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OBJECTIVE: The purpose of this study was to evaluate the effects of pre- and post-irradiation application on the shear bond strength of self-adhesive luting cements to dentin and enamel. MATERIALS AND METHODS: Thirty-two extracted human maxillary incisor teeth were used in this study. Teeth were divided into two main groups according to preparation depth (0.5 mm and 1 mm) as Group E and Group D and were divided into four subgroups according to treatment protocol (n = 12). Teeth were irradiated and preparation was done after radiation. Adhesive luting cement was placed on the irradiated enamel and dentin surface (Groups E1, D1). Preparation was done before irradiation and resin cement was placed on the irradiated enamel and dentin surface (Groups E2, D2). The resin cement was first placed on their enamel and dentin surfaces and then the specimens were irradiated (Groups E3, D3). Irradiation was done with a total dose of 60 Gy, applied in fractions over 6 weeks for each groups (2-Gy/day fractions, 5 days per week). Nonirradiated groups were determined as controls groups (Groups C1, C2). The shear bond strengths of adhesive luting cement were examined. RESULTS: According to the two-way ANOVA results, depth of preparation and treatment protocol and their interactions were significant on shear bond strength of resin cement (P Conclusions: This study detected significant differences between the irradiated and nonirradiated groups, probably due to the changes in the crystalline structure of dental hard tissues.
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Esmalte Dentário/efeitos da radiação , Dentina/efeitos da radiação , Cimentos de Resina , Resistência ao Cisalhamento/efeitos da radiação , Colagem Dentária , Análise do Estresse Dentário , Humanos , Teste de Materiais , Propriedades de Superfície/efeitos da radiaçãoRESUMO
PURPOSE: Breast cancer incidence increases in the elderly but data on treatment and outcomes of elderly patients is limited. We assessed the clinicopathological features and outcomes of our patients with breast cancer aged ≥80 years in comparison with their younger postmenopausal counterparts. METHODS: The records of 83 patients diagnosed with breast cancer after the age of 80 (group 1) between 2003 and 2011 in 4 different centers were retrospectively evaluated and the clinicopathological features and outcomes were assessed in comparison with a control group (group 2) of 249 patients aged between 60-70 years. RESULTS: Median ages at diagnosis were 82 years (range 80-95) and 64 years (range 60-70) for group 1 and group 2, respectively. The incidence of invasive cancers other than ductal or lobular type was higher in group 1 than in group 2 (20 vs 8%; p=0.0177rpar;. More patients in group 1 had Charlson Comorbidty scores ≥1 than those in group 2 (49 vs 36%; p=0.011). Patients in group 1 had more conservative operations and less axillary node dissections (ALND) and they received chemotherapy, trastuzumab or radiotherapy less frequently compared to their younger counterparts in group 2. Median follow up period was 36 months (range 1-178) in group 1 and 24 months (range 12-217) in group 2. Five-year disease free survival (DFS) was 53.7 and 75.9) (p=0.005), 5-year overall survival (OS) was 61.9% and 80.47percnt; in group 1 and group 2 (p=0.001), respectively. Advanced stage (stage IV vs stage I, II, III, p=0.051) and cerbB2 positivity (p<0.001) were found to be associated with shorter DFS in patients ≥80 years of age. CONCLUSION: Although the majority of patients were undertreated in our study according to the current guidelines, mortality rates were quite low. Different biology of the disease in the elderly might explain this difference.
