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1.
Ir Med J ; 115(1): 518, 2022 Jan 20.
Article in English | MEDLINE | ID: mdl-35279052

ABSTRACT

Objective Day case tonsillectomy is standard practice in many international centres, and is widespread across the UK. In Ireland, implementation has been slow for multiple reasons. Our unit aimed to introduce day case tonsillectomy, following a pilot programme. Following a year of implementation we have reaudited our practice. We hypothesised that day case tonsillectomy is a practical and favourable solution to facilitate access to surgery in the context of long waiting times for ENT surgery. Methods This was a prospective audit collecting data on day case tonsillectomy. All patients for day case tonsillectomy were selected in OPD according to our inclusion criteria. We recorded demographical data, surgical technique, length of stay, failed discharges, bleeding rate and readmission rate. Results There was one primary haemorrhage within 24 hours of surgery (0.08%). There were 16 secondary bleeds, giving a rate of 13.9%. Of these, four patients required a return to theatre for the cessation of bleeding (3.5%). There was no statistical significance in bleed rate between surgical technique. Failed discharge rate was 6%. The average time from extubation to discharge was 6 hours and 53 minutes. Conclusions Our experience of day case tonsillectomy is that it is safe, feasible and efficient in a selected group of patients. This can expedite long waiting times for tonsillectomy, and improve access to overnight beds for other cases. Our numbers represent the first unit in Ireland to have 2 year of experience with data showing successful implementation.


Subject(s)
Tonsillectomy , Ambulatory Surgical Procedures , Humans , Ireland
2.
Med Educ ; 52(6): 632-640, 2018 06.
Article in English | MEDLINE | ID: mdl-29508419

ABSTRACT

OBJECTIVES: Residency is a critical step in the professional development of physicians. Given the high stakes of the process, it is not surprising, although nonetheless troubling, that professional misconduct may occur: multiple studies have, rightfully, condemned applicants for plagiarising personal statements or misrepresenting publications. To date, however, no studies have examined whether faculty members may engage in similar behaviours. METHODS: Software was used to evaluate 3864 unique applications containing 13 617 letters of recommendation submitted through the Electronic Residency Application Service (ERAS) to the Yale University Department of Psychiatry Residency Program in recruitment cycles from 2013-2014 to 2016-2017. The software identified pairs of letters written by different authors with at least 75 words of shared language, counting only words present in contiguous phrases of at least eight words (Shared Wording Across People, SWAP). Independent reviewers determined whether the shared language reflected acceptable forms of common usage (e.g. describing a setting of care) or was intended to convey unique attributes of an applicant, thereby representing plagiarism. RESULTS: We found that 5.1% of letters contained SWAP and 4.1% of letters contained plagiarism. In total, 11.8% of all applications included at least one plagiarised letter. By comparison, 2.6% of applicants' personal statements contained plagiarism. CONCLUSIONS: The present data demonstrate a surprising prevalence of plagiarism in letters of recommendation written for residency applicants. These data call into question both the relative weight that should be accorded to letters of recommendation and, more broadly, beg further discussion of how we conceptualise professionalism in medicine.


Subject(s)
Internship and Residency/standards , Personnel Selection/standards , Plagiarism , School Admission Criteria , Correspondence as Topic , Humans , Internship and Residency/organization & administration , Retrospective Studies
3.
J Laryngol Otol ; 136(7): 654-658, 2022 Jul.
Article in English | MEDLINE | ID: mdl-35086582

ABSTRACT

OBJECTIVE: To assess parent or guardian satisfaction with a newly instituted day-case tonsillectomy programme at a tertiary paediatric institution. METHODS: After receiving ethical approval, an anonymous questionnaire was sent to the parent or guardian of every patient who underwent day-case tonsillectomy between July 2018 and December 2020. RESULTS: A total of 135 patients were included. The parent or guardian of each patient was sent a questionnaire to be filled in and returned. Ninety-two completed surveys were returned. There were high satisfaction levels, with 91.3 per cent of parents or guardians feeling comfortable bringing their child home, and 92.4 per cent of parents or guardians would recommend day-case tonsillectomy to another parent or guardian. Of the parents or guardians, 10.9 per cent needed to contact healthcare services in the 24 hours following surgery. CONCLUSION: Day-case tonsillectomy has proven to be a safe, efficient service at our institution, with high satisfaction levels from patients and parents or guardians. Areas for improvement focused on communication at the time of discharge regarding follow up and analgesia.


