• L-2-hydroxyglutaric aciduria diagnosed in an adult presenting with acute deterioration.

      Saidha, Shiv; Murphy, Sinead; McCarthy, Peter; Mayne, Philip D; Hennessy, Michael (Journal of neurology, 2010-01)
    • Laboratory assessment of iron status in pregnancy.

      Walsh, Thomas; O'Broin, Sean D; Cooley, Sharon; Donnelly, Jennifer; Kennedy, John; Harrison, Robert F; McMahon, Corinna; Geary, Michael; Rotunda Hospital, Dublin, Ireland. (2012-02-01)
      BACKGROUND: Efforts to improve maternal nutrition during pregnancy prompted an observational study of the occurrence of maternal iron deficiency and its laboratory diagnosis in almost 500 pregnancies. METHODS: In this longitudinal study, the biochemical and haematological iron indices of women (n=492) attending a prenatal clinic in a Dublin maternity hospital were assessed at first booking (mean 15.9 weeks), and after 24 weeks, and 36 weeks of gestation. Full blood counts were measured. Serum ferritin (SF), zinc protoporphyrin (ZPP), and transferrin receptor (sTfR) concentrations were assayed and transferrin receptor index (sTfR-Index) was calculated. The occurrence of low values and their diagnostic values were considered. RESULTS: A high occurrence iron deficiency (ID) at first booking (SF<12 mug/L) had increased over six-fold by 24 weeks, and all biochemical iron indices reflected progressive iron depletion right up to term. The WHO recommended anaemia "cut-off" (Hb<110 g/L) was insensitive to biochemical iron deficiency at booking, missing over 90% of the low SF values (SF<12 mug/L) which were mostly associated with much higher Hb levels. CONCLUSIONS: This study stresses the importance of including a biochemical index of iron status in prenatal screening and supports SF as the best indicator of biochemical ID overall. sTfR was insensitive to iron deficiency in early pregnancy, whereas the sTfR-Index, as a ratio, has the potential to distinguish between ID and physiological anaemia, and may offer stability in the assessment of iron stores from early pregnancy to full term. A policy of early screening of both Hb and SF concentrations is recommended as the minimum requirement for surveillance of maternal iron status in pregnancy.
    • Laboratory assessment of iron status in pregnancy.

      Walsh, Thomas; O'Broin, Sean D; Cooley, Sharon; Donnelly, Jennifer; Kennedy, John; Harrison, Robert F; McMahon, Corinna; Geary, Michael; Rotunda Hospital, Dublin, Ireland. (2011-07)
      Efforts to improve maternal nutrition during pregnancy prompted an observational study of the occurrence of maternal iron deficiency and its laboratory diagnosis in almost 500 pregnancies.
    • Lack of awareness of risk factors for primary toxoplasmosis in pregnancy.

      Ferguson, W; Mayne, P D; Cafferkey, M; Butler, K; Department of Paediatrics, The Rotunda Hospital, Parnell Square, Dublin 1, Ireland. wferguson@rotunda.ie (2011-12)
      The overall seroprevalence of toxoplasma antibodies in women of childbearing age in Ireland is 25% [1]. Hence, 75% of women remain susceptible to primary toxoplasma infection during pregnancy, which if transmitted to the foetus can cause ocular, neurological and other sequelae. Toxoplasma exposure during pregnancy can be avoided if there is an awareness of the potential sources of infection, mainly contaminated food, water, soil and cat faeces.
    • Lack of benefit for the addition of androgen deprivation therapy to dose-escalated radiotherapy in the treatment of intermediate- and high-risk prostate cancer.

