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1.
Health Policy ; 142: 104960, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38377670

RESUMEN

BACKGROUND: Immigration has become a structural phenomenon in Italy, a country reputed as being 'immigrant-friendly'. The increase in the proportion of immigrants has led to increasing efforts to design and implement health policies throughout the country while controlling public spending. METHOD: Being interested in both the cross-sectional and time series dimensions of analysis, we used a PVAR (Panel Vector Autoregression) model, which combines the VAR technique with panel data models, to estimate the impact of regular immigration on health expenditure. FINDINGS: Our results confirm that an increase in the share of regular immigrants in the total population decreases the amount of aggregate public health expenditure. CONCLUSION: Despite the intense activity by Italian governments on social and health integration policies for immigrants, policymakers may focus more on the implementation of national policies at regional and local levels, on their costs and with a specific focus on undocumented immigrants.


Asunto(s)
Emigrantes e Inmigrantes , Gastos en Salud , Humanos , Estudios Transversales , Emigración e Inmigración , Política de Salud , Accesibilidad a los Servicios de Salud
2.
Harmful Algae ; 131: 102560, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38212084

RESUMEN

Along the Italian coasts, toxins of algal origin in wild and cultivated shellfish have been reported since the 1970s. In this study, we used data gathered by the Veterinary Public Health Institutes (IZS) and the Italian Environmental Health Protection Agencies (ARPA) from 2006 to 2019 to investigate toxicity events along the Italian coasts and relate them to the distribution of potentially toxic species. Among the detected toxins (OA and analogs, YTXs, PTXs, STXs, DAs, AZAs), OA and YTX were those most frequently reported. Levels exceeding regulatory limits in the case of OA (≤2,448 µg equivalent kg-1) were associated with high abundances of Dinophysis spp., and in the case of YTXs (≤22 mg equivalent kg-1) with blooms of Gonyaulax spinifera, Lingulodinium polyedra, and Protoceratium reticulatum. Seasonal blooms of Pseudo-nitzschia spp. occur all along the Italian coast, but DA has only occasionally been detected in shellfish at concentrations always below the regulatory limit (≤18 mg kg-1). Alexandrium spp. were recorded in several areas, although STXs (≤13,782 µg equivalent kg-1) rarely and only in few sites exceeded the regulatory limit in shellfish. Azadinium spp. have been sporadically recorded, and AZAs have been sometimes detected but always in low concentrations (≤7 µg equivalent kg-1). Among the emerging toxins, PLTX-like toxins (≤971 µg kg-1 OVTX-a) have often been detected mainly in wild mussels and sea urchins from rocky shores due to the presence of Ostreopsis cf. ovata. Overall, Italian coastal waters harbour a high number of potentially toxic species, with a few HAB hotspots mainly related to DSP toxins. Nevertheless, rare cases of intoxications have occurred so far, reflecting the whole Mediterranean Sea conditions.


Asunto(s)
Bivalvos , Dinoflagelados , Animales , Toxinas Marinas , Mariscos/análisis , Alimentos Marinos/análisis , Saxitoxina , Italia
3.
Minerva Pediatr (Torino) ; 75(3): 387-394, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-29460551

RESUMEN

BACKGROUND: Aim of the study was to collect information about emotional features in a sample of immigrant preadolescents in order to identify traits of emotional fragility or psychopathological risk factors. METHODS: The sample consists of 1206 preadolescents (180 immigrants, 1026 Italian natives) attending the third year of the middle schools. In order to assess anxiety levels and the presence of depressive symptoms the Self-Administered Psychiatric Scale (SAFA-A) and the Children's Depression Inventory (CDI) were administered. Coping strategies and behavior problems were evaluated by the Coping Inventory for Stressful Situation (CISS) and the Youth Self Report scale (YRS). All teachers filled out the Teacher's Report Form (TRF). Parents were asked to fill out a form on social-demographic features and the Multidimensional Scale of Perceived Social Support (MSPSS). RESULTS: Immigration resulted a risk factor for development of anxiety (OR=0.702), depression (OR=0.644), internalizing problems (OR=0.685), behavior problems (OR=0.622) and total problems (OR=0.719). Teachers observed more behavior problems and lower competences in immigrants than natives. Immigrants relied significantly more often on emotion-oriented coping strategies to resolve stressful situation than natives (P=0.045). Analyzing the immigrants' sample, second generation children reported significantly higher levels in total competence (school, activity and relationship) than first generation ones (P≤00.1); on the contrary there were no significant differences between the two groups concerning other behavioral and emotional problems or the preferred coping style. Natives' families reported significantly higher levels of perceived support than immigrant ones. CONCLUSIONS: Our findings confirm the hypothesis that preadolescent immigrants are more at risk for psychopathological risk factors than native peers.


