Variable Presentation of the CYBB Mutation in One Family, Approach to Management, and a Review of the Literature.

Chronic granulomatous disease (CGD) is a primary immunodeficiency disorder marked by abnormal phagocytic function. CGD affects primarily neutrophils and manifests as an early predisposition to severe life-threatening infections. Additionally, patients with CGD are predisposed to unique autoimmune manifestations.

Uncommon Neonatal Skin Lesions.

Certain rashes and cutaneous lesions in a newborn can be clues to more concerning diseases and conditions if recognized and evaluated promptly. Langerhans cell histiocytosis, cutaneous forms of cancer (such as leukemia cutis, neuroblastoma, and rhabdomyosarcoma), developmental abnormalities such as neural tube or spinal dysraphism, and aplasia cutis congenita, nutritional deficiency, and immunodeficiency all have a range of cutaneous findings that will be reviewed herein to guide diagnosis and management. [Pediatr Ann.

Impact of nuchal cord on fetal outcomes, mode of delivery, and management: a questionnaire survey of pregnant women.

Objectives: To explore pregnant women's views on the impact of nuchal cord on fetal outcomes, mode of delivery, and management.

Design: Questionnaire survey.

Setting: Antenatal clinic of two regional hospitals in Hong Kong.

Mycoplasma-associated Stevens-Johnson syndrome in children: retrospective review of patients managed with or without intravenous immunoglobulin, systemic corticosteroids, or a combination of therapies.

Administration of intravenous immunoglobulin (IVIG) to patients with Stevens-Johnson syndrome (SJS) has been controversial. The objective of this study was to evaluate the effectiveness of IVIG, systemic corticosteroids, or both in treating Mycoplasma pneumoniae-associated SJS (mpSJS). Retrospective series of 10 pediatric mpSJS cases were stratified into four treatment groups: IVIG alone, IVIG and systemic corticosteroids together, systemic corticosteroids alone, and supportive care.

Chylomicron-bound LPS selectively inhibits the hepatocellular response to proinflammatory cytokines.

Background/aims: Pretreatment of rodent hepatocytes with chylomicron-bound lipopolysaccharide (CM-LPS) renders these cells unresponsive to subsequent stimulation by proinflammatory cytokines. We sought to test the selectivity of this response.

Methods: Cellular responses to hypoxia, oxidative stress, apoptosis, and heat-shock response, and thermotolerance induced in CM-LPS pretreated hepatocytes were compared with responses in non-pretreated cells.

Lipoprotein-bound endotoxin exerts an immunomodulatory effect on hepatocytes through the lipid A domain of LPS.

Background: We have previously shown that chylomicron (CM)-bound lipopolysaccharide (LPS) inhibits the host innate immune response by rendering hepatocytes tolerant to pro-inflammatory cytokine stimulation. However, LPS is a complex macromolecule containing both lipid and carbohydrate domains. We hypothesized that just as lipid A confers the toxicity of LPS, it is also responsible for the immunoregulatory effect on hepatocytes.

Mutation of weak atrium/atrial myosin heavy chain disrupts atrial function and influences ventricular morphogenesis in zebrafish.

The embryonic vertebrate heart is composed of two major chambers, a ventricle and an atrium, each of which has a characteristic size, shape and functional capacity that contributes to efficient circulation. Chamber-specific gene expression programs are likely to regulate key aspects of chamber formation. Here, we demonstrate that epigenetic factors also have a significant influence on chamber morphogenesis.

The elongation factors Pandora/Spt6 and Foggy/Spt5 promote transcription in the zebrafish embryo.

Precise temporal and spatial control of transcription is a fundamental component of embryonic development. Regulation of transcription elongation can act as a rate-limiting step during mRNA synthesis. The mechanisms of stimulation and repression of transcription elongation during development are not yet understood.