RESUMO
Even in the era of technology-guided medicine, the clinician must integrate into his daily practice a careful anamnesis and physical examination to be conducted within a close doctor-patient relationship. All these elements, together with tools such as teleconsultation and digitalized medical records, are able to significantly increase the effectiveness of health care action.
RESUMO
PURPOSE: The anatomical proximity of the styloid process (SP) to the ipsilateral internal carotid artery (ICA) has been recently recognized as a possible risk factor for carotid artery dissection (CAD). We aimed to verify this hypothesis by comparing the minimum distance between SP and ICA in young adult patients (< 55 years) with and without CAD. METHODS: Thirty-one CAD patients (cases) were compared with 41 sex-matched patients without dissection, group one of control (G1), and with 16 sex-matched patients with vertebral artery dissection (VAD), group two of control (G2). Two independent observers measured, on CT angiography images, the minimum distance on the axial plane between the SP and ICA in cases and controls. They evaluated both the intercentric and the marginal distance. Differences between groups were estimated by Student t-test. RESULTS: SP-ICA intercentric distance ipsilateral to dissection was significantly shorter compared to that of the contralateral side of cases (p < 0.001), to those of left and right side of G1 patients (p < 0.001 for both), and to those of left and right side of G2 patients (p < 0.001 for both). SP-ICA marginal distance of cases was significantly shorter compared to those of left and right side of G1 patients (p < 0.001 for both) and to those of left and right side of G2 patients (p < 0.001 for both). CONCLUSION: A short SP-ICA distance appears to be a risk factor for CAD as it likely induces a continuous microtraumatism of the vessel wall during normal head and neck movements.
Assuntos
Dissecação da Artéria Carótida Interna , Artéria Carótida Interna , Adulto Jovem , Humanos , Estudos de Casos e Controles , Artéria Carótida Interna/diagnóstico por imagem , Dissecação da Artéria Carótida Interna/diagnóstico por imagem , Tomografia Computadorizada por Raios X/métodos , Fatores de RiscoRESUMO
The aim of this study was to evaluate the performance of a pen-type laser fluorescence (LF) device (LFpen: DIAGNOdent pen) to detect and monitor the progression of caries-like lesions on smooth surfaces. Fifty-two bovine enamel blocks were submitted to three different demineralisation cycles for caries-like lesion induction using Streptococcus mutans, Lactobacillus casei and Actinomyces naeslundii. At baseline and after each cycle, the enamel blocks were analysed under Knoop surface micro-hardness (SMH) and an LFpen. One enamel block after each cycle was randomly chosen for Raman spectroscopy analysis. Cross-sectional micro-hardness (CSMH) was performed at different depths (20, 40, 60, 80 and 100 µm) in 26 enamel blocks after the second cycle and 26 enamel blocks after the third cycle. Average values of SMH (± standard deviation (SD)) were 319.3 (± 21.5), 80.5 (± 31.9), 39.8 (± 12.7), and 29.77 (± 10.34) at baseline and after the first, second and third cycles, respectively. Statistical significant difference was found among all periods (p < 0.01). The LFpen values were 4.3 (± 1.5), 7.5 (± 9.4), 7.1 (± 7.1) and 5.10 (± 3.58) at baseline and after the first, second, and third cycles, respectively, among all periods (p < 0.05). The CSMH values after the second and third cycles at 20, 40, 60, 80 and 100 µm were 182.8 (± 69.8), 226.1 (± 79.6), 247.20 (± 69.36), 262.35 (± 66.36) and 268.45 (± 65.49), and for the third cycle were 193.7 (± 73.4), 239.5 (± 81.5), 262.64 (± 82.46), 287.10 (± 78.44) and 284.79 (± 72.63) (n = 24 and 23), respectively. No correlation was observed between the LFpen and SMH values (p > 0.05). One sample of each cycle was characterised through Raman spectroscopy analysis. It can be concluded that LF was effective in detecting the first demineralisation on enamel; however, the method did not show any effect in monitoring lesion progression after three cycles of in vitro demineralisation.