Asunto(s)
Ansiedad , Habilidades de Afrontamiento , Humanos , Psicopatología , Emigrantes e Inmigrantes , Masculino , Femenino , Niño , Ansiedad/epidemiología , Ansiedad/psicología , Italia/epidemiología , Apoyo Social
4.
Arch Ital Urol Androl ; 92(4)2020 Dec 17.
Artículo en Inglés | MEDLINE | ID: mdl-33348954

RESUMEN

OBJECTIVE: The aim of the study was to assess results and quality of life after kidney transplant in adult patients with previously bladder augmentation or urinary diversion due to significant lower urinary tract dysfunction. MATERIALS AND METHODS: This cross-sectional study examines the outcome of 19 renal allografts transplanted in patients with augmented bladder or urinary diversion over a ten years period; moreover we submitted SF36 questionnaire to evaluate quality of life of these patients and compared the results with the general population. RESULT: Between January 1, 2005 and 31 December 2015 we performed 19/1093 renal transplantations in patients with abnormal lower urinary tract previously treated with bladder augmentation or bladder recycling. Current post-transplant follow-up was 47 months (range 18-188). No patient developed any episode of acute or chronic rejection. Mean serum creatinine after one year from transplant was 102 umol/L. Overall survival is 94.8% at the end of follow-up and graft survival is 89.6%. No significant differences emerged between patients undergoing transplant with lower urinary tract dysfunction and patients without, regarding to recurrent urinary tract infection. There was not statistically significant difference for vitality (p = 0.8088) and mental health (p = 0.8668). CONCLUSIONS: Presence of a previously augmented bladder or other lower urinary tract dysfunction treated in kidney transplant patients doesn't worsen the final outcome. Mental health and the vitality of these patients are similar to the general population.


Asunto(s)
Trasplante de Riñón , Calidad de Vida , Resultado del Tratamiento , Vejiga Urinaria/cirugía , Derivación Urinaria , Adulto , Estudios Transversales , Femenino , Humanos , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Estudios Retrospectivos , Adulto Joven
5.
Eur Child Adolesc Psychiatry ; 27(7): 861-866, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29147785

RESUMEN

Long QT values have been reported in patients with anorexia nervosa of the restricting type (ANr) potentially increasing the risk of fatal arrhythmia, especially if psychotropic drug treatment is required. Nevertheless, the previous studies on this topic are biased by drug exposure, long disease durations, and small sample sizes. This study is aimed at assessing QTc and QTcd values in ANr adolescents with recent onset and drug free, as compared to subjects affected by psychiatric disorders other than ANr. We evaluated QTc and its dispersion (QTcd) in a population of 77 drug-free ANr female adolescents and compared to an equal number of healthy controls (H-CTRL) and pathological controls (P-CTRL, mixed psychiatric disorders). The QT determination was performed on a standard simultaneous 12-lead ECG in blind by a single experienced investigator. QTc was calculated by the Bazett's formula and QTcd was determined as the difference between the maximum and minimum QTc intervals in different leads. Only for ANr patients, clinico-demographic data, hormones, and electrolytes were obtained. QTc was slightly reduced in ANr patients (27.7 ms, < 10%, p < 0.0003) vs. controls, while QTcd was increased in P-CTRL (30%, p < 0.0003). Heart rate was significantly lower in ANr patients vs. controls (25%; p < 0.003). Tyroid hormones and serum potassium showed weak although significant positive correlations with QTc in ANr patients. QTcd displayed a weak negative correlation with the BMI percentile (r = - 0.262, p = 0.03). We reject the hypothesis that QTc and QTcd are increased in drug-free ANr adolescents with a relatively short-disease duration. Further studies are needed to understand if the previously reported increase might be related to other associated chronic disorders, such as hormonal or electrolyte imbalance.


