Publications by authors named "Stephen J O'Brien"

Biceps-labrum complex (BLC) disease is a well-established pain generator in the shoulder. Despite its ubiquity, BLC disease continues to pose a diagnostic challenge for orthopaedic surgeons. The use of magnetic resonance imaging and glenohumeral arthroscopy in the diagnosis of BLC disease has proven to be inadequate when performed independently.

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  • * The described technique of arthroscopic subdeltoid transfer shows strong clinical outcomes and provides benefits like soft tissue healing and better biomechanical support.
  • * A drawback of this procedure is the steep learning curve for safely navigating the subdeltoid area during surgery.
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HIV infection continues to be a major global public health issue. The population heterogeneity in susceptibility or resistance to HIV-1 and progression upon infection is attributable to, among other factors, host genetic variation. Therefore, identifying population-specific variation and genetic modifiers of HIV infectivity can catapult the invention of effective strategies against HIV-1 in African populations.

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The role of structurally dynamic genomic regions in speciation is poorly understood due to challenges inherent in diploid genome assembly. Here we reconstructed the evolutionary dynamics of structural variation in five cat species by phasing the genomes of three interspecies F1 hybrids to generate near-gapless single-haplotype assemblies. We discerned that cat genomes have a paucity of segmental duplications relative to great apes, explaining their remarkable karyotypic stability.

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The tiger (Panthera tigris) is a charismatic megafauna species that originated and diversified in Asia and probably experienced population contraction and expansion during the Pleistocene, resulting in low genetic diversity of modern tigers. However, little is known about patterns of genomic diversity in ancient populations. Here we generated whole-genome sequences from ancient or historical (100-10,000 yr old) specimens collected across mainland Asia, including a 10,600-yr-old Russian Far East specimen (RUSA21, 8× coverage) plus six ancient mitogenomes, 14 South China tigers (0.

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Objective: To develop a novel video compendium of real surgical patient interactions as a tool for medical student education and to evaluate our institutional experience of its usefulness.

Design: compendium of real surgical patient interactions.

Setting: Single university affiliated hospital in Cork, Ireland.

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We report the first chromosome-length genome assemblies for three species in the mammalian order Pholidota: the white-bellied, Chinese, and Sunda pangolins. Surprisingly, we observe extraordinary karyotypic plasticity within this order and, in female white-bellied pangolins, the largest number of chromosomes reported in a Laurasiatherian mammal: 2n = 114. We perform the first karyotype analysis of an African pangolin and report a Y-autosome fusion in white-bellied pangolins, resulting in 2n = 113 for males.

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Background: Anal squamous cell cancer (ASCC) incidence in Kentucky is increasing at an alarming rate. In 2009, the incidence surpassed the US national average (2.66 vs.

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Documenting genome diversity is important for the local biomedical communities and instrumental in developing precision and personalized medicine. Currently, tens of thousands of whole-genome sequences from Europe are publicly available, but most of these represent populations of developed countries of Europe. The uneven distribution of the available data is further impaired by the lack of data sharing.

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Wide interest in species conservation is young. To many it began early in 1903 when Teddy Roosevelt and John Muir set up a camp under the Grizzly Giant in the Mariposa Grove of California's Yosemite Valley. Over three days they decided to broaden the US National Park footprint across the USA.

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Background: Surgery for chronic pancreatitis is associated with major morbidity and mortality. The aim of this study is to examine the role of preoperative muscle volume and quality on postoperative outcomes in patients with chronic pancreatitis.

Methods: All patients who underwent abdominal surgery for chronic pancreatitis between 2011 and 2018 were identified from an institutional surgical database.

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  • Research on gene variants related to HIV/AIDS mostly focuses on U.S. and European populations, with limited studies on sub-Saharan African populations, where HIV infections are most prevalent.
  • A genome-wide association study involving 766 participants in Botswana identified three significant gene associations with HIV-1 subtype C (HIV-1C) acquisition, which were also supported by findings in other cohorts.
  • The study not only replicated thirteen previously identified AIDS restriction genes but also contributes to understanding the genetic factors influencing HIV acquisition and progression in the HIV-1C affected population of Botswana.
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Background: Colon cancer is a leading cause of cancer-related death. Long non-coding (Lnc) RNAs are critical mediators of tumor biology. H19 is a well-characterized lncRNA involved in p53 regulation and cancer progression.