Assuntos
Cárie Dentária/diagnóstico , Cárie Dentária/patologia , Progressão da Doença , Fluorescência , Lasers , Análise de Variância , Animais , Bovinos , Esmalte Dentário/patologia , Dureza , Humanos , Análise Espectral Raman , Propriedades de Superfície , Desmineralização do DenteRESUMO
Modern techniques as ion beam therapy or 4D imaging require precise target position information. However, target motion particularly in the abdomen due to respiration or patient movement is still a challenge and demands methods that detect and compensate this motion. Ultrasound represents a non-invasive, dose-free and model-independent alternative to fluoroscopy, respiration belt or optical tracking of the patient surface. Thus, ultrasound based motion tracking was integrated into irradiation with actively scanned heavy ions. In a first in vitro experiment, the ultrasound tracking system was used to compensate diverse sinusoidal target motions in two dimensions. A time delay of â¼200 ms between target motion and reported position data was compensated by a prediction algorithm (artificial neural network). The irradiated films proved feasibility of the proposed method. Furthermore, a practicable and reliable calibration workflow was developed to enable the transformation of ultrasound tracking data to the coordinates of the treatment delivery or imaging system - even if the ultrasound probe moves due to respiration. A first proof of principle experiment was performed during time-resolved positron emission tomography (4DPET) to test the calibration workflow and to show the accuracy of an ultrasound based motion tracking in vitro. The results showed that optical ultrasound tracking can reach acceptable accuracies and encourage further research.
Assuntos
Fracionamento da Dose de Radiação , Movimento , Radioterapia Guiada por Imagem/métodos , Respiração , Ultrassom , Radioterapia com Íons Pesados , Tomografia por Emissão de Pósitrons , Radioterapia Guiada por Imagem/instrumentaçãoRESUMO
PURPOSE: The use of motion mitigation techniques such as tracking and gating in particle therapy requires real-time knowledge of tumor position with millimeter precision. The aim of this phantom-based study was to evaluate the option of diagnostic ultrasound (US) imaging (sonography) as real-time motion detection method for scanned heavy ion beam irradiation of moving targets. METHODS: For this pilot experiment, a tumor surrogate was moved inside a water bath along two-dimensional trajectories. A rubber ball was used for this purpose. This ball was moved by a robotic arm in two dimensions lateral to the heavy ion beam. Trajectories having a period of 3 s and peak to peak amplitude of 20 mm were used. Square radiation fields of[Formula: see text] were irradiated on radiosensitive films with a 200 MeV/u beam of calcium ions having a FWHM of 6 mm. Pencil beam scanning and beam tracking were employed. The films were attached on the robotic arm and thus moved with the rubber ball. The position of the rubber ball was continuously measured by a US tracking system (Mediri GmbH, Heidelberg) and sent to the GSI therapy control system (TCS). This position was used as tracking vector. Position reconstruction from the US tracking system and data communication introduced a delay leading to a position error of several millimeters. An artificial neural network (ANN) was implemented in the TCS to predict motion from US measurements and thus to compensate for the delay. RESULTS: Using ANN delay compensation and large motion amplitudes, the authors could produce irradiation patterns with a few percent inhomogeneity and about 1 mm geometrical conformity. CONCLUSIONS: This pilot experiment suggests that diagnostic US should be further investigated as dose-free, high frame-rate, and model-independent motion detection method for scanning heavy ion beam irradiation of moving targets.
Assuntos
Radioterapia com Íons Pesados/métodos , Movimento , Neoplasias/diagnóstico por imagem , Neoplasias/radioterapia , Neoplasias/fisiopatologia , Redes Neurais de Computação , UltrassonografiaRESUMO
Testicular germ-cell tumors are the most common solid tumor in young men, with an incidence peak between the ages of 20 and 35 years. Even if rare, arterial thromboembolism is a serious and possible complication during cisplatin-based chemotherapy in young patients. The strong association between rapid treatment and favorable outcome is well known. Oncologists need to recognize the symptoms and to alert a stroke unit as soon as possible. We report the management of a young patient affected by non seminomatous testicular neoplasm without cardiovascular risk factors who developed an ischemic stroke during cisplatin-based treatment. We also review the relevant literature.
