How do providers prioritize prevention? A qualitative study.

Background: Preventive care is an essential element of comprehensive primary care medicine, yet many providers do not address the full range of recommended preventive care services. There is little understanding of how, during time-constrained clinical encounters, providers prioritize preventive care services.

Objectives: To identify and compare how Department of Veterans Affairs (VA) primary care providers (PCPs) prioritized general preventive care services, including HIV testing.

Association of abnormal ovarian reserve parameters with a higher incidence of aneuploid blastocysts.

Objective: To estimate the relationship between hormonal parameters of diminished ovarian reserve and the incidence of aneuploid blastocysts.

Methods: This prospective cohort trial was performed in a private in vitro fertilization clinic. Three hundred seventy-two patients underwent in vitro fertilization with blastocyst biopsy and aneuploidy screening of all 23 chromosome pairs.

Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients.

The combination of trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based technology for comprehensive chromosome screening results in high implantation and live birth rates that could contribute to the practical application of single embryo transfer for infertility patients.

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

Purpose: The restricted genetic diversity and homogeneous molecular basis of Mendelian disorders in isolated founder populations have rarely been explored in epilepsy research. Our long-term goal is to explore the genetic basis of epilepsies in one such population, the Gypsies. The aim of this report is the clinical and genetic characterization of a Gypsy family with a partial epilepsy syndrome.

Mapping the progression of progranulin-associated frontotemporal lobar degeneration.

Background: A 55-year-old woman was followed over a 13-year period as part of a longitudinal study of people at risk for familial dementia. She was a member of a family with an autosomal dominant familial dementia that fulfilled consensus criteria for frontotemporal lobar degeneration. The patient was initially asymptomatic but developed progressive behavioral and cognitive decline characterized by apathy, impaired emotion recognition, mixed aphasia and parietal lobe dysfunction.

Extratemporal ictal clinical features in hippocampal sclerosis: their relationship to the degree of hippocampal volume loss and to the outcome of temporal lobectomy.

Purpose: Since extratemporal clinical features in patients with unilateral hippocampal sclerosis (HS) are likely to indicate aberrant ictal spread or a more extensive epileptogenic zone, we asked whether such features are associated with more severe HS and a worse outcome following temporal lobectomy.

Patients And Methods: We reviewed all patients (174) who had undergone temporal lobectomy for histologically proven unilateral HS related temporal lobe epilepsy between 1997-2005 at the National Hospital for Neurology and Neurosurgery. We divided patients into those with severe HS (side-to-side ratio < 0.

Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene.

Objective: To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1).

Design: Case series.

Management of poor responders: can outcomes be improved with a novel gonadotropin-releasing hormone antagonist/letrozole protocol?

Objective: To compare the efficacy of a microdose GnRH agonist flare (ML) with a GnRH antagonist/letrozole (AL) protocol before IVF-ET in poor responders.

Design: Prospective controlled trial.

Setting: Private assisted reproductive technology center.

The dysmorphic cervical spine in Klippel-Feil syndrome: interpretations from developmental biology.

The authors conducted a study to identify radiological patterns of Klippel-Feil syndrome (KFS), and they present a new interpretation of the origin of these patterns based on recent advances in understanding of embryonic development of the spine and its molecular genetic control. The authors studied radiographs and computerized tomography (CT) scans as well as magnetic resonance images or CT myelograms obtained in 30 patients with KFS who were referred for treatment between 1982 and 1996; the patients had complained of various neuroorthopedic complications. Homeotic transformation due to mutations or disturbed expression of Hox genes is a possible mechanism responsible for C-1 assimilation, which was found to have occurred in 19 cases (63%).

Role of SOX2 mutations in human hippocampal malformations and epilepsy.

Purpose: Seizures are noted in a significant proportion of cases of de novo, heterozygous, loss-of-function mutations in SOX2, ascertained because of severe bilateral eye malformations. We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies.

Methods: We examined high-resolution MRI scans in four patients with SOX2 mutations, two of whom had seizures.

Visual assessment of atrophy on magnetic resonance imaging in the diagnosis of pathologically confirmed young-onset dementias.

Objectives: To investigate the diagnostic accuracy of visual inspection of magnetic resonance imaging (MRI) in a range of pathologically confirmed diseases causing young-onset dementia and to assess the sensitivity and specificity of atrophy patterns for Alzheimer disease (AD) and frontotemporal lobar degeneration (FTLD).

Design: Sixty-two patients with pathologically confirmed diseases that may present as young-onset dementia were selected from a biopsy and postmortem series. The first diagnostic T1-weighted volumetric MRI was obtained for each patient, together with images from 22 healthy control subjects.

Magnetic resonance imaging signatures of tissue pathology in frontotemporal dementia.

Background: The pathologic substrates of frontotemporal dementia (FTD) are difficult to predict in vivo.

Objective: To determine whether different pathologic substrates of FTD have distinct patterns of regional atrophy on magnetic resonance imaging (MRI).

Design: Retrospective case study.

Effect of myomectomy on the outcome of assisted reproductive technologies.

Objective: To evaluate the impact of myomectomy on in vitro fertilization-embryo transfer (IVF-ET) and oocyte donation cycle outcome.

Design: Retrospective case-controlled study of consecutive fresh IVF-ET and oocyte donation patients during a 2-year interval.

Setting: Private assisted reproductive technology (ART) center.

Delineating the sites and progression of in vivo atrophy in multiple system atrophy using fluid-registered MRI.

We describe the pattern and progression of atrophy delineated using fluid registration of serial magnetic resonance imaging scans in a case of multiple system atrophy (MSA). The in vivo findings were consistent with those found at postmortem, including significant supratentorial atrophy concurrent with an unusual degree of cognitive impairment for MSA.

Polymicrogyria and absence of pineal gland due to PAX6 mutation.

Identification of genes involved in human cerebral development is important for our understanding of disorders with potential neurodevelopmental causes such as epilepsy and learning disability. Murine models suggest that PAX6 plays a key role in human brain development. With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria.

Histology of the craniocervical junction in chronic rheumatoid arthritis: a clinicopathologic analysis of 33 operative cases.

Study Design: A histologic review of surgical specimens with clinical and radiographic correlations.

Objective: To analyze the histopathology at the craniocervical junction in chronic rheumatoid arthritis (RA).

Summary Of Background Data: It has been assumed that the tissue identified on radiography at the craniocervical junction causing anterior spinal cord compression in patients with chronic RA is hypertrophic rheumatoid synovium.

Rheumatoid arthritis of the cervical spine: current techniques for management.

The incidence of rheumatoid arthritis in the European and North American population is significant. Rheumatoid arthritis can result in serious damage to the cervical spine and the central neuraxis, ranging from mild instability to myelopathy and death. Aggressive conservative care should be established early.

[Molecular genetic background of developmental bony malformations at the craniocervical junction and cervical spine].

In this review a new interpretation of the origin of bony developmental malformations affecting the craniocervical junction and the cervical spine is presented based on recent advances in the understanding of embryonic development of the spine and its molecular genetic control. Radiographs, CT and MRI scans or CT myelograms of patients with Klippel-Feil syndrome were used for demonstration. Detailed clinical and radiological analysis of these patients was published earlier [David KM, Stevens JM, Thorogood P, Crockard HA.

Mapping the evolution of regional atrophy in Alzheimer's disease: unbiased analysis of fluid-registered serial MRI.

Alzheimer's disease (AD) is characterized by progressive cerebral atrophy, which may be assessed by using volumetric MRI. We describe a voxel-based analysis of nonlinear-registered serial MRI to demonstrate the most statistically significant (P < 0.001) regions of change at different stages of the disease.