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1.
J Intellect Disabil Res ; 66(8-9): 690-703, 2022 08.
Artículo en Inglés | MEDLINE | ID: mdl-35726628

RESUMEN

BACKGROUND: Adults with Down syndrome (DS) are at increased risk of developing Alzheimer's disease (AD) due to genetic predisposition. Identification of patients with AD is difficult since intellectual disabilities (ID) may confound diagnosis. The objective of this study was to evaluate the ability of the French version of the modified cued recall test (mCRT) to distinguish between subjects with and without AD in the adult DS population. METHODS: This was a retrospective, single-centre, medical records study including data between March 2014 and July 2020. Adults aged ≥30 years with DS who had at least one mCRT record available were eligible. Age, sex and ID level were extracted, and subjects were attributed to three groups: patients with AD, patients with co-occurring conditions that may impact cognitive function and subjects without AD. mCRT scores, adjusted by sex, age and ID level, were compared between groups. The optimal cut-off value to distinguish between patients with and without AD was determined using the receiver operating characteristic curve. The impact of age and ID level on mCRT scores was assessed. RESULTS: Overall, 194 patients with DS were included: 12 patients with AD, 94 patients with co-occurring conditions and 88 healthy subjects. Total recall scores were significantly lower (P < 0.0001) in patients with AD compared with healthy subjects. The optimal cut-off value to discriminate between patients with AD and healthy subjects was 22, which compares well with the cut-off value of 23 originally reported for the English version of the mCRT. Patients aged 30-44 years had higher mCRT total recall scores compared with patients aged ≥45 years (P = 0.0221). Similarly, patients with mild ID had higher mCRT scores compared with patients with severe ID (P < 0.0001). INTERPRETATION: The mCRT is a sensitive tool that may help in the clinical diagnosis of AD in subjects with DS. Early recognition of AD is paramount to deliver appropriate interventions to this vulnerable population.


Asunto(s)
Enfermedad de Alzheimer , Síndrome de Down , Discapacidad Intelectual , Adulto , Enfermedad de Alzheimer/diagnóstico , Síndrome de Down/diagnóstico , Síndrome de Down/psicología , Humanos , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/epidemiología , Registros Médicos , Recuerdo Mental , Pruebas Neuropsicológicas , Estudios Retrospectivos
2.
J Headache Pain ; 22(1): 43, 2021 May 24.
Artículo en Inglés | MEDLINE | ID: mdl-34030634

RESUMEN

BACKGROUND: There is currently a wide therapeutic arsenal for migraine patients, without a single first-line preventive drug and we choose the different available alternatives taking into account comorbidities, national guidelines, previous treatments and personal experiences. Our objective was to evaluate the differences in the use of migraine treatments between neurologists from different countries. METHODS: This is a multi-centre observational study carried out by neurologists from specialized headache units in seven countries, retrospective with consecutive inclusion of all patients presenting with a migraine diagnosis, over a period of three months. RESULTS: A total of 734 patients were recruited but only 600 were considered in the analysis in order to homogenize the patient cohorts from countries: 200 Spain (ES), 100 Italy (IT), 85 Russia (RUS), 80 Germany (DE), 60 Portugal (PT), 45 Poland (PL) and 30 Australia (AU). 85.4 % of patients were women with a mean age of 42.6 ± 11.8 years. Considering previous and current preventive treatment, the order of use was: antidepressants (69.3 %), antiepileptic drugs (54.7 %), beta-blockers and antihypertensive drugs (49.7 %), OnabotulinumtoxinA (44.0 %) and others (36.2 %). Statistically significant differences were found between all pharmacological classes: antidepressants were commonly used in all countries, with the exception of Poland (AU: 76.7 %, IT: 71.0 %, DE: 60.0 %, PL: 31.1 %, PT: 71.7 %, RUS: 70.6 %, ES: 78.5 %; p < 0.0001); antiepileptic drugs were more frequently prescribed in Portugal, Australia and Spain (AU: 73.3 %, IT: 40.0 %, DE: 37.5 %, PL: 48.9 %, PT: 85.0 %, RUS: 29.4 % and ES: 69.0 %; p < 0.0001); beta-blockers and antihypertensive drugs were frequently used in all countries except Italy (AU: 60.0 %, IT: 14.0 %, DE: 53.8 %, PL: 48.9 %, PT: 68.3 %, RUS: 49.4 % and ES: 59.0 %; p < 0.0001); BTX-A were predominately used in Spain, Italy and Australia (AU:56.7 %, IT:58.0 %, DE:20.0 %, PL: 42.2 %, PT: 26.7 %, RUS: 24.7 % and ES: 58.5 %; p < 0.0001) and others were most frequently used in Poland (AU: 0.0 %, IT: 19.0 %, DE: 42.5 %, PL: 95.6 %, PT: 31.7 %, RUS: 3.5 % and ES: 49.5 %; p < 0.0001). If only patients without comorbidities are considered (200/600), statistically differences between countries persist in all preventive treatments. CONCLUSIONS: There is heterogeneity in the choice of preventive treatment between different countries. Prospective comparative studies of the different oral and subcutaneous alternatives would help to create a global therapeutic algorithm that would guarantee the best option for our patients.