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The Qinghai-Tibet Plateau endemic Chinese mountain cat has a controversial taxonomic status, whether it is a true species or a wildcat () subspecies and whether it has contributed to cat () domestication in East Asia. Here, we sampled lineages across China and sequenced 51 nuclear genomes, 55 mitogenomes, and multilocus regions from 270 modern or museum specimens. Genome-wide analyses classified the Chinese mountain cat as a wildcat conspecific , which was not involved in cat domestication of China, thus supporting a single domestication origin arising from the African wildcat ().

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The Puma lineage within the family Felidae consists of 3 species that last shared a common ancestor around 4.9 million years ago. Whole-genome sequences of 2 species from the lineage were previously reported: the cheetah (Acinonyx jubatus) and the mountain lion (Puma concolor).

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Background: Colon cancer survival is dependent on metastatic potential and treatment. Large RNA-sequencing data sets may assist in identifying colon cancer-specific biomarkers to improve patient outcomes.

Objective: This study aimed to identify a highly specific biomarker for overall survival in colon adenocarcinoma by using an RNA-sequencing data set.

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  • Scientists need good reference genomes to study biology, diseases, and protect wildlife, but there are only a few for non-microbial species.
  • The Genome 10K (G10K) group worked for five years to improve the way they create these high-quality genomes and gathered information from 16 different animal species.
  • Their work showed that special long-read technology improves genome quality, fixed errors in old genome sequences, and discovered new things about genes and chromosomes, leading to a new project to create complete genomes for about 70,000 vertebrate species.
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  • Colon adenocarcinoma is a leading cause of cancer deaths globally, with the epithelial-mesenchymal transition process playing a key role in cancer metastasis.
  • An analysis identified the long non-coding RNA ZFAS1 as significantly elevated in colon cancer compared to normal tissue, and this was validated through further testing.
  • ZFAS1 knockdown reduced cell proliferation, migration, and invasion in colon cancer cell lines, revealing its critical role in regulating the miR-200/ZEB1/E-cadherin and vimentin signaling pathway, with implications for tumor growth in vivo.
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Background: Recent studies have identified susceptibility genes of HBV clearance, chronic hepatitis B, liver cirrhosis, hepatocellular carcinoma, and showed the host genetic factors play an important role in these HBV-related outcomes.

Methods: Collected samples from different outcomes of HBV infection and performed genotyping by Affymetrix 500 k SNP Array. GCTA tool, PLINK, and Bonferroni method were applied for analysis of genotyping and disease progression.

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Background: The incidence of colorectal cancer (CRC) among patients <50 years of age has increased dramatically over the last decades. At the same time, the growing proportion of obese children and adolescents and the increasing proportion of young and obese patients with CRC suggests an association between metabolic dysfunction and carcinogenesis. Tumor-associated macrophages (TAMs) are able to orchestrate tumor promoting and suppressing mechanisms in CRC.

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Background: Ileal pouch-anal anastomosis (IPAA) is a common surgical treatment for ulcerative colitis. Afferent limb stenosis is an infrequent complication following IPAA, suggesting underlying Crohn's disease (CD). We hypothesized that CD-related single nucleotide polymorphisms (SNPs) are associated with afferent limb stenosis.

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  • The study focuses on a pathogen, particularly tuberculosis (TB), which poses significant public health challenges due to issues like drug resistance and difficulties with diagnostics and treatment predictions.
  • Researchers analyzed 145 clinical strains (72 pulmonary TB and 73 extra-pulmonary TB) from Russia between 2007 and 2014 using whole-genome sequencing to identify mutations linked to drug resistance.
  • The findings reveal distinct genetic substrains related to the different TB localizations, with extra-pulmonary TB strains showing higher drug resistance, particularly associated with Beijing lineage while HIV was linked to increased occurrences of extra-pulmonary TB.
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Pinnipedia karyotype evolution was studied here using human, domestic dog, and stone marten whole-chromosome painting probes to obtain comparative chromosome maps among species of Odobenidae (), Phocidae (, , , , ), and Otariidae (, , , and ). Structural and functional chromosomal features were assessed with telomere repeat and ribosomal-DNA probes and by CBG (C-bands revealed by barium hydroxide treatment followed by Giemsa staining) and CDAG (Chromomycin A3-DAPI after G-banding) methods. We demonstrated diversity of heterochromatin among pinniped karyotypes in terms of localization, size, and nucleotide composition.

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