Accessibility
Legal Notices
Text Version

Irish Child Health Database - Peer Reviewed Papers

Database Search

How to use this database.

• Method 1- uses a free natural language approach.

  After choosing the object of the search – by ticking title, abstract, aims and objective, or author - enter a term, word or name in the ‘Search’ box to return references answering your research question.

• Method 2 - utilises key words.

  Those key words assigned from thesauruses of controlled vocabulary by the trained coders of international bibliographic databases.
  The controlled vocabularies key word are listed alphanumerically under 'Bibliographic database keywords' .
  Use the drop down menu to identity which 'key words' you are interested in to return references to answer your research question.

• Method 3 - is based on the indexing system

  developed by the researchers who compiled this database.
  It adopts a thematic approach to mapping Irish child health research. The themed areas represent outcomes mapped to the International Classification of Disease version 10 (ICD-10) or one of 23 other health-related themed outcomes. Themes are defined in Tables 5 to 7 (of the study report).
  Use the alphabetic drop down menu under ‘ICD-10 or themed health-related outcomes’ to identity which themed areas you are interested in to select references to answer your research question.

• Method 4 – allows papers to be searched by Study type.

  Indexing by study type offers a valuable insight into understanding the population impact of the topic of interest. More than 20 study types were identified across the 2,152 study papers. These are defined in Table 3 (of the study report). Within 'Study type' papers are further stratification by geographical region (Table 49), topic area of interest and study aims and objectives.
  Click on 'Study type' to select the type of study of interest, progressively select sub-categories by topic area or other sub-classification of interest to answer your research question.

The complete background, methods and findings from this mapping exercise are detailed in the study report.

Diagnosis, Differential

Your search returns 41 documents

• 1.   A difficult diagnosis in a pale child

  This article discusses a difficult diagnosis in a pale child

  

  Geography:

  Northern Ireland

  Ann Allergy Asthma Immunol, Vol: 91 Page: 16-9 July 2003
  A. J. Thompson; A. J. Reid; D. O'Donoghue; H. J. Steen; M. D. Shields

  [Preview] [Read]

• 2.   Abdominal pain in a 9-year-old: omental torsion masquerading as appendicitis

  This case report discusses abdominal pain in a 9-year-old: omental torsion masquerading as appendicitis

  

  International Classification:

  Diseases of the digestive system - Report

  Categories:

  omental torsion

  Geography:

  Republic of Ireland

  Br J Hosp Med (Lond), Vol: 69 Page: 47 January 2008
  Jr. M. S. Floyd; B. J. Kelly; P. Udani; N. O'Donnell; P. Morrison

  [Preview] [Read]

• 3.   Ameloblastic fibroma of the anterior maxilla presenting as a complication of tooth eruption: a case report

  This case report discusses a case of ameloblastic fibroma of the anterior maxilla presenting as a complication of tooth eruption

  

  Abstract:

  Ameloblastic fibroma is a rare mixed odontogenic tumour, which is extremely uncommon in the anterior maxillary region. A case report is presented where failure of eruption of an upper central incisor was the presenting feature. more...

  International Classification:

  Neoplasm - Report

  Categories:

  ameloblastic fibroma

  Geography:

  Republic of Ireland

  J Orthod, Vol: 28 Page: 115-8 June 2001
  N. J. McGuinness; T. Faughnan; F. Bennani; C. E. Connolly

  [Preview] [Read]

• 4.   Aneursymal bone cyst of the proximal phalanx of the thumb in a child

  This case report discusses a case of aneursymal bone cyst of the proximal phalanx of the thumb in a child

  

  Abstract:

  Aneursymal Bone Cysts (ABCs) involving the hand are a rare occurrence. We report a case of an ABC of the proximal phalanx of the thumb in a boy which was treated successfully with curettage and autologous bone grafting. When the diagnosis of ABC of the small bones of the hand is entertained, prompt therapeutic intervention is indicated because of the potential for aggressive local more...

  International Classification:

  Diseases of the musculoskeletal system and connective tissue - Report

  Categories:

  aneursymal bone cyst

  Geography:

  Republic of Ireland

  Hand Surg, Vol: 7 Page: 147-50 July 2002
  J. A. Sproule; E. Salmo; G. Mortimer; M. O'Sullivan

  [Preview] [Read]

• 5.   Atypical Mycobacterial infections in children: the case for early diagnosis

  This case report discusses a case of atypical case of Mycobacteria

  

  Abstract:

  BACKGROUND & AIMS: Atypical Mycobacteria (ATB) are a miscellaneous collection of Mycobacteriaceae which also includes M. tuberculosis, M. bovis and M. leprae. In the paediatric population, ATB infections present with non-tender unilateral lymphadenopathy in a systemically well child. Initially the disease may be mistaken for a staphylococcal or streptococcal abscess. Inappropriate more...

