Integrated care model for patients with functional somatic symptom disorder - a co-produced stakeholder exploration with recommendations for best practice.

BACKGROUND: Functional somatic symptoms (FFS) and bodily distress disorders are highly prevalent across all medical settings. Services for these patients are dispersed across the health care system with minimal conceptual and operational integration, and patients do not currently access therapeutic offers in significant numbers due to a mismatch between their and professionals' understanding of the nature of the symptoms. New service models are urgently needed to address patients' needs and to align with advances in aetiological evidence and diagnostic classification systems to overcome the body-mind dichotomy. METHOD: A panel of clinical experts from different clinical services involved in providing aspects of health care for patients with functional symptoms reviewed the current care provision. This review and the results from a focus group exploration of patients with lived experience of functional symptoms were explored by the multidisciplinary expert group, and the conclusions are summarised as recommendations for best practice. RESULTS: The mapping exercise and multidisciplinary expert consultation revealed five themes for service improvement and pathway development: time/access, communication, barrier-free care, choice and governance. Service users identified four meta-themes for best practice recommendations: focus on healthcare professional communication and listening skills as well as professional attributes and knowledge base to help patients being both believed and understood in order to accept their condition; systemic and care pathway issues such as stronger emphasis on primary care as the first point of contact for patients, resources to reduce the length of the patient journey from initial assessment to diagnosis and treatment. CONCLUSION: We propose a novel, integrated care pathway for patients with 'functional somatic disorder', which delivers care according to and working with patients' explanatory beliefs. The therapeutic model should operate based upon an understanding of the embodied nature of patient's complaints and provide flexible access points to the care pathway.

PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.

Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.

Factitious Hypoglycaemia: A Case Report and Literature Review.

BACKGROUND: Factitious hypoglycaemia is a form of factitious disorder imposed on self with high morbidity and mortality. It is therefore important to be aware of the key demographic and contextual risk factors for factitious hypoglycaemia, as well the investigations and management options available for suspected cases. SUBJECTS AND METHODS: In this article we describe a case report and literature review of factitious hypoglycaemia. The search was conducted using the PubMed database and identified 23 case reports of 31 patients aged 18 or over with insulin-induced factitious hypoglycaemia. RESULTS: The average age of these patients was 33.7 (±13.5) years, the female: male ratio was 4.3:1, 38% had medical occupations or past medical training, 53% had diabetes mellitus, and 41% had a positive psychiatric history. Misdiagnoses were common and often resulted in inappropriate treatment. Very few cases discussed psychiatric management. CONCLUSIONS: Factitious hypoglycaemia is more commonly reported in middle-aged females, in a medical profession, with a past medical history of diabetes mellitus and psychiatric illness. However, it may affect a variety of patients and the absence of these features should not discourage a diagnosis. C-peptide levels and insulin assays can help identify factitious hypoglycaemia over other causes of hypoglycaemia, and management should include a greater focus on psychiatric treatment.

Successful long-term hematological and immunological reconstitution by autologous cord blood transplantation combined with post-transplant immunosuppression in two children with severe aplastic anemia.

aUCBT is a valuable curative option in pediatric patients with refractory idiopathic SAA and no available matched sibling or unrelated donors. Experience in the use of autologous cord blood units in patients with SAA is limited and private for-profit cord blood-banking programs are controversial. We report the successful treatment of two patients with SAA, aged 15 and 24 months, with autologous cord blood combined with immunosuppression. After conditioning with 200 mg/kg cyclophosphamide and ATG, 7.5 mg/kg, 32.2 × 107 /kg, and 3.8 × 107 /kg autologous cord blood nucleated cells were infused, respectively. One of our patients underwent transplantation after failure of IST. Both patients received post-transplant immunosuppression with cyclosporine for 12 months. They remain disease-free 6 years post-transplantation.

Audit on the Quality of Handovers of a Psychiatric Liaison Team in the UK: a Short Report.

