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1.
BMC Pediatr ; 21(1): 231, 2021 05 13.
Artículo en Inglés | MEDLINE | ID: mdl-33985448

RESUMEN

BACKGROUND: The COVID-19 outbreak has resulted in governments implementing disease containment measures such as school closures, social distancing, and home quarantine. To date, only a few studies have drawn attention to the psychological impact of lockdown on Italian children's mental health. The present study aimed to investigate the psychological distress (anxiety and mood symptoms) and perceived changes in routine among Italian primary and middle school students during the COVID-19 quarantine. METHODS: This interview study was performed between the 18th of May and 7th of June 2020: it involved a sample of 82 children and adolescents living in Milan (Italy), attending primary and middle school (aged 6 to 14 years), and their parents. RESULTS: Almost 30 % of the subjects reported having struggled to adjust to home learning. 36 responders completely changed their dietary habits during the lockdown: they were not eating the same amount of food and were consuming more junk food. Sleep habits were also affected by the lockdown measures: 28 % of the sample had difficulties sleeping and wished to sleep in their parents' bed. Concerning psychological distress, 64 (78 %) children and adolescents had anxiety symptoms; 43.9 % of the students reported significant mood symptoms. CONCLUSIONS: Children are not indifferent to the dramatic impact of the COVID-19 epidemic: our data confirm their difficulties in adapting to the quarantine measures. The effects of stress exposure may not manifest later on during the children's development, and, for this reason, it would be interesting to follow up on these participants to improve our understanding of how long these outcomes may last.


Asunto(s)
COVID-19 , Distrés Psicológico , Adolescente , Niño , Control de Enfermedades Transmisibles , Humanos , Italia/epidemiología , Cuarentena , SARS-CoV-2 , Encuestas y Cuestionarios
2.
Am J Hum Genet ; 100(6): 969-977, 2017 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-28575651

RESUMEN

Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders that are classified either as pure spastic ataxia or as complex spastic ataxia with additional neurological signs. Inheritance is either autosomal dominant or autosomal recessive. Hypomyelinating features on MRI are sometimes seen with spastic ataxia, but this is usually mild in adults and severe and life limiting in children. We report seven individuals with an early-onset spastic-ataxia phenotype. The individuals come from three families of different ethnic backgrounds. Affected members of two families had childhood onset disease with very slow progression. They are still alive in their 30s and 40s and show predominant ataxia and cerebellar atrophy features on imaging. Affected members of the third family had a similar but earlier-onset presentation associated with brain hypomyelination. Using a combination of homozygozity mapping and exome sequencing, we mapped this phenotype to deleterious nonsense or homeobox domain missense mutations in NKX6-2. NKX6-2 encodes a transcriptional repressor with early high general and late focused CNS expression. Deficiency of its mouse ortholog results in widespread hypomyelination in the brain and optic nerve, as well as in poor motor coordination in a pattern consistent with the observed human phenotype. In-silico analysis of human brain expression and network data provides evidence that NKX6-2 is involved in oligodendrocyte maturation and might act within the same pathways of genes already associated with central hypomyelination. Our results support a non-redundant developmental role of NKX6-2 in humans and imply that NKX6-2 mutations should be considered in the differential diagnosis of spastic ataxia and hypomyelination.


Asunto(s)
Sistemas de Transporte de Aminoácidos Acídicos/deficiencia , Antiportadores/deficiencia , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/complicaciones , Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias/genética , Proteínas de Homeodominio/genética , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/genética , Enfermedades Mitocondriales/complicaciones , Enfermedades Mitocondriales/genética , Espasticidad Muscular/complicaciones , Espasticidad Muscular/genética , Mutación/genética , Atrofia Óptica/complicaciones , Atrofia Óptica/genética , Trastornos Psicomotores/complicaciones , Trastornos Psicomotores/genética , Ataxias Espinocerebelosas/complicaciones , Ataxias Espinocerebelosas/genética , Adulto , Secuencia de Aminoácidos , Sistemas de Transporte de Aminoácidos Acídicos/genética , Antiportadores/genética , Encéfalo/embriología , Encéfalo/metabolismo , Niño , Femenino , Redes Reguladoras de Genes , Proteínas de Homeodominio/química , Humanos , Lactante , Masculino , Linaje , Fenotipo , Adulto Joven
3.
Ann Neurol ; 86(2): 225-240, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-31187503

