TWNK in Parkinson's Disease: A Movement Disorder and Mitochondrial Disease Center Perspective Study

Background: Parkinsonian features have been described in patients harboring variants in nuclear genes encoding for proteins involved in mitochondrial DNA maintenance, such as TWNK. Objectives: The aim was to screen for TWNK variants in an Italian cohort of Parkinson's disease (PD) patients and to assess the occurrence of parkinsonism in patients presenting with TWNK-related autosomal dominant progressive external ophthalmoplegia (TWNK-adPEO). Methods: Genomic DNA of 263 consecutively collected PD patients who underwent diagnostic genetic testing was analyzed with a targeted custom gene panel including TWNK, as well as genes causative of monogenic PD. Genetic and clinical data of 18 TWNK-adPEO patients with parkinsonism were retrospectively analyzed. Results: Six of 263 PD patients (2%), presenting either with isolated PD (n = 4) or in combination with bilateral ptosis (n = 2), carried TWNK likely pathogenic variants. Among 18 TWNK-adPEO patients, 5 (28%) had parkinsonism. Conclusions: We show candidate TWNK variants occurring in PD without PEO. This finding will require further confirmatory studies. © 2022 Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson Movement Disorder Society

Extensions of Clinical Psychology to The Health and Institutional Areas

A theoretical model, with the application derived from it, born in a specific moment of social organization, has to undergo modifications to maintain its efficacy when there are organizational changes. The present paper discusses the importance of diagnosis as an instrument for comprehension of potentiais of the individual situation. The brief psychoanalytic therapy can be extended to borderline patients, with careful consideration of theoretical and technical changes and evaluation of the efficacy of the new procedures. Puerperium can be classified as a period of crisis, although it leads to great changes and to a reorganization of the family group. This article presents some instances of the clinical psychologist's intervention in hospitals and health institutions: neonatology, psychiatric hospital, heart transplant