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1.
Ir Med J ; 115(1): 518, 2022 Jan 20.
Artigo em Inglês | MEDLINE | ID: mdl-35279052

RESUMO

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.


Assuntos
Tonsilectomia , Procedimentos Cirúrgicos Ambulatórios , Humanos , Irlanda
2.
J Laryngol Otol ; 136(7): 654-658, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35086582

RESUMO

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.


Assuntos
Tonsilectomia , Procedimentos Cirúrgicos Ambulatórios , Criança , Humanos , Pais , Satisfação do Paciente , Satisfação Pessoal , Inquéritos e Questionários
3.
Med Educ ; 52(6): 632-640, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29508419

RESUMO

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.


Assuntos
Internato e Residência/normas , Seleção de Pessoal/normas , Plágio , Critérios de Admissão Escolar , Correspondência como Assunto , Humanos , Internato e Residência/organização & administração , Estudos Retrospectivos
4.
Inform Health Soc Care ; 43(3): 320-333, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28399725

RESUMO

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.


Assuntos
Registros de Saúde Pessoal , Vida Independente , Preferência do Paciente , Idoso , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Grupos Focais , Humanos , Masculino , Pessoa de Meia-Idade , Satisfação Pessoal , Rede Social
5.
QJM ; 111(4): 225-229, 2018 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-29272506

RESUMO

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.


Assuntos
Hemodiálise no Domicílio , Falência Renal Crônica/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Irlanda , Falência Renal Crônica/mortalidade , Transplante de Rim , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Taxa de Sobrevida
6.
BMJ Case Rep ; 20162016 Dec 21.
Artigo em Inglês | MEDLINE | ID: mdl-28003228

RESUMO

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.


Assuntos
Lesões Encefálicas Traumáticas/diagnóstico por imagem , Transtornos Psicóticos/complicações , Comportamento Autodestrutivo/diagnóstico por imagem , Fraturas Cranianas/diagnóstico por imagem , Ferimentos Penetrantes/diagnóstico por imagem , Doença Aguda , Adulto , Encéfalo/diagnóstico por imagem , Lesões Encefálicas Traumáticas/psicologia , Hemorragia Cerebral/diagnóstico por imagem , Hemorragia Cerebral/psicologia , Hemorragia Cerebral Traumática/diagnóstico por imagem , Hemorragia Cerebral Traumática/psicologia , Diagnóstico Tardio , Corpos Estranhos/diagnóstico por imagem , Corpos Estranhos/psicologia , Transtornos da Cefaleia/psicologia , Humanos , Masculino , Comportamento Autodestrutivo/psicologia , Fraturas Cranianas/psicologia , Osso Temporal/lesões , Tomografia Computadorizada por Raios X , Ferimentos Penetrantes/psicologia
7.
J Clin Pathol ; 2016 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-27122186

RESUMO

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.

8.
Cochlear Implants Int ; 17(1): 52-7, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26252564

RESUMO

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.


Assuntos
Implante Coclear/psicologia , Implantes Cocleares/psicologia , Síndrome de Down/complicações , Perda Auditiva Condutiva/cirurgia , Perda Auditiva Neurossensorial/cirurgia , Criança , Pré-Escolar , Transtornos Cognitivos , Síndrome de Down/psicologia , Feminino , Perda Auditiva Condutiva/complicações , Perda Auditiva Condutiva/psicologia , Perda Auditiva Neurossensorial/complicações , Perda Auditiva Neurossensorial/psicologia , Testes Auditivos/psicologia , Humanos , Lactente , Seleção de Pacientes , Qualidade de Vida , Estudos Retrospectivos , Resultado do Tratamento
11.
J Laryngol Otol ; 125(11): 1158-63, 2011 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21854690

RESUMO

INTRODUCTION: A vascular ring refers to encirclement of the trachea and oesophagus by an abnormal combination of derivatives of the aortic arch system. These malformations can cause variable degrees of compression of the oesophagus, trachea or both. Symptoms can range from no effect to severe stridor, dyspnoea and/or dysphagia. METHOD AND RESULTS: This study presents a case series of six patients treated over a six-year period (2003-2009), illustrating the features of four different types of vascular ring; these types are discussed in detail. The clinical presentation, radiology, and microlaryngoscopy and bronchoscopy findings are also discussed. CONCLUSION: The management of children with vascular rings requires a high index of clinical suspicion to ensure prompt diagnosis. As many of these children present with airway symptoms, the paediatric otolaryngologist plays a key role in identifying and assessing their anatomical anomalies.