RESUMEN

OBJECTIVE: To identify disease-causing variants in autosomal recessive axonal polyneuropathy with optic atrophy and provide targeted replacement therapy. METHODS: We performed genome-wide sequencing, homozygosity mapping, and segregation analysis for novel disease-causing gene discovery. We used circular dichroism to show secondary structure changes and isothermal titration calorimetry to investigate the impact of variants on adenosine triphosphate (ATP) binding. Pathogenicity was further supported by enzymatic assays and mass spectroscopy on recombinant protein, patient-derived fibroblasts, plasma, and erythrocytes. Response to supplementation was measured with clinical validated rating scales, electrophysiology, and biochemical quantification. RESULTS: We identified biallelic mutations in PDXK in 5 individuals from 2 unrelated families with primary axonal polyneuropathy and optic atrophy. The natural history of this disorder suggests that untreated, affected individuals become wheelchair-bound and blind. We identified conformational rearrangement in the mutant enzyme around the ATP-binding pocket. Low PDXK ATP binding resulted in decreased erythrocyte PDXK activity and low pyridoxal 5'-phosphate (PLP) concentrations. We rescued the clinical and biochemical profile with PLP supplementation in 1 family, improvement in power, pain, and fatigue contributing to patients regaining their ability to walk independently during the first year of PLP normalization. INTERPRETATION: We show that mutations in PDXK cause autosomal recessive axonal peripheral polyneuropathy leading to disease via reduced PDXK enzymatic activity and low PLP. We show that the biochemical profile can be rescued with PLP supplementation associated with clinical improvement. As B6 is a cofactor in diverse essential biological pathways, our findings may have direct implications for neuropathies of unknown etiology characterized by reduced PLP levels. ANN NEUROL 2019;86:225-240.


Asunto(s)
Mutación/genética , Polineuropatías/tratamiento farmacológico , Polineuropatías/genética , Piridoxal Quinasa/genética , Fosfato de Piridoxal/administración & dosificación , Complejo Vitamínico B/administración & dosificación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Suplementos Dietéticos , Femenino , Redes Reguladoras de Genes/genética , Humanos , Masculino , Resultado del Tratamiento
4.
Psychol Med ; 47(15): 2613-2627, 2017 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-28826419

RESUMEN

BACKGROUND: Diffusion tensor imaging (DTI) studies have consistently shown white matter (WM) microstructural abnormalities in schizophrenia. Whether or not such alterations could vary depending on clinical status (i.e. acute psychosis v. remission) remains to be investigated. METHODS: Twenty-five treatment-naïve first-episode psychosis (FEP) patients and 51 healthy-controls (HC) underwent MRI scanning at baseline. Twenty-one patients were re-scanned as soon as they achieved sustained remission of symptoms; 36 HC were also scanned twice. Rate-of-change maps of longitudinal DTI changes were calculated for in order to examine WM alterations associated with changes in clinical status. We conducted voxelwise analyses of fractional anisotropy (FA) and trace (TR) maps. RESULTS: At baseline, FEP presented reductions of FA in comparison with HC [p < 0.05, false-discovery rate (FDR)-corrected] affecting fronto-limbic WM and associative, projective and commissural fasciculi. After symptom remission, patients showed FA increase over time (p < 0.001, uncorrected) in some of the above WM tracts, namely the right anterior thalamic radiation, right uncinate fasciculus/inferior fronto-occipital fasciculus, and left inferior fronto-occipital fasciculus/inferior longitudinal fasciculus. We also found significant correlations between reductions in PANSS scores and FA increases over time (p < 0.05, FDR-corrected). CONCLUSIONS: WM changes affecting brain tracts critical to the integration of perceptual information, cognition and emotions are detectable soon after the onset of FEP and may partially reverse in direct relation to the remission of acute psychotic symptoms. Our findings reinforce the view that WM abnormalities in brain tracts are a key neurobiological feature of acute psychotic disorders, and recovery from such WM pathology can lead to amelioration of symptoms.


