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1.
Mar Pollut Bull ; 171: 112704, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34298328

RESUMO

Loss of sediment and particulate nutrients in runoff from the extensive grazing lands of the Fitzroy Basin, central Queensland, continue to contribute to the declining health of the Great Barrier Reef. This study measured differences in hydrology and water quality from conservative and heavy grazing pressures on rundown improved grass pastures in the Fitzroy Basin. Conservative grazing pressure was defined as the safe long-term carrying capacity for rundown buffel grass pasture, whereas heavy grazing pressure was defined as the recommended stocking rate for newly established buffel grass pasture. Heavy grazing of rundown pasture resulted in 2.5 times more bare ground and only 8% of the pasture biomass compared to conservative grazing. Heavy grazing also resulted in 3.6 times more total runoff and 3.3 times the peak runoff rate compared to conservative grazing. Loads of total suspended solids, nitrogen and phosphorus in runoff were also greater from heavy than conservative grazing.


Assuntos
Nitrogênio , Fósforo , Austrália , Nitrogênio/análise , Fósforo/análise , Poaceae , Queensland
2.
Br J Cancer ; 96(4): 667-76, 2007 Feb 26.
Artigo em Inglês | MEDLINE | ID: mdl-17285132

RESUMO

Malignant germ cell tumours (MGCTs) of childhood are a rare group of neoplasms that comprise many histological subtypes and arise at numerous different sites. Genomic imbalances have been described in these tumours but, largely because of the paucity of cases reported in the literature, it is unclear how they relate to abnormalities in adult MGCTs and impact on potential systems for classifying GCTs. We have used metaphase-based comparative genomic hybridisation to analyse the largest series of paediatric MGCTs reported to date, representing 34 primary tumours (22 yolk sac tumours (YSTs), 11 germinomatous tumours and one metastatic embryonal carcinoma) occurring in children from birth to age 16, including 17 ovarian MGCTs. The large dataset enabled us to undertake statistical analysis, with the aim of identifying associations worthy of further investigation between patterns of genomic imbalance and clinicopathological parameters. The YSTs showed an increased frequency of 1p- (P=0.003), 3p+ (P=0.02), 4q- (P=0.07) and 6q- (P=0.004) compared to germinomatous tumours. Gain of 12p, which is invariably seen in adult MGCTs, was present in 53% of primary MGCTs of children aged 5-16 and was also observed in four of 14 YSTs affecting children less than 5. Two of these cases (14% of MGCTs in children less than 5) showed gain of the 12p11 locus considered to be particularly relevant in adult MGCTs. Gain of 12p showed a significant association with gain of 12q. Conversely, MGCTs without 12p gain displayed a significantly increased frequency of loss on 16p (P=0.04), suggesting that this imbalance may contribute to tumour development in such cases. This data provides new insight into the biology of this under-investigated tumour group and will direct future studies on the significance of specific genetic abnormalities.


Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 12/genética , Neoplasias Embrionárias de Células Germinativas/genética , Adolescente , Criança , Pré-Escolar , Seguimentos , Humanos , Lactente , Recém-Nascido , Estadiamento de Neoplasias , Neoplasias Embrionárias de Células Germinativas/classificação , Neoplasias Embrionárias de Células Germinativas/diagnóstico
3.
Xenobiotica ; 34(2): 193-213, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14985147

RESUMO

1. 14C-1,3-dichloropropene (14C-DCP) is rapidly absorbed and eliminated in both the male F344 rat and B6C3F1 mouse following oral administration of 1 or 50 mg kg(-1) (rat) or 1 or 100 mg kg(-1) (mouse). 2. It is extensively metabolized in both species. Urinary excretion was the major route of elimination, accounting for 50.9-61.3 and 62.5-78.6% of the administered dose in rat and mouse, respectively. 3. Urinary elimination half-lives ranged from 5 to 6 h (rat) and from 7 to 10 h (mouse). Elimination via faeces or as 14CO2 accounted for 14.5-20.5 and 13.7-17.6% of the administered dose, respectively. 4. Metabolites arising from glutathione conjugation account for 36-55 and 48-50% of the administered dose in excreted from rats and mice, respectively. Hydrolysis of the 3-chloro moiety of DCP accounted for 24-37 and 29% of the dose administered to rats and mice, respectively. Two novel dimercapturic acid conjugates were also identified at low levels that might arise via initial hydrolysis of DCP or of epoxidation of DCP-glutathione conjugate or of DCP itself. Structural confirmation of these dimercapturates was obtained via analysis of deuterium retention from D4-DCP in the male F344 rat. 5. Only quantitative differences are seen between the overall metabolic profile of DCP in these two species.