Assuntos
Artérias/anormalidades , Doenças das Cartilagens/complicações , Malformações Vasculares/diagnóstico , Malformações Vasculares/fisiopatologia , Obstrução das Vias Respiratórias/diagnóstico , Obstrução das Vias Respiratórias/etiologia , Angiografia/métodos , Broncoscopia/métodos , Doenças das Cartilagens/congênito , Doenças das Cartilagens/cirurgia , Pré-Escolar , Transtornos de Deglutição/etiologia , Síndrome de DiGeorge/complicações , Síndrome de Down/complicações , Dispneia/etiologia , Feminino , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , Masculino , Tomografia Computadorizada Multidetectores/métodos , Sons Respiratórios/etiologia , Traqueia/anormalidades , Traqueia/cirurgia , Malformações Vasculares/cirurgia
12.
Ir J Med Sci ; 180(1): 177-9, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21132396

RESUMO

BACKGROUND: The Oxford English dictionary defines the term "simple" as "easily done" and "uncomplicated". We tested the validity of this terminology in relation to open nephrectomy surgery. METHODS: Retrospective review of 215 patients undergoing open, simple (n = 89) or radical (n = 126) nephrectomy in a single university-affiliated institution between 1998 and 2002. Operative time (OT), estimated blood loss (EBL), operative complications (OC) and length of stay in hospital (LOS) were analysed. Statistical analysis employed Fisher's exact test and Stata Release 8.2. RESULTS: Simple nephrectomy was associated with shorter OT (mean 126 vs. 144 min; p = 0.002), reduced EBL (mean 729 vs. 859 cc; p = 0.472), lower OC (9 vs. 17%; 0.087), and more brief LOS (mean 6 vs. 8 days; p < 0.001). CONCLUSIONS: All parameters suggest favourable outcome for the simple nephrectomy group, supporting the use of this terminology. This implies "simple" nephrectomies are truly easier to perform with less complication than their radical counterpart.


Assuntos
Nefrectomia/métodos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Perda Sanguínea Cirúrgica , Feminino , Humanos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Terminologia como Assunto , Adulto Jovem
13.
J Nutr Health Aging ; 12(9): 652-6, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18953464

RESUMO

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.


Assuntos
Envelhecimento/sangue , Dieta Redutora , Leptina/sangue , Obesidade/sangue , Obesidade/dietoterapia , Redução de Peso/fisiologia , Adolescente , Adulto , Fatores Etários , Idoso , Envelhecimento/imunologia , Envelhecimento/fisiologia , Área Sob a Curva , Citocinas/sangue , Feminino , Humanos , Masculino , Adulto Jovem
14.
Ir Med J ; 101(1): 14, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18369017

RESUMO

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.


Assuntos
Colesteatoma da Orelha Média/cirurgia , Processo Mastoide/cirurgia , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Colesteatoma da Orelha Média/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Procedimentos Cirúrgicos Otológicos/métodos , Procedimentos Cirúrgicos Otológicos/estatística & dados numéricos , Recidiva , Reoperação , Estudos Retrospectivos , Resultado do Tratamento
15.
Eur J Paediatr Neurol ; 12(2): 137-40, 2008 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17897850

RESUMO

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.


Assuntos
Fossa Craniana Posterior/patologia , Doenças Desmielinizantes/patologia , Encefalite/patologia , Encéfalo/patologia , Edema Encefálico/patologia , Cerebelo/patologia , Criança , Pré-Escolar , Encefalite/complicações , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
16.
Ir Med J ; 100(4): 425-7, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17566475

RESUMO

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.


