Mitochondrial tRNA Ser(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension Abstract Objective The objective of the study was to investigate the association between mitochondrial DNA (mtDNA) mutations and essential hypertension (EH). Methods One Han Chinese pedigree with maternally inherited EH was recruited in the current study. The matrilineal relatives from this family underwent clinical, genetic, and molecular analysis. Moreover, the mtDNA gene mutations were screened by PCR and direct Sanger sequence. Evolutionary conservation was performed and the secondary structure of mt-tRNASer(UCN) with and without the 7471delC was evaluated by the RNA Fold Webserver program. Moreover, the pathogenicity scoring system was used to assess the 7471delC. Results This Chinese pedigree exhibited a relative high penetrance and expressivity of EH. Of 13 matrilineal relatives, 5 of them suffered from high blood pressure (BP). Genetic analysis of the complete mtDNA genes showed the presence of a novel tRNASer(UCN) 7471delC, together with a set of polymorphisms belonging to the human mitochondrial haplogroup G2a1. In fact, the 7471delC occurred within the T-stem and extra arm of tRNASer(UCN), which was very conserved from bacteria to human mitochondria. Interestingly, the 7472insC which was located at the same position had been regarded as a pathogenic mutation associated with non-syndromic hearing loss. In addition, bioinformatics analysis revealed that the 7471delC affected the secondary structure of tRNASer(UCN). The pathogenicity scoring system showed that the 7471delC may be “possibly pathogenic” associated with EH. Conclusion We believed that the 7471delC may impair the mitochondrial functional and played an active role in the pathogenesis of EH in this pedigree. The 7471delC may be a novel risk factor for maternally transmitted EH. UCD School of Medicine, Summer Student Research Awards 2019, 25th September 2019, UCD, Dublin, Ireland

Connolly Hospital Trauma Assessment Clinic (TAC): a virtual solution to patient flow Abstract Background Trauma Assessment Clinics (TAC) were pioneered by the Glasgow Royal Infirmary Group. Patients deemed for non-operative management are referred to the TAC for review by an orthopaedic consultant with multidisciplinary team (MDT) support. Connolly Hospital launched a TAC on 11 September 2018. Aims The goal of this study was to evaluate the effect the introduction of this initiative had on patient flow in our institution. Methods We performed a retrospective review of the Connolly Hospital TAC for the 6-month period since its introduction. We evaluated patient demographics, injuries and outcomes. Furthermore, we retrospectively reviewed the fracture and elective clinic attendances pre- and post-TAC introduction. Results Over the first 6 months of this initiative, there were 36 trauma assessment clinics. Two hundred forty-seven patients were reviewed with an average age of 42.3 years. 42.9% (N = 106) was reviewed directly by the physiotherapy department. 31.6% (N = 78) was scheduled directly for fracture clinic follow-up from the TAC. 8.2% (N = 45) was discharged directly to their GP from TAC. A review of fracture clinic attendances for the corresponding time period the previous year (from September 2017), highlighted a 22% decrease in new fracture clinic appointments. Conclusions Following the introduction of the TAC, we noted a marked reduction in fracture clinic attendances. Our outcomes were consistent with results from other units. We established two injection clinics as a direct result of the time saved from the TAC. It has proven to be of benefit to both the trauma and elective patients in our institution.

Factors influencing surgical management of acute appendicitis in a large university hospital without a dedicated emergency theatre Abstract Background Acute appendicitis is the most common surgical emergency. Its management reflects the efficacy of acute care surgery. Limited theatre space is an escalating issue, especially without dedicated emergency theatre access. Pre-operative delays are associated with longer length of stay, higher costs and post-operative complications. Aims Calculate time to theatre (TTT) from admission to appendicectomy and investigate factors impacting TTT. Methods A retrospective review of all emergency appendicectomies from June 2017 to October 2018. Demographic, clinico-pathological and radiological data were extracted from electronic patient record. Results One hundred forty-eight patients underwent emergency appendicectomy during the study period. Fifty-six percent (n = 84) were male, and the median (range) age was 30.5 (17–76) years. Sixty-one percent had pre-operative imaging. The median (range) TTT was 18.37 (2–114) h; 7.5% (n = 11) waited > 48 h, 29.7% (n = 44) were operated on after 8 p.m. and 26% (n = 38) were done on elective lists. Male gender, admission CRP > 100 and admission before 12 p.m. significantly shortened TTT (p = 0.030, p = 0.004 and p = 0.001, respectively). However, pre-operative ultrasound, previous acute appendicitis and surgery on an elective list significantly prolonged TTT (p = 0.015 and p = 0.024, respectively). The median (range) LOS was 3 (1–24) nights. Ten percent (n = 15) had post-operative complications; however, longer TTT was not associated with higher complication rates (p = 0.196). Conclusions This review highlights the impact of limited theatre access for on-call emergency admissions, with a significant portion of appendicectomies being done on elective lists or out-of-hours.