Assuntos
Compostos Alílicos/metabolismo , Compostos Alílicos/farmacocinética , Animais , Biotransformação , Cromatografia Líquida de Alta Pressão , Relação Dose-Resposta a Droga , Fezes/química , Meia-Vida , Hidrocarbonetos Clorados , Indicadores e Reagentes , Masculino , Camundongos , Camundongos Endogâmicos , Ratos , Ratos Endogâmicos F344 , Espectrometria de Massas por Ionização por Electrospray , Estereoisomerismo , Distribuição Tecidual
4.
Toxicol Sci ; 77(2): 230-42, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14691203

RESUMO

Previous studies demonstrated the rapid clearance of bisphenol A (BPA) from blood following oral administration to adult rats with the principal metabolite being BPA-monoglucuronide (BPA-glucuronide). Since the ontogeny of glucuronyl transferases (GT) differs with age, the pharmacokinetics of BPA were studied in neonatal animals. (14)C-BPA was administered via gavage at 1 or 10 mg/kg body weight to rats at postnatal day (pnd) 4, pnd 7, pnd 21, or to 11 week old adult rats (10 mg/kg dose only). Blood (neonates and adults) and selected tissues (neonates) were collected at 0.25, 0.75, 1.5, 3, 6, 12, 18, and 24 h postdosing. BPA and BPA-glucuronide in the plasma were quantified by high-performance liquid chromatography; radioactivity in the plasma and tissues was quantified by liquid scintillation spectrometry. The data indicate that neonatal rats at all three ages metabolized BPA to BPA-glucuronide, although an age dependency in the number and concentration of plasma metabolites was observed, consistent with the ontogeny of GT. BPA-glucuronide and BPA concentrations in the plasma were greater in neonates than in adults, except at 24 h postdosing, suggesting an immaturity in the development of hepatic excretory function in neonatal rats. Nevertheless, the half-lives for the elimination of BPA-glucuronide in plasma were more rapid in neonatal animals than in adults, likely due to reduced microflora beta-glucuronidase activity and an absence of enterohepatic recirculation. A dose dependency in the metabolism and pharmacokinetics of BPA administered to neonates was also observed with nearly complete metabolism of BPA to BPA-glucuronide (94-100% of the plasma radioactivity) at a dose of 1 mg/kg. This was in contrast to finding up to 13 different plasma metabolites observed at the 10 mg/kg dose. These data indicate that, from early in neonatal life through pnd 21, there is sufficient GT activity in rats to efficiently metabolize BPA to its nonestrogenic metabolite at low doses.


Assuntos
Estrogênios não Esteroides/farmacocinética , Fenóis/farmacocinética , Administração Oral , Fatores Etários , Animais , Animais Recém-Nascidos , Área Sob a Curva , Compostos Benzidrílicos , Radioisótopos de Carbono , Embrião de Galinha , Relação Dose-Resposta a Droga , Estrogênios não Esteroides/sangue , Feminino , Glucuronídeos/sangue , Glucuronídeos/metabolismo , Glucuronosiltransferase/metabolismo , Masculino , Fenóis/sangue , Plásticos/química , Cimento de Policarboxilato/química , Ratos , Ratos Sprague-Dawley , Distribuição Tecidual
5.
Toxicol Sci ; 76(1): 21-34, 2003 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12915710

