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1.
Br J Surg ; 105(1): 68-74, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29265406

RESUMO

BACKGROUND: This study aimed to assess how the prevalence and growth rates of small and medium abdominal aortic aneurysms (AAAs) (3·0-5·4 cm) have changed over time in men aged 65 years, and to evaluate long-term outcomes in men whose aortic diameter is 2·6-2·9 cm (subaneurysmal), and below the standard threshold for most surveillance programmes. METHODS: The Gloucestershire Aneurysm Screening Programme (GASP) started in 1990. Men aged 65 years with an aortic diameter of 2·6-5·4 cm, measured by ultrasonography using the inner to inner wall method, were included in surveillance. Aortic diameter growth rates were estimated separately for men who initially had a subaneurysmal aorta, and those who had a small or medium AAA, using mixed-effects models. RESULTS: Since 1990, 81 150 men had ultrasound screening for AAA (uptake 80·7 per cent), of whom 2795 had an aortic diameter of 2·6-5·4 cm. The prevalence of screen-detected AAA of 3·0 cm or larger decreased from 5·0 per cent in 1991 to 1·3 per cent in 2015. There was no evidence of a change in AAA growth rates during this time. Of men who initially had a subaneurysmal aorta, 57·6 (95 per cent c.i. 54·4 to 60·7) per cent were estimated to develop an AAA of 3·0 cm or larger within 5 years of the initial scan, and 28·0 (24·2 to 31·8) per cent to develop a large AAA (at least 5·5 cm) within 15 years. CONCLUSION: The prevalence of screen-detected small and medium AAAs has decreased over the past 25 years, but growth rates have remained similar. Men with a subaneurysmal aorta at age 65 years have a substantial risk of developing a large AAA by the age of 80 years.


Assuntos
Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/epidemiologia , Programas de Rastreamento , Idoso , Aneurisma da Aorta Abdominal/patologia , Progressão da Doença , Seguimentos , Humanos , Masculino , Modelos Estatísticos , Prevalência , Ultrassonografia , Reino Unido/epidemiologia
2.
Osteoporos Int ; 27(8): 2459-66, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26968165

RESUMO

UNLABELLED: Whether infant vitamin D supplementation may have long-term bone benefits is unclear. In this study, breastfed infants who received vitamin dosages greater than 400 IU/day did not have higher bone mineralization at 3 years. This study provides important data to inform pediatric public health recommendations for vitamin D. INTRODUCTION: North American health agencies recommend breastfed infants should be supplemented with 400 IU of vitamin D/day to support bone health. Few studies examined the long-term benefits of early life vitamin D supplementation on bone mineralization. The objective of this study was to determine if a dose-response relationship exists between infant vitamin D supplementation, vitamin D status, and bone outcomes at 3 years of age. METHODS: This was a double-blind randomized trial of 132, 1-month-old healthy, breastfed infants from Montréal, Canada, between 2007 and 2010. In this longitudinal analysis, 87 infants (66 %) returned for follow-up at 3 years of age, between 2010 and 2013. At 1 month of age, participants were randomly assigned to receive oral cholecalciferol (vitamin D3) supplements of 400, 800, 1200, or 1600 IU/day until 12 months of age. Lumbar spine vertebrae 1-4 (LS) bone mineral density (BMD), LS and whole body bone mineral content (BMC), and mineral accretion were measured by dual-energy x-ray absorptiometry at 3 years. RESULTS: At follow-up, the treatment groups were similar in terms of diet, sun exposure, and demographics. There were no significant differences among the groups in LS or whole body BMC, BMD, or accretion. Although, 25(OH)D concentrations were not different among the groups, higher doses (1200 and 1600 IU/day) achieved higher 25(OH)D area under the curve from 1 to 36 months vs. 400 IU/day. CONCLUSIONS: This is the first longitudinal follow-up of an infant vitamin D dose-response study which examines bone mineralization at 3 years of age. Dosages higher than 400 IU/day do not appear to provide additional benefits to the bone at follow-up. Larger studies with more ethnically diverse groups are needed to confirm these results.


Assuntos
Densidade Óssea , Colecalciferol/administração & dosagem , Suplementos Nutricionais , Vitamina D/análogos & derivados , Aleitamento Materno , Canadá , Pré-Escolar , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Lactente , Masculino , Vitamina D/sangue
3.
Eur J Vasc Endovasc Surg ; 50(6): 732-6, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26371412