      Krauss, Daniel; Kestin, Larry; Ye, Hong; Brabbins, Donald; Ghilezan, Michel; Gustafson, Gary; Vicini, Frank; Martinez, Alvaro; Department of Radiation Oncology, William Beaumont Hospital, Royal Oak, MI 48073,, USA. dkrauss@beaumont.edu (2012-02-01)
      PURPOSE: Assessment of androgen deprivation therapy (ADT) benefits for prostate cancer treated with dose-escalated radiotherapy (RT). METHODS AND MATERIALS: From 1991 to 2004, 1,044 patients with intermediate- (n = 782) or high-risk (n = 262) prostate cancer were treated with dose-escalated RT at William Beaumont Hospital. Patients received external-beam RT (EBRT) alone, brachytherapy (high or low dose rate), or high dose rate brachytherapy plus pelvic EBRT. Intermediate-risk patients had Gleason score 7, prostate-specific antigen (PSA) 10.0-19.9 ng/mL, or Stage T2b-T2c. High-risk patients had Gleason score 8-10, PSA >/=20, or Stage T3. Patients were additionally divided specifically by Gleason score, presence of palpable disease, and PSA level to further define subgroups benefitting from ADT. RESULTS: Median follow-up was 5 years; 420 patients received ADT + dose-escalated RT, and 624 received dose-escalated RT alone. For all patients, no advantages in any clinical endpoints at 8 years were associated with ADT administration. No differences in any endpoints were associated with ADT administration based on intermediate- vs. high-risk group or RT modality when analyzed separately. Patients with palpable disease plus Gleason >/=8 demonstrated improved clinical failure rates and a trend toward improved survival with ADT. Intermediate-risk patients treated with brachytherapy alone had improved biochemical control when ADT was given. CONCLUSION: Benefits of ADT in the setting of dose-escalated RT remain poorly defined. This question must continue to be addressed in prospective study.
    • Lack of cytotoxicity by Trustwater Ecasol™ used to maintain good quality dental unit waterline output water in keratinocyte monolayer and reconstituted human oral epithelial tissue models.

      Boyle, M A; O'Donnell, M J; Russell, R J; Coleman, D C; Microbiology Research Unit, Division of Oral Biosciences, Dublin Dental School & Hospital, University of Dublin, Trinity College Dublin, Lincoln Place, Dublin 2, Ireland. (2010-11)
      We previously showed that residual treatment of dental chair unit (DCU) supply water using the electrochemically-activated solution Trustwater Ecasol™ (2.5 ppm) provided an effective long-term solution to the problem of dental unit waterline (DUWL) biofilm resulting in DUWL output water quality consistently superior to potable water.
    • Lack of differential pattern in central adiposity and metabolic syndrome in Barrett's esophagus and gastroesophageal reflux disease.

      Healy, L A; Ryan, A M; Pidgeon, G; Ravi, N; Reynolds, J V; Department of Clinical Surgery, St. James' Hospital and Trinity College, Dublin, , Ireland. (2012-02-01)
      Obesity is an established risk factor for esophageal adenocarcinoma, although the mechanism is unclear. A pathway from reflux to inflammation through metaplasia is the dominant hypothesis, and an added role relating to visceral adiposity and the metabolic syndrome has been mooted in Barrett's esophagus (BE) patients. Whether BE differs from gastroesophageal reflux disease (GERD) in obesity and metabolic syndrome profiles is unclear, and this was the focus of this study. Patients with proven BE or GERD were randomly selected from the unit data registry and invited to attend for metabolic syndrome screening, anthropometry studies including segmental body composition analysis, and laboratory tests including fasting lipids, insulin, and C-reactive protein. Metabolic syndrome was defined using the National Cholesterol Education Program (NCEP) and the International Diabetes Federation (IDF) criteria. One hundred and eighteen BE patients and 113 age- and sex-matched GERD controls were studied. The incidence of obesity (body mass index >30 kg/m(2)) was 36% and 38%, respectively, with the pattern of fat deposition predominantly central and an estimated trunk fat mass of 13 and 14 kg, respectively. Using the NCEP criteria, metabolic syndrome was significantly more common in the BE cohort (30% vs 20%, P < 0.05), but there was no significant difference using IDF criteria (42% vs 37%, P= 0.340). Central obesity and the metabolic syndrome are common in both Barrett's and GERD cohorts, but not significantly different, suggesting that central obesity and the metabolic syndrome does not per se impact on the development of BE in a reflux population. In BE, the importance of obesity and the metabolic syndrome in disease progression merits further study.
    • Lack of National Consensus for the Molecular Investigation of Myeloproliferative Neoplasms

      Langabeer, SE (Irish Medical Journal, 2015-06)
      The discovery of the JAK2 V617F mutation ten years ago revolutionised the molecular diagnosis of the classical myeloproliferative neoplasms (MPN) of polycythaemia vera, essential thrombocythaemia and primary myelofibrosis with presence of this mutation now considered a major criteria for the diagnosis of these malignancies according to the World Health Organization classification of tumours. 1 Despite these advances, current guidelines maintain the requirement for bone marrow aspirate and biopsy necessary for assessment of morphology and degree of fibrosis critical for therapeutic decisions. While presence or absence of this mutation is beneficial in differentiating between a reactive haematological response (causes include infection, inflammation, tissue damage, hyposplenism, haemorrhage, iron deficiency, malignancy, haemolysis and drug therapy) and a clonal MPN, testing for the JAK2 V617F mutation is becoming an advance test in the initial work up of patients for whom the aforementioned secondary causes have not been fully excluded. The year upon year increase in requests for JAK2 V617F mutation status, despite consistency in the annual number of newly diagnosed MPN patients, has been previously documented. 2
    • Lack of significant metabolic abnormalities in mice with liver-specific disruption of 11β-hydroxysteroid dehydrogenase type 1.

