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Case Report Study
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This case report discusses a male child with attention deficit disorder with hyperactivity and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm
Abstract:
BACKGROUND: ADHD is a common, heritable disorder of childhood. Sex chromosome abnormalities are relatively rare conditions that are sometimes associated with behavioral disorders. METHOD: The authors present a male child with ADHD and a major de-novo Y chromosome abnormality consisting of deletion of the long arm and duplication of the short arm. It is possible that the Y chromosomal more...
International Classification:
Behavioural and emotional disorders with onset usually occurring in childhood and adolescence - Report
Categories:
attention-deficit hyperactivity disorder
Geography:
Republic of Ireland
J Atten Disord,
Vol: 12 Page: 103-5 July 2008
A. Mulligan; M. Gill; M. Fitzgerald
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This case report discusses a positive Mantoux test and a chest x-ray consistent with miliary tuberculosis.
Abstract:
A five-year old girl was referred, by the local area medical officer; as she had a positive Mantoux test and a chest x-ray consistent with miliary tuberculosis. She had initially been identified three months previously as a contact of a case of open pulmonary tuberculosis. A CT scan of the brain at the time of presentation showed multiple intracranial tuberculomae. A CT Brain scan three more...
International Classification:
Certain infectious and parasitic diseases - Report
Categories:
miliary tuberculosis
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 100 Page: 2007
R. J. Drew; A. Tarrant; M. Cafferkey; O. Hensey
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This case report discusses a case treatment - conventional ventilation - of a case of pneumomediastinum in paediatric acute respiratory distress syndrome
Abstract:
An 18-month-old was transferred (intubated and ventilated) to our hospital with staphylococcal tracheitis, which progressed to a necrotizing pneumonitis, complicated by surgical emphysema and pneumomediastinum. Maximum conventional ventilation on a Servo 300 failed. Treatment with high frequency oscillatory ventilation (for 10 days) with a permissive hypercarbia and hypoxaemia strategy more...
International Classification:
Syndrome
Categories:
Acute respiratory distress syndrome
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 11 Page: 366-9 May 2001
J. McGinley; T. Corcoran; G. Canny; B. O'Hare
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This case report discusses the diagnosis of a confused child - urinary tract infection, dilated urinary system and associated hyperammonaemic encephalopathy
International Classification:
Endocrine, nutritional and metabolic diseases-Report
Categories:
hyperammonaemic encephalopathy
Geography:
Republic of Ireland
Pediatr Nephrol,
Vol: 22 Page: 355-7 March 2007
E. Fitzpatrick; P. Mayne; D. Gill
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This case report discusses a eight year old child who developed subcutaneous emphysema, bilateral pneumothorax, pneumomediastinum and pneumoperitonium in recovery room after apparently uneventful general anaesthesia for eight primary teeth extractions
Abstract:
We report a case of eight year old child who developed severe subcutaneous emphysema, bilateral pneumothorax, pneumomediastinum and pneumoperitonium in recovery room after apparently uneventful general anaesthesia for eight primary teeth extractions. Causes and treatment of these complications are discussed. more...
International Classification:
Diseases of the respiratory system - Report
Categories:
subcutaneous emphysema, bilateral pneumothorax, pneumomediastinum and pneumoperitonium after anaesthesia
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 23 Page: 613-6 June 2007
D. Kumar; T. Farrell; E. Tierney
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These case reports two individual cases where spontaneous root fracture healing was observed and this healing was apparently not compromised by later orthodontic tooth movement
Abstract:
There is evidence that many dental injuries which result in root fractures may not require active treatment in cases where the coronal fragment is minimally displaced and does not exhibit clinical signs or symptoms. This paper discusses two individual cases where spontaneous root fracture healing was observed and this healing was apparently not compromised by later orthodontic tooth more...
