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.

Rheb is in a high activation state and inhibits B-Raf kinase in mammalian cells.

Rheb (Ras homolog enriched in brain) is a member of the Ras family of proteins, and is in the immediate Ras/Rap/Ral subfamily. We found in three different mammalian cell lines that Rheb was highly activated, to levels much higher than for Ras or Rap 1, and that Rheb's activation state was unaffected by changes in growth conditions. Rheb's high activation was not secondary to unique glycine to arginine, or glycine to serine substitutions at positions 14 and 15, corresponding to Ras residues 12 and 13, since Rheb R14G and R14G, S15G mutants had similarly high activation levels as wild type Rheb.

Influence of aluminum on the regulation of PTH- and 1,25(OH)2D3-dependent pathways in the rat osteosarcoma cell line ROS 17/2.8.

The role of hormonal status in the development of aluminum (Al)-dependent renal osteodystrophy, which is characterized by reduced bone matrix deposition, still remains largely unknown. To address this question, we used the osteoblast-like osteosarcoma cell line ROS 17/2.8 to evaluate the role of Al on parathyroid hormone (PTH)- and 1,25-dihydroxyvitamin D3 (1,25(OH)2D3)-dependent activities in these cells.

The gene for von Recklinghausen neurofibromatosis (NF1) maps to the pericentromeric region of chromosome 17 in Chinese families.

Linkage analysis of six Chinese families with neurofibromatosis type 1 (NF1) confirms the location of the NF1 gene to the region of the proximal long arm of chromosome 17, as in Caucasian populations. The diagnosis of NF1 was made according to internationally accepted criteria. The markers used were D17S71, D17S58, D17S33, and EVI2A.

Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.

Analysis of 36 pedigrees with a positive family history of aminoglycoside antibiotic induced deafness, ascertained in a population of 483,611 in Zhabei District in Shanghai, showed that the susceptibility to antibiotic ototoxicity was transmitted by females exclusively, indicating mitochondrial inheritance. Reanalysis of 18 other published pedigrees confirmed this conclusion.