Asunto(s)
Anorexia Nerviosa/diagnóstico , Electrocardiografía/tendencias , Frecuencia Cardíaca/fisiología , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Humanos
6.
Neuropsychiatr Dis Treat ; 13: 2545-2550, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-29042784

RESUMEN

Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients' quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome.

7.
Neuropsychiatr Dis Treat ; 13: 1211-1214, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28496327

RESUMEN

BACKGROUND: Anorexia nervosa (AN) is usually present in adolescence with symptoms partially overlapping celiac disease (CD), but the relationship between these two conditions has received little attention in the literature. The aim of this work was to explore this relationship, considering if CD could be associated with specific baseline AN-related clinical features. METHODS: In this retrospective study, 82 adolescent female out- and inpatients with AN of the restrictive type (ANr), according to the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition criteria, were recruited. CD diagnosis and related serology were recorded, including tissue transglutaminase type-2 antibodies, endomysial antibodies, and antibodies against deamidated forms of gliadin peptides. Eating disorder inventory-3, Children's Depression Inventory, body mass index, age, and disease duration data recorded at the time of blood withdrawal were also obtained from each patient. RESULTS: Five (6.1%) subjects presented a CD disorder associated with AN: none of the collected psychometric measures was significantly correlated with any CD-related parameter or characterized as a specific subgroup. CONCLUSION: CD diagnosis or serology does not relate to ANr clinical or demographic characteristics. However, a slight increase in prevalence with respect to the general population might be hypothesized and possibly elucidated by further studies with an appropriate design.

8.
Br J Radiol ; 90(1072): 20150472, 2017 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-28328241

RESUMEN

OBJECTIVE: To evaluate the accuracy of perfusion CT (pCT) in the definition of the infarcted core and the penumbra, comparing the data obtained from the evaluation of parametric maps [cerebral blood volume (CBV), cerebral blood flow (CBF) and mean transit time (MTT)] with software-generated colour maps. METHODS: A retrospective analysis was performed to identify patients with suspected acute ischaemic strokes and who had undergone unenhanced CT and pCT carried out within 4.5 h from the onset of the symptoms. A qualitative evaluation of the CBV, CBF and MTT maps was performed, followed by an analysis of the colour maps automatically generated by the software. RESULTS: 26 patients were identified, but a direct CT follow-up was performed only on 19 patients after 24-48 h. In the qualitative analysis, 14 patients showed perfusion abnormalities. Specifically, 29 perfusion deficit areas were detected, of which 15 areas suggested the penumbra and the remaining 14 areas suggested the infarct. As for automatically software-generated maps, 12 patients showed perfusion abnormalities. 25 perfusion deficit areas were identified, 15 areas of which suggested the penumbra and the other 10 areas the infarct. The McNemar's test showed no statistically significant difference between the two methods of evaluation in highlighting infarcted areas proved later at CT follow-up. CONCLUSION: We demonstrated how pCT provides good diagnostic accuracy in the identification of acute ischaemic lesions. The limits of identification of the lesions mainly lie at the pons level and in the basal ganglia area. Qualitative analysis has proven to be more efficient in identification of perfusion lesions in comparison with software-generated maps. However, software-generated maps have proven to be very useful in the emergency setting. Advances in knowledge: The use of CT perfusion is requested in increasingly more patients in order to optimize the treatment, thanks also to the technological evolution of CT, which now allows a whole-brain study. The need for performing CT perfusion study also in the emergency setting could represent a problem for physicians who are not used to interpreting the parametric maps (CBV, MTT etc.). The software-generated maps could be of value in these settings, helping the less expert physician in the differentiation between different areas.


Asunto(s)
Mapeo Encefálico/métodos , Procesamiento de Imagen Asistido por Computador/métodos , Accidente Cerebrovascular/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Encéfalo/irrigación sanguínea , Encéfalo/diagnóstico por imagen , Circulación Cerebrovascular , Humanos , Reproducibilidad de los Resultados , Estudios Retrospectivos , Sensibilidad y Especificidad
9.
Neuropsychiatr Dis Treat ; 13: 109-116, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28115851