Asunto(s)
Imagen de Difusión Tensora/métodos , Progresión de la Enfermedad , Trastornos Psicóticos/patología , Trastornos Psicóticos/fisiopatología , Sustancia Blanca/patología , Adolescente , Adulto , Estudios de Casos y Controles , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Trastornos Psicóticos/diagnóstico por imagen , Trastornos Psicóticos/terapia , Inducción de Remisión , Sustancia Blanca/diagnóstico por imagen , Adulto Joven
5.
Acta Psychiatr Scand ; 136(6): 623-636, 2017 12.
Artículo en Inglés | MEDLINE | ID: mdl-29080396

RESUMEN

OBJECTIVE: In adulthood, the diagnosis of attention-deficit/hyperactivity disorder (ADHD) has been subject of recent controversy. We searched for a neuroanatomical signature associated with ADHD spectrum symptoms in adults by applying, for the first time, machine learning-based pattern classification methods to structural MRI and diffusion tensor imaging (DTI) data obtained from stimulant-naïve adults with childhood-onset ADHD and healthy controls (HC). METHOD: Sixty-seven ADHD patients and 66 HC underwent high-resolution T1-weighted and DTI acquisitions. A support vector machine (SVM) classifier with a non-linear kernel was applied on multimodal image features extracted on regions of interest placed across the whole brain. RESULTS: The discrimination between a mixed-gender ADHD subgroup and individually matched HC (n = 58 each) yielded area-under-the-curve (AUC) and diagnostic accuracy (DA) values of up to 0.71% and 66% (P = 0.003) respectively. AUC and DA values increased to 0.74% and 74% (P = 0.0001) when analyses were restricted to males (52 ADHD vs. 44 HC). CONCLUSION: Although not at the level of clinically definitive DA, the neuroanatomical signature identified herein may provide additional, objective information that could influence treatment decisions in adults with ADHD spectrum symptoms.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Trastorno por Déficit de Atención con Hiperactividad/fisiopatología , Encéfalo/diagnóstico por imagen , Encéfalo/fisiopatología , Imagen por Resonancia Magnética/métodos , Máquina de Vectores de Soporte , Adulto , Imagen de Difusión Tensora/métodos , Femenino , Humanos , Masculino , Neurobiología
6.
Biol Reprod ; 94(3): 57, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26792943

RESUMEN

Acrosomal exocytosis in mammalian sperm is a regulated secretion with unusual characteristics. One of its most striking features is the postfusion loss of the outer acrosomal membrane and the overlying plasma membrane as hybrid vesicles. We have previously reported in human sperm that, by preventing the release of calcium from the acrosome, the exocytic process can be arrested at a stage where the acrosomes are profusely swollen, with invaginations of the outer acrosomal membrane. In this report, we show by transmission electron microcopy swelling with similar characteristics without arresting the exocytic process. Acrosomal swelling was observed when secretion was promoted by pharmacological and physiological inducers of the acrosome reaction that trigger exocytosis by different mechanisms. We show that progesterone- and thapsigargin-induced swelling depended on a calcium influx from the extracellular medium through store-operated calcium channels. However, calcium was dispensable when sperm were stimulated with cAMP analogs. KH7, an inhibitor of the soluble adenylyl cyclase, blocked progesterone-induced swelling. Our results indicate that swelling is a required process for acrosomal exocytosis triggered by activation of an adenylyl cyclase downstream of the opening of store-operated calcium channels.


Asunto(s)
Reacción Acrosómica/fisiología , Canales de Calcio/metabolismo , AMP Cíclico/metabolismo , Transducción de Señal/fisiología , Espermatozoides/fisiología , Adulto , Calcimicina/farmacología , Humanos , Masculino , Progesterona/fisiología , Espermatozoides/efectos de los fármacos
7.
Acta Psychiatr Scand ; 133(3): 214-20, 2016 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-26513535

RESUMEN

OBJECTIVE: The objective of this study was to evaluate brain lithium levels using (7) Li magnetic resonance spectroscopy after 6 weeks of lithium therapy in bipolar depression to test the hypothesis that brain and plasma lithium are correlated. It was also tested whether responders and remitters have different pharmacokinetics, blood and brain lithium levels (ratio) compared with those presenting suboptimal antidepressant improvement. METHOD: Twenty-three patients with bipolar disorder (I and II) during depressive episodes were included and followed up for 6 weeks at the University of Sao Paulo using flexible dose of lithium (450-900 mg/day). Sixteen patients were drug-naïve. At endpoint, patients underwent a (7) Li-MRS scan and brain lithium concentrations were calculated. RESULTS: A significant association between central and peripheral lithium levels was found only in remitters (r = 0.7, P = 0.004) but not in non-remitters (r = -0.12, P = 0.76). Also, brain lithium (but not plasma) was inversely correlated with age (r = -0.46, P = 0.025). Plasma lithium did not correlate with any clinical outcome, lithium dosage or adverse effects. CONCLUSION: These findings suggest that non-remitters may not transport lithium properly to the brain, which may underlie treatment resistance to lithium in BD. Future studies with (7) Li-MRS integrated with the evaluation of blood-brain barrier transport mechanisms and longitudinal clinical outcomes in BD and aging are warranted.


