1,425 results match your criteria: "University of South Dakota-Sanford School of Medicine[Affiliation]"

The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

Am J Hum Genet

June 2023

Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands; Center for Neuropsychiatry, Vincent van Gogh, Venray, the Netherlands; Department of Clinical Genetics, ErasmusMC, Rotterdam, the Netherlands. Electronic address:

Article Synopsis
  • De novo variants contribute significantly to neurodevelopmental disorders (NDDs), but due to their rarity, understanding the full range of symptoms and genetic variations linked to specific genes like KDM6B poses a challenge.
  • The study of 85 individuals with KDM6B variants reveals that cognitive deficits are common, while features like coarse facies and skeletal issues are rare, indicating that existing descriptions may be misleading.
  • Through innovative testing methods and studies on Drosophila, the researchers highlight the critical role of KDM6B in cognitive function and the importance of international collaboration for accurate diagnosis of rare disorders.
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Article Synopsis
  • The study aims to describe the phenotypic and genotypic spectrum of a neurodevelopmental disorder linked to a specific gene implicated in periventricular nodular heterotopia (PVNH).
  • Researchers examined 17 individuals with variants, identifying several types of genetic mutations and their effects on brain structure and function.
  • Findings highlighted a range of symptoms, including intellectual disability, seizures, microcephaly, and various neurological and sensory defects, confirming the gene's role in this autosomal dominant syndrome characterized by abnormal neuronal migration.
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Functional neuronal circuits promote disease progression in cancer.

Sci Adv

May 2023

Cancer Biology and Immunotherapies Group, Sanford Research, Sioux Falls, SD, USA.

The molecular and functional contributions of intratumoral nerves to disease remain largely unknown. We localized synaptic markers within tumors suggesting that these nerves form functional connections. Consistent with this, electrophysiological analysis shows that malignancies harbor significantly higher electrical activity than benign disease or normal tissues.

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Crowned dens syndrome (CDS) is a rare syndrome of calcium pyrophosphate dihydrate (CPPD) deposition on the odontoid process of the second cervical vertebra leading to unique clinical presentation and radiographical findings. Symptoms usually overlap with more common etiologies, including meningitis, stroke, and giant cell arteritis. Thus, patients struggle with extensive evaluation before diagnosing this uncommon condition.

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Acute coronary syndrome (ACS) can manifest as ST-elevation myocardial infarction (STEMI), non-ST-elevation myocardial infarction (NSTEMI), and unstable angina (UA). Common etiologies for STEMI include atherosclerotic plaque disruption or erosion manifesting as type 1 myocardial ischemia (MI). Causes of type 2 MI presenting as STEMI may include spontaneous coronary artery dissection, coronary artery spasm, and coronary embolism.

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Youth with emotional dysregulation (ED) and irritability/aggression, common in disruptive disorders (frequently comorbid with attention-deficit/hyperactivity disorder), are underserved by conventional treatments. Anger dysregulation is usually the core feature of ED. Complementary and integrative Medicine (CIM) treatments for youth with disruptive disorders and ED are reviewed.

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Complementary/Integrative Medicine Treatment and Prevention of Youth Psychosis.

Child Adolesc Psychiatr Clin N Am

April 2023

Department of Psychiatry, Emory University School of Medicine, 8955 Highway 98 West, Suite 204, Miramar Beach, FL 32550, USA.

The rationale for CIM treatments in youth psychoses is to optimize treatment by targeting symptoms not resolved by antipsychotics, such as negative symptoms (major drivers of disability). Adjunctive omega-3 fatty acids (ω-3 FA) or N-acetyl cystine (NAC usage for > 24-week) can potentially reduce negative symptoms and improve function. ω-3 FA or exercise may prevent progression to psychosis in youth (in prodromal stage).

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Calcified chondroid mesenchymal neoplasm is a term proposed for tumors with a spectrum of morphologic features, including cartilage/chondroid matrix formation, that frequently harbor FN1 gene fusions. We report a series of 33 cases of putative calcified chondroid mesenchymal neoplasms, mostly referred for expert consultation out of concern for malignancy. Patients included 17 males and 16 females, with a mean age of 51.

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Variants in the RNA binding protein (RBP) U2AF2 are hypothesized to cause a novel neurodevelopmental disorder. Here, we report a patient with a de novo missense variant in U2AF2, the second case report of the same variant, and third case report overall. The patient in this report has a history of global developmental delay, dysmorphic features, and epilepsy.

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Cardiac tumors are uncommon. Sometimes it is challenging to differentiate non-invasively between different kinds of cardiac tumors and thrombi, which is critical to dictate the subsequent treatment. In addition, not all high-risk cardiac tumors are amenable to surgical resection posing a therapeutic challenge.

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Drug-induced liver injury (DILI) is a common entity. Ceftriaxone is a well-tolerated parenteral antibiotic widely used for various bacterial infections. We report a patient who developed severe acute hepatitis following a single dose of 2 g ceftriaxone within one day.

