• Garre's chronic diffuse sclerosing osteomyelitis of the sacrum: a rare condition mimicking malignancy.

      Nasir, N; Aquilina, K; Ryder, D Q; Marks, C J; Keohane, C; Department of Neuropathology, Cork University Hospital, Wilton, Cork, Ireland. (2012-02-03)
      Garre's chronic diffuse sclerosing osteomyelitis (DSOM) is a rare disease that occurs most commonly in the mandible. We present a case of sacral DSOM that simulated an expanding destructive sacral tumour. Treatment was conducted on the basis of the available experience with the mandibular form of the disease, with partial symptomatic relief, but progressive sclerosis of the sacral lesion. To the best of our knowledge, this is the first case initially presenting in the sacrum. As an osteolytic expanding lesion simulating malignancy, it is important to recognize this entity in the sacrum.
    • Gastric antral vascular ectasia--a cause of refractory anaemia in systemic sclerosis.

      Busteed, S; Silke, C; Molloy, C; Murphy, M; Molloy, M G; Dept. of Rheumatology, Cork University Hospital, Wilton, Ireland., sandra_busteed@hotmail.com (2012-02-03)
      Recurrent gastrointestinal haemorrhage is an uncommon manifestation of systemic sclerosis. We report a case of gastrointestinal bleeding due to gastric antral vascular ectasia (GAVE) in a patient with systemic sclerosis. Failure to recognise the condition as a cause of gastrointestinal bleeding may delay the instigation of appropriate treatment. GAVE should be considered in the differential diagnosis of anaemia in patients with autoimmune conditions such as systemic sclerosis and primary biliary cirrhosis.
    • Gastric electrical stimulation: a report of two cases.

      Sibartie, V; Quigley, E M M; O'Donnell, A; O'Halloran, D; Thompson, C; Alimentary Pharmabiotic Centre, Department of Medicine, Cork University Hospital,, Wilton. vsibartie@hotmail.com (2012-02-03)
      Gastroparesis refractory to prokinetic agents poses a major challenge to the physician and patient, alike. In the past 5 years, electrical methods to treat gastroparesis have emerged from animal and human experiments to a potentially valuable tool in clinical gastroenterology. One of these methods, known as gastric electrical stimulation (GES), is being increasingly used in specialized centres worldwide, but had never been tried in Ireland. We describe here our experience with the first two implantations of gastric neurostimulators performed in Ireland and the outcome with these 2 patients. Our results at 6 months show reduction in symptoms and improvement in quality of life, which is encouraging and should prompt further evaluation of GES for patients with gastroparesis refractory to medical therapy.
    • Gastric pacing for diabetic gastroparesis--does it work?

      Hannon, M J; Dinneen, S; Yousif, O; Thompson, C J; Quigley, E M M; O'Halloran, D J; Department of Endocrinology and Metabolism, Cork University Hospital, Wilton, Cork. markjhannon2002@yahoo.co.uk (2011-05)
      The management of diabetic gastroparesis resistant to medical therapy is very difficult Gastric electrical stimulation (GES) is a relatively new therapeutic modality which has shown some promise in international trials. It has seen use in four patients in Ireland. Our aim was to determine if GES improved patients' outcomes in terms of duration and cost of inpatient stay and glycaemic control. We reviewed the patients' case notes and calculated the number of days spent as an inpatient with symptomatic gastroparesis pre and post pacemaker, the total cost of these admissions, and patients' average HbA1c pre and post GES. Mean length of stay in the year pre GES was 81.75 days and 62.25 days in the year post GES (p=0.89). There was also no improvement in glycaemic control following GES. GES has been ineffective in improving length of inpatient stay and glycaemic control in our small patient cohort.
    • Gender- and Gestational Age-Specific Body Fat Percentage at Birth.