Subject(s)
Tonsillectomy , Ambulatory Surgical Procedures , Child , Humans , Parents , Patient Satisfaction , Personal Satisfaction , Surveys and Questionnaires
4.
Eur J Paediatr Neurol ; 12(2): 137-40, 2008 Mar.
Article in English | MEDLINE | ID: mdl-17897850

ABSTRACT

Acute, acquired demyelination of central nervous system in childhood leads to a variety of clinical phenotypes dependant on the site of demyelination and presence of encephalopathy. Posterior fossa involvement is seen in over third of cases in childhood. We report on four children who had cerebellar involvement with significant mass effect in posterior fossa on CT and MRI brain. This subgroup of children have significant cerebellar and brainstem swelling (rhombencephalitis) and is difficult to distinguish entirely on clinical grounds from other children with acute demyelinating events at presentation.


Subject(s)
Cranial Fossa, Posterior/pathology , Demyelinating Diseases/pathology , Encephalitis/pathology , Brain/pathology , Brain Edema/pathology , Cerebellum/pathology , Child , Child, Preschool , Encephalitis/complications , Female , Humans , Magnetic Resonance Imaging , Male , Tomography, X-Ray Computed
5.
J Nutr Health Aging ; 12(9): 652-6, 2008 Nov.
Article in English | MEDLINE | ID: mdl-18953464

ABSTRACT

OBJECTIVES: Involuntary weight loss affects 20% of community dwelling older adults. The underlying mechanism for this disorder is unknown. Objective is to determine if failure of older persons to regain weight is associated with elevated pro-inflammatory cytokine and leptin levels. DESIGN: Prospective diet intervention study. SETTING: University of Washington Medical Center from 2001-2005. PARTICIPANTS: Twenty-one younger (18-35 years old) and nineteen older (>or= 70 years old) men and women. INTERVENTION: Each subject was placed for two weeks on a weight-maintaining diet, followed in sequence by 2 weeks of 30% caloric restriction, then 4 weeks of ad libitum food intake. MEASUREMENTS: Plasma leptin levels, fasting serum pro-inflammatory cytokine levels, and peripheral blood mononuclear cell cytokine levels were measured. RESULTS: Leptin levels in the two cohorts decreased after caloric restriction and increased after ad-libitum food consumption resumed. Plasma TNF alpha levels were higher in older subjects compared to younger adults. However, there was no association between changes in TNF alpha levels and changes in AUC leptin. CONCLUSION: Leptin levels in healthy older individuals responded appropriately in a compensatory manner to changes in body weight. These data do not support a cytokine dependent elevation in leptin levels as being responsible for the failure of older adults to regain weight.


Subject(s)
Aging/blood , Diet, Reducing , Leptin/blood , Obesity/blood , Obesity/diet therapy , Weight Loss/physiology , Adolescent , Adult , Age Factors , Aged , Aging/immunology , Aging/physiology , Area Under Curve , Cytokines/blood , Female , Humans , Male , Young Adult
8.
Ir Med J ; 101(1): 14, 2008 Jan.
Article in English | MEDLINE | ID: mdl-18369017

ABSTRACT

Effective canal wall down mastoid surgery requires attention to certain key principles. We reviewed all cases requiring revision surgery at the Royal Victoria Eye and Ear Hospital over a 6 year period 1999-2004. Intraoperative findings which contributed to the need for revision surgery were identified. During this 6 year period 291 canal wall down mastoidectomies were performed. Thirty-seven were revision procedures. Nineteen (51%) cases were found to have recurrent or residual cholesteatoma. Sixteen (43%) cases had a high facial ridge, thirteen (35%) cases had an open middle ear. Nine (24%) cases had an inadequate meatus, 2 (5%) cases had a cavity sump. This study illustrated that a high facial ridge, an open middle ear segment, an inadequate meatoplasty and recurrent cholesteatoma were common intraoperative findings in this revision group. Eighty-nine percent of revision cases had dry, healed and safe cavities on follow up. Poor performance of the open technique is the most important factor in failure.