BACKGROUND: The importance of handovers has been recognised and proven in clinical practice. In liaison psychiatry, this is particularly important due to the high turnover of patients seen, the shift work pattern and the number of member staff engaging in this process. An Audit on the Quality of Handovers was carried out within a Psychiatric Liaison team of a General hospital in UK with an intention to review and improve this. METHOD: Handovers were evaluated against the gold standard of the SBAR tool (Situation/Background/Assessment/Recommendations) over a period of 4 weeks. Handovers were assessed by 2 members of staff (a Consultant & a Specialty doctor). Data was analysed using Microsoft Excel. RESULTS: Results showed that the team's handover practice is mostly "Good" but there was also an amount of "Poor" under "Situation & Background", mostly presented by mid-grade doctors & trainees. Nurses scored higher than medics on overall rating, nearly 50%.This could be attributed to the fact that handovers form an essential & integral part of Nurse's training & culture. Also mid-grade (staff grade) doctors have had a significant amount of "excellent" scoring that other groups didn't have, mostly on the Assessment & Recommendations domains, which can be attributed to the fact that importance is stressed more on the assessment & treatment module by the doctors. CONCLUSION: The multi-disciplinary composition of the liaison psychiatry team has a positive impact on the patient care. This audit has revealed overall good communication amongst the members of the team, nevertheless one that needs some improvement, particularly amongst the doctors. Doctors tend to focus on the remedial (assessment & treatment) module rather than the holistic approach. SBAR remains an effective & handy tool to improve the handover quality. A re-audit will be carried out in 6 months time to assess the improvements observed following the implementation of this new tool.

Study protocol for an adaptive, multi-arm, multi-stage (MAMS) randomised controlled trial of brief remotely delivered psychosocial interventions for people with serious mental health problems who have experienced a recent suicidal crisis: Remote Approaches to Psychosocial Intervention Delivery (RAPID).

BACKGROUND: People with serious mental health problems (SMHP) are more likely to be admitted to psychiatric hospital following contact with crisis services. Admissions can have significant personal costs, be traumatic and are the most expensive form of mental health care. There is an urgent need for treatments to reduce suicidal thoughts and behaviours and reduce avoidable psychiatric admissions. METHODS: A multi-stage, multi-arm (MAMS) randomised controlled trial (RCT) with four arms conducted over two stages to determine the clinical and cost effectiveness of three psychosocial treatments, compared to treatment as usual (TAU), for people with SMHP who have had recent suicidal crisis. Primary outcome is any psychiatric hospital admissions over a 6-month period. We will assess the impact on suicidal thoughts and behaviour, hope, recovery, anxiety and depression. The remote treatments delivered over 3 months are structured peer support (PREVAIL); a safety planning approach (SAFETEL) delivered by assistant psychologists; and a CBT-based suicide prevention app accessed via a smartphone (BrighterSide). Recruitment is at five UK sites. Stage 1 includes an internal pilot with a priori progression criteria. In stage 1, the randomisation ratio was 1:1:1:2 in favour of TAU. This has been amended to 2:2:3 in favour of TAU following an unplanned change to remove the BrighterSide arm following the release of efficacy data from an independent RCT. Randomisation is via an independent remote web-based randomisation system using randomly permuted blocks, stratified by site. An interim analysis will be performed using data from the first 385 participants from PREVAIL, SAFETEL and TAU with outcome data at 6 months. If one arm is dropped for lack of benefit in stage 2, the allocation ratio of future participants will be 1:1. The expected total sample size is 1064 participants (1118 inclusive of BrighterSide participants). DISCUSSION: There is a need for evidence-based interventions to reduce psychiatric admissions, via reduction of suicidality. Our focus on remote delivery of established brief psychosocial interventions, utilisation of different modalities of delivery that can provide sustainable and scalable solutions, which are also suitable for a pandemic or national crisis context, will significantly advance treatment options. TRIAL REGISTRATION: ISRCTN33079589. Registered on June 20, 2022.

Clinical outcome of pediatric medulloblastoma patients with Li-Fraumeni syndrome.

