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Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder occurring at a young age that predisposes individuals to multiple forms of cancer and to a heterogeneous spectrum of malignancies. We describe the clinical history of a patient who had 5 primary malignant cancers and a familiar history consistent with LFS. We analyzed the genomic DNA of the proband and her relatives by next-generation sequencing (NGS) technology using an enrichment protocol for the simultaneous sequencing of 94 genes involved in hereditary cancers. Genetic analysis of the proband revealed a TP53 germline mutation in exon 5 determining a nucleotide alteration at codon 175 (R175H), a hot spot mutation site related to LFS and a reported pathogenic mutation. The proband daughter's and brother's DNA did not carry the TP53 mutation but they had some rare variants in common with the proband, in addition to other variants with a still unclear role. In conclusion, we identified a TP53 mutation in a patient with multiple primary tumors and a family history characterized by a severe susceptibility to cancer. The genetic analysis by targeted NGS led to the identification of the genetic background and to the exclusion of a cancer risk for the family members. Targeted NGS represents an efficient approach for the identification of mutations in families with a heterogeneous phenotype.

AimThe aim of this study was to assess the prevalence of delirium in advanced cancer patients admitted to different palliative care services in Italy and possible related factors. The secondary outcome was to assess the changes of delirium after 1 week of palliative care.MethodsA consecutive sample of patients was screened for delirium in period of 1 year in seven palliative care services. General data, including primary tumor, age, gender, concomitant disease, palliative prognostic score (PaP), and Karnofsky status, were collected. Possible causes or factors associated with delirium were looked for. The Edmonton Symptom Assessment Scale was used to assess physical and psychological symptoms and the Memorial Delirium Assessment Scale (MDAS) to assess the cognitive status of patients, at admission (T0) and 1 week after palliative care (T7).ResultsOf 848 patients screened, 263 patients were evaluated. Sixty-six patients had only the initial evaluation. The mean Karnofsky status was 34.1 (SD = 6.69); the mean PaP score at admission was 6.9 (SD = 3.97). The mean duration of palliative care assistance, equivalent to survival, was 38.4 days (SD = 48, range 2–220). The mean MDAS values at admission and after 1 week of palliative care were 6.9 (SD = 6.71) and 8.8 (SD = 8.26), respectively. One hundred ten patients (41.8%) and 167 patients (67.3%) had MDAS values ≥ 7 at admission and after 1 week of palliative care, respectively. Age, dehydration, cachexia, chemotherapy in the last three months, and intensity of drowsiness and dyspnea were independently associated with a MDAS > 7. A worsening of drowsiness, the use of opioids, and the use of corticosteroids were independently associated with changes of MDAS from T0 to T7.ConclusionAlthough the prevalence of delirium seems to be similar to that reported in other acute settings, delirium tended to worsen or poorly responded to a palliative care treatment. Some clinical factors were independently associated with delirium. This information is relevant for decision-making when delirium does not change despite a traditional intervention. Continuous assessment of delirium should be performed in these settings to detect deterioration of cognitive function. Further studies should elucidate whether an earlier approach to palliative care would decrease the prevalence of delirium at a late stage of disease.

PurposeEarly palliative care (EPC) has shown a positive impact on quality of life (QoL), quality of care, and healthcare costs. We evaluated such effects in patients with advanced gastric cancer.MethodsIn this prospective, multicenter study, 186 advanced gastric cancer patients were randomized 1:1 to receive standard cancer care (SCC) plus on-demand EPC (standard arm) or SCC plus systematic EPC (interventional arm). Primary outcome was a change in QoL between randomization (T0) and T1 (12 weeks after T0) in the Trial Outcome Index (TOI) scores evaluated through the Functional Assessment of Cancer Therapy-Gastric questionnaire. Secondary outcomes were patient mood, overall survival, and family satisfaction with healthcare and care aggressiveness.ResultsThe mean change in TOI scores from T0 to T1 was − 1.30 (standard deviation (SD) 20.01) for standard arm patients and 1.65 (SD 22.38) for the interventional group, with a difference of 2.95 (95% CI − 4.43 to 10.32) (p = 0.430). The change in mean Gastric Cancer Subscale values for the standard arm was 0.91 (SD 14.14) and 3.19 (SD 15.25) for the interventional group, with a difference of 2.29 (95% CI − 2.80 to 7.38) (p = 0.375). Forty-three percent of patients in the standard arm received EPC.ConclusionsOur results indicated a slight, albeit not significant, benefit from EPC. Findings on EPC studies may be underestimated in the event of suboptimally managed issues: type of intervention, shared decision-making process between oncologists and PC physicians, risk of standard arm contamination, study duration, timeliness of assessment of primary outcomes, timeliness of cohort inception, and recruitment of patients with a significant symptom burden.Clinical trial registrationClinicalTrials.gov (NCT01996540).