International Classification:
Dental
Categories:
root (tooth) fracture
Geography:
Republic of Ireland
Dent Traumatol,
Vol: 24 Page: 231-4 April 2008
D. Duggan; F. Quinn; M. O'Sullivan
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This case report discusses a new technique for treatment of a non-union of a lateral humeral condyle
International Classification:
Diseases of the musculoskeletal system and connective tissue - Report
Categories:
lateral humeral condyle
Geography:
Republic of Ireland
Injury,
Vol: 31 Page: 557-9 September 2000
S. Morris; J. McKenna; N. Cassidy; M. Stephens
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This case report discusses the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava
Abstract:
This report describes the case of a child with Kabuki syndrome, hypoplastic left heart syndrome, and right-sided partial anomalous pulmonary venous drainage to the inferior vena cava. The child underwent successful Norwood and Glenn palliative procedures. At the age of 9 months, the genetic condition was recognized. This represents the first report describing this combination of more...
International Classification:
Syndrome
Categories:
Kabuki syndrome
Geography:
Republic of Ireland
Pediatr Cardiol,
Vol: 29 Page: 820-2 July 2008
R. Shahdadpuri; S. A. Lynch; H. Murchan; C. J. McMahon
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These case reports discuss a novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association
Abstract:
Mutations of the PTEN gene are associated with hamartoma-neoplasia syndromes. While germline mutations at this chromosome 10q22-23 locus have been observed in patients with Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), both of which phenotypes are associated with hamartomata and neoplasia, somatic mutation of PTEN has been established in a wide variety of more...
International Classification:
Syndrome V.A.T.E.R. syndrome Vertebrae, Anus, Trachea, Esophagus, and Renal
Categories:
V.A.T.E.R. syndrome - abnormalities: Vertebrae, Anus, Trachea, Esophagus, and Renal
Geography:
Republic of Ireland
J Med Genet,
Vol: 38 Page: 820-3 December 2001
W. Reardon; X. P. Zhou; C. Eng
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This case report discusses recurrent splice-site mutation in the human hairless gene underlies congenital atrichia in Irish families
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital atrichia
Geography:
Republic of Ireland
Br J Dermatol,
Vol: 156 Page: 744-7 April 2007
G. M. O'Regan; J. Zurada; A. Martinez-Mir; A. M. Christiano; A. D. Irvine
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This case report discusses a female who presented in childhood with symptoms and signs of hyperandrogenism secondary to an extraovarian steroid cell tumor
Abstract:
OBJECTIVE: To report the case of a female who presented in childhood with symptoms and signs of hyperandrogenism secondary to an extraovarian steroid cell tumor. DESIGN: Case report. SETTING: Endocrine investigation unit of a university teaching hospital. PATIENT(S): An 11-year-old female presented with symptoms and signs of hyperandrogenism. INTERVENTION(S): Ultrasonography, MRI more...
International Classification:
Other - hyperandrogenism-condiction
Categories:
hyperandrogenism
Geography:
Republic of Ireland
Fertil Steril,
Vol: 85 Page: 227 January 2006
D. Smith; T. B. Crotty; J. F. Murphy; M. E. Crofton; S. Franks; T. J. McKenna
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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
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This case report discusses acute lymphoblastic leukemia
International Classification:
Neoplasms-Malignant
Categories:
lymphoblastic leukaemia (acute)
Geography:
Republic of Ireland
Irish Medical Journal,
Vol: 94 Page: 55-56 2001
R. Kumar; A. Walsh; D. Nlall; K. Khalllullah; D. McCormack
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This case report discusses agenesis of the corpus callosum with interhemispheric cyst, hepatic haemangioma and trisomy 21
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
agenesis of the corpus callosum
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 15 Page: 149-51 July 2006
A. M. Murphy; C. Brenner; S. Ann Lynch
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This case report discusses the first case of intrapartum management of prenatal airway obstruction attempted in Ireland
Abstract:
BACKGROUND Prenatal ultrasonography predicting airway obstruction can facilitate intrapartum management, revolutionising the approach to potential airway difficulties at birth. AIMS: This report presents the first case of this procedure attempted in Ireland. RESULT AND CONCLUSION: This case was unsuccessful in securing an airway, but the potential for intubation or tracheostomy with an more...
