Maternal serum screening: results disclosure, anxiety, and risk perception.

Although increased maternal anxiety following the disclosure of positive second-trimester maternal serum screen (MSS) results has been well documented, how this anxiety correlates with the method of results disclosure has not been well defined. This pilot study aimed to determine how abnormal second-trimester MSS results are disclosed, the level of anxiety experienced by women as a result of this disclosure, and the accuracy of their risk perception. Women referred for prenatal genetic counseling were asked to complete a questionnaire including demographics, standardized Spielberger State-Trait Anxiety Inventory, results disclosure information, and perceived risk.

Expanded newborn screening in Texas: a survey and educational module addressing the knowledge of pediatric residents.

Purpose: To assess the effectiveness of an educational module as a tool for improving the knowledge of pediatric residents about newborn screening and its expansion in Texas.

Methods: The study population consisted of 63 pediatric residents from the University of Texas at Houston, Baylor College of Medicine in Houston, and the University of Texas Medical Branch in Galveston. Residents were invited to participate in the study during daily scheduled didactic lectures in their respective residency programs.

Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy.

Leber Hereditary Optic Neuropathy (LHON) is a maternally inherited blinding disease caused by missense mutations in the mitochondrial DNA (mtDNA). However, incomplete penetrance and a predominance of male patients presenting with vision loss suggest that modifying factors play an important role in the development of the disease. Evidence from several studies suggests that both nuclear modifier genes and environmental factors may be necessary to trigger the optic neuropathy in individuals harboring an LHON-causing mtDNA mutation.

Genes in glucose metabolism and association with spina bifida.

The authors test single nucleotide polymorphisms (SNPs) in coding sequences of 12 candidate genes involved in glucose metabolism and obesity for associations with spina bifida. Genotyping was performed on 507 children with spina bifida and their parents plus anonymous control DNAs from Hispanic and Caucasian individuals. The transmission disequilibrium test was performed to test for genetic associations between transmission of alleles and spina bifida in the offspring (P < .

Mortality in achondroplasia study: a 42-year follow-up.

Achondroplasia (ACH) is the most common dwarfing condition having a prevalence of 1/25,000 live births. An increase in overall mortality, age specific mortality up to age 34 years and heart disease-related mortality was first reported in a 1987 study of a large population of ACH individuals. Since this study, concern about premature death, particularly in young adults, has persisted in the ACH population.

The impact of BRCA1 on spina bifida meningomyelocele lesions.

We examined the BRCA1 gene in 268 patients, and their parents, with a specific diagnosis of spina bifida meningomyelocele (SBMM). We genotyped two intragenic microsatellite markers (BRCA1 D17S1323, BRCA1 D17S1322) and 2 single nucleotide polymorphisms (A1186G, A4956G) in our patients. Transmission disequilibrium testing (TDT) showed significant association with A4956G, but not with A1186G.

Pediatric and neonatal transport teams with and without a physician: a comparison of outcomes and interventions.

Objective: To determine whether a transport team composed of advanced practice nurses could function as effectively as a physician-nurse team, as measured by patient outcome.

Design: Observational cohort study.

Setting: The interfacility transport team at a tertiary care children's hospital.

Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States.

Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational analyses on 325 individuals with definite tuberous sclerosis complex diagnostic status. We identified mutations in 72% (199/257) of de novo and 77% (53/68) of familial cases, with 17% of mutations in the TSC1 gene and 50% in the TSC2 gene.

Improvements in systemic metabolism, anthropometrics, and left ventricular geometry 3 months after bariatric surgery.

Background: Several lines of evidence have suggested a link between obesity and heart failure, including chronic inflammation, increased sympathetic tone, and insulin resistance. The goal of this study was to evaluate the changes in systemic metabolism, anthropometrics, and left ventricular (LV) contraction, as well as geometry, in clinically severe obese women after bariatric surgery.

Methods: Enrollment was offered consecutively to 22 women with clinically severe obesity.

The role of MMP-2 and MMP-9 polymorphisms in sporadic intracranial aneurysms.

Object: Matrix metalloproteinases (MMPs) are a family of endopeptidases that mediate vascular remodeling by degrading extracellular matrix components, such as collagen and elastin. On the basis of accumulating evidence that implicates increased MMP-2 (gelatinase A) and MMP-9 (gelatinase B) amounts and activity in the pathogenesis of aneurysms, the authors investigated the genetic association between polymorphisms in MMP-2 and MMP-9 and sporadic intracranial aneurysms.

Methods: Eight polymorphisms located in MMP-2 and MMP-9 were genotyped, and the association of these variations with disease was assessed in a Caucasian population consisting of 125 patients with intracranial aneurysms and 234 ethnically matched healthy volunteers.

Association of plasma free fatty acids and left ventricular diastolic function in patients with clinically severe obesity.

