Ultrasound detection and perinatal outcome of fetal trisomies 21, 18 and 13 in the absence of a routine fetal anomaly scan or biochemical screening.
OBJECTIVES: To determine the prenatal detection rate of abnormality (fetal anomaly or growth restriction) in pregnancies complicated by fetal trisomies 21, 18 and 13 in an obstetric population managed without routine biochemical or sonographic screening tests and to assess the perinatal outcome of these pregnancies. SUBJECTS AND METHODS: This was a retrospective analysis of obstetric and neonatal data pertaining to infants born with trisomy 21, 18 or 13 (n = 82) diagnosed between 1989 and 1997 (23 762 deliveries). RESULTS: Antenatal suspicion of aneuploidy, based on the detection of growth restriction or fetal anomaly, was present in 18.3% (11 of 60) of fetuses with trisomy 21, in 81.2% (13 of 16) of fetuses with trisomy 18, and in 83.3% (five of six) of fetuses with trisomy 13. The antenatal detection rates for growth restriction were accurate whereas the antenatal detection rates for fetal anomalies were poor. Intrauterine fetal death occurred in 18.8% of fetuses with trisomy 18 (three of 16) and in 50% (three of six) of cases of trisomy 13. For babies born alive with trisomy 18 or 13 the neonatal mortality was 93.8% (15 of 16). All cases of trisomy 21 fetuses survived beyond the perinatal period and the antepartum and intrapartum details of these pregnancies were unremarkable. CONCLUSION: In obstetric practice without routine biochemical or sonographic screening tests the detection of findings suggestive of aneuploidy is low for trisomy 21, but is high for trisomies 18 and 13. These findings provide information for counseling about the antenatal, intrapartum, and neonatal course of these trisomies. (+info)
Incidental findings on pediatric MR images of the brain.
BACKGROUND AND PURPOSE: Previous studies have addressed the prevalence of incidental findings in symptomatic and healthy adult populations. Our study aims to elucidate the prevalence of incidental findings in a healthy pediatric population. METHODS: We retrospectively reviewed 225 conventional brain MR imaging studies obtained during structural and functional brain imaging research in a cohort of neurologically healthy children (100 boys [44%] and 125 girls [56%]) ranging in age from younger than 1 month to 18 years. All MR images were reviewed, and two board-certified neuroradiologists categorized the findings by consensus. RESULTS: Incidental abnormalities were detected in 47 subjects (21%), while 79% of the images were normal. Of the 47 abnormalities detected, 17 (36%) required routine clinical referral; a single lesion (2%) required urgent referral. The occurrence of these findings in the male cohort was twice that of the female cohort; however, the percentage of subjects requiring either routine or urgent referral did not differ by sex (male subjects, 34%; female subjects, 39%). CONCLUSION: Although the frequency of clinically important incidental abnormalities was not high in the sample of children studied, the presence and variety of findings in any pediatric group is particularly important for both the welfare of the subject and for research in which knowledge of the subject's neurologic status is vital to the interpretation of the results. Despite the limitations of the study in terms of the age and ethnic distribution, this work highlights the need for the routine involvement of trained radiologists in these studies to ensure that such incidental findings are detected and that appropriate follow-up is provided. (+info)
Post-radiation dedifferentiation of meningioma into osteosarcoma.
BACKGROUND: A number of osteoblastic meningiomas, primary osteosarcomas of the meninges, and post-radiation osteosarcomas of the head have been reported. However, postradiation dedifferentiation of meningioma into osteosarcoma has not been reported previously. CASE PRESENTATION: In 1987 a caucasian man, then 38 years old, presented with a pituitary macroadenoma. He underwent a subtotal resection of the tumor and did well until 1990 when a recurrent tumor was diagnosed. This was treated with subtotal resection of the tumor, followed by radiation therapy for six weeks to a total of 54 Gy. He was considered "disease-free" for nearly ten years. However, most recently in July 2000, he presented with a visual field deficit due to a second recurrence of his pituitary macroadenoma, now with suprasellar extension. At this time, as an incidental finding, a mass attached to the dura was noted in the left parietal hemisphere. This dura-based mass had grown rapidly by January 2001 and was excised. It showed histological, immunohistochemical, and electron microscopic features of malignant meningioma and osteosarcoma with a sharp demarcation between the two components. CONCLUSIONS: We report a rare case of a radiation induced dedifferentiation of meningioma into osteosarcoma, which has not been reported previously. (+info)
Low grade marginal zone B cell lymphoma of the breast associated with localised amyloidosis and corpora amylacea in a woman with long standing primary Sjogren's syndrome.