Asunto(s)
Antimaníacos/farmacocinética , Trastorno Bipolar/metabolismo , Encéfalo/metabolismo , Depresión/metabolismo , Compuestos de Litio/farmacocinética , Adulto , Antimaníacos/uso terapéutico , Trastorno Bipolar/sangre , Trastorno Bipolar/tratamiento farmacológico , Barrera Hematoencefálica/metabolismo , Encéfalo/efectos de los fármacos , Depresión/sangre , Depresión/tratamiento farmacológico , Femenino , Humanos , Compuestos de Litio/uso terapéutico , Espectroscopía de Resonancia Magnética/métodos , Masculino
8.
Child Psychiatry Hum Dev ; 47(1): 133-50, 2016 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25976291

RESUMEN

Anxiety in situations where one's overall appearance (including body shape) may be negatively evaluated is hypothesized to play a central role in Eating Disorders (EDs) and in their co-occurrence with Social Anxiety Disorder (SAD). Three studies were conducted among community (N = 1995) and clinical (N = 703) ED samples of 11- to 18-year-old Italian girls and boys to (a) evaluate the psychometric qualities and measurement equivalence/invariance (ME/I) of the Social Appearance Anxiety (SAA) Scale (SAAS) and (b) determine to what extent SAA or other situational domains of social anxiety related to EDs distinguish adolescents with an ED only from those with SAD. Results upheld the one-factor structure and ME/I of the SAAS across samples, gender, age categories, and diagnostic status (i.e., ED participants with and without comorbid SAD). The SAAS demonstrated high internal consistency and 3-week test-retest reliability. The strength of the inter-relationships between SAAS and measures of body image, teasing about appearance, ED symptoms, depression, social anxiety, avoidance, and distress, as well as the ability of SAAS to discriminate community adolescents with high and low levels of ED symptoms and community participants from ED participants provided construct validity evidence. Only SAA strongly differentiated adolescents with any ED from those with comorbid SAD (23.2 %). Latent mean comparisons across all study groups were performed and discussed.


Asunto(s)
Anorexia Nerviosa/diagnóstico , Anorexia Nerviosa/psicología , Trastorno Dismórfico Corporal/diagnóstico , Trastorno Dismórfico Corporal/psicología , Bulimia Nerviosa/diagnóstico , Bulimia Nerviosa/psicología , Comparación Transcultural , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Trastornos Fóbicos/diagnóstico , Trastornos Fóbicos/psicología , Psicometría/estadística & datos numéricos , Autoimagen , Encuestas y Cuestionarios , Adolescente , Comorbilidad , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Psicometría/métodos , Reproducibilidad de los Resultados
9.
Mol Hum Reprod ; 21(3): 244-54, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25452326

RESUMEN

The acrosome reaction is a unique event in the lifespan of sperm characterized by the exocytosis of the acrosomal content and the release of hybrid vesicles formed by patches of the outer acrosomal membrane and the plasma membrane. This unique regulated exocytosis is mediated by essentially the same membrane fusion machinery present in neuroendocrine cells. However, whereas secretion in neuroendocrine cells occurs in less than a second, the acrosome reaction is normally assessed after several minutes of incubation with inducers. In this report, we measured the kinetics of human sperm exocytosis triggered by two stimuli (calcium ionophore and progesterone) by using electron microscopy and three different approaches based on the incorporation of fluorescent Pisum sativum agglutinin into the acrosome upon opening of fusion pores connecting the extracellular medium with the acrosomal lumen. The results with the different methods are consistent with a slow kinetics (t½ = 14 min). We also manipulated the system to measure different steps of the process. We observed that cytosolic calcium increased with a relatively fast kinetics (t½ = 0.1 min). In contrast, the swelling of the acrosomal granule that precedes exocytosis was a slow process (t½ = 13 min). When swelling was completed, the fusion pore opening was fast (t½ = 0.2 min). The results indicate that acrosomal swelling is the slowest step and it determines the kinetics of the acrosome reaction. After the swelling is completed, the efflux of calcium from intracellular stores triggers fusion pores opening and the release of hybrid vesicles in seconds.