RESUMO

OBJECTIVE/BACKGROUND: Abdominal aortic aneurysm (AAA) screening in Gloucestershire has been ongoing for 25 years. The aim of this study was to review the outcome of a cohort of men with a large (> 5.4 cm) screen-detected AAA who did not have early intervention for their AAA. METHODS: A prospectively maintained database was interrogated for a 10-year interval from 2001 to 2011. Men who did not have their large AAA repaired within 3 months of the diagnosis were identified. The reasons for initial nonintervention and subsequent outcomes were identified from a combination of hospital case notes and general practitioner records. RESULTS: Of 334 men referred, 59 (median age 71 years, range 62-83 years) did not have intervention within 3 months (initial nonintervention rate 17.6%). The reasons included placed back on surveillance after assessment (n = 34); immediately discharged (n = 12); required further investigations (n = 5); died before complete assessment (n = 3); and incomplete follow-up (n = 5). Sixteen men had delayed AAA repair with no perioperative mortality. Overall mortality in the study was 14/34 (nine from ruptured AAA, the rest from medical conditions). Two further men survived repair of a ruptured AAA. The overall rate of ruptured AAA was 11/59 (18.6%). CONCLUSION: Information from studies such as these can be used to help plan treatment of men with a large AAA and to compare performance of vascular units.


Assuntos
Aorta Abdominal/diagnóstico por imagem , Aorta Abdominal/cirurgia , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/cirurgia , Programas de Rastreamento/métodos , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Conduta Expectante , Idoso , Idoso de 80 Anos ou mais , Aneurisma da Aorta Abdominal/mortalidade , Ruptura Aórtica/diagnóstico por imagem , Ruptura Aórtica/mortalidade , Ruptura Aórtica/cirurgia , Progressão da Doença , Inglaterra , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Valor Preditivo dos Testes , Prognóstico , Estudos Prospectivos , Encaminhamento e Consulta , Medição de Risco , Fatores de Risco , Fatores de Tempo , Tempo para o Tratamento , Ultrassonografia , Procedimentos Cirúrgicos Vasculares/mortalidade
4.
Osteoporos Int ; 25(2): 627-37, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23948876

RESUMO

UNLABELLED: Incident vertebral fractures and lumbar spine bone mineral density (BMD) were assessed in the 12 months following glucocorticoid initiation in 65 children with nephrotic syndrome. The incidence of vertebral fractures was low at 12 months (6 %) and most patients demonstrated recovery in BMD Z-scores by this time point. INTRODUCTION: Vertebral fracture (VF) incidence following glucocorticoid (GC) initiation has not been previously reported in pediatric nephrotic syndrome. METHODS: VF was assessed on radiographs (Genant method); lumbar spine bone mineral density (LS BMD) was evaluated by dual-energy X-ray absorptiometry. RESULTS: Sixty-five children were followed to 12 months post-GC initiation (median age, 5.4 years; range, 2.3-17.9). Three of 54 children with radiographs (6 %; 95 % confidence interval (CI), 2-15 %) had incident VF at 1 year. The mean LS BMD Z-score was below the healthy average at baseline (mean ± standard deviation (SD), -0.5 ± 1.1; p = 0.001) and at 3 months (-0.6 ± 1.1; p < 0.001), but not at 6 months (-0.3 ± 1.3; p = 0.066) or 12 months (-0.3 ± 1.2; p = 0.066). Mixed effect modeling showed a significant increase in LS BMD Z-scores between 3 and 12 months (0.22 SD; 95 % CI, 0.08 to 0.36; p = 0.003). A subgroup (N = 16; 25 %) had LS BMD Z-scores that were ≤-1.0 at 12 months. In these children, each additional 1,000 mg/m(2) of GC received in the first 3 months was associated with a decrease in LS BMD Z-score by 0.39 at 12 months (95 % CI, -0.71 to -0.07; p = 0.017). CONCLUSIONS: The incidence of VF at 1 year was low and LS BMD Z-scores improved by 12 months in the majority. Twenty-five percent of children had LS BMD Z-scores ≤-1.0 at 12 months. In these children, LS BMD Z-scores were inversely associated with early GC exposure, despite similar GC exposure compared to the rest of the cohort.


Assuntos
Glucocorticoides/efeitos adversos , Síndrome Nefrótica/tratamento farmacológico , Fraturas por Osteoporose/induzido quimicamente , Fraturas da Coluna Vertebral/induzido quimicamente , Adolescente , Antropometria/métodos , Densidade Óssea/efeitos dos fármacos , Criança , Pré-Escolar , Relação Dose-Resposta a Droga , Feminino , Seguimentos , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Lactente , Vértebras Lombares/fisiopatologia , Masculino , Síndrome Nefrótica/fisiopatologia , Osteoporose/induzido quimicamente , Fraturas por Osteoporose/fisiopatologia , Fraturas da Coluna Vertebral/fisiopatologia
5.
Osteoporos Int ; 24(3): 999-1006, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22744715