Primary low grade marginal zone B cell lymphoma (MZL) of the breast and localised mammary amyloidosis are exceedingly rare entities. This report describes the case of a woman with long standing Sjogren's syndrome presenting with asymptomatic MZL of the breast showing plasmacytic differentiation, associated with local ductular amyloidosis. The lesion was discovered incidentally in breast tissue resected for microcalcifications. Immunohistochemistry revealed kappa light chain restriction, supporting the neoplastic nature of the infiltrate. A retrospective molecular study of the salivary gland biopsy showed a B cell clone. This is the first report of the association of human mammary ductular amyloidosis with cartwheel shaped material identical to corpora amylacea, usually seen in brain, lung, and prostate, but unknown in the human breast. The excellent outcome without treatment seen in this patient further emphasises the need to distinguish between MZL with plasmacytic differentiation and extramedullary plasmacytoma. (+info)
Laparoscopic cholecystectomy and incidental carcinoma of the extrahepatic bilary tree.
BACKGROUND AND OBJECTIVES: Gallbladder carcinoma is found in 0.2% to 5% of patients undergoing cholecystectomy, and gallstones are found in 70% to 98% of patients with gallbladder carcinoma. Early diagnosis of carcinoma is difficult because of the absence of specific symptoms and the frequent association with chronic cholecystitis and gallstones. At present, laparoscopic cholecystectomy is the gold standard for the surgical treatment of symptomatic cholelithiasis and other benign gallbladder diseases. The aims of this study were to evaluate retrospectively the incidence of occasional and occult gallbladder carcinomas to ascertain the effect of laparoscopy on diagnosis and treatment of unexpected extrahepatic biliary tree carcinomas and to assess possible guidelines that can be taken into consideration when the problem is encountered. METHODS: Clinical records of 3900 patients undergoing laparoscopic cholecystectomy were reviewed. Patients with occasional (intraoperative = Group A) or occult (postoperative = Group B) diagnosis of gallbladder or common bile duct carcinoma entered the study group. Follow-up data were obtained in June 2000. RESULTS: A total of 14 patients (0.35%), 3 men and 11 women, mean age 60.8 years (range 37 to 73) with extrahepatic biliary tree carcinoma were found. Occasional carcinomas occurred in 8 patients, occult carcinomas in 6. No deaths occurred in either group. The overall survival at mean follow-up of 30.5 months is 50%. Five patients are disease free, and 2 are alive with evidence of recurrence. DISCUSSION: In 2 large series of unselected consecutive laparoscopic cholecystectomy, only 14 unsuspected malignant tumors of the extrahepatic biliary tree were found (0.35%). The limits of the preoperative workup and the difficult diagnosis of biliary tract carcinoma during laparoscopic cholecystectomy, has led to the present retrospective study and several significant recommendations. (+info)
Incidental and symptomatic renal tumors: impact on patient survival.
