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  • 1
    ISSN: 1432-1076
    Keywords: Key words: Cystic hygroma – Hygroma colli – Teratoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. We describe a neonate with a large tumour involving cranial, cervical and upper mediastinal regions, which presented clinically as hygroma colli. Radiological and pathological investigations showed characteristics of a mature teratoma and prominent cystic components within the tumour. These findings suggest that during early fetal development primary lymphatic sacs were obstructed by a teratoma leading to hygromatous dilatations of lymphatic vessels or that the abnormal proliferation of lymphatic vessels (hygroma) was part of the teratoma, developing from mesoderm as one of the three germinal layers from which teratomas originate. A third possibility is that the cystic part of the tumour originated from plexus chorioideus tissue, containing CSF. The last possibility is most probable in this patient.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1076
    Keywords: Key words Tuberous sclerosis complex ; TSC2 gene ; Loss of heterozygosity ; Pancreas ; Islet cell tumour
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 12-year-old boy with tuberous sclerosis complex (TSC) presented with a large retroperitoneal tumour. Exploratory surgery revealed an infiltrative tumour originating from the pancreas, with local metastases to the lymph nodes. The histologal diagnosis was a malignant islet cell tumour. Retrospectively measured pancreatic hormone levels, however, were normal. A connection between the malignancy and TSC was demonstrated by loss of heterozygosity of the TSC2 gene in the tumour. The primary mutation Q478X in this patient was identified in exon 13 of the TSC2 gene on chromosome 16. Conclusion Pancreatic islet cell tumours have been mainly associated with multiple endocrine neoplasia syndrome type 1. In our case we demonstrate a direct relationship of this tumour to tuberous sclerosis complex, in the absence of further signs of multiple endocrine neoplasia syndrome type 1.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 153 (1994), S. 276-278 
    ISSN: 1432-1076
    Keywords: Cystic hygroma ; Hygroma colli ; teratoma
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a neonate with a large tumour involving cranial, cervical and upper mediastinal regions, which presented clinically as hygroma colli. Radiological and pathological investigations showed characteristics of a mature teratoma and prominent cystic components within the tumour. These findings suggest that during early fetal development primary lymphatic sacs were obstructed by a teratoma leading to hygromatous dilatations of lymphatic vessels or that the abnormal proliferation of lymphatic vessels (hygroma) was part of the teratoma, developing from mesoderm as one of the three germinal layers from which teratomas originate. A third possibility is that the cystic part of the tumour originated from plexus chorioideus tissue, containing CSF. The last possibility is most probable in this patient.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 943-946 
    ISSN: 1432-1076
    Keywords: Key words Congenital ; Lymphoedema ; External genitalia ; Male ; Paediatric
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce and the phallic skin that persisted after the age of 1 year. Circumcision and excision of the subcutaneous tissues of the phallic skin were successful in producing the appearance of a normal circumcised penis. The second case presented with oedema of both phallic and scrotal skin. At age 1 year only a pastous thickening of the prepuce remained, scrotal and phallic skin normalised spontaneously. Routine circumcision was successful with a 5-year follow up. The third case presented with persistent oedema of both the scrotum and the phallus. He suffered leakage of lymph requiring incontinence pads, with complicating skin infections recurring every 4–6 weeks at age 8 years. After complete peeling of the scrotal and phallic skin from subcutaneous tissue some leakage persisted, infections subsided. The cause of this disorder remains unknown, although hypoplasia of the lymphatic vessels is reported in most cases. In the literature, several congenital malformations have been associated with primary lymphoedema. These were not noted in our patients. Rarely, the lymphoedema regresses spontaneously. The treatment of persistent lymphoedema is surgical and consists of meticulous excision of all subcutaneous layers of the affected skin, combined with reconstruction of the penis and/or scrotum. Conclusion Primary lymphoedema of the male external genitalia is an extremely rare malformation of the lymphatic vessels of unknown origin. If persistent, surgical treatment is necessary.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Annals of the New York Academy of Sciences 694 (1993), S. 0 
    ISSN: 1749-6632
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Natural Sciences in General
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    Journal of oral pathology & medicine 23 (1994), S. 0 
    ISSN: 1600-0714