RESUMO

UNLABELLED: Bone mineral content (BMC) is known to be greater in the dominant arm after the age of 8 years. We studied a group of children and found that BMC sidedness gradually increased up to the age of 6 years and then remained stable into late adolescence. INTRODUCTION: Bone mineral content (BMC) exhibits sidedness in the arms after the age of 8 years, but it is not known whether BMC is greater in the dominant arm from birth or whether lateralization develops in early childhood. To address this, we examined bone mineral status in relation to handedness and age. METHODS: Subjects (N = 158) were children recently initiating glucocorticoids for underlying disease (leukemia 43 %, rheumatic conditions 39 %, nephrotic syndrome 18 %). Handedness was determined by questionnaire and BMC by dual-energy X-ray absorptiometry. RESULTS: Median age was 7.2 years (range, 1.5 to 17.0 years), 49 % was male, and the spine BMD Z-score was -0.9 (SD, 1.3). By linear regression, BMC sidedness in the arms was significantly related to age (r = 0.294, p = 0.0005). Breakpoint analysis revealed two lines with a knot at 6.0 years (95 % CI, 4.5-7.5 years). The formula for the first line was: dominant:nondominant arm BMC ratio = 0.029 × age [in years] + 0.850 (r = 0.323, p = 0.017). The slope of the second line was not different from 0 (p = 0.332), while the slopes for the two lines were significantly different (p = 0.027). CONCLUSIONS: These results show that arm BMC sidedness in this patient group develops up to age 6 years and then remains stable into late adolescence. This temporal profile is consistent with mechanical stimulation of the skeleton in response to asymmetrical muscle use as handedness becomes manifest.


Assuntos
Envelhecimento/fisiologia , Ossos do Braço/fisiologia , Densidade Óssea/fisiologia , Lateralidade Funcional/fisiologia , Absorciometria de Fóton/métodos , Adolescente , Composição Corporal/fisiologia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Ossos da Perna/fisiologia , Masculino
6.
Osteoporos Int ; 23(2): 751-60, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21494860

RESUMO

SUMMARY: Eighty children with nephrotic syndrome underwent lumbar spine densitometry and vertebral morphometry soon after glucocorticoid initiation. We found an inverse relationship between glucocorticoid exposure and spine areal bone mineral density (BMD) Z-score and a low rate of vertebral deformities (8%). INTRODUCTION: Vertebral fractures are an under-recognized complication of childhood glucocorticoid-treated illnesses. Our goal was to study the relationships among glucocorticoid exposure, lumbar spine areal BMD (LS BMD), and vertebral shape in glucocorticoid-treated children with new-onset nephrotic syndrome. METHODS: Lateral thoracolumbar spine radiography and LS BMD were performed in 80 children with nephrotic syndrome (median age 4.4 years; 46 boys) within the first 37 days of glucocorticoid therapy. Genant semiquantitative grading was used as the primary method for vertebral morphometry; the algorithm-based qualitative (ABQ) method was used for secondary vertebral deformity analysis. RESULTS: Six of the 78 children with usable radiographs (8%; 95% confidence interval 4 to 16%) manifested a single Genant grade 1 deformity each. All deformities were mild anterior wedging (two at each of T6, T7, and T8). Four of the 78 children (5%; 95% confidence interval 2 to 13%) showed one ABQ sign of fracture each (loss of endplate parallelism; two children at T6 and two at T8). Two of the children with ABQ signs also had a Genant grade 1 deformity in the same vertebral body. None of the children with a Genant or ABQ deformity reported back pain. An inverse relationship was identified between LS BMD Z-score and glucocorticoid exposure. CONCLUSIONS: Although we identified an inverse relationship between steroid exposure and LS BMD soon after glucocorticoid initiation for childhood nephrotic syndrome, there was only a low rate of vertebral deformities. The clinical significance of these findings requires further study.


Assuntos
Glucocorticoides/efeitos adversos , Síndrome Nefrótica/tratamento farmacológico , Curvaturas da Coluna Vertebral/induzido quimicamente , Absorciometria de Fóton/métodos , Adolescente , Antropometria/métodos , Dor nas Costas/induzido quimicamente , Densidade Óssea/efeitos dos fármacos , Criança , Pré-Escolar , Esquema de Medicação , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/uso terapêutico , Humanos , Lactente , Vértebras Lombares/fisiopatologia , Masculino , Síndrome Nefrótica/fisiopatologia , Curvaturas da Coluna Vertebral/diagnóstico por imagem , Curvaturas da Coluna Vertebral/fisiopatologia , Fraturas da Coluna Vertebral/induzido quimicamente , Fraturas da Coluna Vertebral/diagnóstico por imagem , Fraturas da Coluna Vertebral/fisiopatologia , Vértebras Torácicas/diagnóstico por imagem
7.
Eur J Vasc Endovasc Surg ; 41(2): 175-85, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21130007

