Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

Background: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown.

Methods: We reviewed the records of 65 patients with SMARCAL1 mutations.

OS032. Pharmacotherapy for pre-eclampsia in low and middle income countries: An analysis of essential medicines lists (EMLS).

Introduction: Pre-eclampsia is the second leading cause of maternal mortality in low and middle income countries (LMIC). Pharmacological management of pre-eclampsia has five major components including antihypertensive therapy for severe and non-severe hypertension, magnesium sulphate for prevention or treatment of eclampsia, treatment of pre-eclampsia-related end-organ complications, antenatal corticosteroids for acceleration of fetal pulmonary maturity given iatrogenic preterm delivery for maternal and/or fetal indications, and labour induction for such indicated deliveries. Essential medicines are defined by the World Health Organization (WHO) as "drugs that satisfy the health care needs of the majority of the population".

Chromosome microarrays in human reproduction.

Background: Chromosome microarray (CMA) testing allows automatic and easy identification of large chromosomal abnormalities detectable by conventional cytogenetics as well as the detection of submicroscopic chromosomal imbalances.

Methods: A PubMed search was performed in order to review the current use of CMA testing in the field of human reproduction. Articles discussing the use of CMA in the preimplantation setting, ongoing pregnancies, miscarriages and patients with reproductive disorders were considered.

The screens culture: impact on ADHD.

Children's use of electronic media, including Internet and video gaming, has increased dramatically to an average in the general population of roughly 3 h per day. Some children cannot control their Internet use leading to increasing research on "internet addiction." The objective of this article is to review the research on ADHD as a risk factor for Internet addiction and gaming, its complications, and what research and methodological questions remain to be addressed.

Early life events, sex, and arterial blood pressure in critically ill infants.

Objective: To determine whether photo-protecting total parenteral nutrition in preterm infants influences arterial blood pressure differently according to gender. Blood pressure is influenced by complex mechanisms of vasomodulation. Oxidants are mediators and effectors in such reactions.

Evidence from multiplex molecular assays for complex multipathogen interactions in acute respiratory infections.

While most diagnostic processes cease with the detection of the first relevant infectious agent, newer multiplexed molecular methods which provide simultaneous analysis of multiple agents may give a more accurate representation of the true pathogen spectrum in these samples. To examine this in the context of respiratory infections, acute-phase respiratory specimens submitted to our clinical diagnostic microbiology/virology laboratory for our routine VIRAP diagnosis protocol during the spring 2006 peak respiratory infection season were processed in parallel by analysis with Genaco (QiaPlex) ResPlex I and ResPlex II molecular diagnostic panels. A total of 1,742 specimens were examined for 21 relevant targets each.

Large-scale copy number variants (CNVs): distribution in normal subjects and FISH/real-time qPCR analysis.

Background: Genomic copy number variants (CNVs) involving >1 kb of DNA have recently been found to be widely distributed throughout the human genome. They represent a newly recognized form of DNA variation in normal populations, discovered through screening of the human genome using high-throughput and high resolution methods such as array comparative genomic hybridization (array-CGH). In order to understand their potential significance and to facilitate interpretation of array-CGH findings in constitutional disorders and cancers, we studied 27 normal individuals (9 Caucasian; 9 African American; 9 Hispanic) using commercially available 1 Mb resolution BAC array (Spectral Genomics).

Direct screening of clinical specimens for multiple respiratory pathogens using the Genaco Respiratory Panels 1 and 2.

We report here on the results of a pilot study comparing our clinical diagnostic virology laboratory's current methods of respiratory pathogen detection against the Genaco Respiratory Infections Panels 1 and 2. These assays employ xMap (Luminex) liquid phase bead conjugated array technology to facilitate automated detection of PCR and RT-PCR products, which provides potential for levels of assay multiplexing above those currently practical with either conventional gel-resolved or real-time methods. In the study presented here we used the Genaco panels to simultaneously screen previously analyzed clinical specimens (nasopharyngeal washings) for twenty-one important pathogens.

The evaluation of the fetal fibronectin test for prediction of preterm delivery in symptomatic patients.

Objective: This study was conducted to evaluate the usefulness of testing for fetal fibronectin (fFN) to rule out the diagnosis of preterm labour in symptomatic patients in a Canadian setting.

Methods: This was a prospective, blinded clinical evaluation of fFN testing in women presenting with threatened preterm labour at between 24 and 34 weeks' gestation at two Canadian tertiary care centres.

Results: Of the 149 women tested, 32 had a positive fFN test.

Doubling calcium and phosphate concentrations in neonatal parenteral nutrition solutions using monobasic potassium phosphate.

Background: Premature infants require high intakes of Ca and P to mimic fetal accretion rates. With the current phosphate salt used, adequate amounts cannot be provided due to the precipitation of Ca and P in TPN solutions.

Objective: To compare monobasic potassium phosphate (monobasic regimen) and monobasic plus dibasic potassium phosphate (dibasic regimen) on calcium phosphate solubility in 5 amino acid products, and to determine whether solubility differences observed in these products can be explained by buffering capacity.

Quality of life of children with attention deficit hyperactivity disorder.

To review the results of studies of quality of life in children with attention deficit hyperactivity disorder, three databases were searched and quality of life findings were reviewed. Comparisons were made with population norms for four studies that used the 50-item parent-reported Child Health Questionnaire (CHQ-PF50). Effect sizes were computed to estimate the clinical importance of differences in quality of life.

Lactic acidemia in human immunodeficiency virus-uninfected infants exposed to perinatal antiretroviral therapy.

Objective: To investigate potential mitochondrial toxicity in HIV-uninfected infants exposed to highly active antiretroviral therapy (HAART) in utero and/or neonatal zidovudine.

Design: A prospective observational study performed in a tertiary referral center for HIV-infected women and their infants and children.

Methods: Plasma lactate was measured repeatedly during the first 6 months of life in a consecutive cohort of infants exposed to HAART in utero and/or neonatal zidovudine.

Osteoporosis: What a clinician expects to learn from a patient's bone density examination.

Osteoporosis has lately become recognized as an important disease on two accounts. On one hand, demographic change has resulted in a greatly increased and increasing burden of morbidity and mortality due to osteoporotic fracturing. On the other hand, lifestyle changes and preventive measures have become recognized as important factors in prevention of both osteoporosis and osteoporotic fractures, while several effective drug treatments have recently become available to treat osteoporosis by increasing bone density and reducing fracture incidence.