Asunto(s)
Trastornos Migrañosos , Adulto , Australia/epidemiología , Femenino , Cefalea , Humanos , Italia/epidemiología , Masculino , Persona de Mediana Edad , Trastornos Migrañosos/tratamiento farmacológico , Trastornos Migrañosos/epidemiología , Estudios Prospectivos , Estudios Retrospectivos , España
3.
Int J Obes (Lond) ; 40(12): 1875-1883, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27698344

RESUMEN

BACKGROUND/OBJECTIVES: Vitamin D is an anti-inflammatory nutrient and a determinant of bone health. Some prospective studies suggest that maternal vitamin D status is positively associated with offspring bone mass. We found that serum concentrations of lipopolysaccharide (LPS), an inflammatory molecule related to adiposity, insulin resistance and bone resorption, is lower in healthy mouse offspring exposed to high dietary vitamin D during pregnancy and lactation. LPS reaches the circulation via the gut. This study investigated whether maternal vitamin D programs metabolic, gut and bone health of male offspring in an obesogenic environment. METHODS: C57BL/6J dams received an AIN-93G diet with high (H) or low (L) vitamin D during pregnancy and lactation. At weaning, offspring remained on their dam's vitamin D level (LL or HH) or were switched (LH or HL) and fed a high fat (44.2%) and sucrose (19.8%) diet. Glucose response, adiposity, systemic inflammation (LPS, cytokines), intestinal permeability and mass, strength and microarchitecture of trabecular and cortical bone were assessed in 7-month-old male offsprings. RESULTS: Higher maternal dietary vitamin D resulted in lower intestinal permeability (fecal albumin, P=0.010) and benefited trabecular but not cortical bone structure at the distal femur (higher trabecular number, P=0.022; less trabecular separation, P=0.015) and lumbar vertebra 2 (bone volume/total volume%, P=0.049). Higher maternal and offspring vitamin D resulted in lower fasting glucose (HH versus LL, P=0.039) and serum LPS concentrations (dam diet, P=0.011; pup diet, P=0.002). Higher offspring vitamin D resulted in lower epididymal fat pad relative weight (P=0.006). The serum concentrations of IL-6 and TNF-α did not differ among groups. CONCLUSIONS: Maternal dietary vitamin D beneficially programs intestinal permeability and systemic LPS concentration, which is accompanied by stronger trabecular bone in an obesogenic environment. Thus, the gut may mediate vitamin D effects. Moreover, optimizing vitamin D in early life may be critical for later health.


Asunto(s)
Huesos/efectos de los fármacos , Intestinos/efectos de los fármacos , Fenómenos Fisiologicos Nutricionales Maternos , Metabolismo/efectos de los fármacos , Obesidad/metabolismo , Efectos Tardíos de la Exposición Prenatal , Vitamina D/farmacología , Animales , Biomarcadores/sangre , Densidad Ósea , Huesos/metabolismo , Dieta Alta en Grasa , Modelos Animales de Enfermedad , Relación Dosis-Respuesta a Droga , Conducta Alimentaria , Femenino , Resistencia a la Insulina/fisiología , Mucosa Intestinal/metabolismo , Lactancia , Masculino , Ratones , Ratones Endogámicos C57BL , Obesidad/sangre , Obesidad/patología , Embarazo , Oligoelementos/sangre , Vitamina D/sangre , Destete
4.
Pharmacogenomics J ; 16(3): 238-42, 2016 06.
Artículo en Inglés | MEDLINE | ID: mdl-26149736

RESUMEN

The genetic predisposition to a long-term efficacy of anti-tumor necrosis factor (TNF)α treatment in seronegative spondyloarthritis (SpA) was investigated by analysing the possible correlation between several single nucleotide gene polymorphisms and the retention rate of anti-TNFα therapies. We compared patients needing to switch the first anti-TNFα (Sw, No. 64) within at least 12 months of follow-up with patients not needing to switch (NSw, No. 123), observing at least 6 months of treatment to establish anti-TNFα failure, leading to treatment change. Response to treatment was evaluated by standardised criteria (BASDAI for axial involvement, DAS28-EULAR for peripheral involvement). The TNFα -308 A allele and the interleukin (IL)-6 -174GG homozygosis resulted as independent biomarkers predicting survival of the first anti-TNFα therapy in SpA patients (P=0.007, odds ratio (OR): 4.4, 95% confidence interval (CI)=1.5-13.1 and P=0.035, OR: 2.1, 95% CI=1.1-4.4). Also, the male gender (P=0.001, OR: 3.4, 95% CI=1.6-7.1) associated with the NSw phenotype, whereas no association was found either with the specific diagnosis or the predominant joint involvement.


Asunto(s)
Antirreumáticos/uso terapéutico , Productos Biológicos/uso terapéutico , Interleucina-6/genética , Variantes Farmacogenómicas/genética , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Espondiloartritis/tratamiento farmacológico , Factor de Necrosis Tumoral alfa/antagonistas & inhibidores , Factor de Necrosis Tumoral alfa/genética , Adulto , Anciano , Anciano de 80 o más Años , Antirreumáticos/efectos adversos , Productos Biológicos/efectos adversos , Distribución de Chi-Cuadrado , Sustitución de Medicamentos , Femenino , Estudios de Asociación Genética , Homocigoto , Humanos , Italia , Modelos Logísticos , Masculino , Persona de Mediana Edad , Análisis Multivariante , Oportunidad Relativa , Pruebas de Farmacogenómica , Fenotipo , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Medición de Riesgo , Factores de Riesgo , Factores Sexuales , Espondiloartritis/sangre , Espondiloartritis/genética , Espondiloartritis/inmunología , Factores de Tiempo , Insuficiencia del Tratamiento , Factor de Necrosis Tumoral alfa/inmunología , Adulto Joven
5.
Eur J Neurol ; 23(11): 1627-1634, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27456069