RESUMO

OBJECTIVE: To determine the proportion of TAAAs which might be suitable for pure endovascular repair based on aneurysm morphology and to develop an MDCTA based scoring system to grade case complexity. DESIGN: 70 consecutive MDCTA of patients with TAAAs were analysed in relation to specific morphological characteristics. METHODS: The characteristics included potential stent landing zone lengths, arch angulation, thoraco-abdominal aorta angulation, branch vessel origin stenosis, access tortuosity/diameter and aortic dissection. RESULTS: 60% of TAAAs would be suitable for branched/fenestrated stent grafting but 40% are unsuitable due to adverse anatomy. 27% had an aortic arch angulation of ≤ 110° and 24% had descending thoracic aorta angulation of ≤ 90°. Significant ostial stenosis was identified in 31% of celiac arteries, 7% superior mesenteric arteries, 24% left renal artery and 19% right renal arteries. 11% of left common iliac and 7% right common iliac arteries had angulation of ≤ 70°. There were 26 cases with aortic dissection and 54% of these had a true lumen of ≤ 26 mm. CONCLUSION: Successful fenestrated/branched stent graft repair of TAAAs requires adequate landing zones, cannulation of visceral arteries and suitable diameter access vessels. 60% of TAAAs studied were suitable for branched/fenestrated stent graft repair but 40% of TAAAs were unsuitable; aortic angulation, visceral vessel ostial stenosis and dissection true lumen diameter were the principle issues. Development in stent technology may address these anatomical challenges.


Assuntos
Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/cirurgia , Aortografia/métodos , Implante de Prótese Vascular/instrumentação , Prótese Vascular , Técnicas de Apoio para a Decisão , Procedimentos Endovasculares/instrumentação , Stents , Tomografia Computadorizada por Raios X , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Artéria Ilíaca/diagnóstico por imagem , Londres , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Valor Preditivo dos Testes , Desenho de Prótese , Estudos Retrospectivos
8.
Int J Surg ; 57: 60-65, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29653248

RESUMO

INTRODUCTION: The transition to surgical training can be a stressful time for trainees and is most evident during national handover periods where new graduates start and senior trainees rotate to new programmes. During this time, patient mortality can increase and Hospital efficiency reduces. This influence is compounded by the impact of working time directives. Intensive, simulation rich training programmes or "Boot Camps" have been postulated as a solution. This article highlights the development of a surgical boot camp for novice surgical trainees and the impact this can have on training. METHOD: A novel surgical boot camp was developed for all trainees within a surgical training region including nine acute NHS trusts. Participating cohort of trainees completed pre and post course questionnaires to assess technical and non-technical skills. RESULTS: 25 trainees attended and completed the pre and post boot camp questionnaire. Significant improvements were seen with technical skills (p = 0.0429), overall non-technical skills (p < 0.001) including leadership (p = 0.022), communication (p = 0.010), situational awareness (p = 0.022), patient handover (p = 0.003), ward round skills (p = 0.005) and outpatient skill (p = 0.002). Trainees reported significantly increased ability to assess and manage a critically unwell patient (p = 0.001) and a trauma patient (p = 0.001). 96% of trainees have utilised the skills they learnt on Boot Camp and all trainees would recommend it as an induction programme. CONCLUSION: Surgical Boot Camps offer a timely chance to develop technical and non-technical skills whilst enhancing a trainee's confidence and knowledge and reduce the patient safety impact of the handover period.


Assuntos
Competência Clínica , Treinamento por Simulação/métodos , Cirurgiões/educação , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Avaliação de Programas e Projetos de Saúde , Cirurgiões/psicologia
9.
J Clin Invest ; 100(6): 1634-9, 1997 Sep 15.
Artigo em Inglês | MEDLINE | ID: mdl-9294132

RESUMO

Activating somatic mutations in the thyrotropin (TSH) receptor have been identified as a cause of hyperfunctioning thyroid adenomas, and germline mutations have been found in familial nonautoimmune hyperthyroidism and sporadic congenital hyperthyroidism. All mutations reported to date have been located in the transmembrane domain. We now report an example of an activating mutation in the extracellular, TSH-binding domain, found in a male infant with congenital hyperthyroidism due to a toxic adenoma. The pregnancy was remarkable for fetal tachycardia. Scintigraphic studies demonstrated a large nodule in the right lobe, and a hemithyroidectomy was performed at the age of 2 yr. Direct sequencing of the TSH receptor gene revealed a mutation in one allele resulting in a substitution of serine281 by isoleucine (Ser281--> Ile) in the extracellular domain. The mutation was restricted to the adenomatous tissue. Expression of the Ser281--> Ile mutation in vitro revealed an increase in basal cAMP levels. Affinity for TSH was increased by the mutation. These findings demonstrate that activating mutations can also occur in the extracellular domain of the TSH receptor, and support a model in which the extracellular domain serves to restrain receptor function in the absence of TSH or antibody-induced conformational changes.