  International Classification:

  Certain infectious and parasitic diseases - Report

  Categories:

  mycobacterial

  Geography:

  Northern Ireland

  Ulster Med J, Vol: 75 Page: 192-4 September 2006
  S. Thavagnanam; L. M. McLoughlin; C. Hill; P. T. Jackson

  [Preview] [Read]

• 6.   Bilateral subdural collections--an unusual feature of possible Kawasaki disease

  This case report discusses a case of possible Kawasaki disease which presented with bilateral subdural collections

  

  Abstract:

  A case of possible Kawasaki disease presenting with bilateral subdural collections is reported. A 6-month-old boy was admitted to hospital following a prolonged partial seizure. He showed signs of worsening encephalopathy and was treated for presumed infective meningoencephalitis. Imaging revealed bilateral subdural collections. Pyrexia and irritability continued despite appropriate more...

  International Classification:

  Syndrome

  Categories:

  Kawasaki syndrome

  Geography:

  Republic of Ireland

  Eur J Paediatr Neurol, Vol: 5 Page: 79-81 2001
  N. M. Bailie; O. J. Hensey; S. Ryan; D. Allcut; M. D. King

  [Preview] [Read]

• 7.   Calcinosis associated with dermatomyositis

  This case report discusses calcinosis associated with dermatomyositis

  

  International Classification:

  Diseases of the skin and subcutaneous tissue - Report

  Categories:

  dermatomyositis

  Geography:

  Republic of Ireland

  Jbr-Btr, Vol: 91 Page: 27 2008 Jan-Feb
  J. O'Brien; J. Kelleher

  [Preview] [Read]

• 8.   Can classic metaphyseal lesions follow uncomplicated caesarean section?

  This case report discusses how the classic metaphyseal lesion may occur following simple lower segment caesarean section

  

  Abstract:

  BACKGROUND: Classic metaphyseal lesion (CML) is the term given to a fracture that most often occurs in the posteromedial aspect of the distal femur, proximal tibia, distal tibia, and proximal humerus in infants; this finding is strongly associated with non-accidental injury. OBJECTIVE: To demonstrate that the CML may occur following simple lower segment caesarean section (LSCS). more...

  International Classification:

  Pregnancy, childbirth and the puerperium

  Categories:

  metaphyseal lesion

  Geography:

  Republic of Ireland

  Pediatr Radiol, Vol: 37 Page: 488-91 May 2007
  A. O'Connell; V. B. Donoghue

  [Preview] [Read]

• 9.   Cherubism and its charlatans

  This case report discusses a case of clinical characteristics of cherubism and their variable expression in addition to distinguishing cherubism from central giant cell granuloma and giant cell tumour of the jaws, with which it holds a false synonymity

  

  Abstract:

  Cherubism is a rare hereditary condition characterised by progressive cystic proliferation of the mandible and maxilla in childhood, followed by post-pubertal involution of the process and jaw remodelling in adulthood. Its name is derived from the cherubic appearance that results from the jaw hypertrophy. Here, we present the case of a young boy with cherubism, in the context of his more...

  International Classification:

  Diseases of the digestive system - Report

  Categories:

  cherubism

  Geography:

  Republic of Ireland

  Br J Plast Surg, Vol: 54 Page: 708-11 December 2001
  D. A. Lannon; M. J. Earley

  [Preview] [Read]

• 10.   Chondro-osseous respiratory epithelial adenomatoid hamartoma of the nasal cavity: a case report

  This case report discusses a case arising in an 11-year-old male patient, who presented with a 6-month history of right-sided nasal obstruction

  

  Abstract:

  Chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH) of the nasal cavity is an exceedingly rare benign lesion of the nasal cavity. We report a case arising in an 11-year-old male patient, who presented with a 6-month history of right-sided nasal obstruction. Examination revealed a large fleshy, tender polyp in the right nasal cavity. Computed tomography (CT) and more...

