Publications by authors named "John Graham"

Article Synopsis
  • Drug-coated balloon (DCB) catheters are a new option for treating coronary issues, delivering drugs directly to blood vessel walls without the need for permanent stents.
  • Recent evidence supports their use not only in recurrent restenosis but also in treating new coronary diseases and chronic total occlusions (CTO).
  • A case study showed successful use of a DCB-only strategy in a 49-year-old male with multivessel occlusions, highlighting the need for more research on the long-term effectiveness of DCBs in these scenarios.
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Subclavian artery pseudoaneurysms are rare and associated with high morbidity and mortality. Alternative approaches to open surgical repair can include endovascular repair or ultrasound-guided thrombin injection. Here, we describe a safe and novel technique of closure of a subclavian artery pseudoaneurysm with Angio-Seal that was unresponsive to thrombin injection and in a difficult location for open repair.

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Identifying host genetic factors modulating immune checkpoint inhibitor (ICI) efficacy has been experimentally challenging because of variations in both host and tumor genomes, differences in the microbiome, and patient life exposures. Utilizing the Collaborative Cross (CC) multi-parent mouse genetic resource population, we developed an approach that fixes the tumor genomic configuration while varying host genetics. With this approach, we discovered that response to anti-PD-1 (aPD1) immunotherapy was significantly heritable in four distinct murine tumor models ( between 0.

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Article Synopsis
  • - Over the past 50-60 years, genetics and dysmorphology have become essential in medicine, helping diagnose rare diseases and informing various medical specialties.
  • - Both fields heavily depend on molecular geneticists for identifying genes linked to disorders, showcasing their interconnectedness in patient care.
  • - The memoirs collected highlight the personal journeys of professionals in these specialties, emphasizing their adaptability and the chance experiences that led them to enjoy a career in genetics and dysmorphology.
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Background And Objective: The transrectal biopsy approach is traditionally used to detect prostate cancer. An alternative transperineal approach is historically performed under general anesthesia, but recent advances enable transperineal biopsy to be performed under local anesthesia. We sought to compare infectious complications of transperineal biopsy without antibiotic prophylaxis versus transrectal biopsy with targeted prophylaxis.

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Background And Objectives: Heterozygous variants in RAR-related orphan receptor B () have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in patients with epilepsy and intellectual disability (ID). In this study, we aimed to delineate the epilepsy phenotype associated with pathogenic variants and to provide arguments in favor of the pathogenicity of variants.

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This article analyzes peer-reviewed English-language social work scholarship on Islam and Muslims published between 2011 and 2021. Of these 127 articles, 70 journal venues are represented, and first authors are primarily American (44 percent), followed by British (15 percent) and Canadian (11 percent). A total of 70 journals published studies analyzing data related to Muslims/Islam and social work, with 46 consisting of only one publication between 2011 and 2021.

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Article Synopsis
  • Recurrent 17q12 deletions are linked to various clinical issues, primarily affecting kidney and urinary tract development, diabetes, and neurodevelopmental disorders, with structural renal disease noted as the most common feature.
  • A study of 26 cases with identified 17q12 microdeletions, particularly in 17 cases with prenatal ultrasound findings, revealed diverse kidney issues such as renal cysts and echogenic kidneys.
  • The research suggests using genetic testing for 17q12 microdeletions in cases of renal anomalies detected before birth, as this information can significantly impact management during pregnancy and after birth due to differing prognoses.
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Background: Existing literature suggests that for some pediatric conditions, blood cultures may be of low value in specific clinical circumstances. The goals of our study were to: 1) identify common pediatric illnesses and define criteria for low-value blood cultures in children aged from 91 days to 19 years, 2) apply these criteria retrospectively to identify the patients in our emergency department (ED) who had low-value blood cultures obtained, and 3) describe this cohort and assess the proportion of true bacteremia in low-value blood cultures.

Method: The study team reviewed the literature and developed consensus criteria to identify conditions in which blood cultures were of low value for our study population.

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Purpose Of Review: In-stent restenosis (ISR) is the most common cause of stent failure. Although the rate of ISR is significantly lower with contemporary drug-eluting stents (DES), it remains a challenging clinical entity to treat.

Recent Findings: In this review, we focus on a practical approach to management of DES ISR with intravascular imaging at its core, as supported by several recently published articles.