RESUMEN

BACKGROUND AND PURPOSE: The incidence and case-fatality rate (CFR) of primary intracerebral hemorrhage (PICH) over two decades were assessed in a prospective population-based study. METHODS: Cases of incident first-ever PICH were recorded over a 2-year period (2011-2012) from multiple sources in the district of L'Aquila, central Italy. Included patients were followed up to 1 year after the event to ascertain CFRs. Current data were compared with those previously collected from 1994 through 1998. RESULTS: In all, 115 patients (52 men; 45.2%) with a first-ever PICH were included. Mean age ± SD was 77.4 ± 11.8 years. The hemorrhage was lobar in 43 (37.4%) patients, deep in 56 (48.7%), in the posterior fossa in 11 (9.6%) and intraventricular or multiple localized in five (4.3%). Crude annual incidence rate was 19.3 per 100 000 and 14.8 per 100 000 when standardized to the 2011 European population, indicating a 48% reduction comparing data of 2011-2012 to those of 1994-1998 (incidence rate ratio 0.52; 95% confidence interval 0.43-0.64; P < 0.001). In 2011-2012, the 7-day CFR was 27.8%, the 30-day CFR was 42.6% and the 1-year CFR was 52.2%; the 1-year standardized mortality ratio was 0.81 (95% confidence interval 0.63-1.04) compared with 1994-1998. CONCLUSIONS: The annual incidence rate of PICH was lower than that found two decades before and close to the rates recently found in other western countries. Data also indicated a non-significant trend towards a decrease in mortality, which nonetheless remained high, pointing to the need for more appropriate treatments in order to reduce PICH severity and mortality.


Asunto(s)
Hemorragia Cerebral/epidemiología , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Estudios Prospectivos
6.
Eur J Neurol ; 22(6): 1001-11, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25808832

RESUMEN

BACKGROUND AND PURPOSE: Several studies have assessed the risk of ischaemic heart diseases in migraineurs, drawing different conclusions. To define and update the issue, a systematic review and meta-analysis of the available observational studies was performed. METHODS: PubMed and EMBASE were systematically searched up to April 2014 for observational studies dealing with the risk of any form of ischaemic heart disease in migraineurs. Studies assessing migraine as exposure and several types of ischaemic heart disease as outcomes were included in the analysis. A random effects model was used to pool the effect sizes. RESULTS: Out of 3348 records, 15 studies (one case-control, one cross-sectional and 13 cohort studies) were identified and were included in the meta-analysis. The pooled analysis indicated an increased risk of myocardial infarction (pooled adjusted effect estimate 1.33, 95% confidence interval 1.08-1.64; P = 0.007) and of angina (pooled adjusted effect estimate 1.29, 95% confidence interval 1.17-1.43; P < 0.0001) in migraineurs compared to non-migraineurs. CONCLUSIONS: Based on our data indicating an association of migraine with myocardial infarction and angina and on previous data showing an association of migraine, and particularly migraine with aura, with an increased risk for stroke, migraine can be appropriately considered an overall risk factor for cardiovascular diseases.


Asunto(s)
Angina de Pecho/epidemiología , Comorbilidad , Trastornos Migrañosos/epidemiología , Infarto del Miocardio/epidemiología , Humanos
7.
Nutr Metab Cardiovasc Dis ; 25(6): 548-55, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25836955

RESUMEN

BACKGROUND AND AIMS: Owing to the multiplicity of the key components of metabolic syndrome (MetS), its diagnosis is very complex. The lack of a unique definition is responsible for the prevalence variability observed among studies; therefore, a definition based on continuous variables was recommended. The aim of this study was to compare competing models of the MetS factor structure for selecting the one that explains the best clustering pattern and to propose an algorithm for computing MetS as a continuous variable. METHODS AND RESULTS: Data were from isolated Sardinian populations (n = 8102). Confirmatory factor analysis (CFA) and two-group CFA by gender were performed to evaluate the sex-specific factor structure of MetS. After selecting the best model, an algorithm was obtained using factor loadings/residual variances. The quality of the MetS score was evaluated by the receiver operating characteristics curve and the area under the curve. Cross-validation was performed to validate the score and to determine the best cut point. The best fit model was a bifactor one with a general factor (MetS) and three specific factors (f1: obesity/adiposity trait; f2: hypertension/blood pressure trait; and f3: lipid trait). Gender-specific algorithms were implemented to obtain MetS scores showing a good diagnostic performance (0.80 specificity and 0.80 sensitivity for the cut point). Furthermore, cross-validation confirmed these results. CONCLUSION: These analyses suggested that the bifactor model was the most representative one. In addition, they provided a score and a cut point that are both clinically accessible and interpretable measures for MetS diagnosis and likely useful for evaluating the association with adverse cardiovascular disease and diabetes and for investigating the MetS genetic component.