RESUMO

The pharmacokinetics of bisphenol A (BPA), including the quantification of the major BPA metabolite BPA-monoglucuronide conjugate (BPA-glucuronide) was studied in Sprague-Dawley rats at different stages of gestation. 14C-BPA was administered orally at 10 mg BPA/kg body weight (0.2 mCi/rat) to nongravid rats and to other groups on gestation days (GD) 6, 14, and 17. GD 0 was when the vaginal smear was sperm positive or a copulatory plug was observed. Radioactivity derived from 14C-BPA was quantified in the maternal blood, selected tissues, and the embryo or fetus. BPA and BPA-glucuronide were quantified in maternal plasma and excreta. Additional rats were dosed orally at 10 mg 14C-BPA/kg (0.2 mCi/rat or 0.5 mCi/rat) on GD 11, 13, and 16 to further study the distribution of BPA and BPA-glucuronide to the embryo/fetal tissue. The tissue distribution, metabolism, or the rates or routes of excretion of BPA, or the plasma concentration-time profiles of BPA-glucuronide did not appear to be altered at any stage of gestation as compared to nonpregnant rats. In the GD 11 group, neither BPA nor BPA-glucuronide was detected in the yolk sacs or embryos, except for trace concentrations of BPA-glucuronide in the yolk sacs at 15 min postdosing. In the GD 13 group, both BPA and BPA-glucuronide were detected in the yolk sacs of the conceptus but not in the embryos/fetuses, except for BPA at 15 min. For the animals dosed with 0.2 mCi/rat on GD 16, both analytes were detected in the placentae at 15 min and 12 h, but not at 96 h. Traces of both analytes were detected in fetal tissue in two of five specimens at 15 min only. In rats dosed on GD 16 with 0.5 mCi/rat, the BPA-glucuronide and BPA concentrations in maternal plasma at 15 min were 1.7 and 0.06 mug equivalents (eq)/g plasma, respectively. At the same time postdosing in these animals, the placental BPA-glucuronide concentrations were lower (0.34 mug eq BPA [as glucuronide]/g), and the BPA concentrations were about equivalent (0.095 mug/g). Fetal BPA-glucuronide and BPA concentrations were markedly lower, 0.013 and 0.018 mug eq/g, respectively. Therefore, no selective affinity of either yolk sac/placenta or embryo/fetus for BPA or BPA metabolites relative to maternal plasma or tissues was observed in this study.


Assuntos
Glucuronídeos/farmacocinética , Troca Materno-Fetal , Fenóis/metabolismo , Fenóis/farmacocinética , Administração Oral , Animais , Compostos Benzidrílicos , Radioisótopos de Carbono , Cromatografia Líquida de Alta Pressão , Fezes/química , Feminino , Feto/metabolismo , Idade Gestacional , Glucuronídeos/sangue , Glucuronídeos/urina , Exposição Materna , Fenóis/sangue , Fenóis/urina , Placenta/metabolismo , Gravidez , Ratos , Ratos Sprague-Dawley , Distribuição Tecidual
6.
Toxicol Sci ; 75(1): 31-9, 2003 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12857936

RESUMO

The kinetic equivalency of propylene glycol monomethyl ether (PGME), derived from propylene glycol monomethyl ether acetate (PGMEA), as well as the parent compound (PGME) following intravenous administration to Fischer 344 rats was evaluated. In addition, in vitro hydrolysis rates of PGMEA in blood and liver tissue from rats and humans were determined. The blood kinetics were determined following iv administration to rats of PGME and PGMEA of low [10 and 14.7 mg/kg body weight (bw)] or high (100 and 147 mg/kg) equimolar dosages of PGME and PGMEA, respectively. The blood time courses of PGME elimination for both dosages of both compounds were identical. Half-lives of PGMEA elimination following iv administration of 14.7 or 147 mg PGMEA/kg bw were calculated to be 1.6 and 2.3 min, respectively. Rat and human in vitro hydrolysis rates of PGMEA were determined by incubation of 5 or 50 microg PGMEA/ml in whole blood or liver homogenate. The rate of loss of PGMEA was more rapid in rat blood than in human blood, with hydrolysis half-lives of 36 and 34 min in human blood and 16 and 15 min in rat blood for the 5 and 50 microg/ml concentrations of PGMEA, respectively. In contrast the rate of loss of PGMEA in human and rat liver homogenate incubations was similar, 27-30 min and 34 min, respectively. These data demonstrate the rapid hydrolysis of PGMEA in vivo to its parent glycol ether, PGME and that, once hydrolyzed, the kinetics for PGME derived from PGMEA are identical to that for PGME. This study supports the use of the toxicological database on PGME as a surrogate for PGMEA.


