Publications by authors named "Boyd N"

Objectives: We detail a case of recurrent, postinfectious, cerebellar ataxia associated with a likely pathogenic previously documented gene variant in .

Methods: The patient was identified after her second hospitalization for postinfectious cerebellar ataxia. Genetic testing was performed after discharge.

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Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.

Methods: A multi-center, retrospective study of individuals with DSRD was performed.

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Purpose: Down syndrome regression disorder (DSRD) is a rare neuropsychiatric condition affecting otherwise healthy individuals with Down syndrome. Multiple studies on DSRD have revealed that immunotherapy with intravenous immunoglobulin (IVIg) is both safe and effective, although site of infusion has never been studied. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD receiving home-based infusions.

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Objectives: Intraoperative parathyroid hormone (IOPTH) monitoring has become routine in parathyroid surgery to facilitate less invasive techniques to treat hyperparathyroidism. Despite this, little is known about in vivo IOPTH kinetics, which can greatly affect the reliability of its interpretation.

Methods: A prospective cohort of patients undergoing routine parathyroidectomy was studied.

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Article Synopsis
  • Elevated mammographic density (MD) is a significant risk factor for breast cancer, and this study investigates how factors like childbirth, age at first birth, and breastfeeding relate to MD in a large group of women across different countries.
  • The research analyzed data from 11,755 women aged 35-85 years, focusing on how factors such as the number of births and the timing of the first birth influence measurements of MD.
  • The findings suggest that having more children decreases MD, while older age at first birth is linked to higher MD, particularly in post-menopausal women, highlighting the complex relationships between reproductive factors and breast density.
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Objective: Diet-induced white adipose tissue inflammation is associated with insulin resistance and metabolic perturbations. Conversely, exercise (Exe) protects against the development of chronic inflammation and insulin resistance independent of changes in weight; however, the mechanisms remain largely unknown. We have recently shown that, through adrenergic stimulation of macrophages, exercise promotes resolution of acute peritoneal inflammation by enhancing the biosynthesis of specialized pro-resolving lipid mediators (SPMs).

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Objective: Elastomeric devices or pumps are a valuable tool to deliver outpatient parenteral therapy and have been used for administration of chemotherapy, antibiotics and pain medication. A key determinant of effective treatment is to consider the stability of medicines within these devices. It is widely known that an increase in temperature positively correlates to an increase in drug degradation.

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Down syndrome is the most common genetic cause of intellectual disability and has previously been associated with a variety of autoimmune disorders affecting multiple organ systems. The high prevalence of autoimmune disease, in conjunction with other inflammatory and infectious diseases, in this population suggests an intrinsic immune dysregulation associated with triplication of chromosome 21. Emerging data on the role of chromosome 21 in interferon activation, cytokine production, and activation of B-cell mediated autoimmunity are emerging hypotheses that may explain the elevated prevalence of autoimmune thyroid disease, celiac disease, type I diabetes, autoimmune skin disease, and a variety of autoimmune neurologic conditions.

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  • Down Syndrome Regression Disorder (DSRD) is a rare neurological condition affecting individuals with Down syndrome (DS), presenting with acute neuropsychiatric symptoms and showing potential connections to immune dysregulation.
  • In a study of 41 individuals with DSRD, 20% had de novo variants in immune regulatory genes, with some linked to an interferon response, highlighting a possible genetic factor in disease development.
  • The presence of these pathogenic variants was associated with faster clinical decline, preceding triggers, and MRI abnormalities, suggesting a need for further research on the relationship between immune regulation and DSRD.
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Background: The incidence of thyroid cancer in the United States has risen dramatically since the 1970s, driven by an increase in the diagnosis of small tumors. There is a paucity of published New Mexico (NM) specific data regarding thyroid cancer. We hypothesized that due to New Mexico's unique geographic and cultural makeup, the incidence of thyroid cancer and tumor size at diagnosis in this state would differ from that demonstrated on a national level.

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  • Researchers studied the distribution and population dynamics of the pest Scirtothrips dorsalis in strawberry fields in Florida over two seasons, focusing on their natural predators.
  • Sampling involved collecting leaf and flower samples and setting up sticky traps in designated grid points within four to six different fields, revealing that most thrips and their natural enemies were found at field borders rather than deeper in the fields.
  • The study suggests that managing pest populations by targeting field edges or relocating strawberry fields away from natural hosts may reduce the need for widespread chemical treatments, though more research is needed to validate these strategies.
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Uncontrolled fires place considerable burdens on forest ecosystems, compromising our ability to meet conservation and restoration goals. A poor understanding of the impacts of fire on ecosystems and their biodiversity exacerbates this challenge, particularly in tropical regions where few studies have applied consistent analytical techniques to examine a broad range of ecological impacts over multiyear time frames. We compiled 16 y of data on ecosystem properties (17 variables) and biodiversity (21 variables) from a tropical peatland in Indonesia to assess fire impacts and infer the potential for recovery.