Assuntos
Adenoma/genética , Hipertireoidismo/genética , Isoleucina/genética , Receptores da Tireotropina/genética , Serina/genética , Neoplasias da Glândula Tireoide/genética , Adenoma/diagnóstico por imagem , Adenoma/parasitologia , Células Cultivadas , AMP Cíclico/metabolismo , Humanos , Recém-Nascido , Masculino , Mutação , Cintilografia , Compostos de Tecnécio , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia , Tireotropina/farmacologia , Transfecção , Ultrassonografia
10.
Pediatr Obes ; 12(1): 38-47, 2017 02.
Artigo em Inglês | MEDLINE | ID: mdl-26843140

RESUMO

BACKGROUND: The impact of vitamin D status on body composition is not well understood. OBJECTIVES: Evaluate how vitamin D supplementation in infancy affects body composition at 3 years of age. METHODS: Double-blind randomized trial of 132, 1-month-old healthy, breastfed infants randomly assigned to receive oral vitamin D3 supplements of 400, 800, 1200 or 1600 IU d-1 for 11 months. In the present analysis, 87 (66%) returned at 3 years of age. Body composition was measured using dual-energy x-ray absorptiometry and plasma 25-hydroxyvitamin D [25(OH)D] concentrations by liquid chromatography tandem mass spectrometry. RESULTS: Anthropometry, body composition, diet, activity and demographics were similar across dosage groups at 3 years. Mean 25(OH)D concentration from 1 month to 3 years was higher (P < 0.001) in the 1200 IU group than 800 and 400 IU groups. Children with 25(OH)D concentrations above 75 nmol L-1 had lower fat mass (~450 g; P = 0.049). In multiple linear regression, mean 25(OH)D was associated with lean mass percent (ß = 0.06; CI: 0.00, 0.12; P = 0.042), fat mass (ß = -11.29; CI: -22.06, -0.52; P = 0.048) and body fat percent (ß = -0.06; CI: -0.12, -0.01; P = 0.045). CONCLUSIONS: Higher vitamin D status from infancy through to 3 years of age associates with leaner body composition.


Assuntos
Composição Corporal/efeitos dos fármacos , Colecalciferol/uso terapêutico , Absorciometria de Fóton , Antropometria , Canadá , Pré-Escolar , Cromatografia Líquida , Suplementos Nutricionais , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Lactente , Masculino , Espectrometria de Massas , Estudos Prospectivos , Vitamina D/análogos & derivados , Vitamina D/sangue
11.
Acta Chir Belg ; 106(4): 458-66, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-17017709

RESUMO

ascular surgery is a challenging discipline and complex aneurysms can present an entire range of technical difficulties. To overcome these problems good technical skills are mandatory. However, it is also worth remembering a few basic rules: The simplest solution is often the best. All cases need careful planning, including that of the approach. A successful anastomosis requires good aortic tissue. Minimal dissection reduces morbidity.


Assuntos
Aneurisma da Aorta Abdominal/cirurgia , Anastomose Cirúrgica/métodos , Aneurisma Roto/cirurgia , Aneurisma da Aorta Abdominal/patologia , Arterite/cirurgia , Implante de Prótese Vascular , Feminino , Hemostasia Cirúrgica/métodos , Humanos , Aneurisma Ilíaco/cirurgia , Rim/anormalidades , Masculino , Veias Mesentéricas/patologia , Pessoa de Meia-Idade , Artéria Renal/patologia , Veias Renais/patologia , Fatores de Risco , Veia Cava Inferior/anormalidades
12.
Endocrinology ; 131(6): 2559-64, 1992 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-1446599

RESUMO

We have determined the contribution of the thyroid hormone receptor (TR) isoforms TR alpha 1 and TR beta 1 to the postnatal rise in rat hepatic nuclear T3-binding capacity. In agreement with previous studies, total hepatic nuclear binding capacity rose by about 8-fold from the 19th day of gestation to young adulthood at 2 months of age (0.10 +/- 0.03 to 0.86 +/- 0.17 pmol/mg DNA). The levels of specific TR species were measured by immunoprecipitation of T3-binding activity from hepatic extracts using a panel of antisera directed against specific regions of the TR isoforms. The difference between receptor immunoprecipitated with antibody against TR beta 1 and that precipitated with an antibody against an identical region in both TR beta 1 and TR alpha 1 was tentatively assumed to represent TR alpha 1. TR alpha 1 accounted for virtually all T3-binding activity in fetal liver on gestational day 19 (G19), increased by 2-fold shortly after birth, and remained constant thereafter. TR alpha 1 mRNA, on the other hand, was highest in concentration on G16 and fell by 50-75% in the adult. TR beta 1 was undetectable by immunoprecipitation of hepatic extracts from fetuses on G19. However, Northern analysis showed the presence of TR beta 1 mRNA in the fetal liver, which rose in concentration by 3- to 4-fold in late gestation and then remained constant. The contribution of TR beta 1 to total binding capacity rose to 33% and 40% on postnatal days 15 and 30, respectively, and to 80% in the adult liver. Immunohistochemical analyses of hepatic sections confirmed the presence of very low levels of TR beta 1 in fetal liver as early as G16 and G19, and a sharp rise in TR beta 1 protein concentration in the postnatal period. This indicated that the increase in TR beta 1-binding capacity results from increased TR beta 1 mass. The increase in TR beta 1-binding capacity, thus, is due to increased translational efficiency of the beta 1 mRNA or stabilization of the TR beta 1 protein. The prominence of TR alpha 1 in both rat fetal liver and fetal brain, as previously demonstrated in our laboratory, raises the possibility that this receptor isoform may carry out specialized functions in the fetus and that TR beta 1 subserves still other functions at later stages of development.(ABSTRACT TRUNCATED AT 400 WORDS)


