A rare abnormal karyotype (45,X/47,XY + 18) associated with increased nuchal translucency thickness.
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Chromosome Aberrations↗
Biomedical subjects
J E Dahlstrom
Publications and source records attributed to J E Dahlstrom.
Chorioamnionitis/funisitis and the development of bronchopulmonary dysplasia.
OBJECTIVE: To examine the association between chorioamnionitis with or without funisitis and bronchopulmonary dysplasia in infants less than 30 completed weeks gestation given the current standards of antenatal steroid and surfactant use. METHODS: Infants included in the study were those delivered at less than 30 completed weeks gestation from January 1996 to July 2001, identified from a prospectively managed database. Placental pathology was reviewed for the presence or absence of chorioamnionitis and funisitis. Infants were divided into three groups depending on degree of exposure to fetal inflammation (no inflammation, chorioamnionitis only and chorioamnionitis and funisitis). Data relating to gestational age, sex, antenatal steroid exposure, surfactant treatment, days of positive pressure ventilation and days of oxygen required were collected. Bronchopulmonary dysplasia was defined as death due to respiratory failure or any oxygen requirement at 36 weeks postmenstrual age. RESULTS: Two hundred and forty-one infants were included in the study. The mean gestational age was 27.7 weeks and mean birthweight 1089 g. One hundred and sixty-one infants were not exposed to any in utero inflammation, 40 showed chorioamnionitis and 40 showed chorioamnionitis and funisitis. There was no significant difference between antenatal steroid and surfactant treatment between the three groups. There was no significant difference between the three groups in the development of bronchopulmonary dysplasia. Low gestational age was the most significant predictor of developing bronchopulmonary dysplasia. CONCLUSION: The risk of developing bronchopulmonary dysplasia is not increased following exposure to chorioamnionitis or funisitis in the context of current antenatal steroid and surfactant use. The most significant predictor for developing bronchopulmonary dysplasia is gestational age at the time of delivery.
Betamethasone↗
Acute tracheal trauma in sheep caused by percutaneous tracheostomy.
The aim of our study was to compare dilation forceps tracheostomy and sequential dilator tracheostomy in anaesthetized live adult sheep with respect to the characteristics of the stoma formed and the associated injury. We performed percutaneous tracheostomy on adult sheep randomly allocated to receive either dilation forceps or sequential dilators. Sheep were sacrificed immediately after insertion of the percutaneous tracheostomy and the tracheas dissected. Specimens were examined for site, shape and size of stoma, mucosal lacerations, and posterior wall trauma. Ten sheep had dilation forceps tracheostomy and ten had sequential dilator tracheostomy. All of the specimens were found to have cephalo-caudal mucosal tears, usually crossing tracheal rings. The dilation forceps technique was found to have a larger stoma (28.8 mm vs 24.0 mm, P=0.023). The incidence of posterior needle trauma and mucosal lacerations were common (35% and 50% respectively), but they were not statistically different between the two groups. The role of the mucosal tears in the development of tracheal stenosis is reviewed in the discussion.
Analysis of Variance↗
Focal myositis.
Focal myositis is a rare, benign focal inflammation of muscle. The lesion often presents as a mass that may be mistaken for a soft tissue sarcoma. This report describes the MRI and histopathological features of a case and illustrates how the diagnosis may be suspected on the basis of the MR findings.
Adolescent↗
Fine needle aspiration cytology of pulmonary lesions: a reliable diagnostic test.