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Neoplasias da Mama/patologia , Neoplasias da Mama/terapia , Mastectomia , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Neoplasias da Mama/epidemiologia , Quimioterapia Adjuvante , Distribuição de Qui-Quadrado , Comorbidade , Intervalo Livre de Doença , Feminino , Humanos , Estimativa de Kaplan-Meier , Excisão de Linfonodo , Mastectomia/efeitos adversos , Mastectomia/métodos , Mastectomia/mortalidade , Pessoa de Meia-Idade , Análise Multivariada , Invasividade Neoplásica , Estadiamento de Neoplasias , Radioterapia Adjuvante , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Turquia/epidemiologiaRESUMO
PURPOSE: The aim of this study was to assess the changes in biologic markers of breast cancer ER, PR, HER 2 and Ki-67 in locally advanced breast cancer patients after neoadjuvant chemotherapy. METHODS: Data from 63 locally advanced breast cancer patients (stage II or III), whose histological diagnosis was made by core biopsies were retrospectively evaluated. The patients were given 4 cyles of 600 mg/m(2) cyclophosphamide, 60 mg/m(2) doxorubicin every 15 days followed by 4 cycles of paclitaxel 175 mg/m(2) every 15 days, and they underwent surgery within two weeks after the last chemotherapy cycle. Expressions in the preoperative and postoperative status of ER, PR, HER 2 and Ki-67 were compared. RESULTS: The patient mean age was 49.2 ±10.7 years and most (57.1%) were premenopausal. Clinical stages of patients ranged between T2N1 and T3N2. The pathological complete response (pCR) rate was 14.9 % (N=9). Two (5.7%) patients who were ER positive prior to treatment showed ER negativity after treatment. In 7 (21.17percnt;) patients PR became negative after neoadjuvant chemotherapy and in 3 (9.0%) patients PR became positive. Changes in ER and PR receptors were not statistically significant (ER p=0.500 and PR p=0.549, respectively), whereas in 2 (5. 8%) patients hormonal status changed significantly when compared to initial biopsies (p=0.003). In addition, median value for PR intensity decreased from 20 to 10% (p=0.003) and Ki-67 values decreased from 10 to 1% (p<0.001) following neoadjuvant therapy. Six (17%) patients exhibited some changes in HER 2 staining. HER 2 expression became 2+ in 3 patients who were HER 2 negative prior to treatment, and HER 2 expression became negative in two patients with HER 2 1+ and 2+ prior to treatment following neoadjuvant chemotherapy. CONCLUSION: The biological markers ER, PR, HER 2 and Ki- 67 index demonstrated differences after neoadjuvant treatment in breast cancer patients. These changes may affect the treatment decision.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Mama/química , Neoplasias da Mama/tratamento farmacológico , Antígeno Ki-67/análise , Terapia Neoadjuvante , Receptor ErbB-2/análise , Receptores de Estrogênio/análise , Receptores de Progesterona/análise , Adulto , Biópsia , Neoplasias da Mama/patologia , Quimioterapia Adjuvante , Ciclofosfamida/administração & dosagem , Doxorrubicina/administração & dosagem , Feminino , Humanos , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Paclitaxel/administração & dosagem , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: To assess the changes of biologic markers estrogen receptors (ER), progesterone receptors (PR), HER 2 and Ki-67 in locally advanced breast cancer patients after neoadjuvant chemotherapy. METHODS: Data from 63 locally advanced breast cancer patients (stage II or III), whose histological diagnosis was made by core biopsies were retrospectively evaluated. The patients were given 4 cycles of 600 mg/m(2) cyclophosphamide, 60 mg/m(2) doxorubicin every 15 days, followed by 4 cycles of paclitaxel 175 mg/m(2), followed by mastectomy within 2 weeks after the last chemotherapy cycle. The changes in ER, PR, HER 2 and Ki-67 status of the operated tumor tissue were compared with the material obtained by initial core biopsies. RESULTS: The patient mean age was 49.2±10.7 years. Most (57.1%) were premenopausal. Clinical disease stages ranged between T2N1 and T3N2. Pathological complete response (pCR) rate was 14.9 7 percent; (n=9). Two (5.7%) patients who were ER positive prior to treatment showed ER negativity after treatment. In 7 (21.1%) patients PR became negative and in 3 (9.0%) became positive after neoadjuvant chemotherapy. Changes in ER and PR receptors were not statistically significant (p=0.500 and PR p=0.549, respectively), whereas in 2 (5.8%) patients hormonal status changed significantly when compared to initial biopsies (p=0.003). In addition, the median value of PR intensity decreased from 20 to 10% (p=0.003) and Ki-67 decreased from 10 to 1% (p<0.001) following neoadjuvant therapy. Five (14.1%) patients exhibited some changes in HER 2 expression: HER 2 expression became 2+ in 3 patients previously being HER 2 negative, and in 2 patients HER 2 became negative whilst it was 1+ and 2+ prior to neoadjuvant chemotherapy. CONCLUSION: It was observed that the biologic markers ER, PR, HER 2 and Ki-67, from the same tumor material demonstrated differences after neoadjuvant treatment in breast cancer patients. These changes may affect the treatment decision.