CONTEXT: Renal cell carcinoma is the third most frequent genitourinary neoplasia, and there is currently an increase in the incidental diagnosis of tumors confined to the kidneys. OBJECTIVE: To study the survival of patients with incidental and symptomatic renal tumors who have undergone nephrectomy. DESIGN: Retrospective. SETTING: Hospital Sirio Libanes and Hospital Beneficencia Portuguesa de Sao Paulo. PARTICIPANTS: 115 patients with diagnosis of renal cell carcinoma, operated on by the same group of surgeons and evaluated by a single pathologist. MAIN MEASUREMENTS: Sex, age and diagnosis method, analyzed in two groups, according to the tumor diagnosis: Group 1 with incidental diagnosis and Group 2 with symptomatic tumors. The anatomopathological characteristics and patient survival in both groups were evaluated. A statistical analysis was performed using the Student t, chi-squared, log rank and Kaplan-Meyer tests. RESULTS: Among the studied patients, 59(51%) had an incidental diagnosis, with 78% diagnosed by ultrasonography, 20% by computerized tomography scan and 2% during surgeries; 56 patients (49%) were symptomatic. Tumor locations were equally distributed between the two kidneys, and the surgery was conservative for 24% of the incidental and 9% of the symptomatic group. In the incidental group only one patient had tumor progression and there was no death, while in the symptomatic group there were 5 progressions and 10 deaths. The 5-year specific cancer-free survival was 100% in the incidental and 80% in the symptomatic group (p = 0.001) while the disease-free rate was 98% in the incidental and 62% in the symptomatic group (p < 0001). CONCLUSION: Incidental renal tumor diagnosis offers better prognosis, providing longer disease-free survival. (+info)
A case of primary esophageal B-cell lymphoma of MALT type, presenting as a submucosal tumor.
The primary esophageal lymphoma is extremely rare, and shows various morphologic characteristics. Only a single case of mucosa-associated lymphoid tissue (MALT) type lymphoma confined to the esophagus has been reported in the literature. A 61-yr-old man was referred to our hospital for evaluation of an esophageal submucosal tumor (SMT) that had been detected incidentally by endoscopy. He had a history of pulmonary tuberculosis with long-term anti-tuberculosis medication 15 yr before, and also had a history of syphilis, which had been treated one year before. He had been taking a synthetic thyroid hormones for the past 10 months because of an autoimmune thyroiditis. Endoscopy showed a longitudinal round and tubular shaped smooth elevated lesion, which was covered with intact mucosa and located at the mid to distal esophagus, 31 cm to 39 cm from the incisor teeth. Endoscopic ultrasonography (EUS) showed a huge longitudinal growing intermediate- to hypo-echoic mass located in the submucosal layer with internal small, various sized honeycomb-like anechoic lesions suggesting germinal centers. Subsequently, he underwent a surgery, which confirmed the mass as a primary esophageal low-grade B-cell lymphoma of MALT type. (+info)
Role of the corpus callosum in functional connectivity.
BACKGROUND AND PURPOSE: Regional cerebral blood flow fluctuates synchronously in corresponding brain regions between the hemispheres. This synchrony implies neuronal connections between brain regions. The synchrony of blood flow changes is defined operationally as functional connectivity. Our purpose was to measure functional connectivity in patients with corpus callosal agenesis, in whom the interhemispheric connectivity is hypothetically diminished. METHODS: In three patients with agenesis of the corpus callosum, functional MR imaging was performed while patients performed text-listening and finger-tapping tasks. Functional images were also acquired while the patients performed no specific task (resting state). Regions of activation temporally correlated with the performance of the tasks were identified by cross-correlating the task data with a reference function. Voxel clusters (seed voxels) that corresponded to regions of activation in the task-activation data set were selected in the resting data set. All the voxels in the resting 3D data set that had a correlation coefficient exceeding 0.4 were identified. The number of these voxels in the ipsilateral and contralateral hemispheres was tabulated. RESULTS: In all patients, technically adequate functional MR and functional connectivity MR maps were obtained. For both tasks, activation was found in both hemispheres. For all of the seed voxels, significantly more functionally connected voxels were found in the ipsilateral hemisphere than in the contralateral hemisphere. For most seed voxels, no functionally connected voxels were found in the contralateral hemisphere. CONCLUSION: Interhemispheric functional connectivity in the motor and auditory cortices is diminished in patients with agenesis of the corpus callosum compared with that of healthy subjects. (+info)