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1.
Wien Klin Wochenschr ; 136(1-2): 67-72, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-37389688

RESUMEN

BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare highly heterogeneous disease. In this paper, we present a case of NIID featured in cortical involvement in left hemisphere of brain and the imaging changes in the process of the disease. CASE PRESENTATION: A 57-year-old female was hospitalized due to recurrent attacks of headache with cognitive impairment and tremor for 2 years. The symptoms of headache episodes were reversible. The characteristic radiologic change was high intensity signal involving the grey matter-white matter junction on the brain diffusion-weighted imaging (DWI), which existed in the frontal lobe and then extended backwards. Atypical features on fluid-attenuated inversion recovery (FLAIR) sequences showing small patchy high signals in the cerebellar vermis. High signals and edema were detected on FLAIR images along the cortex of the left occipito-parieto-temporal lobes, expanding and gradually shrinking in the follow-up visit. Besides, cerebral atrophy and bilateral symmetrical leukoencephalopathy were also detected. Skin biopsy and genetic testing confirmed the diagnosis of NIID. CONCLUSION: Except for typical radiological change strongly suggesting NIID, it is also necessary to notice the insidious symptoms of NIID combining with some atypical imaging features to make an early diagnosis. Skin biopsies or genetic testing should be carried out early in patients with highly suspected NIID.


Asunto(s)
Enfermedades Neurodegenerativas , Femenino , Humanos , Persona de Mediana Edad , Enfermedades Neurodegenerativas/complicaciones , Enfermedades Neurodegenerativas/diagnóstico , Enfermedades Neurodegenerativas/patología , Imagen por Resonancia Magnética , Imagen de Difusión por Resonancia Magnética , Cefalea
2.
Biochem Genet ; 2023 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-37910330

RESUMEN

Leukoaraiosis (LA) appears as white matter hyperintensities on T2-weighted brain magnetic resonance imaging scans. Age and hypertension are considered the primary risk factors for LA, but its pathogenesis remains uncertain. This study aims to investigate the correlation between the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and LA. A total of 140 patients with LA and 136 neuroimaging alteration-free controls were recruited in a case-control study. ACE I/D polymorphism was determined using the polymerase chain reaction method. The allele and genotype distributions of the ACE I/D polymorphism were significantly different between subjects with and without LA. Significant difference was observed in the genotypic distribution between LA patients and controls for recessive and additive models. A statistically significant association remained apparent after adjusting for potential risk factors (D/D vs. I/D + I/I: adjusted OR 3.251, 95% CI 1.185-8.918; D/D vs. I/I: adjusted OR 3.277, 95% CI 1.187-9.047). Our results indicate that the D/D genotype and D allele are important risk factors for LA. Future studies with larger populations are needed to validate our results.

3.
Clin Appl Thromb Hemost ; 28: 10760296221144038, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-36503260

RESUMEN

We aimed to investigate the efficacy and safety of rivaroxaban for acute and long-term management of cerebral venous sinus thrombosis (CVST). This study reviewed CVST-diagnosed patients admitted to the First Affiliated Hospital of Guangxi Medical University from January 2015 to December 2020. The primary outcome was a composite of recurrent thrombosis or major bleeding events. The secondary efficacy outcomes included a disease recovery time (DRT) presenting the time from admission to the endpoint as recovery (the modified Rankin scale [mRS] score [0-1]) within 30 and 90 days, and length of hospital stay (LHS). Patients treated with rivaroxaban (38) and warfarin (45) were enrolled in the final analysis. The primary outcome had no significant difference (5.3% vs 11.1%, P = .576) between the 2 groups. The secondary efficacy outcome regarding the median 30-d DRT was 17 days (95% confidence interval [CI], 14.6-19.4) in the rivaroxaban group, compared with 26.0 days (95% CI, 16.8-35.2) in the warfarin group (hazard ratio, 1.806; 95% CI, 1.051-3.103; log-rank P = .026). Two groups have a significant difference in LHS (P = .041). Patients with cerebral edema, intracerebral hemorrhage, and mild/moderate disability (admission mRS score [2-3]) treated with rivaroxaban recovered faster than those with warfarin (log-rank P < .05). Patients with cerebral edema, intracerebral hemorrhage, and mild/moderate disability treated with rivaroxaban had a shorter recovery time than those treated with warfarin within 1 month from admission, indicating that rivaroxaban a promising convenient therapy for CVST, helping them speedily restore social functions.


Asunto(s)
Edema Encefálico , Trombosis de los Senos Intracraneales , Humanos , Rivaroxabán/efectos adversos , Inhibidores del Factor Xa/efectos adversos , Anticoagulantes/efectos adversos , Edema Encefálico/inducido químicamente , Edema Encefálico/tratamiento farmacológico , Pueblos del Este de Asia , China , Warfarina/efectos adversos , Hemorragia Cerebral/tratamiento farmacológico , Trombosis de los Senos Intracraneales/tratamiento farmacológico , Resultado del Tratamiento
5.
J Med Internet Res ; 23(12): e29167, 2021 12 07.
Artículo en Inglés | MEDLINE | ID: mdl-34878992