RESUMEN

PURPOSE: The aim of this study is to compare the Wechsler Intelligence Scale for Children® - fourth edition IV (WISC IV) intellectual profile of two groups of children with specific learning disorder, a group of bilingual children and a group of monolingual Italian children, in order to identify possible significant differences between them. PATIENTS AND METHODS: A group of 48 bilingual children and a group of 48 Italian monolingual children were included in this study. A preliminary comparison showed the homogeneity of the two groups regarding learning disorder typology and sociodemographic characteristics (age at WISC IV assessment, sex and years of education in Italy) with the exception of socioeconomic status. Socioeconomic status was then used as a covariate in the analysis. RESULTS: Even if the two groups were comparable in specific learning disorder severity and, in particular, in the text comprehension performance, our findings showed that the WISC IV performances of the bilingual group were significantly worse than the Italian group in Full Scale Intelligence Quotient (P=0.03), in General Ability Index (P=0.03), in Working Memory Index (P=0.009) and in some subtests and clusters requiring advanced linguistic abilities. CONCLUSION: These results support the hypothesis of a weakness in metalinguistic abilities in bilingual children with specific learning disorders than monolinguals. If confirmed, this result must be considered in the rehabilitation treatment.

10.
Adv Med Educ Pract ; 7: 553-558, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-27729823

RESUMEN

A mindful approach to education and training could improve students' reflective capacities and have positive effects on clinical practice because it facilitates a helping relationship. The main aims of this study were to investigate whether participation in a mindful-based University training was associated with increases in mindfulness skills as measured by the 5-Facet M Questionnaire, and to present the Italian validation of the questionnaire. Sixty-seven students from the course Neuro and Psychomotor Therapy were enrolled. They filled in the self-administered 5-Facet M Questionnaire before and 1 month after a mindfulness-based training, focused on role-playing and followed by a feedback group discussion. The Italian version of the 5-Facet M Questionnaire had good psychometric properties. The pre- and post-training analysis showed a significant increase in the subscale 'Observing'. Findings suggest that role-playing and feedback group sessions are valid tools to improve students' mindfulness skills.

11.
Minerva Pediatr ; 68(1): 11-8, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-26864719

RESUMEN

BACKGROUND: Idiopathic central precocious (PP) and early puberty (EP) are frequently associated with psychopathological problems. The aim of this study was to evaluate the quality of body experiences and psychological aspects in girls with PP and EP, as well as the impact of these conditions on their families and the subjects' vulnerability. METHODS: Subjects with PP or EP, aged 7-15 years, were evaluated through the administration of a self-report questionnaire (Children's Depression Inventory, CDI), along with a projective test (Human Figure Drawing Test, HFDT). Their parents filled in a questionnaire about their child's behavior (Child Behavior Checklist 4-18, CBCL). RESULTS: Twenty-nine girls with PP or EP were compared to 55 age-matched healthy girls. The 13.8% of subjects with EP or PP presented depressive traits, and the 48.3% reported suicidal thoughts at the CDI (vs. CONTROLS: P<0.05). At the HFDT, a lower psychological maturity and a more negative self-image, that determine a vulnerability to psychopathology and mental suffering, were observed in those subjects with a past EP or PP, who entered in adolescence. CONCLUSION: EP and PP are complex conditions, which combine somatic symptoms with negative psychological sequelae, including an increased risk for depression and a distorted body perception. The use of projective tests for the assessment of body perception might help the clinician come to a deeper understanding of the therapeutic needs of girls with PP or EP.


Asunto(s)
Depresión/epidemiología , Pubertad Precoz/psicología , Autoimagen , Ideación Suicida , Adolescente , Estudios de Casos y Controles , Niño , Conducta Infantil , Femenino , Humanos , Escalas de Valoración Psiquiátrica , Encuestas y Cuestionarios
12.
Neuropsychobiology ; 71(3): 154-7, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25998413

RESUMEN

BACKGROUND: Reduced plasma leptin and elevated homocysteine (Hcy) are known to lead to increased ß-amyloid (Aß) production, besides being hallmarks of anorexia nervosa (AN) of the restrictive type. AN subjects display several neuropsychiatric manifestations, which may entail Aß-mediated altered synaptic functions. The aim of this study consisted in assessing Aß plasma levels in AN patients. METHODS: A total of 24 adolescent female AN outpatients were recruited together with 12 age-comparable healthy controls. For each subject we assessed Aß40 and leptin plasma levels, as well as APOE genotype. Hcy plasma levels were also determined in AN patients who underwent clinical characterization, including the Eating Disorder Inventory-3 (EDI-3), the Children's Depression Inventory (CDI) and the estimation of the speed of BMI loss (DPI, disease progression index). RESULTS: Plasma Aß40 levels were similar between patients and controls, while a marked reduction was observed for leptin (∼80%) in AN patients. Aß40 plasma levels failed to correlate with leptin, while a linear correlation was present with Hcy (r = 0.50, p < 0.03). Examined clinical features were not related with Aß40 plasma levels, with the only exception of the DPI (r = 0.47, p < 0.03). CONCLUSION: This exploratory study does not support a significant role for altered Aß production in AN-associated dysfunctions. Further studies are required to clarify whether exceptions to this conclusion can be drawn for those patients expressing significantly elevated Hcy plasma levels or for those progressing more rapidly.


