20 results match your criteria: "USD Sanford School of Medicine[Affiliation]"

Our previous work established a role for actin associated myosin motor proteins MYH9 and MYH10 in the trafficking of thick ascending limb (TAL) specific cargoes, uromodulin (UMOD) and Na + K + 2Cl- cotransporter (NKCC2). Here, we have generated a TAL-specific Myh9&10 conditional knockout (Myh9&10 TAL-cKO) mouse model to determine the cell autonomous roles for MYH9&10 proteins in TAL cargo transport and to understand the consequence of TAL dysfunction in the adult kidney. Myh9&10 TAL-cKO mice develop progressive kidney disease with pathological tubular injury confirmed by histological changes, tubular injury markers, upregulation of ER stress/unfolded protein response pathway, and higher blood urea nitrogen and serum creatinine.

View Article and Find Full Text PDF

Introduction: Long-term follow-up results of various trials comparing Zotarolimus eluting stents (ZES) with Everolimus eluting stents (EES) have been published recently. Additionally, over the last decade, there have been new trials comparing the ZES with various commercially available EES. We aim to conduct an updated meta-analysis in light of new evidence from randomized controlled trials (RCTs) to provide comprehensive evidence regarding the temporal trends in the clinical outcomes.

View Article and Find Full Text PDF
Article Synopsis
  • Clinical genome sequencing (cGS) shows promise in diagnosing rare genetic diseases, especially in underserved populations, with a study examining its effectiveness across high-income and low- and middle-income countries.
  • The iHope program assessed 1,004 individuals and found a 41.4% diagnostic yield, with those from low- and middle-income countries being 1.7 times more likely to receive positive results compared to high-income counterparts.
  • Over 76% of individuals experienced changes in diagnostic evaluation, and around 41% had changes in management strategies, indicating increased access to genomic testing may help reduce healthcare disparities globally.
View Article and Find Full Text PDF

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

Mol Genet Metab

March 2024

Hayward Genetics Center, Tulane School of Medicine, 1430 Tulane Ave, New Orleans, 70112, Louisiana, United States of America. Electronic address:

Background: Adults with PKU have difficulty maintaining plasma phenylalanine (Phe) in the range that is safe for neurologic function. Elevated plasma Phe is a risk factor for congenital anomalies and developmental delay in offspring resulting from pregnancies with poor Phe control in women with PKU. Enzyme supplementation with pegvaliase allows adults with PKU to eat an unrestricted diet and have plasma Phe levels in a safe range for pregnancy but pegvaliase has not been approved for use in pregnant females with PKU.

View Article and Find Full Text PDF

Copy number variants that duplicate distal upstream enhancer elements of the SOX9 gene cause 46,XX testicular differences of sex development (DSD) which is characterized by a 46,XX karyotype in an individual presenting with either ambiguous genitalia or genitalia with varying degrees of virilization, including those resembling typical male genitalia. Reported duplications in this region range in size from 24 to 780 kilobases (kb). Here we report a family with two affected individuals, the proband and his maternal uncle, harboring a 3.

View Article and Find Full Text PDF

We present a rare case of myopericarditis developing one day after the injection of the second dose of the MODERNA mRNA-1273 vaccine (Cambridge, MA, USA). The patient complained of typical positional chest pain with initial laboratory results significant for elevated troponin, erythrocyte sedimentation rate, and C-reactive protein. Autoimmune predisposition was suggested by elevated anti-nuclear antibodies and anti-Sjögren's-syndrome-related antigen A autoantibodies titers.

View Article and Find Full Text PDF

Background: Verification of appropriate placement of newly replaced gastrostomy tubes is essential prior to use to avoid potentially serious adverse events.

Problem: A lack of standardized guidance regarding effective and practical means to verify placement exists. Aspiration or drainage of gastric-like contents is one mean suggested to help determine placement, yet when returns are minimal, this becomes challenging.

View Article and Find Full Text PDF

Case report of transplant renal artery stenosis secondary to mechanical renal artery kinking: Balloon angioplasty as a supportive diagnostic tool?

Int J Surg Case Rep

June 2021

Avera Mckennan Hospital, University Health Center Department of Interventional, Radiology, 1325 S. Cliff Avenue, Sioux Falls, SD 57105, United States of America. Electronic address:

Introduction And Importance: Renal vascular complications are a significant cause of morbidity in living donor renal transplantation. Among renal vascular complications, transplant renal artery stenosis (TRAS) secondary to mechanical kinking is a rare but important cause of early graft dysfunction. Identifying this phenomenon and correcting the underlying cause is critical to graft viability in the post-operative period.