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Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Neoplasias da Mama/metabolismo , Antígeno Ki-67/metabolismo , Terapia Neoadjuvante , Receptor ErbB-2/metabolismo , Receptores de Estrogênio/metabolismo , Receptores de Progesterona/metabolismo , Adulto , Biópsia , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Quimioterapia Adjuvante , Ciclofosfamida , Doxorrubicina/administração & dosagem , Feminino , Humanos , Imuno-Histoquímica , Mastectomia , Pessoa de Meia-Idade , Estadiamento de Neoplasias , Paclitaxel/administração & dosagem , Estudos Retrospectivos , Fatores de Tempo , Resultado do TratamentoRESUMO
PURPOSE: Mucinous breast carcinoma is rare subtype of breast cancer. Histopathologically, it is classified into two forms, pure and mixed type. It recurs late, metastasis to axillary lymph nodes is less common and is more hormone receptor positive. We herein present the data of our patients with pure mucinous breast cancer (PMBC) treated in our institution. METHODS: Among 1211 breast cancer patients with breast cancer diagnosed and treated in Hacettepe University Institute of Oncology, 20 patients (1.6%) with PMBC (defined as having mucinous component of more than 90%) were identified. Patient demographics, tumor characteristics and patient outcomes were assessed retrospectively. RESULTS: The median age at diagnosis was 52.5 years (range 27-80). The majority of the patients presented with stage II disease (n=15; 75%). One of 20 patients recurred with bone metastasis 50 months after diagnosis. Median follow-up was 39 months (range 3-137). Estrogen receptors (ER) were positive in 16 (80%) patients and HER-2 positive in one (5%). Twenty-five percent of the patients had positive axillary nodes. CONCLUSION: PMBC is a rare entity with favorable prognosis. Lymph node metastasis is rarely seen even in large -sized tumors.
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Adenocarcinoma Mucinoso/patologia , Neoplasias da Mama/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Metástase Linfática , Pessoa de Meia-Idade , Estadiamento de NeoplasiasAssuntos
Inibidores da Aromatase/uso terapêutico , Neoplasias da Mama/tratamento farmacológico , Carcinoma Hepatocelular/tratamento farmacológico , Neoplasias Hepáticas/tratamento farmacológico , Neoplasias Primárias Múltiplas/tratamento farmacológico , Idoso , Neoplasias da Mama/enzimologia , Neoplasias da Mama/patologia , Neoplasias da Mama/cirurgia , Carcinoma Hepatocelular/enzimologia , Carcinoma Hepatocelular/patologia , Carcinoma Hepatocelular/cirurgia , Terapia Combinada , Feminino , Humanos , Neoplasias Hepáticas/enzimologia , Neoplasias Hepáticas/patologia , Neoplasias Hepáticas/cirurgia , Neoplasias Primárias Múltiplas/enzimologia , Neoplasias Primárias Múltiplas/patologia , Neoplasias Primárias Múltiplas/cirurgia , Pós-MenopausaRESUMO
OBJECTIVES: Magnesium deficiency has been implicated as a factor in numerous chronic diseases and previous studies suggest a greater prevalence of occult magnesium deficiency among older adults. Serum is the choice for the assessment of most analyses used in clinical medicine, although serum magnesium concentrations have been shown to be poor predictors of intracellular magnesium concentration. The aim of this study was to compare intracellular and extracellular magnesium concentrations in geriatric outpatients. Moreover, we examined whether a significant correlation between magnesium parameters and clinical outcome existed. DESIGN: Cross-sectional study. SETTING: Geriatric medicine outpatient clinic of a university hospital. PARTICIPANTS: A total of 246 patients with a mean age of 71.9 ± 5.7 years were involved. MEASUREMENTS: Intra-erythrocyte magnesium levels were analyzed with atomic absorption spectrophotometry. RESULTS: Serum magnesium levels were within normal range in all patients, whereas intra-erythrocyte magnesium measurements were low in 57% of the patients. Increase in serum levels were together with just only a slightly increase in intra-erythrocyte measurements and the relationship was very weak. Intra-erythrocyte Mg levels were not significantly correlated with many laboratory or clinical parameters. CONCLUSION: Our results confirm that intra-erythrocyte Mg does not correlate with serum levels and clinical parameters in geriatric outpatients, but further studies are needed to define the correlation.