Asunto(s)
Péptidos beta-Amiloides/sangre , Anorexia Nerviosa/sangre , Fragmentos de Péptidos/sangre , Adolescente , Anorexia Nerviosa/genética , Apolipoproteínas E/genética , Distribución de Chi-Cuadrado , Niño , Femenino , Homocisteína/sangre , Humanos , Leptina/sangre , Modelos Lineales , Pacientes Ambulatorios , Escalas de Valoración Psiquiátrica , Adulto Joven
13.
Neuropsychiatr Dis Treat ; 11: 637-45, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25834442

RESUMEN

The recent literature on anorexia nervosa (AN) suggests that functional and structural abnormalities of cortico-limbic areas might play a role in the evolution of the disease. We explored global and regional brain volumes in a cross-sectional and follow-up study on adolescents affected by AN. Eleven adolescents with AN underwent a voxel-based morphometry study at time of diagnosis and immediately after weight recovery. Data were compared to volumes carried out in eight healthy, age and sex matched controls. Subjects with AN showed increased cerebrospinal fluid volumes and decreased white and gray matter volumes, when compared to controls. Moreover, significant regional gray matter decrease in insular cortex and cerebellum was found at time of diagnosis. No regional white matter decrease was found between samples and controls. Correlations between psychological evaluation and insular volumes were explored. After weight recovery gray matter volumes normalized while reduced global white matter volumes persisted.

14.
Int J Eat Disord ; 48(3): 317-22, 2015 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-25446249

RESUMEN

OBJECTIVE: Anorexia nervosa (AN) is a complex disorder involving severe psychological manifestations and multiple organ damage, including liver dysfunction. The primary aim of this study consisted in assessing plasma levels of vitamin B12 and folates with respect to liver function enzymes considering the liver-storage properties of this vitamin. METHOD: We recruited 70 restrictive type AN adolescents and the severity of psychopathological traits was assessed using EDI-3 scale. Plasma levels of vitamin B12 , folates, transaminases (AST, ALT), gamma-glutamyl transpeptidase (GGT), alkaline phosphatase (ALP) and cholinesterase (CHE) were determined. RESULTS: About 38.5% of patients displayed vitamin B12 values (H-B12) above the upper range of normal reference; 4.3% of patients had increased values of folates; 20 and 11.4% of patients displayed ALT and AST values above reference limits; none had GGT values above normal range. Albeit low CHE and ALP values were found in 55 and 20% of patients, respectively, a linear correlation with both transaminases was present only for vitamin B12 and folates; furthermore, H-B12 patients had both higher AST and ALT values. EDI- 3 subscores significantly correlated with vitamin B12 and folates plasma values and H-B12 patients displayed EDI-3 higher values. DISCUSSION: These data suggest that plasma levels of vitamin B12 might be an early marker of liver dysfunction, possibly also related to more severe psychopathological aspects. The identification of patients with higher fasting plasma vitamin B12 levels could therefore lead to earlier and more careful refeeding interventions. Further studies will clarify the potential role of this vitamin in AN clinical practice.


Asunto(s)
Anorexia Nerviosa/sangre , Ácido Fólico/metabolismo , Vitamina B 12/metabolismo , Adolescente , Anorexia Nerviosa/fisiopatología , Biomarcadores/metabolismo , Niño , Esterasas/metabolismo , Femenino , Humanos , Hígado/enzimología , Hepatopatías/diagnóstico , Hepatopatías/fisiopatología , Pruebas de Función Hepática , Masculino , Transferasas/metabolismo
15.
Eur Eat Disord Rev ; 22(6): 479-86, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25267565