View Article and Find Full Text PDF

Background: The procedures that rural general surgeons perform may be changing. It is important to recognize the trends and practices of the current rural general surgeon in efforts to better prepare general surgeons who desire to enter a practice in a rural environment. The aim of this review is to detail the recent operative case volumes of 6 rural locations in the upper Midwest where general surgery is practiced.

View Article and Find Full Text PDF

A 4-year-old female child developed cutaneous Langerhans cell histiocytosis 6 months following a diagnosis of T-cell acute lymphoblastic leukemia. Imaging revealed no evidence of systemic disease. Seven months later, the first systemic lesion was discovered on laryngoscopy.

View Article and Find Full Text PDF

Over the last 2 decades, rural locations have realized a steady decrease in surgical access and direct care. Owing to societal expectations for equal general and subspecialty surgical care in urban or rural areas, the ability to attract, train, and hold onto the rural surgeon has come into question. Our current general surgery training curriculum has been reevaluated as to its relevance for rural surgery and several alternatives to the traditional surgical training model have been proposed.

View Article and Find Full Text PDF

Diagnosis, Treatment, and Prevention of Urinary Tract Infections in Post-Acute and Long-Term Care Settings: A Consensus Statement From AMDA's Infection Advisory Subcommittee.

J Am Med Dir Assoc

January 2020

Geriatric Research Education and Clinical Center (GRECC), and the Specialty Care Center of Innovation, at the VA Northeast Ohio Healthcare System, Cleveland, OH; Division of Infectious Diseases and HIV Medicine, Department of Medicine, Case Western Reserve University School of Medicine, Cleveland, OH; Department of Population and Quantitative Health Sciences, Case Western Reserve University School of Medicine, Cleveland, OH.

The diagnosis and management of urinary tract infections (UTIs) among residents of post-acute and long-term care (PALTC) settings remains challenging. Nonspecific symptoms, complex medical conditions, insufficient awareness of diagnostic criteria, and unnecessary urine studies all contribute to the inappropriate diagnosis and treatment of UTIs in PALTC residents. In 2017, the Infection Advisory Subcommittee at AMDA-The Society for Post-Acute and Long-Term Care Medicine convened a workgroup comprised of experts in geriatrics and infectious diseases to review recent literature regarding UTIs in the PALTC population.

View Article and Find Full Text PDF

The article ''Immunogenic Yeast-Based Fermentation Product Reduces Allergic Rhinitis-Induced Nasal Congestion: A Randomized, Double-Blind, Placebo-Controlled Trial'', written by Mark A. Moyad, Larry E. Robinson, Julie M.

View Article and Find Full Text PDF

End stage renal disease (ESRD) population account for 1.9 per patient year of hospital admissions annually. ESRD population are at increased risk of bleeding secondary to use of anticoagulation during hemodialysis and uremia induced platelet dysfunction.

View Article and Find Full Text PDF

Background: Colloid cysts are rare benign lesions with potentially devastating results. Complications intra and posttreatment can result in high rates of recurrence. Stereotactic radiosurgery may present an attractive option for decreasing the rate of recurrence in conjunction with stereotactic aspiration.

View Article and Find Full Text PDF

Necrotizing soft tissue infections are characterized clinically by fulminant tissue destruction, systemic signs of toxicity, and high mortality. Accurate diagnosis and appropriate treatment must include early surgical intervention and antibiotic therapy. Mortality rate is very high and could be even higher in an immunocompromised host.

View Article and Find Full Text PDF

The diverse epithelial cell types of the kidneys are segregated into nephron segments and the collecting ducts in order to endow each tubular segment with unique functions. The rich diversity of the epithelial cell types is highlighted by the unique membrane channels and receptors expressed within each nephron segment. Our previous work identified a critical role for Myh9 and Myh10 in mammalian endocytosis.

View Article and Find Full Text PDF

In 2012, South Dakota experienced a 2.1 percent increase in births over the previous year. Despite an overall decrease in low birth weight, in 2012, the South Dakota infant mortality rate (8.

View Article and Find Full Text PDF

Intensive blood pressure control in diabetes.

S D Med

December 2011

Sioux Falls Family Medicine Residency Program, Department of Family Medicine, USD Sanford School of Medicine, USA.

Contemporary standards of care, including many "quality improvement" and "pay-for-performance" measures, indicate that aggressive blood pressure control should be instituted in patients with type 2 diabetes. Is this consistent with the evidence? This was recently the topic of a Sioux Falls Family Residency Program Journal Club presentation, in which we found the answer is a resounding "No".

View Article and Find Full Text PDF