM to determine effect on clinical outcome and recovery. Study quality was determined using the Grades of Recommendation, Assessment, Development and Evaluation guidelines. RESULTS: In all, 300 records were identified through tailored systematic searches, after removing duplicates. After screening, only one investigated postoperative rehabilitation using physiotherapy for DCM; however, this was retrospective with no controls. This study suggested that rehabilitation including physiotherapy improved postoperative recovery. There are currently two registered trials investigating the use of postoperative physiotherapy for DCM. CONCLUSIONS: The literature provides insufficient evidence to make any evidence-based recommendations regarding postoperative physiotherapy use in DCM.

Polycystic pancreatic disease associated with pineal cyst in an adolescent: a case report and literature overview.

Pancreatic polycystosis is one of rare causes of recurrent abdominal pain of pancreatic origin in children frequently associated with other organ's cysts which are to be searched. Association with pineal cyst is exceptional, and link between the two locations is to be elucidated. MRI is highly valuable to characterize cysts.

Hypothyroid ataxia complicating monoclonal antibody therapy.

We present a case of cerebellar dysfunction due to severe hypothyroidism induced by pembrolizumab, a member of the 'immune checkpoint inhibitor' class of cancer immunotherapies. Thyroxine replacement completely resolved his symptoms and signs. We also discuss the neurological immune-related complications of checkpoint inhibitors.

Streptococcus pneumoniae serotype 19A meningitis in well-vaccinated immunocompetent 13-month-old child: a case of PCV13 failure.

We report a 13-month-old immune-competent male child who was diagnosed with pneumococcal serotype 19A meningitis despite having received three PCV13 injections. Clinicians are reminded that bacterial meningitis can still occur, even in correctly vaccinated children. Investigations should include immune system screening along with abdominal ultrasound to exclude asplenia.

Hypomagnesemia associated with chondrocalcinosis: a cross-sectional study.

OBJECTIVE: To determine an association between magnesium (Mg) depletion and chondrocalcinosis, which has been reported but not investigated in a cross-sectional study. METHODS: Prevalence of chondrocalcinosis was investigated in 144 individuals: 72 patients receiving home parenteral nutrition (HPN) compared with 72 age- and sex-matched controls. Presence of chondrocalcinosis was assessed by knee radiographs. Blood serum and globular Mg levels and 24-hour urinary Mg content were compared. RESULTS: Mean +/- SD age for both patients and controls was 51 +/- 17 years, and 51% in both groups were women. Mean duration of HPN was 6.4 years. Prevalence of chondrocalcinosis was markedly higher in patients receiving HPN than controls (16.6% versus 2.7%; P = 0.006, odds ratio [OR] 7.0, 95% confidence interval [95% CI] 1.45-66.1). Mean +/- SD serum and globular Mg levels were significantly lower in patients than controls (serum: 0.75 +/- 0.09 mmoles/liter versus 0.81 +/- 0.08 mmoles/liter, P = 0.0006; globular Mg: 1.8 +/- 0.31 mmoles/liter versus 2.0 +/- 0.35 mmoles/liter, P = 0.0003). Twenty-four-hour urinary Mg level was lower in patients than controls (mean +/- SD 3.85 +/- 1.50 mmoles versus 5.37 +/- 3.71 mmoles; P = 0.001). Prevalence of chondrocalcinosis was significantly higher in patients with a low serum Mg level (OR 13.5, 95% CI 2.76-127.3, P < 0.0001), with a similarly high but not significant occurrence of chondrocalcinosis in patients with a low globular Mg level (OR 4.09, 95% CI 0.603-20.26, P = 0.08) and in patients with a low 24-hour urinary Mg level (OR 3.9, 95% CI 0.77-16.34, P = 0.05). CONCLUSION: Long-lasting Mg depletion is strongly associated with chondrocalcinosis.