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2.
Compr Psychiatry ; 91: 34-38, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-31003723

RESUMEN

BACKGROUND: Autism spectrum is a psychopathological dimension which encompasses a wide range of clinical presentations: from subthreshold forms and autistic traits (AT), that can be found in the general population, to full-blown autism spectrum disorder (ASD). Many studies reported high rates of comorbidity between both ASD and AT and mood disorders, as well as a high prevalence of suicidal ideation among patients with ASD/AT. The aim of this study was to investigate the presence of mood symptoms and suicidal ideation and behaviors in patients with full-blown ASD and in subjects with AT, as well in a healthy control (HC) group, with a specific focus on which of the autistic features may be predictive of suicidal ideation and behaviors. METHODS: We recruited 262 adult subjects: 34 with ASD without intellectual impairment or language disability (ASD group), 68 fulfilling only one symptom criterion for ASD according to DSM-5 but who do not meet criteria for a full-blown diagnosis of ASD (AT group), and 160 HC. All subjects were assessed with the Structured Clinical Interview for DSM-5 (SCID-5); in addition, they were asked to fill two questionnaires: The Mood Spectrum, Self-report (MOODS-SR) and the Adult Autism Subthreshold Spectrum (AdAS Spectrum). RESULTS: ASD subjects reported significantly higher AdAS Spectrum and MOODS-SR total scores, as well as higher MOODS-SR depressive component total scores, when compared with AT and HC subjects. AT subjects scored significantly higher than the HC group. No significant differences were reported between ASD and AT subjects for the suicidality score according to MOODS-SR, despite both groups scored significantly higher than the HC group. The strongest predictor of suicidality score were MOODS-SR depressive component score and AdAS Spectrum Restricted interests and rumination domain score. CONCLUSIONS: Our results highlight a correlation between autism and mood spectrum, as well as between suicidality and both ASD and AT. Subthreshold forms of ASD should be accurately investigated due to their relationship with suicidal thoughts and behaviors.


Asunto(s)
Trastorno del Espectro Autista/epidemiología , Trastorno Autístico/epidemiología , Trastornos del Humor/epidemiología , Suicidio/estadística & datos numéricos , Adulto , Afecto , Trastorno del Espectro Autista/psicología , Trastorno Autístico/psicología , Comorbilidad , Manual Diagnóstico y Estadístico de los Trastornos Mentales , Femenino , Humanos , Masculino , Trastornos del Humor/psicología , Prevalencia , Autoinforme , Ideación Suicida , Suicidio/psicología
3.
Artículo en Inglés | MEDLINE | ID: mdl-31819759

RESUMEN

BACKGROUND: While growing literature is stressing the link between Autistic Traits (AT) and trauma-/stress-related disorders, in both conditions significant differences have been separately reported. OBJECTIVE: This study aims to evaluate the relationship between AT and trauma-/stress-related symptoms with respect to sex. METHODS: 178 university students were assessed with the Structured Clinical Interview for DSM-5, the Trauma and Loss Spectrum (TALS) and the Adult Autism Subthreshold Spectrum (AdAS). In order to evaluate sex differences in trauma-/stress-related symptoms among subjects with higher or lower AT, the sample was split in two groups with an equal number of subjects on the basis of the median score reported on AdAS Spectrum ("AdAS high scorers" and "AdAS low scorers"). RESULTS: Females reported significantly higher TALS total score, Loss events and Grief reaction domain scores than males in the whole sample, while AdAS high scorers reported significantly higher TALS total and domain scores than AdAS low scorers. A significant interaction between high/low AdAS score and sex emerged for TALS domains, with females scoring significantly higher than males only among AdAS low scorers, specifically on Loss events, Grief reaction, Re-experiencing and Personal characteristics/Risk factors domains. Finally, among AdAS high scorers a significantly higher rate of subjects fulfilled symptomatological criteria for PTSD than among AdAS low scorers, without sex differences. CONCLUSION: Our results confirm a significant relationship between AT and trauma-/stress-related symptoms, which seems to prevail on sex differences among high-risk subjects.