Asunto(s)
Marcadores Genéticos , Síndrome Metabólico/epidemiología , Síndrome Metabólico/genética , Modelos Genéticos , Adiposidad/genética , Adulto , Anciano , Algoritmos , Área Bajo la Curva , Presión Sanguínea/genética , Índice de Masa Corporal , Análisis por Conglomerados , Estudios Transversales , Dislipidemias/diagnóstico , Dislipidemias/genética , Dislipidemias/metabolismo , Análisis Factorial , Femenino , Predisposición Genética a la Enfermedad , Encuestas Epidemiológicas , Humanos , Hipertensión/diagnóstico , Hipertensión/genética , Hipertensión/fisiopatología , Italia/epidemiología , Metabolismo de los Lípidos/genética , Masculino , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/metabolismo , Síndrome Metabólico/fisiopatología , Persona de Mediana Edad , Obesidad/diagnóstico , Obesidad/genética , Obesidad/fisiopatología , Fenotipo , Valor Predictivo de las Pruebas , Prevalencia , Curva ROC , Reproducibilidad de los Resultados , Factores de Riesgo , Factores Sexuales , Circunferencia de la Cintura
8.
Cephalalgia ; 34(5): 349-56, 2014 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-24243987

RESUMEN

OBJECTIVES: Several studies have suggested an association between migraine and insulin resistance (IR) without adequately addressing the issue according to migraine type. We assessed IR in subjects with migraine with aura (MwA) and migraine without aura (MwoA) to estimate the consistency of the possible association. METHODS: In a case-control study we included case subjects with MwA and MwoA, who were consecutively selected from those referred to our Regional Headache Center from September 2011 to February 2013, and age-matched control subjects selected using general practitioners' databases. IR was calculated by means of the homeostatic model assessment of IR (HOMA-IR), ß-cell function (HOMA-B), and the quantitative insulin sensitivity check index (QUICKI) measuring glucose and insulin values in a blood sample collected in the morning after overnight fasting. Data regarding anthropometric measures, comorbidity risk factors, and migraine characteristics were also recorded. RESULTS: We recruited 50 case subjects with MwA (38 women) and 50 with MwoA (40 women) and 50 control subjects (40 women). Proportions of arterial hypertension, cigarette smoking, hypercholesterolemia, use of oral contraceptives, and mean values of the body mass index (BMI) were similar in the three groups. We found significantly different glucose values among and within groups considering case subjects with MwA and MwoA and control subjects (4.9 ± 0.6 vs 4.7 ± 0.5 vs 4.6 ± 0.5 mmol/l; P = 0.018) in the absence of any difference in insulin (53.1 ± 24.0 vs 56.7 ± 34.4 vs 53.8 ± 24.4 pmol/l; P = 0.811), HOMA-IR (1.6 ± 0.8 vs 1.7 ± 1.0 vs 1.6 ± 0.7; P = 0.765), HOMA-B (121.4 ± 71.1 vs 149.2 ± 93.8 vs 162.8 ± 109.7; P = 0.107), and QUICKI (0.36 ± 0.03 vs 0.37 ± 0.03 vs 0.37 ± 0.03; P = 0.877) values. The logistic regression model showed increased odds of MwA in subjects exposed to the highest tertile of glucose values. This association was confirmed in the adjusted model, in which case subjects with MwA were compared with those with MwoA but not with control subjects. CONCLUSIONS: In contrast to what has been shown by the majority of the available studies, the results of our study do not support the association of migraine with IR. As our study was not population-based and several patients had low disease activity, these findings need further confirmation.


Asunto(s)
Resistencia a la Insulina , Migraña con Aura/complicaciones , Migraña sin Aura/complicaciones , Adulto , Índice de Masa Corporal , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad
9.
Ann Ig ; 26(3): 255-63, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24998216

RESUMEN

BACKGROUND: As the link between agricultural pesticides and numerous types of human cancers is wellknown. Farmers living in the Province of Vercelli (Italy) were observed to verify if they have a higher cancer risk than the rest of the local employed population. Literature showed a well-known excess of cancer morbidity and mortality in the Province of Vercelli, but only few studies focused on cancer incidence in local farmers. Studying farmers could allow to assess the causal importance respectively of environmental pressure and professional exposure factors in explaining cancer excesses in the above-mentioned area. MATERIALS AND METHODS: The present ecological study considered all cancer new cases recorded among the mean employed population with a range of age from 25 to 84 years and resident in the Province of Vercelli during the four-year period 2002-2005. Cancer odds ratios, by gender and type of cancer, between farmers and non-farmers were calculated. RESULTS: Farmers showed a higher risk for the following tumors: colorectal (OR 2.38, IC95%: 1,76-2,87), leaukaemia (OR 2.65, IC95%:2,12-2,89), digestive system (OR 2.16, IC95% 1,92-2,33), lymphoma OR 2.08, IC95%:1,99-2,23), melanoma (OR 2.90, IC95%:2,54-3,15), myeloma OR 3.55, IC95%:3,23-3,70), pancreas OR 3.38, IC95%:3,14-3,61), lung (1.59, IC95%:1,12-2,38) and kidney (2.70, IC95%:2,41-2,99). Males showed a higher risk for lung cancer, females for liver neoplasm, melanoma and lymphoma. CONCLUSIONS: Farmers showed a higher risk for several cancers. Further studies are needed, in order to examine in detail the issue, to encourage the use of personal protective equipment and to promote a more responsible pesticides use.