Asunto(s)
Reacción Acrosómica/fisiología , Acrosoma/metabolismo , Membrana Celular/metabolismo , Exocitosis/fisiología , Acrosoma/efectos de los fármacos , Acrosoma/ultraestructura , Reacción Acrosómica/efectos de los fármacos , Adulto , Calcimicina/farmacología , Calcio/metabolismo , Ionóforos de Calcio/farmacología , Membrana Celular/efectos de los fármacos , Membrana Celular/ultraestructura , Gránulos Citoplasmáticos/efectos de los fármacos , Gránulos Citoplasmáticos/metabolismo , Gránulos Citoplasmáticos/ultraestructura , Exocitosis/efectos de los fármacos , Humanos , Transporte Iónico/efectos de los fármacos , Cinética , Masculino , Fusión de Membrana/efectos de los fármacos , Microscopía Electrónica , Lectinas de Plantas/farmacología , Progesterona/farmacología , Factores de Tiempo
10.
Psychol Med ; 45(4): 817-28, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25180801

RESUMEN

BACKGROUND: Magnetic resonance imaging (MRI) studies have shown that brain abnormalities in psychosis might be progressive during the first years of illness. We sought to determine whether first-episode psychosis (FEP) subjects show progressive regional grey matter (GM) changes compared with controls, and whether those changes are associated with diagnosis, illness course or antipsychotic (AP) use. METHOD: Thirty-two subjects with first-episode schizophrenia-spectrum disorders (FESZ), 24 patients with first-episode affective psychoses (FEAP) and 34 controls recruited using a population-based design underwent structural MRI scanning at baseline and at a 5-year follow-up. Regional GM volumes were assessed with voxel-based morphometry (VBM). Patients were treated at community settings, and about half of them remained mainly untreated. RESULTS: No significant progressive changes in GM regional volumes were observed in either the FESZ or FEAP group overall. However, FESZ subjects with a non-remitting course showed GM decrements in the left superior temporal gyrus (STG) and insula relative to remitted FESZ subjects. Non-remitted FEAP subjects exhibited a GM decrease in the dorsolateral prefrontal cortex (DLPFC) bilaterally in comparison to remitted FEAP subjects. Among FESZ subjects, AP use was associated with regional GM decrements in the right insula and increments in the cerebellum. CONCLUSIONS: Our results suggest that the progression of brain abnormalities in FEP subjects is restricted to those with a poor outcome and differs between diagnosis subgroups. AP intake is associated with a different pattern of GM reductions over time.


Asunto(s)
Trastornos Psicóticos Afectivos/patología , Corteza Cerebral/patología , Sustancia Gris/patología , Imagen por Resonancia Magnética/métodos , Esquizofrenia/patología , Adulto , Femenino , Estudios de Seguimiento , Humanos , Masculino
11.
Infection ; 43(1): 1-11, 2015 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-25110153

RESUMEN

INTRODUCTION: A growing body of evidence points out that a large amount of patients with sepsis are admitted and treated in medical ward (MW). With most of the sepsis studies conducted in intensive care unit (ICU), these patients, older and with more comorbidities have received poor attention. Provided the differences between the two groups of patients, results of diagnostic and therapeutic trials from ICU should not be routinely transferred to MW, where sepsis seems to be at least as common as in ICU. METHODS: We analyzed clinical trials on novel tools for an early diagnosis of sepsis published in the last two year adopting strict research criteria. Moreover we conducted a target review of the literature on non-invasive monitoring of severe sepsis and septic shock. RESULTS AND CONCLUSIONS: The combination of innovative and non-invasive tools for sepsis rule in/out, as quick alternatives to blood cultures (gold standard) with bedside integrated ultrasonography could impact triage, diagnosis and prognosis of septic patients managed in MW, preventing ICU admissions, poor outcomes and costly complications, especially in elderly that are usually highly vulnerable to invasive procedures.


Asunto(s)
Sepsis , Anciano , Biomarcadores , Comorbilidad , Unidades Hospitalarias , Humanos , Unidades de Cuidados Intensivos , Persona de Mediana Edad
12.
J Psychol ; 149(1-2): 85-112, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-25495164

RESUMEN

Although body dissatisfaction is recognized as the strongest risk factor for eating disturbances, a majority of young males are body dissatisfied, but do not concomitantly report severe levels of eating disorder symptomatology. The present investigation was designed to examine five theoretically relevant variables (i.e., body checking, emotional dysregulation, perfectionism, insecure-anxious attachment, and self-esteem) as potential moderators of the relationship between body dissatisfaction and two critical components of male eating disorder symptomatology: drive for muscularity and bulimic behaviors. Data collected from 551 Italian males between 18 and 28 years old were analyzed using latent structural equation modeling. The authors found that emotional dysregulation, body checking, insecure-anxious attachment and perfectionism intensified the relationship between body dissatisfaction and each criterion variable representing male eating disorder symptomatology; the interactions accounted respectively for an additional 2%, 7%, 4% and 5% of variance in drive for muscularity and for an additional 6%, 4%, 5%, and 2% of the variance in bulimic behaviors. By contrast self-esteem weakened this relationship and the interactions accounted for an additional 3% of the variance in both drive for muscularity and bulimic behaviors. Implications of these findings for prevention and treatment of male eating disturbances are discussed.