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Eritrócitos/química , Deficiência de Magnésio/sangue , Deficiência de Magnésio/diagnóstico , Magnésio/sangue , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Hospitais Universitários , Humanos , Deficiência de Magnésio/complicações , Deficiência de Magnésio/epidemiologia , Masculino , Ambulatório Hospitalar , Prevalência , Soro/química , Turquia/epidemiologiaRESUMO
OBJECTIVES: Evidence regarding the vascular basis of Alzheimer's disease (AD) is growing. In vascular damage thrombomodulin tears of the cell wall and its level increases in the plasma. von Willebrand factor (vWF) is also thought to be a biomarker for vascular damage. The aim of this study was to examine the levels of vWF and thrombomodulin in AD as possible markers for vascular damage and to test their utility as an early biomarker in AD. DESIGN: Case-control study. SETTING: Geriatric medicine outpatient clinic of a university hospital. PARTICIPANTS: Twenty Alzheimer's disease patients free from vascular risk factors and 20 controls were enrolled in the study. MEASUREMENTS: Thrombomodulin and VWF levels of 20 AD patients and 20 controls were analyzed by commercial kits. RESULTS: Thrombomodulin levels were not different between Alzheimer's disease and control groups [median (range) = 4.25 (2.27-37.00) ng/ml in Alzheimer's disease and 3.55 (2.27-14.00) in control group, p=0.15]. Von Willebrand Factor antigen (%) levels were 188.5 (96-306) in Alzheimer's disease, and 181 (112- 284) in control group (p=0.74). CONCLUSION: Although vascular damage is thought to play role in the pathogenesis of AD, vWF and thrombomodulin failed to demonstrate the vascular damage in AD. Their utility to be used as early biomarkers of AD could not be shown.
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Doença de Alzheimer/sangue , Trombomodulina/metabolismo , Fator de von Willebrand/metabolismo , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/etiologia , Biomarcadores/sangue , Estudos de Casos e Controles , Endotélio Vascular/patologia , Feminino , Humanos , Masculino , Valor Preditivo dos TestesAssuntos
Neoplasias Ovarianas/patologia , Neoplasias Cutâneas/secundário , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carboplatina/administração & dosagem , Terapia Combinada , Evolução Fatal , Feminino , Humanos , Histerectomia , Metástase Neoplásica , Neoplasias Ovarianas/tratamento farmacológico , Neoplasias Ovarianas/cirurgia , Ovariectomia , Paclitaxel/administração & dosagemRESUMO
Though not very common, solid tumor involvement of the bone marrow (BM) may have serious consequences. Recent studies have shown that mean platelet volume (MPV) is a good indicator for BM disease in the differential diagnosis of thrombocytopenia. We investigated the significance of MPV in the diagnosis of BM metastasis in patients with solid tumors. Patients with histologically-verified solid tumors for whom BM biopsy specimens were available (n = 121) and healthy controls (n = 62) were included in this retrospective study. A total of 183 individuals were analyzed. Of the patients, 61 had a diagnosis of BM metastasis (Group A), 60 did not have BM metastasis (Group B). Group B and C (healthy controls) constituted the control group without BM metastasis (n = 122). The mean MPV was 7.0 +/- 0.8 fl in patients with BM metastasis and 8.4 fl in the control group (P < 0.001). A cut-off point of <7.4 fl was found to have significant predictive value according to receiver-operating characteristics curve analysis. This cut-off point had 85% positive predictive value and 90% negative predictive value in the diagnosis of BM metastasis (odds ratio: 53; 95% confidence interval: 20-135), and a sensitivity of 82.7% and specificity of 89.6%. MPV can be used as a reliable marker to guide the clinician as to the likely presence or absence of BM metastasis in patients with solid tumors.