The objective of this study was to determine the accuracy of image-guided fine needle aspiration cytology (FNAC) in the diagnosis of pulmonary lesions. A retrospective study was undertaken of 286 patients with 288 lesions, who underwent a total of 302 procedures. The FNAC diagnoses were reported as malignant, suspicious, atypical, benign or non-diagnostic. Subsequently the FNAC diagnoses were correlated with either the histological or clinical diagnoses. Of the 288 lesions, 64.6% were reported on FNAC as malignant, 2.1% suspicious, 2.4% atypical, 20.8% benign and 10.1% nondiagnostic. On review of the suspicious, atypical, selected benign cases and non-diagnostic FNAC by an independent pathologist there was agreement with the original FNAC diagnosis in all cases. All of 186 malignant FNAC diagnoses were confirmed malignant either clinically or on subsequent histology. Four of the six suspicious FNAC diagnoses had a malignant outcome, one patient had organising pneumonia on excision biopsy and one was lost to follow up. Six of the seven atypical FNAC diagnoses were confirmed on histology as malignant, while one lesion resolved spontaneously. Fifty-two of 60 benign FNAC diagnoses were confirmed benign either clinically or on histology. Seven of the lesions diagnosed as benign on FNAC were proven to be malignant. One patient with a benign FNAC diagnosis was lost to follow-up. Ten of the 29 non-diagnostic FNAC group were later shown on clinical or histological follow up to be malignant. This study shows that image guided FNAC for the diagnosis of malignant pulmonary lesions has a sensitivity of at least 92% and a specificity of at least 96%. It is a reliable diagnostic test although its accuracy is limited by technical difficulties in obtaining an adequate sample.
Adenocarcinoma↗
Histological correlation of mammographically detected microcalcifications in stereotactic core biopsies.
The aims of this study were to assess the value of specimen radiographs of stereotactic core biopsy, the usefulness of measuring size of calcifications on tissue sections, whether demonstration of calcifications in tissue sections alters the pathological diagnosis when specimen radiograph demonstrates calcifications, and to correlate these assessments with diagnostic outcome. A total of 301 core biopsies from 266 women with 274 mammographically suspicious areas of calcifications were examined. Core biopsies (five cores per procedure) were obtained stereotactically using a 14-gauge needle in an automated Biopty gun. Prior to processing of the tissue, 214 core biopsy specimens from 193 women with 197 lesions were radiographed. Of the 301 core biopsies, 56 (19%) were diagnosed as malignant, 15 (5%) were diagnosed as atypical ductal hyperplasia and 230 (76%) contained benign breast tissue. Of the core biopsies diagnosed as benign, 160 (70%) had specimen radiography prior to processing. Of these, 109 (69%) core biopsies showed calcifications on specimen radiographs. In 96 (88%) of these core biopsies, calcifications measuring > 100 microm were found on the initial tissue sections. In 11 (10%) further deeper sections were required to detect calcifications > 100 microm; however, this did not result in a change of the pathological diagnosis. Two of the 109 (1.8%) "benign" core biopsies, which contained tissue calcifications > 100 microm and at that time were considered representative of the mammographic lesion, have had a malignant outcome on clinical and mammographic follow-up ranging from 2.4 to 7.5 years. Of the 51 (31%) core biopsies where calcifications were not seen on specimen radiographs, histological calcifications were not found in 34 (67%) core biopsies, whereas in 17 (33%) core biopsies, calcifications measuring < 100 microm were found. All of these core biopsies were considered non-diagnostic and therefore not representative of the lesion targeted. Five (9.8%) of these cases had a malignant outcome with either immediate rebiopsy or excision. Accurate diagnosis of all mammographic lesions requires radiological-pathological correlation. This study shows that the presence of calcifications on the specimen radiograph and the demonstration of tissue calcifications > 100 microm are an essential and highly reliable part of core biopsy assessment for mammographically "suspicious" calcifications. Nevertheless, lesions with "highly suspicious" calcifications on mammography should be considered for excision even if the core biopsy diagnosis is benign and calcifications > 100 microm are present.
Biopsy, Needle↗
Lethal prenatal onset infantile cortical hyperostosis (Caffey disease).
We describe a sporadic case of lethal prenatal onset infantile cortical hyperostosis (Caffey disease), which resulted in early postnatal death at 30 weeks gestation. The mother presented with antepartum haemorrhage and preterm labour. She was found to have polyhydramnios. The infant showed extensive symmetrical diaphyseal subperiosteal cortical thickening throughout the skeleton with short extremities. Hepatomegaly and lung hypoplasia were present. Currently, in the absence of a specific marker, diagnostic ultrasound offers the only prospect of prenatal diagnosis. This diagnosis should be considered in infants with short angulated long bones, where the diaphyses are irregular and echodense, and where there is no sign of fractures.