Asunto(s)
Composición Corporal , Imagen Corporal/psicología , Bulimia/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Adolescente , Adulto , Humanos , Italia , Masculino , Adulto Joven
13.
Appetite ; 82: 180-93, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25058649

RESUMEN

Stice's (1994, 2001) dual pathway model proposed a mediational sequence that links body dissatisfaction to lack of control over eating through dieting and negative affect. Van Strien et al. (2005) extended the negative affect pathway of the original dual pathway model by adding two additional intervening variables: interoceptive deficits and emotional eating. The purpose of this study was to test and compare the original and extended model using prospective data. Both types of loss of control over eating (i.e., subjective and objective binge eating) were evaluated. Data collected from 361 adolescent girls, who were interviewed and completed self-report measures annually over a 2-year period, were analysed using structural equation modeling. Although both models provided a good fit to the data, the extended model fit the adolescent girls' sample data better and accounted for a greater proportion of variance in binge eating than the original model. All proposed mediational pathways of both models were supported and all indirect effects examined through bootstrap procedure were significant. Although our results confirmed the validity of both models and extended previous findings to an early- to middle adolescent group, the bi-directional relationship between dietary restriction and negative affect suggests that the association between these key risk factors for binge eating are more complex than outlined in both the original and extended dual-pathway models.


Asunto(s)
Ingestión de Alimentos/psicología , Hiperfagia/psicología , Adolescente , Índice de Masa Corporal , Restricción Calórica , Dieta Reductora , Emociones , Femenino , Humanos , Italia , Estudios Longitudinales , Modelos Biológicos , Modelos Psicológicos , Estudios Prospectivos , Factores Socioeconómicos , Encuestas y Cuestionarios
14.
Eat Disord ; 22(4): 292-305, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24678597

RESUMEN

In recent years research employing female samples has indicated that although body dissatisfaction may be necessary for the onset of an eating disorder, it is not sufficient. This study examined body surveillance and difficulties in interpersonal domains (attachment anxiety and social anxiety) as potential moderators of the body dissatisfaction-eating disorder symptomatology relationship amongst Italian college men (N = 359). As expected, all examined variables were found to intensify this relationship such that body dissatisfaction was strongly related to men's eating disorder symptomatology when each moderator was at its highest level (i.e., 1 SD above the mean). Practical implications are discussed.


Asunto(s)
Ansiedad/psicología , Trastorno Dismórfico Corporal/psicología , Trastornos de Alimentación y de la Ingestión de Alimentos/psicología , Relaciones Interpersonales , Hombres/psicología , Trastornos Fóbicos/psicología , Adolescente , Adulto , Humanos , Masculino , Satisfacción Personal , Análisis de Regresión , Autoinforme , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Adulto Joven
15.
Sci Total Environ ; 950: 175267, 2024 Nov 10.
Artículo en Inglés | MEDLINE | ID: mdl-39102949

RESUMEN

The red microalga Galdieria sulphuraria has emerged as a promising biotechnological platform for large-scale cultivation and production of high-value compounds, such as the blue pigment phycocyanin. However, a large amount of freshwater and a substantial supply of nutrients challenge both the environmental and the economic sustainability of algal cultivation. Additionally, the extremophilic nature of Galdieria sulphuraria requires cultivation in an acidic culture medium that directly leads to strongly acidic wastewater, which in turn generally exceeds legal limits for industrial wastewater discharge. This research aims to address these challenges, by investigating cultivation water reuse as a strategy to reduce the impacts of Galdieria sulphuraria management. The results indicated that a 25 % water reuse may be easily implemented and showed to be effective at the pilot scale, providing no significant changes in microalgae growth (biomass productivity ~0.21 g L-1 d-1) or in phycocyanin accumulation (~ 10.8 % w/w) after three consecutive cultivation cycles in reused water. Moreover, a single cultivation cycle with water reuse percentages of 71 and 98 %, achieved with membrane filtration and with centrifugation, respectively, was also successful (biomass productivity ~0.24 g L-1 d-1). These findings encourage freshwater reuse implementations in the microalgae sector and support further investigations focusing on coupling cultivation and harvesting in continuous, real-scale configurations. Centrifugation and membrane filtration required substantially different specific electrical energy consumption for water reuse and biomass concentration: in real applications, the former technique would roughly span from 1 to 10 kWh m-3 while the latter is expected to fall within the ample range 0.1-100 kWh m-3, strongly dependent on system size. For this reason, the most suitable separation train should be chosen on a case-by-case basis, considering the prevailing flow rate and the target biomass concentration factor targeted by the separation process.