Asunto(s)
Agricultura , Neoplasias/epidemiología , Enfermedades Profesionales/epidemiología , Exposición Profesional/efectos adversos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Incidencia , Italia/epidemiología , Masculino , Persona de Mediana Edad , Neoplasias/patología , Enfermedades Profesionales/patología , Factores de Riesgo , Factores Sexuales
10.
J Neurol ; 270(2): 986-994, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36326890

RESUMEN

INTRODUCTION: Although migraine prevalence decreases with aging, some older patients still suffer from chronic migraine (CM). This study aimed to investigate the outcome of OnabotulinumtoxinA (OBT-A) as preventative therapy in elderly CM patients. METHODS: This is a post hoc analysis of real-life prospectively collected data at 16 European headache centers on CM patients treated with OBT-A over the first three treatment cycles (i.e., Cy1-3). We defined: OLD patients aged ≥ 65 years and nonOLD those < 65-year-old. The primary endpoint was the changes in monthly headache days (MHDs) from baseline to Cy 1-3 in OLD compared with nonOLD participants. The secondary endpoints were the responder rate (RR) ≥ 50%, conversion to episodic migraine (EM) and the changes in days with acute medication use (DAMs). RESULTS: In a cohort of 2831 CM patients, 235 were OLD (8.3%, 73.2% females, 69.6 years SD 4.7). MHDs decreased from baseline (24.8 SD 6.2) to Cy-1 (17.5 SD 9.1, p < 0.000001), from Cy-1 to Cy-2 (14.8 SD 9.2, p < 0.0001), and from Cy-2 to Cy-3 (11.9 SD 7.9, p = 0.001). DAMs progressively reduced from baseline (19.2 SD 9.8) to Cy-1 (11.9 SD 8.8, p < 0.00001), to Cy-2 (10.9 SD 8.6, p = 0.012), to Cy-3 (9.6 SD 7.4, p = 0.049). The 50%RR increased from 30.7% (Cy-1) to 34.5% (Cy-2), to 38.7% (Cy-3). The above outcome measures did not differ in OLD compared with nonOLD patients. CONCLUSION: In a population of elderly CM patients with a long history of migraine OBT-A provided a significant benefit, over the first three treatment cycles, as good as in non-old patients.


Asunto(s)
Toxinas Botulínicas Tipo A , Trastornos Migrañosos , Anciano , Femenino , Humanos , Masculino , Toxinas Botulínicas Tipo A/uso terapéutico , Enfermedad Crónica , Trastornos Migrañosos/tratamiento farmacológico , Trastornos Migrañosos/epidemiología , Cefalea/tratamiento farmacológico , Resultado del Tratamiento
11.
Diabet Med ; 29(6): 761-6, 2012 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-22133003

RESUMEN

AIMS: Several studies confirmed the growing rate of Type 1 diabetes mellitus in childhood coinciding with increasing diagnosis of viral infections. A study investigating the incidence of Type 1 diabetes during 1996-1997 showed a higher notification of viral infections in the Pavia District. The aim was to confirm these results. METHODS: This study evaluated the relationship between new cases of Type 1 diabetes and those of measles, mumps and rubella in 1996-2001, analysing data of newly-diagnosed Type 1 diabetes children, aged 0-14 years and enrolled into the RIDI (Italian Insulin-dependent Diabetes Registry) during the same years. Measles, rubella and mumps rates were calculated using as denominator the estimated 'population at risk', represented by the number of 0- to 14 year-old subjects who did not undergo the MMR (measles, mumps and rubella) vaccination. In order to investigate the association between Type 1 diabetes incidence and measles, rubella and mumps respectively, Spearman's rank correlation was used. RESULTS: The analysis of the whole Registries data did not at first show any statistical significance between age-standardized Type 1 diabetes incidence density and estimated rates of measles, mumps and rubella notifications. Excluding data from Sardinia Registry, a significant association was observed between Type 1 diabetes incidence and mumps (P = 0.034) and rubella (P = 0.014), respectively, while there was no statistical significance between the incidence of measles cases and diabetes rates (P = 0.269). CONCLUSIONS: According to our findings, mumps and rubella viral infections are associated with the onset of Type 1 diabetes. The statistical significance observed after exclusion of the Sardinian data suggests that other environmental factors may operate over populations with different genetic susceptibility.


Asunto(s)
Anticuerpos Antivirales/sangre , Diabetes Mellitus Tipo 1/epidemiología , Vacuna contra el Sarampión-Parotiditis-Rubéola , Sarampión/epidemiología , Paperas/epidemiología , Rubéola (Sarampión Alemán)/epidemiología , Adolescente , Índice de Masa Corporal , Niño , Preescolar , Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/inmunología , Femenino , Humanos , Incidencia , Lactante , Recién Nacido , Italia/epidemiología , Masculino , Sarampión/sangre , Sarampión/inmunología , Vacuna contra el Sarampión-Parotiditis-Rubéola/administración & dosificación , Vacuna contra el Sarampión-Parotiditis-Rubéola/inmunología , Paperas/sangre , Paperas/inmunología , Sistema de Registros , Rubéola (Sarampión Alemán)/sangre , Rubéola (Sarampión Alemán)/inmunología
12.
G Chir ; 33(1-2): 10-3, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22357430

RESUMEN

Situs viscerum inversus totalis is a rare defect with a genetic predisposition, which can present difficulties in the management of abdominal pathology, especially in laparoscopic surgery (mirror-image anatomy). We report the case of a 52-year-old female with situs viscerum inversus totalis, known from pediatric age, with a medical history of colic pain in the epigastrium radiating to the right abdominal quadrant. Laparoscopic cholecistectomy was safely performed with a three trocar technique. To the best of our knowledge this is the first time that laparoscopic cholecistectomy by three trocars was performed in a patient with situs viscerum inversus. We also review the relevant literature concerning this issue.


