Characterization of endocrine features and genotype-phenotypes correlations in blepharophimosis-ptosis-epicanthus inversus syndrome type 1.

OBJECTIVE: Blepharophimosis syndrome (BPES) is an autosomal dominant genetic condition resulting from heterozygous mutations in the FOXL2 gene and clinically characterized by an eyelid malformation associated (type I) or not (type II) with premature ovarian failure. The distinction between the two forms is critical for female patients, as it may allow to predict fertility and to plan an appropriate therapy. Identifying an underlying causative mutation is not always predictive of the clinical type of BPES since genotype-phenotype correlations are not yet fully delineated. Here, we describe the clinical and hormonal phenotypes of three female patients with BPES type 1 from two novel families, correlate their phenotypes with identified mutations, and investigate the effects of hormone replacement therapy (HRT). METHODS: Clinical, biochemical, and genetic evaluation were undertaken in all the patients and genotype-phenotype correlation was analyzed. The effects of substitutive hormonal therapy on secondary sexual characteristics development and induction of menarche were evaluated. RESULTS: All patients presented with primary amenorrhea or other signs of ovarian dysfunction. Two distinct mutations, a missense p.H104R change and an in-frame p.A222_A231dup10 duplication in the FOXL2 gene were identified. Observed phenotypes were not in accordance with the prediction based on the current genotype-phenotype correlations. HRT significantly improved secondary sexual characteristics development, as well as the induction of menarche. CONCLUSIONS: This study highlights the importance of early recognition of BPES and emphasizes the need of personalized therapy and follow-up in female patients carrying distinct FOXL2 mutations.

Contributi scientifici in memoria di Antonio Fusco.

Come si leggerà nell'Introduzione della sezione propriamente scientifica del Volume, il presente testo nasce dalla volontà e, soprattutto, dall'esigenza culturale di omaggiare il fu Prof. Antonio Fusco. Un debito scientifico ed umano che trova il suo locus naturale in questa prima parte del testo stesso, cui farà poi seguito la parte propriamente scientifica. In siffatta parentesi dovuta per le ragioni appena menzionate, il lettore, l'amico o l'allievo dell'opera del Prof. Fusco potranno trovare un suo sintetico Curriculum Vitae, correlato da una specifica ed accurata prosa, svolta dal già Magnifico Rettore Carlo Cipolli; il quale, oltre che evidenziare, ricordando, i meriti del collega oramai scomparso, aggiunge alsuo scritto un elemento che sarebbe imprescindibile a non trasformare lo stesso in una mera sequenza di parole: l'amicizia e l'affetto per un amico che, oramai, non c'è più. A fine lettura, evidente risuonerà il fatto che la vita di ognuno, se mossa dalla passione per ciò per cui si è predisposti cognitivamente e psicologicamente, può essere ricca di riconoscimenti, riconoscenze e soddisfazioni che, lungi dal divenire un cuscino di allori su cui adagiarsi, per una mente creativa come quella del Prof. Fusco hanno funto solo da motivazioni ad agire instancabilmente guardando sempre al futuro. Il lavoro di una vita che, materialmente, è sancito da un supporto poco più di cm 25x15: una targa. Una materialità evidente che, con grande commozione e riconoscenza, è stata affissa il 25 ottobre 2019 sull'aula fronte l'Aula Magna del Campus "La Folcara", a testimonianza che quello spirito creativo in continua evoluzione non si ferma; non si arresta neppure con la fine biologica di chi lo ha "posseduto". Rimangono le opere ed il pensiero del Prof. Fusco e restano gli affetti. A tal proposito, il lettore troverà una breve e sentita sezione su Testimonianze; coloro i quali hanno avuto modo, nell'arco della vita accademica ed umana, personale, di Fusco di conoscerlo. Ecco, allora, che i ricordi saranno i veri protagonisti di questa parentesi. Dopo di ciò, prima dei contributi prettamente scientifici dei lavori, tenutisi in occasione del Convegno Internazionale Psicologia, Arte, Letteratura. Antiche e Nuove Tendenze, seguiranno i saluti delle autorità che in quei due giorni si sono succedute a rappresentare non solo l'istituzione affiliata, ma anche la relazione di stima e di affetto che le legava al compianto Professore. Si passerà, infine, al volume tradizionalmente inteso.

A clinical diagnostic algorithm for early onset cerebellar ataxia.

Early onset cerebellar Ataxia (EOAc) comprises a large group of rare heterogeneous disorders. Determination of the underlying etiology can be difficult given the broad differential diagnosis and the complexity of the genotype-phenotype relationships. This may change the diagnostic work-up into a time-consuming, costly and not always rewarding task. In this overview, the Childhood Ataxia and Cerebellar Group of the European Pediatric Neurology Society (CACG-EPNS) presents a diagnostic algorithm for EOAc patients. In seven consecutive steps, the algorithm leads the clinician through the diagnostic process, including EOA identification, application of the Inventory of Non-Ataxic Signs (INAS), consideration of the family history, neuro-imaging, laboratory investigations, genetic testing by array CGH and Next Generation Sequencing (NGS). In children with EOAc, this algorithm is intended to contribute to the diagnostic process and to allow uniform data entry in EOAc databases.

