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  1. Article ; Online: Novel genetic variant in hereditary spastic paraparesis.

    Knight, Kathryn A W / Barbour-Hastie, Catriona / Gane, Angus / O'Riordan, Jonathan

    BMJ case reports

    2024  Volume 17, Issue 4

    Abstract: A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in ... ...

    Abstract A man in his 30s was referred to neurology with right-sided paraesthesia, tremors, chest pain and lower urinary tract and erectile dysfunction. He had a medical history of left acetabular dysplasia, and subjective memory impairment, the latter being in the context of depression and chronic pain with opioid use. There was no notable family history. On examination, he had a spastic paraparesis. Imaging revealed atrophy of the thoracic spine. Lumbar puncture demonstrated a raised protein but other constituents were normal, including no presence of oligoclonal bands. Genetic testing revealed a novel heterozygous likely pathogenic SPAST variant c. 1643A>T p.(Asp548Val), confirming the diagnosis of hereditary spastic paraparesis. Symptomatic treatment with physiotherapy and antispasmodic therapy was initiated. This is the first study reporting a patient with this SPAST variant. Ensembl variant effect predictor was used, with the application of computational variant prediction tools providing support that the variant we have identified is likely deleterious and damaging. Our variant CADD score was high, indicating that our identified variant was a highly deleterious substitution.
    MeSH term(s) Male ; Humans ; Paraparesis, Spastic/genetics ; Spastic Paraplegia, Hereditary/genetics ; Pedigree ; Proteins/genetics ; Genetic Testing ; Mutation ; Spastin/genetics
    Chemical Substances Proteins ; SPAST protein, human (EC 5.6.1.1) ; Spastin (EC 3.6.4.3)
    Language English
    Publishing date 2024-04-17
    Publishing country England
    Document type Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2022-252396
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  2. Book ; Conference proceedings: The endocrinology of bone

    O'Riordan, J. L.

    the proceedings of a symposium held at University College London Medical School to mark the retirement of Professor J. L. H. O'Riordan [held in September 1996]

    (Journal of endocrinology ; 154, Suppl. = Special issue)

    1997  

    Institution Medical School
    Author's details guest ed.: S. Farrow
    Series title Journal of endocrinology ; 154, Suppl. = Special issue
    The journal of endocrinology
    Collection The journal of endocrinology
    Keywords Bone and Bones / physiopathology / congresses ; Rickets / congresses ; Parathyroid Hormones / physiology / congresses
    Language English
    Size S78 S. : Ill., graph. Darst.
    Publisher Journal of Endocrinology Ltd
    Publishing place Bristol
    Publishing country Great Britain
    Document type Book ; Conference proceedings
    HBZ-ID HT007673899
    Database Catalogue ZB MED Medicine, Health

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    Uh III Zs 133 -154,Suppl.- verfügbar in Königswinter Königswinter

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  3. Article: Let's talk about sex(ual) wellbeing! Staff perceptions of implementing a novel service for people with Multiple Sclerosis.

    Jarvis, Laura / McConville, Kevin / Devereux, Sonia / O'Riordan, Jonathan

    Multiple sclerosis journal - experimental, translational and clinical

    2022  Volume 8, Issue 1, Page(s) 20552173211072285

    Abstract: Background: In people with multiple sclerosis (PwMS), a complex interplay of neurological dysfunction, polypharmacy and psychological issues, contrive to impair their sexual and reproductive wellbeing. Realising an unmet need, the Tayside MS service in ... ...

    Abstract Background: In people with multiple sclerosis (PwMS), a complex interplay of neurological dysfunction, polypharmacy and psychological issues, contrive to impair their sexual and reproductive wellbeing. Realising an unmet need, the Tayside MS service in collaboration with a sexual health clinician (LJ), established a 'Pelvic Health Clinic' to improve quality of life for PwMS.
    Objective: To explore clinician's perceptions of implementing an MS Pelvic Health service with a view to establishing future outcomes for health care professionals about the utility in such a service.
    Method: In this small-scale qualitative case study, we explored clinician's perceptions of such a clinic adjunct. Semi-structured interviews were conducted, transcribed, and thematically analysed in a reflexive manner.
    Results: Five participants consented. Ten sub-themes emerged, which were organised into three main themes: service tensions, patient needs and practitioner feelings.
    Conclusion: Clinicians highly valued the new MS 'pelvic health clinic'. Knowing that there was a service available empowered clinicians to ask patients about sexual health needs. Specific referral criteria may help further develop the service and improve patient care. Staff welcome training and support in this area or the option to signpost onwards; either mechanism lends itself to enhancing MS patient needs.
    Language English
    Publishing date 2022-01-06
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2841884-0
    ISSN 2055-2173 ; 2055-2173
    ISSN (online) 2055-2173
    ISSN 2055-2173
    DOI 10.1177/20552173211072285
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  4. Article ; Online: Efferent limb stimulation prior to loop ileostomy closure: a systematic review and meta-analysis.

