Publications by authors named "Groff A"

The "inactive" X chromosome (Xi) has been assumed to have little impact, in , on the "active" X (Xa). To test this, we quantified Xi and Xa gene expression in individuals with one Xa and zero to three Xis. Our linear modeling revealed modular Xi and Xa transcriptomes and significant Xi-driven expression changes for 38% (162/423) of expressed X chromosome genes.

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The American Academy of Pediatrics has previously expressed concerns about the thematic content of television (TV) and the amount of time children spend viewing TV. The objective of this study was to determine the positive and negative themes depicted in a select number of TV shows targeted toward adolescents. We analyzed the thematic content depicted in the first season of 26 Netflix TV shows.

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Drug reaction with eosinophilia with systemic symptoms (DRESS) syndrome is a rare drug reaction often presenting with both cutaneous manifestations and potentially life-threatening internal organ involvement. The precise incidence of DRESS is still unclear as it is easily missed due to its highly variable clinical presentation. However, with an expected mortality rate of approximately 10 percent, it is important for clinicians to be familiar with pharmacologic etiologies commonly implicated in the pathogenesis.

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The coronavirus disease 2019 (COVID-19) is not just a disease of the respiratory system. The virus can affect the gastrointestinal (GI) tract as well. Recognizing the various manifestations in every organ system is important because these manifestations can contribute to community-based transmission.

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Rehabilitation after significant acquired brain injury (ABI) to address complex independent activities of daily living and return to family and community life is offered primarily after initial hospitalization in outpatient day treatment, group home, skilled nursing, and residential settings and in the home and community of the person served. The coronavirus 2019 pandemic threatened access to care and the health and safety of staff, persons served, and families in these settings. This article describes steps taken to contain this threat by 7 leading posthospital ABI rehabilitation organizations.

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One of the major concerns of the health care community and the public surrounding the SARS-CoV-2 pandemic is the availability and use of ventilators. Unprecedented surges of patients presented to intensive care units across the country, with older adults making up a large proportion of the patient population. This paper illustrates contemporary approaches to critical illness myopathy (CIM), critical illness polyneuropathy (CIP), and critical illness polyneuromyopathy (CIPNM) in older patients, including incidence, risk factors, mechanisms for pathology, diagnosis, contemporary treatment approaches, and outcomes.

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Background: Several long noncoding RNAs (lncRNAs) have been shown to function as components of molecular machines that play fundamental roles in biology. While the number of annotated lncRNAs in mammalian genomes has greatly expanded, studying lncRNA function has been a challenge due to their diverse biological roles and because lncRNA loci can contain multiple molecular modes that may exert function.

Results: We previously generated and characterized a cohort of 20 lncRNA loci knockout mice.

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The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) outbreak that began in 2019 and spread rapidly across the globe has been observed to cause acute lung injury and multiorgan system failure. While common symptoms are flu-like, this population has been observed to decompensate at an alarmingly rapid rate to severe hypoxia. SARS-CoV-2 infects host cells by targeting the angiotensin-converting enzyme 2 (ACE2) receptor, which is present on endothelial cells in the lung, heart, kidney, and gastrointestinal tissue.

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The novel coronavirus disease 2019 (COVID-19) first reported in Wuhan, China, in 2019 has evolved into a pandemic and public health emergency, leading to extensive fatalities and halting global economies. Older adults have emerged as a critically vulnerable population as earlier data suggests a disproportionately increased incidence of COVID-19 in this population, as well as worse health outcomes. Disease attenuating behaviors such as social distancing has been encouraged and mandated across different countries leading to downstream economic ramifications.

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Deriving mechanisms of immune-mediated disease from GWAS data remains a formidable challenge, with attempts to identify causal variants being frequently hampered by strong linkage disequilibrium. To determine whether causal variants could be identified from their functional effects, we adapted a massively parallel reporter assay for use in primary CD4 T cells, the cell type whose regulatory DNA is most enriched for immune-mediated disease SNPs. This enabled the effects of candidate SNPs to be examined in a relevant cellular context and generated testable hypotheses into disease mechanisms.

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The incidence of acute pancreatitis (AP) has increased in the pediatric population over the past few decades and it stands to follow that the complications of severe AP, including symptomatic pancreatic fluid collections (PFCs) will increase as well. In adults, the therapeutic options for this situation have undergone a dramatic evolution from mainly surgical approaches to less invasive endoscopic approaches, mainly endoscopic ultrasound-guided transmural drainage (EUS-TD) followed be direct endoscopic necrosectomy if needed. This has proven safe and effective in adults; however, this approach has not been well studied or reported in pediatric populations.