      Lavery, Gareth G; Zielinska, Agnieszka E; Gathercole, Laura L; Hughes, Beverly; Semjonous, Nina; Guest, Phillip; Saqib, Khalid; Sherlock, Mark; Reynolds, Gary; Morgan, Stuart A; et al. (Endocrinology, 2012-07)
      Glucocorticoids (GC) are implicated in the development of metabolic syndrome, and patients with GC excess share many clinical features, such as central obesity and glucose intolerance. In patients with obesity or type 2 diabetes, systemic GC concentrations seem to be invariably normal. Tissue GC concentrations determined by the hypothalamic-pituitary-adrenal (HPA) axis and local cortisol (corticosterone in mice) regeneration from cortisone (11-dehydrocorticosterone in mice) by the 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1) enzyme, principally expressed in the liver. Transgenic mice have demonstrated the importance of 11β-HSD1 in mediating aspects of the metabolic syndrome, as well as HPA axis control. In order to address the primacy of hepatic 11β-HSD1 in regulating metabolism and the HPA axis, we have generated liver-specific 11β-HSD1 knockout (LKO) mice, assessed biomarkers of GC metabolism, and examined responses to high-fat feeding. LKO mice were able to regenerate cortisol from cortisone to 40% of control and had no discernible difference in a urinary metabolite marker of 11β-HSD1 activity. Although circulating corticosterone was unaltered, adrenal size was increased, indicative of chronic HPA stimulation. There was a mild improvement in glucose tolerance but with insulin sensitivity largely unaffected. Adiposity and body weight were unaffected as were aspects of hepatic lipid homeostasis, triglyceride accumulation, and serum lipids. Additionally, no changes in the expression of genes involved in glucose or lipid homeostasis were observed. Liver-specific deletion of 11β-HSD1 reduces corticosterone regeneration and may be important for setting aspects of HPA axis tone, without impacting upon urinary steroid metabolite profile. These discordant data have significant implications for the use of these biomarkers of 11β-HSD1 activity in clinical studies. The paucity of metabolic abnormalities in LKO points to important compensatory effects by HPA activation and to a crucial role of extrahepatic 11β-HSD1 expression, highlighting the contribution of cross talk between GC target tissues in determining metabolic phenotype.
    • Lafora disease: epidemiology, pathophysiology and management.

      Monaghan, Thomas S; Delanty, Norman; Department of Neurology and Neuroscience, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin 9, Ireland. (2010-07-01)
      Lafora disease is a rare, fatal, autosomal recessive, progressive myoclonic epilepsy. It may also be considered as a disorder of carbohydrate metabolism because of the formation of polyglucosan inclusion bodies in neural and other tissues due to abnormalities of the proteins laforin or malin. The condition is characterized by epilepsy, myoclonus and dementia. Diagnostic findings on MRI and neurophysiological testing are not definitive and biopsy or genetic studies may be required. Therapy in Lafora disease is currently limited to symptomatic management of the epilepsy, myoclonus and intercurrent complications. With a greater understanding of the pathophysiological processes involved, there is justified hope for future therapies.
    • Language processing abnormalities in adolescents with psychotic-like experiences: An event related potential study.