RESUMEN

OBJECTIVE: The aim of the study is to investigate deficits in autobiographical memory in adolescents with anorexia nervosa (AN). METHODS: Sixty female individuals with AN and 60 healthy volunteers with an age range of 11-18 years were enrolled. The Autobiographical Memory Test (AMT), the Eating Disorder Inventory-3, the Toronto Alexithymia Scale-20 for the evaluation of alexithymia and Children's Depression Inventory to evaluate depressive traits were administered. In addition to classical AMT words, we proposed seven experimental cues, chosen from words often used by individuals with eating disorders in daily life. RESULTS: Girls with AN showed a massive overgeneral memory effect. This effect was not related to the presence of depression or alexithymia but increased with the duration of the disorder rather than with its severity. DISCUSSION: The alteration of autobiographical memory manifests in adolescence. Girls with AN showed a dysregulation of both negative and positive emotional experiences that seemed to be influenced by the disease duration.


Asunto(s)
Conducta del Adolescente/psicología , Síntomas Afectivos/psicología , Anorexia Nerviosa/psicología , Depresión/psicología , Trastorno Depresivo/psicología , Memoria Episódica , Adolescente , Síntomas Afectivos/diagnóstico , Estudios de Casos y Controles , Niño , Señales (Psicología) , Depresión/diagnóstico , Trastorno Depresivo/diagnóstico , Emociones , Femenino , Generalización Psicológica , Humanos , Entrevistas como Asunto , Masculino , Inventario de Personalidad , Escalas de Valoración Psiquiátrica , Índice de Severidad de la Enfermedad , Factores Socioeconómicos
16.
BMC Res Notes ; 7: 248, 2014 Apr 17.
Artículo en Inglés | MEDLINE | ID: mdl-24742288

RESUMEN

BACKGROUND: Interstitial deletions of chromosome 11 long arm are rarely observed and the associated phenotype ranges from normal to severe, depending on the position and size of the deletion and on the presence of unmasked recessive genes on the normal homologous. To our knowledge 32 cases are reported in literature with three family cases. Phenotype-genotype correlation is not very clear and the most common features are characteristic facial dysmorphisms, palate anomalies and developmental delay. Growth retardation is not typical and other major malformations are reported in some cases. CASE PRESENTATION: We described a child with 11q interstitial deletion diagnosed at birth with hypotonia and minor dysmorphisms using standard cytogenetic techniques; array CGH was subsequently performed to define the deletion at a molecular level. CONCLUSIONS: This case gave us the opportunity to attempt a genotype-phenotype correlation reviewing the literature and to describe a rehabilitative program that improved the development perspectives of this child.


Asunto(s)
Síndrome de Deleción Distal 11q de Jacobsen/genética , Síndrome de Deleción Distal 11q de Jacobsen/psicología , Pruebas Neuropsicológicas , Adolescente , Niño , Preescolar , Hibridación Genómica Comparativa , Análisis Citogenético , Estudios de Seguimiento , Genoma Humano , Humanos , Lactante , Recién Nacido , Masculino
17.
Neuropsychobiology ; 69(1): 19-24, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24401326

RESUMEN

BACKGROUND: Borderline personality disorder (BPD) patients display a complex and heterogeneous clinical phenotype that plausibly implies variable underlying pathogenic mechanisms. A dysregulation of peripheral benzodiazepine receptors has previously been shown in BPD peripheral tissues, implying possible alterations of its ligand, the diazepam binding inhibitor (DBI) or of the downstream products of its activation, i.e. neuroactive steroids. METHODS: The aim of this work consisted in assessing, by ELISA, fasting plasma levels of DBI and dehydroepiandrosterone sulphate (DHEA-S), including cortisol and the cortisol-to-DHEA-S molar ratio (CDR), in 17 BPD adolescents versus 13 healthy controls, testing the possibility that clinical scales related to depressive or anxious traits (CDI, STAI-Y) or to disease severity (BPDCL) might be associated with a selective dysregulation of these parameters. RESULTS: DBI plasma levels were unchanged, while DHEA-S ones were significantly increased (approx. 70%) and the CDR decreased in BPD patients. No meaningful correlations with clinical variables emerged. CONCLUSION: Our results indicate that a dysfunction of the neurosteroid system might be operative in BPD in spite of unchanged DBI plasma levels and that DHEA-S might represent a generalized trait marker for the altered stress response that is associated with this disorder.