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Introduction: Despite greater needs in rural areas, occupational therapists are maldistributed to urban spaces which limits service access and health outcomes for rural people and communities. Preparation of students for rural practice may improve rural workforce recruitment and retention; however, the range and scope of preparation strategies employed by education providers are unclear. This scoping review aims to understand and describe the range of strategies education services use to prepare occupational therapy students for rural practice across the globe.

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Objective: To determine the prevalence of neuroimaging abnormalities in individuals with Down syndrome regression disorder (DSRD) and evaluate if neuroimaging abnormalities were predictive of therapeutic responses.

Methods: A multicenter, retrospective, case-control study which reviewed neuroimaging studies of individuals with DSRD and compared them to a control cohort of individuals with Down syndrome (DS) alone was performed. Individuals aged 10-30 years and meeting international consensus criteria for DSRD were included.

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Pre-plant soil fumigation is widely applied to control nematodes, soil-borne fungal pathogens, and weeds in vegetable crops. However, most of the research evaluating the effect of fumigants on crop yield and soil microbial communities has been done on single compounds despite growers mainly applying fumigant combinations. We studied the effect of different fumigant combinations (chloropicrin, 1,3-dichloropropene, and metam potassium) on soil properties, crop yield, and the soil bacterial and fungal microbiome for two consecutive years in a plastic-mulched tomato production system in Florida (United States).

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Subverting the host immune response to inhibit inflammation is a key virulence strategy of Yersinia pestis. The inflammatory cascade is tightly controlled via the sequential action of lipid and protein mediators of inflammation. Because delayed inflammation is essential for Y.

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  • - This study explored the long-term outcomes and factors that predict mortality in children under 18 with hypertrophic cardiomyopathy (HCM) associated with various RASopathy syndromes, including Noonan syndrome and others.
  • - Researchers analyzed data from 149 patients over an average follow-up of about 16 years, finding that 15.43% of these children died, with survival rates differing significantly based on the specific RASopathy syndrome.
  • - Key predictors of mortality and sudden cardiac death included the type of RASopathy, symptoms at diagnosis, heart failure presence, and certain heart function measurements, particularly highlighting a milder HCM type within Noonan-like syndrome that still had poorer survival rates.
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The coexistence of brown adipocytes with low and high thermogenic activity is a fundamental feature of brown adipose tissue heterogeneity and plasticity. However, the mechanisms that govern thermogenic adipocyte heterogeneity and its significance in obesity and metabolic disease remain poorly understood. Here we show that in male mice, a population of transcription factor jun-B (JunB)-enriched (JunB) adipocytes within the brown adipose tissue exhibits lower thermogenic capacity compared to high-thermogenic adipocytes.

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Three large multi-center studies have identified the clinical utility of intravenous immunoglobulin (IVIg) in the treatment of Down syndrome regression disorder (DSRD). Yet the tolerability of infusions in individuals with DS and the safety of IVIg remains unknown in this population. This study sought to evaluate the safety and tolerability of IVIg in individuals with DSRD compared to a real-world cohort of individuals with pediatric onset neuroimmunologic disorders.

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Background: Pediatric onset multiple sclerosis (POMS) commonly occurs at the time of various endocrine changes. Evaluation of the impact of endocrine status on disease severity in POMS has not been previously explored.

Objective: This study sought to evaluate if sex and stress hormones in children with POMS impact motor and non-motor diseases severity.

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Objective: The presence of occult nodal metastases in patients with squamous cell carcinoma (SCC) of the oral tongue has implications for treatment. Upwards of 30% of patients will have occult nodal metastases, yet a significant number of patients undergo unnecessary neck dissection to confirm nodal status. This study sought to predict the presence of nodal metastases in patients with SCC of the oral tongue using a convolutional neural network (CNN) that analyzed visual histopathology from the primary tumor alone.

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Background: Plasma levels of vitamin D have been reported to be low in persons with Down syndrome (DS) and existing data is limited to small and homogenous cohorts. This is of particular importance in persons with DS given the high rates of autoimmune disease in this population and the known relationship between vitamin D and immune function. This study sought to investigate vitamin D status in a multi-center cohort of individuals with DS and compare them to individuals with autism spectrum disorder (ASD) and neurotypical (NT) controls.

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Down syndrome, also known as Trisomy 21, is a genetic disorder associated with mild-to-moderate intellectual disability, delays in growth, and characteristic facial features. A wide range of ocular complications are seen in children with Down syndrome, including strabismus, nystagmus, refractive errors, congenital cataracts, the presence of keratoconus, and decreased visual acuity. Early ophthalmic examination is needed for early diagnosis and treatment in patients.

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Article Synopsis
  • - RASopathies contribute to about 20% of childhood hypertrophic cardiomyopathy (HCM) cases and are linked to a risk of sudden cardiac death (SCD), but the specific risk factors for SCD in this group hadn’t been thoroughly researched until now.
  • - The study analyzed 169 children with RASopathy-related HCM across 15 cardiology centers and found that 6.5% experienced SCD or similar events, with many of those categorized as low risk by the existing HCM Risk-Kids model.
  • - Key predictors for SCD identified were unexplained syncope and non-sustained ventricular tachycardia, indicating that the current risk prediction model may not effectively identify risks in this
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