Subject(s)
Cholesteatoma, Middle Ear/surgery , Mastoid/surgery , Adolescent , Adult , Aged , Child , Child, Preschool , Cholesteatoma, Middle Ear/epidemiology , Female , Humans , Male , Middle Aged , Otologic Surgical Procedures/methods , Otologic Surgical Procedures/statistics & numerical data , Recurrence , Reoperation , Retrospective Studies , Treatment Outcome
9.
Inform Health Soc Care ; 43(3): 320-333, 2018 Sep.
Article in English | MEDLINE | ID: mdl-28399725

ABSTRACT

BACKGROUND: Older adults apply various strategies to pursue healthy aging, but we know little about their views and use of personal health information to accomplish those ends. METHODS: As a first step in formulating the role of personal health information management (PHIM) in healthy aging, we explored the perspectives of older adults on health and health information used in their everyday lives through four focus groups with 25 community-dwelling adults aged 60 and over. RESULTS: We found that the concept of wellness-the holistic and multidimensional nature of health and wellbeing-plays prominently in how older adults think about health and health information. Participants expressed wellness from a position of personal strength, rather than health-related deficits, by focusing on wellness activities for staying healthy through: (1) personal health practices, (2) social network support, and (3) residential community engagement. CONCLUSION: Although these themes involve personal health information, existing PHIM systems that focus on disease management are generally not designed to support wellness activities. Substantial opportunity exists to fill this wellness support gap with innovative health information technology designed for older adults. Findings carry implications for the design of PHIM tools that support healthy aging and methods for engaging older adults as co-producers of this critical support.


Subject(s)
Health Records, Personal , Independent Living , Patient Preference , Aged , Aged, 80 and over , Chronic Disease , Female , Focus Groups , Humans , Male , Middle Aged , Personal Satisfaction , Social Networking
10.
QJM ; 111(4): 225-229, 2018 Apr 01.
Article in English | MEDLINE | ID: mdl-29272506

ABSTRACT

BACKGROUND: Home haemodialysis (HHD) has the potential to impact positively on patient outcomes and health resource management. There has been rejuvenated international interest in HHD in recent years. AIM: We aimed to review the activity and outcomes of the Irish HHD Programme since inception (2009-16). DESIGN: Retrospective review. METHODS: Patient data were collected using the national electronic Renal Patient database (eMEDRenal version 3.2.1) and individual centre records. All data were recorded in a coded fashion on a Microsoft Excel Spread-sheet and analysed with Stata SE software. RESULTS: One hundred and one patients completed training and commenced HHD; a further fourty-five patients were assessed for HHD suitability but did not ultimately dialyse at home. Twenty patients switched to nocturnal HHD when this resource became available. The switch from conventional in-centre dialysis to HHD led to an increase in the mean weekly hours on haemodialysis (HD) and a reduction in medication burden for the majority of patients. The overall rate of arteriovenous fistula (AVF) as primary vascular access was 62%. Most HHD complications were related to access function or access-related infection. Over the 7-years, 29 HHD patients were transplanted and 9 patients died. No deaths resulted directly from a HHD complication or technical issue. CONCLUSIONS: Patient and technique survival rates compared favourably to published international reports. However, we identified several aspects that require attention. A small number of patients were receiving inadequate dialysis and require targeted education. Ongoing efforts to increase AVF and self-needling rates in HD units must continue. Psychosocial support is critical during the transition between dialysis modalities.