The aim of this study is to investigate the relationship between delirium and symptom expression in advanced cancer patients admitted to palliative care services. This is a secondary analysis of a consecutive sample of advanced cancer patients who were admitted to home care and hospices, and prospectively assessed for a period of 10 months. The Edmonton Symptom Assessment Scale (ESAS) and the MDAS (Memorial Delirium Assessment Scale) were measured at admission (T0) and after seven days of home care or hospice care (T7). Of the eight hundred and forty-eight patients screened in the period, 585 were not considered in the analysis for various reasons. The mean age was 72.1 years (SD 13.7), and 146 patients were males (55.5%). The mean Karnofsky status recorded at T0 is 34.1 (SD = 6.69). The mean duration palliative care assistance is 38.4 days (SD = 48, range 2–220). Of 263 patients who had a MDAS available at T0, 110 patients (41.8%) had a diagnosis of delirium. Of them, 167 patients had complete data regarding MDAS measurement, either at T0 and T7. A larger number of patients (n 167, 63.5%) had delirium after a week of palliative care. Patients with delirium are likely to be older, to have a lower Karnofsky level at T0, and to be home care patients. At T0, weakness, nausea, drowsiness, lack of appetite, and well-being are associated with delirium. At T7, weakness, poor appetite, and poor well-being are significantly associated with delirium. 27% of patients who had a normal cognitive status at T0 developed delirium at T7. In patients with delirium, an improvement in the cognitive status corresponds to a significant improvement in weakness, depression, and appetite. Conversely, the occurrence of delirium in patients who had a normal cognitive status at admission significantly increases the level depression, while the level of weakness and appetite decrease. Symptom expression is amplified in patients with delirium admitted to home care or hospices, while patients without delirium can be more responsive to palliative treatments with a significant decrease in intensity of ESAS items

The challenge of achieving palliative care goals for a growing number of patients is facing numerous obstacles in Italy, including a shortage of health professionals with specific qualifications and skills in palliative care. The Italian Society of Palliative Care (SICP) has defined a multidisciplinary working group with the aim of proposing some recommendations on staffing standards for specialist palliative care teams operating in Local Palliative Care Networks (RLCPs) for adults. The proposal of specialist medical and nursing staff for palliative care at home, in hospice and in hospital, is based on an in-depth analysis of the national and international scientific literature, on original data collected by the Regional Coordinators of the SICP and on the consensus reached within the members of the Working Group, all professionals experienced in palliative care. The integration of the human resources available within the RLCP avoids the fragmentation or multiplication of services and makes them economically sustainable.

The purpose of this article is to illustrate the main topics about safety of drug treatments and risk management as explained in the Italian ministerial recommendations and guidelines developed between 2008 and 2018. Risk management is a system of preventing or reducing the likelihood that dangerous accidents or mistakes will occur. In this article we considered the palliative care setting and we focused on high risk drugs, look alike/sound alike drugs, anticipatory medicines, telephonic or verbal prescription, prescription at discharge, drug recognition and reconciliation and therapy via elastomer.

The allocation to general vs specialist palliative home care services is decided by theHome Palliative Care Unit (HPCU). The HPCU needs validated tools analyzing and stratifying the complexity and supporting good partnership working between Generalist and Specialist PCT. Methods. In order to define factors supporting the choice of Generalist versus Specialist PCT, Experts of Palliative Care Service of Emilia Romagna Region (Italy) according to Regional Health Policies Group defined a new tool to identify palliative care patient’s and family’s needs. We created a screening tool identifying terminally ill cancer metastatic patients in need of referral to a PC Generalist or Specialist PC at home than we performed a prospective, observational, no profit, multicenter study to testing it. The questionnaire compiled by the HPCU team to describe what it detected at home was reviewed by a second team (Comparison Team 2) to assess the convergent validity and inter-observer reproducibility. Results. There were 119 patients who could be evaluated. The dimensions investigated by the instrument that were most relevant in the assignment of the specialist care level were: presence of an evolutionary-unstable clinical picture, finding of limited therapeutic options for symptom control, presence of dyspnea. The convergent validity was moderate in this first phase of the study (Cohen’s Kappa 0.49); the inter-observer reproducibility in Team 2 was excellent (Cohen’s Kappa 0.94). Conclusions. The tool proved to be an easy and quick to use tool. The results of the first step are encouraging and guide the new research protocol as part of the Emilia-Romagna Year 2020 Health Research Program aimed at retesting the modified tool in the formulation of the questions, calibrated based on the results of the study.