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Plaquetas/patologia , Neoplasias da Medula Óssea/secundário , Tamanho Celular , Neoplasias/sangue , Adolescente , Adulto , Idoso , Anemia , Neoplasias da Medula Óssea/sangue , Neoplasias da Medula Óssea/diagnóstico , Estudos de Casos e Controles , Diagnóstico Diferencial , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Curva ROC , Estudos Retrospectivos , Trombocitopenia/diagnósticoRESUMO
BACKGROUND: Aging is associated with an increased risk for atherosclerosis in which endothelial dysfunction is an early marker. OBJECTIVE: The purpose of this study was to determine if endothelial function is altered with increasing age in healthy subjects. METHOD: The study population consisted of 30 elderly and 36 younger subjects free from major cardiovascular risk factors. Transthoracic echocardiography was performed for each subject to rule out structural heart disease. Endothelial function was evaluated by flow-mediated dilation (FMD) of the brachial artery via ultrasound. RESULTS: Baseline characteristics of the elderly and the younger group were similar, except for age (mean age: 71.3 +/- 5.8 vs. 26.5 +/- 7.2). Transthoracic echocardiography was normal in all subjects. FMD of the elderly group was significantly lower than the younger group (7.9 +/- 3.1 in the elderly, 10.8 +/- 1.9 in the younger group, p < 0.001). A negative relationship was found between FMD and age (r = -0.528, p < 0.001). CONCLUSION: It can be concluded that endothelial function detected by FMD declines with increasing age in healthy human subjects. Advanced age is a predictor of impaired endothelial function.
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Fatores Etários , Artéria Braquial/fisiologia , Endotélio Vascular/fisiologia , Vasodilatação/fisiologia , Adulto , Idoso , Ecocardiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valores de Referência , Fluxo Sanguíneo Regional/fisiologia , Volume Sistólico/fisiologiaRESUMO
AIMS: To evaluate the results of ultrasonography and fluoroscopy-guided percutaneous placement of internal jugular vein catheters and subcutaneous chest port system in patients with carcinoma. METHODS: The data of 1418 patients in whom the devices were implanted from 2003 to 2007 in interventional radiology unit were evaluated prospectively. RESULTS: The median age was 45 years (range 23-70), 658 were women and 760 were men. Technical success in implanting the devices was 100%. No instances of major complications such as pneumothorax, hemothorax, catheter tip malposition, air embolism were seen. The overall complication rate was 5%. Overall follow-up of patients was 699 074 catheter days with the mean function time of 493 (range 130-1215) days. CONCLUSIONS: With the benefit of ultrasonography and fluoroscopy guidance, chest port systems can be implanted by interventional radiologists without major insertion complications and with a higher success rate than those reported in surgical placements.
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Cateterismo Venoso Central/métodos , Cateteres de Demora , Fluoroscopia/métodos , Neoplasias/diagnóstico por imagem , Tórax/diagnóstico por imagem , Adulto , Idoso , Feminino , Seguimentos , Humanos , Veias Jugulares , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , UltrassonografiaRESUMO
MMPI-2 profiles of 93 presurgical intractable epilepsy patients were examined using Ward's method of cluster analysis. Three clusters were identified. The means of each cluster suggest that 45% of the sample had minimal psychological complaints, 30% presented with generalized clinical elevations, and 25% of the patients had profiles of intermediate elevations with a tendency to emphasize somatic complaints and/or depression. Gender, age of seizure onset, and seizure laterality were not found to be uniquely associated with the cluster profiles. Further examination of correlates of group membership is warranted to provide information for treatment planning.
