Search results for "25"
showing 10 items of 3263 documents
GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency
2019
Abstract Children with chromosome translocations, concerning X chromosome, have a genetic pattern different from Turner syndrome; however, when a translocation involves the of part of X chromosome including short stature homeobox-containing Sex-determining Region Y gene, growth may be severely compromised. We describe the clinical case of a 2.2-year-old-female, arrived at our paediatric unit for a decrease of height velocity. The karyotype was 46,XX,add(X)(p36.3). Array comparative genomic hybridization showed a fragment of Y chromosome, extended from 8.803.981 (Yp11.2) to 28.767.604 (Yq11.23). The final karyotype was 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2). Fluorescence in situ Hybridization…
Psicosi: integrazione della sintomatologia, ristrutturazione dell'Io, riorganizzazione del Sè
2015
clinical practice identifies the reactivation of reality testing as the most achievable and desirable aim in the healthcare-specialized treatment of psychosis. In summary, in the cases of psychotic onset and similar scenarios, a positive intervention is represented by those circumstances in wich the patient is able to regain his status quo ante the acute phase of the disorder. This phase, just to be clear, is the on throughout which the most representative symptoms, such as delusions and hallucinations, arise determining the dissociative state-. In addition, if during the reorganization of reality testing thethe patient is able to have a critical position relating to his acute state, and th…
T42. JUMPING TO CONCLUSIONS IS ASSOCIATED WITH THE POLYGENIC RISK SCORE FOR INTELLIGENCE BUT NOT FOR SCHIZOPHRENIA. PRELIMINARY FINDINGS FROM THE EU-…
2019
Background Psychotic patients tend to require less evidence to make decisions compared to general population. This bias named Jumping to Conclusions (JTC) has been found at First Episode Psychosis (FEP) in schizophrenia patients and associated with proneness to psychotic-like experiences in the general population. Interesting findings showed also strong association with lower cognitive functioning in psychotic patients, which in turn has been shown as a candidate intermediate phenotype for psychosis. Overall, findings to date could suggest a shared genetic liability between the occurrence of JTC and psychosis, potentially via IQ. The present study aims to investigate whether the presence of…
O4.8. CAN YOU SPOT EMOTIONS? FACIAL EMOTION RECOGNITION AND GENETIC RISK FOR PSYCHOSIS
2019
Background Facial emotion recognition (FER) is a key component of social cognition which has been found consistently impaired in schizophrenia. Deficits in global facial affect recognition have been also found in First Episode Psychosis (FEP) with the same severity as at further stages, especially for anger recognition. Literature to date has shown intermediate emotion recognition ability in either people with family history for psychotic disorders and unaffected relatives of psychotic patients, in a continuum between patients and healthy controls. Furthermore, Polygenic Risk Score (PRS) for schizophrenia has been found associated with social cognition, especially with facial emotion identi…
Psychosis, symbol, affectivity 1: etiopathogenesis and treatment through analytical psychology
2021
This is the first of two papers concerning our study into an integrated approach to psychotic disorders, conducted at the University of Palermo's Psychiatry Unit Polyclinic over approximately 15 years. Here we will explore and reflect upon the acute psychotic condition mainly from a theoretical and conceptual perspective, while in the second paper we will explore the clinical perspective. From the point of view of psychopathology, and in the light of C.G. Jung's conceptualization of analytical psychology, as well as calling on contributions from other authors from the systemic-relational and post-psychoanalytic field, we will clarify the ideas developed over these last few years by our team…
The role of gut micorbiome in obesity and diabetes
2019
Background Obesity and diabetes became a grooving problem in both adults and children. Many hypotheses concerned agents involved in the excessive weight gain process and it’s consequences. Not only genetic or environmental factors, but also intestinal microbiome seems to play a role in the pathophysiology of this phenomenon. Data sources A systematic review was conducted using Pubmed as the medical database source. Studies concerning connection between microbiome and metabolic disorders such as obesity and diabetes from last 10 years were analyzed. Results Intestinal bacteria may be involved both in the development of obesity, and its further complications. The pro-infammatory and immunomod…
The relationship of symptom dimensions with premorbid adjustment and cognitive characteristics at first episode psychosis: Findings from the EU-GEI s…
2021
Premorbid functioning and cognitive measures may reflect gradients of developmental impairment across diagnostic categories in psychosis. In this study, we sought to examine the associations of current cognition and premorbid adjustment with symptom dimensions in a large first episode psychosis (FEP) sample. We used data from the international EU-GEI study. Bifactor modelling of the Operational Criteria in Studies of Psychotic Illness (OPCRIT) ratings provided general and specific symptom dimension scores. Premorbid Adjustment Scale estimated premorbid social (PSF) and academic adjustment (PAF), and WAIS-brief version measured IQ. A MANCOVA model examined the relationship between symptom di…
Cognitive thought diary in supportive psychology for people undergoing radiotherapy: a feasibility study
2017
BAC KGROUND: Radiation therapy (RT ) has become one of the most widely-used and efficient treatments for cancer; nevertheless, people who undergo radiotherapy suffer the physical and psychological consequences of this stressful treatment, in addition to the psychosocial distress related to cancer. However, a Radiotherapy Unit is often a place where several patients crowd in from various hospitals with restricted timetables and, for logistic reasons, it is not easy to provide regular psychological sessions for each one. It is important to find a setting that allows us the involvement of the largest number of patients referred to the unit. In this study, we aimed to evaluate the feasibility a…
Maternal adiposity in pregnancy and offspring asthma in adulthood.
2018
High maternal body mass index in pregnancy was associated with an increased prevalence of offspring asthma in men in adult life
Spanish multicentre study on morbidity and pathogenicity of tracheal bronchus in children.
2019
Tracheal bronchus (TRB) has been generally considered an anatomical variant of the tracheobronchial tree without a precise pathological effect. Its prevalence is estimated to be between 0.2% to 3% of all children undergoing bronchoscopy and scientific information has been limited to case reports or small case series. Our working hypothesis was that TRB could trigger by itself recurrent or persistent respiratory symptoms. The objective of this retrospective and multicentre study of children with a diagnosis of TRB, coming from the main paediatric pulmonology units of Spain, was to determine the anatomical and clinical characteristics, including comorbidities, of TRB in childhood and their im…