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RNA has been classically known to play central roles in biology, including maintaining telomeres, protein synthesis, and in sex chromosome compensation. While thousands of long noncoding RNAs (lncRNAs) have been identified, attributing RNA-based roles to lncRNA loci requires assessing whether phenotype(s) could be due to DNA regulatory elements, transcription, or the lncRNA. Here, we use the conserved X chromosome lncRNA locus Firre, as a model to discriminate between DNA- and RNA-mediated effects in vivo.

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The majority of embryos created through in vitro fertilization (IVF) do not implant. It seems plausible that rates of implantation would improve if we had a better understanding of molecular factors affecting embryo competence. Currently, the process of selecting an embryo for uterine transfer uses an ad hoc combination of morphological criteria, the kinetics of development, and genetic testing for aneuploidy.

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Eluxadoline is a novel medication that was approved in the USA in 2015 for the treatment of diarrhoea-predominant irritable bowel syndrome. Due to its unique mechanism of action as both an opioid agonist and antagonist, it has been placed as a schedule IV controlled substance. Since its approval, there have been several cases of eluxadoline-induced pancreatitis reported in the literature.

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Denosumab is a fully human monoclonal antibody which is used to treat osteoporosis and has been shown to cause hypocalcemia in patients with underlying prostatic and bone malignancies, renal impairment, postmenopausal state, and/or vitamin D deficiency. We present a case of a male patient, with a past medical history negative for the aforementioned conditions, who presented with right shoulder pain and was found to be severely hypocalcemic secondary to denosumab.

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Multiple myeloma (MM) is a neoplastic disorder characterized by the monoclonal proliferation of plasma cells in the bone marrow. It is estimated to account for only 1% of neoplastic diseases, and there is still a great deal of uncertainty about its precise etiology. Common risk factors with a proven association with MM include ionizing radiation exposure, age greater than 65, male gender, and the presence of monoclonal gammopathy of unknown significance (MGUS).

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Appendicitis is the most common abdominal surgical emergency, and if left untreated, can lead to an abscess, peritonitis, or even death. The exact mechanism of appendicitis has yet to be elucidated, but the predominant theory is that different forms of luminal obstruction of the vermiform appendix lead to ischemia of the appendix wall and subsequent translocation of bacteria across the compromised mucosa, leading to transmural inflammation. The most common etiology is hyperplasia of lymphoid tissue in the mucosa, often secondary to infection and inflammation with gradual symptom onset.

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Renal cell carcinoma (RCC) represents 90% of all renal cancers. Patients may present with weight loss, hematuria, abdominal mass, abdominal pain, fever, and night sweats. The classic symptoms of flank pain, hematuria, and a palpable flank mass occur in less than 10% of patients and suggest advanced disease.

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Sweet syndrome, otherwise known as acute febrile neutrophilic dermatosis, is an uncommon disorder characterized by the abrupt onset of painful cutaneous lesions, often with fever and leukocytosis, in patients with underlying infection, malignancy, pregnancy, or drug exposure. We present a case of a young female with long-standing Sweet syndrome refractory to standard treatments and several immunomodulators whose symptoms were ultimately controlled with anakinra.

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Post-hospital residential brain injury rehabilitation outcomes research is a complicated undertaking because of the custom-tailoring of interventions needed to meet the complex and unique need of each individual. As such, there tends to be great variability across program settings, which generally limits large-scale intervention studies. Growing literature demonstrates that post-hospital residential programs are beneficial.

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We describe the case of an 82-year-old Caucasian woman who presented to our institution as a transfer from an outside hospital with nausea, vomiting and abdominal pain with CT imaging concerning for a duodenal mass or abscess in the juxtapapillary region of the second part of the duodenum. Upper endoscopy showed a non-bleeding duodenal diverticulum with purulent discharge consistent with diverticulitis. She underwent endoscopic disimpaction with irrigation and received a 14 day course of antibiotics, after which she presented for follow-up 1 month after discharge without complications.

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Sport participation is an important part of the development of children and adolescents. The objective of this study was to identify and quantify themes depicted in a select number of running-related films. Thirty-one running-related films were independently viewed and analyzed by 4 reviewers.

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The perception that children and adolescents have of injury and illness may be influenced by their depiction in sport-related films. The objective of this study was to determine the depiction of injury and illness in a select number of running-related films. A sample of 31 running-related films were analyzed, with a total of 77 injuries/illnesses depicted.

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