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1.
Sleep ; 2024 Mar 18.
Artigo em Inglês | MEDLINE | ID: mdl-38497896

RESUMO

STUDY OBJECTIVES: Idiopathic/isolated REM-sleep behavior disorder (iRBD) often precedes the onset of synucleinopathies. Here, we investigated whether baseline resting-state EEG advanced spectral power and functional connectivity differ between iRBD patients who converted towards a synucleinopathy at follow-up and those who did not. METHODS: Eighty-one participants with iRBD (66.89±6.91 years) underwent a baseline resting-state EEG recording, a neuropsychological assessment and a neurological examination. We estimated EEG power spectral density using standard analyses and derived spectral estimates of rhythmic and arrhythmic components. Global and pairwise EEG functional connectivity analyses were computed using the weighted phase-lag index (wPLI). Pixel-based permutation tests were used to compare groups. RESULTS: After a mean follow-up of 5.01±2.76 years, 34 patients were diagnosed with a synucleinopathy (67.81±7.34 years) and 47 remained disease-free (65.53±7.09 years). Among patients who converted, 22 were diagnosed with Parkinson's disease and 12 with dementia with Lewy bodies. As compared to patients who did not convert, patients who converted exhibited at baseline higher relative theta standard power, steeper slopes of the arrhythmic component and higher theta rhythmic power mostly in occipital regions. Furthermore, patients who converted showed higher beta global wPLI but lower alpha wPLI between left temporal and occipital regions. CONCLUSION: Analyses of resting-state EEG rhythmic and arrhythmic components and functional connectivity suggest an imbalanced excitatory-to-inhibitory activity within large-scale networks, which is associated with later development of a synucleinopathy in iRBD patients.

2.
Clin Radiol ; 75(8): 642.e15-642.e23, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32327227

RESUMO

AIM: To define the role of the T2-weighted axial oblique sequence for the magnetic resonance imaging (MRI) assessment of peroneal tendon pathologies. MATERIALS AND METHODS: Two radiologists interpreted 180 ankle MRI examinations using standard sequences alone and then in combination with an axial oblique sequence. The readers indicated how likely a peroneal pathology was present using a five-level confidence scale. Diagnostic confidence, interobserver agreement, and clinical correlation were compared. Changes in diagnosis were recorded. RESULTS: For both readers, the diagnostic confidence was significantly higher using the axial oblique sequence for tendinosis and inframalleolar tenosynovitis for both tendons and for peroneus brevis partial and longitudinal split tears (p<0.001). For reader 1, the diagnostic confidence was also higher using the axial oblique sequence for peroneus longus partial tears (p=0.007). Changes in diagnosis were seen for tendinosis and tenosynovitis of both tendons and for peroneus brevis partial and longitudinal split tears in 0.6-10.8% of cases. Inter-rater reliability was significantly higher with the axial oblique sequence for the diagnosis of tendinosis, inframalleolar tenosynovitis, and partial tear for both tendons, and for peroneus brevis longitudinal split tear. Amongst 105 examinations with clinical information, peroneal pathologies were most frequently diagnosed as present in cases with lateral symptoms (17% versus 14%) and absent in cases without lateral symptoms (92% versus 86%) on the axial oblique sequence. CONCLUSION: The axial oblique sequence for the assessment of peroneal tendons allows for higher diagnostic confidence, inter-rater reliability, and clinical correlation and can lead to changes in diagnosis.


Assuntos
Imageamento por Ressonância Magnética/métodos , Tendinopatia/patologia , Traumatismos dos Tendões/patologia , Tendões/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Reprodutibilidade dos Testes , Estudos Retrospectivos , Adulto Jovem
3.
J Dev Orig Health Dis ; 10(1): 132-137, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30113278

RESUMO

The epidemic of prescription and non-prescription opioid misuse is of particular importance in pregnancy. The Society of Obstetricians and Gynaecologists of Canada currently recommends opioid replacement therapy with methadone or buprenorphine for opioid-dependent women during pregnancy. This vulnerable segment of the population has been shown to be at increased risk of blood-borne infectious diseases, nutritional insecurity and stress. The objective of this study was to describe an urban cohort of pregnant women on opioid replacement therapy and to evaluate potential effects on the fetus. A retrospective chart review of all women on opioid replacement therapy and their infants who delivered at The Ottawa Hospital General and Civic campuses between January 1, 2013 and March 24, 2017 was conducted. Data were collected on maternal characteristics, pregnancy outcomes, neonatal outcomes and corresponding placental pathology. Maternal comorbidities identified included high rates of infection, tobacco use and illicit substance use, as well as increased rates of placental abruption compared with national averages. Compared with national baseline averages, the mean neonatal birth weight was low, and the incidence of small for gestational age infants and congenital anomalies was high. The incidence of NAS was comparable with estimates from other studies of similar cohorts. Findings support existing literature that calls for a comprehensive interdisciplinary risk reduction approach including dietary, social, domestic, psychological and other supports to care for opioid-dependent women in pregnancy.


Assuntos
Síndrome de Abstinência Neonatal/epidemiologia , Tratamento de Substituição de Opiáceos/efeitos adversos , Transtornos Relacionados ao Uso de Opioides/tratamento farmacológico , Efeitos Tardios da Exposição Pré-Natal , Canadá , Feminino , Humanos , Incidência , Saúde Materna , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Estresse Fisiológico
4.
Cytogenet Genome Res ; 115(1): 90-3, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16974088

RESUMO

Because ring Y chromosomes are unstable during cell division most reported patients are mosaics, usually including a 45,X cell line. The phenotype varies from normal males or females with streak gonads to sexual ambiguities. We present here the case of a 23-year-old man who was referred at 11 years for growth delay. The GTG-banded karyotypes of lymphocytes revealed two cell lines: 46,X,dic r(Y) seen in 76% of the metaphases analyzed and 45,X (24%). Karyotypes and FISH were performed eight years later with the following probes: DYZ3 (Y centromere), SRY (sex-region of the Y), DYZ1 (Yq heterochromatin), CEPX/Y (X centromere and Yq heterochromatin), TelVysion Xp/Yp, Xq/Yq (X and Y subtelomeres), pan-telomeric, cosmid clones LLycos130G04 and LLycos37C09 (PARII), and BAC clone RP11-5C5 (Yq11.223). The results showed an increase in the 45,X cell line (60%) and a reduction in the 46,X,dic r(Y) cell line (36.4%). The use of Yq probes showed that the ring Y chromosome was dicentric. In addition, other ring Y structures were observed. The breakpoints occurred in proximal Yp11.32 or in Yp11.31 distal to SRY and in Yq12 distal to the PARII region. Therefore, most of the Y remained intact and all genes, with the exception of those in PARI, are present in double dosage in the dic r(Y). The level of mosaicism was important in defining the phenotype.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Y , Transtornos do Crescimento/genética , Mosaicismo , Adulto , Linhagem da Célula , Cromossomos Humanos X , Doenças Genéticas Ligadas ao Cromossomo Y , Humanos , Masculino , Fenótipo
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