    Lloyd, A J / Hardy, N P / Jordan, P / Ryan, E J / Whelan, M / Clancy, C / O'Riordan, J / Kavanagh, D O / Neary, P / Sahebally, S M

    Techniques in coloproctology

    2023  Volume 28, Issue 1, Page(s) 15

    Abstract: Background: Postoperative ileus (POI) remains a common phenomenon following loop ileostomy closure. Our aim was to determine whether preoperative physiological stimulation (PPS) of the efferent limb reduced POI incidence.: Methods: A PRISMA-compliant ...

    Abstract Background: Postoperative ileus (POI) remains a common phenomenon following loop ileostomy closure. Our aim was to determine whether preoperative physiological stimulation (PPS) of the efferent limb reduced POI incidence.
    Methods: A PRISMA-compliant meta-analysis searching PubMed, EMBASE and CENTRAL databases was performed. The last search was carried out on 30 January 2023. All randomized studies comparing PPS versus no stimulation were included. The primary endpoint was POI incidence. Secondary endpoints included the time to first passage of flatus/stool, time to resume oral diet, need for nasogastric tube (NGT) placement postoperatively, length of stay (LOS) and other complications. Random effects models were used to calculate pooled effect size estimates. Trial sequential analyses (TSA) were also performed.
    Results: Three randomized studies capturing 235 patients (116 PPS, 119 no stimulation) were included. On random effects analysis, PPS was associated with a quicker time to resume oral diet (MD - 1.47 days, 95% CI - 2.75 to - 0.19, p = 0.02), shorter LOS (MD - 1.47 days, 95% CI - 2.47 to - 0.46, p = 0.004) (MD - 1.41 days, 95% CI - 2.32 to - 0.50, p = 0.002, I2 = 56%) and fewer other complications (OR 0.42, 95% CI 0.18 to 1.01, p = 0.05). However, there was no difference in POI incidence (OR 0.35, 95% CI 0.10 to 1.21, p = 0.10), the requirement for NGT placement (OR 0.50, 95% CI 0.21 to 1.20, p = 0.12) or time to first passage of flatus/stool (MD - 0.60 days, 95% CI - 1.95 to 0.76, p = 0.39). TSA revealed imprecise estimates for all outcomes (except LOS) and further studies are warranted to meet the required information threshold.
    Conclusions: PPS prior to stoma closure may reduce LOS and postoperative complications albeit without a demonstrable beneficial effect on POI. Further high-powered studies are required to confirm or refute these findings.
    MeSH term(s) Humans ; Ileostomy/adverse effects ; Flatulence/complications ; Postoperative Complications/etiology ; Postoperative Complications/prevention & control ; Ileus/etiology
    Language English
    Publishing date 2023-12-14
    Publishing country Italy
    Document type Meta-Analysis ; Systematic Review ; Journal Article ; Review
    ZDB-ID 2083309-X
    ISSN 1128-045X ; 1123-6337
    ISSN (online) 1128-045X
    ISSN 1123-6337
    DOI 10.1007/s10151-023-02875-2
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    Zs.A 5842: Show issues Location:
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  5. Book: Essentials of endocrinology

    O'Riordan, J. L.

    1988  

    Author's details ed. by J. L. H. O'Riordan
    Keywords Endocrinology
    Size XII, 276 S. : Ill., graph. Darst.
    Edition 2. ed.
    Publisher Blackwell
    Publishing place Oxford u.a.
    Publishing country Great Britain
    Document type Book
    HBZ-ID HT003135306
    ISBN 0-632-02112-8 ; 978-0-632-02112-3
    Database Catalogue ZB MED Medicine, Health

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    Shelf markLoan statusLocation
    1988 A 2884 order for loan Magazin

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  6. Article ; Online: Advance care planning and health literacy in older dialysis patients: qualitative interview study.

    O Riordan, Julien / Kane, P M / Noble, Helen / Smyth, Andrew

    BMJ supportive & palliative care

    2021  

    Abstract: Objectives: Low health literacy among older adults is associated with limited engagement in end-of-life care planning, higher hospitalisation rates and increased mortality. Frequently, older dialysis patients derive no survival benefit from dialysis and ...

