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ABSTRACT: Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.
Clinical Genetics 06/2008; 40(4):257 - 262. · 3.13 Impact Factor
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ABSTRACT: To establish the role of Doppler ultrasonography (US) in the examination of patients with acute unilateral optic neuritis.
Twenty-five patients with a clinical diagnosis of optic neuritis were prospectively evaluated and 18 of them were included in the study. The inclusion criteria were MR findings of unilateral disease and age below 50 years. All patients were examined with MR in order to objectively detect, localize and measure the optic nerve lesions and in order to exclude patients with unidentifiable optic nerve involvement. Evaluation with US was performed to determine nerve morphology, nerve swelling, and resistance to flow in the central retinal artery. The patients' contralateral optic nerve served as an internal control. The US findings were correlated to the degree of visual impairment, both initially and at follow-up. Visual evoked potential (VEP) assessments were also performed in 16 patients.
A statistically significant difference was found in the optic nerve diameter and in the resistance to flow in the central retinal artery between the affected and unaffected eyes. Patients with a prolonged impairment of visual acuity initially had a more swollen nerve and an increased resistance to flow in the affected optic nerve. Prognostic information was also gathered solely by evaluating the unaffected nerve diameter: patients who normally had thinner optic nerves had a more severe form of optic neuritis. VEP assessments were positive in all patients investigated.
Doppler US can be used together with a VEP assessment as an indicator of the disease process in acute optic neuritis. These methods offer a potential for monitoring patients over time.
Acta Radiologica 05/1998; 39(3):243-8. · 1.37 Impact Factor
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ABSTRACT: A total of 175 consecutive patients who had undergone a renal biopsy with a biopsy gun were evaluated retrospectively to assess the diagnostic accuracy rate of radiologists with varying experience in biopsy procedures. No statistically significant difference was found between the different operators. If provided with detailed instruction even operators with a limited amount of experience produced biopsy results equal to those of experienced operators. The automated sampling character of the biopsy gun, with a consistently high diagnostic sampling rate (96%), is believed to be responsible for these results. In a subgroup of 27 patients diagnostic accuracy was not found to be reduced in overweight patients.
European Radiology 09/1994; 4(5):430-433. · 3.22 Impact Factor
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ABSTRACT: Ultrasound (US) was used to monitor the size of tissue necrosis generated by Nd-YAG laser-induced local interstitial hyperthermia and tissue coagulation in 8 normal pig livers. Four treatments were done in each liver with 4 different energy settings. The size of the tissue necrosis measured on specimens was compared to the size measured on US. The laser energy caused a round tissue necrosis with some charring in the centre surrounded by a zone of white necrosis and a thin border of hyperaemia. A good correlation was found between the true and US-measured size of the necrosis diameters. It therefore seems possible to safely guide and monitor local laser hyperthermia in the liver with real-time US. The water-cooled quartz fibre used in this study has, however, some limitations.
Acta Radiologica 02/1994; 35(1):6-9. · 1.37 Impact Factor
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ABSTRACT: In a retrospective analysis of 129 ultrasound-guided biopsy-gun biopsies (USGB) from patients with known or suspected malignant lymphoma, a histopathological diagnosis was obtained in 101 (78%) instances and no further procedures for histological verification were required. In the 28 cases with initially non-diagnostic results, 14 new USGBs were performed and a diagnosis was obtained in 11. Thus, a total success rate of 87% was achieved. The correct diagnosis was confirmed with either surgery, autopsy, or radiological or clinical follow-up (median 40 months). The diagnoses were categorised as Hodgkin's disease and high-grade or low-grade non-Hodgkin's lymphoma. Further subtyping of the lymphoma was possible in a few cases only. Immunohistochemistry was utilised only in a minor proportion of the cases (25/129), but refined the diagnosis in several instances. The biopsy-gun method was safe and minor adverse effects were seen in two patients only.
Acta Oncologica 02/1994; 33(1):33-7. · 3.33 Impact Factor
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ABSTRACT: Seventeen patients with neuroendocrine liver metastases, 14 of whom were treated with interferon, were examined with MRI before and after contrast administration to evaluate whether there were signal characteristics, differences in homogeneity and/or contrast enhancement patterns that indicated response to or failure of treatment. Of the treated patients 6 objectively responded to treatment (OR), 3 had progressive disease (PD) and 5 had stable disease (SD). A significant difference was found between the SD, untreated (UT) and OR groups of patients in terms of T1 (P = 0.01) and contrast enhancement (P = 0.02). The signal intensity ratio (SIR) in T2-weighted images between tumour and liver was significantly different (P = 0.05) between the OR and PD groups. This indicates that MRI may be used in therapy monitoring of patients with neuroendocrine metastases. Neuroendocrine metastases in the OR group had the same T1 and SIR values as those reported for haemangiomas, while patients in the PD, SD and UT groups had SIR values similar to those for colorectal metastases.