      Hawkes, Colin P; Hourihane, Jonathan O'B; Kenny, Louise C; Irvine, Alan D; Kiely, Mairead; Murray, Deirdre M; Departments of Paediatrics and Child Health and. (2011-08-08)
      Background: There is increasing evidence that in utero growth has both immediate and far-reaching influence on health. Birth weight and length are used as surrogate measures of in utero growth. However, these measures poorly reflect neonatal adiposity. Air-displacement plethysmography has been validated for the measurement of body fat in the neonatal population. Objective: The goal of this study was to show the normal reference values of percentage body fat (%BF) in infants during the first 4 days of life. Methods: As part of a large population-based birth cohort study, fat mass, fat-free mass, and %BF were measured within the first 4 days of life using air-displacement plethsymography. Infants were grouped into gestational age and gender categories. Results: Of the 786 enrolled infants, fat mass, fat-free mass, and %BF were measured in 743 (94.5%) infants within the first 4 days of life. %BF increased significantly with gestational age. Mean (SD) %BF at 36 to 37 weeks' gestation was 8.9% (3.5%); at 38 to 39 weeks' gestation, 10.3% (4%); and at 40 to 41 weeks' gestation, 11.2% (4.3%) (P < .001). Female infants had significantly increased mean (SD) %BF at 38 to 39(11.1% [3.9%] vs 9.8% [3.9%]; P = .012) and at 40 to 41 (12.5% [4.4%] vs 10% [3.9%]; P < .001) weeks' gestation compared with male infants. Gender- and gestational age-specific centiles were calculated, and a normative table was generated for reference. Conclusion: %BF at birth is influenced by gestational age and gender. We generated accurate %BF centiles from a large population-based cohort.
    • Gene-trait matching across the Bifidobacterium longum pan-genome reveals considerable diversity in carbohydrate catabolism among human infant strains.

      Arboleya, S; Bottacini, F; O'Connell-Motherway, M; Ryan, CA; Ross, RP; van Sinderen, D; Stanton, C; University College Cork (Irish Medical Journal, 2018-07)
      Bifidobacterium longum is a common member of the human gut microbiota and is frequently present at high numbers in the gut microbiota of humans throughout life, thus indicative of a close symbiotic host-microbe relationship. Different mechanisms may be responsible for the high competitiveness of this taxon in its human host to allow stable establishment in the complex and dynamic intestinal microbiota environment. The objective of this study was to assess the genetic and metabolic diversity in a set of 20 B. longum strains, most of which had previously been isolated from infants, by performing whole genome sequencing and comparative analysis, and to analyse their carbohydrate utilization abilities using a gene-trait matching approach.
    • General versus regional anaesthesia for cataract surgery: effects on neutrophil apoptosis and the postoperative pro-inflammatory state.

      Goto, Y; Ho, S L; McAdoo, J; Fanning, N F; Wang, J; Redmond, H P; Shorten, G D; Department of Anaesthesia and Intensive Care Medicine, Department of, Ophthalmology, and Department of Surgery, Cork University Hospital, University, College Cork, Ireland. (2012-02-03)
      At clinically relevant concentrations, volatile anaesthetic agents influence neutrophil function. Our hypothesis was that sevoflurane would inhibit neutrophil apoptosis and consequently influence the postoperative pro-inflammatory state. In order to identify selectively the effect of the anaesthetic agent sevoflurane, we studied patients undergoing minimally stimulating (cataract) surgery randomly allocated to receive either sevoflurane (n = 11) or local anaesthesia (n = 12). Venous blood samples were taken immediately prior to anaesthesia and at 1, 8 and 24 h thereafter. The rate of neutrophil apoptosis, plasma concentration of cytokines and differential white cell count were measured. The rates of neutrophil apoptosis and plasma concentrations of IL-1beta, TNF-alpha and IL-8 at each time point were similar in the two groups. IL-6 concentrations increased significantly and to a similar extent compared to preanaesthetic levels at 8 and 24 h. This study demonstrates that sevoflurane does not influence the rate of neutrophil apoptosis, cytokine concentrations and neutrophil count following cataract surgery.
    • Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

      Haroon, Muhammad; Eltahir, Ahmed; Harney, Sinead; Department of Rheumatology, Sports and Exercise Medicine, Cork University Hospital, Cork, Ireland. Mharoon301@hotmail.com (2011-04)
      Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.
    • Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

      Geranmayeh, Fatemeh; Clement, Emma; Feng, Lucy H; Sewry, Caroline; Pagan, Judith; Mein, Rachael; Abbs, Stephen; Brueton, Louise; Childs, Anne-Marie; Jungbluth, Heinz; et al. (Elsevier, 2010-04)
      Merosin deficient congenital muscular dystrophy 1A (MDC1A) results from mutations in the LAMA2 gene. We report 51 patients with MDC1A and examine the relationship between degree of merosin expression, genotype and clinical features. Thirty-three patients had absence of merosin and 13 showed some residual merosin. Compared to the residual merosin group, patients with absent merosin had an earlier presentation (<7days) (P=0.0073), were more likely to lack independent ambulation (P=0.0215), or require enteral feeding (P=0.0099) and ventilatory support (P=0.0354). We identified 33 novel LAMA2 mutations; these were distributed throughout the gene in patients with absent merosin, with minor clusters in exon 27, 14, 25 and 26 (55% of mutations). Patients with residual merosin often carried at least one splice site mutation and less frequently frameshift mutations. This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A.
    • A global perspective on irritable bowel syndrome: a consensus statement of the World Gastroenterology Organisation Summit Task Force on irritable bowel syndrome.

