Novel BCOR mutation in a boy with Lenz microphthalmia/oculo-facio-cardio-dental (OFCD) syndrome.

Lenz microphthalmia syndrome and oculo-facio-cardio-dental syndrome (OFCD) are allelic X-linked syndromes and similarly characterized by ocular, distinctive facial morphology, cardiac, dental malformations and intellectual disability. We report a seven-month-old boy with congenital glaucoma, complex cardiac defect, dextrocardia and cerebral white matter hypoplasia suggestive of Lenz microphthalmia/OFCD syndrome. Molecular testing revealed a novel missense mutation (c.

Neuroprotection by silencing iNOS expression in a 6-OHDA model of Parkinson's disease.

In this study, we investigated the protective role of silenced iNOS expression in neuron death in the nigrostriatal pathway in a 6-OHDA animal model of Parkinson's disease (PD). The animal model was established by intrastriatal infusion of a single dose of 6-OHDA. Silencing of iNOS expression was established by intrastriatal infusion of adenovirus-carried iNOS-targeted small interfering RNA (siRNA).

Infusion of BDNF into the nucleus accumbens of aged rats improves cognition and structural synaptic plasticity through PI3K-ILK-Akt signaling.

To investigate the involvement of the nucleus accumbens (NAc) in cognitive impairment and the therapeutic effects of brain-derived neurotrophic factor (BDNF) in an animal model of cognitive deficit, we infused BDNF into the NAc of cognitively impaired aged rats. Cognition was evaluated by Morris water maze test. Structural synaptic plasticity was measured by Golgi staining.

[Clinical observation of young, middle-aged and elderly women with endometrial carcinoma].

Objective: To explore the clinical features, diagnosis, treatment and prognosis of endometrial carcinoma in young, middle-aged and elderly women.

Methods: We retrospectively analyzed the clinical data of 82 cases of endometrial carcinoma in young, middle-aged women and 33 cases of endometrial cacinoma in elderly women.

Results: The rates of adenocarcinoma in young, middle-aged and elderly groups were 74.