European Radiology 12/1992; 3(1):19-25. · 3.22 Impact Factor
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ABSTRACT: All ultrasound (US) guided needle biopsies of brain tumors performed during an 8-year period were reviewed. Tissue samples were obtained in 112 of 115 biopsy procedures, and a histologic diagnosis was established in 99 cases (88.4%). The rate of major complications was 8.0%. The mortality is similar as in reports on stereotactic and CT-guided biopsy procedures while the morbidity is higher in our material. There are no large series available on US guided intracranial biopsy with adequate reports of complications. A modified biopsy technique is introduced here using a cutting needle and an automatic sampling instrument. The modified technique, which has been used in all cases since 1985, yielded diagnostic material in 91.5%. This method consistently provides a tissue core which is essential for a confident histopathologic diagnosis.
Acta Radiologica 12/1992; 33(6):512-7. · 1.37 Impact Factor
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ABSTRACT: To evaluate percutaneous ultrasound (US) guided tumour biopsy of the anterior mediastinum all patients scheduled for open mediastinal biopsy were considered for percutaneous biopsy during a 2-year period. US guided biopsy was chosen when CT had shown the tumour to be in contact with the thoracic wall. US guided biopsy was performed in 23 patients on 28 occasions. The procedure was technically successful in all cases and no complications occurred. In 27 of 28 cases the biopsy diagnosis was identical to the final diagnosis. In one patient with a malignant lymphoma a false diagnosis of connective tissue remnant was reached. US guided tumour biopsy of the anterior mediastinum is a safe, cost-effective and reliable method and a good alternative to the traditional biopsy techniques via mediastinoscopy or thoracotomy.
Acta Radiologica 10/1992; 33(5):423-6. · 1.37 Impact Factor
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ABSTRACT: Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.
Clinical Genetics 11/1991; 40(4):257-62. · 3.13 Impact Factor
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T Andersson
Acta radiologica. Supplementum 02/1991; 375 ( Pt 2):91-107.
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ABSTRACT: In a prospective study, the role of duplex Doppler ultrasound in monitoring interferon treatment-related changes in carcinoid metastases was evaluated. The Doppler findings from the tumours were correlated to the clinical and laboratory status of the patients to test the hypothesis that successful treatment results in increased vascular resistance. The patients were divided into 4 groups: untreated (n = 10), progressive disease (n = 17), stable disease (n = 20) and objective response (n = 18). In 7 cases Doppler evaluation was made before and after treatment. No significant difference in Doppler values were found between the groups, and at present duplex Doppler ultrasound does not seem to play a role in the evaluation of tumour therapy in carcinoid patients.
European Radiology 01/1991; 1(2):108-112. · 3.22 Impact Factor
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ABSTRACT: Cutting-needle biopsy under ultrasonic guidance was performed in 47 patients with suspected pancreatic carcinoma. The final diagnosis as revealed by autopsy, surgery, or radiologic/clinical follow-up was pancreatic malignancy in 39 patients and benign disease in eight. A correct diagnosis with the aid of biopsy findings was obtained in 44 of the 47 patients (94%). In three patients with carcinoma of the pancreas, the correct diagnosis was not obtained with use of results from the first biopsy. In two of these three patients, simultaneous biopsy of a liver metastasis revealed the presence of a malignant tumor growth. After the biopsy, two patients had a vasovagal reaction, and two experienced mild pain. No case of biopsy-induced pancreatitis occurred, although in one patient a transient rise in the serum amylase level was seen. The present results show that cut biopsy of the pancreas is a useful, reliable, and nontraumatic method in the diagnosis of pancreatic malignancy.
Radiology 10/1990; 176(3):677-9. · 5.73 Impact Factor
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ABSTRACT: In 21 patients ultrasound-guided cutting biopsies, from carcinoid metastases of the liver, were taken before and after therapy with alpha-interferon. Each biopsy was examined under light microscopy and the amount of tumor tissue and connective tissue was quantified and then correlated to objective response to interferon therapy. A significant reduction of the amount of tumor tissue, in spite of unaltered metastatic size and a corresponding increase in connective tissue, was seen after interferon therapy. A more pronounced reduction of tumor tissue occurred after long-term interferon therapy. A positive correlation between objective therapy response and tumor tissue reduction was also present. Patients responding poorly, or not at all, to therapy did not show any significant decrease in tumor tissue. Since treatment with immune response modifiers is expected to increase in the near future, it is important to choose the right investigations for therapy monitoring, and since all patients in this investigation had unchanged tumor size on repeated radiological examinations, it is obvious that microscopic examination of core biopsies is a better method for evaluating effects of long-term therapy than tumor size measurement with radiological techniques. Further, the results may indicate that interferon exerts a cytotoxic effect on carcinoid tumor cells in vivo.