Assuntos
Antineoplásicos/efeitos adversos , Isquemia Encefálica/induzido quimicamente , Cisplatino/efeitos adversos , Neoplasias Embrionárias de Células Germinativas/tratamento farmacológico , Acidente Vascular Cerebral/induzido quimicamente , Neoplasias Testiculares/tratamento farmacológico , Adulto , Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Cisplatino/uso terapêutico , Humanos , MasculinoRESUMO
OBJECTIVES: To analyze the sexuality of Italian menopausal women. DESIGN: Cross-sectional study. POPULATION: Menopausal women consecutively observed during the study period in menopause clinics. METHODS: Women were interviewed about their current and premenopausal sexual activity: sexual intercourse frequency and self-rated sexual desire, capacity for orgasm and sexual satisfaction were recorded. Women were defined as having poor sexual functioning if they had one or less sexual intercourses per week or answered 'absent/poor' to the questions about the sexual domains. RESULTS: Oral hormone therapy (HT) use (odds ratio (OR) 0.43 for desire, 0.54 for orgasm and 0.56 for overall sexual satisfaction, all p < 0.001) and transdermal HT (OR 0.38, 0.53 and 0.53, respectively, all p < 0.001) were significantly associated with lower risk of poor sexual functioning. Higher physical and mental component scores (PCS and MCS, range 0-100) of the Short Form-12 are inversely related to poor sexual functioning (OR by point 0.96, 0.95, 0.95 for PCS and 0.96, 0.96 and 0.95, for MCS, respectively, all p < 0.001). Pain during and symptoms after sexual intercourse were significantly related to desire (OR 1.96 and 1.78, respectively), orgasm (OR 2.22 and 2.06, respectively) and sexual satisfaction (OR 2.02 and 1.79, respectively). The partner's health problems were associated with low sexual intercourse frequency (OR 4.18, p < 0.001) and absent/poor overall satisfaction (OR 2.61, p < 0.001). CONCLUSIONS: This study shows that, in menopausal Italian women attending menopause clinics, sexual function is associated with the quality of sexual life in reproductive age, partner's health status, current quality of life, HT and occurrence of pain during and symptoms after sexual intercourse.
Assuntos
Menopausa , Qualidade de Vida , Comportamento Sexual/estatística & dados numéricos , Disfunções Sexuais Psicogênicas/epidemiologia , Saúde da Mulher , Adulto , Estudos Transversais , Feminino , Humanos , Itália/epidemiologia , Libido , Estilo de Vida , Pessoa de Meia-Idade , Comportamento Sexual/psicologia , Disfunções Sexuais Psicogênicas/psicologia , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: To report the characteristics of patients suspected to have cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) but in whom no NOTCH3 gene pathogenic mutation was found. METHODS: Between 2002 and 2008, we performed NOTCH3 gene analysis (exons 2-23) in 81 probands because CADASIL was clinically suspected. A retrospective analysis and comparison of clinical, familial, and neuroimaging features of patients with and without pathogenic mutations was performed. RESULTS: CADASIL was diagnosed in 16/81 (20%) probands by finding a mutation leading to a cysteine substitution within the epidermal growth factor (EGF)-like repeats of the NOTCH3 receptor. In the remaining 65 patients, no pathogenic mutation was found. Some features were significantly (Fisher exact test p < 0.05) more frequent in CADASIL than in NOTCH3-negative patients: history of migraine (73 vs 39%), stroke before the age of 60 among relatives (71 vs 32%), severe leukoencephalopathy (94 vs 62%), white matter changes extended to the anterior temporal lobes (93 vs 45%), external capsule involvement (100 vs 50%), and presence of lacunar infarcts (100 vs 65%). The frequency of vascular risk factors was balanced between the 2 groups. No feature was peculiar to either group. CONCLUSIONS: Although certain clinical and neuroimaging features are more frequent in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) than in NOTCH3-negative patients, none is pathognomonic. Clinicians should be aware that when diagnosing CADASIL, a number of patients with a cerebral disease phenotypically similar to CADASIL emerge. The genetic profile of these diseases and the full phenotypic difference with CADASIL remain to be further defined.
