Neuropsychiatric, neuropsychological, and neuroimaging features in isolated REM sleep behavior disorder: The importance of MCI

Mild cognitive impairment (MCI) is frequently diagnosed in patients with isolated rapid eye movement (REM) sleep behavior disorder (iRBD), although the extent of MCI-associated neuropathology has not yet been quantified. The present study compared the differences in neuropsychiatric, neuropsychological, and neuroimaging markers of neurodegeneration in MCI-iRBD and iRBD patients with normal cognition

Sequential Strategies to Trigger Mild Dearomative Diels-Alder Cyclizations

Dihydronaphthalenes are present in several functional molecules, but their assembly is challenging. However, a sequential strategy can induce the key annullation of an alkyne with a vinylarene under mild conditions. Products form in good yields, with ample functional tolerance via domino nucleophilic substitution and dearomative Diels-Alder and ene reactions. DFT modeling data show that alkali cations are crucial to ensure a smooth dearomative cyclization on the in situ generated intermediates

Nursing home staff members’ knowledge, experience and attitudes regarding advance care planning: a cross-sectional study involving 12 Italian nursing homes

Background: Advance care planning may be beneficial for nursing home residents, but its implementation is suboptimal in several countries. Aims: To investigate knowledge of, attitudes towards, and experience with advance care planning of nursing home staff members in Italy. Methods: Cross-sectional survey involving all healthcare professionals working in 12 Italian nursing homes. Statistical analyses investigated interactions between participants’ characteristics, knowledge, attitudes and frequency of advance care planning discussion with residents. Results: Of the 185 participants (80.5% female, mean age 43.6 ± 9.2 years), 29.7% reported that they had heard of advance care planning, but their actual knowledge was suboptimal. Participants had positive attitudes towards advance care planning, and most of them clearly recognized its benefits. Apprehension about upsetting the patient or their family, or that patients were not ready for these conversations were the main concerns. Only 16% of respondents discussed advance care planning at least sometimes, usually upon patient/family input. Greater knowledge was significantly correlated with more positive attitudes towards advance care planning. The issues of healthcare professionals’ knowledge and training in advance care planning, and of knowledge and awareness of advance care planning in patients, their families, and the general population were considered either main barriers or facilitators. Discussion: Nursing home staff members’ concerns towards advance care planning seemed to be related to a misconception about patient and family willingness to discuss it. Conclusions: A multifaceted strategy including educational and training programmes and the increase of public awareness is needed to implement advance care planning in Italian nursing homes

A new germline RET mutation apparently devoid of transforming activity serendipitously discovered in a patient with atrophic autoimmune thyroiditis and primary ovarian failure

Gain-of-function RET mutations are responsible for multiple endocrine neoplasia syndromes (MEN) 2A and 2B and familial medullary thyroid carcinoma (FMTC), whereas loss-of-function mutations are found in Hirschsprung disease. We report a new RET point mutation [R694Q (CGG3CAG)], serendipitously found in a 23-yr-oldwomanwith hypothyroidism due to atrophic Hashimoto’s thyroiditis and primary ovarian failure, without altered calcitonin secretion. Familial history and clinical and biochemical evaluation of first-degree relatives were negative for FMTC, MEN 2A and 2B, and Hirschsprung disease. Genetic analysis showed that the mutation was inherited from the mother, who was submitted 2 yr before to thyroidectomy for goitrous Hashimoto’s thyroiditis. Histological revision and immunohistochemical studies documented normal C cell number and morphology. We cloned the mutation in an expression vector encoding a full-length RET protein. The construct was transiently expressed in 293T cells in parallel with a wild-type RET and a C634RMEN2A-associated RET mutant. Proteins were harvested from transfected cells, and tyrosine phosphorylation levels were assayed. The mutation did not exert significant potentiating effects on RET kinase. A focus assay was also performed on NIH3T3 fibroblasts; the mutant did not exert significant transforming activity. In conclusion, a new RET mutation was found in two subjects without any evidence ofMENand FMTC. In keeping with clinical data, transfection studies confirmed lack of activating activity. This serendipitous discovery, apparently devoid of oncogenic potential, underscores the problems that may be encountered in genomic studies on RE

PET Criteria by Cancer Type from Imaging Interpretation to Treatment Response Assessment: Beyond FDG PET Score

Background: in recent years, the role of positron emission tomography (PET) and PET/computed tomography (PET/CT) has emerged as a reliable diagnostic tool in a wide variety of pathological conditions. This review aims to collect and review PET criteria developed for interpretation and treatment response assessment in cases of non-[18F]fluorodeoxyglucose ([18F]FDG) imaging in oncology. Methods: A wide literature search of the PubMed/MEDLINE, Scopus and Google Scholar databases was made to find relevant published articles about non-[18F]FDG PET response criteria. Results: The comprehensive computer literature search revealed 183 articles. On reviewing the titles and abstracts, 149 articles were excluded because the reported data were not within the field of interest. Finally, 34 articles were selected and retrieved in full-text versions. Conclusions: available criteria are a promising tool for the interpretation of non-FDG PET scans, but also to assess the response to therapy and therefore to predict the prognosis. However, oriented clinical trials are needed to clearly evaluate their impact on patient management