4.
Gynecol Oncol ; 147(1): 66-72, 2017 10.
Artículo en Inglés | MEDLINE | ID: mdl-28716306

RESUMEN

OBJECTIVES: To evaluate the impact of tertiary cytoreductive surgery (TCS) on survival in recurrent epithelial ovarian cancer (EOC), and to determine predictors of complete cytoreduction. METHODS: A multi-institutional retrospective study was conducted within the MITO Group on a 5-year observation period. RESULTS: A total of 103 EOC patients with a ≥6month treatment-free interval (TFI) undergoing TCS were included. Complete cytoreduction was achieved in 71 patients (68.9%), with severe post-operative complications in 9.7%, and no cases of mortality within 60days from surgery. Multivariate analysis identified the complete tertiary cytoreduction as the most potent predictor of survival followed by FIGO stage I-II at initial diagnosis, exclusive retroperitoneal recurrence, and TCS performed ≥3years after primary diagnosis. Patients with complete tertiary cytoreduction had a significantly longer overall survival (median OS: 43months, 95% CI 31-58) compared to those with residual tumor (median OS: 33months, 95% CI 28-46; p<0.001). After multivariate adjustment the presence of a single lesion and good (ECOG 0) performance status were the only significant predictors of complete surgical cytoreduction. CONCLUSIONS: This is the only large multicentre study published so far on TCS in EOC with ≥6month TFI. The achievement of postoperative no residual disease is confirmed as the primary objective also in a TCS setting, with significant survival benefit and acceptable morbidity. Accurate patient selection is of utmost importance to have the best chance of complete cytoreduction.


Asunto(s)
Procedimientos Quirúrgicos de Citorreducción/métodos , Recurrencia Local de Neoplasia/cirugía , Neoplasias Glandulares y Epiteliales/cirugía , Neoplasias Ováricas/cirugía , Adulto , Anciano , Carcinoma Epitelial de Ovario , Femenino , Humanos , Persona de Mediana Edad , Análisis Multivariante , Recurrencia Local de Neoplasia/patología , Neoplasias Glandulares y Epiteliales/mortalidad , Neoplasias Ováricas/mortalidad , Estudios Retrospectivos , Factores de Riesgo , Adulto Joven
5.
Compr Psychiatry ; 73: 61-83, 2017 02.
Artículo en Inglés | MEDLINE | ID: mdl-27918948

RESUMEN

AIM: Increasing literature has shown the usefulness of a dimensional approach to autism. The present study aimed to determine the psychometric properties of the Adult Autism Subthreshold Spectrum (AdAS Spectrum), a new questionnaire specifically tailored to assess subthreshold forms of autism spectrum disorder (ASD) in adulthood. METHODS: 102 adults endorsing at least one DSM-5 symptom criterion for ASD (ASDc), 143 adults diagnosed with a feeding and eating disorder (FED), and 160 subjects with no mental disorders (CTL), were recruited from 7 Italian University Departments of Psychiatry and administered the following: SCID-5, Autism-Spectrum Quotient (AQ), Ritvo Autism and Asperger Diagnostic Scale 14-item version (RAADS-14), and AdAS Spectrum. RESULTS: The AdAS Spectrum demonstrated excellent internal consistency for the total score (Kuder-Richardson's coefficient=.964) as well as for five out of seven domains (all coefficients>.80) and sound test-retest reliability (ICC=.976). The total and domain AdAS Spectrum scores showed a moderate to strong (>.50) positive correlation with one another and with the AQ and RAADS-14 total scores. ASDc subjects reported significantly higher AdAS Spectrum total scores than both FED (p<.001) and CTL (p<.001), and significantly higher scores on the Childhood/adolescence, Verbal communication, Empathy, Inflexibility and adherence to routine, and Restricted interests and rumination domains (all p<.001) than FED, while on all domains compared to CTL. CTL displayed significantly lower total and domain scores than FED (all p<.001). A significant effect of gender emerged for the Hyper- and hyporeactivity to sensory input domain, with women showing higher scores than men (p=.003). A Diagnosis* Gender interaction was also found for the Verbal communication (p=.019) and Empathy (p=.023) domains. When splitting the ASDc in subjects with one symptom criterion (ASD1) and those with a ASD, and the FED in subjects with no ASD symptom criteria (FED0) and those with one ASD symptom criterion (FED1), a gradient of severity in AdAS Spectrum scores from CTL subjects to ASD patients, across FED0, ASD1, FED1 was shown. CONCLUSIONS: The AdAS Spectrum showed excellent internal consistency and test-retest reliability and strong convergent validity with alternative dimensional measures of ASD. The questionnaire performed differently among the three diagnostic groups and enlightened some significant effects of gender in the expression of autistic traits.