Assuntos
CADASIL , Imageamento por Ressonância Magnética , Mutação/genética , Receptores Notch/genética , Adulto , Idoso , Infarto Encefálico/patologia , CADASIL/complicações , CADASIL/genética , CADASIL/patologia , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/patologia , Análise Mutacional de DNA , Éxons/genética , Saúde da Família , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/patologia , Receptor Notch3 , Estudos Retrospectivos , Fatores de Risco , Acidente Vascular Cerebral/patologiaRESUMO
BACKGROUND: It is well known that increasing age is the strongest risk factor of stroke. Therefore, it has been a common belief in many countries including Finland that the numbers of stroke patients will increase considerably during the next two decades because the population is rapidly ageing. METHODS: The FINMONICA and FINSTROKE registers operated in Finland in the Kuopio area and city of Turku from 1983 to 1997. The results showed that the incidence, mortality and case fatality of stroke declined significantly during that period. Importantly, it was established that the trends in incidence and mortality were also declining among the elderly (>74 years). We used these results to create a model for the entire country. The model was based on the trends present in these registers from Turku and Kuopio area and age-specific population projections up to the year 2030 that were obtained from Statistics Finland. RESULTS: In the year 2000, the number of new first stroke cases was estimated to be 11 500. If the declining trend were to level off totally after the year 2000, the number of new strokes would be 20 100 in the year 2030 due to the ageing of the population. It would be 12 100 if the trend continued as favourable as during the years 1983-1997. CONCLUSIONS: Ageing of the population will not inevitably increase the burden of stroke in Finland if the present declining trends are maintained, but the annual number of cases will almost double if the incidence remains at the level of the year 2000.
Assuntos
Envelhecimento/fisiologia , Efeitos Psicossociais da Doença , Acidente Vascular Cerebral , Adulto , Distribuição por Idade , Fatores Etários , Idoso , Envelhecimento/patologia , Feminino , Finlândia/epidemiologia , Humanos , Incidência , Tábuas de Vida , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Modelos Teóricos , Dinâmica Populacional , Vigilância da População , Fatores de Risco , Fatores Sexuais , Acidente Vascular Cerebral/diagnóstico , Acidente Vascular Cerebral/epidemiologia , Acidente Vascular Cerebral/prevenção & controleRESUMO
Diseases gain identity from clinical phenotype as well as genetic and environmental aetiology. The definition of type 1 diabetes is clinically exclusive, comprising patients who are considered insulin dependent at diagnosis, whilst the definition of type 2 diabetes is inclusive, only excluding those who are initially insulin dependent. Ketosis-prone diabetes (KPD) and latent autoimmune diabetes in adults (LADA) are each exclusive forms of diabetes which are, at least initially, clinically distinct from type 2 diabetes and type 1 diabetes, and each have a different natural history from these major types of diabetes.KPD can be diagnosed unequivocally as diabetes presenting with the categorical clinical feature, ketoacidosis. In contrast, LADA can be diagnosed by the co-occurrence of three traits, not one of which is categorical or exclusive to the condition: adult-onset non-insulin-requiring diabetes, an islet autoantibody such as glutamic acid decarboxylase autoantibodies (GADA) or cytoplasmic islet cell autoantibodies (ICA), and no need for insulin treatment for several months post-diagnosis. But while some would split diabetes into distinct subtypes, there is a strong case that these subtypes form a continuum of varying severity of immune and metabolic dysfunction modified by genetic and non-genetic factors. This article discusses the nature of disease classification in general, and KPD and LADA in particular, emphasizing the potential value and pitfalls in classifying diabetes and suggesting a need for more research in this area.