Assuntos
Núcleo Celular/química , Fígado/ultraestrutura , Receptores dos Hormônios Tireóideos/análise , Envelhecimento , Animais , Northern Blotting , Encéfalo/embriologia , Encéfalo/ultraestrutura , Imunofluorescência , Idade Gestacional , Imuno-Histoquímica , Técnicas de Imunoadsorção , Fígado/embriologia , Masculino , Ratos , Ratos Sprague-Dawley , Receptores dos Hormônios Tireóideos/metabolismo , Tri-Iodotironina/metabolismo
13.
J Clin Endocrinol Metab ; 84(7): 2502-6, 1999 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10404827

RESUMO

Permanent primary congenital hypothyroidism (CH) can be caused by abnormal thyroid differentiation (athyreosis), migration (ectopy), or function (leading to goiter). Goiters follow an autosomal recessive pattern of inheritance, whereas ectopy and athyreosis are considered as a single sporadic entity with a female preponderance. On the other hand, a high prevalence of extrathyroidal malformations has been reported in CH, but without linking specific defects to specific types of CH. On the basis of TSH screening, 273 newborns were referred to an academic pediatric endocrinology clinic in the province of Quebec between 1988 and 1997. Of 230 patients with permanent primary CH who had scintigraphy at diagnosis, 141 had ectopy (104 girls), 36 had athyreosis (21 girls), 42 had goiter (18 girls), 10 (3 girls) had a normal scan, and 1 girl had hemiagenesis. Only in the ectopies was the proportion of girls significantly higher than 0.5 (P<0.001). Isolated cardiac malformations were observed in 7 patients (3.0%), a prevalence 5-fold higher than that in the general population; this was largely due to atrial and ventricular septal defects, which were only observed in ectopy and athyreosis. Our data suggest that the molecular mechanisms that lead to complete absence of thyroid differentiation or defective thyroid migration 1) may be similar, but are modulated by the genetic makeup of the embryo and/or the hormonal milieu of the fetus; and 2) may also be involved in septation of the embryonic heart.


Assuntos
Hipotireoidismo Congênito , Hipotireoidismo/genética , Proteínas Nucleares , Caracteres Sexuais , Glândula Tireoide/anormalidades , Anormalidades Múltiplas , Fatores de Transcrição Hélice-Alça-Hélice Básicos , Proteínas de Ligação a DNA/genética , Feminino , Fatores de Transcrição Forkhead , Proteínas de Homeodomínio/genética , Humanos , Hipotireoidismo/etiologia , Recém-Nascido , Masculino , Mutação , Fator de Transcrição PAX8 , Fatores de Transcrição Box Pareados , Cintilografia , Proteínas Repressoras/genética , Glândula Tireoide/diagnóstico por imagem , Hormônios Tireóideos/sangue , Transativadores/genética , Fatores de Transcrição HES-1
14.
Pediatr Clin North Am ; 40(1): 149-64, 1993 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-8417403

RESUMO

Hypertension in children is not a common problem. When it is found, however, a pathologic cause can often be identified. The endocrine causes of hypertension in children are generally rare. We have reviewed the diverse and rare endocrine causes of hypertension in the pediatric population. Table 3 lists features of these conditions that assist in their diagnosis. In all patients with hypertension, a thorough history and physical examination may point to the diagnosis of endocrine or other causes of secondary hypertension. For a more detailed approach to these diagnoses, other reviews may be helpful. A phased laboratory evaluation similar to that suggested by Ogborn and Crocker facilitates in the evaluation of secondary hypertension. The critical screening tests from an endocrine point of view are plasma sodium, potassium, calcium, renin activity, and thyroid function tests, including T4, T3, and thyroid stimulating hormone. Measurement of a 24-hour urine collection for aldosterone, metanephrine, and catecholamines may be warranted if the previously mentioned studies are unrevealing. More specific studies also may be suggested by these preliminary evaluations and the history and physical examination. Further investigations should be done with the additional guidance of a pediatric endocrinologist.