International Classification:
Certain conditions originating in the perinatal period - Report
Categories:
intrapartum management of prenatal airway obstruction
Geography:
Republic of Ireland
Ir J Med Sci,
Vol: 171 Page: 40-1 2002 Jan-Mar
T. Mackle; C. Barry-Kinsella; J. Russell
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This case report discusses airway management in a baby with femoral hypoplasia-unusual facies syndrome
Abstract:
We report the successful fibreoptic intubation through a laryngeal mask airway (LMA) while maintaining spontaneous respiration in an anaesthetized 3-month-old female infant with femoral hypoplasia-unusual facies syndrome, in whom direct laryngoscopy and intubation proved impossible. more...
International Classification:
Syndrome
Categories:
femoral hypoplasia-unusual facies syndrome
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 12 Page: 461-4 June 2002
G. Iohom; B. Lyons; W. Casey
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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
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This case report discusses the case of a 2-year-old boy who ingested 35 mg.kg(-1) of amitriptyline.
Abstract:
We describe a case of a 2-year-old boy who ingested 35 mg.kg(-1) of amitriptyline. He developed central nervous system toxicity, as demonstrated by coma and seizures and cardiac toxicity (cardiac arrest) within 1 h of ingestion. The cardiac toxicity was refractory to standard therapy. His cardiac rhythm alternated between ventricular tachycardia and pulseless ventricular more...
International Classification:
Injury, poisoning and certain other consequences of external causes - Report
Categories:
poisioning; amitriptyline
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 16 Page: 174-7 February 2006
C. Deegan; K. O'Brien
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This case report discusses a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients.
Abstract:
Malpuech syndrome and Juberg-Hayward syndrome are considered to be distinct disorders of orofacial clefting. We present details of a patient whose clinical presentation closely resembles the profile of Malpuech syndrome, but whose radiological features are more in keeping with published observations in Juberg-Hayward patients. more...
International Classification:
Syndrome
Categories:
Juberg-Hayward syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 10 Page: 123-8 April 2001
W. Reardon; C. M. Hall; W. Gorman
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This case report discusses an unusual case of anemia and dyspnoea
International Classification:
Diseases of the blood and blood-forming organs, and certain disorders involving the immune mechanism - Report
Categories:
anemia and dyspnoea
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 92 Page: 223 March 2007
M. P. McMonagle; M. T. Corbally
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This case report discusses an unusual case of respiratory symptoms in a toddler
International Classification:
Diseases of the respiratory system - Report
Categories:
respiratory symptoms
Geography:
Republic of Ireland
Br J Radiol,
Vol: 76 Page: 921-2 December 2003
M. C. Casey; D. Rafferty; M. O'Neill
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This case report discusses a 3-year-old boy of Romanian origin with an unusual orthopaedic presentation of acute lymphoblastic leukemia
Abstract:
A 3-year-old boy of Romanian origin was admitted with the inability to weight bear and pyrexia. He was investigated to rule out septic arthritis. He subsequently developed an atypical clinical picture of fleeting joint arthritis, spiking temperature with poor response to antibiotics and atypical results of investigations. The peripheral blood smear showed a normal leukocyte count, but more...
International Classification:
Neoplasm - Report
Categories:
lymphoblastic leukaemia (acute)
Geography:
Republic of Ireland
J Pediatr Orthop B,
Vol: 12 Page: 292-4 July 2003
R. Kumar; A. Walsh; K. Khalilullah; D. McCormack; S. Ryan
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This case report discusses the perioperative management of anesthesia and analgesia in a child with sickle cell disease and a congenital myopathy, presenting for corrective orthopedic surgery
Abstract:
We report on the perioperative management of anesthesia and analgesia in a child with sickle cell disease and a congenital myopathy, presenting for corrective orthopedic surgery. The case illustrates two valuable points of interest: the many benefits of regional anesthesia in complex medical cases and the successful use of tourniquets in children with sickle cell disease. more...