Assuntos
Propilenoglicóis/farmacocinética , Animais , Área Sob a Curva , Meia-Vida , Humanos , Hidrólise , Técnicas In Vitro , Injeções Intravenosas , Fígado/metabolismo , Masculino , Propilenoglicóis/sangue , Propilenoglicóis/toxicidade , Ratos , Ratos Endogâmicos F344 , Especificidade da Espécie , Fatores de Tempo
7.
J Clin Pathol ; 53(7): 558-60, 2000 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-10961183

RESUMO

This report describes a massive abdominal and pelvic myxoma in a patient with Carney's syndrome. A 38 year old woman presented with abdominal distension and a palpable mass, and at operation a large pelvic and abdominal tumour was identified and resected. The surgical specimen consisted of a lobulated mass, which on cut section had a uniform gelatinous consistency. The mass surrounded both ovaries, the appendix, and the upper part of the uterus, but macroscopically did not appear to involve these organs. Histological examination showed plump stellate and spindle shaped cells set in an abundant myxoid stroma, in keeping with a myxoma. Immunohistochemical staining revealed positivity of tumour cells for vimentin, but no reactivity to desmin, alpha-smooth muscle actin, S-100 protein, CD34, or AE1/AE3. This is the first documented case of massive adominal and pelvic myxoma in a patient with Carney's syndrome. Clinicians and pathologists should be aware that myxomas in Carney's syndrome can rarely involve unusual sites other than the skin and heart.


Assuntos
Neoplasias Abdominais/patologia , Mixoma/patologia , Neoplasias Pélvicas/patologia , Transtornos da Pigmentação/patologia , Adulto , Feminino , Humanos , Síndrome
8.
Toxicol Lett ; 114(1-3): 67-75, 2000 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-10713470

RESUMO

Diethanolamine (DEA), a secondary amine found in a number of consumer products, reportedly induces liver tumors in mice. In an attempt to define the tumorigenic mechanism of DEA, N-nitrosodiethanolamine (NDELA) formation in vivo and development of choline deficiency were examined in mice. DEA was administered with or without supplemental sodium nitrite to B6C3F1 mice via dermal application (with or without access to the application site) or via oral gavage for 2 weeks. Blood levels of DEA reflected the dosing method used; oral greater than dermal with access greater than dermal without access. No NDELA was observed in the urine, blood or gastric contents of any group of treated mice. Choline, phosphocholine and glycerophosphocholine were decreased

Assuntos
Carcinógenos/metabolismo , Deficiência de Colina/induzido quimicamente , Dietilnitrosamina/análogos & derivados , Etanolaminas/administração & dosagem , Administração Cutânea , Administração Oral , Alanina Transaminase/sangue , Animais , Aspartato Aminotransferases/sangue , Colina/metabolismo , Dietilnitrosamina/metabolismo , Etanolaminas/sangue , Etanolaminas/toxicidade , Conteúdo Gastrointestinal/química , Glicerilfosforilcolina/metabolismo , Fígado/química , Fígado/efeitos dos fármacos , Masculino , Camundongos , Fosfatidilcolinas/metabolismo , Fosfatidiletanolaminas/metabolismo , Fosforilcolina/metabolismo , Nitrito de Sódio/administração & dosagem , Esfingomielinas/metabolismo
9.
Br J Obstet Gynaecol ; 105(2): 206-10, 1998 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-9501788

RESUMO

OBJECTIVE: 1. To assess inter- and intra-observer variation in the histopathological reporting of cervical colposcopic biopsies using a histologic modification of the cytological Bethesda grading system; 2. to determine the histologic profile of those cases which resulted in diagnostic disagreement. METHODS: Consecutive cervical colposcopic biopsies (n = 125) were assessed independently by six experienced histopathologists. Cases were classified as normal, low grade squamous intraepithelial lesion or high grade squamous intraepithelial lesion. Six months later the process was repeated. The degree of inter and intra-observer variation was assessed by kappa statistics. All cases in which there was less than perfect inter and intra-observer agreement were reviewed by the coordinator of the study. RESULTS: In the first round of the study inter-observer agreement was generally poor, with unweighted and weighted kappa values ranging from 0.15 to 0.58 (average 0.30) and from 0.21 to 0.61 (average 0.36) respectively. In the second round inter-observer agreement was better, with unweighted and weighted kappa values ranging from 0.08 to 0.55 (average 0.33) and from 0.22 to 0.59 (average 0.42). Ten of the 15 pairs of observers achieved fair inter-observer agreement using weighted kappa analysis. The degree of intra-observer agreement was better, unweighted and weighted kappa values ranging from 0.26 to 0.61 (average 0.47) and from 0.34 to 0.62 (average 0.51) respectively. Two of the six participants achieved fair intra-observer agreement and two achieved good intra-observer agreement using weighted kappa analysis. There were marked difficulties in the separation of normal squamous epithelium from low grade squamous intraepithelial lesion and in the separation of low grade from high grade squamous intraepithelial lesions. Histopathological review revealed that many of the difficulties in the separation of normal and low grade squamous intraepithelial lesion were in the distinction between superficial vacuolated cells and true koilocytes. Difficulties also resulted in the separation of basal cell hyperplasia, inflammatory associated changes and immature squamous metaplasia from low grade squamous intraepithelial lesion. Conditions which resulted in difficulty in the separation of low grade and high grade squamous intraepithelial lesions included florid koilocytotic change and immature metaplastic squamous epithelium with atypia. In some cases, there was a full spectrum of diagnoses from normal to high grade squamous intraepithelial lesion. These were largely cases of immature metaplastic squamous epithelium with atypia and of thin or atrophic squamous epithelium with atypia. CONCLUSIONS: Most pairs of observers can achieve fair inter-observer agreement in the reporting of cervical colposcopic biopsies using a modified Bethesda system. Intra-observer agreement is also generally fair to good using this system. It may be that a two tier grading system is more appropriate for the histopathological reporting of these biopsies than the traditional three-tier intraepithelial neoplasia (CIN) system.