Psychological stress measure in type 2 diabetes.

Psychological stress has been implicated as a cause of several psychosomatic disorders, but also as a factor that can unfavourably influence many diseases including diabetes mellitus. Measure of psychological stress in diabetes was performed by Psychological Stress Measure (PSM), a validated instrument, designed using 49 items drawn from descriptors generated by focus groups on stress. Clinical and psychological framework was assessed in a cohort of 100 type 2 diabetic patients (30 m, 70 f), aged 66.99 +/- 13.68 years considering disease grade, complications and level of instruction. Three other questionnaires were administered concurrently to all patients: Sickness Impact Profile (SIP), Functional Living Index (FLI) and SF-36 QOL. ANOVA statistical testing and Spearman correlation matrix were used also vs socio-cultural and clinical profile. Gender, obesity, diet compliance, smoking do not affect PSM response. Hypertensive patients and those with family history of diabetes show lower PSM scores, according to a sort of moderator effect on stress of concurrent and/or previous experience with chronic disease. Neuromuscular ailments are more prevalent in women; men vs women experience severe limitations of their working capacities and relational possibilities, with severe discomfort. In the whole, higher scores of PSM (greater stress p < 0.01) and lower scores of FLI (fair well-being perception; p < 0.01) are reciprocally related inside any school instruction level. Despite the great reciprocal association of the PSM vs FLI and SIP, no significant correlation is found between PSM vs SF-36 QOL. Socio-cultural elements interfere, and particularly instruction level quantified as school grades achieved, with the manner of living their disease. Interventions on psychological distress of type 2 diabetes mellitus patients is warranted, specially in the groups with lower levels of instruction which may need an attentive strategy for achieving a satisfactory coping with this disease.

Neuropsychology of selective attention and magnetic cortical stimulation.

Informed volunteers were asked to perform different neuropsychological tests involving selective attention under control conditions and during transcranial magnetic cortical stimulation. The tests chosen involved the recognition of a specific letter among different letters (verbal test) and the search for three different spatial orientations of an appendage to a square (visuo-spatial test). For each test the total time taken and the error rate were calculated. Results showed that cortical stimulation did not cause a worsening in performance. Moreover, magnetic stimulation of the temporal lobe neither modified completion time in both verbal and visuo-spatial tests nor changed error rate. In contrast, magnetic stimulation of the pre-frontal area induced a significant reduction in the performance time of both the verbal and visuo-spatial tests always without an increase in the number of errors. The experimental findings underline the importance of the pre-frontal area in performing tasks requiring a high level of controlled attention and suggest the need to adopt an interdisciplinary approach towards the study of neurone/mind interface mechanisms.

Perception of cultural correlates of medicine: a comparison between medical and non-medical students--the authoritarian health.

UNLABELLED: Aim of the study was to ascertain if a common cultural feeling of young people toward health, disease, physician's role and doctor-patient relationship, is present, and if under- and post-graduate students concepts and opinions modify during their stay in a School of Medicine. The study (1999-2001) was performed by anonymous questionnaires with 75 students (m = 28; f = 47) of the State School of Medicine, tested at the 3rd year, and with 73 students (m = 29; f = 44) tested at the 5th year of course; moreover with 71 (m = 30, f = 41) postgraduate residents at the 3rd year of specialty (Internal Medicine, Cardiology and Surgery). A group of 76 (m = 33; f = 43) students of the last year of a high school was also tested as reference group. RESULTS: Interference of medical under- and post-graduate school curricula on thoughts of youngsters toward health, disease, physician's role and doctor-patient relationship appears quite limited. Dissimilar way of thinking of medical vs. non-medical students was confined to some aspects concerning patient's possibility of healing, physician's role, behavior and function in chronic diseases. In the whole, our results suggest a trend, growing with the age of students, toward a more authoritarian and less "participative" approach with the patient: less confident relationship and more conflictual and antagonistic behaviors are widely considered and accepted. A general perspective with the construct of an authoritarian concept of health is superimposed as a net of rules and conditions on feelings' background of youngsters: postgraduate students regard themselves (and are perceived by younger students) as the guardians of an "healthy" system founded on scientific, economical and sociological grounds, as a work pointing to effectiveness, more than as a science with the target of efficacy. CONCLUSION: Impact of curricular studies of Medicine on youngsters is complex, but seems to modify only some and limited aspects of previously acquired thoughts and feelings on health and disease.