Assuntos
Doenças Autoimunes/classificação , Diabetes Mellitus Tipo 1/classificação , Diabetes Mellitus Tipo 2/classificação , Adulto , Autoanticorpos/análise , Doenças Autoimunes/genética , Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/genética , Cetoacidose Diabética/classificação , Cetoacidose Diabética/genética , Predisposição Genética para Doença , Glutamato Descarboxilase/imunologia , Humanos , Insulina/metabolismo , Resistência à Insulina/genética , Secreção de Insulina , Ilhotas Pancreáticas/imunologiaRESUMO
AIMS/HYPOTHESIS: The aim of this study was to examine the effects of birth order and parental age on the risk of type 1 and type 2 diabetes among Finnish individuals aged 15-39 years. METHODS: Data on all cases of type 1 diabetes (n = 1,345) and type 2 diabetes (n = 1,072), diagnosed between 1992 and 1996, were collected from four sources: standardised national reports from diabetes nurses, the National Hospital Discharge Register, the Drug Prescription Register and the Drug Reimbursement Register. Information on matched controls and the family members of all study subjects were obtained from the National Population Registry. The odds ratios (ORs) for both types of diabetes were estimated using a conditional logistic regression model. RESULTS: There was a U-shaped relationship between maternal age and the risk of type 2 diabetes in the offspring: the risk was higher in children born to young and old mothers compared with children born to mothers aged around 30 years. The children born second (OR 0.76, 95% CI 0.62-0.94), third (OR 0.73, 95% CI 0.55-0.95), or fourth (OR 0.66, 95% CI 0.47-0.94) had a lower risk of type 2 diabetes than the first-born children. Maternal age, paternal age, and birth order did not have an effect on the risk of type 1 diabetes in the individuals aged 15-39 years at the time of diagnosis. CONCLUSIONS/INTERPRETATION: Maternal age and birth order are both associated with the risk of early-onset type 2 diabetes. However, part of these associations may be due to low birthweight. In this study neither parental age nor birth order showed a significant association with the risk of type 1 diabetes diagnosed after 15 years of age.
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Ordem de Nascimento , Diabetes Mellitus Tipo 1/etiologia , Diabetes Mellitus Tipo 2/etiologia , Pais , Adolescente , Adulto , Idade de Início , Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Humanos , Sistema de Registros , Fatores de RiscoRESUMO
Diabetic nephropathy (DN) is the primary cause of morbidity and mortality in patients with type 1 as well as type 2 diabetes, and accounts for 40% of end-stage renal disease in the Western world. Familial clustering of DN suggests importance of genetic factors in the development of the disease. In the present study, we performed a two-stage genome-wide scan to search for chromosomal loci containing susceptibility genes for nephropathy in patients with type 1 diabetes. In total, 83 discordant sib pairs (DSPs), sibs concordant for type 1 diabetes but discordant for nephropathy, were collected from Finland, a homogeneous population with one of the highest incidences of type 1 diabetes. To map loci for DN, we applied DSP analysis to detect linkage. In the initial scan, 73 DSPs were typed using 900 markers with an average intermarker distance of approximately 4 cM. Multipoint DSP analysis identified five chromosome regions (3q, 4p, 9q, 16q, and 22p) with maximum logarithm of odds (LOD) score (MLS) >or=1.0 (corresponding to a nominal P-value Assuntos
Cromossomos Humanos Par 3/genética
, Diabetes Mellitus Tipo 1/complicações
, Nefropatias Diabéticas/genética
, Ligação Genética
, Predisposição Genética para Doença
, Adolescente
, Adulto
, Criança
, Feminino
, Finlândia
, Testes Genéticos
, Genoma Humano/genética
, Humanos
, Masculino
RESUMO