Asunto(s)
Conducta del Adolescente/psicología , Trastorno de Personalidad Limítrofe/sangre , Sulfato de Deshidroepiandrosterona/sangre , Inhibidor de la Unión a Diazepam/sangre , Adolescente , Estudios de Casos y Controles , Femenino , Humanos , Hidrocortisona/sangre , Masculino , Escalas de Valoración Psiquiátrica
18.
Eat Weight Disord ; 19(1): 41-8, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-23912931

RESUMEN

BACKGROUND: Functional hypothalamic amenorrhea (FHA) is a form of anovulation, due to the suppression of hypothalamic-pituitary-ovarian axis, not related to identifiable organic causes. Like adolescents with anorexia nervosa (AN), subjects with FHA show dysfunctional attitudes, low self-esteem, depressive mood, anxiety and inability to cope with daily stress. The aim of the study is to examine similarities and differences between FHA and AN in terms of clinical profiles and psychological variables. METHODS: 21 adolescents with FHA, 21 adolescents with anorexia nervosa, and 21 healthy adolescents were included in the study. All the teenagers completed a battery of self-administered psychological tests for the detection of behaviors and symptoms attributable to the presence of an eating disorder (EDI-2), depression (CDI), and alexithymia (TAS-20). RESULTS: Different from healthy controls, subjects with FHA and with AN shared common psychopathological aspects, such as maturity issues, social insecurity and introversion, a tendency to depression, excessive concerns with dieting, and fear of gaining weight. Nevertheless, adolescents with AN presented a more profound psychopathological disorder as observed at test comparisons with subjects with FHA. CONCLUSIONS: Results show a clinical spectrum that includes AN and FHA and suggest the necessity to treat FHA with a multidisciplinary approach for both organic and psychological aspects.


Asunto(s)
Amenorrea/psicología , Anorexia Nerviosa/psicología , Enfermedades Hipotalámicas/psicología , Adolescente , Amenorrea/etiología , Estudios de Casos y Controles , Depresión/psicología , Femenino , Humanos , Enfermedades Hipotalámicas/complicaciones , Escalas de Valoración Psiquiátrica , Psicopatología
19.
Psychiatry Res ; 215(2): 406-9, 2014 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-24359810

RESUMEN

Aim of this study consisted in assessing the 24-h heart rate variability (HRV), a measure of autonomic nervous system (ANS) imbalance, in 21 adolescents with functional hypothalamic amenorrhea (FHA, 11 normogonadotropic, N-FHA, and 10 hypogonadotropic, Hy-FHA) compared to 21 patients with anorexia nervosa (AN) and 21 controls. As expected, subjects with AN showed a significant dysregulation in multiple HRV parameters, while Hy-FHA patients presented with a dysregulation in a few domains (SDNN, HFr), which was not present in girls with N-FHA, who showed values largely similar to controls. FHA might represent part of the AN biological spectrum, and a link between these two conditions might exist, possibly related to the degree of psychological and/or hormonal dysfunction.


Asunto(s)
Amenorrea/fisiopatología , Anorexia Nerviosa/fisiopatología , Sistema Nervioso Autónomo/fisiopatología , Frecuencia Cardíaca/fisiología , Enfermedades Hipotalámicas/fisiopatología , Adolescente , Femenino , Humanos
20.
Dev Neuropsychol ; 38(6): 418-32, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23971493

RESUMEN

The main goal of the present study was to shed further light on the weaknesses of children with different profiles of mathematical difficulties, testing children with nonverbal learning disability (NLD), co-morbid dyscalculia and dyslexia (D&D), or typical development (TD). Sixteen children with NLD, 15 with D&D, and 16 with TD completed tasks derived from Butterworth (2003 ) and divided into: a capacity subscale (i.e., a number-dots comparison task, a number comparison task, and a dots comparison task); and an achievement subscale (i.e., mental calculations and arithmetical fact retrieval). Children with NLD were impaired in the dots comparison task, children with D&D in the mental calculation and arithmetical facts.


Asunto(s)
Comorbilidad , Discalculia , Dislexia , Conceptos Matemáticos , Solución de Problemas/fisiología , Logro , Análisis de Varianza , Niño , Discapacidades del Desarrollo , Femenino , Humanos , Masculino , Memoria a Corto Plazo , Pruebas Neuropsicológicas/estadística & datos numéricos , Desempeño Psicomotor , Análisis y Desempeño de Tareas
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