Asunto(s)
Trastorno del Espectro Autista/diagnóstico , Trastorno Autístico/diagnóstico , Encuestas y Cuestionarios , Adolescente , Adulto , Estudios de Casos y Controles , Trastornos de Alimentación y de la Ingestión de Alimentos/diagnóstico , Femenino , Humanos , Masculino , Síntomas Prodrómicos , Psicometría , Reproducibilidad de los Resultados , Adulto Joven
6.
Pharmacopsychiatry ; 47(3): 105-10, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24846085

RESUMEN

INTRODUCTION: Major depression is a worldwide problem and often remains undetected and untreated. Given the low rates of detection plus the need to intervene in a short time, it is important to identify factors which are likely to improve treatment outcomes. METHODS: STIMA-D was designed to provide the profile of patients with major depression in Italy (focusing on pathway to care, patient characteristics, drug therapy and treatment outcomes). The patients enrolled (M/F, aged between 18 and 65) experienced single/multiple episodes of major depression (DSM-IV-TR). Patients with lifetime or current bipolar syndrome or other mental disorders were excluded. RESULTS: 44 of the 50 invited centers sent data concerning 1 140 patients. The majority of patients were women. Among working individuals, 52.5% of them were absent from work due to depression in the previous 6 months. Recurrent episodes of major depression were very common and were associated with persistence of residual post-episodic symptoms, a family history of mood disorders and presence of anxiety. 59.6% of the patients were treated with monotherapy (SSRI or SNRI), while 19.2% of them were treated with SSRI plus SNRI. Only the 25.5% on monotherapy had a complete response compared to 12.4% of patients on dual therapy. DISCUSSION: Poor outcomes in major depression have profound implications on patients' quality of life and cost burden. New pharmacological approaches with novel modes of action are therefore urgently needed.


Asunto(s)
Antidepresivos/uso terapéutico , Trastorno Depresivo Mayor/tratamiento farmacológico , Trastorno Depresivo Mayor/epidemiología , Resultado del Tratamiento , Adolescente , Adulto , Factores de Edad , Anciano , Trastorno Depresivo Mayor/psicología , Femenino , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Médicos/psicología , Calidad de Vida , Serotoninérgicos/uso terapéutico , Adulto Joven
7.
J Psychiatr Res ; 172: 200-209, 2024 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-38401365

RESUMEN

Aims of the present study were to prospectively assess psychosocial functioning trajectories during the COVID pandemic and the possible impact of sociodemographic variables, as well as of COVID-19 pandemic-related factors, on these trajectories, in a sample of patients with pre-existing severe mental disorders. Moreover, we aimed at identifying predictors of impairment in psychosocial functioning over a period of 9 months of COVID-19 pandemic. Patients were recruited during the 3rd wave of the COVID-19 pandemic (T0, March-April 2021) while strict containment measures were applied in Italy, and reassessed after 3 months (T1, June-July 2021), and after 6 months from T1 (T2- November-December 2021), during the 4th wave of COVID pandemic. A sample of 300 subject (out of the 527 subjects recruited at baseline) completed the T2 evaluation. Patients were assessed by: Work and Social Adjustment Scale (WSAS) for psychosocial functioning, Generalized Anxiety Disorder 7-Item (GAD-7) for anxiety symptoms, Patient Health Questionnaire-9 (PHQ-9) for depressive symptoms and the Impact of Events Scale-Revised, for post-traumatic symptoms. Cluster analyses identified 4 trajectories of functioning: the High, Stable Functioning group (N = 77), the Improvement Functioning group (N = 62), the Progressive Impairment group (N = 83) and the Persistent Severe Impairment group (N = 78) respectively. We found that predictors of higher WSAS score at T2 were higher WSAS score at T0 (B = 0.43, p < .001), PHQ scores at baseline >10 (B = 2.89, p < .05), while not living alone was found to be a protective factor (B = -2.5, p < .05). Results of the present study provides insights into the vulnerability of individuals with psychiatric disorders during times of crisis. Study findings can contribute to a better understanding of the specific needs of this population and inform interventions and support strategies.


Asunto(s)
COVID-19 , Trastornos Mentales , Humanos , Pandemias , Funcionamiento Psicosocial , Análisis por Conglomerados , Trastornos Mentales/epidemiología , Ansiedad/epidemiología , Depresión
8.
J Neonatal Perinatal Med ; 16(4): 747-754, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-38007678

RESUMEN

Lymphatic malformations are rare benign developmental anomalies of the lymphatic system that can be diagnosed by prenatal ultrasound. Depending on their anatomical site and size, the lesions can cause a variety of aesthetic and functional deficits. Several treatment options are available, the most suitable is still under debate. The experience gained at our Centre and the review of the literature can be useful to improve prenatal counseling, that is challenging due to the heterogeneity of clinical presentation and treatment.