Cancer Research 07/1990; 50(11):3413-5. · 7.86 Impact Factor
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Transplantation Proceedings 09/1989; 21(4):3581-2. · 1.00 Impact Factor
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ABSTRACT: Relaxation times and relative proton densities were calculated from magnetic resonance examinations of the liver in eight patients with liver metastases from neuroendocrine tumours. Single, spin-echo sequences with eight different repetition times and a four-echo sequence were used to calculate T1 and T2 in tumour and normal liver, and the proton density tumour-liver quotient, before and during treatment with interferon. Changes over time of these parameters were compared with variations in tumour marker levels and changes in size and number of the metastases. During therapy, six out of eight cases showed a decrease in tumour T1, five responding to therapy and one with stationary disease, while the two patients with progressive disease showed unchanged tumour T1. The proton density quotient also decreased in a corresponding way, indicating a change in water content in tumours responding to interferon therapy. No significant change in liver T1, tumour T2 or liver T2 occurred in any patient. It is thus possible to perform reliable measurements of relaxation parameters over time, which may be valuable in follow-up of tumour treatment.
British Journal of Radiology 06/1989; 62(737):433-7. · 1.31 Impact Factor
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ABSTRACT: The nuclear DNA contents of tumor cells in 73 patients with endocrine gastrointestinal tumors, 19 patients with endocrine pancreatic tumors (EPT) and 54 patients with malignant carcinoid tumors were determined before and after treatment. The DNA profiles were divided into diploid and aneuploid. In untreated patients, 9 out of 10 (90%) primary EPT and all 9 primary malignant carcinoid tumors (100%) were diploid. Tumor cell imprints from liver metastases of patients with untreated EPT showed aneuploidy in 5 of 11 cases, but only in 7 out of 46 DNA records from patients with untreated carcinoid liver metastases. DNA alteration from diploid to aneuploid profiles occurred in 2 patients with endocrine pancreatic tumors who had received chemotherapy. A change from diploid to aneuploid records was also seen in 7/23 (30%) carcinoid tumors after treatment. The DNA patterns before and after treatment did not show any correlation with survival or treatment response.
Acta Oncologica 02/1989; 28(2):193-7. · 3.33 Impact Factor
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Transplantation Proceedings 07/1988; 20(3):419-20. · 1.00 Impact Factor
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ABSTRACT: Ten patients with malignant endocrine pancreatic tumors were treated with SMS 201-995 at doses of 50 micrograms twice daily, administered subcutaneously. Four out of 10 patients (40%)-1 patient with the Zollinger-Ellison syndrome and 3 of 6 with the watery diarrhea syndrome--responded objectively with more than 50% reduction of peptide levels, with a median duration of 15.5 months. All four patients improved symptomatically, with decreasing dyspeptic symptoms and decreasing diarrhoea. Three additional patients had a clear relief of symptoms without an effect on tumor-secreted peptides. The disease progressed in three patients during treatment. No reduction of tumor mass was seen in any of the patients. The main side effect noted was a slight but maintained increase in fasting blood glucose in four patients. In conclusion, SMS 201-995 had a beneficial effect in more than half of the patients and seems to be a valuable adjunct to other causal therapy in this patient category, especially in acute situations and weak patients because of its very few side effects.
Scandinavian Journal of Gastroenterology 06/1988; 23(4):508-12. · 2.02 Impact Factor
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ABSTRACT: Ultrasonography-guided cutting needle biopsy of the liver was performed in 186 instances on 95 different patients with carcinoid and endocrine pancreatic tumors. In 171 cases, biopsy specimens were taken from liver metastases found on ultrasonography, and in 93% of these the obtained material was adequate for a correct diagnosis. In the 7% for which an incorrect diagnosis was made, all but one biopsy specimen contained normal liver tissue, indicating that the needle-guiding technique, and not the sampling technique, is the most critical part of the biopsy procedure. Tumor specimens were examined with silver stains and immunocytochemistry after application of monoclonal serotonin antibodies. The argyrophil silver stain of Grimelius could be applied on all specimens and had positive results in all but one case, demonstrating the neurohormonal endocrine origin of the metastases. The argentaffin reaction and/or serotonin immunoreactivity could be applied in 152 cases and had positive results in 115 of 122 (94%) of the mid-gut carcinoid tumors and negative results in 27 of 28 (96.4%) of the non-mid-gut carcinoid tumors and endocrine pancreatic tumors. Major complications occurred in 1.5%; none was lethal or required surgery. The results show that the technique used for tumor biopsy is very accurate and provides material sufficient for multiple histopathologic and immunocytochemical analyses without exposing the patients to high complication risks. It is further concluded that the staining techniques and immunocytochemical analyses applied on the biopsy specimens are valid for the prediction of the location of the primary endocrine tumor.
Annals of Surgery 01/1988; 206(6):728-32. · 7.49 Impact Factor
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ABSTRACT: 22 patients with advanced malignant endocrine pancreatic tumours were treated with human leucocyte interferon 3-6 X 10(6) IU per day. Objective responses (more than 50% reduction in tumour markers or tumour size) were seen in 7/7 with watery diarrhoea/hypokalaemia/achlorhydria syndrome, 3/4 with the Zollinger-Ellison syndrome, 6/9 with "non-functioning" tumours, and 1 with a mixed tumour mainly producing somatostatin. The median duration of response was 8.5 months, and all responders improved clinically. Adverse effects seemed more tolerable than those of cytotoxic treatment.
The Lancet 01/1987; 2(8519):1307-9. · 38.28 Impact Factor