      Quigley, Eamonn M M; Abdel-Hamid, Hussein; Barbara, Giovanni; Bhatia, Shobna J; Boeckxstaens, Guy; De Giorgio, Roberto; Delvaux, Michel; Drossman, Douglas A; Foxx-Orenstein, Amy E; Guarner, Francisco; et al. (2012-08-15)
      Irritable bowel syndrome (IBS) is common in western Europe and North America, and many aspects of its epidemiology, risk factors, and natural history have been described in these regions. Recent data suggest, however, that IBS is also common in the rest of the world and there has been some evidence to suggest some differences in demographics and presenting features between IBS in the west and as it is experienced elsewhere. The World Gastroenterology Organization, therefore, established a Task Force comprising experts on the topic from all parts of the world to examine IBS from a global perspective. IBS does, indeed, seem to be common worldwide though with some significant variations in prevalence rates between regions and countries and there may well be some potentially interesting variations in presenting symptoms and sex distribution. The global map of IBS is far from complete; community-based prevalence data is not available from many areas. Furthermore, while some general trends are evident in terms of IBS impact and demographics, international comparisons are hampered by differences in diagnostic criteria, study location and methodology; several important unanswered questions have been identified that should form the basis for future collaborative research and have the potential to shed light on this challenging disorder.
    • Global suppression of electrocortical activity in unilateral perinatal thalamic stroke.

      Kharoshankaya, Liudmila; Filan, Peter M; Bogue, Conor O; Murray, Deirdre M; Boylan, Geraldine B; Department of Paediatrics and Child Health, University College Cork, Cork, Ireland; Neonatal Brain Research Group, Irish Centre for Fetal and Neonatal Translational Research (INFANT), Cork University Maternity Hospital, Cork, Ireland. (2014-07)
      We present an unusual case of persistent generalized electroencephalography (EEG) suppression and right-sided clonic seizures in a male infant born at 40(+2) weeks' gestation, birthweight 3240g, with an isolated unilateral thalamic stroke. The EEG at 13 hours after birth showed a generalized very low amplitude background pattern, which progressed to frequent electrographic seizures over the left hemisphere. The interictal background EEG pattern remained grossly abnormal over the next 48 hours, showing very low background amplitudes (<10μV). Magnetic resonance imaging revealed an isolated acute left-sided thalamic infarction. This is the first description of severe global EEG suppression caused by an isolated unilateral thalamic stroke and supports the role of the thalamus as the control centre for cortical electrical activity.
    • Gold nanoparticles in stereotactic radiosurgery for cerebral arteriovenous malformations

      Vernimmen, Frederik; Shmatov, Mikhail L. (Journal of Biomaterials and Nanobiotechnology, 2015-07)
      Objective of the study: To explore the potential for therapeutic gain with gold nanoparticles in arteriovenous malformation radiosurgery based on their interaction with photons and protons. Study methods: Radiation dose enhancement resulting from the interaction of gold nanoparticles with irradiation ranging from kilovoltage to megavoltage photons and protons was researched in the literature. The role of angiogenesis and its regulation via vascular endothelial growth factors and cell membrane receptors, especially for endothelial cells in arteriovenous malformations, was investigated as a way for selective arteriovenous malformation deposition. Results: Radiation dose enhancement with gold nanoparticles is described in the literature but has so far only been investigated for its potential in treating malignancies. Because of the high atomic number of gold (Z = 79), dose enhancement occurs with photons mainly based on secondary photon and Auger electron production and the dose enhancement factor is the highest for irradiation with kilo voltage photons. Dose enhancement happens with megavoltage photons also but to a lesser extend and is mainly due to the ionization of gold by secondary photons and electrons generated by the megavoltage photons passing through tissue. The range of the secondary photo electrons emitted by gold is sufficient to cover the entire endothelial cell content. Protons interact with the production of Auger electrons which have a very short range, insufficient to cover the entire contents of endothelial cells, but sufficient to cause a high cell membrane dose for membrane located gold nanoparticles (AuNPs). Arteriovenous malformations are dynamic entities with angiogenesis taking place. This is reflected by a different expression of angiogenic receptors on the membrane of arteriovenous malformation endothelial cells compared to normal brain blood vessels, thereby opening the opportunity for selective deposition of such particles. For the use in proton therapy a new definition for the dose enhancement factor describing the local effect of nanoparticles is proposed. Conclusion: The concept of nanoparticle enhanced radiosurgery for arteriovenous malfor-
    • Granular cell tumour of the neurohypophysis: a rare sellar tumour with specific radiological and operative features.

