Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.

Background: Valosin-containing protein (VCP) disease, caused by mutations in the gene, results in myopathy, Paget's disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype-phenotype correlation data are limited. This study characterises patients with mutations in gene and investigates genotype-phenotype correlations.

Strategies to Promote Nurses' Engagement in Clinical Research: Description of Two Nurse Scholar Programs.

Innovative programs are needed to build a pipeline of future nurse scientists necessary to generate practice-based evidence for optimal healthcare and to address the serious shortage of PhD-prepared nurses. This paper describes two nurse scholar programs based in one large, Magnet® designated healthcare institution that aim to provide clinical registered nurses (RNs) with mentored research opportunities in order to ultimately build an internal pipeline of practice-based nurse scientists. The Clinical Nurse Scholar Program provides clinical RNs the opportunity to conduct a research study under the mentorship of a senior nurse scientist.

Home Monitoring for Fetal Heart Rhythm During Anti-Ro Pregnancies.

Background: Fetal atrioventricular block (AVB) occurs in 2% to 4% of anti-Ro antibody-positive pregnancies and can develop in <24 h. Only rarely has standard fetal heart rate surveillance detected AVB in time for effective treatment.

Objectives: Outcome of anti-Ro pregnancies was surveilled with twice-daily home fetal heart rate and rhythm monitoring (FHRM) and surveillance echocardiography.

Serotype IV and invasive group B Streptococcus disease in neonates, Minnesota, USA, 2000-2010.

Group B Streptococcus (GBS) is a major cause of invasive disease in neonates in the United States. Surveillance of invasive GBS disease in Minnesota, USA, during 2000-2010 yielded 449 isolates from 449 infants; 257 had early-onset (EO) disease (by age 6 days) and 192 late-onset (LO) disease (180 at age 7-89 days, 12 at age 90-180 days). Isolates were characterized by capsular polysaccharide serotype and surface-protein profile; types III and Ia predominated.

Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells.

Background: Severe mucopolysaccharidosis type I (Hurler syndrome) is an autosomal recessive lysosomal storage disease of childhood that results in accumulation of glycosaminoglycans within cardiac valves and consequent valve dysfunction. Valve thickening in mucopolysaccharidosis type I (Hurler syndrome) is due, in part, to the presence of glycosaminoglycan-laden cells (the so-called "clear" or "Hurler" cells) within the valve that remain largely unstudied with respect to identity, origin, and function. We hypothesized that the "clear" or "Hurler" cells within the atrioventricular valves from individuals with untreated mucopolysaccharidosis type I are activated valvular interstitial cells.

Opportunities afforded by the study of unmyelinated nerves in skin and other organs.

Neurological practice is mainly focused on signs and symptoms of disorders that involve functions governed by myelinated nerves. Functions controlled by unmyelinated nerve fibers have necessarily remained in the background because of the inability to consistently stain, image, or construct clinically applicable neurophysiological tests of these nerves. The situation has changed with the introduction of immunohistochemical methods and confocal microscopy into clinical medicine, as these provide clear images of thin unmyelinated nerves in most organs.

Single dose versus fractionated stereotactic radiotherapy for meningiomas.

Objective: To evaluate the safety and efficacy of stereotactic radiosurgery (SRS) compared to fractionated stereotactic radiation therapy (FSRT) for meningiomas treated over a seven year period.

Methods And Materials: Of the 53 patients (15 male and 38 female) with 63 meningiomas, 35 were treated with SRS and the 18 patients with tumors adjacent to critical structures or with large tumors were treated with FSRT. The median doses for the SRS and the FSRT groups were 1400 cGy (500-4500 cGy) and 5400 cGy (4000-6000 cGy) respectively.

Does the extent of surgery have an impact on the survival of patients who receive postoperative radiation therapy for supratentorial low-grade gliomas?

We evaluate the impact of extent of surgery (EOS) on survival of patients with supratentorial nonpilocytic low-grade gliomas (LGG) treated with postoperative radiation therapy (PORT). Sixty-five patients with pathologically confirmed supratentorial nonpilocytic LGG (36 astrocytomas and 29 oligodendrogliomas) were treated with PORT after different extents of surgery: 12 gross total resections (GTR), 27 minimal or subtotal resections (MR/SR), and 26 biopsies (B). EOS was confirmed with postoperative imaging.

Delayed cerebrovascular complications of intrathecal colloidal gold.

Objective: Therapy with intrathecal colloidal gold has been used in the past as an adjunct in the treatment of childhood neoplasms, including medulloblastoma and leukemia. We describe the long-term follow-up period of a series of patients treated with intrathecal colloidal gold and emphasize the high incidence of delayed cerebrovascular complications and their management.