    Abstract Objectives: Low health literacy among older adults is associated with limited engagement in end-of-life care planning, higher hospitalisation rates and increased mortality. Frequently, older dialysis patients derive no survival benefit from dialysis and their quality of life often deteriorates further on dialysis. Older dialysis patients' values and wishes are frequently unknown during key healthcare decision making and many endure medically intensive end-of-life scenarios. The objectives of this study were to explore older dialysis patients' understanding of haemodialysis, to explore their engagement in end-of-life care planning and to explore their satisfaction with life on haemodialysis.
    Methods: 15 older dialysis patients participated in qualitative semistructured interviews in two haemodialysis units in Ireland. Thematic saturation was reached. Thematic analysis, applied inductively, was used to distill the data.
    Results: Themes identified included disempowerment among participants reflected limited health literacy, poor advance care planning compromised participant well-being, haemodialysis compromised participants' core values.
    Conclusion: Health literacy levels among older dialysis patients are poor, patient empowerment is limited and their participation in shared decision making and advance care planning is suboptimal. Consequently, healthcare decision making, including haemodialysis, may jeopardise patients' core values. Improving health literacy through enhanced patient education and improved communication skills training for clinicians is necessary to promote patient participation in shared decision making. Clinician training to facilitate discussion of patients' values and wishes will help guide clinicians and patients towards healthcare decisions most concordant with patients' core values. This approach will optimise the circumstances for patient-centred care.
    Language English
    Publishing date 2021-11-15
    Publishing country England
    Document type Journal Article
    ISSN 2045-4368
    ISSN (online) 2045-4368
    DOI 10.1136/bmjspcare-2021-003273
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  7. Article ; Online: Advance care planning in older dialysis patients: health care literacy qualitative study.

    O Riordan, Julien / Kane, P M / Noble, Helen / Smyth, Andrew

    BMJ supportive & palliative care

    2021  

    Abstract: Objectives: Low health literacy among older adults is associated with limited engagement in end-of-life care plans, more hospitalisations and excess mortality. Frequently, older patients derive no survival benefit from dialysis and quality of life often ...

    Abstract Objectives: Low health literacy among older adults is associated with limited engagement in end-of-life care plans, more hospitalisations and excess mortality. Frequently, older patients derive no survival benefit from dialysis and quality of life often deteriorates with dialysis. Older dialysis patients' values and wishes are often unknown during key healthcare decision-making and many endure medically intensive end-of-life interventions . The objectives of this study were to examine older dialysis patients' understanding of haemodialysis, their engagement in end-of-life care planning and their satisfaction with life on haemodialysis.
    Methods: 15 older dialysis patients participated in qualitative semi-structured interviews in two haemodialysis units . Thematic saturation was reached. Thematic analysis, applied inductively, distilled the data.
    Results: Themes identified included disempowerment which reflected limited health literacy, poor advance care planning compromised well-being and haemodialysis compromised their core values.
    Conclusion: Health literacy among older dialysis patients appeared poor, patient empowerment was limited and participation in shared decision-making and advance care planning suboptimal. Consequently, complex healthcare decision-making, including haemodialysis may jeopardise patients' core values. These findings have significant implications for the validity of the informed consent process prior to dialysis initiation. Improved health literacy through enhanced patient education and better communication skills for clinicians are necessary to promote patient participation in shared decision-making. Clinician training to facilitate discussion of patients' values and wishes will help guide clinicians and patients towards healthcare decisions most concordant with individual core values. This will optimise patient-centred care.
    Language English
    Publishing date 2021-10-11
    Publishing country England
    Document type Journal Article
    ISSN 2045-4368
    ISSN (online) 2045-4368
    DOI 10.1136/bmjspcare-2021-003398
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  8. Article ; Online: A contemporary series of surgical outcomes following subtotal colectomy and/or completion proctectomy for management of inflammatory bowel disease.

    Burns, Lucy / Kelly, Michael E / Whelan, Maria / O'Riordan, James / Neary, Paul / Kavanagh, Dara O

    Irish journal of medical science

    2022  Volume 191, Issue 6, Page(s) 2705–2710

    Abstract: Background: The main indications for emergency subtotal colectomy (SC) include management of toxic colitis, refractory haemorrhage and/or perforation. Alternatively, elective surgery is performed for those refractory to medical therapy or with evidence ... ...