      Aquilina, K; Kamel, M; Kalimuthu, S G; Marks, J C; Keohane, C; Department of Neurosurgery, Cork University Hospital, Wilton, Cork, Republic of, Ireland. kristianaquilina@hotmail.com (2012-02-03)
      Symptomatic granular cell tumours of the neurohypophysis are rare sellar lesions. Preoperative prediction of the diagnosis on the basis of radiological appearance is useful as these tumours carry specific surgical difficulties. This is possible when the tumour arises from the pituitary stalk, rostral to a normal pituitary gland. This has not been emphasized previously.
    • The gut microbiota in 2011: Translating the microbiota to medicine.

      Shanahan, Fergus; Department of Medicine, Clinical Sciences Building, Cork University Hospital, Wilton, Cork, Ireland. f.shanahan@ucc.ie (2012-02)
    • Haematinic Deficiency and Macrocytosis in Middle-Aged and Older Adults

      McNamee, Therese; Hyland, Trish; Harrington, Janas; Cadogan, Sharon; Honari, Bahman; Perera, Kanthi; Fitzgerald, Anthony P.; Perry, Ivan J.; Cahill, Mary R.; Collins, James F. (2013-11-07)
      Objective To assess the prevalence and determinants of haematinic deficiency (lack of B12 folate or iron) and macrocytosis in blood from a national population-based study of middle-aged and older adults. Methods A cross-sectional study involving 1,207 adults aged ≥45 years, recruited from a sub-study of the Irish National Survey of Lifestyle Attitudes and Nutrition (SLÁN 2007). Participants completed a health and lifestyle questionnaire and a standard food frequency questionnaire. Non-fasting blood samples were obtained for measurement of full blood count and expert morphological assessment, serum ferritin, soluble transferrin receptor assay (sTfR), B12, folate and coeliac antibodies. Blood samples were also assayed for thyroid function (T4, TSH), liver function, aminotransferase (AST) and gamma-glutamyl transferase (GGT). Results The overall prevalence (95% C.I.) of anaemia (Hb <13.5g/dl men and 11.3 g/dl women) was 4.6% (2.9%–6.4%) in men and 1.0% (0.2%–1.9%) in women. Iron deficiency (ferritin <17ng/ml men and <11ng/ml in women) was detected in 6.3% of participants (3.7% in males and 8.7% in females, p<0.001). Based on both low ferritin and raised sTfR (>21nmol/ml) only 2.3% were iron-deficient. 3.0% and 2.7% were found to have low levels of serum folate (<2.3ng/ml) and serum B12 (<120ng/l) respectively. Clinically significant macrocytosis (MCV>99fl) was detected in 8.4% of subjects. Strong, significant and independent associations with macrocytosis were observed for lower social status, current smoking status, moderate to heavy alcohol intake, elevated GGT levels, deficiency of folate and vitamin B12, hypothyroidism and coeliac disease. The population attributable fraction (PAF) for macrocytosis associated with elevated GGT (25.0%) and smoking (24.6%) was higher than for excess alcohol intake (6.3%), folate deficiency (10.5%) or vitamin B12 (3.4%). Conclusions Haematinic deficiency and macrocytosis are common in middle-aged/older adults in Ireland. Macrocytosis is more likely to be attributable to an elevated GGT and smoking than vitamin B12 or folate deficiency.
    • Haematuria: an imaging guide.