Subject(s)
Hemodialysis, Home , Kidney Failure, Chronic/therapy , Adult , Aged , Aged, 80 and over , Female , Humans , Ireland , Kidney Failure, Chronic/mortality , Kidney Transplantation , Male , Middle Aged , Retrospective Studies , Survival Rate
11.
J Med Genet ; 43(6): 541-4, 2006 Jun.
Article in English | MEDLINE | ID: mdl-16299064

ABSTRACT

BACKGROUND: Mutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associated with severe neurological signs. METHODS AND RESULTS: We report a new phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype. This phenotype is associated with a splice site mutation in FLNA c.1923C>T, resulting in the generation of both normal and aberrant mRNA. CONCLUSIONS: We postulate that the patient retains enough FLNA function to avoid the usual lethality associated with loss of function mutations in males and suggest that the severe constipation may be a clue to the molecular aetiology of other X linked conditions associated with severe constipation.


Subject(s)
Abnormalities, Multiple/diagnosis , Cerebral Ventricles , Choristoma/diagnosis , Constipation/diagnosis , Contractile Proteins/genetics , Craniofacial Abnormalities/diagnosis , Microfilament Proteins/genetics , RNA Splicing/genetics , Abnormalities, Multiple/genetics , Adult , Child, Preschool , Choristoma/genetics , Constipation/genetics , Contractile Proteins/metabolism , Craniofacial Abnormalities/genetics , DNA Mutational Analysis , Diagnosis, Differential , Female , Filamins , Humans , Infant , Infant, Newborn , Magnetic Resonance Imaging , Male , Microfilament Proteins/metabolism , Syndrome
12.
Ir Med J ; 100(4): 425-7, 2007 Apr.
Article in English | MEDLINE | ID: mdl-17566475

ABSTRACT

Vascular birthmarks comprise a diverse group of congenital lesions and represent a significant cosmetic and functional burden for patients. They remain a diagnostic and management challenge for physicians due to their extremely variable clinical presentation and often complex anatomical associations. As each type of vascular lesion has a treatment program individual to it, optimal functional and cosmetic outcomes require accurate diagnosis. Primary physicians readily diagnose and manage uncomplicated lesions, such as isolated haemangiomas and innocuous capillary malformations. However, given the complexity and relative rarity of many other vascular birthmarks, specialised multidisciplinary clinics are central to their management. In this review, we present our experience regarding the diagnostic range of vascular anomalies, associated symptomatology, and management of patients with vascular birthmarks attending the multidisciplinary Joint Vascular Birthmark Clinic at Our Lady's Children's Hospital, Crumlin. Vascular tumours represented 57% of cases reviewed, malformations accounting for 43%. Of patients not previously seen at the JVBC or by any of the individual consultants, the initial or referring diagnosis was incorrect in 42%. Significantly, 62% of vascular malformations were assigned an incorrect diagnosis, highlighting the need for a specialised clinic.


Subject(s)
Blood Vessels/pathology , Cafe-au-Lait Spots/diagnosis , Hemangioma/diagnosis , Nevus, Pigmented/diagnosis , Port-Wine Stain/diagnosis , Cafe-au-Lait Spots/therapy , Child, Preschool , Female , Hemangioma/pathology , Hospitals, Pediatric , Humans , Infant , Infant, Newborn , Ireland , Male , Nevus, Pigmented/therapy , Port-Wine Stain/therapy , Retrospective Studies
13.
Ir Med J ; 99(10): 311-2, 2006.
Article in English | MEDLINE | ID: mdl-17274177

ABSTRACT

Pemphigus vulgaris is a rare cause of oral ulceration. A 34 year old male presented with a three week history of severe oral ulceration which was initially treated as aphthous ulceration. However, he failed to improve and a mucosal biopsy was performed. Histology and immunostaining confirmed pemphigus vulgaris.