Asunto(s)
Colecistectomía Laparoscópica/instrumentación , Colelitiasis/complicaciones , Colelitiasis/cirugía , Situs Inversus/complicaciones , Colecistectomía Laparoscópica/métodos , Femenino , Humanos , Persona de Mediana Edad , Resultado del Tratamiento
13.
Eur Stroke J ; 6(3): CXXII-CXXXIV, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-34746429

RESUMEN

The first European Stroke Organization (ESO) standard operating procedure (SOP) published in 2015 aimed at the implementation the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology to provide evidence-based guidelines for stroke management. This second ESO-SOP is aiming at further increase of the practicability of ESO guidelines and its technical implications. Authors comprised of the members of the ESO guideline Board and ESO Executive Committee. The final document was agreed on by several internal reviews. The second SOP comprises of the following aspects: rational for the SOP, the introduction of expert consensus statements, types of guideline documents, structures involved and detailed description of the guideline preparation process, handling of financial and intellectual conflicts of interest (CoI), involvement of ESO members in the guideline process, review process, authorship and publication policy, updating of guidelines, cooperation with other societies, and dealing with falsified data. This second SOP supersedes the first SOP published in 2015.

14.
J Neurol ; 268(8): 2780-2807, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-32318851

RESUMEN

Despite intensive investigations, about 30% of stroke cases remains of undetermined origin. After exclusion of common causes of stroke, there is a number of rare heritable and non-heritable conditions, which often remain misdiagnosed, that should be additionally considered in the diagnosis of cryptogenic stroke. The identification of these diseases requires a complex work up including detailed clinical evaluation for the detection of systemic symptoms and signs, an adequate neuroimaging assessment and a careful family history collection. The task becomes more complicated by phenotype heterogeneity since stroke could be the primary or unique manifestation of a syndrome or represent just a manifestation (sometimes minor) of a multisystem disorder. The aim of this review paper is to provide clinicians with an update on clinical and neuroradiological features and a set of practical suggestions for the diagnostic work up and management of these uncommon causes of stroke. The identification of these stroke causes is important to avoid inappropriate and expensive diagnostic tests, to establish appropriate management measures, including presymptomatic testing, genetic counseling, and, if available, therapy. Therefore, physicians should become familiar with these diseases to provide future risk assessment and family counseling.


Asunto(s)
Accidente Cerebrovascular , Causalidad , Pruebas Genéticas , Humanos , Accidente Cerebrovascular/complicaciones , Accidente Cerebrovascular/diagnóstico por imagen , Accidente Cerebrovascular/genética
15.
Eur J Radiol ; 131: 109269, 2020 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-32949860

RESUMEN

RATIONALE AND OBJECTIVES: To evaluate the impact on perceived report quality of referring rheumatologists for a chest high-resolution computed tomography (HRCT) structured report (SR) template for patients with connective tissue disease (CTD), compared to the traditional narrative report (NR). MATERIALS AND METHODS: We retrospectively considered 123 HRCTs in patients with CTD. Three radiologists, blinded to the original NRs they wrote during clinical routine, re-reported each HRCT using an SR dedicated template. We then divided all NR-SR couples into three groups (41 HRCT each). Each group was evaluated by one of three rheumatologists (R1, R2, R3), who expressed their perceived report quality for the respective pools of NRs and SRs in terms of completeness, clarity (both on a 10-points scale), and clinical relevance (on a 5-points scale). The Wilcoxon test and the McNemar test were used for statistical analysis. RESULTS: For each rheumatologist, SR received higher ratings compared to NR for completeness (median ratings: R1, 10 vs. 7; R2, 10 vs. 8; R3, 10 vs. 6, all p < 0.0001), clarity (median ratings: R1, 10 vs. 7; R2, 10 vs. 8; R3, 10 vs. 7, all p < 0.0001), and clinical relevance (median ratings: R1, 5 vs. 4; R2, 5 vs. 4; R3, 5 vs. 1, all p < 0.0001). After rating dichotomization, the use of SR led to a significant increase (p < 0.01) in completeness, clarity, and clinical relevance as compared to NR, except for clarity as perceived by R2 (p = 1). CONCLUSION: Referring rheumatologists' perceived report quality for structured reporting of HRCT in patients with CTD was superior to narrative reporting.


Asunto(s)
Enfermedades del Tejido Conjuntivo/diagnóstico por imagen , Registros Médicos/normas , Tórax/diagnóstico por imagen , Tomografía Computarizada por Rayos X/métodos , Adulto , Anciano , Anciano de 80 o más Años , Femenino , Humanos , Comunicación Interdisciplinaria , Masculino , Persona de Mediana Edad , Derivación y Consulta , Estudios Retrospectivos , Reumatólogos , Adulto Joven
16.
AJNR Am J Neuroradiol ; 41(12): 2219-2226, 2020 12.
Artículo en Inglés | MEDLINE | ID: mdl-33154077