  International Classification:

  Diseases of the respiratory system - Report

  Categories:

  nasal obstruction

  Geography:

  Republic of Ireland

  Int J Pediatr Otorhinolaryngol, Vol: 69 Page: 87-91 January 2005
  R. Flavin; J. Russell; E. Phelan; M. B. McDermott

  [Preview] [Read]

• 11.   Chronic cough in children: bronchoalveolar lavage findings

  The aim of this study was to examine children with isolated chronic cough looking for evidence of airway inflammation typical of asthma, with increased numbers of airway eosinophils as assessed from bronchoalveolar lavage (BAL)

  

  Abstract:

  Isolated chronic cough in childhood is a common complaint. Although the symptom cough is included in the definition of clildhood asthma, there is debate as to whether the majoritv of these children have asthma. The authors studied children with isolated chronic cough looking for evidence of airway inflammation typical of asthma, with increased numbers of airway eosinophils as assessed more...

  International Classification:

  Diseases of the respiratory system - Chronic lower respiratory diseases - asthma

  Categories:

  isolated chronic cough; asthma

  Geography:

  Northern Ireland

  Eur Respir J, Vol: 16 Page: 1109-14 December 2000
  P. S. Fitch; V. Brown; B. C. Schock; R. Taylor; M. Ennis; M. D. Shields

  [Preview] [Read]

• 12.   Cryptogenic, multifocal, ulcerous, and stenosing enteritis as a manifestation of enterocolic venopathy

  This case report discusses cryptogenic, multifocal, ulcerous, and stenosing enteritis as a manifestation of enterocolic venopathy

  

  International Classification:

  Other - enterocolic venopathy

  Categories:

  enterocolic venopathy

  Geography:

  Republic of Ireland

  J Pediatr Gastroenterol Nutr, Vol: 47 Page: 107-9 July 2008
  S. Hussey; B. Bourke; A. Broderick; E. Phelan; M. McDermott

  [Preview] [Read]

• 13.   Diagnosis and management of type 1 laryngeal cleft

  This study demonstrated that type 1 posterior laryngeal clefts are more common than previously described, by reporting a series of 12 type 1 posterior laryngeal clefts diagnosed at our institution over a 12-month period

  

  Abstract:

  Posterior laryngeal clefts have been reported as exceptionally rare congenital anomalies. We demonstrate that type 1 posterior laryngeal clefts are more common than previously described, by reporting a series of 12 type 1 posterior laryngeal clefts diagnosed at our institution over a 12-month period. Typically, type 1 posterior laryngeal clefts are managed conservatively. In our series, more...

  International Classification:

  Other - laryngeal clefts

  Categories:

  posterior laryngeal clefts

  Geography:

  Republic of Ireland

  Int J Pediatr Otorhinolaryngol, Vol: 67 Page: 591-6 June 2003
  K. Watters; J. Russell

  [Preview] [Read]

• 14.   Do the Rome criteria help the doctor or the patient?

  This article discusses if the Rome criteria help the doctor or the patient?

  

  Geography:

  Republic of Ireland

  J Pediatr Gastroenterol Nutr, Vol: 41 Suppl 1 Page: S32-3 September 2005
  M. Rowland; B. Bourke; B. Drumm

  [Preview] [Read]

• 15.   Duplication of the optic disc: true or pseudo? A coloboma or not a coloboma?

  This case report discusses an unusual case of optic disc pseudoduplication with colobomata

  

  Abstract:

  PURPOSE: To present an unusual case of optic disc pseudoduplication with colobomata. METHODS: Clinical evaluation, fundus photography and literature review. RESULTS: Optic disc duplication is a rare clinical entity. CONCLUSIONS: We report what we believe to be the first case of pseudoduplication of the optic disc with coexistent bilateral optic disc colobomata. more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Report

  Categories:

  pseudoduplication with colobomata

  Geography:

  Northern Ireland

  Eur J Ophthalmol, Vol: 14 Page: 163-5 2004 Mar-Apr
  E. M. McLoone; T. A. Buchanan

  [Preview] [Read]

• 16.   Exclusion of androgen insensitivity syndrome in girls with inguinal hernias: current surgical practice

  This study aimed to explore the current surgical practice of exclusion of androgen insensitivity syndrome in girls with inguinal hernias

  

  Abstract:

  To review the current approach of paediatric surgeons to the exclusion of androgen insensitivity syndrome (CAIS) in girls with inguinal hernias (IH), a questionnaire was sent to all specialist paediatric surgeons in the United Kingdom and Ireland asking if they exclude CAIS, how they exclude it, and what they say to parents preoperatively. In all, 32 surgeons responded (29%); 41% made more...