Assuntos
Vasos Sanguíneos/patologia , Manchas Café com Leite/diagnóstico , Hemangioma/diagnóstico , Nevo Pigmentado/diagnóstico , Mancha Vinho do Porto/diagnóstico , Manchas Café com Leite/terapia , Pré-Escolar , Feminino , Hemangioma/patologia , Hospitais Pediátricos , Humanos , Lactente , Recém-Nascido , Irlanda , Masculino , Nevo Pigmentado/terapia , Mancha Vinho do Porto/terapia , Estudos Retrospectivos
17.
Ir J Med Sci ; 176(2): 133-6, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17476565

RESUMO

BACKGROUND: Caffey's disease or infantile cortical hyperostosis is a rare cause of irritability, bone pain, soft tissue swelling and fever in the infant. AIMS: To review the presentation and diagnosis of an 8-week old infant with focal tenderness of the tibia. METHODS: The symptoms, signs, laboratory work-up and radiology are reviewed. RESULTS: The child presented with focal bony tenderness and pyrexia. Laboratory work-up was inconclusive. The diagnosis of Caffey's disease was made following a skeletal survey to outrule non-accidental injury, which showed similar changes of cortical thickening in the mandible as well as the affected tibia. CONCLUSIONS: With our increasing immigrant population, an increasing number of differential diagnoses must be considered when evaluating patients presenting to our emergency rooms. Caffey's disease is an unusual cause of bone pain in the infant. Symptoms and signs are subtle and the diagnosis is generally made with plain X-rays.


Assuntos
Hiperostose Cortical Congênita/diagnóstico , Feminino , Humanos , Úmero/diagnóstico por imagem , Hiperostose Cortical Congênita/diagnóstico por imagem , Lactente , Doenças Mandibulares/diagnóstico , Radiografia , Tíbia/diagnóstico por imagem , Ulna/diagnóstico por imagem
18.
J Laryngol Otol ; 121(3): 293-5, 2007 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-17164024

RESUMO

Traditionally, debulking of obstructing laryngeal tumours has been performed with cold steel instruments or CO2 lasers. With recent technological advances and increased availability of microdebriders, powered instrumentation for debulking laryngeal tumours has become a viable option. We describe the use of the Xomed laryngeal Tricut blade in re-establishing the airways in four patients with obstructing laryngeal tumours. In all cases a tracheostomy was avoided, thus allowing adequate time to stage each patient and tailor surgery to the individual.


Assuntos
Obstrução das Vias Respiratórias/etiologia , Neoplasias Laríngeas/complicações , Neoplasias Laríngeas/cirurgia , Idoso , Desbridamento/instrumentação , Desbridamento/métodos , Humanos , Laringoscopia , Masculino , Pessoa de Meia-Idade
19.
J Med Genet ; 43(6): 541-4, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16299064

RESUMO

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.


Assuntos
Anormalidades Múltiplas/diagnóstico , Ventrículos Cerebrais , Coristoma/diagnóstico , Constipação Intestinal/diagnóstico , Proteínas Contráteis/genética , Anormalidades Craniofaciais/diagnóstico , Proteínas dos Microfilamentos/genética , Splicing de RNA/genética , Anormalidades Múltiplas/genética , Adulto , Pré-Escolar , Coristoma/genética , Constipação Intestinal/genética , Proteínas Contráteis/metabolismo , Anormalidades Craniofaciais/genética , Análise Mutacional de DNA , Diagnóstico Diferencial , Feminino , Filaminas , Humanos , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Proteínas dos Microfilamentos/metabolismo , Síndrome
20.
Ir Med J ; 99(10): 311-2, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17274177

RESUMO

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.


Assuntos
Biópsia , Mucosa Bucal/patologia , Úlceras Orais/patologia , Pênfigo/patologia , Adulto , Imunofluorescência , Humanos , Imuno-Histoquímica , Masculino
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