Influence of instructions and cognitive articulation on reducing the Müller-Lyer illusion with a repeated trial.

The role of specific, suggestive instructions and of the subject's cognitive articulation in fostering modifications of Müller-Lyer illusory effect was studied. 60 female students were divided into four subgroups on the basis of (a) Witkin's GEFT scores and (b) instructions given to the subjects for the repeated trial. Analysis shows no statistically significant difference between the more and less articulated subjects on the first trial, for influence of both cognitive articulation and instructions or their interaction on the reduction of the illusion. Data are interpreted in terms of some theoretical explanations of geometrical illusions, such as 'centration theory' and 'assimilation theory'.

Cognitive correlates of laterality in mental retardation.

Correlations of various laterality score for 202 persons with cognitive test scores in the seventies of mental retardation are presented.

Laterality and handedness in mentally retarded subjects.

In a study of 69 adults with mental retardation, atypical laterality measured on 12 tasks was only partially noted. Distribution of over-all laterality scores was different from that of handedness with more left-handed than left lateralized and more right manual preference among the 43 women.

Rorschach indices for discriminating between two schizophrenic syndromes.

Thinking disturbance and disorder of affects may be different in two subtypes of schizophrenia, the "florid" and the "withdrawal" syndromes. In Exner's approach to the Rorschach system, the diagnostic indicators of disordered thinking may point out large differences not only between schizophrenic and control subjects but also between different types of schizophrenics. The Rorschach protocols of 45 subjects (15 "florid" schizophrenics, 15 "withdrawn" schizophrenics, and 15 controls of the same age and education, matched by sex) were examined on several Exner indices. Compared with the control group, both schizophrenic types confirmed an impairment of perceptual accuracy and of reality testing as well as a reduced emotional control. Compared with the "withdrawn" group, the "florid" schizophrenic subjects showed significantly higher indices of poor perceptual functioning, of an inadequate organizational activity (more Whole and Z responses characterized by negative Form Quality) and greater disordered ideational production.

Attentional memory and visualization strategies in mental additions.

To evaluate the role of attention, memory span, and visualization in the performance of additions carried out mentally, two blocks of mental additions, differing in difficulty were presented to 18 women and 18 men who recorded after the first block the strategy used for solution. The 24 subjects who did not spontaneously use a visual strategy (mentally putting digits into columns) were induced to adopt it for the second block of additions. Previously, the subjects' processing of visual images, memory for digit span, and resistance to distraction were assessed using imagery tasks, a Digit-span test, and the Stroop Color-Word test. Analysis showed that in the execution of mental addition use of different strategies did not influence significantly the performance on the easier items, whereas for more difficult calculations a nonvisual strategy appeared more effective. Subjects who had lower scores on visualization did worse if they spontaneously used a 'putting-into-columns' strategy or if induced to change a strategy and adopt a visual one.

Rorschach cognitive developmental indices of mentally retarded persons: a comparison with scores on Wechsler Intelligence Scale for children-revised.

In a sample of 55 mentally retarded subjects (M age = 14 yr., 1 mo.) the relations between some perceptual and cognitive Rorschach indices, including the Becker's Genetic Level Score, and Wechsler Scale scores were studied. The mean Developmental Score did not increase across ages and was higher for girls than for boys, while Verbal and Performance IQs were lower for girls. The correlations confirm the hypothesis that for mentally retarded persons WISC-R scaled scores and Rorschach cognitive indices are different measures of intellective functioning. The findings are discussed with reference to the assessment and rehabilitation of retarded subjects.

[Quality of life in menopause. Experimental research]. / Qualità di vita nella menopausa. Una ricerca sperimentale.

Psychophysiological relationship in menopausal women was explored by the comparison of stress level and resistance to stress and related symptoms: socio-economic and cultural variables and willingness to participate into a specific therapeutic program were taken into account. One hundred women, aged 44-59 years (54.2 +/- 5.64), that consecutively were referred to an out-patient menopausal Clinic, were studied by a questionnaire that evaluates quality of life (qol) derived and adapted from the Sickness Impact Profile and the Functional Living Test; moreover the test MSP (psychological stress measurement), translated from the original and adapted to Italy, was used. Psychological complaints of women examined are minimal: adaptation tests are substantially normal, and stress index measurements are even lower in comparison with a gender and age matched population group. Our results suggest that after a short period of psychological tension at the onset of climaterium, women acquire a positive, stable status, well different from stereotypes and prejudices around psychological disturbance associated with menopause. Minimal relevance of perceived disturbance seems the reason that limits the women's need and request for a specific therapy. Menopausal depression seems more related to life changes than to hormonal alterations. Reduced physical fitness, increased risk of parental death, difficulty to cope with new roles, apart the care of adult sons or daughters. A critical point is socio-economic level and the possibility to maintain a satisfying work. Contextual conditions, and specially degree of instruction, type of role change inside the family and number of sons, appears the most evident and relevant variables that mediate psychophysical conditions and perceived quality of life.

