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OBJECTIVE: To apply, in Brazil, the T-cell receptor excision circles (TRECs) quantification technique using real-time polymerase chain reaction in newborn screening for severe combined immunodeficiency and assess the feasibility of implementing it on a large scale in Brazil. METHODS: 8715 newborn blood samples were collected on filter paper and, after DNA elution, TRECs were quantified by real-time polymerase chain reaction. The cutoff value to determine whether a sample was abnormal was determined by ROC curve analysis, using SSPS. RESULTS: The concentration of TRECs in 8,682 samples ranged from 2 to 2,181TRECs/µL of blood, with mean and median of 324 and 259TRECs/µL, respectively. Forty-nine (0.56%) samples were below the cutoff (30TRECs/µL) and were reanalyzed. Four (0.05%) samples had abnormal results (between 16 and 29TRECs/µL). Samples from patients previously identified as having severe combined immunodeficiency or DiGeorge syndrome were used to validate the assay and all of them showed TRECs below the cutoff. Preterm infants had lower levels of TRECs than full-term neonates. The ROC curve showed a cutoff of 26TRECs/µL, with 100% sensitivity for detecting severe combined immunodeficiency. Using this value, retest and referral rates were 0.43% (37 samples) and 0.03% (3 samples), respectively. CONCLUSION: The technique is reliable and can be applied on a large scale after the training of technical teams throughout Brazil.
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Tamizaje Neonatal/métodos , Receptores de Antígenos de Linfocitos T/sangre , Inmunodeficiencia Combinada Grave/sangre , Inmunodeficiencia Combinada Grave/diagnóstico , Factores de Edad , Brasil , Pruebas con Sangre Seca , Femenino , Humanos , Recién Nacido , Masculino , Reacción en Cadena en Tiempo Real de la Polimerasa , Receptores de Antígenos de Linfocitos T/genética , Valores de Referencia , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Estadísticas no Paramétricas , Factores de TiempoRESUMEN
BACKGROUND: Cognitive decline and Alzheimer's disease often affect older adults with Down syndrome (DS) much earlier than those in the general population. There is also growing evidence of the effects of negative life events on the mental health and behavior of individuals with intellectual disability. However, to our knowledge, this is the first study investigating objective cognitive decline following bereavement in aging individuals with DS. OBJECTIVE: The objective of this study was to determine whether cognitive decline correlates with bereavement following the recent loss of a caregiver or with behavioral changes in a sample of adult individuals with DS who do not meet the criteria for dementia or depression, using the longitudinal assessment of the Cambridge Cognitive Examination (CAMCOG), together with the Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). METHODS: We evaluated 18 subjects at baseline and over a follow-up period of 14-22 months, attempting to determine whether cognitive decline correlates with bereavement following the recent loss of the main caregiver or with behavioral changes (as assessed with the Neuropsychiatric Inventory). RESULTS: The mean rate of change in CAMCOG was -1.83 (standard deviation 4.51). Behavioral changes had a significant direct influence on cognitive decline. When bereavement was accompanied by behavioral changes, the probability of cognitive decline was 87% (odds ratio 3.82). CONCLUSION: The occurrence of behavioral changes attributed to bereavement following the loss of the primary caregiver significantly increases the probability of cognitive decline in individuals with DS. Longitudinal comparison of the CAMCOG and use of the IQCODE appear to enrich the analysis of cognitive decline in individuals with DS. Further studies involving larger samples are needed in order to corroborate and expand upon our findings, which can have implications for the clinical management of older adults with DS.
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The aim of this study was to investigate the association between physical activity levels (occupational, sports, and leisure time activities), depression, anxiety, and epilepsy. The behavioral outcomes of individuals with epilepsy (E) were also compared with healthy control subjects (C). The sample included 31 individuals with epilepsy (12 with idiopathic generalized epilepsy and 19 with partial epilepsy) and 31 control subjects. Self-rating questionnaires were used to assess mood (State-Trait Anxiety Inventory and Beck Depression Inventory), anxiety, and depression as well as habitual physical activity. Patients with epilepsy were more severely impaired compared to control subjects in both mood questionnaires and presented higher levels of depression (35%), state anxiety (18%), and trait anxiety (12.6%) when compared to the C group. Although physical activity level did not differ significantly between groups, linear regression analyses showed that the physical activity leisure level predicted 31% of depression levels and 26% of anxiety levels in the E group. These data suggest that low levels of physical activity may be considered a risk factor for the development of depression and anxiety and can play an important role in the quality of life of individuals with epilepsy.
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Epilepsia/complicaciones , Actividades Recreativas/psicología , Trastornos del Humor/etiología , Trastornos del Humor/psicología , Actividad Motora/fisiología , Adolescente , Adulto , Femenino , Humanos , Modelos Lineales , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Encuestas y Cuestionarios , Adulto JovenRESUMEN
OBJECTIVE: The aim of the study described here was to examine the relationship between memory function, proton magnetic resonance spectroscopy ((1)H-MRS) abnormalities, and interictal epileptiform discharge (IED) lateralization in patients with temporal lobe epilepsy (TLE) related to unilateral mesial temporal sclerosis. METHODS: We assessed performance on tests of memory function and intelligence quotient (IQ) in 29 right-handed outpatients and 24 controls. IEDs were assessed on 30-minute-awake and 30-minute-sleep EEG samples. Patients had (1)H-MRS at 1.5 T. RESULTS: There was a negative correlation between IQ (P=0.031) and Rey Auditory Verbal Learning Test results (P=0.022) and epilepsy duration; between(1)H-MRS findings and epilepsy duration (P=0.027); and between N-acetylaspartate (NAA) levels and IEDs (P=0.006) in contralateral mesial temporal structures in the left MTS group. (1)H-MRS findings, IEDs, and verbal function were correlated. CONCLUSIONS: These findings suggest that IEDs and NAA/(Cho+Cr) ratios reflecting neural metabolism are closely related to verbal memory function in mesial temporal sclerosis. Higher interictal activity on the EEG was associated with a decline in total NAA in contralateral mesial temporal structures.