Asunto(s)
Anomalías Linfáticas , Ultrasonografía Prenatal , Femenino , Humanos , Embarazo , Anomalías Linfáticas/diagnóstico por imagen , Anomalías Linfáticas/terapia , Diagnóstico Prenatal , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/terapia
9.
Br J Cancer ; 107(5): 785-92, 2012 Aug 21.
Artículo en Inglés | MEDLINE | ID: mdl-22864456

RESUMEN

BACKGROUND: The role of systematic aortic and pelvic lymphadenectomy (SAPL) at second-look surgery in early stage or optimally debulked advanced ovarian cancer is unclear and never addressed by randomised studies. METHODS: From January 1991 through May 2001, 308 patients with the International Federation of Gynaecology and Obstetrics stage IA-IV epithelial ovarian carcinoma were randomly assigned to undergo SAPL (n=158) or resection of bulky nodes only (n=150). Primary end point was overall survival (OS). RESULTS: The median operating time, blood loss, percentage of patients requiring blood transfusions and hospital stay were higher in the SAPL than in the control arm (P<0.001). The median number of resected nodes and the percentage of women with nodal metastases were higher in the SAPL arm as well (44% vs 8%, P<0.001 and 24.2% vs 13.3%, P:0.02). After a median follow-up of 111 months, 171 events (i.e., recurrences or deaths) were observed, and 124 patients had died. Sites of first recurrences were similar in both arms. The adjusted risk for progression and death were not statistically different (hazard ratio (HR) for progression=1.18, 95% confidence interval (CI)=0.87-1.59; P=0.29; 5-year progression-free survival (PFS)=40.9% and 53.8%; HR for death=1.04, 95% CI=0.733-1.49; P=0.81; 5-year OS=63.5% and 67.4%, in the SAPL and in the control arm, respectively). CONCLUSION: SAPL in second-look surgery for advanced ovarian cancer did not improve PFS and OS.


Asunto(s)
Ganglios Linfáticos/cirugía , Neoplasias Glandulares y Epiteliales/cirugía , Neoplasias Ováricas/cirugía , Adulto , Carcinoma Epitelial de Ovario , Quimioterapia Adyuvante , Progresión de la Enfermedad , Supervivencia sin Enfermedad , Femenino , Humanos , Escisión del Ganglio Linfático/métodos , Persona de Mediana Edad , Neoplasias Glandulares y Epiteliales/tratamiento farmacológico , Neoplasias Glandulares y Epiteliales/patología , Neoplasias Ováricas/tratamiento farmacológico , Neoplasias Ováricas/patología , Segunda Cirugía , Resultado del Tratamiento
10.
Eur J Surg Oncol ; 48(12): 2551-2557, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36089452

RESUMEN

OBJECTIVES: This study was designed to investigate the response to chemotherapy of supradiaphragmatic disease diagnosed by preoperative imaging. As secondary objectives, oncologic outcomes of patients affected by supradiaphragmatic disease and their pattern of recurrence were also evaluated. METHODS: Data of consecutive patients with newly diagnosed FIGO stage IV (for supradiaphragmatic disease) epithelial ovarian cancer undergoing either primary debulking surgery or neoadjuvant chemotherapy plus interval debulking surgery between 2004 and 2021, were retrospectively collected. All patients were preoperatively evaluated by chest/abdominal CT scan or 18F-FDG PET/CT preoperatively and at follow-up to evaluate response to chemotherapy. At follow-up visits, site of recurrence diagnosed by imaging techniques was systematically recorded as it occurred. Progression-free and overall survival were measured by using Kaplan-Meier and Cox models. RESULTS: A total of 130 patients was included in this study with a median (range) follow-up of 32.9 (12.8-176.7) months. Complete or partial response was achieved in most of the patients after 3 cycles (77.7%) and 6 cycles (85.4%) of chemotherapy. At follow-up, recurrence occurred in 96 (73.8%) patients and the main site of recurrence was abdomen only in 64 (66.7%) patients. At multivariate analysis, residual disease after surgery was the only variable influencing survival outcomes. CONCLUSIONS: Supradiaphragmatic disease respond to chemotherapy in most patients affected by advanced EOC and recurrence mainly occurs in the abdomen. Results from this study confirms that abdominal optimal cytoreduction is the main surgical goal in the treatment of women affected by FIGO stage IV EOC.