      Murphy, Jennifer; Blanchard, Mathieu M; Rawdon, Caroline; Kavanagh, Fergal; Kelleher, Ian; Clarke, Mary C; Roche, Richard A P; Cannon, Mary; Department of Psychology, National University of Ireland, Maynooth, Co. Kildare, Ireland; Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin, Ireland. (2012-05)
      Language impairments are a well established finding in patients with schizophrenia and in individuals at-risk for psychosis. A growing body of research has revealed shared risk factors between individuals with psychotic-like experiences (PLEs) from the general population and patients with schizophrenia. In particular, adolescents with PLEs have been shown to be at an increased risk for later psychosis. However, to date there has been little information published on electrophysiological correlates of language comprehension in this at-risk group. A 64 channel EEG recorded electrical activity while 37 (16 At-Risk; 21 Controls) participants completed the British Picture Vocabulary Scale (BPVS-II) receptive vocabulary task. The P300 component was examined as a function of language comprehension. The at-risk group were impaired behaviourally on receptive language and were characterised by a reduction in P300 amplitude relative to the control group. The results of this study reveal electrophysiological evidence for receptive language deficits in adolescents with PLEs, suggesting that the earliest neurobiological changes underlying psychosis may be apparent in the adolescent period.
    • Laparoscopic adrenalectomy: Single centre experience.

      O'Farrell, N J; Collins, C G; Stafford, A T; Broe, P J; Department of General Surgery, Beaumont Hospital, Beaumont Road, Dublin 9,, Ireland. (2012-02-01)
      BACKGROUND: Laparoscopic adrenalectomy is an attractive alternative to the traditional open approach in the surgical excision of an adrenal gland. It has replaced open adrenalectomy in our institution and we review our experience to date. METHODS: All cases of laparoscopic adrenalectomies in our hospital over eight years (from 2001 to May 2009) were retrospectively reviewed. Patient demographics, diagnosis, length of hospital stay, histology and all operative and post-operative details were evaluated. RESULTS: Fifty-five laparoscopic adrenalectomies (LA) were performed on 51 patients over eight years. The mean age was 48 years (Range 16-86 years) with the male: female ratio 1:2. Twenty-three cases had a right adrenalectomy, 24 had a left adrenalectomy and the remaining four patients had bilateral adrenalectomies. 91% were successfully completed laparoscopically with five converted to an open approach. Adenomas (functional and non functional) were the leading indication for LA, followed by phaeochromocytomas. Other indications for LA included Cushing's disease, adrenal malignancies and rarer pathologies. There was one mortality from necrotising pancreatitis following a left adrenalectomy for severe Cushing's disease, with subsequent death 10 days later. CONCLUSION: Laparoscopic adrenalectomy is effective for the treatment of adrenal tumours, fulfilling the criteria for the ideal minimally invasive procedure. It has replaced the traditional open approach in our centre and is a safe and effective alternative. However, in the case of severe Cushing's disease, laparoscopic adrenalectomy has the potential for significant adverse outcomes and mortality.
    • Laparoscopic colonic resection in inflammatory bowel disease: minimal surgery, minimal access and minimal hospital stay.

      Boyle, E; Ridgway, P F; Keane, F B; Neary, P; Division of Colorectal Surgery, Minimally Invasive Surgery Tallaght, Adelaide, Ireland. (Colorectal disease : the official journal of the Association, 2008-11)
      Laparoscopic surgery for inflammatory bowel disease (IBD) is technically demanding but can offer improved short-term outcomes. The introduction of minimally invasive surgery (MIS) as the default operative approach for IBD, however, may have inherent learning curve-associated disadvantages. We hypothesise that the establishment of MIS as the standard operative approach does not increase patient morbidity as assessed in the initial period of its introduction into a specialised unit, and that it confers earlier postoperative gastrointestinal recovery and reduced hospitalisation compared with conventional open resection.
    • Laparoscopic Heller's cardiomyotomy.

      Doodnath, R; Gillick, J; Children's Research Centre, Our Lady's Children's Hospital, Crumlin, Dublin., rdoodnath@gmail.com (2012-02-01)
      Achalasia is a rare motility disorder which causes failure of relaxation of the lower oesophageal sphincter (LES) and is thought to affect 0.31/100,000 children per year in Ireland. The classic presentation is difficulty swallowing and vomiting undigested food, and children can often present with chest pain. In some instances, these symptoms can lead to considerable weight loss. In this report, we present 2 cases of patients with achalasia who have also been the first 2 cases of laparoscopic Heller's cardiomyotomy performed in children in the Republic of Ireland.
    • Laparoscopic hemicolectomy for cutaneous malignant melanoma metastasis to the ileocaecal valve

      Boland, T; Burke, J; Morrin, M; Deasy, J (Irish Medical Journal (IMJ), 2014-02)
      Colonic tumours are most frequently primary and lesions secondary to metastasis are uncommon. Malignant melanoma is an aggressive cancer, with a tendency to metastasize and recur. This report describes the case of a 66-year-old man who underwent wide local excision and adjuvant therapy for malignant melanoma three years prior to presentation with loose stools, abdominal cramps and iron deficiency anaemia. CT colonography showed a 6cm ileocaecal mass, and following a laparoscopic right hemicolectomy, histological examination revealed a metastatic melanoma to the ileocaecal valve. Subsequent positron emission tomography showed no residual metastatic disease. Malignant melanoma metastasis to the colon is a rare clinical entity. Metastectomy via laparoscopic right hemicolectomy is an appropriate and effective treatment.
    • Laparoscopic lavage for perforated diverticulitis: a population analysis.