Assuntos
Doenças do Sistema Endócrino/complicações , Hipertensão/etiologia , Adolescente , Doenças do Córtex Suprarrenal/complicações , Criança , Humanos
15.
Perit Dial Int ; 21 Suppl 3: S256-60, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11887832

RESUMO

Bisphosphonates are an old class of compounds. They were used in the 1930s as antiscaling and anticorrosion agents in washing powders and water to prevent the deposition of calcium crystals. Those basic functions were later utilized in an attempt to prevent ectopic calcifications in humans. The early studies demonstrated that bisphosphonates had a strong affinity for bone. That property was first exploited when the compounds were used for "bone scans." Currently, the drugs are used for treatment of hypercalcemic conditions, abnormal bone remodelling, Paget disease, malignancy, and osteoporosis. Bisphosphonates have several important toxicities: acute renal failure, worsening renal function, reduced bone mineralization, and osteomalacia. For those reasons and others, this class of drugs has not yet been approved for use in children or in patients with severe renal insufficiency. The present review covers several aspects of bisphosphonates: molecular structure, routes of administration, pharmacology, mechanisms of action, toxicities, and exceptional uses in children with renal disease.


Assuntos
Difosfonatos/uso terapêutico , Transplante de Rim , Diálise Peritoneal , Densidade Óssea , Distúrbio Mineral e Ósseo na Doença Renal Crônica/tratamento farmacológico , Difosfonatos/efeitos adversos , Difosfonatos/farmacocinética , Humanos , Hipercalcemia/tratamento farmacológico , Hipercalcemia/etiologia , Transplante de Rim/efeitos adversos , Diálise Renal
16.
J Pediatr Endocrinol Metab ; 11(2): 273-6, 1998.
Artigo em Inglês | MEDLINE | ID: mdl-9642643

RESUMO

DiGeorge syndrome or anomaly consists of a developmental field defect which is characterized by congenital absence or hypoplasia of the thymus and parathyroids, as well as facial dysmorphism and congenital heart defects. Other congenital malformations may coexist, in particular, thyroid abnormalities. A case of congenital hypothyroidism and DiGeorge syndrome is reviewed. Necropsy, clinical, and experimental studies also show that thyroid abnormalities may be a feature of DiGeorge syndrome. Although this could be purely coincidental, our case suggests that thyroid gland dysgenesis may be more common than previously thought. Thus, children with the DiGeorge syndrome may be at higher risk for hypothyroidism. Because of this potential association, patients who are considered to have this anomaly should have early newborn thyroid screening.


Assuntos
Síndrome de DiGeorge/complicações , Glândula Tireoide/anormalidades , Adulto , Hipotireoidismo Congênito , Síndrome de DiGeorge/patologia , Feminino , Humanos , Hipotireoidismo/complicações , Recém-Nascido , Triagem Neonatal
17.
J Pediatr Endocrinol Metab ; 14(6): 749-56, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11453525

RESUMO

OBJECTIVE: As multinodular goiter (MNG) is an uncommon pediatric disorder, we decided to evaluate the children with this diagnosis at our center to try to delineate better its etiology, the risk of malignancy and appropriate management strategies. METHODS AND RESULTS: Eighteen patients (12 girls and 6 boys) were the subject of this retrospective review spanning a period of 20 years. All were previously well, except one, and none had had head or neck irradiation. Average age at diagnosis was 12.8 years. Four children belonged to two previously identified kindreds diagnosed with familial MNG. These families had members affected with multiple cases of non-medullary thyroid carcinoma (NMTC). All were euthyroid and had no symptoms. In eight of 18 patients, the clinical examination missed the presence of multiple nodules which were subsequently detected by ultrasound. Twelve patients had tissue diagnosis by fine needle aspirate cytology (FNAC) or surgery. Five of eight patients undergoing surgery had nodular hyperplasia, one had a follicular adenoma and one had a normal thyroid gland on histology. There was one patient with papillary carcinoma combined with nodular hyperplasia. Seven of the patients had evidence of antithyroid autoimmunity. CONCLUSION: The etiology of pediatric MNG appears multifactorial including autoimmune and familial factors. We believe that previously healthy children can usually be managed conservatively. Ultrasound at the time of diagnosis and in follow up seems beneficial. Familial forms appear to warrant close follow up, given the apparent increased risk of malignancy. The risk of malignancy while low remains real.