Asunto(s)
Neoplasias Ováricas , Humanos , Femenino , Pronóstico , Neoplasias Ováricas/cirugía , Neoplasias Ováricas/tratamiento farmacológico , Tomografía Computarizada por Tomografía de Emisión de Positrones , Estudios Retrospectivos , Estadificación de Neoplasias , Procedimientos Quirúrgicos de Citorreducción/métodos , Terapia Neoadyuvante , Quimioterapia Adyuvante
11.
Rev Sci Instrum ; 92(4): 043541, 2021 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-34243420

RESUMEN

Edge control in the C-2W field-reversed configuration experiment is crucial for the stability and energy confinement of the core plasma. Such edge control is achieved by electrical biasing on the end-on electrode plates. The radial electric field generated by the electrode biasing can be measured by E × B induced drift of impurity ions. Spatial heterodyne spectroscopy (SHS) is a promising method of high light throughput spectroscopy. Doppler shifted spectra of O4+ ion emission lines have been measured using a novel, in-house built SHS system. The electric field in the jet plasma inside the inner divertor of C-2W was estimated using the temporal profile of the rotational velocity of the oxygen ions. SHS system details, obtained measurements, and the methods of improving the system performance will be discussed.

12.
Sci Rep ; 11(1): 5952, 2021 03 15.
Artículo en Inglés | MEDLINE | ID: mdl-33723284

RESUMEN

Becker muscular dystrophy (BMD) is the milder allelic variant of Duchenne muscular dystrophy, with higher dystrophin levels. To anticipate on results of interventions targeting dystrophin expression it is important to know the natural variation of dystrophin expression between different muscles and over time. Dystrophin was quantified using capillary Western immunoassay (Wes) in the anterior tibial (TA) muscle of 37 BMD patients. Variability was studied using two samples from the same TA biopsy site in nine patients, assessing nine longitudinal TA biopsies, and eight simultaneously obtained vastus lateralis (VL) muscle biopsies. Measurements were performed in duplicate with two primary antibodies. Baseline dystrophin levels were correlated to longitudinal muscle strength and functional outcomes. Results showed low technical variability and high precision for both antibodies. Dystrophin TA levels ranged from 4.8 to 97.7%, remained stable over a 3-5 year period, and did not correlate with changes in longitudinal muscle function. Dystrophin levels were comparable between TA and VL muscles. Intra-muscle biopsy variability was low (5.2% and 11.4% of the total variability of the two antibodies). These observations are relevant for the design of clinical trials targeting dystrophin production, and may urge the need for other biomarkers or surrogate endpoints.


Asunto(s)
Biomarcadores , Distrofina/metabolismo , Expresión Génica , Inmunoensayo , Músculo Esquelético/metabolismo , Distrofia Muscular de Duchenne/genética , Distrofia Muscular de Duchenne/metabolismo , Adolescente , Adulto , Anciano , Biopsia , Niño , Preescolar , Distrofina/genética , Humanos , Inmunoensayo/métodos , Lactante , Persona de Mediana Edad , Músculo Esquelético/patología , Distrofia Muscular de Duchenne/diagnóstico , Mutación , Adulto Joven
13.
J Neonatal Perinatal Med ; 13(1): 91-96, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31609706

RESUMEN

BACKGROUND: Renal pelvic dilatation (RPD) is a frequent finding in fetal ultrasound. The aim of the study is to correlate the prenatally detected moderate and severe pyelectasis with the postnatal outcome. METHODS: A retrospective analysis involving 90 cases of prenatally detected moderate and severe RPD referred to our prenatal diagnosis centre with 18 months of urological follow-up. Prenatal ultrasound was correlated with postnatal renal function, assessed by plasmatic creatinine and/or renal scintigraphy performed before surgery. RESULTS: Cases were divided between two groups according to postnatal management: group A including 35 newborns (38.9%) that needed surgical treatment and group B with 55 patients (61.1%) who were managed conservatively. The group A presented higher median RPD (18 mm, IQR 12-25 mm) compared to the group B (11 mm, IQR 10-14 mm). The most common anomaly detected within group A was pelvi-ureteric junction (PUI) obstruction (43%). Within group B 32 cases (58%) showed spontaneous resolution of hydronephrosis during postnatal follow up. In case of moderate pyelectasis the risk of postnatal surgery was 25% and raised to 60% for severe RPD. In our study, 29 newborns showed pathologic scintigraphies: 25 required surgery while 4 did not find indication for surgery due to ipsilateral renal function irreversible damage. 6 patients had high creatinine level (>0.6 mg/dl). 35 cases out of 90 (39%) developed monolateral irreversible renal function impairment. CONCLUSION: Moderate and severe RPD are often correlated with postnatal renal damage, therefore a close multidisciplinary follow-up is required. Prenatal scanning is highly predictive of postnatal outcome and can address properly the prenatal counseling.