RESUMEN

BACKGROUND: Walking is a simple but beneficial form of physical activity (PA). Self-monitoring and providing information about social norms are the 2 most widely used "mobile health (mHealth)" strategies to promote walking behavior. However, previous studies have failed to discriminate the effect of self-monitoring from the combination of the 2 strategies, and provide practical evidence within Chinese culture. Some essential moderators, such as gender and group identity, were also overlooked. OBJECTIVE: We aimed to investigate the effectiveness of social norm and self-monitoring interventions for walking behavior and assess the moderating effects of gender and group identity, which could guide optimal mHealth intervention projects in China. METHODS: In 2 longitudinal tracking studies (study 1, 22 days; study 2, 31 days), Chinese college students wore trackers for at least 8 hours per day (MASAI 3D Pedometer and Xiaomi Wristband 2) to record their daily step counts in baseline, intervention, and follow-up stages. In each study, participants (study 1: n=117, 54% female, mean age 25.60 years; study 2: n=180, 51% female, mean age 22.60 years) were randomly allocated to 1 of the following 3 groups: a self-monitoring group and 2 social norm intervention groups. In the 2 intervention groups and during the intervention stage, participants received different social norm information regarding group member step rankings corresponding to their grouping type of social norm information. In study 1, participants were grouped by within-group member PA levels (PA consistent vs PA inconsistent), and in study 2, participants were grouped by their received gender-specific social norm information (gender consistent vs gender inconsistent). Piece-wise linear mixed models were used to compare the difference in walking steps between groups. RESULTS: In study 1, for males in the self-monitoring group, walking steps significantly decreased from the baseline stage to the intervention stage (change in slope=-1422.16; P=.02). However, additional social norm information regardless of group consistency kept their walking unchanged. For females, social norm information did not provide any extra benefit beyond self-monitoring. Females exposed to PA-inconsistent social norm information even walked less (slope during the intervention=-122.18; P=.03). In study 2, for males, a similar pattern was observed, with a decrease in walking steps in the self-monitoring group (change in slope=-151.33; P=.08), but there was no decrease in the 2 social norm intervention groups. However, for females, gender-consistent social norm information decreased walking steps (slope during the intervention=-143.68; P=.03). CONCLUSIONS: Both gender and group identity moderated the effect of social norm information on walking. Among females, social norm information showed no benefit for walking behavior and may have exerted a backfire effect. Among males, while walking behavior decreased with self-monitoring only, the inclusion of social norm information held the level of walking behavior steady.


Asunto(s)
Normas Sociales , Caminata , Adulto , China , Ejercicio Físico , Femenino , Humanos , Masculino , Estudiantes , Adulto Joven
6.
Mamm Genome ; 32(2): 115-122, 2021 04.
Artículo en Inglés | MEDLINE | ID: mdl-33755782

RESUMEN

Atherosclerosis was an important pathophysiological basis of atherothrombotic stroke, and phosphodiesterase 4D (PDE4D) polymorphism (SNP83/rs966221) was reported to be associated with the susceptibility to atherothrombotic stroke. Aim of the present study was to explore the potential association between SNP83 and carotid atherosclerosis (CAS). 204 southern Chinese Han participants were divided into two groups according to the carotid intima-media thickness (IMT) of the carotid artery: CAS group (carotid IMT ≥ 1.0 mm) and non-CAS group (carotid IMT < 1.0 mm). Carotid IMT was measured by color Doppler ultrasound. The PDE4D SNP83 polymorphism was determined by SNaPshot technique. Our study found that SNP83 was associated significantly with CAS susceptibility under the dominant, overdominant and codominant models. After adjusting for age, gender, low-density lipoprotein cholesterol, Hemoglobin A1c, cigarette smoking, hypertension history, and diabetes mellitus history, the association still remained significant (dominant model: crude OR = 2.373, 95% CI: 1.268-4.442, P = 0.007; adjusted OR = 3.129, 95% CI: 1.104-8.866, P = 0.032; overdominant model: crude OR = 1.968, 95% CI: 1.043-3.714, P = 0.037; adjusted OR = 2.854, 95% CI: 1.005-8.108, P = 0.049; codominant: crude OR = 2.102, 95% CI: 1.110-3.979, P = 0.023; adjusted OR = 2.984, 95% CI: 1.047-8.502, P = 0.041). Carotid IMT of carriers with CT + CC genotypes was higher than carriers with TT genotype (P = 0.016). Our results indicated that the SNP83/rs966221 located on PDE4D gene was significantly associated between CAS susceptibility and carotid IMT independently of conventional risk factors in a southern Chinese Han population.


Asunto(s)
Pueblo Asiatico/genética , Enfermedades de las Arterias Carótidas/genética , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Alelos , Biomarcadores , Enfermedades de las Arterias Carótidas/diagnóstico , Grosor Intima-Media Carotídeo , China , Estudios de Asociación Genética , Genotipo , Humanos , Factores de Riesgo
7.
PeerJ ; 8: e8380, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32095320

RESUMEN

Pancreatic adenocarcinoma (PAAD), the most common subtype of pancreatic cancer, is a highly lethal disease. In this study, we integrated the expression profiles of splicing factors (SFs) of PAAD from RNA-sequencing data to provide a comprehensive view of the clinical significance of SFs. A prognostic index (PI) based on SFs was developed using the least absolute shrinkage and selection operator (LASSO) COX analysis. The PI exhibited excellent performance in predicting the status of overall survival of PAAD patients. We also used the percent spliced in (PSI) value obtained from SpliceSeq software to quantify different types of alternative splicing (AS). The prognostic value of AS events was explored using univariate COX and LASSO COX analyses; AS-based PIs were also proposed. The integration of prognosis-associated SFs and AS events suggested the potential regulatory mechanisms of splicing processes in PAAD. This study defined the markedly clinical significance of SFs and provided novel insight into their potential regulatory mechanisms.

8.
Acta Crystallogr Sect E Struct Rep Online ; 67(Pt 7): o1562, 2011 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-21836975

RESUMEN

In the title mol-ecule, C(21)H(20)N(2)O(4), the dihedral angle between the phenol ring and the isoindole-1,3-dione mean plane is 69.79 (6)°. The cyclo-hexane ring adopts a chair conformation. Weak inter-molecular O-H⋯O and O-H⋯N inter-actions feature as part of the crystal packing.

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