Asunto(s)
Microalgas , Microalgas/crecimiento & desarrollo , Rhodophyta/crecimiento & desarrollo , Aguas Residuales , Eliminación de Residuos Líquidos/métodos , Biomasa
16.
Clin Nutr ; 43(8): 1815-1824, 2024 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-38970937

RESUMEN

BACKGROUND & AIMS: In view of the global demographic shift, a scientific symposium was organised by the European Society for Clinical Nutrition and Metabolism (ESPEN) to address nutrition-related challenges of the older population and provide an overview of the current state of knowledge. METHODS: Eighteen nutrition-related issues of the ageing global society were presented by international experts during the symposium and summarised in this report. RESULTS: Anorexia of ageing, dysphagia, malnutrition, frailty, sarcopenia, sarcopenic obesity, and the metabolic syndrome were highlighted as major nutrition-related geriatric syndromes. Great progress has been made in recent years through standardised definitions of some but not all syndromes. Regarding malnutrition, the GLIM approach has shown to be suitable also in older adults, justifying its continuous implementation. For anorexia of ageing, a consensus definition is still required. Intervention approaches should be integrated and person-centered with the aim of optimizing intrinsic capacity and maintaining functional capacity. Landmark studies like EFFORT and FINGER have impressively documented the potential of individualised and multifactorial interventions for functional and health benefits. Combining nutritional intervention with physical training seems particularly important whereas restrictive diets and drug treatment should generally be used with caution because of undesirable risks. Obesity management in older adults should take into account the risk of promoting sarcopenia. CONCLUSIONS: In the future, even more individualised approaches like precision nutrition may enable better nutritional care. Meanwhile all stakeholders should focus on a better implementation of currently available strategies and work closely together to improve nutritional care for older adults.


Asunto(s)
Desnutrición , Sarcopenia , Humanos , Anciano , Desnutrición/prevención & control , Desnutrición/terapia , Sarcopenia/terapia , Envejecimiento/fisiología , Estado Nutricional , Fragilidad , Obesidad , Anciano de 80 o más Años , Evaluación Geriátrica/métodos
17.
Nat Commun ; 15(1): 2269, 2024 Mar 13.
Artículo en Inglés | MEDLINE | ID: mdl-38480682

RESUMEN

Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. We show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro. In cells, loss of NAA60 caused reduced surface levels of SLC20A2 and a reduction in extracellular phosphate uptake. This study establishes NAA60 as a causal gene for PFBC, provides a possible biochemical explanation of its disease-causing mechanisms and underscores NAA60-mediated Nt-acetylation of transmembrane proteins as a fundamental process for healthy neurobiological functioning.


Asunto(s)
Encefalopatías , Humanos , Acetilación , Encéfalo/diagnóstico por imagen , Encéfalo/metabolismo , Encefalopatías/genética , Patrón de Herencia , Mutación , Fosfatos/metabolismo , Proteínas Cotransportadoras de Sodio-Fosfato de Tipo III/metabolismo
18.
J Biol Chem ; 287(52): 43825-39, 2012 Dec 21.
Artículo en Inglés | MEDLINE | ID: mdl-23091057

RESUMEN

The spermatozoon is a very specialized cell capable of carrying out a limited set of functions with high efficiency. Sperm are then excellent model cells to dissect fundamental processes such as regulated exocytosis. The secretion of the single dense-core granule of mammalian spermatozoa relies on the same highly conserved molecules and goes through the same stages as exocytosis in other types of cells. In this study, we describe the presence of Munc18-1 in human sperm and show that this protein has an essential role in acrosomal exocytosis. We observed that inactivation of endogenous Munc18-1 with a specific antibody precluded the stabilization of trans-SNARE complexes and inhibited acrosomal exocytosis. Addition of recombinant Munc18-1 blocked secretion by sequestering monomeric syntaxin, an effect that was rescued by α-soluble NSF attachment protein. By electron microscopy, we observed that both the anti-Munc18-1 antibody and recombinant Munc18-1 inhibited the docking of the acrosome to the plasma membrane. In conclusion, our results indicate that Munc18-1 plays a key role in the dynamics of trans-SNARE complex assembly and/or stabilization, a process that is necessary for the docking of the outer acrosomal membrane to the plasma membrane and subsequent fusion pore opening.