Asunto(s)
Tratamiento Conservador , Hidronefrosis/terapia , Pielectasia/terapia , Obstrucción Ureteral/cirugía , Procedimientos Quirúrgicos Urológicos , Reflujo Vesicoureteral/terapia , Creatinina/metabolismo , Femenino , Humanos , Hidronefrosis/complicaciones , Hidronefrosis/congénito , Hidronefrosis/diagnóstico por imagen , Recién Nacido , Pelvis Renal/cirugía , Masculino , Embarazo , Pielectasia/diagnóstico por imagen , Pielectasia/metabolismo , Cintigrafía , Remisión Espontánea , Insuficiencia Renal/congénito , Insuficiencia Renal/etiología , Insuficiencia Renal/metabolismo , Estudios Retrospectivos , Índice de Severidad de la Enfermedad , Riñón Único , Ultrasonografía Prenatal , Uréter/cirugía , Obstrucción Ureteral/congénito , Obstrucción Ureteral/diagnóstico por imagen , Estrechez Uretral/diagnóstico por imagen , Estrechez Uretral/metabolismo , Estrechez Uretral/terapia , Anomalías Urogenitales/diagnóstico por imagen , Anomalías Urogenitales/metabolismo , Anomalías Urogenitales/terapia , Reflujo Vesicoureteral/diagnóstico por imagen , Reflujo Vesicoureteral/metabolismo
14.
Sci Rep ; 10(1): 17547, 2020 10 16.
Artículo en Inglés | MEDLINE | ID: mdl-33067535

RESUMEN

Facioscapulohumeral muscular dystrophy (FSHD) is caused by the expression of DUX4 in skeletal muscles. A number of therapeutic approaches are being developed to antagonize the events preceding and following DUX4 expression that leads to muscular dystrophy. Currently, the possibility to evaluate treatment response in clinical trials is hampered by the lack of objective molecular biomarkers connecting the disease cause to clinical performance. In this study we employed RNA-seq to examine gene expression in PAXgene tubes obtained from two independent cohorts of FSHD patients. Analysis of gene expression profiles did not lead to the identification of genes or pathways differentially expressed in FSHD patients, or associated with disease severity. In particular, we did not find evidence that the DUX4 and PAX7 signatures were differentially expressed. On the other hand, we were able to improve patient classification by including single genes or groups of genes in classification models. The best classifier was ROPN1L, a gene known to be expressed in testis, coincidentally the typical location of DUX4 expression. These improvements in patient classification hold the potential to enrich the FSHD clinical trial toolbox.


Asunto(s)
Proteínas Adaptadoras Transductoras de Señales/sangre , Proteínas de Homeodominio/sangre , Músculo Esquelético/metabolismo , Distrofia Muscular Facioescapulohumeral/sangre , Factor de Transcripción PAX7/sangre , Adulto , Anciano , Femenino , Perfilación de la Expresión Génica , Regulación de la Expresión Génica , Proteínas de Homeodominio/genética , Humanos , Masculino , Persona de Mediana Edad , Distrofia Muscular Facioescapulohumeral/genética , RNA-Seq
15.
Ann Oncol ; 20(4): 660-5, 2009 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-19181826

RESUMEN

BACKGROUND: The efficacy and tolerability of the regimen containing paclitaxel and cisplatin (TP) in the neo-adjuvant treatment of locally advanced squamous cell cervical cancer are unknown. The TIP regimen (TP plus ifosfamide) showed high efficacy but high toxicity and it is used as an internal control. PATIENTS AND METHODS: In all, 154 patients were randomized to TP (paclitaxel 175 mg/m(2) + cisplatin 75 mg/m(2); n = 80) or TIP (TP + ifosfamide 5 g/m(2); n = 74), three cycles, followed by radical surgery. Pathological response to chemotherapy was classified as optimal [no residual tumor (complete response) or residual disease with < or = 3 mm stromal invasion (PR1)] or suboptimal response. RESULTS: Patient characteristics (TP/TIP): stage IB2 (56%/64%), IIA (18%/14%), IIB (20%/19%), III-IVA (5%/4%) and median age (42 years/45 years). The optimal response rate in the TP group was 25%, 95% confidence interval (CI) = 16% to 37% and 43%, 95% CI = 31% to 55% in the TIP group. Grades 3-4 leukopenia (6%/53%) and neutropenia (26%/76%) were significantly more frequent on TIP. CONCLUSION: TP performance was below expectation since the lower 95% confidence limit of the optimal response rate failed to reach the prespecified minimum requirement of efficacy, i.e. 22%. The TIP regimen confirmed its activity but was associated with higher haematological toxicity than TP.