Subject(s)
Biopsy , Mouth Mucosa/pathology , Oral Ulcer/pathology , Pemphigus/pathology , Adult , Fluorescent Antibody Technique , Humans , Immunohistochemistry , Male
14.
Cochlear Implants Int ; 17(1): 52-7, 2016.
Article in English | MEDLINE | ID: mdl-26252564

ABSTRACT

INTRODUCTION: Although, the association between Down syndrome (DS) and conductive hearing loss is well recognized, the fact that a small proportion of these children may have a severe to profound sensorineural hearing loss that could benefit from cochlear implantation (CI) is less well understood. The management of significant co-morbidities in children with DS can delay initial diagnosis of hearing impairment and assessment of suitability for CI can likewise be challenging, due to difficulties conditioning to behavioural hearing tests. METHODS: We performed a retrospective case note review of three children with DS referred to the Manchester Cochlear Implant Programme. RESULTS: Three illustrative cases are described including CI in a 4 years old. Using conventional outcome measurement instruments, the outcome could be considered to be suboptimal with a Categories of Auditory Performance score of 4 at 6 months post-op and at last follow up. In part, this is likely to reflect the delay in implantation, but the role of cognitive impairment must be considered. The cases described emphasize the importance of comprehensive radiological and audiological assessment in children with DS being considered for CI. CONCLUSION: The influence of cognitive impairment upon outcome of CI must be taken into account, but should not be considered a contra-indication to implantation in children with DS. Benefit that might be considered limited when quantified using existing general outcome measurement instruments, may have a significant impact upon psychosocial development and quality of life in children with significant cognitive impairment, or other additional needs.


Subject(s)
Cochlear Implantation/psychology , Cochlear Implants/psychology , Down Syndrome/complications , Hearing Loss, Conductive/surgery , Hearing Loss, Sensorineural/surgery , Child , Child, Preschool , Cognition Disorders , Down Syndrome/psychology , Female , Hearing Loss, Conductive/complications , Hearing Loss, Conductive/psychology , Hearing Loss, Sensorineural/complications , Hearing Loss, Sensorineural/psychology , Hearing Tests/psychology , Humans , Infant , Patient Selection , Quality of Life , Retrospective Studies , Treatment Outcome
15.
J Clin Pathol ; 2016 Apr 27.
Article in English | MEDLINE | ID: mdl-27122186

ABSTRACT

AIMS: In an era when clinical microbiology laboratories are under increasing financial pressure, there is a need for inexpensive, yet effective, rapid microbiology tests. The aim of this study was to evaluate a novel modification of standard methodology for the identification and antimicrobial susceptibility testing (AST) of pathogens in positive blood cultures, reducing the turnaround time of laboratory results by 24 h. METHODS: 277 positive blood cultures had a Gram stain performed and were subcultured and incubated at 37°C in a CO2 atmosphere for 4-6 h. Identification of the visible growth was performed using matrix-assisted laser desorption time of flight mass spectrometry (MALDI-TOF MS). Taking a modified approach to the Clinical and Laboratory Standards Institute-standardised AST methodology, an inoculum density of 0.5 McFarland was prepared from the early growth for disc diffusion testing. The standard AST method was also performed on the 18-24 h culture. RESULTS: 96% (n=73/76) of gram-negative organisms were correctly identified by MALDI-TOF MS. Comparative analysis of the rapid and standard AST results showed an overall interpretive category error rate of 7.7% (6.7% minor errors, 0.6% major errors and 0.4% very major errors). 100% of Staphylococcus aureus (n=41) and enterococcus isolates (n=9) were correctly identified after 4-6 h incubation. The overall AST categorical agreement was also 100% for these isolates. CONCLUSIONS: An incubation of 4-6 h directly from positive blood cultures allowed for both a rapid species identification and an antimicrobial susceptibility result approximately 24 h earlier than is possible using standard methodology.

16.
BMJ Case Rep ; 20162016 Dec 21.
Article in English | MEDLINE | ID: mdl-28003228

ABSTRACT

A 36-year-old man was brought to the emergency department by emergency medical services after being found acting unusually at a gas station with blood on his head and clothing. He presented acutely psychotic and reported that he had a pen in his head. Medical evaluation was notable for a superficial puncture wound to the right temple, and he was medically cleared for psychiatric evaluation. After he developed nausea and headache later that evening, the CT scan revealed a temporal bone fracture, pneumocephalus, intraparenchymal haemorrhage and the presence of a metal pen tip lodged in the brain parenchyma. The full nature of the injury went undiscovered in the emergency department for 16 hours due to the superficial appearance of the injury and his acute psychosis with prominent delusional thought content and disorganisation. He underwent craniotomy with removal of the pen and subsequent hospitalisation for intravenous antibiotics, followed by a prolonged psychiatric hospitalisation for psychosis.