Fatal Outcome↗
Immunohistochemistry of omega class glutathione S-transferase in human tissues.
Omega class glutathione transferase (GSTO) has been recently described in a number of mammalian species. We used immunohistochemistry to determine the cellular and tissue distribution of GSTO1-1 in humans. Expression of GSTO1-1 was abundant in a wide range of normal tissues, particularly liver, macrophages, glial cells, and endocrine cells. We also found nuclear staining in several types of cells, including glial cells, myoepithelial cells of the breast, neuroendocrine cells of colon, fetal myocytes, hepatocytes, biliary epithelium, ductal epithelium of the pancreas, Hoffbauer cells of the placenta, and follicular and C-cells of the thyroid. These observations and the known activity of GSTO1-1 suggest biological functions that are not shared with other GSTs.
Glutathione Transferase↗
Apocrine adenoma of the breast: diagnosis on large core needle biopsy.
Apocrine adenoma is a rare benign epithelial tumour of the breast that can radiologically present as a well-defined opacity. The clinical, radiological and pathological findings of apocrine adenoma of the breast in a 72-year-old woman are described. Histologically, the tumour is characterised by a circumscribed proliferation of metaplastic apocrine cells which may contain calcifications. Pathological assessment of the lesion is essential in making the diagnosis.
Adenoma↗
Electron microscopic assessment of smeared or imprinted specimens of solid tumours.
The aim of this study was to develop a reliable method for preparation of smeared or imprinted cytology specimens for electron microscopic examination. Ten different solid tumours were studied. In each case one air-dried (Diff-Quik stained) and one alcohol-fixed (Pap stained) smear was prepared for diagnostic purposes. Simultaneously, a third smear or imprint was prepared for electron microscopy on a coverslip that was coated with poly-L-lysine and attached to a glass slide using double-sided adhesive tape. The smear or imprint was primary fixed in 2% glutaraldehyde in 0.1 M phosphate buffer, pH 7.4, for 2 hours. The coverslip was removed from the slide, placed in a glass petri dish and processed for electron microscopy. The smear/imprint on the coverslip was embedded in resin on a silicon embedding mould and allowed to polymerise for 8-12 hours. The coverslip was removed using liquid nitrogen and the block sectioned using standard techniques as for a monolayer. The specimens collected for electron microscopy using this technique yielded sufficient material for assessment with excellent tissue preservation producing good ultrastructural detail. Focal mechanical damage was seen in some specimens but diagnostic areas were always found within the block. As the smear/imprint can be regarded as a monolayer, the processing time can be reduced compared with solid tissue specimens. This technique ensures that well-preserved tissue is available for electron microscopy even when the sample size is very limited.
Biopsy, Needle↗
Distinctive microvillous brush border staining with HBME-1 distinguishes pleural mesotheliomas from pulmonary adenocarcinomas.
HBME-1 is an antimesothelial monoclonal antibody that recognises an unknown antigen on microvilli of mesothelioma cells. The aim of this study was to evaluate the staining pattern with respect to antibody dilution, cellular distribution and intensity of immunohistochemical staining with HBME-1 in pleural mesotheliomas compared with pulmonary adenocarcinomas. A total of 27 pulmonary adenocarcinomas and 26 mesotheliomas were stained with commercially available HBME-1 at various antibody dilutions and evaluated for the site (membranous, +/- microvillous brush border or cytoplasmic), intensity and percentage of cells staining. On light microscopy, 23 mesotheliomas showed distinctive microvillous brush border staining with HBME-1 (three mesotheliomas--two sarcomatoid and one poorly differentiated--were negative). Twenty-five adenocarcinomas showed membranous +/- cytoplasmic staining but lacked the distinctive microvillous brush border staining. In a subgroup of tumours studied by electron microscopy following immunogold labelling by HBME-1, all of 16 mesothelioma cases showed strong immunogold labelling in the membranes of the long microvilli. In contrast, the 12 cases of pulmonary adenocarcinomas showed minimal labelling in the membranes of the short microvilli, but staining was seen within vesicles, often near the surface of the cells. This study shows that the presence of a distinctive microvillous brush border by immunohistochemical staining with HBME-1 allows distinction between pleural mesotheliomas and pulmonary adenocarcinomas (sensitivity of 88%, specificity of 100%). The difference in the ultrastructural distribution of immunogold labelling with HBME-1 between mesotheliomas and adenocarcinomas underscores the light microscopy findings.