AIMS/HYPOTHESIS: The aim of this study was to compare the magnitude of the effect of diabetes and stroke at baseline and during follow-up on risk of stroke mortality. MATERIALS AND METHODS: Study cohorts included 25,155 Finnish men and 26,423 women aged 25-74 years. Data on diabetes and stroke history at baseline, their incidence during follow-up, and stroke death were obtained from national registers. RESULTS: During a mean follow-up of 18.9 years, 838 stroke deaths were recorded. In the baseline study, hazard ratios (HRs) for stroke mortality were 5.26 for men with prior diabetes only, 4.76 for men with prior stroke only, and 13.4 for men with both prior diabetes and stroke compared with men without diabetes and stroke at baseline and during follow-up. In women, the corresponding hazard ratios were 7.29, 5.27 and 5.52, respectively. When only diabetes and stroke status during the follow-up were considered, the hazard ratios for stroke mortality were 1.41 for men and 1.56 for women with incident diabetes only, 5.62 for men and 5.58 for women with incident stroke only, and 5.59 for men and 4.48 for women with both incident diabetes and stroke compared with men and women without diabetes and stroke at baseline and during follow-up. CONCLUSIONS/INTERPRETATION: Diabetes and stroke, present either at baseline or during follow-up, markedly increase the risk of stroke death. Prior stroke at baseline carries a similar risk of stroke mortality as prior diabetes. There is a greater risk of stroke mortality associated with incident stroke during follow-up than with incident diabetes.
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Diabetes Mellitus Tipo 2/complicações , Acidente Vascular Cerebral/mortalidade , Adulto , Idoso , Pressão Sanguínea , Índice de Massa Corporal , Colesterol/sangue , Estudos de Coortes , Estudos Transversais , Diabetes Mellitus Tipo 2/epidemiologia , Diabetes Mellitus Tipo 2/mortalidade , Diabetes Mellitus Tipo 2/fisiopatologia , Feminino , Finlândia/epidemiologia , Seguimentos , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Acidente Vascular Cerebral/epidemiologia , Análise de SobrevidaRESUMO
AIM: Vaginal intraepithelial neoplasia (VaIN) is an uncommon and poorly understood disease. Risk factors other than human papillomavirus (HPV) infection could be linked to the onset and evolution of some VaIN. METHODS: In this paper, the results achieved from the analysis of 75 patients with VaIN are reported. From these cases, women with HIV, previous hysterectomy, autoimmune diseases and radio- and chemotherapy have been excluded. Thus, most of these selected cases should be linked to the HPV infection. They have been examined after a distinction between grade and association with coilocytosis. VaIN preferential localization, mean age of patients and manifestation pattern after vaginal colposcopy have then been examined. RESULTS: Although the population size cannot allow evidences, it seems that VaIN with coilocytosis and VaIN I without coilocytosis have preferential localization in the upper third of the vagina. It does not appear that mean age of patients for each grade of VaIN differs significativly, both associated and not associated with coilocytosis. Finally, after vaginal colposcopy, the pattern of VaIN for each grade is absolutely not typical, and it seems that white thin epithelium or negative Lugol area are usually the manifestation of high grades of VaIN too. CONCLUSIONS: These results, if confirmed, could mean that VaIN due to HPV may have a different natural history relating to the site of localization in the vagina and, moreover, that also VaIN of high grade could appear with an innocent vaginal pattern.
Assuntos
Carcinoma in Situ/complicações , Carcinoma in Situ/patologia , Papillomaviridae , Infecções por Papillomavirus/complicações , Infecções por Papillomavirus/patologia , Neoplasias Vaginais/complicações , Neoplasias Vaginais/patologia , Adulto , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
The presence of large vessels malformations has not been reported in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We describe a CADASIL patient in whom a brain cerebellar arteriovenous malformation was revealed by magnetic resonance (MR) imaging. An MR angiogram documented also an aneurysm along the right intracranial vertebral artery at the junction with the posterior-inferior cerebellar artery. The aneurysm was successfully treated by means of endovascular coil embolization. No neurological complication occurred in our patient during the angiographic procedure. In this case, in addition to an incidental coexistence of CADASIL and large vessels abnormalities, a causal role of the Notch pathway alteration could be hypothesized. Dysregulation of the Notch pathway is linked to several human diseases besides CADASIL. In one of these (the Alagille syndrome) intracranial aneurysms are reported. This hypothesis contrasts however with the absence of similar reports in other CADASIL cases and needs corroboration in large series.