Methods: Between 1967 and 1970, 14 children with posterior fossa medulloblastoma underwent treatment at the University of Minnesota.

Magnetic resonance imaging and permanent cosmetics (tattoos): survey of complications and adverse events.

Purpose: To use a survey to determine the incidence of complications and adverse events in individuals with permanent cosmetics (e.g., tattooed eyeliner, eyebrows, lips, cheeks, etc.

Bilateral lateral rhinotomy incisions for medial maxillectomies in the management of pediatric invasive fungal sinusitis.

Objective: To determine if simultaneous, bilateral lateral rhinotomies for medial maxillectomies would result in central skin or bone loss in pediatric patients with invasive fungal disease.

Study Design: Retrospective chart review.

Setting: Tertiary care children's hospital.

Metastatic head and neck squamous cell carcinoma to the brain.

Background: To evaluate the natural history of patients with metastatic squamous cell carcinoma (SCCA) of the head and neck to the brain.

Methods: A retrospective review of patients with brain metastases treated over a 20-year period identified five that had a head and neck SCCA primary.

Results: Five cases of patients with SCCA of the head and neck that developed brain metastases are presented in detail.

Recurrent congenital diaphragmatic hernia: A novel repair.

Background/purpose: Repair of recurrent diaphragmatic hernia continues to be a difficult problem. An innovative method using a nonabsorbable polypropylene prosthetic mesh plug placed via the thoracic approach using minimal dissection is presented.

Methods: A retrospective analysis showed 39 children with congenital diaphragmatic hernia (CDH) who underwent repair between January 1997 and March 2000.

Congenital pericardial defect and concomitant coronary artery disease.

Chest pain is the most common presenting symptom among patients with congenital pericardial defects. A delay in diagnosis of a congenital pericardial defect occurred in a patient because he had concomitant atherosclerotic coronary artery disease. Multiple radiological studies had suggested the diagnosis.

Perfusion MR neuroimaging in patients undergoing balloon test occlusion of the internal carotid artery.

Background And Purpose: We sought to investigate whether the combination of conventional, diffusion-weighted, and perfusion-weighted MR imaging increases the diagnostic accuracy of balloon test occlusion of the internal carotid artery. We describe perfusion anomalies and patterns of enhancement seen in areas of altered brain perfusion during MR-monitored temporary balloon occlusion of the internal carotid artery.

Methods: Nine patients underwent balloon occlusion testing under standard angiographic conditions with continuous clinical and EEG monitoring.

Flt3 ligand (FL) treatment of murine donors does not modify graft-versus-host disease (GVHD) but FL treatment of recipients post-bone marrow transplantation accelerates GVHD lethality.

Flt3 ligand (FL) is a hematopoietic cytokine that has been shown to facilitate the expansion of dendritic cells (DCs) and the generation of antitumor immune responses. In addition, the use of FL in mobilizing peripheral blood progenitor cells is being investigated. In the present study, we sought to quantify the influence of FL-treated donor cells on graft-versus-host disease (GVHD).

Securing cochlear implants to the skull: two alternate methods.

In view of the various problems encountered with the traditional methods of securing cochlear implants--including dural tear and suture dissolution following infection--we devised two alternate methods of performing this procedure. We use a titanium mesh or a Gore-Tex patch secured with two 4-mm screws to fix the receiver to the skull. No patient who has undergone either of these procedures at our institution has experienced any of the complications that are associated with the older silk, nylon, and Dacron sutures.

Pre-transplant corticosteroid use and outcome in lung transplantation.

Background: The early experience of lung transplantation was plagued with airway anastomotic complications. The use of corticosteroids in the pre-transplant period has been implicated as a major contributing factor in bronchial dehiscence, and many patients have been denied transplantation on the basis of corticosteroid use. We conducted the current study to assess the risks associated with pre-transplant corticosteroid use.

Reoperative revascularization of a left internal mammary artery ostial stenosis.

A severe ostial stenosis of the left internal mammary artery graft was responsible for unstable angina in a patient with a previous coronary artery bypass graft. Successful revascularization of the lesion was achieved with a subclavian artery-to-left internal mammary artery bypass using a saphenous vein conduit. This procedure was performed through a left thoracotomy incision to avoid potential hazards of a redo median sternotomy.

Carotid stenting and "extarterectomy" in the management of head and neck cancer involving the internal carotid artery: technical case report.

Objective And Importance: Head and neck cancer that invades the internal carotid artery (ICA) represents a significant management challenge. We describe a novel technique that allows for aggressive tumor removal without disrupting blood flow through the affected ICA.

Clinical Presentation: A 62-year-old man was referred to our institution for management of a neck malignancy involving the ICA.