Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Background: NF-κB essential modulator (NEMO), encoded by IKBKG, is necessary for activation of the ubiquitous transcription factor nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB). Animal studies suggest NEMO is required for NF-κB mediated bone homeostasis, but this has not been thoroughly studied in humans. IKBKG loss-of-function mutation causes incontinentia pigmenti (IP), a rare X-linked disease featuring linear hypopigmentation, alopecia, hypodontia, and immunodeficiency.

[Clinical observation of arthroscopic debridement for acute gouty arthritis of the ankle].

Objective: To evaluate the effects of arthroscopic debridement for acute gouty arthritis of the ankle.

Methods: Forty-one patients with acute gouty arthritis of the ankle were treated under arthroscopy from January 2010 to June 2012. All the patients were male, age in ranging from 28 to 69 years with an average of 43 years.

Prenatal tobacco smoke exposure is associated with childhood DNA CpG methylation.

Background: Smoking while pregnant is associated with a myriad of negative health outcomes in the child. Some of the detrimental effects may be due to epigenetic modifications, although few studies have investigated this hypothesis in detail.

Objectives: To characterize site-specific epigenetic modifications conferred by prenatal smoking exposure within asthmatic children.

25-Hydroxyvitamin D, dementia, and cerebrovascular pathology in elders receiving home services.

Background: Vitamin D deficiency has potential adverse effects on neurocognitive health and subcortical function. However, no studies have examined the association between vitamin D status, dementia, and cranial MRI indicators of cerebrovascular disease (CVD).

Methods: Cross-sectional investigation of 25-hydroxyvitamin D [25(OH)D], dementia, and MRI measures of CVD in elders receiving home care (aged 65-99 years) from 2003 to 2007.

Co-expression of ER-beta and HER2 associated with poorer prognosis in primary breast cancer.

Purpose: To assess the prognostic value of co-expression of estrogen receptor (ER)-beta and human epidermal growth factor receptor 2 (HER2) in primary breast cancer patients in China.

Methods: Tumour specimens from 308 patients undergoing surgery for primary breast cancer were evaluated. Expression of ER-beta and HER-2 was investigated by the immunohistochemistry.