Assuntos
CADASIL/patologia , Cerebelo/irrigação sanguínea , Aneurisma Intracraniano/patologia , Malformações Arteriovenosas Intracranianas/patologia , Artéria Vertebral/patologia , Adulto , Angiografia Cerebral , Feminino , Humanos , Imageamento por Ressonância MagnéticaRESUMO
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a cause of hereditary cerebrovascular disease. It results from mutations in the Notch3 gene, a large gene with 33 exons. A cluster of mutations around exons 3 and 4 was originally reported and limited scanning of these exons was suggested for the diagnosis in most cases. OBJECTIVE: To report Notch3 mutation analysis in 28 unrelated Italian CADASIL families from central and south Italy. RESULTS: The highest rate of mutations was found in exon 11 (21%) and only 18% of mutations were in exon 4. This may be related to the peculiar distribution of Notch3 mutations in the regions of origin of the families. CONCLUSIONS: The results suggest that limited scanning of exons 3 and 4 is inadvisable in CADASIL cases of Italian origin.
Assuntos
CADASIL/genética , Mutação Puntual/genética , Proteínas Proto-Oncogênicas/genética , Receptores de Superfície Celular/genética , CADASIL/etnologia , Análise Mutacional de DNA , Primers do DNA/genética , Éxons/genética , Biblioteca Genômica , Humanos , Itália , Reação em Cadeia da Polimerase , Receptor Notch3 , Receptores NotchRESUMO
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetically transmitted cerebrovascular disease. Typically, the first clinical manifestation is migraine and the full clinical spectrum of the disease with recurrent strokes of the subcortical type, cognitive, and mood disorders is seen during the fourth and fifth decades of life. Vascular risk factors are usually absent in CADASIL patients and the diagnosis of the disease is particularly suspected in young adults with cerebrovascular events of unknown cause, diffuse leukoencephalopathy on computed tomography or magnetic resonance imaging, and a history of cerebrovascular diseases or dementia in many family members. We describe three Italian CADASIL patients who presented to medical attention for cerebrovascular events occurred after the age of 55 and had, in addition to hypertension and hyperlipidemia, thrombophilic risk factors such as hyperhomocysteinemia, elevated levels of lipoprotein(a), and antiphospholipid antibodies. Symptoms possibly related to cortical involvement, such as dysphasia and visual field deficits, were reported by two of these patients. We conclude that a diagnosis of CADASIL should not be disregarded in patients with vascular risk factors and presenting with symptoms not immediately referable to subcortical damage at ages more advanced than commonly reported.
Assuntos
CADASIL/complicações , Trombofilia/etiologia , Idoso , Encéfalo/patologia , CADASIL/epidemiologia , CADASIL/fisiopatologia , Transtornos Cerebrovasculares/epidemiologia , Transtornos Cerebrovasculares/etiologia , Feminino , Humanos , Itália/epidemiologia , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Fatores de Risco , Trombofilia/epidemiologia , Trombofilia/fisiopatologiaRESUMO
OBJECTIVE: The purpose of this study was to develop a self-administered, patient-based questionnaire to assess loss of sexual desire and associated symptoms in postmenopausal women with hypoactive sexual desire disorder (HSDD) experiencing distress. DESIGN: Preliminary items and domains of sexual function were identified through individual and focus group interviews with postmenopausal women in the United States and Europe. A subset of items was selected for translation and further analysis. Cognitive interviews were conducted with women with HSDD and non-HSDD women in eight countries to ensure items would have the same meaning in seven languages. The resulting instrument was tested in 325 oophorectomized women with HSDD and 255 age-matched nonoophorectomized control women in the United States, Canada, Europe, and Australia. RESULTS: Psychometric item reduction analyses resulted in 37 items organized into seven domains characterizing female sexual function in postmenopausal women with HSDD. Excellent reliability and validity of the domains of the Profile of Female Sexual Function (PFSF) were observed in all geographic areas tested. Statistically significant differences between oophorectomized women with low libido and control women were found for all domains and all geographic areas. CONCLUSIONS: The PFSF is a new instrument specifically designed for measurement of sexual desire in oophorectomized women with low libido. Robust psychometric properties have been established in a large number of geographic regions and languages, making it useful for assessing therapeutic change in multinational clinical trials.