Assuntos
Bócio Nodular/etiologia , Bócio Nodular/terapia , Neoplasias da Glândula Tireoide/etiologia , Adenoma/etiologia , Adolescente , Carcinoma Papilar/etiologia , Criança , Feminino , Seguimentos , Bócio Nodular/complicações , Bócio Nodular/genética , Humanos , Masculino , Fatores de Risco , Tireoidectomia , Ultrassonografia
18.
J Pediatr Surg ; 33(6): 866-70, 1998 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9660217

RESUMO

BACKGROUND/PURPOSE: Cystic lesions of the thyroid encompass a wide and heterogeneous group of disease states in children, ranging from benign purely cystic entities to malignant tumors. The purpose of this study was to study both the presentation and management of cystic thyroid lesions in the pediatric population. METHODS: A retrospective review of all thyroid masses presenting between 1978 and 1996 and found to be purely or partially cystic on ultrasound examination was conducted, looking at presentation, family history, laboratory values, ultrasound scan and radionuclide imaging, and pathological and cytological evaluation. RESULTS: Twenty-four patients (19 girls, 5 boys) aged 6 to 18 years received the diagnosis of cystic lesions of the thyroid. Of these, 23 presented with painless neck masses, 21 were clinically euthyroid, only one had a single abnormal thyroid function test, only two had mildly positive antithyroid antibody test results, and nearly 30% had a positive family history of thyroid disease. Ultrasonography showed pure cysts in five patients and mixed solid cystic lesions in 19 patients. On scintiscan, six lesions were hot, 13 were cold, three showed normal uptake, and two were mixed. Treatment included either observation, aspiration, cyst sclerosis, surgery, or combinations thereof. Pathological and cytological results included follicular adenoma (n = 9), cystic degeneration (n = 6), multinodular goiter (n = 4), carcinoma (n = 2), branchial cleft cyst (n = 1), and undetermined (n = 2). CONCLUSIONS: Thyroid cysts are often thought to represent benign degenerative disease. Our study, which is the first in the literature to specifically address thyroid cysts in children, shows that ultrasound scan is useful in evaluating thyroid masses, whereas laboratory and radionuclide are of less value, and that single lesions of mixed echogeneity are likely to represent neoplasms, a significant percentage of which are malignant.


Assuntos
Doenças da Glândula Tireoide/diagnóstico , Adolescente , Criança , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Doenças da Glândula Tireoide/diagnóstico por imagem , Doenças da Glândula Tireoide/terapia , Ultrassonografia
19.
J Laryngol Otol ; 106(2): 173-7, 1992 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-1556497

RESUMO

Malakoplakia presenting in the head and neck is very rare. We present a case of an inflammatory mass in the neck, clinically mimicking actinomycosis in a 67-year-old man. Repeated culture of E. coli and histological and electron microscopic examination of biopsy material showed an infiltration of granular macrophages and intracellular gram negative bacilli, but no classical Michaelis-Gutmann bodies. The clinical and pathological findings and criteria for the diagnosis of malakoplakia are discussed.


Assuntos
Malacoplasia/diagnóstico , Idoso , Infecções por Escherichia coli/complicações , Infecções por Escherichia coli/diagnóstico , Humanos , Malacoplasia/complicações , Malacoplasia/patologia , Masculino , Pescoço
20.
Eur J Vasc Endovasc Surg ; 31(5): 530-4, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16427332

RESUMO

OBJECTIVES: To describe a series of venous surgical procedures performed to maintain vascular access. METHODS: We report eight patients with end-stage renal failure (ESRF) who had complex renal access problems. Three patients had central venous occlusion and underwent veno-venous axillo-iliac bypass. In five further patients with a symptomatic central venous obstruction we performed axillo-iliac arterio-venous grafting (AVGs) in order to achieve haemodialysis access. All patients were assessed pre-operatively with duplex ultrasound and venogram of upper and lower limbs. The axillary artery or vein, and iliac vein were approached via infraclavicular and extra-peritoneal groin incisions, respectively. Non-externally-supported polytetrafluoroethylene (PTFE) was used as a conduit in all patients and anti-coagulation regimen were commenced post-operatively. RESULTS: Following venous diversion surgery, there was a dramatic improvement in the facial and limb swelling experienced by the patients. There was no significant peri-operative morbidity. The veno-venous graft is still patent at 14 months in patient one, at 10 months in patient two, and 5 months in patient three. In the second group, who had arterio-venous grafts, the mean follow-up was 13.2 (7-20) months with a secondary patency rate of 80% at 6 months. Four patients had patent, usable grafts at 12 months. In two cases, graft occlusion was treated with successful thrombectomy. CONCLUSION: Axillary-iliac veno-venous diversion can overcome the symptoms and complications of superior vena cava and innominate vein obstruction. Although, axillo-iliac arterio-venous graft fistulae formation was previously described it has not been widely used. We have found the procedure to have low morbidity and advocate its use in these complex cases.


Assuntos
Derivação Arteriovenosa Cirúrgica/métodos , Artéria Axilar/cirurgia , Cateteres de Demora , Veia Ilíaca/cirurgia , Falência Renal Crônica/terapia , Diálise Renal , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Humanos , Falência Renal Crônica/complicações , Doenças Vasculares Periféricas/complicações , Doenças Vasculares Periféricas/cirurgia
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