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Carcinoma de Células Escamosas/tratamiento farmacológico , Carcinoma de Células Escamosas/cirugía , Cisplatino/administración & dosificación , Paclitaxel/administración & dosificación , Neoplasias del Cuello Uterino/tratamiento farmacológico , Neoplasias del Cuello Uterino/cirugía , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Quimioterapia Adyuvante , Cisplatino/efectos adversos , Terapia Combinada , Supervivencia sin Enfermedad , Femenino , Humanos , Ifosfamida/administración & dosificación , Ifosfamida/efectos adversos , Persona de Mediana Edad , Paclitaxel/efectos adversos , Taxoides/administración & dosificación , Taxoides/efectos adversos
16.
BJOG ; 116(1): 114-8, 2009 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-19087082

RESUMEN

We conducted a prospective study of conservative treatment in 21 young nulliparous women with grade (G)1 endometrial cancer stage IA (11) or atypical complex hyperplasia (10). All were treated with a low-dose cyclic natural progestin therapy (200 mg/day from day 14-25) and encouraged to attempt pregnancy immediately. No adverse therapy-related effects were recorded. Overall response rate to progestin therapy was 57%. Nine women conceived (43%). There were 13 pregnancies, of which 13 were spontaneous and 8 were in women with persistent disease or partial response to hormonal treatment. Three additional complete responses were observed after delivery. Only women with known primary infertility or severe polycystic ovary syndrome showed inadequate pregnancy rate. Fifteen women underwent definitive surgery after enrolment (median 27 months, range 3-56 months). All 21 women are alive and disease free after a median follow up of 98 months.


Asunto(s)
Carcinoma Endometrioide/tratamiento farmacológico , Hiperplasia Endometrial/tratamiento farmacológico , Neoplasias Endometriales/tratamiento farmacológico , Fertilidad/efectos de los fármacos , Complicaciones Neoplásicas del Embarazo/tratamiento farmacológico , Adulto , Antineoplásicos Hormonales/administración & dosificación , Métodos Epidemiológicos , Femenino , Humanos , Embarazo , Progestinas/administración & dosificación , Adulto Joven
17.
J Neonatal Perinatal Med ; 12(3): 339-343, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30883366

RESUMEN

OBJECTIVE: Ovarian cysts are relatively common prenatal findings in female fetuses. The aim of this study is to evaluate the ability of antenatal ultrasound in predicting spontaneous regression or a need for surgery. DESIGN: All cases of fetal ovarian cysts treated in our Department between 2007 and 2016 were included. Patients underwent a sonographic monitoring in utero and after birth until spontaneous or surgical resolution. Subjects were divided into two groups according to their postnatal management. Receiver-operating characteristics (ROC) curves were used to test the predictive ability for postnatal surgery of the cyst's mean and maximum diameters; their optimal cut off points were also determined. RESULTS: 38 cases of antenatally-detected fetal ovarian cysts were included. 12/38 cases underwent surgery (Group A). 26/38 cases were resolved spontaneously (Group B). Cyst size of those which were surgically excised significantly differed from those that regressed spontaneously. ROC curve pointed to 45 mm and 47 mm as optimal cut off points for the mean and the maximum cystic diameters, respectively. CONCLUSIONS: Cyst size and echo-structure seemed good predictors for prognosis after birth. The optimal cut off points of the cysts mean and maximum diameters in predicting postnatal surgery have been identified as 45 mm and 47 mm, respectively.


Asunto(s)
Quistes Ováricos/diagnóstico por imagen , Ultrasonografía Prenatal , Estudios de Casos y Controles , Estudios de Cohortes , Femenino , Humanos , Recién Nacido , Quistes Ováricos/cirugía , Embarazo , Pronóstico , Remisión Espontánea
18.
Minerva Ginecol ; 60(4): 287-93, 2008 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-18560343

RESUMEN

AIM: The aim of the study was to investigate cerebral and cardiac volume flow modifications in a group of preterm severely growth restricted (GR) fetuses with absent end diastolic flow (AEDF) in the umbilical artery. METHODS: Doppler indices of GR fetuses born at less than 32 weeks of gestation with AEDF in umbilical artery were longitudinally analyzed. Ductus venosus S/A, umbilical artery PI, middle cerebral artery (MCA) pulsatility index (PI), MCA volume flow and intracardiac flows were checked daily. The value of volume flow was determined by multiplying the vessel area obtained by means of a power angiography by the integral of the velocimetric curve. In Group 1 the time of delivery was decided when abnormal Doppler index in ductus venosus (S/A>3) was detected. In Group 2, decisions about delivery were based on maternal indications or on various cardiotocographic (CTG) abnormalities. The division in the two groups was made with a retrospective method. RESULTS: Fifteen GR fetuses were studied: seven cases entered Group 1 and eight cases Group 2. In Group 2 velocimetric (PI) and quantitative (volume flow) values remained stable until delivery. In all cases in Group 1 ductus venosus anomalies (S/A>3) were preceded by 24 hours by cerebral volume flow indices indicating the loss of MCA vasodilatation and by changes in intracardiac volume flow indices, while the PI increase in MCA was present only 24 hours after the changes detected by the volume flow study and were simultaneous to ductus venosus modifications. CONCLUSION: The decrease in volume flow through the middle cerebral artery occurs at least 24 hours before the increase of middle cerebral artery PI and before the ductus venosus anomalies. Flow through the four cardiac valves show modification in agreement to the changes of the middle cerebral artery flow.


