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Biomedical subjects

William S Millar

Publications and source records attributed to William S Millar.

7 recordsLinked to original sources

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.

Animals↗

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.

Abnormalities, Multiple↗

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.

Biopsy, Needle↗

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.

Adult↗

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.

Aged↗

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.

Adult↗

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.

Adolescent↗