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Article Synopsis
  • Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder marked by a variety of symptoms including growth delays, upper limb issues, and other systemic problems, primarily caused by mutations in specific genes associated with the cohesin complex.
  • The majority of CdLS cases (over 60%) are linked to mutations in the NIPBL gene, which leads to the most severe form of the syndrome; other cohesin gene mutations typically result in milder symptoms.
  • The study analyzed the genetic factors in 716 individuals with CdLS to better understand the contributions of cohesin complex genes and identify potential new candidate genes, improving knowledge of genetic variations and their effects on CdLS manifestations.
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The gut microbiome is increasingly recognized to alter cancer risk, progression and response to treatments such as immunotherapy, especially in cutaneous melanoma. However, whether the microbiome influences immune checkpoint inhibitor (ICI) immunotherapy response to non-melanoma skin cancer has not yet been defined. As squamous cell carcinomas (SCC) are in closest proximity to the skin microbiome, we hypothesized that the skin microbiome, which regulates cutaneous immunity, might affect SCC-associated anti-PD1 immunotherapy treatment response.

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Introduction: Approximately one million prostate biopsies are performed annually in the USA, and most are performed using a transrectal approach under local anaesthesia. The risk of postbiopsy infection is increasing due to increasing antibiotic resistance of rectal flora. Single-centre studies suggest that a clean, percutaneous transperineal approach to prostate biopsy may have a lower risk of infection.

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  • Pathogenic variants in KMT5B, a lysine methyltransferase, are linked to global developmental issues, macrocephaly, autism, and other congenital anomalies, but the disorder is still not fully understood.
  • A study examining 43 patients revealed new significant features like hypotonia and congenital heart defects not previously associated with this condition.
  • Research using patient cell lines and KMT5B knockout mice showed that these variants lead to slow growth and highlighted alterations in pathways related to nervous system development, enhancing our understanding of the disorder's molecular mechanisms.
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The gut microbiome is increasingly recognized to alter cancer risk, progression, and response to treatments such as immunotherapy, especially in cutaneous melanoma. However, whether the microbiome influences immune checkpoint inhibitor (ICI) immunotherapy response to non-melanoma skin cancer has not yet been defined. As squamous cell carcinomas (SCC) are in closest proximity to the skin microbiome, we hypothesized that the skin microbiome, which regulates cutaneous immunity, might affect SCC-associated anti-PD1 immunotherapy treatment response.

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Numerous pathogenic variants in , which encodes the voltage-gated potassium channel, K2.1, are linked to developmental and epileptic encephalopathies and associated with loss-of-function, -regulation, and -expression of the channel. Here we describe a novel variant (P17T) occurring in the K2.

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Article Synopsis
  • Chronic kidney disease (CKD) increases the risk of complications after percutaneous coronary intervention (PCI), and it's unclear how genetic factors like CYP2C19 loss of function (LOF) alleles affect this risk or the safety of genotype-guided therapy.
  • A study with 5,815 patients analyzed outcomes based on CKD status and found no significant interaction between treatment strategy and CKD for major cardiovascular events or bleeding risks after 12 months.
  • The findings suggest that while escalating P2Y inhibitor therapy via a genotype-guided approach doesn't reduce complications in CKD patients, it also doesn't increase bleeding risks, indicating the need for larger studies to confirm these results.
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Background: Spontaneous coronary artery dissection (SCAD) is an important cause of myocardial infarction (MI) in young to middle-aged women.

Objectives: We aim to define the long-term natural history of SCAD.

Methods: We performed a multicenter, prospective, observational study of patients with nonatherosclerotic SCAD presenting acutely from 22 North American centers.

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Article Synopsis
  • De novo truncating and splicing pathogenic variants in the ASXL3 gene lead to various developmental and intellectual challenges, including delays and behavioral issues.
  • The study documents three families with inherited ASXL3-related disorders, detailing specific pathogenic variants affecting the father-son duo, mother-child trio, and a mother-daughter pair.
  • Findings highlight the variability of symptoms within affected families and confirm that ASXL3-related disorders can be inherited.
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Au-Kline syndrome (AKS) is a neurodevelopmental disorder associated with multiple malformations and a characteristic facial gestalt. The first individuals ascertained carried de novo loss-of-function (LoF) variants in HNRNPK. Here, we report 32 individuals with AKS (26 previously unpublished), including 13 with de novo missense variants.

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