Background: Obesity is an important contributor to many cardiovascular risk factors and has been associated with abnormalities in cardiac contractile function. Causes of impaired contractile function are not fully understood and may include an oversupply of substrates.

Objective: We tested the hypothesis that metabolic dysregulation may adversely influence cardiac function.

Does having children extend life span? A genealogical study of parity and longevity in the Amish.

Background: The relationship between parity and life span is uncertain, with evidence of both positive and negative relationships being reported previously. We evaluated this issue by using genealogical data from an Old Order Amish community in Lancaster, Pennsylvania, a population characterized by large nuclear families, homogeneous lifestyle, and extensive genealogical records.

Methods: The analysis was restricted to the set of 2,015 individuals who had children, were born between 1749 and 1912, and survived until at least age 50 years.

Inflammatory gene polymorphisms influence risk of postoperative morbidity after lung resection.

Background: Polymorphisms in genes encoding proteins involved in the inflammatory response may lead to a differential response to a noxious stimulus. We hypothesized that proinflammatory alleles at candidate loci would predispose patients undergoing lung resection to cardiopulmonary complications with a presumed inflammatory cause.

Methods: We determined the genotypes at six candidate loci in 155 patients who underwent 160 lung resection operations at our center.

Characterization of an aquaporin-2 water channel gene mutation causing partial nephrogenic diabetes insipidus in a Mexican family: evidence of increased frequency of the mutation in the town of origin.

A Mexican family with partial congenital nephrogenic diabetes insipidus (NDI) that resulted from a mutation in the aquaporin-2 water channel (AQP2) was characterized, and the source of this rare mutation was traced to the family's town of origin in Mexico. Affected individuals with profound polyuria and polydipsia were homozygous for an autosomal recessive missense V168M mutation in the AQP2 gene. Expression in oocytes revealed that, although retained in the endoplasmic reticulum (ER) to a great extent, a considerable amount of the partially functional AQP2-V168M was expressed at the plasma membrane, and that its ER retention was less than AQP2-T126M, a functional mutant in severe recessive NDI.

Using simultaneous equation modeling for defining complex phenotypes.

Background: Interactions between multiple biological phenotypes are difficult to model. Simultaneous equation modelling (SEM), as used in econometric modelling, may prove an effective tool for this problem. Generalized linear models were used to derive the structural equations defining the interactions between cholesterol, glucose, triglycerides and high-density lipoprotein cholesterol (HDL-C).

Genetic susceptibility to enteroaggregative Escherichia coli diarrhea: polymorphism in the interleukin-8 promotor region.

Enteroaggregative Escherichia coli (EAEC) infection can be identified in 26% of travelers with diarrhea and is associated with fecal interleukin (IL)-8 production. We hypothesized that single-nucleotide polymorphisms (SNPs) in the IL-8 gene are associated with EAEC-related symptoms. Fecal IL-8 production and IL-8 SNPs at 5 loci were identified in 69 US students who remained in Mexico for 5 weeks; 23 subjects had EAEC-associated diarrhea, 7 were asymptomatic EAEC carriers, 22 had nonspecific diarrhea, and 17 were asymptomatic without an enteropathogen.

Expression of a 65 kDa oncofetal protein in human prostatic carcinoma.

The concentration of a novel 65 kDa oncofetal protein, p65, was measured in the sera of patients with prostatic malignancies using an enzyme-linked immunosorbent assay. The prostate cancer sera were positive for p65 in 40 out of 59 cases (68%), while only 7 of 79 normal sera (9%) and 12 of 61 sera from patients with benign diseases (20%) were positive. The detection system had an overall sensitivity of 68% and a specificity of 86%.

Sample size for biomarker studies: more subjects or more measurements per subject?

Purpose: In molecular epidemiologic studies, optimizing the use of available biological specimens while minimizing the cost is always a challenge. This is particularly true in pilot studies, which often have limited funding and involve small numbers of biological samples too small for assessment of recently developed biomarkers.

Methods: In this study we examined several statistical approaches for determining how many experimental subjects to use in a biomarker study and how many repeated measurements to make on each sample, given specific funding considerations and the correlated nature of the repeated measurements.

Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice.

Susceptibility to pulmonary fibrosis following environmental insults or cytotoxic cancer therapies has a genetic component. In mouse strains differing in susceptibility to bleomycin-induced lung fibrosis, we show highly significant linkage to only two loci. The first locus on chromosome 17 in the major histocompatibility complex (MHC), LOD = 17.

Accuracy of family history of cancer as reported by men with prostate cancer.

Objectives: To report on the accuracy of probands providing information on specific cancer types in their families and the ability of investigators to document these reports. Accurate information on the health status of family members is critical when studying familial patterns of diseases. However, collecting these data require significant resources.