BACKGROUND: The prognosis for Li-Fraumeni syndrome (LFS) patients with medulloblastoma (MB) is poor. Comprehensive clinical data for this patient group is lacking, challenging the development of novel therapeutic strategies. Here, we present clinical and molecular data on a retrospective cohort of pediatric LFS MB patients. METHODS: In this multinational, multicenter retrospective cohort study, LFS patients under 21 years with MB and class 5 or class 4 constitutional TP53 variants were included. TP53 mutation status, methylation subgroup, treatment, progression free- (PFS) and overall survival (OS), recurrence patterns, and incidence of subsequent neoplasms were evaluated. RESULTS: The study evaluated 47 LFS individuals diagnosed with MB, mainly classified as DNA methylation subgroup "SHH_3" (86%). The majority (74%) of constitutional TP53 variants represented missense variants. The 2- and 5-year (y-) PFS were 36% and 20%, and 2- and 5y-OS were 53% and 23%, respectively. Patients who received postoperative radiotherapy (RT) (2y-PFS: 44%, 2y-OS: 60%) or chemotherapy before RT (2y-PFS: 32%, 2y-OS: 48%) had significantly better clinical outcome then patients who were not treated with RT (2y-PFS: 0%, 2y-OS: 25%). Patients treated according to protocols including high-intensity chemotherapy and patients who received only maintenance-type chemotherapy showed similar outcomes (2y-PFS: 42% and 35%, 2y-OS: 68% and 53%, respectively). CONCLUSIONS: LFS MB patients have a dismal prognosis. In the presented cohort use of RT significantly increased survival rates, whereas chemotherapy intensity did not influence their clinical outcome. Prospective collection of clinical data and development of novel treatments are required to improve the outcome of LFS MB patients.

Fish evaluation of additional cytogenetic aberrations and hyperdiploidy in childhood Burkitt lymphoma.

Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Diploid status deviations were investigated with chromosome enumeration probes. MYC rearrangement was demonstrated in all cases. Additional aberrations included +1q (21/72:29.2%), +7q (14/72:19.4%), 13q- (14/72:19.4%), 9p-(6/72:8.3%) and hyperdiploidy (6/72:8.3%). Advanced clinical stage IV, +7q and 9p- were associated with shorter overall survival, with stage IV and +7q retaining prognostic significance on multivariate analysis. No relapse or death was reported among the hyperdiploid cases. This i-FISH investigation provides information on the genetic profile of BL and may prove valuable for patients with no karyotype analysis. Demonstration of hyperdiploidy could evolve research on clonal evolution pathways and probably identify a subgroup of children with favorable prognosis.

ROHHAD syndrome - A still unrecognized cause of childhood obesity: report of three cases.

Objectives Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare, potentially fatal, pediatric syndrome. Case presentations We describe three cases of ROHHAD-syndrome in Greece. The main and earliest symptom was the excessive and rapid weight gain at 5, 2, and 3 years of age. Years after the onset of obesity, the patients developed hypothalamic dysfunction with various endocrinological abnormalities (at 9, 8, and 6.8 years, respectively), autonomic dysregulation and finally, alveolar hypoventilation (at 14.6, 8, and 7.8 years, respectively), leading to the diagnosis of ROHHAD-syndrome. Conclusions The rarity of the syndrome, the variable symptoms' presentation, and the lack of specific diagnostic tests could explain why no previous cases have been reported from our country. The rapid onset of obesity was underestimated, and the patients were misdiagnosed with other more common obesity syndromes. Therefore, we propose a questionnaire to help physicians identify patients with ROHHAD-syndrome.

Intraparenchymal Pericatheter Cyst after Cerebrospinal Fluid Shunt: A Rare Complication with Challenging Diagnosis - Case Presentation and Review of the Literature.

