Publications by authors named "Michael Goldberg"

We perceive a stable, continuous world despite drastic changes of retinal images across saccades. However, while objects in daily life appear stable across saccades, stimuli around saccades can be grossly mislocalized. We address this puzzle with our recently proposed circuit model for perisaccadic receptive-field (RF) remapping in LIP and FEF.

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Toys are us (Trus) is the ortholog of mammalian Programmed Cell Death 2-Like (PDCD2L), a protein that has been implicated in ribosome biogenesis, cell cycle regulation, and oncogenesis. In this study, we examined the function of Trus during development. CRISPR/Cas9 generated null mutations in lead to partial embryonic lethality, significant larval developmental delay, and complete pre-pupal lethality.

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Background: Resolution rates of IgE-mediated cow's milk allergy (IgE-CMA) by age 5 years and risk factors for its persistence were previously described.

Objective: To extend follow-up until the end of adolescence.

Methods: This is an extension study of 23 of 54 patients diagnosed with IgE-CMA from a population-based study of 13,019 newborns, who remained allergic at age 5 years.

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Article Synopsis
  • Oral immunotherapy (OIT) has shown to notably enhance the quality of life for children with food allergies, but its effects on adults have not been as extensively researched.
  • In a study involving adults with food allergies who underwent OIT, significant improvements in quality of life were observed using the Food Allergy Quality of Life Questionnaire, particularly in areas related to allergen avoidance, emotional impact, and overall health.
  • The results support the effectiveness of OIT in enhancing the quality of life for adults with food allergies, indicating a need for its broader application in this population.
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Visuomotor association involves linking an arbitrary visual cue to a well-learned movement. Transient inactivation of Crus I/II impairs primates' ability to learn new associations and delays motor responses without affecting the kinematics of the movement. The simple spikes of Purkinje cells in the Crus regions signal cognitive errors as monkeys learn to associate specific fractal stimuli with movements of the left or right hand.

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Objective: While meniscal repair is preferable to meniscectomy, some cases may be at higher risk of failure if repaired. Incorporating fibrin clot (FC) into the repair has been proposed to improve healing rates. The purpose of this study was to determine the failure rates, patient reported outcome measures (PROMs) and complications of FC augmented meniscal repair for cases considered to be at higher risk of failure.

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Background And Objective: Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists.

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Using five complementary short- and long-read sequencing technologies, we phased and assembled >95% of each diploid human genome in a four-generation, 28-member family (CEPH 1463) allowing us to systematically assess mutations (DNMs) and recombination. From this family, we estimate an average of 192 DNMs per generation, including 75.5 single-nucleotide variants (SNVs), 7.

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The lack of comprehensive diagnostics and consensus analytical models for evaluating the status of a patient's immune system has hindered a wider adoption of immunoprofiling for treatment monitoring and response prediction in cancer patients. To address this unmet need, we developed an immunoprofiling platform that uses multiparameter flow cytometry to characterize immune cell heterogeneity in the peripheral blood of healthy donors and patients with advanced cancers. Using unsupervised clustering, we identified five immunotypes with unique distributions of different cell types and gene expression profiles.

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Background: Underrepresented minority groups (URMs) in surgery are not significantly increasing despite evidence suggesting that diversity in health care providers leads to excellent patient outcomes and care. Efforts to increase URM representation in surgical residency programs are essential for addressing disparities and improving health care delivery.

Methods: This retrospective study outlines a three-phase strategy implemented at a large academic-affiliated hospital to increase URM representation in its general surgery residency program.

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Consensus is rapidly building to support a role for the cerebellum beyond motor function, but its contributions to non-motor learning remain poorly understood. Here, we provide behavioral, anatomical and computational evidence to demonstrate a causal role for the primate posterior lateral cerebellum in learning new visuomotor associations. Reversible inactivation of the posterior lateral cerebellum of male monkeys impeded the learning of new visuomotor associations, but had no effect on movement parameters, or on well-practiced performance of the same task.

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The nature and function of perisaccadic receptive field (RF) remapping have been controversial. We use a delayed saccade task to reduce previous confounds and examine the remapping time course in the lateral intraparietal area and frontal eye fields. In the delay period, the RF shift direction turns from the initial fixation to the saccade target.