    Abstract Background: The main indications for emergency subtotal colectomy (SC) include management of toxic colitis, refractory haemorrhage and/or perforation. Alternatively, elective surgery is performed for those refractory to medical therapy or with evidence of multifocal dysplasia. Overall, the annual incidence of SC has fallen since the introduction of biologic therapies and we aimed to review our current practices.
    Methods: A retrospective review of inflammatory bowel disease (IBD) patients undergoing subtotal colectomy between 2013 and 2020 was performed. Medical records, operative notes, discharge summaries, histopathology reports and other supporting documents were reviewed. Indication for surgery, management of the rectum (i.e. maintenance of rectal stump, progression to completion proctectomy or IPAA formation) associated morbidity (Clavien-Dindo classification) and length of hospital stay were examined.
    Results: Fifty-six IBD patients underwent a subtotal colectomy. Twenty-five patients (UC 14, Crohn's 11) had an elective procedure, and 31 patients (UC 19 Crohn's 12) had an emergency/semi-urgent procedure. Interestingly, 80% (n = 25) of the emergency cohort and 68% (n = 17) of the elective cohort had a laparoscopic resection. Major morbidity (Clavien-Dindo > 2) was higher among the emergency group (39% vs. 24%). Deep surgical site infection was the commonest morbidity (13%) in the emergency group, while superficial surgical site infection was commonest in the elective cohort (20%). Overall, there was no difference in surgical re-intervention rate (13% vs 12%), and there were no perioperative mortalities. Median post-operative length of stay was shorter in the elective cohort (9 versus 13 days).
    Conclusion: A significant proportion of IBD patients still require semi-urgent/emergency colectomy, which is associated with considerable length of stay and morbidity. The results of our study provide real-world outcomes to help counsel patients on expected outcomes.
    MeSH term(s) Humans ; Rectum/surgery ; Ileostomy/adverse effects ; Ileostomy/methods ; Surgical Wound Infection ; Colectomy/adverse effects ; Inflammatory Bowel Diseases/surgery ; Inflammatory Bowel Diseases/complications ; Retrospective Studies ; Treatment Outcome ; Proctectomy ; Postoperative Complications/epidemiology ; Postoperative Complications/etiology ; Colitis, Ulcerative/surgery ; Colitis, Ulcerative/complications
    Language English
    Publishing date 2022-01-17
    Publishing country Ireland
    Document type Journal Article
    ZDB-ID 390895-1
    ISSN 1863-4362 ; 0021-1265
    ISSN (online) 1863-4362
    ISSN 0021-1265
    DOI 10.1007/s11845-021-02907-6
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  9. Article ; Online: Prescribing benzodiazepines in general practice.

    Kennedy, Kieran M / O'Riordan, Julien

    The British journal of general practice : the journal of the Royal College of General Practitioners

    2019  Volume 69, Issue 680, Page(s) 152–153

    MeSH term(s) Benzodiazepines/pharmacology ; Clinical Decision-Making ; Dose-Response Relationship, Drug ; Drug Prescriptions/standards ; Drug Tolerance ; General Practice/ethics ; General Practice/methods ; General Practice/standards ; Humans ; Long Term Adverse Effects/chemically induced ; Long Term Adverse Effects/prevention & control ; Practice Patterns, Physicians' ; Substance-Related Disorders/prevention & control
    Chemical Substances Benzodiazepines (12794-10-4)
    Language English
    Publishing date 2019-02-18
    Publishing country England
    Document type Journal Article
    ZDB-ID 1043148-2
    ISSN 1478-5242 ; 0035-8797 ; 0960-1643
    ISSN (online) 1478-5242
    ISSN 0035-8797 ; 0960-1643
    DOI 10.3399/bjgp19X701753
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  10. Article ; Online: Collating evidence to support the validation of a simulated laparotomy incision and closure-training model.

    Roche, Adam F / Kavanagh, Dara / McCawley, Niamh / O'Riordan, J M / Cahir, Caitriona / Toale, Conor / O'Keeffe, Dara / Lawler, Tim / Condron, Claire M

    American journal of surgery

    2024  

    Abstract: Background: It is essential to evaluate the functionality of surgical simulation models, in order to determine whether they perform as intended. In this study, we assessed the use of a simulated laparotomy incision and closure-training model by ... ...

    Abstract Background: It is essential to evaluate the functionality of surgical simulation models, in order to determine whether they perform as intended. In this study, we assessed the use of a simulated laparotomy incision and closure-training model by collating validity evidence to determine its utility as well as pre and post-test interval data.
    Method: This was a quantitative study design, informed by Messick's unified validity framework. In total, 93 participants (surgical trainees ​= ​80, experts ​= ​13) participated in this study. Evaluation of content validity and the models' relationships with other variables was conducted, along with a pre and post-test confidence assessment.
    Results: The model was deemed realistic and useful as a teaching tool, providing strong content validity evidence. In assessment of relationships with other variables, the expert group out-performed the novice group conclusively. Pre and post-test evaluation reported a statistically significant increase in confidence levels.
    Conclusion: We present strong validity evidence of a novel laparotomy incision and closure simulation-training model.
    Language English
    Publishing date 2024-02-17
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2953-1
    ISSN 1879-1883 ; 0002-9610
    ISSN (online) 1879-1883
    ISSN 0002-9610
    DOI 10.1016/j.amjsurg.2024.02.020
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