  International Classification:

  Practice/knowledge - androgen insensitivity syndrome inguinal hernias

  Categories:

  surgical practice - androgen insensitivity syndrome inguinal hernias

  Geography:

  Republic of Ireland and the United Kingdom

  Pediatr Surg Int, Vol: 18 Page: 701-3 December 2002
  D. M. Burge; I. S. Sugarman

  [Preview] [Read]

• 17.   Focally enhanced gastritis in children with Crohn's disease and ulcerative colitis

  This study aimed to evaluate the occurrence of focally enhance & other gastric histological abnormalities in children with inflammatory bowel disease and examine the utility of focally enhanced gastritis in determining ulcerative colitis orCrohn's disease

  

  Abstract:

  OBJECTIVES: Focally enhanced gastritis (FEG) has been suggested as a specific diagnostic marker for patients with Crohn's disease. However, the utility of FEG for distinguishing Crohn's disease from ulcerative colitis is uncertain in adults, and the occurrence of this lesion in children has not been defined. The aim of this study was to evaluate the occurrence of FEG and other gastric more...

  International Classification:

  Diseases of the digestive system - Noninfective enteritis and colitis - ulcerative colitis & Crohn's disease

  Categories:

  focally enhanced gastritis; ulcerative colitis; -ulcerative colitis & Crohn's disease

  Geography:

  Republic of Ireland

  Am J Gastroenterol, Vol: 97 Page: 1415-20 June 2002
  F. Sharif; M. McDermott; M. Dillon; B. Drumm; M. Rowland; C. Imrie; S. Kelleher; S. Harty; B. Bourke

  [Preview] [Read]

• 18.   Giant left atrial appendage with a common ventricular-appendicular wall and an abnormal course of the circumflex coronary artery in an asymptomatic 18-month-old girl

  This case report discuss giant left atrial appendage with a common ventricular-appendicular wall and an abnormal course of the circumflex coronary artery in an asymptomatic 18-month-old girl

  

  Abstract:

  We present a congenital giant left atrial appendage in an asymptomatic 18-month-old girl featuring two morphological aspects not yet described, namely, a common wall between the giant left atrial appendage and the left ventricle and an abnormal course of the circumflex coronary artery across the surface of the grossly dilated left atrial appendage which prohibited its radical resection. more...

  International Classification:

  Diseases of the circulatory system - Report

  Categories:

  coronary artery

  Geography:

  Republic of Ireland

  Pediatr Cardiol, Vol: 29 Page: 431-3 March 2008
  A. Dumitrescu; K. P. Walsh; A. E. Wood

  [Preview] [Read]

• 19.   Hair-thread tourniquet syndrome in an infant with bony erosion: a case report, literature review, and meta-analysis

  This case report discusses the case of a 3-month-old baby girl with hair-thread tourniquet syndrome in whom a hair cheese-wired through the skin and soft tissue of the toe and caused bony erosion of the underlying phalanx

  

  Abstract:

  Hair-thread tourniquet syndrome is a rare condition where appendages are strangulated by an encircling strand of hair, a thread, or a fiber. The condition usually occurs in very young patients in the first few months of life. We present a unique case of a 3-month-old baby girl with hair-thread tourniquet syndrome in whom a hair cheese-wired through the skin and soft tissue of the toe more...

  International Classification:

  Syndrome

  Categories:

  hair-thread tourniquet syndrome

  Geography:

  Republic of Ireland

  Ann Plast Surg, Vol: 57 Page: 447-52 October 2006
  A. Z. Mat Saad; E. M. Purcell; J. J. McCann

  [Preview] [Read]

• 20.   Hangman's fracture caused by suspected child abuse. A case report

  This case report discusses a case of traumatic Hangman's fracture in a child under the age of 3 years and the only case where there is a strong probability of child abuse

  

  Abstract:

  This report highlights the difficulties associated with diagnosing cervical spine injuries in children especially as the history and mechanism of injury may often be unclear and the normal variations in roentgenographic appearance may be confusing. As far as we are aware this is only the second case of traumatic Hangman's fracture in a child under the age of 3 years and the only case more...

  International Classification:

  Diseases of the musculoskeletal system and connective tissue - Report

  Categories:

  Hangman's fracture

  Geography:

  Republic of Ireland

  J Pediatr Orthop B, Vol: 11 Page: 329-32 October 2002
  R. K. Ranjith; J. H. Mullett; T. E. Burke

  [Preview] [Read]

• 21.   HLA class II haplotype and autoantibody associations in children with juvenile dermatomyositis and juvenile dermatomyositis-scleroderma overlap

  The aim of this study was to investigate a large cohort of children with juvenile dermatomyositis, and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization.