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Thrombotic thrombocytopenic purpura (TTP) is a life-threatening clinical syndrome characterized by microangiopathy and a variable degree of end-organ ischemic damage. Cardiac involvement has been recognized as a major cause of mortality in these patients. In this study, we queried the National Inpatient Sample (NIS) for all patients hospitalized with thrombotic microangiopathy from 2002 to 2017, who also received plasma exchange (PLEX) during the same admission.

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Abnormal enlargement of the thyroid gland is called goiter. Structurally, it can be nodular or diffuse. Usually, it presents as an anterior cervical mass; however, less commonly, it presents as a retrosternal mass causing symptoms of compression on the surrounding structures.

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The Role Bariatric Surgery and Endobariatric Therapies in Nonalcoholic Steatohepatitis.

Clin Liver Dis

May 2023

University of South Dakota Sanford School of Medicine; Avera Medical Group Liver Disease and Transplant Institute, Avera McKennan University Hospital, Clinical Research Affairs Avera Transplant Institute, 1315 South Cliff Avenue, Sioux Falls, SD 57105, USA; VA Medical Center, Sioux Falls, SD, USA. Electronic address:

Nonalcoholic fatty liver disease (NAFLD) is the most common cause of chronic liver disease worldwide. Disease spectrum varies from steatosis, steatohepatitis, fibrosis, cirrhosis, and hepatocellular carcinoma. Currently, there are no approved medical therapies, and weight loss through lifestyle modifications remains a mainstay of therapy.

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Background: Our objective was to examine heterogeneity in the effect of therapeutic hypothermia by sex in infants with moderate or severe neonatal encephalopathy.

Methods: We conducted a post hoc analysis of the Induced Hypothermia trial, which included infants born at gestational ages ≥36 weeks, admitted at ≤6 postnatal hours with evidence of severe acidosis or perinatal complications and moderate or severe neonatal encephalopathy. Multivariate modified Poisson regression models were used to compare the treatment effect of whole-body hypothermia versus control, with an evaluation of interaction by sex, on the primary outcome of death or moderate or severe disability at 18-22 months of corrected age.

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Alcoholic Hepatitis: The Rising Epidemic.

Med Clin North Am

May 2023

University of South Dakota Sanford School of Medicine, Sioux Falls, SD, USA; Avera Transplant Institute and University Hospital, Avera McKennan University Hospital; VA Medical Center, Sioux Falls, SD 57105, USA. Electronic address:

Alcoholic hepatitis (AH) is a unique clinical syndrome on the spectrum of alcohol-associated liver disease (ALD). It constitutes a rising epidemic with increasing incidence and major public health implications. In severe AH, 30-day mortality approaches 30%, yet therapeutic options remain limited.

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Purpose: To evaluate the clinical outcomes of a non-diffractive, wavefront-shaping extended depth-of-focus (EDOF) intraocular lens (IOL) in eyes with mild open-angle glaucoma (OAG).

Setting: Private practice; Sioux Falls, South Dakota.

Design: Prospective, open-label, interventional study.

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Cardiac masses are not common but remain important in cardiology practice as they can cause havoc to a patient's life through obstructive and arrhythmogenic symptoms. These lesions mostly include vegetation, thrombi, and tumors. Myxomas are the most common primary cardiac tumor, primarily arising from the left heart chambers.

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Special Olympics promotes the health of their athletes year-round and offers their athletes options to obtain free health screenings. Following screening events, athletes often have difficulties finding needed referral care. Obstacles to finding a healthcare provider (HCP) for a referral is what necessitates the need for a state-wide HCP referral list in South Dakota.

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Background: A mental health crisis can create challenges for individuals, families, and communities. This multifaceted issue often involves different professionals from law enforcement and health care systems, which may lead to siloed and suboptimal care. The virtual crisis care (VCC) program was developed to provide rural law enforcement with access to behavioral health professionals and facilitated collaborative care via telehealth technology.

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Emerging targets for therapy in ALD: Lessons from NASH.

Hepatology

July 2024

Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, Minnesota, USA.

Alcohol-associated liver disease due to harmful alcohol use and NAFLD associated with metabolic syndrome are the 2 most common liver diseases worldwide. Control of respective risk factors is the cornerstone in the long-term management of these diseases. Furthermore, there are no effective therapies.

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Physician Well-Being and the Promise of Positive Psychology.

Ochsner J

January 2023

Director of Program Diversity and Early Career Development for Women in Internal Medicine, University of South Dakota Sanford School of Medicine, Sioux Falls, SD.

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Background: Repeat imaging for trauma patients is common in rural health care systems after transfer to a tertiary trauma center which subjects patients to increased radiation, excess costs, and delays to definitive care. A previous retrospective review at our regional trauma center found that pre-transfer CT scans were frequently performed with little change in management. To improve this rate, additional emphasis was placed on (1) best imaging practices during Rural Trauma Team Development Courses (RTTDC), (2) management feedback during regional trauma case reviews, and (3) implementation of practice management guidelines for an inter-provider telehealth system.

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