RESUMEN

BACKGROUND AND PURPOSE: MR imaging is essential for MS diagnosis and management, yet it has limitations in assessing axonal damage and remyelination. Gadolinium-based contrast agents add value by pinpointing acute inflammation and blood-brain barrier leakage, but with drawbacks in safety and cost. Neurite orientation dispersion and density imaging (NODDI) assesses microstructural features of neurites contributing to diffusion imaging signals. This approach may resolve the components of MS pathology, overcoming conventional MR imaging limitations. MATERIALS AND METHODS: Twenty-one subjects with MS underwent serial enhanced MRIs (12.6 ± 9 months apart) including NODDI, whose key metrics are the neurite density and orientation dispersion index. Twenty-one age- and sex-matched healthy controls underwent unenhanced MR imaging with the same protocol. Fifty-eight gadolinium-enhancing and non-gadolinium-enhancing lesions were semiautomatically segmented at baseline and follow-up. Normal-appearing WM masks were generated by subtracting lesions and dirty-appearing WM from the whole WM. RESULTS: The orientation dispersion index was higher in gadolinium-enhancing compared with non-gadolinium-enhancing lesions; logistic regression indicated discrimination, with an area under the curve of 0.73. At follow-up, in the 58 previously enhancing lesions, we identified 2 subgroups based on the neurite density index change across time: Type 1 lesions showed increased neurite density values, whereas type 2 lesions showed decreased values. Type 1 lesions showed greater reduction in size with time compared with type 2 lesions. CONCLUSIONS: NODDI is a promising tool with the potential to detect acute MS inflammation. The observed heterogeneity among lesions may correspond to gradients in severity and clinical recovery after the acute phase.


Asunto(s)
Imagen de Difusión por Resonancia Magnética/métodos , Inflamación/diagnóstico por imagen , Esclerosis Múltiple/diagnóstico por imagen , Neuritas/patología , Neuroimagen/métodos , Adulto , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Estudios Transversales , Femenino , Humanos , Interpretación de Imagen Asistida por Computador/métodos , Inflamación/patología , Masculino , Esclerosis Múltiple/patología
17.
Clin Exp Rheumatol ; 27(4): 567-73, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19772786

RESUMEN

OBJECTIVES: To assess the effects of intramuscular (im) neridronate (NE) on lumbar and femoral neck BMD and on markers of bone turnover in rheumatic patients under chronic low-dose glucocorticoids (GC) therapy. METHODS: Sixty-nine osteopoenic and osteoporotic patients, affected by rheumatic diseases and gastric or esophageal conditions which contraindicated treatment with oral bisphosphonates (BPs), were randomly assigned to: Group A (23 patients) administered with daily calcium 1 g and vitamin D 800 UI; Group B (46 patients) receiving daily calcium 1 g, vitamin D 800 UI and im NE 25 mg monthly. RESULTS: After 12 months of therapy (M12) lumbar BMD was reduced of 2.97% in Group A, and improved of 3.34% (p=0.001) in Group B; at M12, femoral neck BMD was reduced of 2.40% in Group A and improved of 1.78% in Group B (p=0.010). After 6 (M6) and 12 months of therapy, the bone resorption markers were significantly reduced in Group B: OHPr-41.64% at M6 (p<0.001) and -37.91% at M12 (p<0.001); DPD-33.4% at M6 (p<0.001) and -33.18% (p<0.001) at M12: NTX -57.08% (p<0.001) at M6 and -55.95% (p<0.001) at M12; OC-11.62% (p=0.05) at M6 and -12.62% at M12 (p=0.06); B-ALP -13.95 % at M6 (p=0.04) and -0.85% at M12 (NS). CONCLUSION: A twelve-month intramuscular NE treatment in rheumatic patients under GCs therapy improves lumbar and femoral BMD and mainly reduces the markers of bone resorption.


Asunto(s)
Antirreumáticos/efectos adversos , Conservadores de la Densidad Ósea/uso terapéutico , Resorción Ósea/tratamiento farmacológico , Difosfonatos/uso terapéutico , Glucocorticoides/efectos adversos , Enfermedades Reumáticas/tratamiento farmacológico , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Biomarcadores/sangre , Densidad Ósea/efectos de los fármacos , Densidad Ósea/fisiología , Conservadores de la Densidad Ósea/administración & dosificación , Resorción Ósea/sangre , Resorción Ósea/fisiopatología , Difosfonatos/administración & dosificación , Quimioterapia Combinada , Femenino , Fémur/efectos de los fármacos , Fémur/metabolismo , Humanos , Inyecciones Intramusculares , Vértebras Lumbares/efectos de los fármacos , Vértebras Lumbares/metabolismo , Masculino , Persona de Mediana Edad , Osteoporosis/inducido químicamente , Osteoporosis/tratamiento farmacológico , Osteoporosis/metabolismo , Enfermedades Reumáticas/sangre , Enfermedades Reumáticas/complicaciones , Adulto Joven
18.
Funct Neurol ; 24(1): 45-52, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19403054

RESUMEN

Stroke is the third most common cause of death in women and a major cause of disability. Many aspects of stroke are similar in men and women, including clinical presentation, main risk factors, and distribution of the main subtypes. There are, however, some gender differences and specificities in stroke including some aspects related to treatment. Women are less likely to receive thrombolysis than men; however, in treated cases, the efficacy of intravenous thrombolysis is higher in women than in men. Hormone replacement therapy has been suggested as a possible strategy to reduce the occurrence of stroke in postmenopausal women but several clinical trials failed to show any benefit in stroke and cardiovascular disease prevention. Also in stroke prevention with antiplatelets there emerge some important gender differences: in primary prevention of stroke, aspirin was effective in women but not in men while in secondary prevention no gender differences were found with any of the available antiplatelet agents.