International Classification:
Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism - Report
Categories:
sickle cell disease; corrective orthopedic surgery
Geography:
Republic of Ireland
Paediatr Anaesth,
Vol: 16 Page: 880-3 August 2006
R. Fanning; B. O'Donnell; B. Lynch; M. Stephens; F. O'Donovan
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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
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This case report discusses the usefulness of adult diagnostic systems in child and adolescent eating disorders
Abstract:
We report on the case of a 15-year-old boy referred to Warrenstown inpatient unit for management of what appeared to be a typical case of anorexia nervosa. Over the course of his admission however, this diagnosis was no longer considered appropriate and substituted for a food avoidance emotional disorder. This is one of a number of cases of young males who have recently been referred more...
International Classification:
Mental and behavioural disorders - Behavioural syndromes associated with physiological disturbances and physical factors - eating disorders - Report
Categories:
eating disorders
Geography:
Republic of Ireland
Irish Journal of Psychological Medicine,
Vol: 23 Page: 156-158 2006
Alma Lydon; Onome Agbahovbe; Brendan Doody
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This case report discusses a case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome.
Abstract:
A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome. more...
International Classification:
Syndrome
Categories:
Jacobsen syndrome
Geography:
Republic of Ireland
Clin Dysmorphol,
Vol: 16 Page: 177-9 July 2007
P. Foley; F. McAuliffe; M. Mullarkey; W. Reardon
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This case report discusses the anterior mitral leaflet reconstruction with pericardium in a 1.9 kg infant with endocarditis
Abstract:
A premature twin of 1.9 kg had mitral valve endocarditis develop during neonatal intensive care. Vegetation involving the entire anterior mitral valve leaflet was identified. Reconstruction was achieved by near complete resection of the anterior mitral valve leaflet and retention of the peripheral margin of coaptation including primary and secondary chordae. The body of the anterior more...
International Classification:
Diseases of the circulatory system - Report
Categories:
endocarditis
Geography:
Republic of Ireland
Ann Thorac Surg,
Vol: 81 Page: 2310-2 June 2006
D. G. Healy; A. E. Wood
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This case report discusses a newborn boy with Antley-Bixler syndrome, is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis
Abstract:
This report describes a newborn boy with Antley-Bixler (AB) syndrome. AB syndrome is a rare disorder characterized mainly by craniosynostosis and multiple joint contractures including radiohumeral synostosis. Our patient differs from the usual presentation by the presence of radioulnar rather than a radiohumeral synostosis. In addition, the child had a FGFR1 1300T mutation, which has more...
International Classification:
Syndrome
Categories:
Antley-Bixler syndrome
Geography:
Republic of Ireland
Pediatr Radiol,
Vol: 34 Page: 148-51 February 2004
M. E. Hurley; M. J. White; A. J. Green; J. Kelleher
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This case report discusses a 7-year-old boy who avulsed and inhaled a primary maxillary incisor
Abstract:
This case report describes a 7-year-old boy who avulsed and inhaled a primary maxillary incisor. Over the next number of weeks, he developed a persistent, productive cough, which was unresponsive to antibiotic therapy. Radiographic examination revealed a small radiopaque tooth-shaped object in the right hilar lung region. The aspirated tooth was subsequently successfully removed by more...
International Classification:
Dental
Categories:
avulsion
Geography:
Republic of Ireland
Dent Traumatol,
Vol: 24 Page: e24-6 October 2008
R. Leith; P. Fleming; S. Redahan; P. Doherty
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These case reports discuss a patient presenting with mental retardation and asplenia who has been shown to have a mutation at the ATR-X locus
Abstract:
Mutation at the ATR-X locus is associated with severe mental retardation. Several conditions, initially reported as clinically distinct phenotypes, have now been attributed to ATR-X mutation. Asplenia, in association with severe mental retardation, has been reported and subsequently demonstrated in one family to be due to ATR-X mutation. We now report on a second instance of a patient more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
mental retardation - genetic
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 139 Page: 37-9 November 2005
R. T. Leahy; R. K. Philip; R. J. Gibbons; C. Fisher; M. Suri; W. Reardon
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This case report examine the influence of background noise on levels of problem behaviour and pain behaviour under functional analysis conditions for a child with a diagnosis of Williams syndrome and hyperacusis
Abstract:
We examined the influence of background noise on levels of problem behavior and pain behavior under functional analysis conditions for a child with a diagnosis of Williams syndrome and hyperacusis. Background noise was associated with increases in escape-maintained problem behavior and increases in pain behavior such as clasping ears and crying. When the child was fitted with earplugs, more...
