Publications by authors named "Jonathan Bingham"

Context: Osteopathic manipulative treatment (OMT) has been utilized by osteopathic clinicians as primary or adjunctive management for dizziness caused by neuro-otologic disorders. To our knowledge, no current systematic reviews provide pooled estimates that evaluate the impact of OMT on dizziness.

Objectives: We aimed to systematically evaluate the effectiveness and safety of OMT and analogous techniques in the treatment of dizziness.

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The ISB Cancer Genomics Cloud (ISB-CGC) is one of three pilot projects funded by the National Cancer Institute to explore new approaches to computing on large cancer datasets in a cloud environment. With a focus on Data as a Service, the ISB-CGC offers multiple avenues for accessing and analyzing The Cancer Genome Atlas, TARGET, and other important references such as GENCODE and COSMIC using the Google Cloud Platform. The open approach allows researchers to choose approaches best suited to the task at hand: from analyzing terabytes of data using complex workflows to developing new analysis methods in common languages such as Python, R, and SQL; to using an interactive web application to create synthetic patient cohorts and to explore the wealth of available genomic data.

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Motivation: Large scale genomic sequencing is now widely used to decipher questions in diverse realms such as biological function, human diseases, evolution, ecosystems, and agriculture. With the quantity and diversity these data harbor, a robust and scalable data handling and analysis solution is desired.

Results: We present interactive analytics using a cloud-based columnar database built on Dremel to perform information compression, comprehensive quality controls, and biological information retrieval in large volumes of genomic data.

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We are performing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSNG) for subcategorizing the phenotypes and underlying genetic factors involved. Here we report sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal. We found an average of 73.

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Article Synopsis
  • Mutations (DNMs) play a significant role in Autism Spectrum Disorder (ASD), with whole genome sequencing revealing that 75.6% of germline DNMs come from fathers, particularly increasing with paternal age.
  • Clustering of DNMs in ASD cases is more likely to originate from mothers and is often found near elevated mutation rates associated with copy number variations (CNVs).
  • An analysis of DNM patterns shows a higher occurrence of damaging DNMs in ASD cases, including significant contributions from non-coding regions, suggesting that non-coding variants may influence the genetic landscape of ASD.
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We describe a case of Mevalonate Kinase Deficiency (MKD) also known as Hyperimmunoglobulinemia D Syndrome (HIDS) presenting as a Sweet-like syndrome in a 5-week-old with multiple erythematous plaques, fever, aseptic meningitis, and bronchiolitis. The locations of the predominant plaques were periumbilical and periocular, which originally prompted concern for omphalitis and preseptal cellulitis. Histopathology demonstrated a neutrophilic and histiocytic dermatitis with prominent squamous syringometaplasia and leukocytoclasis in the absence of a vasculitis.

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Hyperhidrosis-related to prosthesis use in patients who have suffered a traumatic limb amputation presents itself as a barrier to comfort, prosthesis use and overall quality of life. This review intends to encourage dermatologists to consider the use of botulinum toxin A or B for the treatment of hyperhidrosis in the residual limb and may serve as a stimulus for a modern, in-depth, and more comprehensive study. A review of the literature was conducted using the PubMed database, focusing on hyperhidrosis treatment after traumatic limb amputation.

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Microcystic adnexal carcinoma (MAC) is an uncommon adnexal neoplasm with a predilection for the head and neck. The tumor rarely metastasizes but is locally aggressive and commonly demonstrates perineural invasion. MAC occurs most often in older adults.

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Carbon dioxide (CO2) laser treatment is a common therapeutic modality for many dermatologic conditions. It uses a high energy, infrared beam of light, which selectively targets water-containing tissue resulting in controlled ablative resurfacing. This modality, however, can manifest significant cosmetic side effects.

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Squamoid eccrine ductal carcinoma is an extremely uncommon type of eccrine carcinoma (EC). An important distinguishing feature of EC is potential for metastasis. Eccrine carcinoma has been reported to metastasize in up to 50% of cases.

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Perineural invasion (PNI) is an uncommon manifestation of cutaneous squamous cell carcinoma (SCC). We report a case of recurrent cutaneous SCC with PNI diagnosed both clinically and histologically. We also provide a review the literature.

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Giant congenital melanocytic nevi (GCMN) are a rare type of melanocytic nevus that covers a large body surface, often with satellite nevi scattered on the rest of the skin. There are several complications associated with GCMN, including malignant melanoma and neurocutaneous melanosis. The management of GCMN is very complex because of the cosmetic appearance and the associated psychological distress, the risk of severe complications, and the need for long-term follow-up.

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Background: Simulation-based training has become popular in many surgical residencies for acquiring procedural skills, but simulator use is rare in dermatologic training.

Objective: To evaluate the perceived efficacy of obtaining dermatologic procedural skills using simulators.

Methods And Materials: Opinions of dermatology residents and staff regarding simulator use were assessed using questionnaires completed after a 2-day surgical symposium in which participants were instructed on and practiced with simulators and cadavers.

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Background: Second generation RNA sequencing technology (RNA-seq) offers the potential to interrogate genome-wide differential RNA splicing in cancer. However, since short RNA reads spanning spliced junctions cannot be mapped contiguously onto to the chromosomes, there is a need for methods to profile splicing from RNA-seq data. Before the invent of RNA-seq technologies, microarrays containing probe sequences representing exon-exon junctions of known genes have been used to hybridize cellular RNAs for measuring context-specific differential splicing.

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Genome-wide RNA splicing (with gene expression) can be used to discover variations that drive specific diseases and / or change the susceptibility in individuals to drug responses including tissue specific toxicities. Evidence linking causative SNPs to individual splicing differences between individuals is emerging and this may lead to a better understanding of susceptibilities related to rare drug-induced toxicities. The development of more sensitive genomics tools is expected to further the study of variations in molecular phenotype from alternative splicing of pre-mRNA.

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Mohs micrographic surgery can be unpredictable with respect to the level of difficulty of individual cases, especially when pre-operative information is limited. In a retrospective study, Sahai and Walling found complex tumors as defined by requiring four or more stages to clearance to be associated with: recurrent tumors, basal cell carcinoma (BCC) with aggressive histology, tumors with a pre-operative size greater than 1 cm and tumors on the nose.1 The authors created a simplified system for "triaging" Mohs surgery cases in order to predict case complexity and, thus, be better able to manage the scheduling of those cases.

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Objectives And Methods: Alternative splicing provides proteomic diversity that can have profound effects. The extent, pattern, and roles of alternative splicing in pancreatic cancer have not been systematically investigated. We have utilized a spliceoform-specific microarray and polymerase chain reaction to evaluate all known splice variants in human pancreatic cancer cell lines representing a spectrum of differentiation, from near-normal HPDE6 to Capan-1 and poorly differentiated MiaPaCa2 cells.

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Human ATP-binding cassette (ABC) transporters are proteins that translocate solutes across cellular membranes. They are highly expressed in tissues that represent significant barriers of pharmacologic and toxicologic significance, such as the gastrointestinal tract, liver, kidney and brain, and therefore play a pivotal role in the absorption, distribution and excretion of xenobiotics and in host detoxification processes. This review explores the extent of alternative splicing of ABC transporters, based on studies of individual genes, genetic variation and sequence databases.

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