Asunto(s)
Fibrinolíticos/uso terapéutico , Identidad de Género , Inhibidores de Agregación Plaquetaria/uso terapéutico , Prevención Primaria/métodos , Accidente Cerebrovascular/tratamiento farmacológico , Accidente Cerebrovascular/prevención & control , Enfermedad Aguda , Aspirina/uso terapéutico , Femenino , Humanos , Masculino , Factores de Riesgo , Factores Sexuales , Accidente Cerebrovascular/terapia
19.
J Neurol ; 264(10): 2110-2118, 2017 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-28856460

RESUMEN

Pompe disease is an autosomal recessive disorder in which deficiency of the lysosomal enzyme acid alpha-glucosidase results in the accumulation of glycogen mostly in muscle tissues. Several reports suggest a higher incidence of intracranial vascular abnormalities (IVAs) in this condition, as well as brain microbleeds and cerebral vasculopathy. The aim of our study was to evaluate through neuroimaging studies the incidence of these anomalies in our cohort of late-onset Pompe disease (LOPD) patients asymptomatic for cerebrovascular disease, looking for correlations with clinical and genetic data. We studied 18 LOPD patients with brain magnetic resonance angiography (MRA), or contrast-enhanced computed tomography (CECT). Diameters of individual arteries were measured and compared with average values as proposed in the literature. We found IVAs in 13 of the 18 patients, mostly dilatative arteriopathy affecting the vertebrobasilar system. The anterior circle was involved in seven of the 18 patients. The diameter of the basilar artery at 1 cm was found to correlate both with age (spearman rho, p = 0.037) and disease duration (p = 0.004), but no other statistically significant correlation was documented. The incidence of intracranial dilatative arteriopathy in LOPD was higher than in the general population, confirming the literature data. However, we did not find intracranial aneurysms microbleeds or significant cerebrovascular disease. Abnormalities in the anterior and the posterior circle of Willis correlated with age and disease duration, but not with the severity of muscle/respiratory involvement or with genetic data. Further studies in larger cohorts of patients are needed to confirm these findings.


Asunto(s)
Encéfalo/diagnóstico por imagen , Trastornos Cerebrovasculares/etiología , Glucosiltransferasas/genética , Enfermedad del Almacenamiento de Glucógeno Tipo II , Adulto , Edad de Inicio , Anciano , Arteria Basilar/diagnóstico por imagen , Arteria Basilar/patología , Trastornos Cerebrovasculares/diagnóstico por imagen , Trastornos Cerebrovasculares/epidemiología , Femenino , Enfermedad del Almacenamiento de Glucógeno Tipo II/complicaciones , Enfermedad del Almacenamiento de Glucógeno Tipo II/diagnóstico por imagen , Enfermedad del Almacenamiento de Glucógeno Tipo II/genética , Humanos , Masculino , Metaloproteinasa 3 de la Matriz/genética , Persona de Mediana Edad , Mutación/genética , Neuroimagen , Estadística como Asunto
20.
Sci Rep ; 7(1): 16875, 2017 12 04.
Artículo en Inglés | MEDLINE | ID: mdl-29203902

RESUMEN

Injection of amniotic fluid stem cells (AFSC) delays the course of progression of renal fibrosis in animals with Alport Syndrome, enhancing kidney function and improving survival. The mechanisms responsible for these protective outcomes are still largely unknown. Here, we showed that vascular endothelial growth factor (VEGF) signaling within the glomeruli of Alport mice is strongly elevated early on in the disease, causing glomerular endothelial cell damage. Intraventricular injected AFSC that homed within the glomeruli showed strong modulation of the VEGF activity, particularly in glomerular endothelial cells. To investigate this phenomenon we hypothesized that extracellular vesicles (EVs) produced by the AFSC could be responsible for the observed renoprotection. AFSC derived EVs presented exosomal and stem cell markers on their surface membrane, including VEGFR1 and VEGFR2. EVs were able to modulate VEGF in glomerular endothelial cells by effectively trapping the excess VEGF through VEGFR1-binding preventing cellular damage. In contrast, VEGFR1/sVEGFR1 knockout EVs failed to show similar protection, thus indicating that VEGF trapping is a potentially viable mechanism for AFSC-EV mediated renoprotection. Taken together, our findings establish that EVs secreted by AFSC could target a specific signaling pathway within the glomerulus, thus representing a new potential glomerulus-specific targeted intervention.


Asunto(s)
Células Endoteliales/metabolismo , Vesículas Extracelulares , Células Madre/metabolismo , Líquido Amniótico/citología , Animales , Células Cultivadas , Técnicas de Cocultivo , Creatinina/sangre , Modelos Animales de Enfermedad , Células Endoteliales/citología , Células Endoteliales/efectos de los fármacos , Vesículas Extracelulares/metabolismo , Glomérulos Renales/citología , Ratones , Nefritis Hereditaria/metabolismo , Nefritis Hereditaria/patología , Proteinuria/patología , Transducción de Señal , Células Madre/citología , Factor A de Crecimiento Endotelial Vascular/farmacología , Receptor 1 de Factores de Crecimiento Endotelial Vascular/metabolismo , Receptor 2 de Factores de Crecimiento Endotelial Vascular/metabolismo
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