Assuntos
Carcinoma in Situ/patologia , Carcinoma de Células Escamosas/patologia , Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Biópsia , Feminino , Humanos , Variações Dependentes do Observador
10.
Br J Obstet Gynaecol ; 105(1): 18-23, 1998 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-9442156

RESUMO

OBJECTIVE: To investigate the rate and quality of perinatal/infant autopsies and their contribution to the final diagnosis. METHODS: The anonymised reports of autopsies performed on 174 of the 367 cases reported to the Northern Ireland Regional Confidential Enquiry into Stillbirths and Deaths in Infancy (CESDI) coordinator in 1993 were reviewed. They were scored using a modification of the CESDI Pathology Audit Form 93 and, based on the score obtained, ascrined to one of three groups: good, adequate or inadequate. Based on the information obtained, they were also assessed as providing diagnostic, confirmatory, additional or no diagnostic data. The pre-autopsy clinical extended Wigglesworth classification was compared with that based on autopsy findings. RESULTS: The autopsy rate was 47.4% and included 18 late fetal losses, 70 stillbirths, 57 neonatal deaths and 29 post neonatal deaths. The Regional Paediatric Pathology Centre performed 34.5% of the autopsies. Of the total number of autopsies, 46.6% failed to reach an adequate standard. Only 4.9% of the inadequate autopsies were performed in the Regional Centre. The Wigglesworth classification was altered in 20.7% of cases following autopsy. The autopsy findings of 49 cases were diagnostic, 75 confirmatory, 23 yielded additional information and 27 were useful in only a negative sense. CONCLUSION: The autopsy rate for this region is well below the recommended level of 75%. With the exception of the Regional Centre, the quality of the perinatal/infant autopsy did not reach the standard suggested in the CESDI Pathology Audit form 93. Despite this the autopsy yielded valuable diagnostic, confirmatory or additional findings in 84.5% and resulted in alteration to the pre-autopsy Wigglesworth classification in 20.7%.


Assuntos
Autopsia/normas , Autopsia/estatística & dados numéricos , Causas de Morte , Morte Fetal/patologia , Humanos , Lactente , Recém-Nascido , Auditoria Médica , Irlanda do Norte , Qualidade da Assistência à Saúde
11.
J Clin Pathol ; 51(12): 925-7, 1998 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-10070335

RESUMO

AIMS: To assess the clinical and pathological features of atypical mycobacterial lymphadenitis in childhood to define the salient clinical and histological features. METHODS: 17 cases were included on the basis of positive culture or demonstration of bacilli of appropriate morphology and staining characteristics. RESULTS: The mean age at diagnosis was 4.86 years. All children were systemically well, with clear chest x rays. Unilateral cervical lymphadenopathy was the commonest mode of presentation. Differential Mantoux testing played no part in diagnosis. Clinical diagnosis improved with awareness. Treatment varied with surgeons opting for excision and paediatricians adding six months antituberculous chemotherapy. Acid- and alcohol-fast bacilli were identified in nine cases. Bacterial cultures were conducted in 16 cases and were positive for atypical or nontuberculous mycobacteria in 14, the main organism being M avium-intracellulare complex (11 cases). Histologically, 12 cases had bright eosinophilic serpiginous necrosis with nuclear debris scattered throughout the necrotic foci. Langhans type giant cells featured in the majority of cases but infiltration by plasma cells and neutrophils was not consistent. CONCLUSIONS: Atypical mycobacterial lymphadenitis of childhood represents a rare but significant disease with characteristic clinical and histological features.