      Rogers, Ailín C; Collins, Danielle; O'Sullivan, Gerald C; Winter, Desmond C; Institute for Clinical Outcomes Research & Education and Centre for Colorectal Disease, St Vincent's University Hospital, Elm Park, Dublin, Ireland. (2012-09)
      Laparoscopic lavage has shown promising results in nonfeculent perforated diverticulitis. It is an appealing strategy; it avoids the complications associated with resection. However, there has been some reluctance to widespread uptake because of the scarcity of large-scale studies.
    • Laparoscopic nephrectomy: initial experience with 120 cases.

      Cheema, I A; Manecksha, R P; Murphy, M; Flynn, R; Urology Department, The Adelaide and Meath Hospital, Tallaght, Dublin 24., ijazacheema@hotmail.com (2012-02-01)
      Laparoscopic nephrectomy for both benign and malignant diseases of kidney is increasingly being performed. We report our experience with the first 120 consecutive laparoscopic nephrectomy performed in our hospital. It is the retrospective analysis of a prospectively maintained database of 4 years period. The parameters examined included age, gender, indications, operative time, blood loss, intraoperative and post operative complications. Mean age of surgery was 59 years (rang 19-84years). The indications for surgery included solid renal masses (71 patients), non-functioning kidneys (43), and collecting system tumours (6). The mean operating time was 132 minutes (range 75-270), average blood loss was 209 ml (range 0-1090) and average hospital stay was 4.7days (range 2-20). Bleeding, bowel injury and poor progression of laparoscopic procedure were the reasons in 7 (5.8%) cases converted to open surgery. There was 1 (0.8%) perioperative mortality. Eight (6.6%) patients developed post operative complications. Laparoscopic nephrectomy has inherent benefits and may be considered an alternate therapeutic option for kidney diseases with acceptable morbidity
    • Laparoscopic Nissen Fundoplication post-oesophageal stenting: an unusual case

      Daruwalla, ZJ; Powles, S; Arumugasamy, M; Patchett, S; Broe, P (Irish Medical Journal, 2012-09)
    • Laparoscopic pelvic sling placement facilitates optimum therapeutic radiotherapy delivery in the management of pelvic malignancy.

      Joyce, M; Thirion, P; Kiernan, F; Byrnes, C; Kelly, P; Keane, F; Neary, P; Division of Colorectal Surgery, Minimally Invasive Surgery, The Adelaide and, Meath Hospital, Tallaght, Dublin 24, Ireland. mylesjoyce@eircom.net (2012-02-01)
      BACKGROUND: Radiotherapy has a significant role in the management of pelvic malignancies. However, the small intestine represents the main dose limiting organ. Invasive and non-invasive mechanical methods have been described to displace bowel out of the radiation field. We herein report a case series of laparoscopic placement of an absorbable pelvic sling in patients requiring pelvic radiotherapy. METHODS: Six patients were referred to our minimally invasive unit. Four patients required radical radiotherapy for localised prostate cancer, one was scheduled for salvage localised radiotherapy for post-prostatectomy PSA progression and one patient required adjuvant radiotherapy post-cystoprostatectomy for bladder carcinoma. All patients had excessive small intestine within the radiation fields despite the use of non-invasive displacement methods. RESULTS: All patients underwent laparoscopic mesh placement, allowing for an elevation of small bowel from the pelvis. The presence of an ileal conduit or previous surgery did not prevent mesh placement. Post-operative planning radiotherapy CT scans confirmed displacement of the small intestine allowing all patients to receive safely the planned radiotherapy in terms of both volume and radiation schedule. CONCLUSION: Laparoscopic mesh placement represents a safe and efficient procedure in patients requiring high-dose pelvic radiation, presenting with unacceptable small intestine volume in the radiation field. This procedure is also feasible in those that have undergone previous major abdominal surgery.