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CONTEXT: Anterior temporal lobectomy is an effective treatment for medically intractable temporal lobe seizures. Identification of seizure focus is essential to surgical success. OBJECTIVE: To examine the usefulness of presurgical electroencephalography (EEG), magnetic resonance imaging (MRI), and neuropsychological data in the lateralization of seizure focus. DESIGN: Presurgical EEG, MRI, and neuropsychological data were entered, independently and in combination, as indicators of seizure focus lateralization in discriminant function analyses, yielding correct seizure lateralization rates for each set of indicators. SETTING: Comprehensive Epilepsy Program, Shands Teaching Hospital, University of Florida, Gainesville. PATIENTS: Forty-four right-handed adult patients who ultimately underwent successful anterior temporal lobectomy. Left-handed patients, those with less-than-optimal surgical outcome, and any patients with a history of neurological insult unrelated to seizure disorder were excluded from this study. MAIN OUTCOME MEASURES: For each patient presurgical EEG was represented as a seizure lateralization index reflecting the numbers of seizures originating in the left hemisphere, right hemisphere, and those unable to be lateralized. Magnetic resonance imaging data were represented as left-right difference in hippocampal volume. Neuropsychological data consisted of mean scores in each of 5 cognitive domains. RESULTS: The EEG was a better indicator of lateralization (89% correct) than MRI (86%), although not significantly. The EEG and MRI were significantly superior to neuropsychological data (66%) (P=.02 and .04, respectively). Combining EEG and MRI yielded a significantly higher lateralization rate (93%) than EEG alone (P<.01). Adding neuropsychological data improved this slightly (95%). CONCLUSIONS: The EEG and MRI were of high lateralization value, while neuropsychological data were of limited use in this regard. Combining EEG, MRI, and neuropsychological improved focus lateralization relative to using these data independently.
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Transtornos Cognitivos/diagnóstico , Eletroencefalografia , Epilepsia do Lobo Temporal/diagnóstico , Lateralidade Funcional/fisiologia , Hipocampo/anatomia & histologia , Adulto , Epilepsia do Lobo Temporal/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Cuidados Pré-OperatóriosRESUMO
Children with Joubert syndrome have physical and intellectual disabilities. The purpose of this study was to assess the impact of Joubert syndrome on parental burden, coping, and family functioning. Forty-nine primary caregivers were surveyed. Forty-three primary caregivers were mothers and six were fathers; their mean age was 34 years. The following measures were used: Beck Depression Inventory, Child Development Inventory, Caregiver Strain Index, Family Assessment Device, and Ways of Coping Checklist-Revised. The data show that caregiver burden is not related to the severity of the child's illness, but that caregivers report significant burden. Higher burden was associated with the use of palliative coping methods, and family functioning was problematic. The results of this study suggest that for parents of children with Joubert syndrome, degree of parental burden depends more on the parents' coping skills and the level of family functioning rather than on the degree of the child's impairment. These findings highlight the importance of assessing caregiver burden, as well as decreased family functioning or coping abilities, since these problems often can be managed with psychologic intervention.
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Adaptação Psicológica , Cuidadores/psicologia , Cerebelo/anormalidades , Efeitos Psicossociais da Doença , Deficiências do Desenvolvimento/psicologia , Relações Familiares , Ataxias Espinocerebelares/psicologia , Atividades Cotidianas/psicologia , Adolescente , Criança , Pré-Escolar , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Masculino , Ataxias Espinocerebelares/genética , SíndromeRESUMO
This article reports on a series of studies of children with Joubert syndrome who were examined in three investigations from 1994 through 1998. Neuropsychologic screening of 10 of 40 children showed a variety of deficits in cognition, verbal memory, visuomotor, motor, and language-related tasks. Parent report of developmental attainments revealed only 3 of 40 children functioning in the borderline range, with the rest scoring in the severely impaired range. Parent reports of behaviors revealed problems in temperament, hyperactivity, aggressiveness, and dependency, as well as problems in physical development and care that were felt to be related to their neurologic handicaps. Future directions of research with this rare disorder are suggested.