Assuntos
Linfadenite/patologia , Infecções por Mycobacterium não Tuberculosas/patologia , Micobactérias não Tuberculosas , Criança , Pré-Escolar , Corantes , Terapia Combinada , Feminino , Humanos , Lactente , Linfonodos/microbiologia , Linfadenite/tratamento farmacológico , Linfadenite/microbiologia , Linfadenite/cirurgia , Masculino , Infecções por Mycobacterium não Tuberculosas/tratamento farmacológico , Infecções por Mycobacterium não Tuberculosas/cirurgia , Complexo Mycobacterium avium , Pescoço
12.
Radiology ; 205(2): 417-22, 1997 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-9356622

RESUMO

PURPOSE: To assess accuracy and usefulness of placement of a localizing clip after stereotactic, vacuum-assisted breast biopsy. MATERIALS AND METHODS: Retrospective review was performed of 57 lesions that underwent placement of a localizing clip after stereotactic vacuum-assisted biopsy with an 11-gauge (n = 42) or 14-gauge (n = 15) probe. The clip was placed when images obtained after stereotactic biopsy suggested that the lesion seen at mammography was removed. Coordinates of the clip on stereotactic images obtained after placement were compared with lesion coordinates determined before biopsy. Surgery was performed in 25 cases. Mammographic and histopathologic findings were reviewed. RESULTS: The distance from clip to lesion site was less than 1 cm in 40 (95%) of 42 lesions that underwent clip placement with the 11-gauge probe versus 11 (73%) of 15 lesions that underwent clip placement after 14-gauge biopsy (P < .04). The biopsy site was identified in the surgical specimen in 19 (100%) lesions with clips after 11-gauge biopsy and five (83%) of six lesions with clips after 14-gauge biopsy. No complications occurred. CONCLUSION: A localizing clip can be placed in proximity to the stereotactic biopsy site through an 11-gauge probe. Clip placement can enable accurate localization for surgical excision.


Assuntos
Biópsia por Agulha/métodos , Mama/patologia , Técnicas Estereotáxicas , Instrumentos Cirúrgicos , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia por Agulha/instrumentação , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/diagnóstico por imagem , Neoplasias da Mama/cirurgia , Feminino , Humanos , Mamografia , Pessoa de Meia-Idade , Estudos Retrospectivos , Técnicas Estereotáxicas/instrumentação , Sucção
13.
Pediatr Pathol Lab Med ; 17(3): 487-96, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9185226

RESUMO

Wolcott-Rallison syndrome is a rare autosomal recessive condition characterized by diabetes mellitus arising in early infancy and multiple epiphyseal dysplasia. To date, nine cases have been described in the world literature. We report an affected girl who died at the age of 4 years and on whom a full autopsy was performed. In addition to neonatal diabetes mellitus and epiphyseal dysplasia, this child had mental retardation and recurrent episodes of self-limiting hepatic failure. Autopsy revealed severe pancreatic hypoplasia and markedly abnormal pancreatic histology, while histology of the bone was consistent with epiphyseal dysplasia. There was laryngeal stenosis and pulmonary hypoplasia. The heart was enlarged with mitral value dysplasia and stenosis, left atrial dilatation, left ventricular hypertrophy, and endocardial fibroelastosis. Examination of the central nervous system showed arrhinencephaly and cerebellar cortical dysplasia. The liver showed minor histological abnormalities but no features were present to account for the recurrent hepatic failure. In addition to Wolcott-Rallison syndrome this child had a deletion at 15q11-12 in 65% of her cells.


Assuntos
Diabetes Mellitus Tipo 1/patologia , Epífises/anormalidades , Osteocondrodisplasias/patologia , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/patologia , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 15 , Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/genética , Feminino , Genes Recessivos , Humanos , Falência Hepática Aguda/complicações , Falência Hepática Aguda/genética , Estenose da Valva Mitral/complicações , Estenose da Valva Mitral/genética , Estenose da Valva Mitral/patologia , Osteocondrodisplasias/complicações , Osteocondrodisplasias/genética , Pâncreas/patologia , Síndrome
14.
Am J Med Genet ; 69(4): 406-8, 1997 Apr 14.
Artigo em Inglês | MEDLINE | ID: mdl-9098491

RESUMO

Elejalde syndrome is a rare condition comprising a high birth weight, swollen globular body, a short neck with redundant skin folds, postaxial polydactyly, omphalocele, enlarged liver and kidneys, and renal dysplasia. The syndrome, also known as acrocephalopolydactylous dysplasia, is thought to be an autosomal recessive trait. We report on a liveborn infant with this condition.