International Classification:
Mental and behavioural disorders - Report
Categories:
problem behaviour
Geography:
Republic of Ireland
J Appl Behav Anal,
Vol: 33 Page: 511-4 2000 Winter
M. F. O'Reilly; C. Lacey; G. E. Lancioni
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This case report discusses a case of asymptomatic ascariasis in a child
International Classification:
Certain infectious and parasitic diseases - Report
Categories:
asymptomatic ascariasis
Geography:
Republic of Ireland
Ir Med J,
Vol: 94 Page: 276 October 2001
J. Costello; P. Keenan
[Preview]
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This case report discusses atrioventricular block after transcatheter closure of perimembranous ventricular septal defects
Abstract:
OBJECTIVE: To look at the presentation, treatment and outcome of patients who developed atrioventricular block after transcatheter closure of a perimembranous ventricular septal defect (PMVSD) with the Amplatzer PMVSD device. SETTING: Three tertiary referral centres for paediatric cardiology in two countries. RESULTS: All three patients presented within 10 days of the procedure. All more...
International Classification:
Diseases of the circulatory system - Report
Categories:
atrioventricular block
Geography:
Republic of Ireland
Heart,
Vol: 92 Page: 1295-7 September 2006
M. A. Walsh; J. Bialkowski; M. Szkutnik; M. Pawelec-Wojtalik; W. Bobkowski; K. P. Walsh
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This case report discusses the autoamputation of a congenital oropharyngeal hairy polyp
Abstract:
Hairy polyps or dermoids are rare, benign congenital tumours of the oronasopharynx containing elements of both ectodermal and mesodermal origin. They occur most commonly in young infants and can cause respiratory distress or failure to thrive due to feeding difficulties. Computed tomography, magnetic resonance imaging, and barium video fluoroscopy can be useful in delineating the origin more...
International Classification:
Congenital malformations, deformations and chromosomal abnormalities - Report
Categories:
congenital oropharyngeal hairy polyp
Geography:
Republic of Ireland
Pediatr Surg Int,
Vol: 18 Page: 548-9 September 2002
D. De Caluwe; S. M. Kealey; R. Hayes; P. Puri
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This case report discusses a case of autoimmune progesterone dermatitis in a parturient who required emergency caesarean section
Abstract:
A parturient with a 14-year history of autoimmune progesterone dermatitis presented in labour at 36 weeks' gestation. She had suffered recurrent episodes of angioedema over a long period and had been scheduled for elective caesarean hysterectomy and bilateral oophorectomy at 37 weeks' gestation. In most cases surgical oophorectomy provides prolonged relief from the recurrent angioedema more...
International Classification:
Diseases of the skin and subcutaneous tissue - Report
Categories:
autoimmune progesterone dermatitis
Geography:
Republic of Ireland
Int J Obstet Anesth,
Vol: 13 Page: 275-8 October 2004
J. O'Rourke; N. Khawaja; J. Loughrey; P. McKenna
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This case report discusses avascular necrosis of the talus after a minimally displaced neck of talus fracture in a 6 year old child
International Classification:
Diseases of the musculoskeletal system and connective tissue - Report
Categories:
avascular necrosis of the talus
Geography:
Republic of Ireland
Injury,
Vol: 31 Page: 63-5 January 2000
I. S. Talkhani; D. Reidy; E. E. Fogarty; F. E. Dowling; D. P. Moore
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This case report discusses the inclusion of a pupil with a severe general learning difficulty in a four-teacher mainstream primary school, located in rural Ireland
Abstract:
The aim of this study was to examine the inclusion of a pupil with a severe general learning difficulty in a four-teacher mainstream primary school, located in rural Ireland. The research employed a qualitative multiple operationism approach to data collection. Data were analysed qualitatively, and quantitative reporting and display procedures were also employed. This paper focuses on more...