      Moloney, Fiachra; Murphy, Kevin P; Twomey, Maria; O'Connor, Owen J; Maher, Michael M; Department of Radiology, Cork University Hospital, Wilton, Cork, Ireland. (Hindawi Publishing Corporation, 2014)
      This paper discusses the current status of imaging in the investigation of patients with haematuria. The physician must rationalize imaging so that serious causes such as malignancy are promptly diagnosed while at the same time not exposing patients to unnecessary investigations. There is currently no universal agreement about the optimal imaging work up of haematuria. The choice of modality to image the urinary tract will depend on individual patient factors such as age, the presence of risk factors for malignancy, renal function, a history of calculus disease and pregnancy, and other factors, such as local policy and practice, cost effectiveness and availability of resources. The role of all modalities, including conventional radiography, intravenous urography/excretory urography, ultrasonography, retrograde pyelography, multidetector computed tomography urography (MDCTU), and magnetic resonance urography, is discussed. This paper highlights the pivotal role of MDCTU in the imaging of the patient with haematuria and discusses issues specific to this modality including protocol design, imaging of the urothelium, and radiation dose. Examination protocols should be tailored to the patient while all the while optimizing radiation dose.
    • Have we stopped looking for a red reflex in newborn screening?

      Sotomi, O; Ryan, C A; O'Connor, G; Murphy, B P; Unified Maternity and Neonatal Services, and Department of Paediatrics & Child, Health, Cork University Hospital. (2012-02-03)
      Best medical evidence indicates that surgical treatment of significant congenital cataracts is required within the first 3 months of life for optimal visual outcome. The aim of the present study was to review when the diagnosis of congenital cataracts was made in our region, by whom it was made, and the visual outcome at 2 years of age or more. This was a retrospective study in a region with a population of 546,000 and approximately 8500 births per annum, served by a single Regional Ophthalmology centre. All children under 15 years, diagnosed with Congenital Cataract over a 10-year period (1991-2002), were identified using the Hospital In-Patient Enquiry [HIPE] database. Children with cataract(s) from infancy from a congenital cause and those first presenting outside infancy but with salient clinical features indicating early cataract were included in the study. 27 cases of congenital and infantile cataract 15 (56%) males, 12 (44%) females were retrieved. 17 infants (63%) were diagnosed with bilateral disease, while the remainder were unilateral 10 (37%). Most of the cases 17 (63%) were diagnosed following presentation with parental/carer concerns about visual function (usually a squint). However only 2 of these 17 cases presented before 3 months of age. The remaining cases of congenital cataracts were diagnosed by general practitioners 8 (24%), paediatricians 4 (12%), ophthalmologists 3 (9%) or School Medical Officer (1, 3%). No case of congenital cataract was diagnosed by newborn screening examination. Six of 8 infants diagnosed with congenital cataracts before three months of age had a good visual outcome, (visual acuity < 6/24 at 2 years or more). In contrast only 3 of 19 cases who were diagnosed after 3 months of age had good visual outcomes. Despite their relative rarity, it is imperative that congenital cataracts are diagnosed and treated within 3 months of birth. The onus of diagnosis rests with newborn screening examiners at birth and with general practitioners at the 6-8 week checks. Parental concerns about a possible squint should be addressed by performing a red light reflex examination and urgent specialist ophthalmological referral if a flaw is detected.
    • Health-related quality of life in patients with skull base tumours.

      Kelleher, M O; Fernandes, M F; Sim, D W; O'Sullivan, M G; Department of Neurosurgery, Cork University Hospital, Cork, Eire, UK. (2012-02-03)
      The objective of the investigation was to report on the health-related quality of life (HRQoL) of patients diagnosed with skull base tumours using the Short Form Health Survey questionnaire (SF-36). Those patients suffering with vestibular schwannoma were examined to determine the effect facial nerve function had on their quality of life. It took place at the tertiary referral centre at the Department of Clinical Neurosciences, Western General Hospital, Edinburgh. A prospective study of 70 consecutive patients was taken, who harboured the following tumours: 54 vestibular schwannomas, 13 meningiomas, two haemangioblastomas and one hypoglossal schwannoma. Patients were interviewed using the short form 36 (SF-36) questionnaire. Facial nerve function was assessed in those patients who had vestibular schwannomas. The entire cohort of live skull base patients were assessed after a median follow-up time of 38.4 months. Patients with vestibular schwannoma treated conservatively with interval MRI had a quality of life similar to t he normal population. Those who underwent surgery had a significant difference in two of the SF-36 domains. No statistically significant correlation was found at final assessment between the degree of facial nerve functioning and any of the domains of SF-36. Patients with non-vestibular tumours had an impaired HRQoL in seven of the eight domains. Patients with skull base tumours have a significant impairment of their HRQoL. A conservative policy of follow up with interval MRI for patients with small vestibular schwannomas may therefore be more appropriate to preserve their HRQoL. Facial nerve outcome has little influence on quality of life in vestibular schwannoma patients.