mutation in mice shows alteration in protein expression level and neuron discharge frequency.

Background: The calcium-binding protein 4 () gene is a newly identified epilepsy-related gene that might be associated with a rare type of genetic focal epilepsy; that is, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). , mutant CABP4 causes an increased inward flow voltage of calcium ions and a significant increase in the electrical signal discharge in hippocampus neurons; however, the role of in epilepsy has not yet been specifically described, and there is not yet a CABP4 mutant animal model recapitulating the epilepsy phenotype.

Methods: We introduced a human missense mutation into the C57BL/6J mouse genome and generated a knock-in strain carrying a glycine-to-aspartic acid mutation in the gene.

Descending aorta translocation for bronchial stenosis caused by shorter interaortic distance.

Background And Aim Of The Study: Numerous anatomic relationships of arteries could cause extrinsic compression of the trachea or bronchus. We report a rare left bronchial stenosis just caused by shorter inter-aortic distance.

Methods: One patient wih recurrent coughing and wheezing was diagnosed as left emphysema.

Posttraumatic growth and postpartum depression in women after childbirth: The moderating role of postpartum negative life events.

Aim: This study aimed to investigate the implications of postpartum negative life events on postpartum depression and posttraumatic growth in women after childbirth.

Methods: A sample of 280 postpartum women at a level III hospital in China provided data on postpartum depression, negative life events, and posttraumatic growth with a cross-sectional design.

Results: The scores of both postpartum depression and negative life events exhibited a quadratic correlation with posttraumatic growth in women after childbirth, and negative life events significantly moderated the associations between depression and overall posttraumatic growth and its three dimensions: personal strength, spirit change, and relating to others.

Trimester-specific prenatal heavy metal exposures and sex-specific postpartum size and growth.

Background: There has been limited research considering the effects of prenatal exposure to multiple heavy metals on early childhood size and growth.

Objective: We evaluated prenatal exposures to 15 heavy metals in association with measures of weight, length, and head circumference (HC) measured at birth, and 1, 3 and 6 months of age in a study of 358 mother-child pairs.

Methods: Urinary concentrations were measured in the first and third trimesters of pregnancy and examined, using sex-stratified general linear models, in association with average standardized size and changes in size (growth) over the first 6 months of life.

A novel missense creatine mutant of , c.464G>A (p.G155D), associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), reduces the expression of CaBP4.

Background: encodes Ca-binding protein 4, a neuronal Ca-binding protein that participates in many cellular processes by regulating the concentration of free Ca ions. variants have been identified as a cause of congenital stationary night blindness (CSNB). However, we recently reported a 4-generation pedigree with 11 individuals diagnosed with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) that were validated with only one novel missense mutation, c.

Maternal urinary cadmium concentrations in early pregnancy in relation to prenatal and postpartum size of offspring.

Background: The impacts of environmental cadmium (Cd) exposure on birth size parameters including weight, length and head circumference (HC) have been reported in multiple studies. However, little remains known of the impacts of maternal Cd exposure during pregnancy on size during in utero development and during early childhood. The aim of this study was to comprehensively investigate impacts of maternal Cd exposure during pregnancy on the size of offspring in utero (from 24 weeks pregnancy) until six months of age.