Adenocarcinoma↗
Test and teach. Is it cancer? Renal tubular epithelial dysplasia.
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Biomarkers, Tumor↗
Intradiploic hematoma after skull fracture: case report and literature review.
BACKGROUND: Intradiploic hematoma of the skull was first reported in 1934. The pathogenesis of this lesion is unclear. It is a very rare benign reactive process occurring after minor head trauma, with only seven cases reported in the literature to date. CASE DESCRIPTION: A 3-year-old right hand dominant male presented with a non-tender parietal scalp swelling of a 1-year duration. History included a skull fracture located in the same region 24 months before presentation. Neurological examination was unremarkable. Pathological examination after curettage of the lesion revealed features consistent with organizing hematoma. CONCLUSIONS: The pathology of chronic diploic hematoma mimics aneurysmal bone cyst, giant cell tumor, giant cell reparative granuloma, fibrous dysplasia, eosinophilic granuloma, intradiploic epidermoid and dermoid cyst, cavernous hemangioma, circumscribed osteomyelitis, and tuberculous granuloma. Chronic diploic hematoma is a lesion that must be differentiated from various skull lesions both radiologically and histologically as it is amenable to treatment with a complete cure once excised.
Child, Preschool↗
Test and teach. Number One hundred and two. Vascular transformation of lymph node sinuses.
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Adult↗
Joubert syndrome: an affected female with bilateral colobomata.
Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.
Abnormalities, Multiple↗
Focal necrotising vasculitis with secondary myositis following fluoxetine administration.
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Aged↗
VACTERL with hydrocephalus: family with X-linked VACTERL-H.
We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/3), and cardiac abnormalities (1/3). X-linked inheritance seems certain in this family. These abnormalities are characteristic of the rare X-linked VACTERL-H syndrome. In addition, one maternal female cousin had a severe tracheo-esophageal fistula. This may represent partial manifestation in a female carrier. Chromosomes were apparently normal (46XY) with no spontaneous or excess induced breakages in one of the affected offspring and his mother. In the absence of a genetic marker, diagnostic ultrasonography is the investigation of choice for early in utero detection of this syndrome. A confident ultrasonographic diagnosis was possible by 20 weeks in the 2 cases examined.
Abnormalities, Multiple↗
Histologic-radiologic correlation of mammographically detected microcalcification in stereotactic core biopsies.
Core biopsy is an alternative technique to surgical excision for assessment of nonpalpable mammographically detected suspicious lesions. The pattern of radiologic calcification is often considered to have diagnostic importance. The aim of this study was to correlate radiologic and histologic features of calcification, with respect to appearance, distribution, and size, to determine the significance, if any, of different radiologic patterns of calcification. Core biopsy samples from 124 women who had 129 mammographically suspicious areas of calcification were examined. Core biopsy samples (five cores per procedure) were obtained stereotactically using a 14-gauge needle in an automated Biopty (Bard Australia, Chatswood, NSW, Australia) gun. In 30 lesions no histologic calcification was found. In the others, there was a poor correlation between radiology and histology with respect to the appearance and distribution of calcification. In a subgroup of 53 women, radiographs of biopsy cores were available to allow correlation with the size of histologic calcification. Calcification of <100 microm assessed histologically was not visible on core biopsy specimen radiographs and may not represent the calcification seen mammographically. Thus, radiography of core biopsy samples and histologic measurement of the size of calcification in core biopsy specimens is useful to reduce false-negative diagnoses in which a biopsy has been performed to evaluate mammographically suspicious calcifications.
Biopsy↗