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Background: Because of the high cross-sensitization among tree nuts, the NUT CRACKER (Nut Co-reactivity-Acquiring Knowledge for Elimination Recommendations) study proposed a diagnostic algorithm to minimize the number of required oral food challenges (OFCs).

Objective: To validate the algorithm for cashew and pistachio allergy and determine markers for allergic severity.

Methods: Patients (n = 125) with a median age of 7.

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Article Synopsis
  • Short tandem repeats (STRs) are areas in the genome where variations are common, mainly due to high mutation rates, which were thought to be linked mostly to errors during DNA replication, particularly in fathers as they age.
  • STR mutation rates were believed to be unaffected by a mother's age due to the way oocyte cell divisions work; however, new findings show a correlation between both parental ages and STR mutations, indicating that DNA damage may also play a role in oocytes.
  • Additionally, differences were found in how STRs mutate between mothers and fathers, suggesting a more complex mechanism of STR mutations than just replication slippage, especially with certain STRs being more influenced by maternal age.
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Short tandem repeats (STRs) are hotspots of genomic variability in the human germline because of their high mutation rates, which have long been attributed largely to polymerase slippage during DNA replication. This model suggests that STR mutation rates should scale linearly with a father's age, as progenitor cells continually divide after puberty. In contrast, it suggests that STR mutation rates should not scale with a mother's age at her child's conception, since oocytes spend a mother's reproductive years arrested in meiosis II and undergo a fixed number of cell divisions that are independent of the age at ovulation.

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Gastrointestinal adverse events are common during oral immunotherapy (OIT) for food allergy and range from immediate IgE-mediated reactions to non-anaphylactic clinical presentations. This review aims to summarize recent findings on non-anaphylactic eosinophil-associated gastrointestinal adverse events during OIT. Two clinical presentations of non-anaphylactic eosinophil-associated gastrointestinal adverse events during OIT are identified, each with a different paradigm for treatment, and distinguished by their time of onset.

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Article Synopsis
  • Compartment syndrome (CS) is a serious medical condition caused by high pressures in body compartments that can lead to reduced blood flow and tissue damage; it has acute types often linked to trauma and chronic types seen in athletes with exercise-induced pain.
  • This text discusses three patients with recurrent CS connected to genetic disorders: one with a RYR1-related condition and two with McArdle disease, highlighting that some presented symptoms years before any genetic diagnosis was made.
  • The article reviews existing literature on CS cases related to genetic neuromuscular disorders and suggests that understanding calcium signaling changes in RYR1 disorders and metabolic issues in McArdle disease is important for recognizing the broader implications of CS in these contexts.
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Article Synopsis
  • - The retina constantly moves, causing visual signals to be spatially inaccurate, so the brain must adjust these signals for accurate perception and action.
  • - The hippocampus plays a crucial role in forming long-term visuospatial memories that are not dependent on the direction of gaze, as shown in studies with rats that struggle to find a hidden escape platform after hippocampal damage.
  • - Proprioception in the primary somatosensory cortex is essential for mice to learn the location of a hidden platform, as it helps them develop long-lasting, gaze-independent spatial awareness from visual information; they perform well when the platform is visibly marked.
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The nature and function of perisaccadic receptive-field (RF) remapping have been controversial. We used a delayed saccade task to reduce previous confounds and examined the remapping time course in areas LIP and FEF. In the delay period, the RF shift direction turned from the initial fixation to the saccade target.

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Article Synopsis
  • - Mutations in the RYR1 gene, which is responsible for the ryanodine receptor in skeletal muscle, are linked to several inherited neuromuscular disorders, but non-skeletal muscle symptoms are rarely reported.
  • - This study presents three patients with Central Core Disease, King-Denborough Syndrome, and Malignant Hyperthermia Susceptibility, who also experienced acute pancreatitis, indicating a potential connection between RYR1 mutations and pancreatic issues.
  • - The findings suggest that individuals with specific RYR1 mutations may be more prone to acute pancreatitis; hence, monitoring for this condition should be part of their medical care strategy.
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Metabolic dysregulation in results in increased macrophage apoptosis or pyroptosis. However, mechanistic links between virulence and bacterial metabolic plasticity remain ill defined. In this study, we screened random transposon insertions of BCG to identify mutants that induce pyroptotic death of the infected macrophage.

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