Assuntos
Anormalidades Múltiplas , Anormalidades Múltiplas/patologia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Síndrome
15.
J Clin Pathol ; 49(10): 833-5, 1996 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8943751

RESUMO

AIMS: To assess interobserver variation in reporting cervical colposcopic biopsy specimens and to determine whether a modified Bethesda grading system results in better interobserver agreement than the traditional cervical intraepithelial neoplasia (CIN) grading system. METHODS: One hundred and twenty five consecutive cervical colposcopic biopsy specimens were assessed independently by six histopathologists. Specimens were classified using the traditional CIN grading system as normal, koilocytosis, CIN I, CIN II, or CIN III. The specimens were also classified using a modified Bethesda grading system as either normal, low grade squamous intraepithelial lesion (LSIL) or high grade squamous intraepithelial lesion (HSIL). Participants were also asked to categorise biopsy specimens by the CIN system with the addition of the recently proposed category "basal abnormalities of uncertain significance (BAUS)". The degree of agreement between participants was assessed by kappa statistics. RESULTS: Using the CIN system, interobserver agreement was generally poor: unweighted and weighted kappa values between individual pairs of observers ranging from 0.05 to 0.34 (average 0.20) and from 0.20 to 0.54 (average 0.36), respectively. With the modified Bethesda system, interobserver agreement was better but still poor: unweighted and weighted kappa values ranging from 0.15 to 0.58 (average 0.30) and from 0.21 to 0.61 (average 0.36), respectively. There was little or no agreement between observers in the diagnosis of BAUS. CONCLUSIONS: Interobserver agreement in the reporting of cervical colposcopic biopsy specimens using the CIN grading system is poor. Agreement, while still poor, is better when a modified Bethesda grading system is used. There is little or no consensus in the diagnosis of BAUS.


Assuntos
Displasia do Colo do Útero/patologia , Neoplasias do Colo do Útero/patologia , Biópsia , Colposcopia , Feminino , Humanos , Variações Dependentes do Observador
16.
Pediatr Pathol Lab Med ; 16(4): 673-80, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-9025864

RESUMO

A congenital fetal rhabdomyoma was removed from the neck of a male infant on the second day of life. The lesion recurred 10 years later with histological features suggestive of increased differentiation and no evidence of malignant transformation. An unrelated patient of 3 years suffered from a recurrent fetal rhabdomyoma 4 months after the initial resection. The possibility of early or late recurrence must be considered when a diagnosis of fetal-type rhabdomyoma is made.


Assuntos
Neoplasias Musculares/patologia , Recidiva Local de Neoplasia/imunologia , Recidiva Local de Neoplasia/patologia , Rabdomioma/patologia , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Neoplasias Musculares/genética , Neoplasias Musculares/imunologia , Recidiva Local de Neoplasia/genética , Rabdomioma/genética , Rabdomioma/imunologia
17.
Pediatrics ; 98(1): 52-5, 1996 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8668412

RESUMO

OBJECTIVE: To assess the value of early childhood education as a means of increasing awareness and knowledge about the sun and related skin disease(s). METHODS: A children's book promoting sun awareness and protection was developed. The next was incorporated into the health education curriculum of two third-grade classrooms (n = 82). The students completed a questionnaire before, immediately after, and 6 weeks after reading the text. Student sun awareness knowledge was compared using descriptive statistics and paired T-tests. RESULTS: Behaviors and attitudes that resulted in over-exposure to the sun's ultraviolet light were common among third-graders. Primary test areas included the sun's effect on skin, effective sunscreens, skin type, and skin cancer. Test scores showed a marked improvement (40% compared with baseline) in knowledge of sun protection at both posttests. Parents represented the greatest source of information for children (28 of 82) before this study, while doctors and teachers each accounted for only 1 of 82. CONCLUSIONS: Preventive measures in childhood have the potential to significantly reduce the incidence of sunrelated skin diseases; however, education to date has been directed primarily at presents. This study demonstrated that an educational book for elementary school students can be an effective tool to increase sun awareness and knowledge. The multifaceted approach to prevention recommended here is similar to that of the highly successful dental care campaign, consisting of direct education of children by physicians, teachers, parents, and the media.