An intraparenchymal pericatheter cyst is a rare complication of ventriculoperitoneal shunt, which is not well described yet. Due to its rarity, lack of characteristic symptoms and radiological features that often mimic brain tumors or abscesses, especially in head computed tomography without contrast can be easily misdiagnosed. We report the case of a 9-year-old girl who was admitted to a peripheral hospital due to severe headaches and vomiting. The child had a history of craniotomy and ventriculoperitoneal shunt for posterior fossa tumor, performed in our department, 4 years earlier. The patient underwent a brain magnetic resonance imaging (MRI) scan and transmitted to our hospital with the diagnosis of brain tumor. However, a closer look at the MRI established the diagnosis of intraparenchymal pericatheter cerebrospinal fluid cyst; hence, the patient underwent shunt revision and cyst drainage. We researched the literature and described 20 reported cases, discussing the pathophysiological mechanisms, the radiological features, and the optimal treatment of this interesting, yet a challenging complication.

Reducing non-attendance rates in a community mental health team.

The project aimed to improve productivity of psychiatric out patient clinic using quality improvement techniques through "Listening Into Action", a national programme designed to engage and support front-line clinicians to make improvements to patient care. We identified reasons as to why our patients missed appointments and then introduced a system to reduce "did not attend" (DNA) rates. Non-attendance at appointments results in a waste of resources and increases waiting times. It has been reported that DNA rates in mental health are higher compared to other settings. Therefore, reducing DNA rates are a priority for mental health care providers. We collected DNA rates over a period of months over May 2013 to September 2013. We conducted a patient survey to inquire why the patients missed their appointments. The aim of the project and results from the survey were presented and discussed at the multi-disciplinary team meeting to generate ideas for improvement and engage the team with the project. As the most frequent response from the survey was 'forgetting the appointment', we decided to introduce text messaging as an intervention to remind patients of their appointments. We also ensured that staff updated the mobile phone records for the patients at each appointment. We monitored the DNA rates after introducing this change on a monthly basis. Following our intervention, there was an overall reduction in DNA rates for all disciplines from 11.4% to 10.62% with the greatest change for medical DNA's from 17.7% to 11.8 %. Results from a patient survey showed that the reasons for non-attendance are multi-factorial and require a complex approach. Our intervention was a simple one but still it demonstrated some effectiveness. Reducing DNA rates requires interventions to be regularly monitored so that their effect is sustained over a period of time.

A comparison between the Airtraq and Macintosh laryngoscopes for routine airway management by experienced anesthesiologists: a randomized clinical trial.

BACKGROUND: The Airtraq Optical Laryngoscope is a new type of laryngoscope that provides a direct view of the glottis without alignment of the mouth, pharynx and trachea. Data show that it has advantages over the Macintosh laryngoscope. OBJECTIVE: The aim of this study was to compare the use of the Airtraq laryngo-scope versus the No. 3 Macintosh blade for routine airway management in terms of intubation time, complications during and after laryngoscopy, and ease of use. METHODS: In this single-center, randomized, clinical trial, 63 patients scheduled for elective operation were randomly allocated to two groups. Thirty-five patients were intubated with the Airtraq laryngoscope and 28 with the traditional Macintosh laryngoscope. All intubations were performed by experienced anesthesiologists who had a similar level of experience with the Airtraq laryngoscope. The time needed for intubation, any assistance required, complications during and after laryngoscopy and intubation, and the number of unsuccessful intubation attempts were documented and compared between the groups. RESULTS: Intubation with the Macintosh laryngoscope was quicker (mean+/-standard deviation: 23.7+/-5.9 seconds) than with the Airtraq laryngoscope (29.6+/-8.5 seconds). Although the difference (5.9 seconds) was statistically significant (p<0.05), it was not clinically significant. The anesthesiologists who used the Airtraq laryngo-scope less frequently required assistance (p<0.05) to place the endotracheal tube. No differences were found regarding complications during and after laryngoscopy and intubation. There were no differences in any of the outcomes in patients with Mallampati class > 2. CONCLUSION: The Airtraq laryngoscope is easier to use but it does not have any significant advantages compared with the Macintosh laryngoscope for routine airway management. More studies are needed to evaluate its use in patients with a difficult airway, and in emergency procedures.