  

  Abstract:

  OBJECTIVES: To investigate a large cohort of children with juvenile dermatomyositis (JDM), and those with JDM-scleroderma (JDM-SSc) overlap, using detailed serological analysis, HLA class II genotyping and clinical characterization. METHODS: Children (114) with JDM were recruited, and clinical data collected, through the JDM National Registry and Repository (UK and Ireland). Sera were more...

  International Classification:

  Diseases of the musculoskeletal system and connective tissue - Systemic connective tissue disorders - dermatomyositis

  Categories:

  HLA class II genotyping; juvenile dermatomyositis

  Geography:

  Republic of Ireland and the United Kingdom

  Rheumatology (Oxford), Vol: 46 Page: 1786-91 December 2007
  L. R. Wedderburn; N. J. McHugh; H. Chinoy; R. G. Cooper; F. Salway; W. E. Ollier; L. J. McCann; H. Varsani; J. Dunphy; J. North; J. E. Davidson

  [Preview] [Read]

• 22.   Interferon-gamma receptor deficiency mimicking Langerhans' cell histiocytosis

  This case report discusses two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified

  

  Abstract:

  Two patients who were initially given a diagnosis of Langerhans' cell histiocytosis on the basis of the clinical, radiologic, and biopsy findings had mycobacterial infection subsequently identified. The correct diagnosis of dominant partial interferon-gamma receptor deficiency was established. more...

  International Classification:

  Endocrine, nutritional and metabolic diseases-Report

  Categories:

  Langerhans' cell histiocytosis

  Geography:

  Northern Ireland

  J Pediatr, Vol: 139 Page: 600-3 October 2001
  J. D. Edgar; A. E. Smyth; J. Pritchard; D. Lammas; E. Jouanguy; R. Hague; V. Novelli; S. Dempsey; L. Sweeney; A. J. Taggart; D. O'Hara; J. L. Casanova; D. S. Kumararatne

  [Preview] [Read]

• 23.   Investigating painless rectal bleeding--is there scope for improvement?

  This study examined the diagnostic yield of limited colorectal endoscopy with total colonoscopy in children with recurrent painless rectal bleeding

  

  Abstract:

  INTRODUCTION: Most patients with recurrent painless rectal bleeding warrant endoscopic examination of the lower gastrointestinal tract. This is often limited to rectum or distal colon. The purpose of this study was to compare the diagnostic yield of limited colorectal endoscopy with total colonoscopy in children with recurrent painless rectal bleeding. METHODS: Retrospective review of more...

  International Classification:

  Diagnostic tool (endoscopy) - rectal bleeding

  Categories:

  limited colorectal endoscopy; otal colonoscopy

  Geography:

  Northern Ireland

  J Pediatr Surg, Vol: 40 Page: 1920-2 December 2005
  G. Clarke; A. Robb; I. Sugarman; W. A. McCallion

  [Preview] [Read]

• 24.   Job syndrome masquerading as non-accidental injury

  This case report discusses a case of Job syndrome masquerading as a non-accidental injury

  

  Abstract:

  Awareness of the rare condition of Job syndrome is low among both paediatricians and geneticists. Consequently, observation of the recurrent fractures in the majority of such cases can result in misdiagnosis of non-accidental injury in young children who have the syndrome. The case we report here represents an example of this diagnostic pitfall, which deserves wide recognition due to more...

  International Classification:

  Syndrome

  Categories:

  Job syndrome

  Geography:

  Republic of Ireland

  Arch Dis Child, Vol: 93 Page: 65-7 January 2008
  J. Walsh; W. Reardon

  [Preview] [Read]

• 25.   Juvenile myoclonic epilepsy: under-appreciated and under-diagnosed

  This article discusses juvenile myoclonic epilepsy

  

  Abstract:

  Juvenile myoclonic epilepsy (JME) is a hereditary, idiopathic, generalised epilepsy and is found in 5%-11% of patients with epilepsy. It is characterised by myoclonic jerks, occasional generalised tonic-clonic seizures, and sometimes absence seizures. JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with more...

