Feed and Wrap MRI Technique in Infants.

The feed and wrap technique refers to the use of feeding and swaddling to induce natural sleep in infants. It can be used prior to an magnetic resonance imaging (MRI) scan, avoiding sedation or anesthesia. We performed a retrospective review of feed and wrap MRI scans in infants 3 months or younger over a 2-year period at our center (279 scans) to evaluate the efficacy of this technique. Of scan results reviewed, 79% addressed the clinical question, 20% partially addressed the clinical question, and 1% were technically inadequate. History of preterm birth (odds ratio [OR] = 2.368; P = .032) and spine MRI (OR = 2.821; P = .001) were associated with a less-successful scan outcome. The feed and wrap technique can be used successfully in infants undergoing MRI; however, it may be less successful in preterm infants and those requiring spinal MRI. A standardized technique performed by experienced personnel may avoid anesthesia and sedation in infants who require MRI.

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

OBJECTIVE: Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. METHOD: We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. RESULTS: We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. CONCLUSION: These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population.

Asymmetry analysis in rodent cerebral ischemia models.

RATIONALE AND OBJECTIVES: An automated method for identification and segmentation of acute/subacute ischemic stroke, using the inherent bi-fold symmetry in brain images, is presented. An accurate and automated method for localization of acute ischemic stroke could provide physicians with a mechanism for early detection and potentially faster delivery of effective stroke therapy. MATERIALS AND METHODS: Segmentation of ischemic stroke was performed on magnetic resonance (MR) images of subacute rodent cerebral ischemia. Eight adult male Wistar rats weighing 225-300 g were anesthetized with halothane in a mix of 70% nitrous oxide/30% oxygen. Animal core temperature was maintained at 37 degrees C during the entire surgical procedure, including occlusion of the middle cerebral artery (MCA) and the 90-minute post-reperfusion period. To confirm cerebral ischemia, transcranial measurements of cerebral blood flow were performed with laser-Doppler flowmetry, using 15-mm flexible fiberoptic Doppler probes attached to the skull over the MCA territory. Animal MR scans were performed at 1.5 T using a knee coil. Three experts performed manual tracing of the stroke regions for each rat, using the histologic-stained slices to guide delineation of stroke regions. A strict tracing protocol was followed that included multiple (three) tracings of each stroke region. The volumetric MR image data were processed for each rat by computing the axis of symmetry and extracting statistical dissimilarities. A nonparametric Wilcoxon rank sum test operating on paired windows in opposing hemispheres identified seeds in the pixels exhibiting statistically significant bi-fold mirror asymmetry. Two brain reference maps were used for analysis: an absolute difference map (ADM) and a statistical difference map (SDM). Although an ADM simply displays the absolute difference by subtracting one brain hemisphere from its reflection, SDM highlights regions by labeling pixels exhibiting statistically significant asymmetry. RESULTS: To assess the accuracy of the proposed segmentation method, the surrogate ground truth (the stroke tracing data) was compared to the results of our proposed automated segmentation algorithm. Three accuracy segmentation metrics were utilized: true-positive volume fraction (TPVF), false-positive volume fraction (FPVF), and false-negative volume fraction (FNVF). The mean value of the TPVF for our segmentation method was 0.8877; 95% CI 0.7254 to 1.0500; the mean FPVF was 0.3370, 95% CI -0.0893 to 0.7633; the mean FNVF was 0.1122, 95% CI -0.0502 to 0.2747. CONCLUSIONS: Unlike most segmentation methods that require some degree of manual intervention, our segmentation algorithm is fully automated and highly accurate in identifying regions of brain asymmetry. This approach is attractive for numerous neurologic applications where the operator's intervention should be minimal or null.

Natural language processing and visualization in the molecular imaging domain.

Molecular imaging is at the crossroads of genomic sciences and medical imaging. Information within the molecular imaging literature could be used to link to genomic and imaging information resources and to organize and index images in a way that is potentially useful to researchers. A number of natural language processing (NLP) systems are available to automatically extract information from genomic literature. One existing NLP system, known as BioMedLEE, automatically extracts biological information consisting of biomolecular substances and phenotypic data. This paper focuses on the adaptation, evaluation, and application of BioMedLEE to the molecular imaging domain. In order to adapt BioMedLEE for this domain, we extend an existing molecular imaging terminology and incorporate it into BioMedLEE. BioMedLEE's performance is assessed with a formal evaluation study. The system's performance, measured as recall and precision, is 0.74 (95% CI: [.70-.76]) and 0.70 (95% CI [.63-.76]), respectively. We adapt a JAVA viewer known as PGviewer for the simultaneous visualization of images with NLP extracted information.

The neurologic aspects of PHACE: case report and review of the literature.

PHACE syndrome is a neurocutaneous disorder characterized by large cervicofacial infantile hemangiomas and associated anomalies of the brain, cerebrovasculature, aorta, heart, and eyes. Two categories of neurologic disease are observed among PHACE patients: congenital malformations of the cerebellum, cerebrum, and cerebral vasculature and progressive stenoses and occlusions of principal cerebral arteries. A subgroup of patients develops a moyamoya-like vasculopathy and consequent ischemic strokes. This report details the clinical course and management of a young female with PHACE and reviews the various neurologic aspects of this neurocutaneous disorder. This patient presented with high-grade stenoses of the internal carotid arteries bilaterally, formation of extensive vascular collaterals, and multiple ischemic strokes. She underwent bilateral pial-synangiosis procedures and has not had stroke recurrence in 2 years of follow-up. The presence of a characteristic infantile hemangioma necessitates further evaluation for the extracutaneous features of PHACE. In cases of steno-occlusive vasculopathy, we recommend early consideration of encephaloduroarteriosynangiosis or a commensurate revascularization procedure.