International Classification:
Mental and behavioural disorders - Report
Categories:
learning difficulties
Geography:
Republic of Ireland
European Journal of Special Needs Education,
Vol: 20 Page: 41-56 2005
E. Ring; J. Travers
[Preview]
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This case report discusses a case of 4q deletion syndrome, presenting with asymptomatic bilateral disk swelling
Abstract:
Terminal deletion of chromosome 4q is a genetic abnormality associated predominantly with cardiac abnormalities, abnormal facial features, and developmental delay. A specific clinical clue to this infrequently diagnosed disorder is hypoplasia of the terminal phalanx of the fifth finger with an abnormal nail, occasionally extending onto the volar surface. Ocular manifestations of the more...
International Classification:
Diseases of the eye and adnexa - Report
Categories:
asymptomatic bilateral disk swelling
Geography:
Republic of Ireland
J Aapos,
Vol: 11 Page: 516-8 October 2007
P. Connell; D. Brosnahan; A. Dunlop; W. Reardon
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This case report discusses bilateral serous retinal detachments following diode laser treatment for retinopathy of prematurity
International Classification:
Diseases of the eye and adnexa - Report
Categories:
retinopathy of prematurity
Geography:
Republic of Ireland
Arch Ophthalmol,
Vol: 121 Page: 129-30 January 2003
A. Mulvihill; B. Lanigan; M. O'Keefe
[Preview]
[Read]
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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
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This case report discusses bilateral wrist dislocation in trisomy 21
Abstract:
Ligamentous laxity is common in Trisomy 21 (Down's syndrome). The literature has numerous reports of atlanto-axial instability, patellar instability, carpal instability and other manifestations of joint instability. To date, no report has been published in the English literature describing non-traumatic unilateral or bilateral wrist dislocation either in trisomy 21 or in any other more...
International Classification:
Injury, poisoning and certain other consequences of external causes
Categories:
bilateral wrist dislocation
Geography:
Republic of Ireland
J Pediatr Orthop B,
Vol: 10 Page: 349-51 October 2001
W. M. Jan; J. G. Kennedy; F. E. Dowling; E. E. Fogarty; D. Moore
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These case reports discuss the cases of 2 related Irish families with clinically severe carbonic anhydrase II deficiency syndrome deficiency in whom the gene mutation has been fully elucidated
Abstract:
Carbonic anhydrase II (CAII), found in renal tubules, brain, and osteoclasts, is critical in acid-base homeostasis and bone remodeling. Deficiency of CAII gives rise to a syndrome of osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification with associated developmental delay. It is inherited in an autosomal recessive fashion and found most frequently in the Mediterranean more...
International Classification:
Syndrome
Categories:
Carbonic anhydrase II deficiency syndrome
Geography:
Republic of Ireland
Blood,
Vol: 97 Page: 1947-50 April 2001
C. McMahon; A. Will; P. Hu; G. N. Shah; W. S. Sly; O. P. Smith
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This case report discusses a selection of cases managed with botulinum toxin and review the current data on use of the toxin to treat salivary gland disorders - Frey's syndrome, excessive salivation, hyperhidrosis, lacrimation and chronic rhinitis.
Abstract:
SUMMARY: The use of botulinum toxin to treat disorders of the salivary glands is increasing in popularity in recent years. Recent reports of the use of botulinum toxin in glandular hypersecretion suggest overall favourable results with minimal side-effects. However, few randomised clinical trials means that data are limited with respect to candidate suitability, treatment dosages, more...
International Classification:
Syndrome
Categories:
botulinum toxin
Geography:
Republic of Ireland
J Plast Reconstr Aesthet Surg,
Vol: 61 Page: 1024-8 September 2008
T. A. Laing; M. E. Laing; S. T. O'Sullivan
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This case report discusses the clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome
Abstract:
Clinical, radiological, and audiological features are described in a boy whose condition closely parallels the profile of patients previously described with Keipert syndrome. This case represents the fourth report of this rare disorder. more...