  Geography:

  Republic of Ireland

  Postgrad Med J, Vol: 79 Page: 78-80 February 2003
  R. Renganathan; N. Delanty

  [Preview] [Read]

• 26.   Left atrial appendage mimicking an intra-cardiac vegetation in preterm neonates

  These case reports discuss 2 cases of the left atrial appendage rarely mimicking a posterior mitral valve leaflet vegetation, leading to an erroneous diagnosis of infective endocarditis

  

  Abstract:

  Infective endocarditis is emerging as a significant cause of morbidity in the neonatal intensive care with an incidence ranging from 0.07 to 4.3%. The rise in incidence may be explained by the increasing availability of echocardiography facilities in the neonatal unit. The diagnosis of infective endocarditis has major therapeutic implications as the neonate is treated with potentially more...

  International Classification:

  Diseases of the circulatory system - Report

  Categories:

  left atrial appendage

  Geography:

  Republic of Ireland

  Neonatology, Vol: 93 Page: 113-6 2008
  A. F. El-Khuffash; E. J. Molloy; K. Walsh

  [Preview] [Read]

• 27.   Mesenteric cysts--a series of six cases with a review of the literature

  The aim of this study was to examine presentation, management and histological findings of cases of symptomatic mesenteric cysts that presented to a hospital

  

  Abstract:

  BACKGROUND: Symptomatic mesenteric cysts account for only 1 in 100,000 acute adult and 1 in 20,000 acute paediatric admissions. Acute symptoms are related to compression of intra-abdominal organs or stretching of the mesentery by rapid expansion. An abdominal mass, mobile in transverse but not longitudinal plane, is often the only physical finding. METHOD: We outline the presentation, more...

  International Classification:

  Other - mesenteric cysts

  Categories:

  mesenteric cysts

  Geography:

  Republic of Ireland

  Ir J Med Sci, Vol: 168 Page: 233-6 1999 Oct-Dec
  M. F. O'Brien; D. C. Winter; G. Lee; E. J. Fitzgerald; G. C. O'Sullivan

  [Preview] [Read]

• 28.   Mucinous cystadenoma of the ovary in perimenarchal girls

  This study presented six cases of mucinous tumours of the ovary in perimenarchal girls

  

  Abstract:

  Ovarian masses in children are an uncommon occurrence. They represent less than 2% of all tumours in girls less than 16 years of age. Mucinous tumours of the ovary occur principally in middle adult life and are extremely rare prior to menarche. To the best of our knowledge, there are only 13 previous cases of benign mucinous cystadenoma (MCA) of the ovary in perimenarchal girls reported more...

  International Classification:

  Other - tumours of the ovary-condiction

  Categories:

  mucinous tumours of the ovary

  Geography:

  Republic of Ireland

  Pediatr Surg Int, Vol: 22 Page: 224-7 March 2006
  T. Sri Paran; A. Mortell; D. Devaney; A. Pinter; P. Puri

  [Preview] [Read]

• 29.   Neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

  This case report discusses a case of neonatal seizures and limb malformations associated with liver-specific complex IV respiratory chain deficiency

  

  Abstract:

  An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the more...

  International Classification:

  Other - complex IV respiratory chain deficiency

  Categories:

  liver-specific complex IV respiratory chain deficiency

  Geography:

  Republic of Ireland

  Eur J Paediatr Neurol, Vol: 8 Page: 55-9 2004
  M. A. Kurian; E. S. O'Mahoney; P. Rustin; G. Brown; E. P. Treacy; M. D. King

  [Preview] [Read]

• 30.   Neuroimaging findings in glutaric aciduria type 1

  This study reviewed the imaging features of glutaric aciduria type 1, and to document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported

  

  Abstract:

  OBJECTIVE: To review the imaging features of glutaric aciduria type 1 (GA-1) in a group of 20 patients, the largest published series to date. To document the findings not previously reported and compare our findings with the imaging characteristics of GA-1 previously reported in the literature. MATERIALS AND METHODS: For 14 patients the original scans were examined and in the remaining more...

  International Classification:

  Diseases of the digestive system - Diseases of appendix - appendicoliths

  Categories:

  glutaric aciduria type 1

  Geography:

  Republic of Ireland

  Pediatr Radiol, Vol: 33 Page: 823-30 December 2003
  E. L. Twomey; E. R. Naughten; V. B. Donoghue; S. Ryan

  [Preview] [Read]

• 31.   Ocular findings in glutaric aciduria type 1

  This study determines the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1).

