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1.
Medicine (Baltimore) ; 100(15): e25403, 2021 Apr 16.
Artigo em Inglês | MEDLINE | ID: mdl-33847637

RESUMO

ABSTRACT: Brain atrophy has been observed in perinatally HIV-infected patients (PHIV) despite initiation on combined antiretroviral treatment (cART), but neuroimaging studies are limited. We aimed to evaluate cortical thickness (CT) and subcortical gray matter (GM) volumes of PHIV youths with stable immunovirological situation and with a normal daily performance.A prospective cross-sectional study was conducted. A total of 25 PHIV patients on cART and 25 HIV-negative (HIV-) controls matched by age, sex, level of education, and socioeconomic status underwent a magnetic resonance imaging scan. CAT12 toolbox was used to extract CT values from T1w images using parcellations from Desikan-Killiany atlas (DK40). To measure regional brain volumes, native segmented images were parceled in regions of interest according to the Neuromorphometrics Atlas. Neuropsychological assessment and psychopathological symptoms were documented.Fifty participants were included (60% females, median age 20 years [interquartile range, IQR 19-23], 64% Whites). No differences regarding neuropsychological tests or psychopathological symptoms were found between groups (all P > .05). All participants presented an average performance in the Fluid Intelligence (FI) test (PHIV mean: -0.12, HIV- mean: 0.24), When comparing CT, PHIV-infected patients showed thinner cortices compared with their peers in fusiform gyrus (P = .000, P = .009), lateral-orbitofrontal gyrus (P = .006, P = .0024), and right parsobitalis gyrus (P = .047). Regarding subcortical GM volumes, PHIV patients showed lower right amygdala (P = .014) and left putamen (P = .016) volumes when compared with HIV- controls. Within the PHIV group, higher CD4 count was associated with higher volumes in right putamen (B = 0.00000038, P = .045). Moreover, increased age at cART initiation and lower nadir CD4 count was associated with larger volumes in left accumbens (B = 0.0000046, P = .033; B = -0.00000008, P = .045, respectively).PHIV patients showed thinner cortices of areas in temporal, orbito-frontal and occipital lobes and lower volumes of subcortical GM volumes when compared with the HIV- control group, suggesting cortical and subcortical brain alterations in otherwise neuroasymptomatic patients. Nevertheless, larger and longitudinal studies are required to determine the impact of HIV on brain structure in PHIV patients and to further identify risk and protective factors that could be implicated.


Assuntos
Substância Cinzenta/patologia , Infecções por HIV/fisiopatologia , Infecções por HIV/transmissão , Transmissão Vertical de Doenças Infecciosas/estatística & dados numéricos , Fatores Etários , Antirretrovirais/uso terapêutico , Atrofia , Gânglios da Base/diagnóstico por imagem , Gânglios da Base/patologia , Contagem de Linfócito CD4 , Estudos Transversais , Feminino , Substância Cinzenta/diagnóstico por imagem , Infecções por HIV/tratamento farmacológico , Infecções por HIV/epidemiologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Prospectivos , Fatores Socioeconômicos , Adulto Jovem
4.
Am J Med Genet ; 110(1): 73-7, 2002 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-12116275

RESUMO

We report on a new patient with a 7q terminal deletion. The 18-month-old boy had metal retardation, microcephaly, a distinctive face, bilateral coloboma, café-au-lait spot on the abdomen, and sacral agenesis. The high resolution GTG bands (550-850 bands), currently used in our laboratory, showed a 7q terminal deletion, which was also confirmed with fluorescence in situ hybridization (FISH). The homeobox HLXB9 gene, localized at 7q36 has been demonstrated to be involved in sacral agenesis; in fact patients with 7q terminal deletions frequently have this malformation. We could not perform molecular studies in this patient to confirm the HLXB9 haploinsufficiency, but we postulate that he carried it.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Meningomielocele/patologia , Sacro/anormalidades , Bandeamento Cromossômico , Humanos , Hibridização in Situ Fluorescente , Lactente , Masculino
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