What happens to muscles in fibromyalgia syndrome Abstract Background The main somatic symptoms of fibromyalgia syndrome (FMS) are chronic musculoskeletal pain, stiffness, and fatigue, all of which are related to the muscle system and its functioning. Aims The aim of this study was to evaluate whether the asymptomatic upper and lower extremity muscles evaluated using ultrasonography (US) were different from healthy controls in both newly diagnosed and established FMS and to assess whether muscle measurements were related to fatigue and disease severity, as well as quality of life. Methods This study was conducted on 152 subjects (102 patients and 50 healthy controls) as a cross-sectional controlled trial. Real-time imaging of cross-sectional thickness (CST) (for deltoid, biceps brachii, triceps brachii, forearm flexor, tibialis anterior, and gastrocnemius medialis), and cross-sectional areas (CSAs) (quadriceps femoris (QF)) measurements were performed using US. Fatigue and disease severity as well as quality of life scales were given to all participants. Results In both patient groups, decreased QF muscle CSA was significantly correlated with increased fatigue severity and decreased overall quality of life and energy levels. Moreover, in patients with established disease, there was a significant correlation between the decrease in QF muscle CSA and increased social isolation and between the decrease in biceps brachii muscle CST and increased fatigue severity. Conclusions Whether in newly diagnosed or established disease, muscle measurement values and quality of life parameters were significantly decreased in patients with FMS compared with healthy controls.

The effect of spinal manipulation on brain neurometabolites in chronic nonspecific low back pain patients: a randomized clinical trial Abstract Background In patients with chronic nonspecific low back pain (NCLBP), brain function changes due to the neuroplastic changes in different regions. Aim The current study aimed to evaluate the brain metabolite changes after spinal manipulation, using proton magnetic resonance spectroscopy (1H-MRS). Methods In the current study, 25 patients with NCLBP aged 20–50 years were enrolled. Patients were randomly assigned to lumbopelvic manipulation or sham. Patients were evaluated before and 5 weeks after treatment by the Numerical Rating Scale (NRS), the Oswestry Disability Index (ODI), and 1H-MRS. Results After treatment, severity of pain and functional disability were significantly reduced in the treatment group vs. sham group (p < 0.05). After treatment, N-acetyl aspartate (NAA) in thalamus, insula, dorsolateral prefrontal cortex (DLPFC) regions, as well as choline (Cho) in the thalamus, insula, and somatosensory cortex (SSC) regions, had increased significantly in the treatment group compared with the sham group (p < 0.05). A significant increase was further observed in NAA in thalamus, anterior cingulate cortex (ACC), and SCC regions along with Cho metabolite in thalamus and SCC regions after treatment in the treatment group compared with the baseline measures (p < 0.05). Also, a significant increase was observed in Glx (glutamate and glutamine) levels of thalamus (p = 0.03). There was no significant difference in terms of brain metabolites at baseline and after treatment in the sham group. Conclusion In the patient with low back pain, spinal manipulation affects the central nervous system and changes the brain metabolites. Consequently, pain and functional disability are reduced.

An observational analysis of meal patterns in overweight and obese pregnancy: exploring meal pattern behaviours and the association with maternal and fetal health measures Abstract Background Nutrient intakes are known to be poorer among pregnant women with raised body mass index (BMI) than those with a healthy BMI. While meal patterns have the potential to influence obstetric, metabolic and anthropometric measures for mother and infant, limited data exists regarding meal patterns among pregnant women with raised BMI. Aim To identify categories of meal patterns among pregnant women with overweight and obesity and determine whether patterns change with advancing gestation. To determine if maternal meal patterns are associated with dietary intakes and pregnancy outcomes. Methods Prospective, observational analysis of pregnant women (n = 143) (BMI 25–39.9 kg/m2). Meal pattern data were analysed from 3-day food diaries at 16 and 28 weeks’ gestation. Outcomes include maternal blood glucose, insulin resistance, gestational diabetes, gestational weight gain and infant anthropometry. Results Three meal pattern categories were identified: ‘main meal dominant’ (3 main eating occasions + 0–3 snacks), ‘large meal dominant’ (≤ 2 main eating occasions + < 2 snacks), and ‘snack dominant’ (3 main eating occasions + > 3 snacks and ≤ 2 main + ≥ 2 snacks). A main meal–dominant pattern prevailed at 16 weeks’ (85.3%) and a snack-dominant pattern at 28 weeks’ (68.5%). Dietary glycaemic index was lower among the main meal versus large meal–dominant pattern at 28 weeks (P = 0.018). Infant birth weight (kg) and macrosomia were highest among participants with a large meal–dominant pattern at 28 weeks (P = 0.030 and P = 0.008, respectively). Conclusion Women with raised BMI changed eating patterns as pregnancy progressed, moving from main meal–dominant to snack-dominant patterns. Large meal–dominant meal patterns in later pregnancy were associated with higher glycaemic index and greater prevalence of macrosomia.