  

  Abstract:

  PURPOSE: To determine the nature and course of ocular abnormalities in glutaric aciduria (acidemia) type 1 (GA1). METHODS: Fifteen children with GA1 have been studied in the Republic of Ireland. A retrospective review of the records of the 6 children who died during their illness and prospective clinical examination of 9 survivors were performed. RESULTS: Seven of the 15 children had more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Metabolic disorders - glutaric aciduria type 1

  Categories:

  ocular abnormalities in glutaric aciduria

  Geography:

  Republic of Ireland

  J Pediatr Ophthalmol Strabismus, Vol: 37 Page: 289-93 2000 Sep-Oct
  N. A. Kafil-Hussain; A. Monavari; R. Bowell; P. Thornton; E. Naughten; M. O'Keefe

  [Preview] [Read]

• 32.   Osteomyelitis of the ischiopubic synchondrosis: imaging findings

  These case reports discuss two cases of osteomyelitis of the ischiopubic synchondrosis and describe findings on radiographs, isotope bone scan, computed tomograph and magnetic resonance imaging

  

  Abstract:

  Osteomyelitis of the ischiopubic synchondrosis in children is not rare and presents a diagnostic problem because of the diversity of presentation and the deceptive nature of symptoms. Radiological assessment is extremely difficult because of the variation in normal ossification on radiography and normal physiological uptake on radioisotope bone scan. We present two cases of more...

  International Classification:

  Diseases of the musculoskeletal system and connective tissue - Report

  Categories:

  osteomyelitis

  Geography:

  Republic of Ireland

  Skeletal Radiol, Vol: 33 Page: 176-80 March 2004
  A. Iqbal; D. McKenna; R. Hayes; D. O'Keeffe

  [Preview] [Read]

• 33.   Penile malignant peripheral nerve sheath tumour (schwannoma) in a three-year-old child without evidence of neurofibromatosis

  This case report discusses penile malignant peripheral nerve sheath tumour (schwannoma) in a three-year-old child without evidence of neurofibromatosis

  

  Abstract:

  Malignant schwannoma (malignant peripheral nerve sheath tumour, MPNST) is a rare high-grade tumour arising from peripheral nerves. We report the case of a 3-year-old male who presented with a non-tender lesion on the dorsum of his penis. The lesion was excised and a formal circumcision performed. Histology of the lesion revealed a spindle cell tumour. Immunohistochemistry showed the more...

  International Classification:

  ICD-O: 9540/3 - Penile malignant peripheral nerve sheath tumour Neurofibrosarcoma ICD-O: 9540/3

  Categories:

  schwannoma (penile malignant peripheral nerve sheath tumour)

  Geography:

  Republic of Ireland

  Eur J Pediatr Surg, Vol: 17 Page: 428-30 December 2007
  A. Mortell; B. Amjad; F. Breatnach; D. Devaney; P. Puri

  [Preview] [Read]

• 34.   Pepsin in bronchoalveolar lavage fluid: a specific and sensitive method of diagnosing gastro-oesophageal reflux-related pulmonary aspiration

  The aim of this study was to describe the development and validation of an assay to detect gastric pepsin in the bronchoalveolar lavage of children

  

  Abstract:

  OBJECTIVES: Gastro-oesophageal reflux (GOR)-related aspiration is associated with respiratory disease, but the current "gold standard" investigation, the lipid-laden macrophage index (LLMI), is flawed. A specific marker of GOR-related aspiration should originate in the stomach, but not the lung. An assay to detect gastric pepsin in the bronchoalveolar lavage (BAL) of children more...

  International Classification:

  Other - gastric pepsin

  Categories:

  gastric pepsin; bronchoalveolar lavage

  Geography:

  Northern Ireland

  J Pediatr Surg, Vol: 41 Page: 289-93 February 2006
  S. Farrell; C. McMaster; D. Gibson; M. D. Shields; W. A. McCallion

  [Preview] [Read]

• 35.   Polyuria, polydipsia, polypopsia: "Mummy I want a drink"

  These case reports discuss three children with symptoms of polyuria, polydipsia, polypopsia

  

  International Classification:

  Endocrine, nutritional and metabolic diseases-Report

  Categories:

  polyuria, polydipsia, polypopsia

  Geography:

  Republic of Ireland

  Arch Dis Child Educ Pract Ed, Vol: 92 Page: ep139-43 October 2007
  M. Carr; D. Gill

  [Preview] [Read]

• 36.   Referral biases and diagnostic dilemmas

  This article discusses some of the referral biases observed in clinical practice and discuss the implications of mis-diagnosis in routine Child and Adolescent Mental Health Services