[Quality of life in hemodialyis patients: the effect of educational status]. / Qualità della vita in emodialisi: interferenza del grado di istruzione scolastica.

INTRODUCTION: Hemodialysis has a major influence on the quality of life of chronic renal failure patients. Great attention is currently paid to the development of supporting programmes for this patient group. Aim of this study was to evaluate the quality of life in maintenance dialysis and to research the influence of various factors related to treatment and ESRD on quality of life, taking into account also the level of school instruction. PATIENTS AND METHODS: Reduced functional abilities, as measured by the Sickness Impact Profile (SIP), and Functional Living Test (FLT), derived by Karnofsky Activity Scale were assessed; Hospital Anxiety and Depression Scale (HAD) and semistructured interviews, including a clinical grading of symptoms were considered vs. age, duration of dialysis, level of school instruction. The study was performed with 40 hemodialysis patients, aged 57.4 +/- 14.9 years (range 22-79), treated since at least three years. RESULTS: Significant (P < 0.05) independent correlates with higher SIP scores (greater disability) and Functional Living Test were lower educational level, and the score of Hospital Anxiety and Depression Scale (HAD). No correlation was found for any of the three scales vs. age and vs. dialytic age; no gender difference was observed. DISCUSSION: A greater care in considering Quality of Life questionnaires is warranted, especially for the severe interference of instruction level of patients on results. QALY (Quality Adjusted Life Years), used as a tool for decision-making in clinical and political subsets, can include critical bias that invalidate conclusion.

[Quality of life in diabetes]. / Qualità della vita nel paziente diabetico.

Different clinical features of diabetic patients and type of complications are certainly a critical components of the global individual perception of quality of life (qol); but also personal socio-cultural characteristics interfere concurrently. Qol in diabetes was assessed considering disease grade, complications and level of instruction in a population of 100 diabetic patients (30 m, 70 f), aged 66.99 +/- 13.68 years. Two questionnaires were administered to all patients; Sickness Impact Profile (SIP) and Functional Living Index (FLI). SIP is an index of psycho-social, physical and motor functionality; FLI derives from a scale devised for cancer patients and adapted to diabetic patients. Both were analysed by Spearman correlation test, and assayed vs. sociocultural profile and clinical symptoms. Neuro-muscular ailments were more prevalent in women; men experience severe limitations of working capacities an relational possibilities, with severe discomfort. In the whole, higher scores of SIP (greater disability p: ns) and lower score for FLI (scant well-being perception r = 0.29: p<0.01) are related with lower school instruction level. Global QOL score is related as well with degree of instruction (r = 0.22: p<0.03). So QOL is altered during chronic diseases: however, in diabetes, qol impairment does not seem related with severity, treatment features and complications of diabetes. Socio-cultural elements, and particularly instruction level quantified as school grades achieved, interfere with the manner of living diabetic disease.

Somatopsychic correlates and quality of life of the dialyzed patient: a cross-sectional study.

BACKGROUND: The dialysis delivered after a chronic kidney disease (CDK) or any otherwise severe end-stage renal failure is a complex medical task, leading to major medical and psychopathological distress for the patient. The aim of the present study was to analyze the impact of the dialysis experience on the nephrologic patient's global quality of life. METHODS: In the present cross-sectional study, involving 96 patients with end-stage renal disease receiving hemodialysis, demographic, medical, and psychological differential features across different CDK diagnoses were accounted and were then correlated each other. RESULTS: Among other differential features, the "acknowledgement of dependence" (from the medical device delivering the dialysis) emerged as a factor correlated to "self-sufficiency" in CDK patients receiving hemodialysis. CONCLUSIONS: Although further, larger-sampled studies on the topic are needed, medical and psychological interventions are useful to ensure a better global quality of life and good therapeutic adherence in dialysis patients.

The Rorschach Egocentricity Index in subjects with intellectual disability: a study on the incidence of different psychological pathologies.

The aims of the present research were to assess the level of self-concern in people with intellectual disability using the Rorschach Egocentricity Index, to correlate the Index with other Rorschach and IQ variables, and to study the effect of associated psychological pathology. The Rorschach Inkblot Test and the Wechsler Intelligence Scale were administered to a group of 75 subjects with intellectual disability, aged between 18 and 38 years, who were divided into subgroups according to their additional diagnosis (i.e. personality disorders, psychosis and depression). A fourth subgroup was composed of people with intellectual disability but without other pathologies. The Egocentricity Index was very low in the subjects with intellectual disability and differences were a result of the effects of additional psychological pathologies. The meaning of the measurement of egocentricity in people with intellectual disability is discussed.