Subject(s)
Brain Injuries, Traumatic/diagnostic imaging , Psychotic Disorders/complications , Self-Injurious Behavior/diagnostic imaging , Skull Fractures/diagnostic imaging , Wounds, Penetrating/diagnostic imaging , Acute Disease , Adult , Brain/diagnostic imaging , Brain Injuries, Traumatic/psychology , Cerebral Hemorrhage/diagnostic imaging , Cerebral Hemorrhage/psychology , Cerebral Hemorrhage, Traumatic/diagnostic imaging , Cerebral Hemorrhage, Traumatic/psychology , Delayed Diagnosis , Foreign Bodies/diagnostic imaging , Foreign Bodies/psychology , Headache Disorders/psychology , Humans , Male , Self-Injurious Behavior/psychology , Skull Fractures/psychology , Temporal Bone/injuries , Tomography, X-Ray Computed , Wounds, Penetrating/psychology
17.
Int J Pediatr Otorhinolaryngol ; 69(1): 87-91, 2005 Jan.
Article in English | MEDLINE | ID: mdl-15627453

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 magnetic resonance imaging (MRI) confirmed the large mass in the anterior nasal cavity extending superiorly to the cribriform plate on the right hand side. The polyp was resected endoscopically and confirmed histologically as a COREAH. The clinical differential diagnosis includes cartilaginous tumours and other hamartomatous lesions. Local resection should be curative.


Subject(s)
Hamartoma/diagnosis , Nasal Cavity/surgery , Nose Diseases/diagnosis , Cartilage/surgery , Child , Diagnosis, Differential , Endoscopy , Hamartoma/surgery , Humans , Magnetic Resonance Imaging , Male , Nose Diseases/surgery , Respiratory Mucosa/pathology , Tomography, X-Ray Computed
18.
Diabetes Care ; 9(3): 250-4, 1986.
Article in English | MEDLINE | ID: mdl-3525055

ABSTRACT

While differences in glucose and insulin responses to specific carbohydrate foods have been reported, few data are available for mixed meals incorporating such foods. This study compared the plasma glucose (PG), serum insulin (SI), and C-peptide (CP) responses to three different isocaloric test breakfasts given in random order to eight insulin-treated non-insulin-dependent diabetes mellitus (NIDDM) patients. The test meals were selected from a hospital food exchange list and contained similar quantities of carbohydrate, protein, fat, and dietary fiber. The postprandial PG, SI, and CP responses to two of the test breakfasts (meal A: eggs, toasted wholemeal bread, orange juice, margarine, and milk; meal B: wheatflake biscuits, toasted wholemeal bread, milk, and margarine) were similar (meal A: 104.3 +/- 23.0 mg X h X dl-1, 5996 +/- 1108 microU X min X ml-1, and 89.8 +/- 25.4 pmol X min X ml-1, respectively; meal B: 104.9 +/- 21.6 mg X h X dl-1, 6268 +/- 1161 microU X min X ml-1, and 99.8 +/- 26.4 pmol X min X ml-1, respectively). Meal C, consisting of toasted muesli and skim milk, produced smaller glycemic and insulin responses (46.8 +/- 8.8 mg X h X dl-1; P less than .02, and 4369 +/- 700 microU X min X ml-1; P less than .05, respectively) than meals A and B and less endogenous insulin secretion (CP response 62.8 +/- 19.9 pmol X min X ml-1; P less than .05 compared with meal A, NS compared with meal B).(ABSTRACT TRUNCATED AT 250 WORDS)


Subject(s)
Blood Glucose/metabolism , C-Peptide/blood , Diabetes Mellitus, Type 2/diet therapy , Diet, Diabetic , Insulin/blood , Adult , Aged , Diabetes Mellitus, Type 2/blood , Diabetes Mellitus, Type 2/drug therapy , Fasting , Female , Humans , Insulin/therapeutic use , Male , Middle Aged , Random Allocation
19.
Neurology ; 53(4): 715-22, 1999 Sep 11.
Article in English | MEDLINE | ID: mdl-10489031