Netherton syndrome with extensive skin peeling and failure to thrive due to a homozygous frameshift mutation in SPINK5.

BACKGROUND: Netherton syndrome (NTS) is a rare autosomal recessive multisystem disorder characterized by congenital erythroderma and ichthyosis, hair shaft abnormalities and immune dysregulation. The disorder is caused by deleterious mutations in the SPINK5 gene, encoding the serine protease inhibitor LEKTI. OBJECTIVE: Our objective was to investigate if the erythrodermic variant of peeling skin syndrome is also caused by SPINK5 mutations and to study the consequences of the disease on infantile brain development. METHODS: In an infant with extensive erythroderma, peeling skin and failure to thrive, we analyzed the SPINK5 gene for pathogenic mutations by direct DNA sequencing and performed repeated brain MRI studies with diffusion-weighted imaging. RESULTS: We identified a homozygous 4-base-pair insertion in exon 5 of SPINK5, which introduces a premature termination codon and appears to be a common mutation among West Indies islanders. MRI analyses revealed a persistent diffuse volume loss. CONCLUSION: Our results confirm that early truncation mutations of the coding sequence of SPINK5 produce a severe phenotype and that generalized peeling skin is one of the manifestations of NTS. We further demonstrate for the first time that NTS may be associated with MRI abnormalities indicative of a permanent tissue injury of the brain.

Cancer outcomes at the Hufeland (complementary/alternative medicine) klinik: a best-case series review.

PURPOSE: A best-case series review is an efficient tool with which to screen complex complementary and alternative treatments for cancer as candidates for further study. STUDY DESIGN: The National Cancer Institute and other agencies have adopted the best-case series method to evaluate cancer treatments involving complementary and alternative medicine (CAM) for further study. The authors conducted a best-case series review of the Hufeland Klinik. Established in 1985 in Bad Mergentheim, Germany, this facility treats more than 500 cancer patients per year. Hufeland treatment includes dietary modification, injections, ozone therapy, active fever therapy, psychotherapy, and sometimes hormone therapy and/or low-dose chemotherapy. The goal of the treatment is to prolong survival and to maintain good quality of life. METHODS: The clinic provided summaries of 27 cases in which patients with longer than expected survival had agreed to make their medical records available for review. The review involved pathologic confirmation of disease and radiologic confirmation of complete response (CR) or partial response (PR) not attributable to conventional treatment. RESULTS: Based on the summaries and an exhaustive 2-year search for medical records, slides, and imaging data, 12 of 27 cases were selected for full review, and 5 (3 CRs and 2 PRs) were judged best cases. CONCLUSION: Most patients with common cancers receive conventional treatment before coming to Hufeland, and many are treated with chemotherapy and/or hormonal therapy while there. Hence, only a few could be considered for review. With 5 of 12 patients showing a treatment response, the authors conclude that the Hufeland treatment merits further study. They also recommend the development of criteria with which to evaluate best-case series reviews of complex CAM treatments for patients with advanced cancer.

Concurrent sino-orbital aspergillosis and cerebral nocardiosis.

A 79-year-old man with myelodysplastic syndrome developed a right optic neuropathy with optic disc edema and intractable periocular pain, one month after undergoing removal of a gangrenous gallbladder. Although results of a temporal artery biopsy were negative, he was treated with prednisone for presumed temporal arteritis. Attempts at tapering the prednisone dose led to recurrence of periocular pain. On neuro-ophthalmologic evaluation six months after the prednisone treatment was begun, he had developed right fourth and sixth cranial nerve palsies, and magnetic resonance imaging demonstrated a right orbital apex mass. Trans-sphenoidal biopsy revealed Aspergillus fumigatus. During treatment of aspergillosis, the patient developed a left hemiparesis. Magnetic resonance imaging disclosed multiple ring-enhancing cerebral masses. Biopsy revealed Nocardia asteroides. The patient was successfully treated for both infections with recovery of neurologic function except for the right optic neuropathy. Although immunocompromised patients are known to be subject to multiple infections, this may be the first reported case of concurrent sino-orbital aspergillosis and cerebral nocardiosis.

MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy.

OBJECTIVE: The purpose of this study was to retrospectively review MR images of the brain in five patients diagnosed with mitochondrial neurogastrointestinal encephalomyopathy. CONCLUSION: Our research supports previously reported findings of confluent abnormal cerebral white matter in patients with mitochondrial neurogastrointestinal encephalomyopathy. In contrast to prior studies, our cohort of five patients showed that involvement of the corpus callosum as well as the capsular white matter, basal ganglia, thalami, midbrain, pons, and cerebellar white matter is not rare and does not preclude the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.

Chronic submasseteric abscess: anatomic, radiologic, and pathologic features.

Herein we present five cases of submasseteric abscess that most commonly occurred in patients with a history dental disease. CT has been the main imaging method for diagnosing lesions in the masticator space and adjacent to the mandible; however, we found that, in some of our cases, CT defined the lesion poorly or not at all. In some cases, MR imaging defined the lesion better. Radiologic manifestations of this condition and pathologic correlations are discussed.