Asunto(s)
Acrosoma/metabolismo , Membrana Celular/metabolismo , Exocitosis/fisiología , Proteínas Munc18/metabolismo , Proteínas SNARE/metabolismo , Acrosoma/ultraestructura , Reacción Acrosómica/fisiología , Anticuerpos/química , Membrana Celular/genética , Humanos , Masculino , Proteínas Munc18/genética , Estabilidad Proteica , Proteínas SNARE/genética
19.
Exp Cell Res ; 318(5): 478-88, 2012 Mar 10.
Artículo en Inglés | MEDLINE | ID: mdl-22248876

RESUMEN

Exocytosis is a highly regulated, multistage process consisting of multiple functionally definable stages, including recruitment, targeting, tethering, priming, and docking of secretory vesicles with the plasma membrane, followed by calcium-triggered membrane fusion. The acrosome reaction of spermatozoa is a complex, calcium-dependent regulated exocytosis. Fusion at multiple sites between the outer acrosomal membrane and the cell membrane causes the release of the acrosomal contents and the loss of the membranes surrounding the acrosome. Not much is known about the molecules that mediate membrane docking in this particular fusion model. In neurons, the formation of the ternary RIM/Munc13/Rab3A complex has been suggested as a critical component of synaptic vesicles docking. Previously, we demonstrated that Rab3A localizes to the acrosomal region in human sperm, stimulates acrosomal exocytosis, and participates in an early stage during membrane fusion. Here, we report that RIM and Munc13 are also present in human sperm and localize to the acrosomal region. Like Rab3A, RIM and Munc13 participate in a prefusion step before the efflux of intra-acrosomal calcium. By means of a functional assay using antibodies and recombinant proteins, we show that RIM, Munc13 and Rab3A interplay during acrosomal exocytosis. Finally, we report by electron transmission microscopy that sequestering RIM and Rab3A alters the docking of the acrosomal membrane to the plasma membrane during calcium-activated acrosomal exocytosis. Our results suggest that the RIM/Munc13/Rab3 A complex participates in acrosomal exocytosis and that RIM and Rab3A have central roles in membrane docking.


Asunto(s)
Acrosoma/fisiología , Exocitosis , Proteínas de Unión al GTP/metabolismo , Proteínas del Tejido Nervioso/metabolismo , Proteínas de Unión al GTP rab3/metabolismo , Proteína de Unión al GTP rab3A/metabolismo , Acrosoma/metabolismo , Acrosoma/ultraestructura , Calcio/farmacología , Calcio/fisiología , Membrana Celular/metabolismo , Humanos , Masculino , Complejos Multiproteicos/metabolismo , Proteínas del Tejido Nervioso/genética , Permeabilidad , Unión Proteica
20.
Appetite ; 71: 187-95, 2013 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-23994503

RESUMEN

The purpose of this study was to examine the basic psychometric proprieties of the Dutch Eating Behavior Questionnaire (DEBQ) and its measurement invariance across sex, BMI-status (normal weight/overweight), and age in a community sample of 990 Italian adults. The analysis of the dimensionality of the DEBQ using exploratory factor analysis revealed the existence of three major factors - emotional, restrained and external eating. Single and multi-group confirmatory factor analyses replicated the three-factor structure, and this dimensional structure proved to be invariant across sex, BMI-status, and age. Findings upheld the criterion-related validity (e.g., via its associations with Eating Attitudes Test-26). The DEBQ's subscales displayed high internal consistency and test-retest reliability over a 4-week period. Statistically significant differences were found when sex, BMI and age groups are compared in the latent means of emotional, external and restrained eating and they are discussed with reference to theory, past and recent empirical findings. Overall, results support the measurement invariance of the DEBQ and suggest that the Italian version is a psychometrically reliable, valid and useful measurement instrument for assessing adult eating behaviors.


Asunto(s)
Etnicidad , Conducta Alimentaria/psicología , Psicometría/métodos , Encuestas y Cuestionarios , Adulto , Factores de Edad , Índice de Masa Corporal , Análisis Factorial , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Países Bajos , Sobrepeso/psicología , Reproducibilidad de los Resultados , Factores Sexuales , Adulto Joven
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