Accidental dural puncture and post-dural puncture headache: a retrospective review in an Irish maternity hospital Abstract Background Accidental dural puncture (ADP) during epidural catheter insertion and the possible consequent post-dural puncture headache (PDPH) remain challenging complications in obstetric anaesthesia. ADP/PDPH can represent a considerable degree of morbidity for the parturient and require immediate diagnosis and appropriate management to ensure recovery and avoid complications. Aim This retrospective audit was carried out to identify the accidental dural puncture and post-dural puncture headache rates at the Coombe Women and Infant University Hospital in Dublin. Methods Cases of ADP and PDPH were identified retrospectively from a register used to record these cases. Demographic and obstetric data was retrieved using the patients’ medical records. Analysis was carried using MS Excel. Results In 1 year (June 1, 2018 to June 1, 2019), there were 25 cases of ADP during epidural catheter insertion and this is 0.78% of epidurals done in this period. Seventeen of these (68%) subsequently developed PDPH. In total, there are 32 cases of PDPH: 27 after epidural analgesia using an 18G Touhy needle and 5 after a spinal anaesthetic using a 25G Whitacre needle. All PDPH cases received first-line conservative treatment and 9 (28.1%) required an epidural blood patch (EBP). No-one required a second EBP. Discussion The incidence of ADP at our hospital (0.78%) is within the range quoted in the literature (0.1–1.5%) and below the UK standard of 1%. The incidence of PDPH after recognized ADP (68%) is also consistent with other published reports.

The effects of a comprehensive rehabilitation and intensive education program on anxiety, depression, quality of life, and major adverse cardiac and cerebrovascular events in unprotected left main coronary artery disease patients who underwent coronary artery bypass grafting Abstract Objective This study aimed to explore the effect of a comprehensive rehabilitation and intensive education (CRIE) program on anxiety, depression, quality of life (QoL), and major adverse cardiac and cerebrovascular events (MACCE) risk in unprotected left main coronary artery disease (ULMCAD) patients who underwent coronary artery bypass grafting (CABG). Methods In total, 300 ULMCAD patients who underwent CABG were randomly assigned to the CRIE group or usual care (UC) group in a 1:1 ratio. During a 12-month intervention, anxiety and depression were evaluated by Hospital Anxiety and Depression Scale (HADS), QoL was evaluated by 12-Item Short-Form Health Survey (SF-12), on discharge day from hospital (M0), and at 3 months after the discharge (M3), M6, and M12. All patients were further followed up until occurrence of MACCE or for an additional 24 months, and MACCE accumulating occurrence rate was calculated. Results At M12, HADS-anxiety score and anxiety prevalence (17.3% vs. 29.3%) were decreased in the CRIE group than those in the UC group, meanwhile HADS-depression score and depression prevalence (15.3% vs. 24.7%) were also reduced in the CRIE group than those in the UC group. For QoL, SF-12 Physical Component Summary (PCS) score at M6/M12, and SF-12 PCS score change (M12 − M0) were increased in the CRIE group than those in the UC group; meanwhile, SF-12 Mental Component Summary (MCS) score at M12 and SF-12 PCS score change (M12 − M0) were increased in the CRIE group than those in the UC group as well. Besides, MACCE accumulating occurrence rate was numerically lower in the CRIE group compared with that in the UC group but without statistical significance. Conclusions CRIE is an effective approach in improving anxiety, depression, and QoL in ULMCAD patients who underwent CABG.

Evaluation of simple inflammatory blood parameters in patients with migraine Abstract Aim This study aimed to identify the serum neutrophil/lymphocyte ratio (NLR), monocyte/lymphocyte ratio (MLR), platelet/lymphocyte ratio (PLR), and C-reactive protein (CRP)/albumin (CAR) ratios among patients with diagnosis of migraine according to migraine subtypes (attack/attack-free period, migraine with or without aura, episodic/chronic migraine, family history/no family history) and to collect data to investigate the role of inflammation and oxidative stress in etiology. Method The study was completed with 235 patients with migraine diagnosis classified according to the International Classification of Headache Disorders-2013(ICHD) classification and 166 healthy controls. Patients with migraine were assessed during the attack by emergency medicine specialists in the emergency room and in attack-free periods in neurology clinics by neurology specialists. Results Of patients with migraine, 77.02% were female and 22.98% were male. The neutrophil, NLR, PLR, and MLR levels were higher than the control group (p < 0.05). The serum CRP, neutrophil, NLR, MLR, and CAR levels were higher, and albumin and lymphocyte levels were lower during migraine attack periods (p < 0.05). Migraines with aura were observed to have higher serum NLR levels compared to the aura-free patients (p < 0.05). Migraine patients with positive family history were found to have higher NLR levels compared to patients without a family history (p < 0.05). Conclusion Although non-specific, serum NLR, MLR, PLR, and CAR levels may be potential biomarkers associated with migraine subtypes with different clinical features such as migraine attack period, migraine with aura, and patients with family history of migraine. Elevated inflammatory markers may indicate the severity of disease.