ABSTRACT

OBJECTIVE: To determine the types, relative frequencies, clinical features, and MRI characteristics of malformations of cortical development (MCD) occurring in a cohort of children referred to a tertiary pediatric center. METHODS: Original MR images were reviewed by two investigators, who were blinded to clinical details, to determine the elemental imaging features of each malformation and to label these malformations according to an existing system of classification. Clinical information was collected by a review of hospital records. RESULTS: A total of 109 children with MCD were identified. There were 58 boys and 51 girls, age 8 days to 18 years at initial imaging (mean age, 5 years). Seizures were present in 75%, developmental delay or intellectual disability in 68%, abnormal neurologic findings in 48%, and congenital anomalies apart from the CNS malformation in 18%. The main malformations identified were heterotopic gray matter (19%), cortical tubers (17%), focal cortical dysplasia (16%), polymicrogyria (16%), agyria/pachygyria (15%), schizencephaly/cleft (5%), transmantle dysplasia (5%), and hemimegalencephaly (4%). Eight patients had features of more than one malformation. Most lesions were multilobar (47%), with the frontal lobe being the most common lobe involved (78%). A total of 68% of patients had other cerebral malformations including ventricular dilatation or dysmorphism (46%) and abnormalities of the corpus callosum (29%). CONCLUSIONS: This study illustrates the spectrum of MCD in a pediatric cohort and highlights some of the differences between pediatric and adult patients. Patients with MCD presenting in childhood have a wider spectrum of malformations and more varied, often more severe, clinical manifestations. The lesions are frequently multifocal or generalized and many are associated with noncortical developmental brain anomalies.


Subject(s)
Brain Diseases/pathology , Brain/abnormalities , Brain/pathology , Child, Preschool , Epilepsy/pathology , Female , Humans , Magnetic Resonance Imaging , Male
20.
J Hypertens ; 13(4): 397-404, 1995 Apr.
Article in English | MEDLINE | ID: mdl-7629399

ABSTRACT

OBJECTIVE: To determine associations between cardiovascular parameters and genotype in 205 F2 rats of both sexes and lineages from reciprocal crosses made between rats of the New Zealand genetically hypertensive (GH) and Brown Norway (BN) rat strains. METHODS: Systolic tail blood pressure, mean arterial blood pressure, pulse rate, heart mass, body mass and relative heart mass were determined for each rat in the age range 17-19 weeks, and DNA polymorphisms were examined for the guanylyl cyclase A (GCA), angiotensin converting enzyme (ACE) and renin (REN) genes. RESULTS: The phenotypic data indicated the presence of genes on the X and Y chromosomes that affected blood pressure. The GH GCA allele, in males only, and the GH ACE allele, in females only, both cosegregated with increased blood pressure. The ACE effect was confined to rats of one lineage only, namely those with GH grandfathers. A cosegregation of the GH REN allele with decreased blood pressure was also detected in females with BN grandfathers. In contrast, the GH REN allele cosegregated with a smaller heart in males only, whereas the GH ACE allele cosegregated with a larger heart both in males and in females. In males this was the consequence of a decrease in body mass with no change in absolute heart mass, whereas in females there were changes in both of these parameters. CONCLUSIONS: The results show that cardiac hypertrophy and blood pressure have independent genetic determinants in the GH rat, and indicate the importance of sex in determining the phenotypic expression of genes underlying cardiovascular pathology.


Subject(s)
Blood Pressure/genetics , Cardiomegaly/genetics , Hypertension/genetics , Animals , Base Sequence , Blood Pressure/physiology , Cardiomegaly/physiopathology , DNA/genetics , Disease Models, Animal , Female , Genotype , Guanylate Cyclase/genetics , Hypertension/physiopathology , Male , Molecular Sequence Data , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic , Rats , Rats, Inbred BN , Receptors, Atrial Natriuretic Factor/genetics , Renin/genetics , Sex Chromosomes/genetics
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