  

  Geography:

  Republic of Ireland

  Attach Hum Dev, Vol: 5 Page: 249-52 September 2003
  J. G. Byrne

  [Preview] [Read]

• 37.   Rising incidence of type 2 diabetes in children in the U.K

  The aim of this study was to examine the incidence of type 2 diabetes in children <17 years of age and to investigate the relationship of diabetes with increasing childhood obesity in the U.K. and the Republic of Ireland (ROI)

  

  Abstract:

  OBJECTIVE: To estimate the incidence of type 2 diabetes in children <17 years of age and to investigate the relationship of diabetes with increasing childhood obesity in the U.K. and the Republic of Ireland (ROI). RESEARCH DESIGN AND METHODS: Active monthly reporting of cases by consultant pediatricians occurred through the framework of the British Pediatric Surveillance Unit, with more...

  International Classification:

  Endocrine, nutritional and metabolic diseases - Diabetes mellitus - type 2 diabetes mellitus

  Categories:

  type 2 diabetes; type 2 diabetes; obesity

  Geography:

  Republic of Ireland and the United Kingdom

  Diabetes Care, Vol: 30 Page: 1097-101 May 2007
  L. Haines; K. C. Wan; R. Lynn; T. G. Barrett; J. P. Shield

  [Preview] [Read]

• 38.   Symptomatic Meckel's diverticulum in children: a 16-year review

  This study examined 16 years of children with Symptomatic Meckel's diverticulum

  

  Abstract:

  Meckel's diverticulum (MD) has varied presentations and often becomes a diagnostic challenge. The purpose of this study was to review the various presentations of symptomatic MD and to assess the sensitivity of the Meckel's scan as a diagnostic tool in patients with bleeding MD. The hospital records of 71 consecutive patients with a diagnosis of MD from 1990 to 2005 were retrospectively more...

  International Classification:

  Congenital malformations, deformations and chromosomal abnormalities - Other congenital malformations of the digestive system - Symptomatic Meckel's diverticulum

  Categories:

  symptomatic Meckel's diverticulum

  Geography:

  Republic of Ireland

  Pediatr Surg Int, Vol: 24 Page: 575-7 May 2008
  M. Menezes; F. Tareen; A. Saeed; N. Khan; P. Puri

  [Preview] [Read]

• 39.   Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland

  The aim of this study was to examine the prevalence of tuberous sclerosis complex, the clinical features attributed to it, and the availability of mutational analysis

  

  Abstract:

  Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 and TSC2 genes on chromosomes 9 and 16 respectively. Diagnosis is based on clinical features but can be difficult as a result of variable phenotypic expression. With the advantage of mutation analysis in making a diagnosis of TSC, and improved identification of the associated clinical more...

  International Classification:

  Certain infectious and parasitic diseases - Tuberculosis - tuberculosis

  Categories:

  Tuberous sclerosis complex

  Geography:

  Northern Ireland

  Developmental Medicine & Child Neurology, Vol: 48 Page: 495-499 2006
  L. A. Devlin; C. H. Shepherd; H. Crawford; P. Morrison

  [Preview] [Read]

• 40.   Urinary tract infection: an update on imaging strategies

  This article discusses reviews the role of radiology in urinary tract infections

  

  Abstract:

  Urinary tract infections (UTIs) are a common cause of morbidity in children. The distinction between upper and lower tract UTI is clinically difficult but important, as permanent renal damage can occur when the UTI involves the kidneys. Children with a history of UTI need investigated promptly and thoroughly. The goal of imaging in UTI is to aid in the diagnosis of acute pyelonephritis, more...

  Geography:

  Northern Ireland

  Eur Radiol, Vol: 14 Suppl 4 Page: L89-100 March 2004
  A. Paterson

  [Preview] [Read]

• 41.   Variant Hirschsprung's disease

  This article discusses variant Hirschsprung's disease

  

  Abstract:

  Conditions that clinically resemble HD despite the presence of ganglion cells on suction rectal biopsy results, can be diagnosed by providing an adequate biopsy and employing a variety of histological techniques. Intestinal neuronal dysplasia is a distinct clinical entity that can be clearly proven histologically. Patients with IND not only have abnormalities of submucosal and myenteric more...

  Geography:

  Republic of Ireland

  Semin Pediatr Surg, Vol: 13 Page: 293-9 November 2004
  P. Puri; U. Rolle

  [Preview] [Read]