Assuntos
Libido , Ovariectomia , Disfunções Sexuais Psicogênicas/diagnóstico , Inquéritos e Questionários , Adulto , Idoso , Análise Fatorial , Feminino , Indicadores Básicos de Saúde , Humanos , Pessoa de Meia-Idade , Psicometria , Reprodutibilidade dos TestesRESUMO
OBJECTIVES: The aim of this cross-sectional study was to describe QoL in a large sample of women attending menopause centres and compare untreated postmenopausal women and matched HRT users by employing the Women's Health Questionnaire (WHQ) and two generic instruments, the SF-36 and the EQ-5D. METHODS: Overall, 2906 women were recruited by 64 menopause centres throughout Italy, of whom 2160 filled in the questionnaire (1093 on HRT and 1067 not on HRT; response rate: 74%). RESULTS: HRT users tended to be younger, healthier and with shorter menopause duration as opposed to non users, while no major socio-economic differences were present. At multivariate analysis, the presence of chronic diseases, low socio-economic status and living in Southern Italy represented the most important predictors of poor QoL. Furthermore, HRT users showed a lower probability of reporting problems in usual activities and pain/discomfort (EQ-5D), role limitations due to emotional problems (SF-36) and anxiety/fears (WHQ). HRT users also showed highly significant better outcomes in those areas that are more directly attributable to hormonal changes of mid age, namely vasomotor symptoms and sexual problems. CONCLUSIONS: Although QoL is mainly influenced by socio-economic and cultural factors, HRT has the potential for improving not only symptoms, but also more general aspects of physical and psychological well-being of symptomatic postmenopausal women.
Assuntos
Terapia de Reposição de Estrogênios , Menopausa , Qualidade de Vida , Feminino , Nível de Saúde , Humanos , Itália , Pessoa de Meia-Idade , Análise Multivariada , Psicometria , Fatores Socioeconômicos , Inquéritos e QuestionáriosRESUMO
OBJECTIVES: The Women's Health Questionnaire has been developed and validated in Anglo-Saxon and Swedish populations. The purpose of this study was to evaluate the Italian version of the questionnaire to determine whether cross-cultural differences exist in the perception of quality of life, and to use it to compare the quality of life in women attending menopause centers with that of women in the general population. METHODS: An Italian version of the Women's Health Questionnaire (WHQ) was produced, using the forward-backward translation method to ensure conceptual equivalence, and approved by the originator. Women were recruited by random selection from the general population and from menopause centers, those taking hormone replacement therapy being ineligible. The questionnaire was completed anonymously at home and mailed to the co-ordinating center. Psychometric evaluation included tests of item convergent and discriminant validity, internal-consistency reliability, test-retest reliability, construct validity and the discriminative properties of the questionnaire. RESULTS: The completeness of the data was good, with missing-value rates consistently low for most items. Item-scale correlations, used to evaluate internal consistency, were also good and the scaling success rate, used to measure item discriminant validity, was high for all scales. Scale scores were reliable for seven out of nine scales and test-retest reliability was excellent. There were few significant differences between the two populations of women in most of the WHQ areas. A comparison of Italian data with published data on English women showed great similarity. CONCLUSION: The Italian version of the WHO is valid and reproducible. The subjective perception of the menopause and its related problems is similar in geographically and culturally different populations.