Dynamic expression of NR2F1 and SOX2 in developing and adult human cortex: comparison with cortical malformations.

The neocortex, the most recently evolved brain region in mammals, is characterized by its unique areal and laminar organization. Distinct cortical layers and areas can be identified by the presence of graded expression of transcription factors and molecular determinants defining neuronal identity. However, little is known about the expression of key master genes orchestrating human cortical development.

Posterior tibial tendon dysfunction: Clinical and magnetic resonance imaging findings having histology as reference standard.

Objective: To investigate the correlation between MRI, clinical tests, histopathologic features of posterior tibial tendon (PTT) dysfunction in patients with acquired adult flatfoot deformity surgically treated with medializing calcaneal osteotomy and flexor digitorum longus tendon transposition.

Materials And Methods: Nineteen patients (11 females; age: 46 ± 15 year, range 18-75) were pre-operatively evaluated using the single heel rise (HR) and the first metatarsal rise (FMR) sign tests. Two reviewers graded the PTT tears on a I-III scale and measured the hindfoot valgus angle on the pre-operative MRI of the ankle.

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome.

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells.

Gestational diabetes affects fetal autophagy.

Autophagy is a catabolic process involved in the preservation of energy homeostasis and its dysregulation has been implicated in the development of metabolic disorders, including diabetes mellitus. Gestational diabetes mellitus represents a risk for fetal morbidity and mortality. The present study focuses on the autophagy process in human diabetic placenta and fetal pancreas, compared with controls.

Stillbirths at Term: Case Control Study of Risk Factors, Growth Status and Placental Histology.

Objective: To investigate the proportion of stillbirths at term associated with abnormal growth using customized birth weight percentiles and to compare histological placental findings both in underweight stillborn fetuses and in live births.

Methods: A retrospective case-control study of 150 singleton term stillbirths. The livebirth control groups included 586 cases of low-risk pregnancies and 153 late fetal growth restriction fetuses.