15 results match your criteria: "University of Pittsburgh Medical Center and School of Medicine[Affiliation]"

Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.

NPJ Genom Med

November 2024

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA.

Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. In this retrospective study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in CFAP410, a ciliary gene previously associated with recessive Jeune syndrome. We detected twelve variants, eight of which were novel, including c.

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Unhealthy visceral fat is associated with improved efficacy of immunotherapy in endometrial cancer.

J Clin Invest

September 2024

Center for Human Integrative Physiology, Aging Institute, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA.

Obesity is a known driver of endometrial cancer. In this issue of the JCI, Gómez-Banoy and colleagues investigated a cohort of patients with advanced endometrial cancer treated with immune checkpoint inhibitors targeting the interaction between programmed cell death receptor-1 (PD-1) and its ligand (PD-L1). Notably, a BMI in the overweight or obese range was paradoxically associated with improved progression-free and overall survival.

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Coding and non-coding variants in the ciliopathy gene cause early-onset non-syndromic retinal degeneration.

Res Sq

February 2024

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

Inherited retinal degenerations are blinding genetic disorders characterized by high genetic and phenotypic heterogeneity. The implementation of next-generation sequencing in routine diagnostics, together with advanced clinical phenotyping including multimodal retinal imaging, have contributed to the increase of reports describing novel genotype-phenotype associations and phenotypic expansions. In this study, we describe sixteen families with early-onset non-syndromic retinal degenerations in which affected probands carried rare bi-allelic variants in , a ciliary gene previously associated with syndromic recessive Jeune syndrome.

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Purpose: To report the clinical utility of optical coherence tomography angiography (OCTA) for demonstrating choroidal neovascularization (CNV) associated with Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) retinopathy.

Methods: Thirty-three participants with LCHADD (age 7-36 years; median 17) were imaged with OCTA and the Center for Ophthalmic Optics & Lasers Angiography Reading Toolkit (COOL-ART) software was implemented to process OCTA scans.

Results: Seven participants (21 %; age 17-36 years; median 25) with LCHADD retinopathy demonstrated evidence of CNV by retinal examination or presence of CNV within outer retinal tissue on OCTA scans covering 3 × 3 and/or 6 × 6-mm.

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Article Synopsis
  • The study focuses on the use of Left Ventricular Assist Devices (LVAD) in advanced heart failure patients, particularly those with a history of ventricular tachyarrhythmia (VTA), and aims to improve outcomes through a new intra-operative ablation protocol.
  • Researchers designed a randomized clinical trial involving 100 LVAD candidates, comparing those receiving intra-operative VTA ablation against those receiving standard medical management.
  • The trial will track various outcomes for an average of 18 months post-surgery, assessing VTA recurrence, adverse events, right heart function, healthcare utilization, and quality of life.
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The aim of this study was to assess changes in acquisition time, image quality and evaluation of pancreatic cysts when applying CS to a 3D MRCP sequence. Thirty subjects (17F; 13M) undergoing MRCP for evaluation of pancreatic cyst(s) were prospectively recruited and underwent 3D MRCP and CS 3D MRCP (CS factor = 2) on a 3T scanner. The acquisition time was recorded.

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Background: Delayed splenic vascular injury (DSVI) is traditionally considered a rare, often clinically occult, harbinger of splenic rupture in patients with splenic trauma that are managed conservatively. The purpose of our study was to assess the incidence of DSVI and associated features in patients admitted with blunt splenic trauma and managed nonoperatively.

Materials And Methods: A retrospective analysis was conducted over a 4-y time.

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Introduction: Endoscopic endonasal skull base surgery for vascular lesions is a controversial topic in neurosurgical practice. Concerns regarding the ability to effectively work through the relatively narrow and deep endonasal corridor and manage serious hemorrhagic complications such as inadvertent internal carotid artery (ICA) injury during endoscopic surgery (EES) are relevant sources of disagreement between neurosurgeons. Nevertheless, following careful preoperative evaluation, EES may be indicated for rare, well-selected cases, including medially-projecting paraclinoid aneurysms and cavernous malformations (CMs) located next to the ventral surface of the brainstem.

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Background: Patient safety has been gained much more attention in recent years. The authors reviewed patients who had cardiac arrest in the operating rooms undergoing noncardiac surgery between January 1989 and December 2001 at the University of Pittsburgh Medical Center, USA. The main objectives of the study were to determine the incidence of intraoperative cardiac arrest, to identify possible causes of cardiac arrest and to explore amenable modifications.

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Clostridium difficile infections in outpatient dialysis cohort.

Infect Control Hosp Epidemiol

January 2010

Department of Medicine, University of Pittsburgh Medical Center and School of Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.

We examined the Clostridium difficile infection rate and risk factors in an outpatient dialysis cohort. The Cox proportional hazard for developing C. difficile infection was significantly higher with high comorbidity index and low serum albumin level.

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Laparoscopic Nissen fundoplication.

Minerva Chir

April 2009

Department of Pediatric General and Thoracic Surgery, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center and School of Medicine, Pittsburgh, PA, USA.

Unlabelled: This article will focus on a review of the history and current status of laparoscopic Nissen fundoplication for gastroesophageal reflux disease in infants and children.

Methods: Review of the available current literature concerning laparoscopic Nissen fundoplication in infants and children. Information regarding the current approach for gastroesophageal reflux disease (GERD) in children will be reviewed in addition to the indications for surgical antireflux operation; application and safety of laparoscopy; and the outcomes of laparoscopic Nissen fundoplication in both normal and neurologically impaired children.

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Objective: This article discusses the commonly used techniques for imaging the parathyroid glands and their role in the preoperative evaluation of patients with primary hyperparathyroidism.

Conclusion: The importance of sonography and sestamibi scintigraphy in the preoperative evaluation of patients with primary hyperthyroidism has increased with the adoption of minimally invasive parathyroidectomy techniques at most medical centers. When the results of these studies are concordant, the cure rates of minimally invasive surgery equal those of traditional bilateral neck exploration.

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Study Objective: To determine how the volume and severity of emphysema measured by CT morphometry (CTM) before and after lung volume reduction surgery (LVRS) relates to the functional status of patients after LVRS.

Design: A histologically validated CT algorithm was used to quantify the volume and severity of emphysema in 35 patients before and after LVRS: total lung volume (TLV), normal lung volume (< 6.0 mL gas per gram of tissue), volume of mild/moderate emphysema (ME; 6.

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Background: Pulmonary function may improve after surgical resection of the most severely affected lung tissue (lung-reduction surgery) in patients with diffuse emphysema. The basic mechanisms responsible for the improvement, however, are not known.

Methods: We studied 20 patients with diffuse emphysema before and at least three months after either a unilateral or a bilateral lung-reduction procedure.

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