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Juvenile ossifying fibroma (JOF) is a maxillofacial fibro-osseous lesion that may show cell-rich osteoid strands or psammoma-like ossicles. Whether both types are variants of a single entity or different lesions under the same diagnostic label is a subject of debate. This problem was investigated by analyzing a series of 33 patients with lesions having one or both of the above histological appearances. It was concluded that osteoid strands define a unique fibro-osseous lesion but that lesions with psammoma-like ossicles fall within the morphological spectrum of cemento-ossifying fibroma. Therefore the term juvenile ossifying fibroma should be reserved for the lesion with the osteoid strands.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-2307
    Keywords: Key words Congenital hepatic fibrosis ; CDG syndrome ; Phosphomannose isomerase deficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract  Congenital hepatic fibrosis is a rare disorder of intrahepatic bile ducts with the persistence of embryological bile duct structures in ductal plate configuration. Three siblings aged 18, 17 and 14 years old were found to have congenital hepatic fibrosis associated with a deficiency of the enzyme phosphomannose isomerase. The clinical symptoms were recurrent attacks of persistent vomiting with diarrhea and mild hepatomegaly. The biochemical abnormalities included elevated serum transferases during attacks, clotting factor deficiencies and persistent hypoalbuminemia. In the youngest patient protein-losing enteropathy was present. Liver biopsies of the three patients taken when they were 1, 3 and 14 years old showed an excess of bile duct structures in ductal plate configuration with mild fibrosis in the portal triads. In one patient the liver biopsy was repeated after 18 years and showed only a mild progression of fibrosis in the portal triads. Duodenal biopsies taken in infancy in two of the three patients did not show any abnormalities. Recognition of phosphomannose isomerase deficiency in association with congenital hepatic fibrosis and protein-losing enteropathy is important, because some of the clinical symptoms are potentially treatable by oral mannose therapy.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1435-604X
    Keywords: Photodynamic therapy ; Photofrin ; Oral mucosa ; Normal tissue damage ; Light dosimetry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine , Physics , Technology
    Notes: Abstract Photodynamic therapy (PDT) is a treatment modality with potential application for premalignant lesions and squamous cell carcinoma of the oral mucosa. PDT in principle has dual selectivity. This may result from a ‘preferential’ retention of the photosensitizer in target tissue. In addition, the photodynamic activity will be limited to the irradiated area because PDT will not affect tissues in the absence of excitation light. The specificity of PDT is limited by the fact that normal tissues also retain the photosensitizer to some degree, which makes these tissues susceptible to PDT damage. To optimize PDT for oral malignancies, a study was undertaken on normal tissue to investigate the responses in rat palatal mucosa and surrounding anatomical structures. Eighty male Wistar rats were used in the study. Photofrin was administered i.v. at four doses (0, 2.5, 5 or 10 mg kg−1 body weight). Irradiation for PDT was performed 24 h later. An argon pumped dye laser system was used to produce light of two different treatment wavelengths (514.5 and 625 nm), and various energy density levels (0, 25, 50, 100 or 200 J cm−2). Early effects of PDT were studied at 2 days and late effects at 2 months after treatment. Twenty-four hours after i.v. administration of Photofrin, it was found that PDT affects normal tissues of the oral cavity both macroscopically and microscopically. Combinations of photosensitizer doses ≥5 mg kg−1 and light doses≥100 J cm−2 caused severe and permanent damage to the palatal mucosa and adjacent normal structures such as palatal bone and dentition. Light scattering and internal reflection usually raise the fluence rate in tissue above the irradiance of the incident beam. In an additional study using six male Wistar rats, the energy fluence rate at two treatment wavelengths (514.5 and 625 nm) was measured ex vivo in the palatal mucosa and adjacent anatomical structures. As expected, the energy fluence rates were wavelength, tissue and depth dependent. At the air-mucosa boundary, light of 625 nm was found to have a three-times higher fluence rate than the primary incident beam. Under similar conditions, the fluence rate of 514.5 nm was found to be less, but still twice as high as the primary incident beam. At deeper levels of the rat maxilla, fluence rates were still elevated compared with the incident beam. For 625 nm light, this phenomenon was observed up to the level of the nasal cavity. These increased fluence rates could largely explain the pattern of damage to normal mucosa and surrounding anatomical structures.
    Type of Medium: Electronic Resource
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