Asunto(s)
Volumen Cardíaco , Retardo del Crecimiento Fetal/diagnóstico por imagen , Arteria Cerebral Media/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Arterias Umbilicales/diagnóstico por imagen , Adulto , Velocidad del Flujo Sanguíneo , Femenino , Retardo del Crecimiento Fetal/diagnóstico , Humanos , Recién Nacido , Italia , Embarazo , Resultado del Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Pronóstico , Estudios Retrospectivos , Sensibilidad y Especificidad , Índice de Severidad de la Enfermedad
19.
Transplant Proc ; 39(6): 1791-3, 2007.
Artículo en Inglés | MEDLINE | ID: mdl-17692614

RESUMEN

BACKGROUND: More than other operations on the body, organ transplantation has a psychological resonance relating to the self and body image representation, both in donors and in recipients. In the medical literature there are many psychopathological patterns related to ESRD and to the changes in psychologic assessment and lifestyle after transplantation. Similar changes have been found in living donors. METHODS: Forty-eight donor-recipient couples were evaluated before and 4 months after transplantation, using clinical interview, according to the DSM IV TR criteria; The structured Interview for renal transplantation, both for recipients and for donors; psychodiagnostic tests: mini-mental state; Hamilton Rating Scale for Depression; Hamilton Anxiety Scale; Self-Rating Anxiety Scale; Short-Form 36 Health Survey Questionnaire. RESULTS: Comparisons by paired Students t tests showed a significant Hamilton depression variation among recipients, with improvement in the gained score and reduction of depressive symptom (Hamilton score >7) frequency from 45.8% to 32%, and a decreased proportion of patients with a score >18 from 16.4% to 0%. There was no significant Hamilton Depression variation among donors, but there was somehow a reduction in depressive symptom frequency (Hamilton score >7) from 37.5% to 33.3% and a decrease among >18 scores from 12.6% to 0% patients. CONCLUSIONS: Living donor kidney transplantation did not adversely affect the lives of donors and significantly improved many aspects of the lives of recipients. However, physical and psychological aspects may be impaired by living donation. Careful donor selection, with appropriate pretransplantation psychiatric consulting, allows those with a normal life quality to donate without consequence to their physical or psychological status.


Asunto(s)
Depresión/epidemiología , Trasplante de Riñón/psicología , Riñón , Donadores Vivos/psicología , Calidad de Vida , Adulto , Ansiedad , Femenino , Estado de Salud , Humanos , Entrevistas como Asunto , Estilo de Vida , Estudios Longitudinales , Masculino , Persona de Mediana Edad , Dolor
20.
Clin Ter ; 168(2): e120-e127, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28383623

RESUMEN

AIM: The aim of this work was to validate the Italian version of GAI (GAI-It) and its short form (GAI-It SF) in an over 65-population. METHODS: In 3 recruitment areas across Italy, two raters reciprocally blind to results assessed eligible subjects; a semi-structured diagnostic clinical interview was performed by a psychiatrist. RESULTS: Among the 76 enrolled subjects (mean age 72.7±6.8 years), anxiety symptoms were very common: 69.7% (moderate/ severe HADS-Anxiety), 76.3% (moderate/severe STAI-state), 71.0% (moderate/severe STAI-trait), 61.8% (GAI), 55.3% (GAI-SF). Sensitivity, specificity and positive predictive value of GAI confirmed a good reliability of the Italian version, with Cronbach's Alpha equal to 0.93 for GAI-It and to 0.77 for GAI-It SF, indicating a very good and good construct validity, respectively, of the scales. The Pearson correlation index demonstrated a moderately positive correlation among GAI, GAI-SF and STAI. CONCLUSIONS: Our data confirm the validity of GAI-It as a valuable instrument to assess anxiety in an elderly population, for clinical and research purposes.


Asunto(s)
Ansiedad/diagnóstico , Escalas de Valoración Psiquiátrica , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Italia , Lenguaje , Masculino , Psicometría , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
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