International Classification:
Syndrome
Categories:
Keipert syndrome
Geography:
Republic of Ireland
Am J Med Genet A,
Vol: 118A Page: 86-9 April 2003
W. Reardon; C. M. Hall
[Preview]
[Read]
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This case report discusses bronchoscopically administered recombinant human DNase for lobar atelectasis in cystic fibrosis
Abstract:
Lobar atelectasis is a common complication of cystic fibrosis. The majority of cases respond to intravenous antibiotics and chest physiotherapy. In a subgroup of patients, atelectasis is resistant to medical therapy, and its persistence in the pediatric population is associated with a poor prognosis. Bronchoscopic instillation of human recombinant DNase expanded atelectatic lobes in more...
International Classification:
Endocrine, nutritional and metabolic diseases-Report
Categories:
cystic fibrosis
Geography:
Republic of Ireland
Pediatr Pulmonol,
Vol: 31 Page: 383-8 May 2001
D. M. Slattery; D. A. Waltz; B. Denham; M. O'Mahony; P. Greally
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This case report discusses the case of a 14-year-old boy who developed Kawasaki disease at 5 months of age and subsequent calcified occlusion of the right coronary artery in Kawasaki disease
Abstract:
We report the case of a 14-year-old boy who developed Kawasaki disease at 5 months of age. The patient developed severe aneurysmal disease of both the left and right coronary arteries. He eventually developed total calcified occlusion of the right coronary artery despite long-term treatment with aspirin. Catheterisation showed no antegrade flow into the right coronary artery, with more...
International Classification:
Syndrome
Categories:
Kawasaki syndrome
Geography:
Republic of Ireland
Arch Dis Child,
Vol: 91 Page: 926-8 November 2006
J. Beamish; M. J. O'Connell; A. El Khuffash; D. F. Duff; C. J. McMahon
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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
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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
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This case report discusses a carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification
Abstract:
The authors present a case of osteopetrosis due to carbonic anhydrase II deficiency. Clinical, laboratory and radiologic findings are reported. The genetics of osteopetrosis are reviewed. more...
International Classification:
Other - carbonic anhydrase II deficiency-condiction
Categories:
carbonic anhydrase II deficiency
Geography:
Republic of Ireland
J Pediatr Hematol Oncol,
Vol: 27 Page: 115-7 February 2005
M. Cotter; T. Connell; E. Colhoun; O. P. Smith; C. McMahon
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These case reports discuss two cases of cardiac diverticulum with pericardial effusion: treated by in-utero pericardiocentesis and a review of the literature
Abstract:
Congenital cardiac diverticula are rare abnormalities that may occur as isolated malformations. They are often associated with pericardial effusions, which may cause both pulmonary hypoplasia and progressive fetal hydrops. Few cases are reported in fetal life. Mount Sinai Hospital, Toronto, has previously reported two cases of cardiac diverticula complicated with pericardial effusion more...
International Classification:
Certain conditions originating in the perinatal period - Report
Categories:
in-utero pericardiocentesis
Geography:
Republic of Ireland
Ultrasound Obstet Gynecol,
Vol: 25 Page: 401-4 April 2005
F. M. McAuliffe; L. K. Hornberger; J. Johnson; D. Chitayat; G. Ryan
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This case report discusses an unusual cause of stridor in a post-liver transplant 6-year old
Abstract:
Polymorphic lymphoproliferative disorder is a recognised cause of upper airway obstruction in children [N. Sculerati, M. Arriga, Ann. Otol. Rhinol. Laryngol 99 (1990) 445-450]. It is associated with long-term immunosuppression therapy and frequently with Epstein-Barr virus (EBV) infection [D.W. Hanto, Annu. Rev. Med. 46 (1995) 381-394; B.D. Fletcher, H.E. Heslop, H.C. Kaste, S. Bodner, more...
International Classification:
Organ transplants - liver
Categories:
post-liver transplant
Geography:
Republic of Ireland
Int J Pediatr Otorhinolaryngol,
Vol: 54 Page: 149-51 August 2000
M. A. Rafferty; D. Devaney; J. Russell
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