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Doenças Cerebelares/genética , Cerebelo/anormalidades , Transtornos Cognitivos , Deficiências do Desenvolvimento , Adolescente , Encéfalo/anormalidades , Encéfalo/patologia , Ataxia Cerebelar/genética , Cerebelo/patologia , Criança , Pré-Escolar , Transtornos Cognitivos/genética , Deficiências do Desenvolvimento/genética , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Testes Neuropsicológicos , Transtornos da Motilidade Ocular/genética , Transtornos Respiratórios/genética , SíndromeRESUMO
CONTEXT: Despite the high prevalence and potentially serious outcomes associated with concussion in athletes, there is little systematic research examining risk factors and short- and long-term outcomes. OBJECTIVES: To assess the relationship between concussion history and learning disability (LD) and the association of these variables with neuropsychological performance and to evaluate postconcussion recovery in a sample of college football players. DESIGN, SETTING, AND PARTICIPANTS: A total of 393 athletes from 4 university football programs across the United States received preseason baseline evaluations between May 1997 and February 1999. Subjects who had subsequent football-related acute concussions (n = 16) underwent neuropsychological comparison with matched control athletes from within the sample (n = 10). MAIN OUTCOME MEASURES: Clinical interview, 8 neuropsychological measures, and concussion symptom scale ratings at baseline and after concussion. RESULTS: Of the 393 players, 129 (34%) had experienced 1 previous concussion and 79 (20%) had experienced 2 or more concussions. Multivariate analysis of variance yielded significant main effects for both LD (P<.001) and concussion history (P=.009), resulting in lowered baseline neuropsychological performance. A significant interaction was found between LD and history of multiple concussions and LD on 2 neuropsychological measures (Trail-Making Test, Form B [P=.007] and Symbol Digit Modalities Test [P=.009]), indicating poorer performance for the group with LD and multiple concussions compared with other groups. A discriminant function analysis using neuropsychological testing of athletes 24 hours after acute in-season concussion compared with controls resulted in an overall 89.5% correct classification rate. CONCLUSIONS: Our study suggests that neuropsychological assessment is a useful indicator of cognitive functioning in athletes and that both history of multiple concussions and LD are associated with reduced cognitive performance. These variables may be detrimentally synergistic and should receive further study.
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Concussão Encefálica/fisiopatologia , Cognição , Futebol Americano/lesões , Deficiências da Aprendizagem/fisiopatologia , Adolescente , Adulto , Traumatismos em Atletas/complicações , Traumatismos em Atletas/fisiopatologia , Concussão Encefálica/complicações , Análise Discriminante , Humanos , Deficiências da Aprendizagem/complicações , Masculino , Análise Multivariada , Testes Neuropsicológicos , Fatores de Risco , UniversidadesRESUMO
Joubert syndrome is a rare autosomal-recessive condition characterized by early hyperpnea and apnea, developmental delay, and truncal ataxia. We previously described key ocular motor signs in Joubert syndrome and the molar tooth sign resulting from dysplasia of the isthmic segment of the brain stem, superior cerebellar peduncles, and vermis. In this study, we obtained clinical and developmental data in 61 cases, and radiologic data in 46 of these, to determine the prevalence of the molar tooth sign in a large sample, and to ensure that magnetic resonance images obtained for study were representative of the Joubert syndrome population at large. We studied the morphology of the isthmic segment of the pontomesencephalic junction, the segment of the brain stem derived from the primitive isthmus. Portions of the cerebellum analyzed included the superior cerebellar peduncles, the anterior and posterior lobes of the vermis, and the flocculonodular lobe. In one case, autopsy of the brain was performed. The average age at diagnosis was 33 months. All patients were hypotonic and developmentally delayed. The molar tooth sign was present in 85% of cases with 13% of these showing additional malformations. All patients without the molar tooth sign had other mimicking conditions such as neocerebellar dysgenesis, isolated vermian atrophy, cerebellar aplasia, and cystic dilation of the cisterna magna. Autopsy showed aplasia of the cerebellar vermis with dysplasia of the dentate nucleus, elongated locus coeruleus, and marked dysplasia of the caudal medulla. A better understanding of the clinical, radiologic, and pathologic features of Joubert syndrome should help uncover the genetic basis for the syndrome.