Assuntos
Dermatopatias/prevenção & controle , Estudantes , Livros de Texto como Assunto , Raios Ultravioleta/efeitos adversos , Criança , Feminino , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Masculino , Dermatopatias/etiologia , Inquéritos e Questionários
18.
J Am Acad Dermatol ; 33(1): 19-25, 1995 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-7601941

RESUMO

BACKGROUND: Persistent telangiectases are a feature of neonatal lupus erythematosus (NLE) but have generally been noted in areas of prior inflammatory disease. The occurrence of vascular macules and papules at sites without preceding dermatitis has not been reported in NLE. OBJECTIVE: Our purpose was to emphasize a previously unidentified aspect of cutaneous NLE: the presence of angiomatous or matlike telangiectases in sites without antecedent or concurrent dermatitis. METHODS: We describe seven patients in which telangiectatic macules or angiomatous papules were primary or early features of NLE. RESULTS: Five infants lacked a history of preceding or concurrent inflammatory lesions at sites of telangiectasia development. In four infants findings included vulvar or inguinal angiomatous papules. CONCLUSION: Telangiectases may be a presenting feature of NLE, can be found in sun-protected sites, and may occur independent of "lupus dermatitis."


Assuntos
Lúpus Eritematoso Cutâneo/complicações , Telangiectasia/etiologia , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Masculino
19.
J Cutan Pathol ; 22(2): 185-7, 1995 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-7560356

RESUMO

Cutaneous horns are common lesions that usually represent actinic keratoses, verrucae, seborrheic keratoses, and squamous cell carcinomas. We present a remarkable example of a sebaceous adenoma with cutaneous horn formation. The solitary lesion occurred over the left clavicle of a 71-year-old man without evidence of the Muir-Torre syndrome. There have been only three previous reports of sebaceous tumors (one sebaceous adenoma and two sebaceous carcinomas) producing cutaneous horns, the latter of which are actually pseudohorns, exophytic extensions of tumor without hyperkeratosis.


Assuntos
Adenoma/patologia , Glândulas Sebáceas , Neoplasias Cutâneas/patologia , Idoso , Humanos , Ceratose/patologia , Masculino
20.
Pediatr Pathol ; 14(6): 945-53, 1994.
Artigo em Inglês | MEDLINE | ID: mdl-7855014

RESUMO

New histological lesions have been reported in the lungs of preterm neonates treated with surfactant for respiratory distress syndrome (RDS). Globular deposits of hyaline maternal in parenchymal air spaces, absence of hyaline membranes, and increased interstitial cellularity and edema without associated fibrosis have been described. Fifteen histological findings were assessed in the lung pathology of 76 infants with RDS from three study groups. Group I (24 infants) died in the presurfactant era (before 1982), group II (26 infants) died despite having surfactant treatment, and group III (26 infants) were either untreated controls or did not receive surfactant for other reasons. The three groups were comparable in respect of sex and survival time. All infants were 34 weeks of gestation or less. Infants with a significant congenital abnormality or pulmonary hypoplasia were excluded. The 76 cases were assessed independently and "blindly" by two pathologists. The histological findings assessed were alveolar collapse; epithelial necrosis, proliferation, and metaplasia; hyaline membranes; dilated lymphatics; pulmonary interstitial emphysema; interstitial edema, inflammation, and fibrosis; arteriolar muscular hyperplasia; interstitial and intra alveolar hemorrhage; massive pulmonary hemorrhage; and pneumonia. No significant differences were found in any of the histological findings between the three groups. The hyaline membranes seen in the surfactant-treated infants were identical to those in the untreated lungs and were of the characteristic linear type. Interstitial fibrosis, inflammation, and edema were present in all three groups. It has also been suggested that surfactant therapy protects preterm infants from interstitial hemorrhage but predisposes them to intra-alveolar hemorrhage. No significant difference in the incidence of intra-alveolar and interstitial hemorrhage in the three groups was identified.


Assuntos
Produtos Biológicos , Pulmão/patologia , Fosfolipídeos , Surfactantes Pulmonares/uso terapêutico , Síndrome do Desconforto Respiratório do Recém-Nascido/tratamento farmacológico , Feminino , Idade Gestacional , Hemorragia/patologia , Humanos , Recém-Nascido , Masculino , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Estudos Retrospectivos , Taxa de Sobrevida
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